nandoURL	nando	symbol	ncbi	ncbi_id	hgnc	hgnc_id	gene_name	gene_description
http://nanbyodata.jp/ontology/NANDO_1200410	NANDO:1200410	AAAS	http://identifiers.org/ncbigene/8086	8086	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13666	HGNC:13666	aladin WD repeat nucleoporin	The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200777	NANDO:1200777	AAAS	http://identifiers.org/ncbigene/8086	8086	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13666	HGNC:13666	aladin WD repeat nucleoporin	The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200356	NANDO:2200356	AAAS	http://identifiers.org/ncbigene/8086	8086	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13666	HGNC:13666	aladin WD repeat nucleoporin	The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	AARS1	http://identifiers.org/ncbigene/16	16	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20	HGNC:20	alanyl-tRNA synthetase 1	The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes.  Class II tRNA synthases evolved early in evolution and are highly conserved.  This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein.  tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons.  They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200855	NANDO:2200855	AARS1	http://identifiers.org/ncbigene/16	16	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20	HGNC:20	alanyl-tRNA synthetase 1	The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes.  Class II tRNA synthases evolved early in evolution and are highly conserved.  This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein.  tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons.  They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200949	NANDO:1200949	AARS2	http://identifiers.org/ncbigene/57505	57505	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21022	HGNC:21022	alanyl-tRNA synthetase 2, mitochondrial	The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_1200952	NANDO:1200952	AARS2	http://identifiers.org/ncbigene/57505	57505	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21022	HGNC:21022	alanyl-tRNA synthetase 2, mitochondrial	The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_2200598	NANDO:2200598	ABAT	http://identifiers.org/ncbigene/18	18	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23	HGNC:23	4-aminobutyrate aminotransferase	4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200854	NANDO:1200854	ABCA1	http://identifiers.org/ncbigene/19	19	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29	HGNC:29	ATP binding cassette subfamily A member 1	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency. [provided by RefSeq, Sep 2019]
http://nanbyodata.jp/ontology/NANDO_2200605	NANDO:2200605	ABCA1	http://identifiers.org/ncbigene/19	19	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29	HGNC:29	ATP binding cassette subfamily A member 1	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency. [provided by RefSeq, Sep 2019]
http://nanbyodata.jp/ontology/NANDO_1200609	NANDO:1200609	ABCA12	http://identifiers.org/ncbigene/26154	26154	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14637	HGNC:14637	ATP binding cassette subfamily A member 12	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200991	NANDO:2200991	ABCA12	http://identifiers.org/ncbigene/26154	26154	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14637	HGNC:14637	ATP binding cassette subfamily A member 12	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200992	NANDO:2200992	ABCA12	http://identifiers.org/ncbigene/26154	26154	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14637	HGNC:14637	ATP binding cassette subfamily A member 12	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200746	NANDO:1200746	ABCA3	http://identifiers.org/ncbigene/21	21	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:33	HGNC:33	ATP binding cassette subfamily A member 3	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200750	NANDO:1200750	ABCA3	http://identifiers.org/ncbigene/21	21	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:33	HGNC:33	ATP binding cassette subfamily A member 3	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200199	NANDO:2200199	ABCA3	http://identifiers.org/ncbigene/21	21	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:33	HGNC:33	ATP binding cassette subfamily A member 3	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200200	NANDO:2200200	ABCA3	http://identifiers.org/ncbigene/21	21	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:33	HGNC:33	ATP binding cassette subfamily A member 3	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200201	NANDO:2200201	ABCA3	http://identifiers.org/ncbigene/21	21	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:33	HGNC:33	ATP binding cassette subfamily A member 3	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201042	NANDO:1201042	ABCB11	http://identifiers.org/ncbigene/8647	8647	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:42	HGNC:42	ATP binding cassette subfamily B member 11	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201044	NANDO:1201044	ABCB11	http://identifiers.org/ncbigene/8647	8647	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:42	HGNC:42	ATP binding cassette subfamily B member 11	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200933	NANDO:2200933	ABCB11	http://identifiers.org/ncbigene/8647	8647	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:42	HGNC:42	ATP binding cassette subfamily B member 11	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201437	NANDO:2201437	ABCB11	http://identifiers.org/ncbigene/8647	8647	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:42	HGNC:42	ATP binding cassette subfamily B member 11	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201042	NANDO:1201042	ABCB4	http://identifiers.org/ncbigene/5244	5244	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:45	HGNC:45	ATP binding cassette subfamily B member 4	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intra-cellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the MDR/TAP subfamily.  Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation.  This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate.  The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile.  Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201045	NANDO:1201045	ABCB4	http://identifiers.org/ncbigene/5244	5244	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:45	HGNC:45	ATP binding cassette subfamily B member 4	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intra-cellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the MDR/TAP subfamily.  Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation.  This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate.  The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile.  Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200933	NANDO:2200933	ABCB4	http://identifiers.org/ncbigene/5244	5244	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:45	HGNC:45	ATP binding cassette subfamily B member 4	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intra-cellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the MDR/TAP subfamily.  Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation.  This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate.  The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile.  Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201438	NANDO:2201438	ABCB4	http://identifiers.org/ncbigene/5244	5244	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:45	HGNC:45	ATP binding cassette subfamily B member 4	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intra-cellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the MDR/TAP subfamily.  Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation.  This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate.  The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile.  Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200892	NANDO:1200892	ABCB7	http://identifiers.org/ncbigene/22	22	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:48	HGNC:48	ATP binding cassette subfamily B member 7	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]
http://nanbyodata.jp/ontology/NANDO_2200616	NANDO:2200616	ABCB7	http://identifiers.org/ncbigene/22	22	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:48	HGNC:48	ATP binding cassette subfamily B member 7	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]
http://nanbyodata.jp/ontology/NANDO_1200643	NANDO:1200643	ABCC6	http://identifiers.org/ncbigene/368	368	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:57	HGNC:57	ATP binding cassette subfamily C member 6	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200399	NANDO:2200399	ABCC8	http://identifiers.org/ncbigene/6833	6833	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:59	HGNC:59	ATP binding cassette subfamily C member 8	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations in the ABCC8 gene and deficiencies in the encoded protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_2200463	NANDO:2200463	ABCC8	http://identifiers.org/ncbigene/6833	6833	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:59	HGNC:59	ATP binding cassette subfamily C member 8	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations in the ABCC8 gene and deficiencies in the encoded protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_2201434	NANDO:2201434	ABCC8	http://identifiers.org/ncbigene/6833	6833	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:59	HGNC:59	ATP binding cassette subfamily C member 8	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations in the ABCC8 gene and deficiencies in the encoded protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_2201435	NANDO:2201435	ABCC8	http://identifiers.org/ncbigene/6833	6833	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:59	HGNC:59	ATP binding cassette subfamily C member 8	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations in the ABCC8 gene and deficiencies in the encoded protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_1200165	NANDO:1200165	ABCD1	http://identifiers.org/ncbigene/215	215	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:61	HGNC:61	ATP binding cassette subfamily D member 1	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200576	NANDO:2200576	ABCD1	http://identifiers.org/ncbigene/215	215	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:61	HGNC:61	ATP binding cassette subfamily D member 1	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200589	NANDO:2200589	ABCG2	http://identifiers.org/ncbigene/9429	9429	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:74	HGNC:74	ATP binding cassette subfamily G member 2 (Junior blood group)	The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_1200853	NANDO:1200853	ABCG5	http://identifiers.org/ncbigene/64240	64240	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13886	HGNC:13886	ATP binding cassette subfamily G member 5	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200606	NANDO:2200606	ABCG5	http://identifiers.org/ncbigene/64240	64240	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13886	HGNC:13886	ATP binding cassette subfamily G member 5	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200853	NANDO:1200853	ABCG8	http://identifiers.org/ncbigene/64241	64241	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13887	HGNC:13887	ATP binding cassette subfamily G member 8	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200606	NANDO:2200606	ABCG8	http://identifiers.org/ncbigene/64241	64241	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13887	HGNC:13887	ATP binding cassette subfamily G member 8	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200609	NANDO:1200609	ABHD5	http://identifiers.org/ncbigene/51099	51099	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21396	HGNC:21396	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200995	NANDO:2200995	ABHD5	http://identifiers.org/ncbigene/51099	51099	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21396	HGNC:21396	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200997	NANDO:2200997	ABHD5	http://identifiers.org/ncbigene/51099	51099	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21396	HGNC:21396	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200001	NANDO:2200001	ABL1	http://identifiers.org/ncbigene/25	25	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:76	HGNC:76	ABL proto-oncogene 1, non-receptor tyrosine kinase	This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]
http://nanbyodata.jp/ontology/NANDO_2200005	NANDO:2200005	ABL1	http://identifiers.org/ncbigene/25	25	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:76	HGNC:76	ABL proto-oncogene 1, non-receptor tyrosine kinase	This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]
http://nanbyodata.jp/ontology/NANDO_2200006	NANDO:2200006	ABL1	http://identifiers.org/ncbigene/25	25	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:76	HGNC:76	ABL proto-oncogene 1, non-receptor tyrosine kinase	This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]
http://nanbyodata.jp/ontology/NANDO_2200007	NANDO:2200007	ABL1	http://identifiers.org/ncbigene/25	25	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:76	HGNC:76	ABL proto-oncogene 1, non-receptor tyrosine kinase	This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]
http://nanbyodata.jp/ontology/NANDO_2200008	NANDO:2200008	ABL1	http://identifiers.org/ncbigene/25	25	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:76	HGNC:76	ABL proto-oncogene 1, non-receptor tyrosine kinase	This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]
http://nanbyodata.jp/ontology/NANDO_2200009	NANDO:2200009	ABL1	http://identifiers.org/ncbigene/25	25	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:76	HGNC:76	ABL proto-oncogene 1, non-receptor tyrosine kinase	This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]
http://nanbyodata.jp/ontology/NANDO_2200010	NANDO:2200010	ABL1	http://identifiers.org/ncbigene/25	25	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:76	HGNC:76	ABL proto-oncogene 1, non-receptor tyrosine kinase	This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]
http://nanbyodata.jp/ontology/NANDO_2200011	NANDO:2200011	ABL1	http://identifiers.org/ncbigene/25	25	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:76	HGNC:76	ABL proto-oncogene 1, non-receptor tyrosine kinase	This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]
http://nanbyodata.jp/ontology/NANDO_2200013	NANDO:2200013	ABL1	http://identifiers.org/ncbigene/25	25	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:76	HGNC:76	ABL proto-oncogene 1, non-receptor tyrosine kinase	This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]
http://nanbyodata.jp/ontology/NANDO_2200015	NANDO:2200015	ABL1	http://identifiers.org/ncbigene/25	25	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:76	HGNC:76	ABL proto-oncogene 1, non-receptor tyrosine kinase	This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]
http://nanbyodata.jp/ontology/NANDO_2200513	NANDO:2200513	ACADM	http://identifiers.org/ncbigene/34	34	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:89	HGNC:89	acyl-CoA dehydrogenase medium chain	This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200514	NANDO:2200514	ACADS	http://identifiers.org/ncbigene/35	35	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:90	HGNC:90	acyl-CoA dehydrogenase short chain	This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014]
http://nanbyodata.jp/ontology/NANDO_1201109	NANDO:1201109	ACADVL	http://identifiers.org/ncbigene/37	37	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:92	HGNC:92	acyl-CoA dehydrogenase very long chain	The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200512	NANDO:2200512	ACADVL	http://identifiers.org/ncbigene/37	37	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:92	HGNC:92	acyl-CoA dehydrogenase very long chain	The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200987	NANDO:1200987	ACAT1	http://identifiers.org/ncbigene/38	38	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:93	HGNC:93	acetyl-CoA acetyltransferase 1	error
http://nanbyodata.jp/ontology/NANDO_2200493	NANDO:2200493	ACAT1	http://identifiers.org/ncbigene/38	38	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:93	HGNC:93	acetyl-CoA acetyltransferase 1	error
http://nanbyodata.jp/ontology/NANDO_1200477	NANDO:1200477	ACTA1	http://identifiers.org/ncbigene/58	58	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:129	HGNC:129	actin alpha 1, skeletal muscle	The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019]
http://nanbyodata.jp/ontology/NANDO_1200478	NANDO:1200478	ACTA1	http://identifiers.org/ncbigene/58	58	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:129	HGNC:129	actin alpha 1, skeletal muscle	The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019]
http://nanbyodata.jp/ontology/NANDO_1200483	NANDO:1200483	ACTA1	http://identifiers.org/ncbigene/58	58	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:129	HGNC:129	actin alpha 1, skeletal muscle	The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019]
http://nanbyodata.jp/ontology/NANDO_2200868	NANDO:2200868	ACTA1	http://identifiers.org/ncbigene/58	58	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:129	HGNC:129	actin alpha 1, skeletal muscle	The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019]
http://nanbyodata.jp/ontology/NANDO_2200869	NANDO:2200869	ACTA1	http://identifiers.org/ncbigene/58	58	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:129	HGNC:129	actin alpha 1, skeletal muscle	The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019]
http://nanbyodata.jp/ontology/NANDO_2200871	NANDO:2200871	ACTA1	http://identifiers.org/ncbigene/58	58	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:129	HGNC:129	actin alpha 1, skeletal muscle	The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019]
http://nanbyodata.jp/ontology/NANDO_2200874	NANDO:2200874	ACTA1	http://identifiers.org/ncbigene/58	58	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:129	HGNC:129	actin alpha 1, skeletal muscle	The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019]
http://nanbyodata.jp/ontology/NANDO_2200229	NANDO:2200229	ACTB	http://identifiers.org/ncbigene/60	60	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:132	HGNC:132	actin beta	This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200232	NANDO:2200232	ACTB	http://identifiers.org/ncbigene/60	60	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:132	HGNC:132	actin beta	This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2201041	NANDO:2201041	ACTB	http://identifiers.org/ncbigene/60	60	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:132	HGNC:132	actin beta	This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200945	NANDO:1200945	ACTG1	http://identifiers.org/ncbigene/71	71	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:144	HGNC:144	actin gamma 1	Actins are highly conserved proteins that are involved in various types of cell motility and in maintenance of the cytoskeleton. Three main groups of actin isoforms have been identified in vertebrate animals: alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. Actin gamma 1, encoded by this gene, is a cytoplasmic actin found in all cell types. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss and also with Baraitser-Winter syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
http://nanbyodata.jp/ontology/NANDO_2200659	NANDO:2200659	ACTN1	http://identifiers.org/ncbigene/87	87	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:163	HGNC:163	actinin alpha 1	Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200665	NANDO:2200665	ACTN1	http://identifiers.org/ncbigene/87	87	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:163	HGNC:163	actinin alpha 1	Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200871	NANDO:1200871	ACVR1	http://identifiers.org/ncbigene/90	90	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:171	HGNC:171	activin A receptor type 1	Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201020	NANDO:2201020	ACVR1	http://identifiers.org/ncbigene/90	90	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:171	HGNC:171	activin A receptor type 1	Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200425	NANDO:1200425	ACVRL1	http://identifiers.org/ncbigene/94	94	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:175	HGNC:175	activin A receptor like type 1	This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200744	NANDO:1200744	ACVRL1	http://identifiers.org/ncbigene/94	94	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:175	HGNC:175	activin A receptor like type 1	This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200298	NANDO:2200298	ACVRL1	http://identifiers.org/ncbigene/94	94	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:175	HGNC:175	activin A receptor like type 1	This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201034	NANDO:2201034	ACVRL1	http://identifiers.org/ncbigene/94	94	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:175	HGNC:175	activin A receptor like type 1	This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	ADA	http://identifiers.org/ncbigene/100	100	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:186	HGNC:186	adenosine deaminase	This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as severe combined immunodeficiency disease (SCID) which is the result of a deficiency in the ADA enzyme. In ADA-deficient individuals there is a marked depletion of T, B, and NK lymphocytes, and consequently, a lack of both humoral and cellular immunity. Conversely, elevated levels of this enzyme are associated with congenital hemolytic anemia. [provided by RefSeq, Sep 2019]
http://nanbyodata.jp/ontology/NANDO_1200323	NANDO:1200323	ADA	http://identifiers.org/ncbigene/100	100	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:186	HGNC:186	adenosine deaminase	This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as severe combined immunodeficiency disease (SCID) which is the result of a deficiency in the ADA enzyme. In ADA-deficient individuals there is a marked depletion of T, B, and NK lymphocytes, and consequently, a lack of both humoral and cellular immunity. Conversely, elevated levels of this enzyme are associated with congenital hemolytic anemia. [provided by RefSeq, Sep 2019]
http://nanbyodata.jp/ontology/NANDO_2200696	NANDO:2200696	ADA	http://identifiers.org/ncbigene/100	100	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:186	HGNC:186	adenosine deaminase	This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as severe combined immunodeficiency disease (SCID) which is the result of a deficiency in the ADA enzyme. In ADA-deficient individuals there is a marked depletion of T, B, and NK lymphocytes, and consequently, a lack of both humoral and cellular immunity. Conversely, elevated levels of this enzyme are associated with congenital hemolytic anemia. [provided by RefSeq, Sep 2019]
http://nanbyodata.jp/ontology/NANDO_2200697	NANDO:2200697	ADA	http://identifiers.org/ncbigene/100	100	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:186	HGNC:186	adenosine deaminase	This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as severe combined immunodeficiency disease (SCID) which is the result of a deficiency in the ADA enzyme. In ADA-deficient individuals there is a marked depletion of T, B, and NK lymphocytes, and consequently, a lack of both humoral and cellular immunity. Conversely, elevated levels of this enzyme are associated with congenital hemolytic anemia. [provided by RefSeq, Sep 2019]
http://nanbyodata.jp/ontology/NANDO_1200993	NANDO:1200993	ADA2	http://identifiers.org/ncbigene/51816	51816	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1839	HGNC:1839	adenosine deaminase 2	This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
http://nanbyodata.jp/ontology/NANDO_1200995	NANDO:1200995	ADA2	http://identifiers.org/ncbigene/51816	51816	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1839	HGNC:1839	adenosine deaminase 2	This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
http://nanbyodata.jp/ontology/NANDO_2200440	NANDO:2200440	ADA2	http://identifiers.org/ncbigene/51816	51816	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1839	HGNC:1839	adenosine deaminase 2	This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
http://nanbyodata.jp/ontology/NANDO_2200441	NANDO:2200441	ADA2	http://identifiers.org/ncbigene/51816	51816	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1839	HGNC:1839	adenosine deaminase 2	This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
http://nanbyodata.jp/ontology/NANDO_2200450	NANDO:2200450	ADA2	http://identifiers.org/ncbigene/51816	51816	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1839	HGNC:1839	adenosine deaminase 2	This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
http://nanbyodata.jp/ontology/NANDO_2200649	NANDO:2200649	ADAMTS13	http://identifiers.org/ncbigene/11093	11093	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1366	HGNC:1366	ADAM metallopeptidase with thrombospondin type 1 motif 13	This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_1200645	NANDO:1200645	ADAMTS2	http://identifiers.org/ncbigene/9509	9509	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:218	HGNC:218	ADAM metallopeptidase with thrombospondin type 1 motif 2	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_1200651	NANDO:1200651	ADAMTS2	http://identifiers.org/ncbigene/9509	9509	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:218	HGNC:218	ADAM metallopeptidase with thrombospondin type 1 motif 2	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_2200607	NANDO:2200607	ADAMTS2	http://identifiers.org/ncbigene/9509	9509	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:218	HGNC:218	ADAM metallopeptidase with thrombospondin type 1 motif 2	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_2201261	NANDO:2201261	ADAMTS2	http://identifiers.org/ncbigene/9509	9509	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:218	HGNC:218	ADAM metallopeptidase with thrombospondin type 1 motif 2	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_1200993	NANDO:1200993	ADAR	http://identifiers.org/ncbigene/103	103	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:225	HGNC:225	adenosine deaminase RNA specific	This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_1200996	NANDO:1200996	ADAR	http://identifiers.org/ncbigene/103	103	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:225	HGNC:225	adenosine deaminase RNA specific	This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	ADAR	http://identifiers.org/ncbigene/103	103	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:225	HGNC:225	adenosine deaminase RNA specific	This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_2200888	NANDO:2200888	ADAR	http://identifiers.org/ncbigene/103	103	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:225	HGNC:225	adenosine deaminase RNA specific	This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_2200893	NANDO:2200893	ADAR	http://identifiers.org/ncbigene/103	103	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:225	HGNC:225	adenosine deaminase RNA specific	This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_2200898	NANDO:2200898	ADAR	http://identifiers.org/ncbigene/103	103	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:225	HGNC:225	adenosine deaminase RNA specific	This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_1200574	NANDO:1200574	ADGRG1	http://identifiers.org/ncbigene/9289	9289	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4512	HGNC:4512	adhesion G protein-coupled receptor G1	This gene encodes a member of the G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tumor stroma implicated as an inhibitor of tumor progression. Mutations in this gene are associated with a brain malformation known as bilateral frontoparietal polymicrogyria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
http://nanbyodata.jp/ontology/NANDO_1201071	NANDO:1201071	ADGRG1	http://identifiers.org/ncbigene/9289	9289	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4512	HGNC:4512	adhesion G protein-coupled receptor G1	This gene encodes a member of the G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tumor stroma implicated as an inhibitor of tumor progression. Mutations in this gene are associated with a brain malformation known as bilateral frontoparietal polymicrogyria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
http://nanbyodata.jp/ontology/NANDO_2200817	NANDO:2200817	ADGRG1	http://identifiers.org/ncbigene/9289	9289	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4512	HGNC:4512	adhesion G protein-coupled receptor G1	This gene encodes a member of the G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tumor stroma implicated as an inhibitor of tumor progression. Mutations in this gene are associated with a brain malformation known as bilateral frontoparietal polymicrogyria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
http://nanbyodata.jp/ontology/NANDO_1200941	NANDO:1200941	ADGRV1	http://identifiers.org/ncbigene/84059	84059	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17416	HGNC:17416	adhesion G protein-coupled receptor V1	This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200943	NANDO:1200943	ADGRV1	http://identifiers.org/ncbigene/84059	84059	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17416	HGNC:17416	adhesion G protein-coupled receptor V1	This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200645	NANDO:1200645	AEBP1	http://identifiers.org/ncbigene/165	165	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:303	HGNC:303	AE binding protein 1	This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. [provided by RefSeq, May 2013]
http://nanbyodata.jp/ontology/NANDO_1200646	NANDO:1200646	AEBP1	http://identifiers.org/ncbigene/165	165	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:303	HGNC:303	AE binding protein 1	This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. [provided by RefSeq, May 2013]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	AGA	http://identifiers.org/ncbigene/175	175	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:318	HGNC:318	aspartylglucosaminidase	This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. Mutations in this gene are associated with the lysosomal storage disease aspartylglycosaminuria that results in progressive neurodegeneration. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is subject to proteolytic processing. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_1200133	NANDO:1200133	AGA	http://identifiers.org/ncbigene/175	175	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:318	HGNC:318	aspartylglucosaminidase	This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. Mutations in this gene are associated with the lysosomal storage disease aspartylglycosaminuria that results in progressive neurodegeneration. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is subject to proteolytic processing. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_2200555	NANDO:2200555	AGA	http://identifiers.org/ncbigene/175	175	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:318	HGNC:318	aspartylglucosaminidase	This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. Mutations in this gene are associated with the lysosomal storage disease aspartylglycosaminuria that results in progressive neurodegeneration. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is subject to proteolytic processing. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_2200523	NANDO:2200523	AGK	http://identifiers.org/ncbigene/55750	55750	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21869	HGNC:21869	acylglycerol kinase	The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012]
http://nanbyodata.jp/ontology/NANDO_1200823	NANDO:1200823	AGL	http://identifiers.org/ncbigene/178	178	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:321	HGNC:321	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200826	NANDO:1200826	AGL	http://identifiers.org/ncbigene/178	178	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:321	HGNC:321	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200838	NANDO:1200838	AGL	http://identifiers.org/ncbigene/178	178	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:321	HGNC:321	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200842	NANDO:1200842	AGL	http://identifiers.org/ncbigene/178	178	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:321	HGNC:321	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200843	NANDO:1200843	AGL	http://identifiers.org/ncbigene/178	178	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:321	HGNC:321	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200844	NANDO:1200844	AGL	http://identifiers.org/ncbigene/178	178	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:321	HGNC:321	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200845	NANDO:1200845	AGL	http://identifiers.org/ncbigene/178	178	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:321	HGNC:321	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201019	NANDO:1201019	AGL	http://identifiers.org/ncbigene/178	178	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:321	HGNC:321	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200539	NANDO:2200539	AGL	http://identifiers.org/ncbigene/178	178	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:321	HGNC:321	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200858	NANDO:1200858	AGPAT2	http://identifiers.org/ncbigene/10555	10555	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:325	HGNC:325	1-acylglycerol-3-phosphate O-acyltransferase 2	This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200859	NANDO:1200859	AGPAT2	http://identifiers.org/ncbigene/10555	10555	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:325	HGNC:325	1-acylglycerol-3-phosphate O-acyltransferase 2	This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200404	NANDO:2200404	AGPAT2	http://identifiers.org/ncbigene/10555	10555	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:325	HGNC:325	1-acylglycerol-3-phosphate O-acyltransferase 2	This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200465	NANDO:2200465	AGPAT2	http://identifiers.org/ncbigene/10555	10555	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:325	HGNC:325	1-acylglycerol-3-phosphate O-acyltransferase 2	This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201442	NANDO:2201442	AGPAT2	http://identifiers.org/ncbigene/10555	10555	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:325	HGNC:325	1-acylglycerol-3-phosphate O-acyltransferase 2	This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201444	NANDO:2201444	AGPAT2	http://identifiers.org/ncbigene/10555	10555	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:325	HGNC:325	1-acylglycerol-3-phosphate O-acyltransferase 2	This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200758	NANDO:1200758	AGPS	http://identifiers.org/ncbigene/8540	8540	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:327	HGNC:327	alkylglycerone phosphate synthase	This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200772	NANDO:1200772	AGPS	http://identifiers.org/ncbigene/8540	8540	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:327	HGNC:327	alkylglycerone phosphate synthase	This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200021	NANDO:1200021	AGRN	http://identifiers.org/ncbigene/375790	375790	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:329	HGNC:329	agrin	This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
http://nanbyodata.jp/ontology/NANDO_2200503	NANDO:2200503	AGT	http://identifiers.org/ncbigene/183	183	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:333	HGNC:333	angiotensinogen	The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure, body fluid and electrolyte homeostasis, and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. [provided by RefSeq, Nov 2019]
http://nanbyodata.jp/ontology/NANDO_1200758	NANDO:1200758	AGXT	http://identifiers.org/ncbigene/189	189	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:341	HGNC:341	alanine--glyoxylate and serine--pyruvate aminotransferase	This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200773	NANDO:1200773	AGXT	http://identifiers.org/ncbigene/189	189	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:341	HGNC:341	alanine--glyoxylate and serine--pyruvate aminotransferase	This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201524	NANDO:2201524	AHDC1	http://identifiers.org/ncbigene/27245	27245	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25230	HGNC:25230	AT-hook DNA binding motif containing 1	This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	AHI1	http://identifiers.org/ncbigene/54806	54806	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21575	HGNC:21575	Abelson helper integration site 1	This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	AHI1	http://identifiers.org/ncbigene/54806	54806	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21575	HGNC:21575	Abelson helper integration site 1	This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200824	NANDO:2200824	AHI1	http://identifiers.org/ncbigene/54806	54806	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21575	HGNC:21575	Abelson helper integration site 1	This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	AICDA	http://identifiers.org/ncbigene/57379	57379	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13203	HGNC:13203	activation induced cytidine deaminase	This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. AICDA is specifically expressed and active in germinal center-like B cells. In the germinal center, AICDA is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. An epigenetic role in neoplastic transformation and lymphoma progression has been experimentally ascribed to AICDA using mouse models. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_1200345	NANDO:1200345	AICDA	http://identifiers.org/ncbigene/57379	57379	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13203	HGNC:13203	activation induced cytidine deaminase	This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. AICDA is specifically expressed and active in germinal center-like B cells. In the germinal center, AICDA is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. An epigenetic role in neoplastic transformation and lymphoma progression has been experimentally ascribed to AICDA using mouse models. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_2200718	NANDO:2200718	AICDA	http://identifiers.org/ncbigene/57379	57379	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13203	HGNC:13203	activation induced cytidine deaminase	This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. AICDA is specifically expressed and active in germinal center-like B cells. In the germinal center, AICDA is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. An epigenetic role in neoplastic transformation and lymphoma progression has been experimentally ascribed to AICDA using mouse models. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	AIFM1	http://identifiers.org/ncbigene/9131	9131	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8768	HGNC:8768	apoptosis inducing factor mitochondria associated 1	This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and cognitive disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015]
http://nanbyodata.jp/ontology/NANDO_2200346	NANDO:2200346	AIRE	http://identifiers.org/ncbigene/326	326	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:360	HGNC:360	autoimmune regulator	This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	AIRE	http://identifiers.org/ncbigene/326	326	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:360	HGNC:360	autoimmune regulator	This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]
http://nanbyodata.jp/ontology/NANDO_2200738	NANDO:2200738	AIRE	http://identifiers.org/ncbigene/326	326	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:360	HGNC:360	autoimmune regulator	This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	AK2	http://identifiers.org/ncbigene/204	204	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:362	HGNC:362	adenylate kinase 2	Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010]
http://nanbyodata.jp/ontology/NANDO_1200322	NANDO:1200322	AK2	http://identifiers.org/ncbigene/204	204	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:362	HGNC:362	adenylate kinase 2	Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010]
http://nanbyodata.jp/ontology/NANDO_2200695	NANDO:2200695	AK2	http://identifiers.org/ncbigene/204	204	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:362	HGNC:362	adenylate kinase 2	Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010]
http://nanbyodata.jp/ontology/NANDO_2200697	NANDO:2200697	AK2	http://identifiers.org/ncbigene/204	204	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:362	HGNC:362	adenylate kinase 2	Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010]
http://nanbyodata.jp/ontology/NANDO_2200228	NANDO:2200228	AKAP9	http://identifiers.org/ncbigene/10142	10142	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:379	HGNC:379	A-kinase anchoring protein 9	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008]
http://nanbyodata.jp/ontology/NANDO_2200506	NANDO:2200506	AKR1D1	http://identifiers.org/ncbigene/6718	6718	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:388	HGNC:388	aldo-keto reductase family 1 member D1	The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_1200858	NANDO:1200858	AKT2	http://identifiers.org/ncbigene/208	208	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:392	HGNC:392	AKT serine/threonine kinase 2	This gene is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains, which is involved in signaling pathways. The gene serves as an oncogene in the tumorigenesis of cancer cells For example, its overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. The encoded protein is a general protein kinase capable of phophorylating several known proteins, and has also been implicated in insulin signaling. [provided by RefSeq, Nov 2019]
http://nanbyodata.jp/ontology/NANDO_1200861	NANDO:1200861	AKT2	http://identifiers.org/ncbigene/208	208	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:392	HGNC:392	AKT serine/threonine kinase 2	This gene is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains, which is involved in signaling pathways. The gene serves as an oncogene in the tumorigenesis of cancer cells For example, its overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. The encoded protein is a general protein kinase capable of phophorylating several known proteins, and has also been implicated in insulin signaling. [provided by RefSeq, Nov 2019]
http://nanbyodata.jp/ontology/NANDO_2200404	NANDO:2200404	AKT2	http://identifiers.org/ncbigene/208	208	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:392	HGNC:392	AKT serine/threonine kinase 2	This gene is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains, which is involved in signaling pathways. The gene serves as an oncogene in the tumorigenesis of cancer cells For example, its overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. The encoded protein is a general protein kinase capable of phophorylating several known proteins, and has also been implicated in insulin signaling. [provided by RefSeq, Nov 2019]
http://nanbyodata.jp/ontology/NANDO_2201443	NANDO:2201443	AKT2	http://identifiers.org/ncbigene/208	208	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:392	HGNC:392	AKT serine/threonine kinase 2	This gene is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains, which is involved in signaling pathways. The gene serves as an oncogene in the tumorigenesis of cancer cells For example, its overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. The encoded protein is a general protein kinase capable of phophorylating several known proteins, and has also been implicated in insulin signaling. [provided by RefSeq, Nov 2019]
http://nanbyodata.jp/ontology/NANDO_2201446	NANDO:2201446	AKT2	http://identifiers.org/ncbigene/208	208	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:392	HGNC:392	AKT serine/threonine kinase 2	This gene is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains, which is involved in signaling pathways. The gene serves as an oncogene in the tumorigenesis of cancer cells For example, its overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. The encoded protein is a general protein kinase capable of phophorylating several known proteins, and has also been implicated in insulin signaling. [provided by RefSeq, Nov 2019]
http://nanbyodata.jp/ontology/NANDO_1200563	NANDO:1200563	AKT3	http://identifiers.org/ncbigene/10000	10000	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:393	HGNC:393	AKT serine/threonine kinase 3	The protein encoded by this gene is a member of the AKT, also called PKB,  serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200823	NANDO:2200823	AKT3	http://identifiers.org/ncbigene/10000	10000	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:393	HGNC:393	AKT serine/threonine kinase 3	The protein encoded by this gene is a member of the AKT, also called PKB,  serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201394	NANDO:2201394	AKT3	http://identifiers.org/ncbigene/10000	10000	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:393	HGNC:393	AKT serine/threonine kinase 3	The protein encoded by this gene is a member of the AKT, also called PKB,  serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201498	NANDO:2201498	AKT3	http://identifiers.org/ncbigene/10000	10000	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:393	HGNC:393	AKT serine/threonine kinase 3	The protein encoded by this gene is a member of the AKT, also called PKB,  serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200610	NANDO:2200610	ALAD	http://identifiers.org/ncbigene/210	210	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:395	HGNC:395	aminolevulinate dehydratase	The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_1200811	NANDO:1200811	ALAS2	http://identifiers.org/ncbigene/212	212	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:397	HGNC:397	5'-aminolevulinate synthase 2	The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200818	NANDO:1200818	ALAS2	http://identifiers.org/ncbigene/212	212	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:397	HGNC:397	5'-aminolevulinate synthase 2	The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200892	NANDO:1200892	ALAS2	http://identifiers.org/ncbigene/212	212	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:397	HGNC:397	5'-aminolevulinate synthase 2	The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200610	NANDO:2200610	ALAS2	http://identifiers.org/ncbigene/212	212	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:397	HGNC:397	5'-aminolevulinate synthase 2	The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200616	NANDO:2200616	ALAS2	http://identifiers.org/ncbigene/212	212	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:397	HGNC:397	5'-aminolevulinate synthase 2	The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201470	NANDO:2201470	ALAS2	http://identifiers.org/ncbigene/212	212	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:397	HGNC:397	5'-aminolevulinate synthase 2	The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200609	NANDO:1200609	ALDH3A2	http://identifiers.org/ncbigene/224	224	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:403	HGNC:403	aldehyde dehydrogenase 3 family member A2	Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200994	NANDO:2200994	ALDH3A2	http://identifiers.org/ncbigene/224	224	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:403	HGNC:403	aldehyde dehydrogenase 3 family member A2	Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200471	NANDO:2200471	ALDH4A1	http://identifiers.org/ncbigene/8659	8659	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:406	HGNC:406	aldehyde dehydrogenase 4 family member A1	This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]
http://nanbyodata.jp/ontology/NANDO_2200599	NANDO:2200599	ALDH5A1	http://identifiers.org/ncbigene/7915	7915	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:408	HGNC:408	aldehyde dehydrogenase 5 family member A1	error
http://nanbyodata.jp/ontology/NANDO_2201409	NANDO:2201409	ALDH7A1	http://identifiers.org/ncbigene/501	501	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:877	HGNC:877	aldehyde dehydrogenase 7 family member A1	The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011]
http://nanbyodata.jp/ontology/NANDO_2201410	NANDO:2201410	ALDH7A1	http://identifiers.org/ncbigene/501	501	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:877	HGNC:877	aldehyde dehydrogenase 7 family member A1	The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011]
http://nanbyodata.jp/ontology/NANDO_1200823	NANDO:1200823	ALDOA	http://identifiers.org/ncbigene/226	226	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:414	HGNC:414	aldolase, fructose-bisphosphate A	This gene encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Mutations in this gene have been associated with Glycogen Storage Disease XII, an autosomal recessive disorder associated with hemolytic anemia. Disruption of this gene also plays a role in the progression of multiple types of cancers. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Sep 2017]
http://nanbyodata.jp/ontology/NANDO_1200834	NANDO:1200834	ALDOA	http://identifiers.org/ncbigene/226	226	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:414	HGNC:414	aldolase, fructose-bisphosphate A	This gene encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Mutations in this gene have been associated with Glycogen Storage Disease XII, an autosomal recessive disorder associated with hemolytic anemia. Disruption of this gene also plays a role in the progression of multiple types of cancers. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Sep 2017]
http://nanbyodata.jp/ontology/NANDO_2200187	NANDO:2200187	ALDOB	http://identifiers.org/ncbigene/229	229	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:417	HGNC:417	aldolase, fructose-bisphosphate B	Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_2200531	NANDO:2200531	ALDOB	http://identifiers.org/ncbigene/229	229	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:417	HGNC:417	aldolase, fructose-bisphosphate B	Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_1200591	NANDO:1200591	ALG13	http://identifiers.org/ncbigene/79868	79868	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30881	HGNC:30881	ALG13 UDP-N-acetylglucosaminyltransferase subunit	The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
http://nanbyodata.jp/ontology/NANDO_1200021	NANDO:1200021	ALG14	http://identifiers.org/ncbigene/199857	199857	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28287	HGNC:28287	ALG14 UDP-N-acetylglucosaminyltransferase subunit	This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
http://nanbyodata.jp/ontology/NANDO_1200021	NANDO:1200021	ALG2	http://identifiers.org/ncbigene/85365	85365	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23159	HGNC:23159	ALG2 alpha-1,3/1,6-mannosyltransferase	This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_2200021	NANDO:2200021	ALK	http://identifiers.org/ncbigene/238	238	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:427	HGNC:427	ALK receptor tyrosine kinase	This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011]
http://nanbyodata.jp/ontology/NANDO_1200609	NANDO:1200609	ALOX12B	http://identifiers.org/ncbigene/242	242	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:430	HGNC:430	arachidonate 12-lipoxygenase, 12R type	This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Sep 2015]
http://nanbyodata.jp/ontology/NANDO_2200991	NANDO:2200991	ALOX12B	http://identifiers.org/ncbigene/242	242	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:430	HGNC:430	arachidonate 12-lipoxygenase, 12R type	This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Sep 2015]
http://nanbyodata.jp/ontology/NANDO_1200609	NANDO:1200609	ALOXE3	http://identifiers.org/ncbigene/59344	59344	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13743	HGNC:13743	arachidonate lipoxygenase 3	This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARalpha), which is implicated in epidermal differentiation. Loss of function of the enzyme encoded by this gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. This gene is part of a cluster of lipoxygenase genes on 17p13.1. Mutations in this gene result in nonbullous congenital ichthyosiform erythroderma (NCIE). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2200991	NANDO:2200991	ALOXE3	http://identifiers.org/ncbigene/59344	59344	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13743	HGNC:13743	arachidonate lipoxygenase 3	This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARalpha), which is implicated in epidermal differentiation. Loss of function of the enzyme encoded by this gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. This gene is part of a cluster of lipoxygenase genes on 17p13.1. Mutations in this gene result in nonbullous congenital ichthyosiform erythroderma (NCIE). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200656	NANDO:1200656	ALPL	http://identifiers.org/ncbigene/249	249	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:438	HGNC:438	alkaline phosphatase, biomineralization associated	This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_2201012	NANDO:2201012	ALPL	http://identifiers.org/ncbigene/249	249	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:438	HGNC:438	alkaline phosphatase, biomineralization associated	This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200008	NANDO:1200008	ALS2	http://identifiers.org/ncbigene/57679	57679	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:443	HGNC:443	alsin Rho guanine nucleotide exchange factor ALS2	The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200758	NANDO:1200758	AMACR	http://identifiers.org/ncbigene/23600	23600	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:451	HGNC:451	alpha-methylacyl-CoA racemase	This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_1200764	NANDO:1200764	AMACR	http://identifiers.org/ncbigene/23600	23600	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:451	HGNC:451	alpha-methylacyl-CoA racemase	This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_1200768	NANDO:1200768	AMACR	http://identifiers.org/ncbigene/23600	23600	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:451	HGNC:451	alpha-methylacyl-CoA racemase	This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2200506	NANDO:2200506	AMACR	http://identifiers.org/ncbigene/23600	23600	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:451	HGNC:451	alpha-methylacyl-CoA racemase	This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2201022	NANDO:2201022	AMER1	http://identifiers.org/ncbigene/139285	139285	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26837	HGNC:26837	APC membrane recruitment protein 1	The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2201025	NANDO:2201025	AMER1	http://identifiers.org/ncbigene/139285	139285	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26837	HGNC:26837	APC membrane recruitment protein 1	The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_1200594	NANDO:1200594	AMT	http://identifiers.org/ncbigene/275	275	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:473	HGNC:473	aminomethyltransferase	This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
http://nanbyodata.jp/ontology/NANDO_1200984	NANDO:1200984	AMT	http://identifiers.org/ncbigene/275	275	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:473	HGNC:473	aminomethyltransferase	This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
http://nanbyodata.jp/ontology/NANDO_1200985	NANDO:1200985	AMT	http://identifiers.org/ncbigene/275	275	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:473	HGNC:473	aminomethyltransferase	This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
http://nanbyodata.jp/ontology/NANDO_1200986	NANDO:1200986	AMT	http://identifiers.org/ncbigene/275	275	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:473	HGNC:473	aminomethyltransferase	This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
http://nanbyodata.jp/ontology/NANDO_2200476	NANDO:2200476	AMT	http://identifiers.org/ncbigene/275	275	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:473	HGNC:473	aminomethyltransferase	This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
http://nanbyodata.jp/ontology/NANDO_2201403	NANDO:2201403	AMT	http://identifiers.org/ncbigene/275	275	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:473	HGNC:473	aminomethyltransferase	This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
http://nanbyodata.jp/ontology/NANDO_2201527	NANDO:2201527	ANAPC1	http://identifiers.org/ncbigene/64682	64682	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19988	HGNC:19988	anaphase promoting complex subunit 1	This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquitinating proteins which targets them for degradation. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_2201528	NANDO:2201528	ANAPC1	http://identifiers.org/ncbigene/64682	64682	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19988	HGNC:19988	anaphase promoting complex subunit 1	This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquitinating proteins which targets them for degradation. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_2200622	NANDO:2200622	ANK1	http://identifiers.org/ncbigene/286	286	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:492	HGNC:492	ankyrin 1	Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_2200227	NANDO:2200227	ANK2	http://identifiers.org/ncbigene/287	287	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:493	HGNC:493	ankyrin 2	This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_2200228	NANDO:2200228	ANK2	http://identifiers.org/ncbigene/287	287	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:493	HGNC:493	ankyrin 2	This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_2201022	NANDO:2201022	ANKH	http://identifiers.org/ncbigene/56172	56172	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15492	HGNC:15492	ANKH inorganic pyrophosphate transport regulator	This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201366	NANDO:2201366	ANKH	http://identifiers.org/ncbigene/56172	56172	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15492	HGNC:15492	ANKH inorganic pyrophosphate transport regulator	This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200659	NANDO:2200659	ANKRD26	http://identifiers.org/ncbigene/22852	22852	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29186	HGNC:29186	ankyrin repeat domain 26	This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_2200663	NANDO:2200663	ANKRD26	http://identifiers.org/ncbigene/22852	22852	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29186	HGNC:29186	ankyrin repeat domain 26	This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	ANKS6	http://identifiers.org/ncbigene/203286	203286	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26724	HGNC:26724	ankyrin repeat and sterile alpha motif domain containing 6	This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015]
http://nanbyodata.jp/ontology/NANDO_2200140	NANDO:2200140	ANKS6	http://identifiers.org/ncbigene/203286	203286	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26724	HGNC:26724	ankyrin repeat and sterile alpha motif domain containing 6	This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	ANO3	http://identifiers.org/ncbigene/63982	63982	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14004	HGNC:14004	anoctamin 3	The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
http://nanbyodata.jp/ontology/NANDO_1200216	NANDO:1200216	ANO5	http://identifiers.org/ncbigene/203859	203859	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:27337	HGNC:27337	anoctamin 5	This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	ANO5	http://identifiers.org/ncbigene/203859	203859	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:27337	HGNC:27337	anoctamin 5	This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_2200659	NANDO:2200659	ANO6	http://identifiers.org/ncbigene/196527	196527	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25240	HGNC:25240	anoctamin 6	This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2200671	NANDO:2200671	ANO6	http://identifiers.org/ncbigene/196527	196527	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25240	HGNC:25240	anoctamin 6	This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_1200380	NANDO:1200380	ANOS1	http://identifiers.org/ncbigene/3730	3730	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6211	HGNC:6211	anosmin 1	Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-protease activity. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200758	NANDO:1200758	AOX1	http://identifiers.org/ncbigene/316	316	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:553	HGNC:553	aldehyde oxidase 1	Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200764	NANDO:1200764	AOX1	http://identifiers.org/ncbigene/316	316	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:553	HGNC:553	aldehyde oxidase 1	Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200765	NANDO:1200765	AOX1	http://identifiers.org/ncbigene/316	316	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:553	HGNC:553	aldehyde oxidase 1	Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	AP3B1	http://identifiers.org/ncbigene/8546	8546	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:566	HGNC:566	adaptor related protein complex 3 subunit beta 1	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
http://nanbyodata.jp/ontology/NANDO_1200637	NANDO:1200637	AP3B1	http://identifiers.org/ncbigene/8546	8546	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:566	HGNC:566	adaptor related protein complex 3 subunit beta 1	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
http://nanbyodata.jp/ontology/NANDO_1200638	NANDO:1200638	AP3B1	http://identifiers.org/ncbigene/8546	8546	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:566	HGNC:566	adaptor related protein complex 3 subunit beta 1	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
http://nanbyodata.jp/ontology/NANDO_2200747	NANDO:2200747	AP3B1	http://identifiers.org/ncbigene/8546	8546	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:566	HGNC:566	adaptor related protein complex 3 subunit beta 1	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
http://nanbyodata.jp/ontology/NANDO_2200986	NANDO:2200986	AP3B1	http://identifiers.org/ncbigene/8546	8546	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:566	HGNC:566	adaptor related protein complex 3 subunit beta 1	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
http://nanbyodata.jp/ontology/NANDO_2200915	NANDO:2200915	APC	http://identifiers.org/ncbigene/324	324	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:583	HGNC:583	APC regulator of WNT signaling pathway	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Mutations in the APC gene have been found to occur in most colorectal cancers. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Dec 2019]
http://nanbyodata.jp/ontology/NANDO_1200209	NANDO:1200209	APOA1	http://identifiers.org/ncbigene/335	335	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:600	HGNC:600	apolipoprotein A1	This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_1200213	NANDO:1200213	APOA1	http://identifiers.org/ncbigene/335	335	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:600	HGNC:600	apolipoprotein A1	This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_2200605	NANDO:2200605	APOA1	http://identifiers.org/ncbigene/335	335	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:600	HGNC:600	apolipoprotein A1	This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_1200209	NANDO:1200209	APOA2	http://identifiers.org/ncbigene/336	336	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:601	HGNC:601	apolipoprotein A2	This gene encodes apolipoprotein (apo-) A-II, which is the second most abundant protein of the high density lipoprotein particles. The protein is found in plasma as a monomer, homodimer, or heterodimer with apolipoprotein D. Defects in this gene may result in apolipoprotein A-II deficiency or hypercholesterolemia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200213	NANDO:1200213	APOA2	http://identifiers.org/ncbigene/336	336	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:601	HGNC:601	apolipoprotein A2	This gene encodes apolipoprotein (apo-) A-II, which is the second most abundant protein of the high density lipoprotein particles. The protein is found in plasma as a monomer, homodimer, or heterodimer with apolipoprotein D. Defects in this gene may result in apolipoprotein A-II deficiency or hypercholesterolemia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200855	NANDO:1200855	APOA5	http://identifiers.org/ncbigene/116519	116519	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17288	HGNC:17288	apolipoprotein A5	The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2200601	NANDO:2200601	APOA5	http://identifiers.org/ncbigene/116519	116519	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17288	HGNC:17288	apolipoprotein A5	The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1201037	NANDO:1201037	APOB	http://identifiers.org/ncbigene/338	338	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:603	HGNC:603	apolipoprotein B	This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Dec 2019]
http://nanbyodata.jp/ontology/NANDO_1200209	NANDO:1200209	APOC2	http://identifiers.org/ncbigene/344	344	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:609	HGNC:609	apolipoprotein C2	This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring upstream apolipoprotein C-IV (APOC4) gene. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_1200213	NANDO:1200213	APOC2	http://identifiers.org/ncbigene/344	344	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:609	HGNC:609	apolipoprotein C2	This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring upstream apolipoprotein C-IV (APOC4) gene. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_1200855	NANDO:1200855	APOC2	http://identifiers.org/ncbigene/344	344	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:609	HGNC:609	apolipoprotein C2	This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring upstream apolipoprotein C-IV (APOC4) gene. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2200601	NANDO:2200601	APOC2	http://identifiers.org/ncbigene/344	344	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:609	HGNC:609	apolipoprotein C2	This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring upstream apolipoprotein C-IV (APOC4) gene. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_1200209	NANDO:1200209	APOC3	http://identifiers.org/ncbigene/345	345	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:610	HGNC:610	apolipoprotein C3	This gene encodes a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. The encoded protein plays a role in role in the metabolism of these TRLs through multiple modes. This protein has been shown to promote the secretion of VLDL1, inhibit lipoprotein lipase enzyme activity, and delay catabolism of TRL remnants. Mutations in this gene are associated with low plasma triglyceride levels and reduced risk of ischemic cardiovascular disease, and hyperalphalipoproteinemia, which is characterized by elevated levels of high density lipoprotein (HDL) and HDL cholesterol in human patients. This gene and other related genes comprise an apolipoprotein gene cluster on chromosome 11. [provided by RefSeq, Sep 2017]
http://nanbyodata.jp/ontology/NANDO_1200213	NANDO:1200213	APOC3	http://identifiers.org/ncbigene/345	345	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:610	HGNC:610	apolipoprotein C3	This gene encodes a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. The encoded protein plays a role in role in the metabolism of these TRLs through multiple modes. This protein has been shown to promote the secretion of VLDL1, inhibit lipoprotein lipase enzyme activity, and delay catabolism of TRL remnants. Mutations in this gene are associated with low plasma triglyceride levels and reduced risk of ischemic cardiovascular disease, and hyperalphalipoproteinemia, which is characterized by elevated levels of high density lipoprotein (HDL) and HDL cholesterol in human patients. This gene and other related genes comprise an apolipoprotein gene cluster on chromosome 11. [provided by RefSeq, Sep 2017]
http://nanbyodata.jp/ontology/NANDO_2200603	NANDO:2200603	APOE	http://identifiers.org/ncbigene/348	348	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:613	HGNC:613	apolipoprotein E	The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	APOL1	http://identifiers.org/ncbigene/8542	8542	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:618	HGNC:618	apolipoprotein L1	This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_2200765	NANDO:2200765	APOL1	http://identifiers.org/ncbigene/8542	8542	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:618	HGNC:618	apolipoprotein L1	This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_2200774	NANDO:2200774	APOL1	http://identifiers.org/ncbigene/8542	8542	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:618	HGNC:618	apolipoprotein L1	This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_2200587	NANDO:2200587	APRT	http://identifiers.org/ncbigene/353	353	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:626	HGNC:626	adenine phosphoribosyltransferase	Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	APTX	http://identifiers.org/ncbigene/54840	54840	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15984	HGNC:15984	aprataxin	This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_2200882	NANDO:2200882	APTX	http://identifiers.org/ncbigene/54840	54840	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15984	HGNC:15984	aprataxin	This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_1200742	NANDO:1200742	AQP2	http://identifiers.org/ncbigene/359	359	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:634	HGNC:634	aquaporin 2	This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200326	NANDO:2200326	AQP2	http://identifiers.org/ncbigene/359	359	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:634	HGNC:634	aquaporin 2	This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200001	NANDO:1200001	AR	http://identifiers.org/ncbigene/367	367	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:644	HGNC:644	androgen receptor	The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract from the normal 9-34 repeats to the pathogenic 38-62 repeats causes spinal bulbar muscular atrophy (SBMA, also known as Kennedy's disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]
http://nanbyodata.jp/ontology/NANDO_2200391	NANDO:2200391	AR	http://identifiers.org/ncbigene/367	367	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:644	HGNC:644	androgen receptor	The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract from the normal 9-34 repeats to the pathogenic 38-62 repeats causes spinal bulbar muscular atrophy (SBMA, also known as Kennedy's disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]
http://nanbyodata.jp/ontology/NANDO_2200031	NANDO:2200031	ARAF	http://identifiers.org/ncbigene/369	369	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:646	HGNC:646	A-Raf proto-oncogene, serine/threonine kinase	This proto-oncogene belongs to the RAF subfamily of the Ser/Thr protein kinase family, and maybe involved in cell growth and development. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2012]
http://nanbyodata.jp/ontology/NANDO_1200802	NANDO:1200802	ARG1	http://identifiers.org/ncbigene/383	383	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:663	HGNC:663	arginase 1	Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
http://nanbyodata.jp/ontology/NANDO_1200807	NANDO:1200807	ARG1	http://identifiers.org/ncbigene/383	383	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:663	HGNC:663	arginase 1	Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
http://nanbyodata.jp/ontology/NANDO_2200482	NANDO:2200482	ARG1	http://identifiers.org/ncbigene/383	383	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:663	HGNC:663	arginase 1	Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	ARHGEF10	http://identifiers.org/ncbigene/9639	9639	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14103	HGNC:14103	Rho guanine nucleotide exchange factor 10	This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Mutations in this gene are associated with slowed nerve conduction velocity (SNCV). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
http://nanbyodata.jp/ontology/NANDO_1200670	NANDO:1200670	ARID1A	http://identifiers.org/ncbigene/8289	8289	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11110	HGNC:11110	AT-rich interaction domain 1A	This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200977	NANDO:2200977	ARID1A	http://identifiers.org/ncbigene/8289	8289	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11110	HGNC:11110	AT-rich interaction domain 1A	This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200670	NANDO:1200670	ARID1B	http://identifiers.org/ncbigene/57492	57492	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18040	HGNC:18040	AT-rich interaction domain 1B	This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
http://nanbyodata.jp/ontology/NANDO_2200977	NANDO:2200977	ARID1B	http://identifiers.org/ncbigene/57492	57492	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18040	HGNC:18040	AT-rich interaction domain 1B	This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	ARL13B	http://identifiers.org/ncbigene/200894	200894	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25419	HGNC:25419	ADP ribosylation factor like GTPase 13B	This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	ARL3	http://identifiers.org/ncbigene/403	403	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:694	HGNC:694	ADP ribosylation factor like GTPase 3	ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200414	NANDO:2200414	ARL6	http://identifiers.org/ncbigene/84100	84100	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13210	HGNC:13210	ADP ribosylation factor like GTPase 6	The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). A vision-specific transcript, encoding long isoform BBS3L, has been described (PMID: 20333246). [provided by RefSeq, Apr 2016]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	ARSA	http://identifiers.org/ncbigene/410	410	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:713	HGNC:713	arylsulfatase A	The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]
http://nanbyodata.jp/ontology/NANDO_1200078	NANDO:1200078	ARSA	http://identifiers.org/ncbigene/410	410	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:713	HGNC:713	arylsulfatase A	The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]
http://nanbyodata.jp/ontology/NANDO_2200560	NANDO:2200560	ARSA	http://identifiers.org/ncbigene/410	410	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:713	HGNC:713	arylsulfatase A	The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	ARSB	http://identifiers.org/ncbigene/411	411	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:714	HGNC:714	arylsulfatase B	Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targeted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_1200108	NANDO:1200108	ARSB	http://identifiers.org/ncbigene/411	411	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:714	HGNC:714	arylsulfatase B	Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targeted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_2200551	NANDO:2200551	ARSB	http://identifiers.org/ncbigene/411	411	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:714	HGNC:714	arylsulfatase B	Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targeted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_2201017	NANDO:2201017	ARSL	http://identifiers.org/ncbigene/415	415	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:719	HGNC:719	arylsulfatase L	Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome. [provided by RefSeq, Sep 2013]
http://nanbyodata.jp/ontology/NANDO_2201356	NANDO:2201356	ARSL	http://identifiers.org/ncbigene/415	415	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:719	HGNC:719	arylsulfatase L	Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome. [provided by RefSeq, Sep 2013]
http://nanbyodata.jp/ontology/NANDO_1200592	NANDO:1200592	ARX	http://identifiers.org/ncbigene/170302	170302	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18060	HGNC:18060	aristaless related homeobox	This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Expansion of a polyalanine tract and other mutations in this gene cause X-linked cognitive disability and epilepsy. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_1200593	NANDO:1200593	ARX	http://identifiers.org/ncbigene/170302	170302	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18060	HGNC:18060	aristaless related homeobox	This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Expansion of a polyalanine tract and other mutations in this gene cause X-linked cognitive disability and epilepsy. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2200383	NANDO:2200383	ARX	http://identifiers.org/ncbigene/170302	170302	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18060	HGNC:18060	aristaless related homeobox	This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Expansion of a polyalanine tract and other mutations in this gene cause X-linked cognitive disability and epilepsy. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2200392	NANDO:2200392	ARX	http://identifiers.org/ncbigene/170302	170302	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18060	HGNC:18060	aristaless related homeobox	This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Expansion of a polyalanine tract and other mutations in this gene cause X-linked cognitive disability and epilepsy. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2200878	NANDO:2200878	ARX	http://identifiers.org/ncbigene/170302	170302	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18060	HGNC:18060	aristaless related homeobox	This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Expansion of a polyalanine tract and other mutations in this gene cause X-linked cognitive disability and epilepsy. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2201398	NANDO:2201398	ARX	http://identifiers.org/ncbigene/170302	170302	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18060	HGNC:18060	aristaless related homeobox	This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Expansion of a polyalanine tract and other mutations in this gene cause X-linked cognitive disability and epilepsy. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	ASAH1	http://identifiers.org/ncbigene/427	427	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:735	HGNC:735	N-acylsphingosine amidohydrolase 1	This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200086	NANDO:1200086	ASAH1	http://identifiers.org/ncbigene/427	427	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:735	HGNC:735	N-acylsphingosine amidohydrolase 1	This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_2200565	NANDO:2200565	ASAH1	http://identifiers.org/ncbigene/427	427	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:735	HGNC:735	N-acylsphingosine amidohydrolase 1	This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200802	NANDO:1200802	ASL	http://identifiers.org/ncbigene/435	435	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:746	HGNC:746	argininosuccinate lyase	This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200806	NANDO:1200806	ASL	http://identifiers.org/ncbigene/435	435	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:746	HGNC:746	argininosuccinate lyase	This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200481	NANDO:2200481	ASL	http://identifiers.org/ncbigene/435	435	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:746	HGNC:746	argininosuccinate lyase	This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200948	NANDO:1200948	ASPA	http://identifiers.org/ncbigene/443	443	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:756	HGNC:756	aspartoacylase	This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200834	NANDO:2200834	ASPA	http://identifiers.org/ncbigene/443	443	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:756	HGNC:756	aspartoacylase	This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200063	NANDO:2200063	ASPSCR1	http://identifiers.org/ncbigene/79058	79058	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13825	HGNC:13825	ASPSCR1 tether for SLC2A4, UBX domain containing	The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011]
http://nanbyodata.jp/ontology/NANDO_1200802	NANDO:1200802	ASS1	http://identifiers.org/ncbigene/445	445	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:758	HGNC:758	argininosuccinate synthase 1	The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_1200805	NANDO:1200805	ASS1	http://identifiers.org/ncbigene/445	445	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:758	HGNC:758	argininosuccinate synthase 1	The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_2200480	NANDO:2200480	ASS1	http://identifiers.org/ncbigene/445	445	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:758	HGNC:758	argininosuccinate synthase 1	The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_2201415	NANDO:2201415	ASXL3	http://identifiers.org/ncbigene/80816	80816	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29357	HGNC:29357	ASXL transcriptional regulator 3	This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcriptional activity of two nuclear hormone receptors, oxysterols receptor LXR-alpha (LXRalpha) and thyroid hormone receptor beta (TRbeta). The encoded protein may also inhibit histone deubiquitination. Mutations in this gene have been identified in human patients with Bainbridge-Ropers syndrome, which is characterized by feeding difficulties, developmental delay and other features. [provided by RefSeq, May 2017]
http://nanbyodata.jp/ontology/NANDO_2201416	NANDO:2201416	ASXL3	http://identifiers.org/ncbigene/80816	80816	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29357	HGNC:29357	ASXL transcriptional regulator 3	This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcriptional activity of two nuclear hormone receptors, oxysterols receptor LXR-alpha (LXRalpha) and thyroid hormone receptor beta (TRbeta). The encoded protein may also inhibit histone deubiquitination. Mutations in this gene have been identified in human patients with Bainbridge-Ropers syndrome, which is characterized by feeding difficulties, developmental delay and other features. [provided by RefSeq, May 2017]
http://nanbyodata.jp/ontology/NANDO_2200062	NANDO:2200062	ATF1	http://identifiers.org/ncbigene/466	466	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:783	HGNC:783	activating transcription factor 1	This gene encodes an activating transcription factor, which belongs to the ATF subfamily and bZIP (basic-region leucine zipper) family. It influences cellular physiologic processes by regulating the expression of downstream target genes, which are related to growth, survival, and other cellular activities. This protein is phosphorylated at serine 63 in its kinase-inducible domain by serine/threonine kinases, cAMP-dependent protein kinase A, calmodulin-dependent protein kinase I/II, mitogen- and stress-activated protein kinase and cyclin-dependent kinase 3 (cdk-3). Its phosphorylation enhances its transactivation and transcriptional activities, and enhances cell transformation. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in angiomatoid fibrous histiocytoma and clear cell sarcoma. This gene has a pseudogene on chromosome 6. [provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	ATM	http://identifiers.org/ncbigene/472	472	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:795	HGNC:795	ATM serine/threonine kinase	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_1200331	NANDO:1200331	ATM	http://identifiers.org/ncbigene/472	472	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:795	HGNC:795	ATM serine/threonine kinase	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_2200705	NANDO:2200705	ATM	http://identifiers.org/ncbigene/472	472	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:795	HGNC:795	ATM serine/threonine kinase	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_1200037	NANDO:1200037	ATN1	http://identifiers.org/ncbigene/1822	1822	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3033	HGNC:3033	atrophin 1	Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_1200542	NANDO:1200542	ATP13A2	http://identifiers.org/ncbigene/23400	23400	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30213	HGNC:30213	ATPase cation transporting 13A2	This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	ATP1A3	http://identifiers.org/ncbigene/478	478	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:801	HGNC:801	ATPase Na+/K+ transporting subunit alpha 3	The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
http://nanbyodata.jp/ontology/NANDO_1200523	NANDO:1200523	ATP1A3	http://identifiers.org/ncbigene/478	478	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:801	HGNC:801	ATPase Na+/K+ transporting subunit alpha 3	The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
http://nanbyodata.jp/ontology/NANDO_1200524	NANDO:1200524	ATP1A3	http://identifiers.org/ncbigene/478	478	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:801	HGNC:801	ATPase Na+/K+ transporting subunit alpha 3	The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
http://nanbyodata.jp/ontology/NANDO_1200525	NANDO:1200525	ATP1A3	http://identifiers.org/ncbigene/478	478	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:801	HGNC:801	ATPase Na+/K+ transporting subunit alpha 3	The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
http://nanbyodata.jp/ontology/NANDO_1200526	NANDO:1200526	ATP1A3	http://identifiers.org/ncbigene/478	478	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:801	HGNC:801	ATPase Na+/K+ transporting subunit alpha 3	The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
http://nanbyodata.jp/ontology/NANDO_2200883	NANDO:2200883	ATP1A3	http://identifiers.org/ncbigene/478	478	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:801	HGNC:801	ATPase Na+/K+ transporting subunit alpha 3	The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
http://nanbyodata.jp/ontology/NANDO_1200631	NANDO:1200631	ATP2C1	http://identifiers.org/ncbigene/27032	27032	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13211	HGNC:13211	ATPase secretory pathway Ca2+ transporting 1	The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_1200653	NANDO:1200653	ATP7A	http://identifiers.org/ncbigene/538	538	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:869	HGNC:869	ATPase copper transporting alpha	This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]
http://nanbyodata.jp/ontology/NANDO_1200654	NANDO:1200654	ATP7A	http://identifiers.org/ncbigene/538	538	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:869	HGNC:869	ATPase copper transporting alpha	This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]
http://nanbyodata.jp/ontology/NANDO_2200580	NANDO:2200580	ATP7A	http://identifiers.org/ncbigene/538	538	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:869	HGNC:869	ATPase copper transporting alpha	This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]
http://nanbyodata.jp/ontology/NANDO_2200581	NANDO:2200581	ATP7A	http://identifiers.org/ncbigene/538	538	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:869	HGNC:869	ATPase copper transporting alpha	This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]
http://nanbyodata.jp/ontology/NANDO_1200655	NANDO:1200655	ATP7B	http://identifiers.org/ncbigene/540	540	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:870	HGNC:870	ATPase copper transporting beta	This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein is a monomer, and functions as a copper-transporting ATPase which exports copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease which is characterized by copper accumulation. [provided by RefSeq, Dec 2019]
http://nanbyodata.jp/ontology/NANDO_2200187	NANDO:2200187	ATP7B	http://identifiers.org/ncbigene/540	540	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:870	HGNC:870	ATPase copper transporting beta	This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein is a monomer, and functions as a copper-transporting ATPase which exports copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease which is characterized by copper accumulation. [provided by RefSeq, Dec 2019]
http://nanbyodata.jp/ontology/NANDO_2200579	NANDO:2200579	ATP7B	http://identifiers.org/ncbigene/540	540	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:870	HGNC:870	ATPase copper transporting beta	This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein is a monomer, and functions as a copper-transporting ATPase which exports copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease which is characterized by copper accumulation. [provided by RefSeq, Dec 2019]
http://nanbyodata.jp/ontology/NANDO_1201042	NANDO:1201042	ATP8B1	http://identifiers.org/ncbigene/5205	5205	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3706	HGNC:3706	ATPase phospholipid transporting 8B1	This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201043	NANDO:1201043	ATP8B1	http://identifiers.org/ncbigene/5205	5205	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3706	HGNC:3706	ATPase phospholipid transporting 8B1	This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200933	NANDO:2200933	ATP8B1	http://identifiers.org/ncbigene/5205	5205	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3706	HGNC:3706	ATPase phospholipid transporting 8B1	This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201436	NANDO:2201436	ATP8B1	http://identifiers.org/ncbigene/5205	5205	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3706	HGNC:3706	ATPase phospholipid transporting 8B1	This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200665	NANDO:1200665	ATRX	http://identifiers.org/ncbigene/546	546	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:886	HGNC:886	ATRX chromatin remodeler	The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017]
http://nanbyodata.jp/ontology/NANDO_2200383	NANDO:2200383	ATRX	http://identifiers.org/ncbigene/546	546	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:886	HGNC:886	ATRX chromatin remodeler	The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017]
http://nanbyodata.jp/ontology/NANDO_2200392	NANDO:2200392	ATRX	http://identifiers.org/ncbigene/546	546	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:886	HGNC:886	ATRX chromatin remodeler	The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017]
http://nanbyodata.jp/ontology/NANDO_2200839	NANDO:2200839	ATRX	http://identifiers.org/ncbigene/546	546	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:886	HGNC:886	ATRX chromatin remodeler	The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017]
http://nanbyodata.jp/ontology/NANDO_1200037	NANDO:1200037	ATXN1	http://identifiers.org/ncbigene/6310	6310	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10548	HGNC:10548	ataxin 1	The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). Alternative splicing results in multiple transcript variants, with one variant encoding multiple distinct proteins, ATXN1 and Alt-ATXN1, due to the use of overlapping alternate reading frames. [provided by RefSeq, Nov 2017]
http://nanbyodata.jp/ontology/NANDO_2200882	NANDO:2200882	ATXN1	http://identifiers.org/ncbigene/6310	6310	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10548	HGNC:10548	ataxin 1	The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). Alternative splicing results in multiple transcript variants, with one variant encoding multiple distinct proteins, ATXN1 and Alt-ATXN1, due to the use of overlapping alternate reading frames. [provided by RefSeq, Nov 2017]
http://nanbyodata.jp/ontology/NANDO_1200037	NANDO:1200037	ATXN10	http://identifiers.org/ncbigene/25814	25814	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10549	HGNC:10549	ataxin 10	This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2200882	NANDO:2200882	ATXN10	http://identifiers.org/ncbigene/25814	25814	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10549	HGNC:10549	ataxin 10	This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_1200037	NANDO:1200037	ATXN2	http://identifiers.org/ncbigene/6311	6311	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10555	HGNC:10555	ataxin 2	This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
http://nanbyodata.jp/ontology/NANDO_2200882	NANDO:2200882	ATXN2	http://identifiers.org/ncbigene/6311	6311	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10555	HGNC:10555	ataxin 2	This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
http://nanbyodata.jp/ontology/NANDO_1200037	NANDO:1200037	ATXN3	http://identifiers.org/ncbigene/4287	4287	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7106	HGNC:7106	ataxin 3	Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2200882	NANDO:2200882	ATXN3	http://identifiers.org/ncbigene/4287	4287	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7106	HGNC:7106	ataxin 3	Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_1200037	NANDO:1200037	ATXN7	http://identifiers.org/ncbigene/6314	6314	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10560	HGNC:10560	ataxin 7	The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 37-306 CAG repeats (near the N-terminus), compared to 4-35 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2200882	NANDO:2200882	ATXN8	http://identifiers.org/ncbigene/724066	724066	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:32925	HGNC:32925	ataxin 8	Spinocerebellar ataxia-8 (SCA8; {608768}) is a neurodegenerative disorder caused by a CTG/CAG trinucleotide repeat expansion on chromosome 13q21 (see {603680.0001} and {613289.0001}). Two genes span the CTG/CAG repeat and are expressed in opposite directions: ATXN8, which encodes a nearly pure polyglutamine expansion protein in the CAG direction, and ATXN8OS ({603680}), which, when transcribed, produces a noncoding CUG expansion RNA ({2:Moseley et al., 2006}).[supplied by OMIM, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200037	NANDO:1200037	ATXN8OS	http://identifiers.org/ncbigene/6315	6315	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10561	HGNC:10561	ATXN8 opposite strand lncRNA	This gene is an antisense transcript to the KLHL1 gene (homolog to the Drosophila KELCH gene); it does not itself appear to be protein coding. A TAC/TGC trinucleotide repeat expansion that is incorporated into this gene transcript, but not the KLHL1 transcript, causes spinocerebellar ataxia type 8. Presumably the expansion interferes with normal antisense function of this transcript. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200882	NANDO:2200882	ATXN8OS	http://identifiers.org/ncbigene/6315	6315	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10561	HGNC:10561	ATXN8 opposite strand lncRNA	This gene is an antisense transcript to the KLHL1 gene (homolog to the Drosophila KELCH gene); it does not itself appear to be protein coding. A TAC/TGC trinucleotide repeat expansion that is incorporated into this gene transcript, but not the KLHL1 transcript, causes spinocerebellar ataxia type 8. Presumably the expansion interferes with normal antisense function of this transcript. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200989	NANDO:1200989	AUH	http://identifiers.org/ncbigene/549	549	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:890	HGNC:890	AU RNA binding methylglutaconyl-CoA hydratase	This gene encodes bifunctional mitochondrial protein that has both RNA-binding and hydratase activities. The encoded protein is a methylglutaconyl-CoA hydratase that catalyzes the hydration of 3-methylglutaconyl-CoA to 3-hydroxy-3-methyl-glutaryl-CoA, a critical step in the leucine degradation pathway. This protein also binds AU-rich elements (AREs) found in the 3' UTRs of rapidly decaying mRNAs including c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. This protein is localizes to the mitochondrial matrix and the inner mitochondrial membrane and may be involved in mitochondrial protein synthesis. Mutations in this gene are the cause of 3-methylglutaconic aciduria, type I. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
http://nanbyodata.jp/ontology/NANDO_1200990	NANDO:1200990	AUH	http://identifiers.org/ncbigene/549	549	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:890	HGNC:890	AU RNA binding methylglutaconyl-CoA hydratase	This gene encodes bifunctional mitochondrial protein that has both RNA-binding and hydratase activities. The encoded protein is a methylglutaconyl-CoA hydratase that catalyzes the hydration of 3-methylglutaconyl-CoA to 3-hydroxy-3-methyl-glutaryl-CoA, a critical step in the leucine degradation pathway. This protein also binds AU-rich elements (AREs) found in the 3' UTRs of rapidly decaying mRNAs including c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. This protein is localizes to the mitochondrial matrix and the inner mitochondrial membrane and may be involved in mitochondrial protein synthesis. Mutations in this gene are the cause of 3-methylglutaconic aciduria, type I. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
http://nanbyodata.jp/ontology/NANDO_2200496	NANDO:2200496	AUH	http://identifiers.org/ncbigene/549	549	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:890	HGNC:890	AU RNA binding methylglutaconyl-CoA hydratase	This gene encodes bifunctional mitochondrial protein that has both RNA-binding and hydratase activities. The encoded protein is a methylglutaconyl-CoA hydratase that catalyzes the hydration of 3-methylglutaconyl-CoA to 3-hydroxy-3-methyl-glutaryl-CoA, a critical step in the leucine degradation pathway. This protein also binds AU-rich elements (AREs) found in the 3' UTRs of rapidly decaying mRNAs including c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. This protein is localizes to the mitochondrial matrix and the inner mitochondrial membrane and may be involved in mitochondrial protein synthesis. Mutations in this gene are the cause of 3-methylglutaconic aciduria, type I. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
http://nanbyodata.jp/ontology/NANDO_2200324	NANDO:2200324	AVP	http://identifiers.org/ncbigene/551	551	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:894	HGNC:894	arginine vasopressin	This gene encodes a member of the vasopressin/oxytocin family and preproprotein that is proteolytically processed to generate multiple protein products. These products include the neuropeptide hormone arginine vasopressin, and two other peptides, neurophysin 2 and copeptin. Arginine vasopressin is a posterior pituitary hormone that is synthesized in the supraoptic nucleus and paraventricular nucleus of the hypothalamus. Along with its carrier protein, neurophysin 2, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis where it is either stored or secreted into the bloodstream. The precursor is thought to be activated while it is being transported along the axon to the posterior pituitary. Arginine vasopressin acts as a growth factor by enhancing pH regulation through acid-base transport systems. It has a direct antidiuretic action on the kidney, and also causes vasoconstriction of the peripheral vessels. This hormone can contract smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. Mutations in this gene cause autosomal dominant neurohypophyseal diabetes insipidus (ADNDI). This gene is present in a gene cluster with the related gene oxytocin on chromosome 20. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_1200742	NANDO:1200742	AVPR2	http://identifiers.org/ncbigene/554	554	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:897	HGNC:897	arginine vasopressin receptor 2	This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that includes the V2 receptor, the V1a and V1b vasopressin receptors, the oxytocin receptor, and isotocin and mesotocin receptors in non-mammals, is well conserved, though several members signal via other G proteins. All bind similar cyclic nonapeptide hormones. The V2 receptor is expressed in the kidney tubule, predominantly in the distal convoluted tubule and collecting ducts, where its primary property is to respond to the pituitary hormone arginine vasopressin (AVP) by stimulating mechanisms that concentrate the urine and maintain water homeostasis in the organism. When the function of this gene is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The V2 receptor is also expressed outside the kidney although its tissue localization is uncertain. When these 'extrarenal receptors' are stimulated by infusion of a V2 selective agonist (dDAVP), a variety of clotting factors are released into the bloodstream. The physiologic importance of this property is not known - its absence does not appear to be detrimental in NDI patients. The gene expression has also been described in fetal lung tissue and lung cancer associated with alternative splicing. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200326	NANDO:2200326	AVPR2	http://identifiers.org/ncbigene/554	554	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:897	HGNC:897	arginine vasopressin receptor 2	This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that includes the V2 receptor, the V1a and V1b vasopressin receptors, the oxytocin receptor, and isotocin and mesotocin receptors in non-mammals, is well conserved, though several members signal via other G proteins. All bind similar cyclic nonapeptide hormones. The V2 receptor is expressed in the kidney tubule, predominantly in the distal convoluted tubule and collecting ducts, where its primary property is to respond to the pituitary hormone arginine vasopressin (AVP) by stimulating mechanisms that concentrate the urine and maintain water homeostasis in the organism. When the function of this gene is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The V2 receptor is also expressed outside the kidney although its tissue localization is uncertain. When these 'extrarenal receptors' are stimulated by infusion of a V2 selective agonist (dDAVP), a variety of clotting factors are released into the bloodstream. The physiologic importance of this property is not known - its absence does not appear to be detrimental in NDI patients. The gene expression has also been described in fetal lung tissue and lung cancer associated with alternative splicing. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200134	NANDO:2200134	ApoE	http://identifiers.org/ncbigene/348	348	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:613	HGNC:613	apolipoprotein E	The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016]
http://nanbyodata.jp/ontology/NANDO_1200209	NANDO:1200209	B2M	http://identifiers.org/ncbigene/567	567	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:914	HGNC:914	beta-2-microglobulin	This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 2014]
http://nanbyodata.jp/ontology/NANDO_1200213	NANDO:1200213	B2M	http://identifiers.org/ncbigene/567	567	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:914	HGNC:914	beta-2-microglobulin	This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 2014]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	B3GALNT2	http://identifiers.org/ncbigene/148789	148789	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28596	HGNC:28596	beta-1,3-N-acetylgalactosaminyltransferase 2	This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]
http://nanbyodata.jp/ontology/NANDO_1200645	NANDO:1200645	B3GALT6	http://identifiers.org/ncbigene/126792	126792	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17978	HGNC:17978	beta-1,3-galactosyltransferase 6	The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. [provided by RefSeq, Jun 2013]
http://nanbyodata.jp/ontology/NANDO_1201088	NANDO:1201088	B3GALT6	http://identifiers.org/ncbigene/126792	126792	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17978	HGNC:17978	beta-1,3-galactosyltransferase 6	The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. [provided by RefSeq, Jun 2013]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	B3GNT2	http://identifiers.org/ncbigene/10678	10678	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15629	HGNC:15629	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It prefers the substrate of lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1200645	NANDO:1200645	B4GALT7	http://identifiers.org/ncbigene/11285	11285	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:930	HGNC:930	beta-1,4-galactosyltransferase 7	This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1201088	NANDO:1201088	B4GALT7	http://identifiers.org/ncbigene/11285	11285	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:930	HGNC:930	beta-1,4-galactosyltransferase 7	This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	B9D1	http://identifiers.org/ncbigene/27077	27077	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24123	HGNC:24123	B9 domain containing 1	This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	B9D2	http://identifiers.org/ncbigene/80776	80776	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28636	HGNC:28636	B9 domain containing 2	This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2200506	NANDO:2200506	BAAT	http://identifiers.org/ncbigene/570	570	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:932	HGNC:932	bile acid-CoA:amino acid N-acyltransferase	The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	BAG3	http://identifiers.org/ncbigene/9531	9531	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:939	HGNC:939	BAG cochaperone 3	BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200032	NANDO:1200032	BAG3	http://identifiers.org/ncbigene/9531	9531	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:939	HGNC:939	BAG cochaperone 3	BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200216	NANDO:1200216	BAG3	http://identifiers.org/ncbigene/9531	9531	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:939	HGNC:939	BAG cochaperone 3	BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200414	NANDO:2200414	BBS1	http://identifiers.org/ncbigene/582	582	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:966	HGNC:966	Bardet-Biedl syndrome 1	Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200414	NANDO:2200414	BBS10	http://identifiers.org/ncbigene/79738	79738	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26291	HGNC:26291	Bardet-Biedl syndrome 10	This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_2200414	NANDO:2200414	BBS12	http://identifiers.org/ncbigene/166379	166379	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26648	HGNC:26648	Bardet-Biedl syndrome 12	The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2200414	NANDO:2200414	BBS2	http://identifiers.org/ncbigene/583	583	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:967	HGNC:967	Bardet-Biedl syndrome 2	This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]
http://nanbyodata.jp/ontology/NANDO_2200414	NANDO:2200414	BBS4	http://identifiers.org/ncbigene/585	585	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:969	HGNC:969	Bardet-Biedl syndrome 4	"This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein ""BBSome"" complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]"
http://nanbyodata.jp/ontology/NANDO_2200414	NANDO:2200414	BBS5	http://identifiers.org/ncbigene/129880	129880	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:970	HGNC:970	Bardet-Biedl syndrome 5	This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200414	NANDO:2200414	BBS7	http://identifiers.org/ncbigene/55212	55212	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18758	HGNC:18758	Bardet-Biedl syndrome 7	This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]
http://nanbyodata.jp/ontology/NANDO_2200414	NANDO:2200414	BBS9	http://identifiers.org/ncbigene/27241	27241	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30000	HGNC:30000	Bardet-Biedl syndrome 9	This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017]
http://nanbyodata.jp/ontology/NANDO_2200001	NANDO:2200001	BCR	http://identifiers.org/ncbigene/613	613	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1014	HGNC:1014	BCR activator of RhoGEF and GTPase	A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The unregulated tyrosine kinase activity of BCR-ABL1 contributes to the immortality of leukaemic cells. The BCR protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac and other kinases. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2020]
http://nanbyodata.jp/ontology/NANDO_2200005	NANDO:2200005	BCR	http://identifiers.org/ncbigene/613	613	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1014	HGNC:1014	BCR activator of RhoGEF and GTPase	A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The unregulated tyrosine kinase activity of BCR-ABL1 contributes to the immortality of leukaemic cells. The BCR protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac and other kinases. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2020]
http://nanbyodata.jp/ontology/NANDO_2200006	NANDO:2200006	BCR	http://identifiers.org/ncbigene/613	613	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1014	HGNC:1014	BCR activator of RhoGEF and GTPase	A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The unregulated tyrosine kinase activity of BCR-ABL1 contributes to the immortality of leukaemic cells. The BCR protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac and other kinases. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2020]
http://nanbyodata.jp/ontology/NANDO_2200007	NANDO:2200007	BCR	http://identifiers.org/ncbigene/613	613	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1014	HGNC:1014	BCR activator of RhoGEF and GTPase	A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The unregulated tyrosine kinase activity of BCR-ABL1 contributes to the immortality of leukaemic cells. The BCR protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac and other kinases. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2020]
http://nanbyodata.jp/ontology/NANDO_2200008	NANDO:2200008	BCR	http://identifiers.org/ncbigene/613	613	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1014	HGNC:1014	BCR activator of RhoGEF and GTPase	A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The unregulated tyrosine kinase activity of BCR-ABL1 contributes to the immortality of leukaemic cells. The BCR protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac and other kinases. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2020]
http://nanbyodata.jp/ontology/NANDO_2200009	NANDO:2200009	BCR	http://identifiers.org/ncbigene/613	613	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1014	HGNC:1014	BCR activator of RhoGEF and GTPase	A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The unregulated tyrosine kinase activity of BCR-ABL1 contributes to the immortality of leukaemic cells. The BCR protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac and other kinases. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2020]
http://nanbyodata.jp/ontology/NANDO_2200010	NANDO:2200010	BCR	http://identifiers.org/ncbigene/613	613	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1014	HGNC:1014	BCR activator of RhoGEF and GTPase	A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The unregulated tyrosine kinase activity of BCR-ABL1 contributes to the immortality of leukaemic cells. The BCR protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac and other kinases. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2020]
http://nanbyodata.jp/ontology/NANDO_2200011	NANDO:2200011	BCR	http://identifiers.org/ncbigene/613	613	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1014	HGNC:1014	BCR activator of RhoGEF and GTPase	A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The unregulated tyrosine kinase activity of BCR-ABL1 contributes to the immortality of leukaemic cells. The BCR protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac and other kinases. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2020]
http://nanbyodata.jp/ontology/NANDO_2200013	NANDO:2200013	BCR	http://identifiers.org/ncbigene/613	613	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1014	HGNC:1014	BCR activator of RhoGEF and GTPase	A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The unregulated tyrosine kinase activity of BCR-ABL1 contributes to the immortality of leukaemic cells. The BCR protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac and other kinases. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2020]
http://nanbyodata.jp/ontology/NANDO_2200015	NANDO:2200015	BCR	http://identifiers.org/ncbigene/613	613	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1014	HGNC:1014	BCR activator of RhoGEF and GTPase	A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The unregulated tyrosine kinase activity of BCR-ABL1 contributes to the immortality of leukaemic cells. The BCR protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac and other kinases. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2020]
http://nanbyodata.jp/ontology/NANDO_1200037	NANDO:1200037	BEAN1	http://identifiers.org/ncbigene/146227	146227	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24160	HGNC:24160	brain expressed associated with NEDD4 1	The protein encoded by this gene is one of several proteins that interact with NEDD4, a member of a family of ubiquitin-protein ligases. These proteins have PY motifs in common that bind to the WW domains of NEDD4. NEDD4 is developmentally regulated, and is highly expressed in embryonic tissues. Mutations in this gene (i.e., intronic insertions of >100 copies of pentanucleotide repeats including a (TGGAA)n sequence) are associated with spinocerebellar ataxia type 31. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_1200477	NANDO:1200477	BIN1	http://identifiers.org/ncbigene/274	274	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1052	HGNC:1052	bridging integrator 1	This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016]
http://nanbyodata.jp/ontology/NANDO_1200481	NANDO:1200481	BIN1	http://identifiers.org/ncbigene/274	274	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1052	HGNC:1052	bridging integrator 1	This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016]
http://nanbyodata.jp/ontology/NANDO_1200482	NANDO:1200482	BIN1	http://identifiers.org/ncbigene/274	274	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1052	HGNC:1052	bridging integrator 1	This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016]
http://nanbyodata.jp/ontology/NANDO_2200867	NANDO:2200867	BIN1	http://identifiers.org/ncbigene/274	274	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1052	HGNC:1052	bridging integrator 1	This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	BLM	http://identifiers.org/ncbigene/641	641	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1058	HGNC:1058	BLM RecQ like helicase	The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromosome 15q26. This Bloom-associated helicase unwinds a variety of DNA substrates including Holliday junction, and is involved in several pathways contributing to the maintenance of genome stability. Identification of pathogenic Bloom variants is required for heterozygote testing in at-risk families. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_1200333	NANDO:1200333	BLM	http://identifiers.org/ncbigene/641	641	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1058	HGNC:1058	BLM RecQ like helicase	The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromosome 15q26. This Bloom-associated helicase unwinds a variety of DNA substrates including Holliday junction, and is involved in several pathways contributing to the maintenance of genome stability. Identification of pathogenic Bloom variants is required for heterozygote testing in at-risk families. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_2200707	NANDO:2200707	BLM	http://identifiers.org/ncbigene/641	641	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1058	HGNC:1058	BLM RecQ like helicase	The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromosome 15q26. This Bloom-associated helicase unwinds a variety of DNA substrates including Holliday junction, and is involved in several pathways contributing to the maintenance of genome stability. Identification of pathogenic Bloom variants is required for heterozygote testing in at-risk families. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	BLNK	http://identifiers.org/ncbigene/29760	29760	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14211	HGNC:14211	B cell linker	This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]
http://nanbyodata.jp/ontology/NANDO_1200637	NANDO:1200637	BLOC1S3	http://identifiers.org/ncbigene/388552	388552	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20914	HGNC:20914	biogenesis of lysosomal organelles complex 1 subunit 3	This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200638	NANDO:1200638	BLOC1S3	http://identifiers.org/ncbigene/388552	388552	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20914	HGNC:20914	biogenesis of lysosomal organelles complex 1 subunit 3	This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200986	NANDO:2200986	BLOC1S3	http://identifiers.org/ncbigene/388552	388552	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20914	HGNC:20914	biogenesis of lysosomal organelles complex 1 subunit 3	This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200637	NANDO:1200637	BLOC1S6	http://identifiers.org/ncbigene/26258	26258	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8549	HGNC:8549	biogenesis of lysosomal organelles complex 1 subunit 6	The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]
http://nanbyodata.jp/ontology/NANDO_1200638	NANDO:1200638	BLOC1S6	http://identifiers.org/ncbigene/26258	26258	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8549	HGNC:8549	biogenesis of lysosomal organelles complex 1 subunit 6	The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]
http://nanbyodata.jp/ontology/NANDO_2200986	NANDO:2200986	BLOC1S6	http://identifiers.org/ncbigene/26258	26258	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8549	HGNC:8549	biogenesis of lysosomal organelles complex 1 subunit 6	The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]
http://nanbyodata.jp/ontology/NANDO_1200873	NANDO:1200873	BMP1	http://identifiers.org/ncbigene/649	649	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1067	HGNC:1067	bone morphogenetic protein 1	This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq, Aug 2008]
http://nanbyodata.jp/ontology/NANDO_2201011	NANDO:2201011	BMP1	http://identifiers.org/ncbigene/649	649	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1067	HGNC:1067	bone morphogenetic protein 1	This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq, Aug 2008]
http://nanbyodata.jp/ontology/NANDO_2200916	NANDO:2200916	BMPR1A	http://identifiers.org/ncbigene/657	657	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1076	HGNC:1076	bone morphogenetic protein receptor type 1A	The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200425	NANDO:1200425	BMPR2	http://identifiers.org/ncbigene/659	659	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1078	HGNC:1078	bone morphogenetic protein receptor type 2	This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_2200298	NANDO:2200298	BMPR2	http://identifiers.org/ncbigene/659	659	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1078	HGNC:1078	bone morphogenetic protein receptor type 2	This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_1200462	NANDO:1200462	BRAF	http://identifiers.org/ncbigene/673	673	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1097	HGNC:1097	B-Raf proto-oncogene, serine/threonine kinase	This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200680	NANDO:1200680	BRAF	http://identifiers.org/ncbigene/673	673	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1097	HGNC:1097	B-Raf proto-oncogene, serine/threonine kinase	This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200031	NANDO:2200031	BRAF	http://identifiers.org/ncbigene/673	673	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1097	HGNC:1097	B-Raf proto-oncogene, serine/threonine kinase	This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200038	NANDO:2200038	BRAF	http://identifiers.org/ncbigene/673	673	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1097	HGNC:1097	B-Raf proto-oncogene, serine/threonine kinase	This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200077	NANDO:2200077	BRAF	http://identifiers.org/ncbigene/673	673	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1097	HGNC:1097	B-Raf proto-oncogene, serine/threonine kinase	This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200967	NANDO:2200967	BRAF	http://identifiers.org/ncbigene/673	673	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1097	HGNC:1097	B-Raf proto-oncogene, serine/threonine kinase	This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200891	NANDO:1200891	BRCA1	http://identifiers.org/ncbigene/672	672	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1100	HGNC:1100	BRCA1 DNA repair associated	This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_1200891	NANDO:1200891	BRCA2	http://identifiers.org/ncbigene/675	675	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1101	HGNC:1101	BRCA2 DNA repair associated	Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The largest exon in both genes is exon 11, which harbors the most important and frequent mutations in breast cancer patients. The BRCA2 gene was found on chromosome 13q12.3 in human. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_1200891	NANDO:1200891	BRIP1	http://identifiers.org/ncbigene/83990	83990	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20473	HGNC:20473	BRCA1 interacting helicase 1	The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200858	NANDO:1200858	BSCL2	http://identifiers.org/ncbigene/26580	26580	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15832	HGNC:15832	BSCL2 lipid droplet biogenesis associated, seipin	This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_1200859	NANDO:1200859	BSCL2	http://identifiers.org/ncbigene/26580	26580	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15832	HGNC:15832	BSCL2 lipid droplet biogenesis associated, seipin	This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2200404	NANDO:2200404	BSCL2	http://identifiers.org/ncbigene/26580	26580	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15832	HGNC:15832	BSCL2 lipid droplet biogenesis associated, seipin	This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2200465	NANDO:2200465	BSCL2	http://identifiers.org/ncbigene/26580	26580	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15832	HGNC:15832	BSCL2 lipid droplet biogenesis associated, seipin	This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2201442	NANDO:2201442	BSCL2	http://identifiers.org/ncbigene/26580	26580	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15832	HGNC:15832	BSCL2 lipid droplet biogenesis associated, seipin	This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2201444	NANDO:2201444	BSCL2	http://identifiers.org/ncbigene/26580	26580	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15832	HGNC:15832	BSCL2 lipid droplet biogenesis associated, seipin	This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2200146	NANDO:2200146	BSND	http://identifiers.org/ncbigene/7809	7809	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16512	HGNC:16512	barttin CLCNK type accessory subunit beta	This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200820	NANDO:1200820	BTD	http://identifiers.org/ncbigene/686	686	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1122	HGNC:1122	biotinidase	The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]
http://nanbyodata.jp/ontology/NANDO_1200822	NANDO:1200822	BTD	http://identifiers.org/ncbigene/686	686	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1122	HGNC:1122	biotinidase	The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]
http://nanbyodata.jp/ontology/NANDO_2200500	NANDO:2200500	BTD	http://identifiers.org/ncbigene/686	686	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1122	HGNC:1122	biotinidase	The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	BTK	http://identifiers.org/ncbigene/695	695	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1133	HGNC:1133	Bruton tyrosine kinase	The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
http://nanbyodata.jp/ontology/NANDO_1200343	NANDO:1200343	BTK	http://identifiers.org/ncbigene/695	695	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1133	HGNC:1133	Bruton tyrosine kinase	The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
http://nanbyodata.jp/ontology/NANDO_2200716	NANDO:2200716	BTK	http://identifiers.org/ncbigene/695	695	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1133	HGNC:1133	Bruton tyrosine kinase	The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
http://nanbyodata.jp/ontology/NANDO_1200540	NANDO:1200540	C19orf12	http://identifiers.org/ncbigene/83636	83636	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25443	HGNC:25443	chromosome 19 open reading frame 12	This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_1200542	NANDO:1200542	C19orf12	http://identifiers.org/ncbigene/83636	83636	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25443	HGNC:25443	chromosome 19 open reading frame 12	This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_2200582	NANDO:2200582	C19orf12	http://identifiers.org/ncbigene/83636	83636	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25443	HGNC:25443	chromosome 19 open reading frame 12	This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	C1QA	http://identifiers.org/ncbigene/712	712	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1241	HGNC:1241	complement C1q A chain	This gene encodes the A-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
http://nanbyodata.jp/ontology/NANDO_1200364	NANDO:1200364	C1QA	http://identifiers.org/ncbigene/712	712	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1241	HGNC:1241	complement C1q A chain	This gene encodes the A-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
http://nanbyodata.jp/ontology/NANDO_2200776	NANDO:2200776	C1QA	http://identifiers.org/ncbigene/712	712	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1241	HGNC:1241	complement C1q A chain	This gene encodes the A-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
http://nanbyodata.jp/ontology/NANDO_2200777	NANDO:2200777	C1QA	http://identifiers.org/ncbigene/712	712	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1241	HGNC:1241	complement C1q A chain	This gene encodes the A-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	C1QB	http://identifiers.org/ncbigene/713	713	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1242	HGNC:1242	complement C1q B chain	This gene encodes the B-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_1200364	NANDO:1200364	C1QB	http://identifiers.org/ncbigene/713	713	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1242	HGNC:1242	complement C1q B chain	This gene encodes the B-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_2200776	NANDO:2200776	C1QB	http://identifiers.org/ncbigene/713	713	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1242	HGNC:1242	complement C1q B chain	This gene encodes the B-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_2200777	NANDO:2200777	C1QB	http://identifiers.org/ncbigene/713	713	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1242	HGNC:1242	complement C1q B chain	This gene encodes the B-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	C1QC	http://identifiers.org/ncbigene/714	714	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1245	HGNC:1245	complement C1q C chain	This gene encodes the C-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_1200364	NANDO:1200364	C1QC	http://identifiers.org/ncbigene/714	714	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1245	HGNC:1245	complement C1q C chain	This gene encodes the C-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_2200776	NANDO:2200776	C1QC	http://identifiers.org/ncbigene/714	714	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1245	HGNC:1245	complement C1q C chain	This gene encodes the C-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_2200777	NANDO:2200777	C1QC	http://identifiers.org/ncbigene/714	714	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1245	HGNC:1245	complement C1q C chain	This gene encodes the C-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	C1R	http://identifiers.org/ncbigene/715	715	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1246	HGNC:1246	complement C1r	This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018]
http://nanbyodata.jp/ontology/NANDO_1200364	NANDO:1200364	C1R	http://identifiers.org/ncbigene/715	715	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1246	HGNC:1246	complement C1r	This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018]
http://nanbyodata.jp/ontology/NANDO_1200645	NANDO:1200645	C1R	http://identifiers.org/ncbigene/715	715	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1246	HGNC:1246	complement C1r	This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018]
http://nanbyodata.jp/ontology/NANDO_1201091	NANDO:1201091	C1R	http://identifiers.org/ncbigene/715	715	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1246	HGNC:1246	complement C1r	This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018]
http://nanbyodata.jp/ontology/NANDO_2200776	NANDO:2200776	C1R	http://identifiers.org/ncbigene/715	715	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1246	HGNC:1246	complement C1r	This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018]
http://nanbyodata.jp/ontology/NANDO_2200778	NANDO:2200778	C1R	http://identifiers.org/ncbigene/715	715	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1246	HGNC:1246	complement C1r	This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	C1S	http://identifiers.org/ncbigene/716	716	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1247	HGNC:1247	complement C1s	This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_1200364	NANDO:1200364	C1S	http://identifiers.org/ncbigene/716	716	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1247	HGNC:1247	complement C1s	This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_1200645	NANDO:1200645	C1S	http://identifiers.org/ncbigene/716	716	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1247	HGNC:1247	complement C1s	This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_1201091	NANDO:1201091	C1S	http://identifiers.org/ncbigene/716	716	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1247	HGNC:1247	complement C1s	This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2200776	NANDO:2200776	C1S	http://identifiers.org/ncbigene/716	716	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1247	HGNC:1247	complement C1s	This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2200779	NANDO:2200779	C1S	http://identifiers.org/ncbigene/716	716	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1247	HGNC:1247	complement C1s	This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	C2	http://identifiers.org/ncbigene/717	717	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1248	HGNC:1248	complement C2	Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_1200364	NANDO:1200364	C2	http://identifiers.org/ncbigene/717	717	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1248	HGNC:1248	complement C2	Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2200776	NANDO:2200776	C2	http://identifiers.org/ncbigene/717	717	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1248	HGNC:1248	complement C2	Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2200781	NANDO:2200781	C2	http://identifiers.org/ncbigene/717	717	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1248	HGNC:1248	complement C2	Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	C2CD3	http://identifiers.org/ncbigene/26005	26005	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24564	HGNC:24564	C2 domain containing 3 centriole elongation regulator	This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	C3	http://identifiers.org/ncbigene/718	718	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1318	HGNC:1318	complement C3	Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_1200364	NANDO:1200364	C3	http://identifiers.org/ncbigene/718	718	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1318	HGNC:1318	complement C3	Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_1200473	NANDO:1200473	C3	http://identifiers.org/ncbigene/718	718	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1318	HGNC:1318	complement C3	Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_2200426	NANDO:2200426	C3	http://identifiers.org/ncbigene/718	718	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1318	HGNC:1318	complement C3	Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_2200776	NANDO:2200776	C3	http://identifiers.org/ncbigene/718	718	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1318	HGNC:1318	complement C3	Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_2200782	NANDO:2200782	C3	http://identifiers.org/ncbigene/718	718	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1318	HGNC:1318	complement C3	Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	C4A	http://identifiers.org/ncbigene/720	720	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1323	HGNC:1323	complement C4A (Rodgers blood group)	This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain is cleaved to release C4 anaphylatoxin, an antimicrobial peptide and a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
http://nanbyodata.jp/ontology/NANDO_1200364	NANDO:1200364	C4A	http://identifiers.org/ncbigene/720	720	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1323	HGNC:1323	complement C4A (Rodgers blood group)	This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain is cleaved to release C4 anaphylatoxin, an antimicrobial peptide and a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
http://nanbyodata.jp/ontology/NANDO_2200426	NANDO:2200426	C4A	http://identifiers.org/ncbigene/720	720	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1323	HGNC:1323	complement C4A (Rodgers blood group)	This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain is cleaved to release C4 anaphylatoxin, an antimicrobial peptide and a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
http://nanbyodata.jp/ontology/NANDO_2200776	NANDO:2200776	C4A	http://identifiers.org/ncbigene/720	720	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1323	HGNC:1323	complement C4A (Rodgers blood group)	This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain is cleaved to release C4 anaphylatoxin, an antimicrobial peptide and a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
http://nanbyodata.jp/ontology/NANDO_2200780	NANDO:2200780	C4A	http://identifiers.org/ncbigene/720	720	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1323	HGNC:1323	complement C4A (Rodgers blood group)	This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain is cleaved to release C4 anaphylatoxin, an antimicrobial peptide and a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	C4B	http://identifiers.org/ncbigene/721	721	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1324	HGNC:1324	complement C4B (Chido blood group)	This gene encodes the basic form of complement factor 4, and together with the C4A gene, is part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_1200364	NANDO:1200364	C4B	http://identifiers.org/ncbigene/721	721	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1324	HGNC:1324	complement C4B (Chido blood group)	This gene encodes the basic form of complement factor 4, and together with the C4A gene, is part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_2200776	NANDO:2200776	C4B	http://identifiers.org/ncbigene/721	721	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1324	HGNC:1324	complement C4B (Chido blood group)	This gene encodes the basic form of complement factor 4, and together with the C4A gene, is part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_2200780	NANDO:2200780	C4B	http://identifiers.org/ncbigene/721	721	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1324	HGNC:1324	complement C4B (Chido blood group)	This gene encodes the basic form of complement factor 4, and together with the C4A gene, is part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	C5	http://identifiers.org/ncbigene/727	727	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1331	HGNC:1331	complement C5	This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_1200364	NANDO:1200364	C5	http://identifiers.org/ncbigene/727	727	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1331	HGNC:1331	complement C5	This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_2200776	NANDO:2200776	C5	http://identifiers.org/ncbigene/727	727	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1331	HGNC:1331	complement C5	This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_2200783	NANDO:2200783	C5	http://identifiers.org/ncbigene/727	727	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1331	HGNC:1331	complement C5	This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	C6	http://identifiers.org/ncbigene/729	729	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1339	HGNC:1339	complement C6	This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]
http://nanbyodata.jp/ontology/NANDO_1200364	NANDO:1200364	C6	http://identifiers.org/ncbigene/729	729	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1339	HGNC:1339	complement C6	This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]
http://nanbyodata.jp/ontology/NANDO_2200776	NANDO:2200776	C6	http://identifiers.org/ncbigene/729	729	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1339	HGNC:1339	complement C6	This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]
http://nanbyodata.jp/ontology/NANDO_2200784	NANDO:2200784	C6	http://identifiers.org/ncbigene/729	729	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1339	HGNC:1339	complement C6	This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	C7	http://identifiers.org/ncbigene/730	730	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1346	HGNC:1346	complement C7	This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency. [provided by RefSeq, Nov 2016]
http://nanbyodata.jp/ontology/NANDO_1200364	NANDO:1200364	C7	http://identifiers.org/ncbigene/730	730	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1346	HGNC:1346	complement C7	This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency. [provided by RefSeq, Nov 2016]
http://nanbyodata.jp/ontology/NANDO_2200776	NANDO:2200776	C7	http://identifiers.org/ncbigene/730	730	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1346	HGNC:1346	complement C7	This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency. [provided by RefSeq, Nov 2016]
http://nanbyodata.jp/ontology/NANDO_2200785	NANDO:2200785	C7	http://identifiers.org/ncbigene/730	730	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1346	HGNC:1346	complement C7	This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency. [provided by RefSeq, Nov 2016]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	C8A	http://identifiers.org/ncbigene/731	731	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1352	HGNC:1352	complement C8 alpha chain	C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_1200364	NANDO:1200364	C8A	http://identifiers.org/ncbigene/731	731	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1352	HGNC:1352	complement C8 alpha chain	C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_2200776	NANDO:2200776	C8A	http://identifiers.org/ncbigene/731	731	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1352	HGNC:1352	complement C8 alpha chain	C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_2200786	NANDO:2200786	C8A	http://identifiers.org/ncbigene/731	731	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1352	HGNC:1352	complement C8 alpha chain	C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	C8B	http://identifiers.org/ncbigene/732	732	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1353	HGNC:1353	complement C8 beta chain	This gene encodes one of the three subunits of the complement component 8 (C8) protein. C8 is composed of equimolar amounts of alpha, beta and gamma subunits, which are encoded by three separate genes. C8 is one component of the membrane attack complex, which mediates cell lysis, and it initiates membrane penetration of the complex. This protein mediates the interaction of C8 with the C5b-7 membrane attack complex precursor. In humans deficiency of this protein is associated with increased risk of meningococcal infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
http://nanbyodata.jp/ontology/NANDO_1200364	NANDO:1200364	C8B	http://identifiers.org/ncbigene/732	732	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1353	HGNC:1353	complement C8 beta chain	This gene encodes one of the three subunits of the complement component 8 (C8) protein. C8 is composed of equimolar amounts of alpha, beta and gamma subunits, which are encoded by three separate genes. C8 is one component of the membrane attack complex, which mediates cell lysis, and it initiates membrane penetration of the complex. This protein mediates the interaction of C8 with the C5b-7 membrane attack complex precursor. In humans deficiency of this protein is associated with increased risk of meningococcal infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
http://nanbyodata.jp/ontology/NANDO_2200776	NANDO:2200776	C8B	http://identifiers.org/ncbigene/732	732	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1353	HGNC:1353	complement C8 beta chain	This gene encodes one of the three subunits of the complement component 8 (C8) protein. C8 is composed of equimolar amounts of alpha, beta and gamma subunits, which are encoded by three separate genes. C8 is one component of the membrane attack complex, which mediates cell lysis, and it initiates membrane penetration of the complex. This protein mediates the interaction of C8 with the C5b-7 membrane attack complex precursor. In humans deficiency of this protein is associated with increased risk of meningococcal infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
http://nanbyodata.jp/ontology/NANDO_2200786	NANDO:2200786	C8B	http://identifiers.org/ncbigene/732	732	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1353	HGNC:1353	complement C8 beta chain	This gene encodes one of the three subunits of the complement component 8 (C8) protein. C8 is composed of equimolar amounts of alpha, beta and gamma subunits, which are encoded by three separate genes. C8 is one component of the membrane attack complex, which mediates cell lysis, and it initiates membrane penetration of the complex. This protein mediates the interaction of C8 with the C5b-7 membrane attack complex precursor. In humans deficiency of this protein is associated with increased risk of meningococcal infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	C9	http://identifiers.org/ncbigene/735	735	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1358	HGNC:1358	complement C9	This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_1200364	NANDO:1200364	C9	http://identifiers.org/ncbigene/735	735	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1358	HGNC:1358	complement C9	This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_2200776	NANDO:2200776	C9	http://identifiers.org/ncbigene/735	735	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1358	HGNC:1358	complement C9	This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_2200787	NANDO:2200787	C9	http://identifiers.org/ncbigene/735	735	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1358	HGNC:1358	complement C9	This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_1200998	NANDO:1200998	CA2	http://identifiers.org/ncbigene/760	760	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1373	HGNC:1373	carbonic anhydrase 2	The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
http://nanbyodata.jp/ontology/NANDO_2201013	NANDO:2201013	CA2	http://identifiers.org/ncbigene/760	760	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1373	HGNC:1373	carbonic anhydrase 2	The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
http://nanbyodata.jp/ontology/NANDO_1200037	NANDO:1200037	CACNA1A	http://identifiers.org/ncbigene/773	773	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1388	HGNC:1388	calcium voltage-gated channel subunit alpha1 A	Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_1200596	NANDO:1200596	CACNA1A	http://identifiers.org/ncbigene/773	773	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1388	HGNC:1388	calcium voltage-gated channel subunit alpha1 A	Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2200882	NANDO:2200882	CACNA1A	http://identifiers.org/ncbigene/773	773	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1388	HGNC:1388	calcium voltage-gated channel subunit alpha1 A	Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2200228	NANDO:2200228	CACNA1C	http://identifiers.org/ncbigene/775	775	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1390	HGNC:1390	calcium voltage-gated channel subunit alpha1 C	This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]
http://nanbyodata.jp/ontology/NANDO_1200502	NANDO:1200502	CACNA1S	http://identifiers.org/ncbigene/779	779	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1397	HGNC:1397	calcium voltage-gated channel subunit alpha1 S	This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200503	NANDO:1200503	CACNA1S	http://identifiers.org/ncbigene/779	779	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1397	HGNC:1397	calcium voltage-gated channel subunit alpha1 S	This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201515	NANDO:2201515	CACNA1S	http://identifiers.org/ncbigene/779	779	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1397	HGNC:1397	calcium voltage-gated channel subunit alpha1 S	This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	CAPN3	http://identifiers.org/ncbigene/825	825	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1480	HGNC:1480	calpain 3	Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	CARD11	http://identifiers.org/ncbigene/84433	84433	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16393	HGNC:16393	caspase recruitment domain family member 11	The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein has a domain structure similar to that of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200742	NANDO:2200742	CARD11	http://identifiers.org/ncbigene/84433	84433	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16393	HGNC:16393	caspase recruitment domain family member 11	The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein has a domain structure similar to that of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200440	NANDO:2200440	CARD14	http://identifiers.org/ncbigene/79092	79092	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16446	HGNC:16446	caspase recruitment domain family member 14	This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_2200443	NANDO:2200443	CARD14	http://identifiers.org/ncbigene/79092	79092	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16446	HGNC:16446	caspase recruitment domain family member 14	This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	CARD9	http://identifiers.org/ncbigene/64170	64170	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16391	HGNC:16391	caspase recruitment domain family member 9	The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200765	NANDO:2200765	CARD9	http://identifiers.org/ncbigene/64170	64170	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16391	HGNC:16391	caspase recruitment domain family member 9	The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200773	NANDO:2200773	CARD9	http://identifiers.org/ncbigene/64170	64170	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16391	HGNC:16391	caspase recruitment domain family member 9	The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200593	NANDO:1200593	CASK	http://identifiers.org/ncbigene/8573	8573	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1497	HGNC:1497	calcium/calmodulin dependent serine protein kinase	This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
http://nanbyodata.jp/ontology/NANDO_2201393	NANDO:2201393	CASK	http://identifiers.org/ncbigene/8573	8573	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1497	HGNC:1497	calcium/calmodulin dependent serine protein kinase	This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	CASP10	http://identifiers.org/ncbigene/843	843	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1500	HGNC:1500	caspase 10	This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. Mutations in this gene are associated with type IIA autoimmune lymphoproliferative syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]
http://nanbyodata.jp/ontology/NANDO_1200352	NANDO:1200352	CASP10	http://identifiers.org/ncbigene/843	843	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1500	HGNC:1500	caspase 10	This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. Mutations in this gene are associated with type IIA autoimmune lymphoproliferative syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]
http://nanbyodata.jp/ontology/NANDO_2200726	NANDO:2200726	CASP10	http://identifiers.org/ncbigene/843	843	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1500	HGNC:1500	caspase 10	This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. Mutations in this gene are associated with type IIA autoimmune lymphoproliferative syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	CASP8	http://identifiers.org/ncbigene/841	841	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1509	HGNC:1509	caspase 8	This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200740	NANDO:2200740	CASP8	http://identifiers.org/ncbigene/841	841	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1509	HGNC:1509	caspase 8	This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200221	NANDO:2200221	CASQ2	http://identifiers.org/ncbigene/845	845	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1513	HGNC:1513	calsequestrin 2	The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200758	NANDO:1200758	CAT	http://identifiers.org/ncbigene/847	847	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1516	HGNC:1516	catalase	This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200774	NANDO:1200774	CAT	http://identifiers.org/ncbigene/847	847	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1516	HGNC:1516	catalase	This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200858	NANDO:1200858	CAV1	http://identifiers.org/ncbigene/857	857	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1527	HGNC:1527	caveolin 1	The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200859	NANDO:1200859	CAV1	http://identifiers.org/ncbigene/857	857	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1527	HGNC:1527	caveolin 1	The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200404	NANDO:2200404	CAV1	http://identifiers.org/ncbigene/857	857	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1527	HGNC:1527	caveolin 1	The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200465	NANDO:2200465	CAV1	http://identifiers.org/ncbigene/857	857	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1527	HGNC:1527	caveolin 1	The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2201442	NANDO:2201442	CAV1	http://identifiers.org/ncbigene/857	857	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1527	HGNC:1527	caveolin 1	The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2201443	NANDO:2201443	CAV1	http://identifiers.org/ncbigene/857	857	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1527	HGNC:1527	caveolin 1	The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2201444	NANDO:2201444	CAV1	http://identifiers.org/ncbigene/857	857	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1527	HGNC:1527	caveolin 1	The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2201446	NANDO:2201446	CAV1	http://identifiers.org/ncbigene/857	857	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1527	HGNC:1527	caveolin 1	The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200216	NANDO:1200216	CAV3	http://identifiers.org/ncbigene/859	859	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1529	HGNC:1529	caveolin 3	This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	CAV3	http://identifiers.org/ncbigene/859	859	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1529	HGNC:1529	caveolin 3	This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200228	NANDO:2200228	CAV3	http://identifiers.org/ncbigene/859	859	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1529	HGNC:1529	caveolin 3	This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200858	NANDO:1200858	CAVIN1	http://identifiers.org/ncbigene/284119	284119	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9688	HGNC:9688	caveolae associated protein 1	This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_1200859	NANDO:1200859	CAVIN1	http://identifiers.org/ncbigene/284119	284119	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9688	HGNC:9688	caveolae associated protein 1	This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_2200404	NANDO:2200404	CAVIN1	http://identifiers.org/ncbigene/284119	284119	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9688	HGNC:9688	caveolae associated protein 1	This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_2200465	NANDO:2200465	CAVIN1	http://identifiers.org/ncbigene/284119	284119	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9688	HGNC:9688	caveolae associated protein 1	This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_2201442	NANDO:2201442	CAVIN1	http://identifiers.org/ncbigene/284119	284119	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9688	HGNC:9688	caveolae associated protein 1	This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_2201444	NANDO:2201444	CAVIN1	http://identifiers.org/ncbigene/284119	284119	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9688	HGNC:9688	caveolae associated protein 1	This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_2200004	NANDO:2200004	CBFB	http://identifiers.org/ncbigene/865	865	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1539	HGNC:1539	core-binding factor subunit beta	The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200005	NANDO:2200005	CBFB	http://identifiers.org/ncbigene/865	865	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1539	HGNC:1539	core-binding factor subunit beta	The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200006	NANDO:2200006	CBFB	http://identifiers.org/ncbigene/865	865	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1539	HGNC:1539	core-binding factor subunit beta	The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200007	NANDO:2200007	CBFB	http://identifiers.org/ncbigene/865	865	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1539	HGNC:1539	core-binding factor subunit beta	The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200008	NANDO:2200008	CBFB	http://identifiers.org/ncbigene/865	865	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1539	HGNC:1539	core-binding factor subunit beta	The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200009	NANDO:2200009	CBFB	http://identifiers.org/ncbigene/865	865	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1539	HGNC:1539	core-binding factor subunit beta	The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200010	NANDO:2200010	CBFB	http://identifiers.org/ncbigene/865	865	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1539	HGNC:1539	core-binding factor subunit beta	The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200011	NANDO:2200011	CBFB	http://identifiers.org/ncbigene/865	865	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1539	HGNC:1539	core-binding factor subunit beta	The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200019	NANDO:2200019	CBFB	http://identifiers.org/ncbigene/865	865	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1539	HGNC:1539	core-binding factor subunit beta	The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200680	NANDO:1200680	CBL	http://identifiers.org/ncbigene/867	867	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1541	HGNC:1541	Cbl proto-oncogene	This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2200014	NANDO:2200014	CBL	http://identifiers.org/ncbigene/867	867	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1541	HGNC:1541	Cbl proto-oncogene	This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2200015	NANDO:2200015	CBL	http://identifiers.org/ncbigene/867	867	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1541	HGNC:1541	Cbl proto-oncogene	This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_1201038	NANDO:1201038	CBS	http://identifiers.org/ncbigene/875	875	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1550	HGNC:1550	cystathionine beta-synthase	The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_1201039	NANDO:1201039	CBS	http://identifiers.org/ncbigene/875	875	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1550	HGNC:1550	cystathionine beta-synthase	The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_2200474	NANDO:2200474	CBS	http://identifiers.org/ncbigene/875	875	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1550	HGNC:1550	cystathionine beta-synthase	The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_2200383	NANDO:2200383	CBX2	http://identifiers.org/ncbigene/84733	84733	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1552	HGNC:1552	chromobox 2	This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the transcriptionally repressive state of many genes throughout development via chromatin remodeling and modification of histones. Disruption of this gene in mice results in male-to-female gonadal sex reversal. Mutations in this gene are also associated with gonadal dysgenesis in humans. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	CC2D2A	http://identifiers.org/ncbigene/57545	57545	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29253	HGNC:29253	coiled-coil and C2 domain containing 2A	This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	CC2D2A	http://identifiers.org/ncbigene/57545	57545	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29253	HGNC:29253	coiled-coil and C2 domain containing 2A	This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	CCDC39	http://identifiers.org/ncbigene/339829	339829	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25244	HGNC:25244	coiled-coil domain containing 39	The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14). [provided by RefSeq, Jul 2011]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	CCDC40	http://identifiers.org/ncbigene/55036	55036	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26090	HGNC:26090	coiled-coil domain containing 40	This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_1200477	NANDO:1200477	CCDC78	http://identifiers.org/ncbigene/124093	124093	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14153	HGNC:14153	coiled-coil domain containing 78	The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012]
http://nanbyodata.jp/ontology/NANDO_1200481	NANDO:1200481	CCDC78	http://identifiers.org/ncbigene/124093	124093	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14153	HGNC:14153	coiled-coil domain containing 78	The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012]
http://nanbyodata.jp/ontology/NANDO_1200482	NANDO:1200482	CCDC78	http://identifiers.org/ncbigene/124093	124093	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14153	HGNC:14153	coiled-coil domain containing 78	The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012]
http://nanbyodata.jp/ontology/NANDO_2200519	NANDO:2200519	CCND1	http://identifiers.org/ncbigene/595	595	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1582	HGNC:1582	cyclin D1	The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of human cancers. [provided by RefSeq, Dec 2019]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	CCNO	http://identifiers.org/ncbigene/10309	10309	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18576	HGNC:18576	cyclin O	This gene encodes a member of the cyclin protein family, and the encoded protein is involved in regulation of the cell cycle. Disruption of this gene is associated with primary ciliary dyskinesia-19. Alternative splicing results in multiple transcript variants. This gene, which has a previous symbol of UNG2, was erroneously identified as a uracil DNA glycosylase in PubMed ID: 2001396. A later publication, PubMed ID: 8419333, identified this gene's product as a cyclin protein family member. The UNG2 symbol is also used as a specific protein isoform name for the UNG gene (GeneID 7374), so confusion exists in the scientific literature and in some databases for these two genes. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	CD19	http://identifiers.org/ncbigene/930	930	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1633	HGNC:1633	CD19 molecule	This gene encodes a member of the immunoglobulin gene superfamily. Expression of this cell surface protein is restricted to B cell lymphocytes. This protein is a reliable marker for pre-B cells but its expression diminishes during terminal B cell differentiation in antibody secreting plasma cells. The protein has two N-terminal extracellular Ig-like domains separated by a non-Ig-like domain, a hydrophobic transmembrane domain, and a large C-terminal cytoplasmic domain. This protein forms a complex with several membrane proteins including complement receptor type 2 (CD21) and tetraspanin (CD81) and this complex reduces the threshold for antigen-initiated B cell activation. Activation of this B-cell antigen receptor complex activates the phosphatidylinositol 3-kinase signalling pathway and the subsequent release of intracellular stores of calcium ions. This protein is a target of chimeric antigen receptor (CAR) T-cells used in the treatment of lymphoblastic leukemia. Mutations in this gene are associated with the disease common variable immunodeficiency 3 (CVID3) which results in a failure of B-cell differentiation and impaired secretion of immunoglobulins. CVID3 is characterized by hypogammaglobulinemia, an inability to mount an antibody response to antigen, and recurrent bacterial infections. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_1200344	NANDO:1200344	CD19	http://identifiers.org/ncbigene/930	930	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1633	HGNC:1633	CD19 molecule	This gene encodes a member of the immunoglobulin gene superfamily. Expression of this cell surface protein is restricted to B cell lymphocytes. This protein is a reliable marker for pre-B cells but its expression diminishes during terminal B cell differentiation in antibody secreting plasma cells. The protein has two N-terminal extracellular Ig-like domains separated by a non-Ig-like domain, a hydrophobic transmembrane domain, and a large C-terminal cytoplasmic domain. This protein forms a complex with several membrane proteins including complement receptor type 2 (CD21) and tetraspanin (CD81) and this complex reduces the threshold for antigen-initiated B cell activation. Activation of this B-cell antigen receptor complex activates the phosphatidylinositol 3-kinase signalling pathway and the subsequent release of intracellular stores of calcium ions. This protein is a target of chimeric antigen receptor (CAR) T-cells used in the treatment of lymphoblastic leukemia. Mutations in this gene are associated with the disease common variable immunodeficiency 3 (CVID3) which results in a failure of B-cell differentiation and impaired secretion of immunoglobulins. CVID3 is characterized by hypogammaglobulinemia, an inability to mount an antibody response to antigen, and recurrent bacterial infections. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_2200717	NANDO:2200717	CD19	http://identifiers.org/ncbigene/930	930	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1633	HGNC:1633	CD19 molecule	This gene encodes a member of the immunoglobulin gene superfamily. Expression of this cell surface protein is restricted to B cell lymphocytes. This protein is a reliable marker for pre-B cells but its expression diminishes during terminal B cell differentiation in antibody secreting plasma cells. The protein has two N-terminal extracellular Ig-like domains separated by a non-Ig-like domain, a hydrophobic transmembrane domain, and a large C-terminal cytoplasmic domain. This protein forms a complex with several membrane proteins including complement receptor type 2 (CD21) and tetraspanin (CD81) and this complex reduces the threshold for antigen-initiated B cell activation. Activation of this B-cell antigen receptor complex activates the phosphatidylinositol 3-kinase signalling pathway and the subsequent release of intracellular stores of calcium ions. This protein is a target of chimeric antigen receptor (CAR) T-cells used in the treatment of lymphoblastic leukemia. Mutations in this gene are associated with the disease common variable immunodeficiency 3 (CVID3) which results in a failure of B-cell differentiation and impaired secretion of immunoglobulins. CVID3 is characterized by hypogammaglobulinemia, an inability to mount an antibody response to antigen, and recurrent bacterial infections. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	CD27	http://identifiers.org/ncbigene/939	939	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11922	HGNC:11922	CD27 molecule	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200735	NANDO:2200735	CD27	http://identifiers.org/ncbigene/939	939	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11922	HGNC:11922	CD27 molecule	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200345	NANDO:1200345	CD40	http://identifiers.org/ncbigene/958	958	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11919	HGNC:11919	CD40 molecule	This gene is a member of the TNF-receptor superfamily. The encoded protein is a receptor on antigen-presenting cells of the immune system and is essential for mediating a broad variety of immune and inflammatory responses including T cell-dependent immunoglobulin class switching, memory B cell development, and germinal center formation. AT-hook transcription factor AKNA is reported to coordinately regulate the expression of this receptor and its ligand, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this receptor and serves as a mediator of the signal transduction. The interaction of this receptor and its ligand is found to be necessary for amyloid-beta-induced microglial activation, and thus is thought to be an early event in Alzheimer disease pathogenesis. Mutations affecting this gene are the cause of autosomal recessive hyper-IgM immunodeficiency type 3 (HIGM3). Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2014]
http://nanbyodata.jp/ontology/NANDO_2200718	NANDO:2200718	CD40	http://identifiers.org/ncbigene/958	958	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11919	HGNC:11919	CD40 molecule	This gene is a member of the TNF-receptor superfamily. The encoded protein is a receptor on antigen-presenting cells of the immune system and is essential for mediating a broad variety of immune and inflammatory responses including T cell-dependent immunoglobulin class switching, memory B cell development, and germinal center formation. AT-hook transcription factor AKNA is reported to coordinately regulate the expression of this receptor and its ligand, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this receptor and serves as a mediator of the signal transduction. The interaction of this receptor and its ligand is found to be necessary for amyloid-beta-induced microglial activation, and thus is thought to be an early event in Alzheimer disease pathogenesis. Mutations affecting this gene are the cause of autosomal recessive hyper-IgM immunodeficiency type 3 (HIGM3). Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2014]
http://nanbyodata.jp/ontology/NANDO_1200473	NANDO:1200473	CD46	http://identifiers.org/ncbigene/4179	4179	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6953	HGNC:6953	CD46 molecule	The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_2200131	NANDO:2200131	CD46	http://identifiers.org/ncbigene/4179	4179	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6953	HGNC:6953	CD46 molecule	The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_2200803	NANDO:2200803	CD46	http://identifiers.org/ncbigene/4179	4179	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6953	HGNC:6953	CD46 molecule	The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_2200804	NANDO:2200804	CD59	http://identifiers.org/ncbigene/966	966	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1689	HGNC:1689	CD59 molecule (CD59 blood group)	This gene encodes a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8 and/or C9 during the assembly of this complex, thereby inhibiting the incorporation of multiple copies of C9 into the complex, which is necessary for osmolytic pore formation. This protein also plays a role in signal transduction pathways in the activation of T cells. Mutations in this gene cause CD59 deficiency, a disease resulting in hemolytic anemia and thrombosis, and which causes cerebral infarction. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	CD79A	http://identifiers.org/ncbigene/973	973	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1698	HGNC:1698	CD79a molecule	The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-alpha protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	CD79B	http://identifiers.org/ncbigene/974	974	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1699	HGNC:1699	CD79b molecule	The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-beta protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	CD81	http://identifiers.org/ncbigene/975	975	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1701	HGNC:1701	CD81 molecule	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This protein appears to promote muscle cell fusion and support myotube maintenance. Also it may be involved in signal transduction. This gene is localized in the tumor-suppressor gene region and thus it is a candidate gene for malignancies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_1200344	NANDO:1200344	CD81	http://identifiers.org/ncbigene/975	975	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1701	HGNC:1701	CD81 molecule	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This protein appears to promote muscle cell fusion and support myotube maintenance. Also it may be involved in signal transduction. This gene is localized in the tumor-suppressor gene region and thus it is a candidate gene for malignancies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_2200717	NANDO:2200717	CD81	http://identifiers.org/ncbigene/975	975	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1701	HGNC:1701	CD81 molecule	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This protein appears to promote muscle cell fusion and support myotube maintenance. Also it may be involved in signal transduction. This gene is localized in the tumor-suppressor gene region and thus it is a candidate gene for malignancies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	CD8A	http://identifiers.org/ncbigene/925	925	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1706	HGNC:1706	CD8a molecule	The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class I MHC molecules. The coreceptor functions as either a homodimer composed of two alpha chains or as a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 alpha chain. Multiple transcript variants encoding different isoforms have been found for this gene. The major protein isoforms of this gene differ by the presence or absence of a transmembrane domain and thus differ in being a membrane-anchored or secreted protein. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_1200326	NANDO:1200326	CD8A	http://identifiers.org/ncbigene/925	925	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1706	HGNC:1706	CD8a molecule	The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class I MHC molecules. The coreceptor functions as either a homodimer composed of two alpha chains or as a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 alpha chain. Multiple transcript variants encoding different isoforms have been found for this gene. The major protein isoforms of this gene differ by the presence or absence of a transmembrane domain and thus differ in being a membrane-anchored or secreted protein. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_2200699	NANDO:2200699	CD8A	http://identifiers.org/ncbigene/925	925	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1706	HGNC:1706	CD8a molecule	The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class I MHC molecules. The coreceptor functions as either a homodimer composed of two alpha chains or as a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 alpha chain. Multiple transcript variants encoding different isoforms have been found for this gene. The major protein isoforms of this gene differ by the presence or absence of a transmembrane domain and thus differ in being a membrane-anchored or secreted protein. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_2200846	NANDO:2200846	CD96	http://identifiers.org/ncbigene/10225	10225	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16892	HGNC:16892	CD96 molecule	The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein. The protein may play a role in the adhesive interactions of activated T and NK cells during the late phase of the immune response. It may also function in antigen presentation. Alternative splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1200885	NANDO:1200885	CDAN1	http://identifiers.org/ncbigene/146059	146059	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1713	HGNC:1713	codanin 1	This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009]
http://nanbyodata.jp/ontology/NANDO_1200886	NANDO:1200886	CDAN1	http://identifiers.org/ncbigene/146059	146059	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1713	HGNC:1713	codanin 1	This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009]
http://nanbyodata.jp/ontology/NANDO_2200985	NANDO:2200985	CDC42	http://identifiers.org/ncbigene/998	998	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1736	HGNC:1736	cell division cycle 42	The protein encoded by this gene is a small GTPase of the Rho-subfamily, which regulates signaling pathways that control diverse cellular functions including cell morphology, migration, endocytosis and cell cycle progression. This protein is highly similar to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 mutant. The product of oncogene Dbl was reported to specifically catalyze the dissociation of GDP from this protein. This protein could regulate actin polymerization through its direct binding to Neural Wiskott-Aldrich syndrome protein (N-WASP), which subsequently activates Arp2/3 complex. Alternative splicing of this gene results in multiple transcript variants. Pseudogenes of this gene have been identified on chromosomes 3, 4, 5, 7, 8 and 20. [provided by RefSeq, Apr 2013]
http://nanbyodata.jp/ontology/NANDO_1200941	NANDO:1200941	CDH23	http://identifiers.org/ncbigene/64072	64072	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13733	HGNC:13733	cadherin related 23	This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]
http://nanbyodata.jp/ontology/NANDO_1200942	NANDO:1200942	CDH23	http://identifiers.org/ncbigene/64072	64072	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13733	HGNC:13733	cadherin related 23	This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]
http://nanbyodata.jp/ontology/NANDO_1200945	NANDO:1200945	CDH23	http://identifiers.org/ncbigene/64072	64072	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13733	HGNC:13733	cadherin related 23	This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]
http://nanbyodata.jp/ontology/NANDO_1200592	NANDO:1200592	CDKL5	http://identifiers.org/ncbigene/6792	6792	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11411	HGNC:11411	cyclin dependent kinase like 5	This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200603	NANDO:1200603	CDKL5	http://identifiers.org/ncbigene/6792	6792	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11411	HGNC:11411	cyclin dependent kinase like 5	This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200605	NANDO:1200605	CDKL5	http://identifiers.org/ncbigene/6792	6792	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11411	HGNC:11411	cyclin dependent kinase like 5	This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200825	NANDO:2200825	CDKL5	http://identifiers.org/ncbigene/6792	6792	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11411	HGNC:11411	cyclin dependent kinase like 5	This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200878	NANDO:2200878	CDKL5	http://identifiers.org/ncbigene/6792	6792	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11411	HGNC:11411	cyclin dependent kinase like 5	This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201403	NANDO:2201403	CDKL5	http://identifiers.org/ncbigene/6792	6792	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11411	HGNC:11411	cyclin dependent kinase like 5	This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200405	NANDO:2200405	CDKN1B	http://identifiers.org/ncbigene/1027	1027	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1785	HGNC:1785	cyclin dependent kinase inhibitor 1B	This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. Mutations in this gene are associated with multiple endocrine neoplasia type IV (MEN4). [provided by RefSeq, Apr 2014]
http://nanbyodata.jp/ontology/NANDO_1200403	NANDO:1200403	CDKN1C	http://identifiers.org/ncbigene/1028	1028	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1786	HGNC:1786	cyclin dependent kinase inhibitor 1C	This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_1200406	NANDO:1200406	CDKN1C	http://identifiers.org/ncbigene/1028	1028	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1786	HGNC:1786	cyclin dependent kinase inhibitor 1C	This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_2200357	NANDO:2200357	CDKN1C	http://identifiers.org/ncbigene/1028	1028	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1786	HGNC:1786	cyclin dependent kinase inhibitor 1C	This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_2200959	NANDO:2200959	CDKN1C	http://identifiers.org/ncbigene/1028	1028	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1786	HGNC:1786	cyclin dependent kinase inhibitor 1C	This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_2200405	NANDO:2200405	CDKN2C	http://identifiers.org/ncbigene/1031	1031	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1789	HGNC:1789	cyclin dependent kinase inhibitor 2C	The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200004	NANDO:2200004	CEBPA	http://identifiers.org/ncbigene/1050	1050	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1833	HGNC:1833	CCAAT enhancer binding protein alpha	This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons. [provided by RefSeq, Dec 2013]
http://nanbyodata.jp/ontology/NANDO_2200005	NANDO:2200005	CEBPA	http://identifiers.org/ncbigene/1050	1050	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1833	HGNC:1833	CCAAT enhancer binding protein alpha	This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons. [provided by RefSeq, Dec 2013]
http://nanbyodata.jp/ontology/NANDO_2200006	NANDO:2200006	CEBPA	http://identifiers.org/ncbigene/1050	1050	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1833	HGNC:1833	CCAAT enhancer binding protein alpha	This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons. [provided by RefSeq, Dec 2013]
http://nanbyodata.jp/ontology/NANDO_2200007	NANDO:2200007	CEBPA	http://identifiers.org/ncbigene/1050	1050	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1833	HGNC:1833	CCAAT enhancer binding protein alpha	This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons. [provided by RefSeq, Dec 2013]
http://nanbyodata.jp/ontology/NANDO_2200008	NANDO:2200008	CEBPA	http://identifiers.org/ncbigene/1050	1050	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1833	HGNC:1833	CCAAT enhancer binding protein alpha	This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons. [provided by RefSeq, Dec 2013]
http://nanbyodata.jp/ontology/NANDO_2200009	NANDO:2200009	CEBPA	http://identifiers.org/ncbigene/1050	1050	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1833	HGNC:1833	CCAAT enhancer binding protein alpha	This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons. [provided by RefSeq, Dec 2013]
http://nanbyodata.jp/ontology/NANDO_2200010	NANDO:2200010	CEBPA	http://identifiers.org/ncbigene/1050	1050	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1833	HGNC:1833	CCAAT enhancer binding protein alpha	This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons. [provided by RefSeq, Dec 2013]
http://nanbyodata.jp/ontology/NANDO_2200011	NANDO:2200011	CEBPA	http://identifiers.org/ncbigene/1050	1050	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1833	HGNC:1833	CCAAT enhancer binding protein alpha	This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons. [provided by RefSeq, Dec 2013]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	CELSR2	http://identifiers.org/ncbigene/1952	1952	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3231	HGNC:3231	cadherin EGF LAG seven-pass G-type receptor 2	The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	CEP104	http://identifiers.org/ncbigene/9731	9731	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24866	HGNC:24866	centrosomal protein 104	This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	CEP120	http://identifiers.org/ncbigene/153241	153241	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26690	HGNC:26690	centrosomal protein 120	This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	CEP164	http://identifiers.org/ncbigene/22897	22897	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29182	HGNC:29182	centrosomal protein 164	This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	CEP164	http://identifiers.org/ncbigene/22897	22897	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29182	HGNC:29182	centrosomal protein 164	This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
http://nanbyodata.jp/ontology/NANDO_2200140	NANDO:2200140	CEP164	http://identifiers.org/ncbigene/22897	22897	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29182	HGNC:29182	centrosomal protein 164	This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	CEP290	http://identifiers.org/ncbigene/80184	80184	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29021	HGNC:29021	centrosomal protein 290	This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200662	NANDO:1200662	CEP290	http://identifiers.org/ncbigene/80184	80184	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29021	HGNC:29021	centrosomal protein 290	This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	CEP290	http://identifiers.org/ncbigene/80184	80184	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29021	HGNC:29021	centrosomal protein 290	This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200140	NANDO:2200140	CEP290	http://identifiers.org/ncbigene/80184	80184	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29021	HGNC:29021	centrosomal protein 290	This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200414	NANDO:2200414	CEP290	http://identifiers.org/ncbigene/80184	80184	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29021	HGNC:29021	centrosomal protein 290	This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200824	NANDO:2200824	CEP290	http://identifiers.org/ncbigene/80184	80184	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29021	HGNC:29021	centrosomal protein 290	This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	CEP41	http://identifiers.org/ncbigene/95681	95681	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12370	HGNC:12370	centrosomal protein 41	This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	CEP83	http://identifiers.org/ncbigene/51134	51134	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17966	HGNC:17966	centrosomal protein 83	The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]
http://nanbyodata.jp/ontology/NANDO_1200609	NANDO:1200609	CERS3	http://identifiers.org/ncbigene/204219	204219	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23752	HGNC:23752	ceramide synthase 3	This gene is a member of the ceramide synthase family of genes. The ceramide synthase enzymes regulate sphingolipid synthesis by catalyzing the formation of ceramides from sphingoid base and acyl-coA substrates. This family member is involved in the synthesis of ceramides with ultra-long-chain acyl moieties (ULC-Cers), important to the epidermis in its role in creating a protective barrier from the environment. The protein encoded by this gene has also been implicated in modification of the lipid structures required for spermatogenesis. Mutations in this gene have been associated with male fertility defects, and epidermal defects, including ichthyosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	CFAP298	http://identifiers.org/ncbigene/56683	56683	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1301	HGNC:1301	cilia and flagella associated protein 298	This gene encodes a protein that plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Naturally occuring readthrough transcription occurs from this locus to the downstream t-complex 10 like (TCP10L) gene. [provided by RefSeq, Apr 2017]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	CFAP57	http://identifiers.org/ncbigene/149465	149465	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26485	HGNC:26485	cilia and flagella associated protein 57	This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_1200473	NANDO:1200473	CFB	http://identifiers.org/ncbigene/629	629	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1037	HGNC:1037	complement factor B	This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200131	NANDO:2200131	CFB	http://identifiers.org/ncbigene/629	629	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1037	HGNC:1037	complement factor B	This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	CFD	http://identifiers.org/ncbigene/1675	1675	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2771	HGNC:2771	complement factor D	This gene encodes a member of the S1, or chymotrypsin, family of serine peptidases. This protease catalyzes the cleavage of factor B, the rate-limiting step of the alternative pathway of complement activation. This protein also functions as an adipokine, a cell signaling protein secreted by adipocytes, which regulates insulin secretion in mice. Mutations in this gene underlie complement factor D deficiency, which is associated with recurrent bacterial meningitis infections in human patients. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protease. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_1200364	NANDO:1200364	CFD	http://identifiers.org/ncbigene/1675	1675	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2771	HGNC:2771	complement factor D	This gene encodes a member of the S1, or chymotrypsin, family of serine peptidases. This protease catalyzes the cleavage of factor B, the rate-limiting step of the alternative pathway of complement activation. This protein also functions as an adipokine, a cell signaling protein secreted by adipocytes, which regulates insulin secretion in mice. Mutations in this gene underlie complement factor D deficiency, which is associated with recurrent bacterial meningitis infections in human patients. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protease. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_2200776	NANDO:2200776	CFD	http://identifiers.org/ncbigene/1675	1675	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2771	HGNC:2771	complement factor D	This gene encodes a member of the S1, or chymotrypsin, family of serine peptidases. This protease catalyzes the cleavage of factor B, the rate-limiting step of the alternative pathway of complement activation. This protein also functions as an adipokine, a cell signaling protein secreted by adipocytes, which regulates insulin secretion in mice. Mutations in this gene underlie complement factor D deficiency, which is associated with recurrent bacterial meningitis infections in human patients. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protease. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_2200788	NANDO:2200788	CFD	http://identifiers.org/ncbigene/1675	1675	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2771	HGNC:2771	complement factor D	This gene encodes a member of the S1, or chymotrypsin, family of serine peptidases. This protease catalyzes the cleavage of factor B, the rate-limiting step of the alternative pathway of complement activation. This protein also functions as an adipokine, a cell signaling protein secreted by adipocytes, which regulates insulin secretion in mice. Mutations in this gene underlie complement factor D deficiency, which is associated with recurrent bacterial meningitis infections in human patients. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protease. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	CFH	http://identifiers.org/ncbigene/3075	3075	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4883	HGNC:4883	complement factor H	This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]
http://nanbyodata.jp/ontology/NANDO_1200364	NANDO:1200364	CFH	http://identifiers.org/ncbigene/3075	3075	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4883	HGNC:4883	complement factor H	This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]
http://nanbyodata.jp/ontology/NANDO_1200473	NANDO:1200473	CFH	http://identifiers.org/ncbigene/3075	3075	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4883	HGNC:4883	complement factor H	This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]
http://nanbyodata.jp/ontology/NANDO_2200131	NANDO:2200131	CFH	http://identifiers.org/ncbigene/3075	3075	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4883	HGNC:4883	complement factor H	This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]
http://nanbyodata.jp/ontology/NANDO_2200776	NANDO:2200776	CFH	http://identifiers.org/ncbigene/3075	3075	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4883	HGNC:4883	complement factor H	This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]
http://nanbyodata.jp/ontology/NANDO_2200791	NANDO:2200791	CFH	http://identifiers.org/ncbigene/3075	3075	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4883	HGNC:4883	complement factor H	This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	CFI	http://identifiers.org/ncbigene/3426	3426	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5394	HGNC:5394	complement factor I	This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_1200364	NANDO:1200364	CFI	http://identifiers.org/ncbigene/3426	3426	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5394	HGNC:5394	complement factor I	This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_1200473	NANDO:1200473	CFI	http://identifiers.org/ncbigene/3426	3426	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5394	HGNC:5394	complement factor I	This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_2200131	NANDO:2200131	CFI	http://identifiers.org/ncbigene/3426	3426	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5394	HGNC:5394	complement factor I	This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_2200776	NANDO:2200776	CFI	http://identifiers.org/ncbigene/3426	3426	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5394	HGNC:5394	complement factor I	This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_2200790	NANDO:2200790	CFI	http://identifiers.org/ncbigene/3426	3426	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5394	HGNC:5394	complement factor I	This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_1200477	NANDO:1200477	CFL2	http://identifiers.org/ncbigene/1073	1073	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1875	HGNC:1875	cofilin 2	This gene encodes an intracellular protein that is involved in the regulation of actin-filament dynamics. This protein is a major component of intranuclear and cytoplasmic actin rods. It can bind G- and F-actin in a 1:1 ratio of cofilin to actin, and it reversibly controls actin polymerization and depolymerization in a pH-dependent manner. Mutations in this gene cause nemaline myopathy type 7, a form of congenital myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
http://nanbyodata.jp/ontology/NANDO_1200478	NANDO:1200478	CFL2	http://identifiers.org/ncbigene/1073	1073	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1875	HGNC:1875	cofilin 2	This gene encodes an intracellular protein that is involved in the regulation of actin-filament dynamics. This protein is a major component of intranuclear and cytoplasmic actin rods. It can bind G- and F-actin in a 1:1 ratio of cofilin to actin, and it reversibly controls actin polymerization and depolymerization in a pH-dependent manner. Mutations in this gene cause nemaline myopathy type 7, a form of congenital myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
http://nanbyodata.jp/ontology/NANDO_2200869	NANDO:2200869	CFL2	http://identifiers.org/ncbigene/1073	1073	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1875	HGNC:1875	cofilin 2	This gene encodes an intracellular protein that is involved in the regulation of actin-filament dynamics. This protein is a major component of intranuclear and cytoplasmic actin rods. It can bind G- and F-actin in a 1:1 ratio of cofilin to actin, and it reversibly controls actin polymerization and depolymerization in a pH-dependent manner. Mutations in this gene cause nemaline myopathy type 7, a form of congenital myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	CFP	http://identifiers.org/ncbigene/5199	5199	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8864	HGNC:8864	complement factor properdin	This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_1200364	NANDO:1200364	CFP	http://identifiers.org/ncbigene/5199	5199	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8864	HGNC:8864	complement factor properdin	This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_2200776	NANDO:2200776	CFP	http://identifiers.org/ncbigene/5199	5199	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8864	HGNC:8864	complement factor properdin	This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_2200789	NANDO:2200789	CFP	http://identifiers.org/ncbigene/5199	5199	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8864	HGNC:8864	complement factor properdin	This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_1200922	NANDO:1200922	CFTR	http://identifiers.org/ncbigene/1080	1080	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1884	HGNC:1884	CF transmembrane conductance regulator	This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200205	NANDO:2200205	CFTR	http://identifiers.org/ncbigene/1080	1080	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1884	HGNC:1884	CF transmembrane conductance regulator	This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200463	NANDO:2200463	CFTR	http://identifiers.org/ncbigene/1080	1080	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1884	HGNC:1884	CF transmembrane conductance regulator	This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2201435	NANDO:2201435	CFTR	http://identifiers.org/ncbigene/1080	1080	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1884	HGNC:1884	CF transmembrane conductance regulator	This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200021	NANDO:1200021	CHAT	http://identifiers.org/ncbigene/1103	1103	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1912	HGNC:1912	choline O-acetyltransferase	This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer's disease. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_1200591	NANDO:1200591	CHD2	http://identifiers.org/ncbigene/1106	1106	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1917	HGNC:1917	chromodomain helicase DNA binding protein 2	The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200464	NANDO:1200464	CHD7	http://identifiers.org/ncbigene/55636	55636	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20626	HGNC:20626	chromodomain helicase DNA binding protein 7	This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_2200972	NANDO:2200972	CHD7	http://identifiers.org/ncbigene/55636	55636	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20626	HGNC:20626	chromodomain helicase DNA binding protein 7	This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200021	NANDO:1200021	CHRNA1	http://identifiers.org/ncbigene/1134	1134	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1955	HGNC:1955	cholinergic receptor nicotinic alpha 1 subunit	The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012]
http://nanbyodata.jp/ontology/NANDO_1200021	NANDO:1200021	CHRNB1	http://identifiers.org/ncbigene/1140	1140	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1961	HGNC:1961	cholinergic receptor nicotinic beta 1 subunit	The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200021	NANDO:1200021	CHRND	http://identifiers.org/ncbigene/1144	1144	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1965	HGNC:1965	cholinergic receptor nicotinic delta subunit	The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
http://nanbyodata.jp/ontology/NANDO_1200021	NANDO:1200021	CHRNE	http://identifiers.org/ncbigene/1145	1145	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1966	HGNC:1966	cholinergic receptor nicotinic epsilon subunit	Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200645	NANDO:1200645	CHST14	http://identifiers.org/ncbigene/113189	113189	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24464	HGNC:24464	carbohydrate sulfotransferase 14	This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot syndrome.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200652	NANDO:1200652	CHST14	http://identifiers.org/ncbigene/113189	113189	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24464	HGNC:24464	carbohydrate sulfotransferase 14	This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot syndrome.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1201089	NANDO:1201089	CHST14	http://identifiers.org/ncbigene/113189	113189	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24464	HGNC:24464	carbohydrate sulfotransferase 14	This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot syndrome.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200607	NANDO:2200607	CHST14	http://identifiers.org/ncbigene/113189	113189	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24464	HGNC:24464	carbohydrate sulfotransferase 14	This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot syndrome.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200941	NANDO:1200941	CIB2	http://identifiers.org/ncbigene/10518	10518	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24579	HGNC:24579	calcium and integrin binding family member 2	The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_1200858	NANDO:1200858	CIDEC	http://identifiers.org/ncbigene/63924	63924	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24229	HGNC:24229	cell death inducing DFFA like effector c	This gene encodes a member of the cell death-inducing DNA fragmentation factor-like effector family. Members of this family play important roles in apoptosis. The encoded protein promotes lipid droplet formation in adipocytes and may mediate adipocyte apoptosis. This gene is regulated by insulin and its expression is positively correlated with insulin sensitivity. Mutations in this gene may contribute to insulin resistant diabetes. A pseudogene of this gene is located on the short arm of chromosome 3. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
http://nanbyodata.jp/ontology/NANDO_1200861	NANDO:1200861	CIDEC	http://identifiers.org/ncbigene/63924	63924	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24229	HGNC:24229	cell death inducing DFFA like effector c	This gene encodes a member of the cell death-inducing DNA fragmentation factor-like effector family. Members of this family play important roles in apoptosis. The encoded protein promotes lipid droplet formation in adipocytes and may mediate adipocyte apoptosis. This gene is regulated by insulin and its expression is positively correlated with insulin sensitivity. Mutations in this gene may contribute to insulin resistant diabetes. A pseudogene of this gene is located on the short arm of chromosome 3. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
http://nanbyodata.jp/ontology/NANDO_2200404	NANDO:2200404	CIDEC	http://identifiers.org/ncbigene/63924	63924	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24229	HGNC:24229	cell death inducing DFFA like effector c	This gene encodes a member of the cell death-inducing DNA fragmentation factor-like effector family. Members of this family play important roles in apoptosis. The encoded protein promotes lipid droplet formation in adipocytes and may mediate adipocyte apoptosis. This gene is regulated by insulin and its expression is positively correlated with insulin sensitivity. Mutations in this gene may contribute to insulin resistant diabetes. A pseudogene of this gene is located on the short arm of chromosome 3. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
http://nanbyodata.jp/ontology/NANDO_2201443	NANDO:2201443	CIDEC	http://identifiers.org/ncbigene/63924	63924	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24229	HGNC:24229	cell death inducing DFFA like effector c	This gene encodes a member of the cell death-inducing DNA fragmentation factor-like effector family. Members of this family play important roles in apoptosis. The encoded protein promotes lipid droplet formation in adipocytes and may mediate adipocyte apoptosis. This gene is regulated by insulin and its expression is positively correlated with insulin sensitivity. Mutations in this gene may contribute to insulin resistant diabetes. A pseudogene of this gene is located on the short arm of chromosome 3. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
http://nanbyodata.jp/ontology/NANDO_2201446	NANDO:2201446	CIDEC	http://identifiers.org/ncbigene/63924	63924	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24229	HGNC:24229	cell death inducing DFFA like effector c	This gene encodes a member of the cell death-inducing DNA fragmentation factor-like effector family. Members of this family play important roles in apoptosis. The encoded protein promotes lipid droplet formation in adipocytes and may mediate adipocyte apoptosis. This gene is regulated by insulin and its expression is positively correlated with insulin sensitivity. Mutations in this gene may contribute to insulin resistant diabetes. A pseudogene of this gene is located on the short arm of chromosome 3. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	CIITA	http://identifiers.org/ncbigene/4261	4261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7067	HGNC:7067	class II major histocompatibility complex transactivator	"This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene transcription, and is referred to as the ""master control factor"" for the expression of these genes. The protein also binds GTP and uses GTP binding to facilitate its own transport into the nucleus. Once in the nucleus it does not bind DNA but rather uses an intrinsic acetyltransferase (AT) activity to act in a coactivator-like fashion. Mutations in this gene have been associated with bare lymphocyte syndrome type II (also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency), increased susceptibility to rheumatoid arthritis, multiple sclerosis, and possibly myocardial infarction. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]"
http://nanbyodata.jp/ontology/NANDO_1200329	NANDO:1200329	CIITA	http://identifiers.org/ncbigene/4261	4261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7067	HGNC:7067	class II major histocompatibility complex transactivator	"This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene transcription, and is referred to as the ""master control factor"" for the expression of these genes. The protein also binds GTP and uses GTP binding to facilitate its own transport into the nucleus. Once in the nucleus it does not bind DNA but rather uses an intrinsic acetyltransferase (AT) activity to act in a coactivator-like fashion. Mutations in this gene have been associated with bare lymphocyte syndrome type II (also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency), increased susceptibility to rheumatoid arthritis, multiple sclerosis, and possibly myocardial infarction. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]"
http://nanbyodata.jp/ontology/NANDO_2200702	NANDO:2200702	CIITA	http://identifiers.org/ncbigene/4261	4261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7067	HGNC:7067	class II major histocompatibility complex transactivator	"This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene transcription, and is referred to as the ""master control factor"" for the expression of these genes. The protein also binds GTP and uses GTP binding to facilitate its own transport into the nucleus. Once in the nucleus it does not bind DNA but rather uses an intrinsic acetyltransferase (AT) activity to act in a coactivator-like fashion. Mutations in this gene have been associated with bare lymphocyte syndrome type II (also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency), increased susceptibility to rheumatoid arthritis, multiple sclerosis, and possibly myocardial infarction. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]"
http://nanbyodata.jp/ontology/NANDO_1200757	NANDO:1200757	CISD2	http://identifiers.org/ncbigene/493856	493856	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24212	HGNC:24212	CDGSH iron sulfur domain 2	The protein encoded by this gene is a zinc finger protein that localizes to the endoplasmic reticulum. The encoded protein binds an iron/sulfur cluster and may be involved in calcium homeostasis. Defects in this gene are a cause of Wolfram syndrome 2. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_1200496	NANDO:1200496	CLCN1	http://identifiers.org/ncbigene/1180	1180	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2019	HGNC:2019	chloride voltage-gated channel 1	The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_1200497	NANDO:1200497	CLCN1	http://identifiers.org/ncbigene/1180	1180	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2019	HGNC:2019	chloride voltage-gated channel 1	The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_2201508	NANDO:2201508	CLCN1	http://identifiers.org/ncbigene/1180	1180	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2019	HGNC:2019	chloride voltage-gated channel 1	The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_2201509	NANDO:2201509	CLCN1	http://identifiers.org/ncbigene/1180	1180	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2019	HGNC:2019	chloride voltage-gated channel 1	The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_2201510	NANDO:2201510	CLCN1	http://identifiers.org/ncbigene/1180	1180	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2019	HGNC:2019	chloride voltage-gated channel 1	The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_2201511	NANDO:2201511	CLCN1	http://identifiers.org/ncbigene/1180	1180	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2019	HGNC:2019	chloride voltage-gated channel 1	The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_2200187	NANDO:2200187	CLCN5	http://identifiers.org/ncbigene/1184	1184	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2023	HGNC:2023	chloride voltage-gated channel 5	This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
http://nanbyodata.jp/ontology/NANDO_1200998	NANDO:1200998	CLCN7	http://identifiers.org/ncbigene/1186	1186	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2025	HGNC:2025	chloride voltage-gated channel 7	The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201013	NANDO:2201013	CLCN7	http://identifiers.org/ncbigene/1186	1186	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2025	HGNC:2025	chloride voltage-gated channel 7	The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200146	NANDO:2200146	CLCNKA	http://identifiers.org/ncbigene/1187	1187	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2026	HGNC:2026	chloride voltage-gated channel Ka	This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a functional channel. It is thought to function in salt reabsorption in the kidney and potassium recycling in the inner ear. The gene is highly similar to CLCNKB, which is located 10 kb downstream from this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200146	NANDO:2200146	CLCNKB	http://identifiers.org/ncbigene/1188	1188	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2027	HGNC:2027	chloride voltage-gated channel Kb	The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	CLK1	http://identifiers.org/ncbigene/1195	1195	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2068	HGNC:2068	CDC like kinase 1	This gene encodes a member of the CDC2-like (or LAMMER) family of dual specificity protein kinases. In the nucleus, the encoded protein phosphorylates serine/arginine-rich proteins involved in pre-mRNA processing, releasing them into the nucleoplasm. The choice of splice sites during pre-mRNA processing may be regulated by the concentration of transacting factors, including serine/arginine rich proteins. Therefore, the encoded protein may play an indirect role in governing splice site selection. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
http://nanbyodata.jp/ontology/NANDO_1200364	NANDO:1200364	CLK1	http://identifiers.org/ncbigene/1195	1195	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2068	HGNC:2068	CDC like kinase 1	This gene encodes a member of the CDC2-like (or LAMMER) family of dual specificity protein kinases. In the nucleus, the encoded protein phosphorylates serine/arginine-rich proteins involved in pre-mRNA processing, releasing them into the nucleoplasm. The choice of splice sites during pre-mRNA processing may be regulated by the concentration of transacting factors, including serine/arginine rich proteins. Therefore, the encoded protein may play an indirect role in governing splice site selection. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
http://nanbyodata.jp/ontology/NANDO_2200776	NANDO:2200776	CLK1	http://identifiers.org/ncbigene/1195	1195	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2068	HGNC:2068	CDC like kinase 1	This gene encodes a member of the CDC2-like (or LAMMER) family of dual specificity protein kinases. In the nucleus, the encoded protein phosphorylates serine/arginine-rich proteins involved in pre-mRNA processing, releasing them into the nucleoplasm. The choice of splice sites during pre-mRNA processing may be regulated by the concentration of transacting factors, including serine/arginine rich proteins. Therefore, the encoded protein may play an indirect role in governing splice site selection. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
http://nanbyodata.jp/ontology/NANDO_2200792	NANDO:2200792	CLK1	http://identifiers.org/ncbigene/1195	1195	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2068	HGNC:2068	CDC like kinase 1	This gene encodes a member of the CDC2-like (or LAMMER) family of dual specificity protein kinases. In the nucleus, the encoded protein phosphorylates serine/arginine-rich proteins involved in pre-mRNA processing, releasing them into the nucleoplasm. The choice of splice sites during pre-mRNA processing may be regulated by the concentration of transacting factors, including serine/arginine rich proteins. Therefore, the encoded protein may play an indirect role in governing splice site selection. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
http://nanbyodata.jp/ontology/NANDO_2200573	NANDO:2200573	CLN3	http://identifiers.org/ncbigene/1201	1201	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2074	HGNC:2074	CLN3 lysosomal/endosomal transmembrane protein, battenin	This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200573	NANDO:2200573	CLN5	http://identifiers.org/ncbigene/1203	1203	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2076	HGNC:2076	CLN5 intracellular trafficking protein	This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200573	NANDO:2200573	CLN6	http://identifiers.org/ncbigene/54982	54982	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2077	HGNC:2077	CLN6 transmembrane ER protein	This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200573	NANDO:2200573	CLN8	http://identifiers.org/ncbigene/2055	2055	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2079	HGNC:2079	CLN8 transmembrane ER and ERGIC protein	This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017]
http://nanbyodata.jp/ontology/NANDO_1200941	NANDO:1200941	CLRN1	http://identifiers.org/ncbigene/7401	7401	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12605	HGNC:12605	clarin 1	This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200944	NANDO:1200944	CLRN1	http://identifiers.org/ncbigene/7401	7401	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12605	HGNC:12605	clarin 1	This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	CLUAP1	http://identifiers.org/ncbigene/23059	23059	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19009	HGNC:19009	clusterin associated protein 1	The protein encoded by this gene contains a single coiled-coil region. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	CNBP	http://identifiers.org/ncbigene/7555	7555	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13164	HGNC:13164	CCHC-type zinc finger nucleic acid binding protein	This gene encodes a nucleic-acid binding protein with seven zinc-finger domains. The protein has a preference for binding single stranded DNA and RNA. The protein functions in cap-independent translation of ornithine decarboxylase mRNA, and may also function in sterol-mediated transcriptional regulation. A CCTG expansion from <30 repeats to 75-11000 repeats in the first intron of this gene results in myotonic dystrophy type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	CNBP	http://identifiers.org/ncbigene/7555	7555	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13164	HGNC:13164	CCHC-type zinc finger nucleic acid binding protein	This gene encodes a nucleic-acid binding protein with seven zinc-finger domains. The protein has a preference for binding single stranded DNA and RNA. The protein functions in cap-independent translation of ornithine decarboxylase mRNA, and may also function in sterol-mediated transcriptional regulation. A CCTG expansion from <30 repeats to 75-11000 repeats in the first intron of this gene results in myotonic dystrophy type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2200864	NANDO:2200864	CNBP	http://identifiers.org/ncbigene/7555	7555	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13164	HGNC:13164	CCHC-type zinc finger nucleic acid binding protein	This gene encodes a nucleic-acid binding protein with seven zinc-finger domains. The protein has a preference for binding single stranded DNA and RNA. The protein functions in cap-independent translation of ornithine decarboxylase mRNA, and may also function in sterol-mediated transcriptional regulation. A CCTG expansion from <30 repeats to 75-11000 repeats in the first intron of this gene results in myotonic dystrophy type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_1200673	NANDO:1200673	CNST	http://identifiers.org/ncbigene/163882	163882	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26486	HGNC:26486	consortin, connexin sorting protein	Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the distal end of the Golgi complex. Consortin (CNST) is an integral membrane protein that acts as a binding partner of connexins, the building blocks of gap junctions, and acts as a trans-Golgi network (TGN) receptor involved in connexin targeting to the plasma membrane and recycling from the cell surface (del Castillo et al., 2010 [PubMed 19864490]).[supplied by OMIM, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_1200674	NANDO:1200674	CNST	http://identifiers.org/ncbigene/163882	163882	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26486	HGNC:26486	consortin, connexin sorting protein	Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the distal end of the Golgi complex. Consortin (CNST) is an integral membrane protein that acts as a binding partner of connexins, the building blocks of gap junctions, and acts as a trans-Golgi network (TGN) receptor involved in connexin targeting to the plasma membrane and recycling from the cell surface (del Castillo et al., 2010 [PubMed 19864490]).[supplied by OMIM, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_2200309	NANDO:2200309	CNST	http://identifiers.org/ncbigene/163882	163882	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26486	HGNC:26486	consortin, connexin sorting protein	Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the distal end of the Golgi complex. Consortin (CNST) is an integral membrane protein that acts as a binding partner of connexins, the building blocks of gap junctions, and acts as a trans-Golgi network (TGN) receptor involved in connexin targeting to the plasma membrane and recycling from the cell surface (del Castillo et al., 2010 [PubMed 19864490]).[supplied by OMIM, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_2200310	NANDO:2200310	CNST	http://identifiers.org/ncbigene/163882	163882	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26486	HGNC:26486	consortin, connexin sorting protein	Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the distal end of the Golgi complex. Consortin (CNST) is an integral membrane protein that acts as a binding partner of connexins, the building blocks of gap junctions, and acts as a trans-Golgi network (TGN) receptor involved in connexin targeting to the plasma membrane and recycling from the cell surface (del Castillo et al., 2010 [PubMed 19864490]).[supplied by OMIM, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_1200542	NANDO:1200542	COASY	http://identifiers.org/ncbigene/80347	80347	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29932	HGNC:29932	Coenzyme A synthase	Coenzyme A (CoA) functions as a carrier of acetyl and acyl groups in cells and thus plays an important role in numerous synthetic and degradative metabolic pathways in all organisms. In eukaryotes, CoA and its derivatives are also involved in membrane trafficking and signal transduction. This gene encodes the bifunctional protein coenzyme A synthase (CoAsy) which carries out the last two steps in the biosynthesis of CoA from pantothenic acid (vitamin B5). The phosphopantetheine adenylyltransferase domain of this bifunctional protein catalyzes the conversion of 4'-phosphopantetheine into dephospho-coenzyme A (dpCoA) while its dephospho-CoA kinase domain completes the final step by phosphorylating dpCoA to form CoA. Mutations in this gene are associated with neurodegeneration with brain iron accumulation (NBIA). Alternative splicing results in multiple isoforms. [provided by RefSeq, Apr 2014]
http://nanbyodata.jp/ontology/NANDO_1200945	NANDO:1200945	COCH	http://identifiers.org/ncbigene/1690	1690	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2180	HGNC:2180	cochlin	The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2201016	NANDO:2201016	COL11A1	http://identifiers.org/ncbigene/1301	1301	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2186	HGNC:2186	collagen type XI alpha 1 chain	This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_1200645	NANDO:1200645	COL12A1	http://identifiers.org/ncbigene/1303	1303	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2188	HGNC:2188	collagen type XII alpha 1 chain	This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201090	NANDO:1201090	COL12A1	http://identifiers.org/ncbigene/1303	1303	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2188	HGNC:2188	collagen type XII alpha 1 chain	This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200234	NANDO:1200234	COL17A1	http://identifiers.org/ncbigene/1308	1308	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2194	HGNC:2194	collagen type XVII alpha 1 chain	This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200236	NANDO:1200236	COL17A1	http://identifiers.org/ncbigene/1308	1308	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2194	HGNC:2194	collagen type XVII alpha 1 chain	This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201066	NANDO:1201066	COL17A1	http://identifiers.org/ncbigene/1308	1308	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2194	HGNC:2194	collagen type XVII alpha 1 chain	This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201342	NANDO:2201342	COL17A1	http://identifiers.org/ncbigene/1308	1308	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2194	HGNC:2194	collagen type XVII alpha 1 chain	This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201379	NANDO:2201379	COL17A1	http://identifiers.org/ncbigene/1308	1308	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2194	HGNC:2194	collagen type XVII alpha 1 chain	This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200645	NANDO:1200645	COL1A1	http://identifiers.org/ncbigene/1277	1277	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2197	HGNC:2197	collagen type I alpha 1 chain	This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
http://nanbyodata.jp/ontology/NANDO_1200646	NANDO:1200646	COL1A1	http://identifiers.org/ncbigene/1277	1277	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2197	HGNC:2197	collagen type I alpha 1 chain	This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
http://nanbyodata.jp/ontology/NANDO_1200650	NANDO:1200650	COL1A1	http://identifiers.org/ncbigene/1277	1277	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2197	HGNC:2197	collagen type I alpha 1 chain	This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
http://nanbyodata.jp/ontology/NANDO_1200873	NANDO:1200873	COL1A1	http://identifiers.org/ncbigene/1277	1277	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2197	HGNC:2197	collagen type I alpha 1 chain	This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
http://nanbyodata.jp/ontology/NANDO_2200607	NANDO:2200607	COL1A1	http://identifiers.org/ncbigene/1277	1277	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2197	HGNC:2197	collagen type I alpha 1 chain	This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
http://nanbyodata.jp/ontology/NANDO_2201011	NANDO:2201011	COL1A1	http://identifiers.org/ncbigene/1277	1277	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2197	HGNC:2197	collagen type I alpha 1 chain	This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
http://nanbyodata.jp/ontology/NANDO_2201260	NANDO:2201260	COL1A1	http://identifiers.org/ncbigene/1277	1277	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2197	HGNC:2197	collagen type I alpha 1 chain	This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
http://nanbyodata.jp/ontology/NANDO_1200645	NANDO:1200645	COL1A2	http://identifiers.org/ncbigene/1278	1278	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2198	HGNC:2198	collagen type I alpha 2 chain	This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
http://nanbyodata.jp/ontology/NANDO_1200650	NANDO:1200650	COL1A2	http://identifiers.org/ncbigene/1278	1278	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2198	HGNC:2198	collagen type I alpha 2 chain	This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
http://nanbyodata.jp/ontology/NANDO_1200873	NANDO:1200873	COL1A2	http://identifiers.org/ncbigene/1278	1278	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2198	HGNC:2198	collagen type I alpha 2 chain	This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
http://nanbyodata.jp/ontology/NANDO_1201086	NANDO:1201086	COL1A2	http://identifiers.org/ncbigene/1278	1278	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2198	HGNC:2198	collagen type I alpha 2 chain	This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
http://nanbyodata.jp/ontology/NANDO_2200607	NANDO:2200607	COL1A2	http://identifiers.org/ncbigene/1278	1278	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2198	HGNC:2198	collagen type I alpha 2 chain	This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
http://nanbyodata.jp/ontology/NANDO_2201011	NANDO:2201011	COL1A2	http://identifiers.org/ncbigene/1278	1278	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2198	HGNC:2198	collagen type I alpha 2 chain	This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
http://nanbyodata.jp/ontology/NANDO_2201260	NANDO:2201260	COL1A2	http://identifiers.org/ncbigene/1278	1278	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2198	HGNC:2198	collagen type I alpha 2 chain	This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
http://nanbyodata.jp/ontology/NANDO_2201016	NANDO:2201016	COL2A1	http://identifiers.org/ncbigene/1280	1280	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2200	HGNC:2200	collagen type II alpha 1 chain	This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200645	NANDO:1200645	COL3A1	http://identifiers.org/ncbigene/1281	1281	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2201	HGNC:2201	collagen type III alpha 1 chain	This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
http://nanbyodata.jp/ontology/NANDO_1200648	NANDO:1200648	COL3A1	http://identifiers.org/ncbigene/1281	1281	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2201	HGNC:2201	collagen type III alpha 1 chain	This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
http://nanbyodata.jp/ontology/NANDO_2200607	NANDO:2200607	COL3A1	http://identifiers.org/ncbigene/1281	1281	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2201	HGNC:2201	collagen type III alpha 1 chain	This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
http://nanbyodata.jp/ontology/NANDO_2201258	NANDO:2201258	COL3A1	http://identifiers.org/ncbigene/1281	1281	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2201	HGNC:2201	collagen type III alpha 1 chain	This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
http://nanbyodata.jp/ontology/NANDO_1200574	NANDO:1200574	COL4A1	http://identifiers.org/ncbigene/1282	1282	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2202	HGNC:2202	collagen type IV alpha 1 chain	This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
http://nanbyodata.jp/ontology/NANDO_1201073	NANDO:1201073	COL4A1	http://identifiers.org/ncbigene/1282	1282	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2202	HGNC:2202	collagen type IV alpha 1 chain	This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
http://nanbyodata.jp/ontology/NANDO_1201074	NANDO:1201074	COL4A1	http://identifiers.org/ncbigene/1282	1282	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2202	HGNC:2202	collagen type IV alpha 1 chain	This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
http://nanbyodata.jp/ontology/NANDO_2200818	NANDO:2200818	COL4A1	http://identifiers.org/ncbigene/1282	1282	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2202	HGNC:2202	collagen type IV alpha 1 chain	This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
http://nanbyodata.jp/ontology/NANDO_1200712	NANDO:1200712	COL4A3	http://identifiers.org/ncbigene/1285	1285	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2204	HGNC:2204	collagen type IV alpha 3 chain	Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_2200126	NANDO:2200126	COL4A3	http://identifiers.org/ncbigene/1285	1285	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2204	HGNC:2204	collagen type IV alpha 3 chain	Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_1200712	NANDO:1200712	COL4A4	http://identifiers.org/ncbigene/1286	1286	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2206	HGNC:2206	collagen type IV alpha 4 chain	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200126	NANDO:2200126	COL4A4	http://identifiers.org/ncbigene/1286	1286	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2206	HGNC:2206	collagen type IV alpha 4 chain	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200712	NANDO:1200712	COL4A5	http://identifiers.org/ncbigene/1287	1287	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2207	HGNC:2207	collagen type IV alpha 5 chain	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_2200126	NANDO:2200126	COL4A5	http://identifiers.org/ncbigene/1287	1287	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2207	HGNC:2207	collagen type IV alpha 5 chain	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_1200645	NANDO:1200645	COL5A1	http://identifiers.org/ncbigene/1289	1289	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2209	HGNC:2209	collagen type V alpha 1 chain	This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
http://nanbyodata.jp/ontology/NANDO_1200646	NANDO:1200646	COL5A1	http://identifiers.org/ncbigene/1289	1289	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2209	HGNC:2209	collagen type V alpha 1 chain	This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
http://nanbyodata.jp/ontology/NANDO_2200607	NANDO:2200607	COL5A1	http://identifiers.org/ncbigene/1289	1289	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2209	HGNC:2209	collagen type V alpha 1 chain	This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
http://nanbyodata.jp/ontology/NANDO_2201256	NANDO:2201256	COL5A1	http://identifiers.org/ncbigene/1289	1289	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2209	HGNC:2209	collagen type V alpha 1 chain	This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
http://nanbyodata.jp/ontology/NANDO_1200645	NANDO:1200645	COL5A2	http://identifiers.org/ncbigene/1290	1290	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2210	HGNC:2210	collagen type V alpha 2 chain	This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200646	NANDO:1200646	COL5A2	http://identifiers.org/ncbigene/1290	1290	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2210	HGNC:2210	collagen type V alpha 2 chain	This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200607	NANDO:2200607	COL5A2	http://identifiers.org/ncbigene/1290	1290	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2210	HGNC:2210	collagen type V alpha 2 chain	This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200215	NANDO:1200215	COL6A1	http://identifiers.org/ncbigene/1291	1291	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2211	HGNC:2211	collagen type VI alpha 1 chain	The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200220	NANDO:1200220	COL6A1	http://identifiers.org/ncbigene/1291	1291	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2211	HGNC:2211	collagen type VI alpha 1 chain	The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200862	NANDO:2200862	COL6A1	http://identifiers.org/ncbigene/1291	1291	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2211	HGNC:2211	collagen type VI alpha 1 chain	The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	COL6A1	http://identifiers.org/ncbigene/1291	1291	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2211	HGNC:2211	collagen type VI alpha 1 chain	The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200215	NANDO:1200215	COL6A2	http://identifiers.org/ncbigene/1292	1292	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2212	HGNC:2212	collagen type VI alpha 2 chain	This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200220	NANDO:1200220	COL6A2	http://identifiers.org/ncbigene/1292	1292	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2212	HGNC:2212	collagen type VI alpha 2 chain	This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200862	NANDO:2200862	COL6A2	http://identifiers.org/ncbigene/1292	1292	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2212	HGNC:2212	collagen type VI alpha 2 chain	This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	COL6A2	http://identifiers.org/ncbigene/1292	1292	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2212	HGNC:2212	collagen type VI alpha 2 chain	This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200215	NANDO:1200215	COL6A3	http://identifiers.org/ncbigene/1293	1293	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2213	HGNC:2213	collagen type VI alpha 3 chain	This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]
http://nanbyodata.jp/ontology/NANDO_1200220	NANDO:1200220	COL6A3	http://identifiers.org/ncbigene/1293	1293	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2213	HGNC:2213	collagen type VI alpha 3 chain	This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	COL6A3	http://identifiers.org/ncbigene/1293	1293	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2213	HGNC:2213	collagen type VI alpha 3 chain	This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]
http://nanbyodata.jp/ontology/NANDO_2200862	NANDO:2200862	COL6A3	http://identifiers.org/ncbigene/1293	1293	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2213	HGNC:2213	collagen type VI alpha 3 chain	This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	COL6A3	http://identifiers.org/ncbigene/1293	1293	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2213	HGNC:2213	collagen type VI alpha 3 chain	This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]
http://nanbyodata.jp/ontology/NANDO_1200234	NANDO:1200234	COL7A1	http://identifiers.org/ncbigene/1294	1294	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2214	HGNC:2214	collagen type VII alpha 1 chain	This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200238	NANDO:1200238	COL7A1	http://identifiers.org/ncbigene/1294	1294	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2214	HGNC:2214	collagen type VII alpha 1 chain	This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201000	NANDO:2201000	COL7A1	http://identifiers.org/ncbigene/1294	1294	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2214	HGNC:2214	collagen type VII alpha 1 chain	This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201343	NANDO:2201343	COL7A1	http://identifiers.org/ncbigene/1294	1294	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2214	HGNC:2214	collagen type VII alpha 1 chain	This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201382	NANDO:2201382	COL7A1	http://identifiers.org/ncbigene/1294	1294	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2214	HGNC:2214	collagen type VII alpha 1 chain	This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201383	NANDO:2201383	COL7A1	http://identifiers.org/ncbigene/1294	1294	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2214	HGNC:2214	collagen type VII alpha 1 chain	This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201384	NANDO:2201384	COL7A1	http://identifiers.org/ncbigene/1294	1294	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2214	HGNC:2214	collagen type VII alpha 1 chain	This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201016	NANDO:2201016	COL9A1	http://identifiers.org/ncbigene/1297	1297	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2217	HGNC:2217	collagen type IX alpha 1 chain	This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201016	NANDO:2201016	COL9A2	http://identifiers.org/ncbigene/1298	1298	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2218	HGNC:2218	collagen type IX alpha 2 chain	This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200021	NANDO:1200021	COLQ	http://identifiers.org/ncbigene/8292	8292	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2226	HGNC:2226	collagen like tail subunit of asymmetric acetylcholinesterase	This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201018	NANDO:2201018	COMP	http://identifiers.org/ncbigene/1311	1311	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2227	HGNC:2227	cartilage oligomeric matrix protein	The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Contraction or expansion of a 5 aa aspartate repeat and other mutations can cause pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_1200542	NANDO:1200542	CP	http://identifiers.org/ncbigene/1356	1356	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2295	HGNC:2295	ceruloplasmin	The protein encoded by this gene is a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II)transferrin to Fe(III) transferrin. Mutations in this gene cause aceruloplasminemia, which results in iron accumulation and tissue damage, and is associated with diabetes and neurologic abnormalities. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]
http://nanbyodata.jp/ontology/NANDO_2200582	NANDO:2200582	CP	http://identifiers.org/ncbigene/1356	1356	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2295	HGNC:2295	ceruloplasmin	The protein encoded by this gene is a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II)transferrin to Fe(III) transferrin. Mutations in this gene cause aceruloplasminemia, which results in iron accumulation and tissue damage, and is associated with diabetes and neurologic abnormalities. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]
http://nanbyodata.jp/ontology/NANDO_1201112	NANDO:1201112	CPB2	http://identifiers.org/ncbigene/1361	1361	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2300	HGNC:2300	carboxypeptidase B2	Carboxypeptidases are enzymes that hydrolyze C-terminal peptide bonds. The carboxypeptidase family includes metallo-, serine, and cysteine carboxypeptidases. According to their substrate specificity, these enzymes are referred to as carboxypeptidase A (cleaving aliphatic residues) or carboxypeptidase B (cleaving basic amino residues). The protein encoded by this gene is activated by trypsin and acts on carboxypeptidase B substrates. After thrombin activation, the mature protein downregulates fibrinolysis. Polymorphisms have been described for this gene and its promoter region. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
http://nanbyodata.jp/ontology/NANDO_1201115	NANDO:1201115	CPB2	http://identifiers.org/ncbigene/1361	1361	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2300	HGNC:2300	carboxypeptidase B2	Carboxypeptidases are enzymes that hydrolyze C-terminal peptide bonds. The carboxypeptidase family includes metallo-, serine, and cysteine carboxypeptidases. According to their substrate specificity, these enzymes are referred to as carboxypeptidase A (cleaving aliphatic residues) or carboxypeptidase B (cleaving basic amino residues). The protein encoded by this gene is activated by trypsin and acts on carboxypeptidase B substrates. After thrombin activation, the mature protein downregulates fibrinolysis. Polymorphisms have been described for this gene and its promoter region. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	CPLANE1	http://identifiers.org/ncbigene/65250	65250	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25801	HGNC:25801	ciliogenesis and planar polarity effector 1	The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]
http://nanbyodata.jp/ontology/NANDO_1200811	NANDO:1200811	CPOX	http://identifiers.org/ncbigene/1371	1371	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2321	HGNC:2321	coproporphyrinogen oxidase	The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200813	NANDO:1200813	CPOX	http://identifiers.org/ncbigene/1371	1371	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2321	HGNC:2321	coproporphyrinogen oxidase	The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2200610	NANDO:2200610	CPOX	http://identifiers.org/ncbigene/1371	1371	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2321	HGNC:2321	coproporphyrinogen oxidase	The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2201264	NANDO:2201264	CPOX	http://identifiers.org/ncbigene/1371	1371	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2321	HGNC:2321	coproporphyrinogen oxidase	The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200802	NANDO:1200802	CPS1	http://identifiers.org/ncbigene/1373	1373	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2323	HGNC:2323	carbamoyl-phosphate synthase 1	The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_1200803	NANDO:1200803	CPS1	http://identifiers.org/ncbigene/1373	1373	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2323	HGNC:2323	carbamoyl-phosphate synthase 1	The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2200478	NANDO:2200478	CPS1	http://identifiers.org/ncbigene/1373	1373	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2323	HGNC:2323	carbamoyl-phosphate synthase 1	The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_1200969	NANDO:1200969	CPT1A	http://identifiers.org/ncbigene/1374	1374	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2328	HGNC:2328	carnitine palmitoyltransferase 1A	The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200970	NANDO:1200970	CPT1A	http://identifiers.org/ncbigene/1374	1374	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2328	HGNC:2328	carnitine palmitoyltransferase 1A	The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200509	NANDO:2200509	CPT1A	http://identifiers.org/ncbigene/1374	1374	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2328	HGNC:2328	carnitine palmitoyltransferase 1A	The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200969	NANDO:1200969	CPT2	http://identifiers.org/ncbigene/1376	1376	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2330	HGNC:2330	carnitine palmitoyltransferase 2	The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200971	NANDO:1200971	CPT2	http://identifiers.org/ncbigene/1376	1376	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2330	HGNC:2330	carnitine palmitoyltransferase 2	The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200510	NANDO:2200510	CPT2	http://identifiers.org/ncbigene/1376	1376	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2330	HGNC:2330	carnitine palmitoyltransferase 2	The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	CR2	http://identifiers.org/ncbigene/1380	1380	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2336	HGNC:2336	complement C3d receptor 2	This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200344	NANDO:1200344	CR2	http://identifiers.org/ncbigene/1380	1380	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2336	HGNC:2336	complement C3d receptor 2	This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2200717	NANDO:2200717	CR2	http://identifiers.org/ncbigene/1380	1380	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2336	HGNC:2336	complement C3d receptor 2	This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2200801	NANDO:2200801	CR2	http://identifiers.org/ncbigene/1380	1380	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2336	HGNC:2336	complement C3d receptor 2	This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200873	NANDO:1200873	CREB3L1	http://identifiers.org/ncbigene/90993	90993	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18856	HGNC:18856	cAMP responsive element binding protein 3 like 1	The protein encoded by this gene is normally found in the membrane of the endoplasmic reticulum (ER). However, upon stress to the ER, the encoded protein is cleaved and the released cytoplasmic transcription factor domain translocates to the nucleus. There it activates the transcription of target genes by binding to box-B elements. [provided by RefSeq, Jun 2013]
http://nanbyodata.jp/ontology/NANDO_1200461	NANDO:1200461	CREBBP	http://identifiers.org/ncbigene/1387	1387	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2348	HGNC:2348	CREB binding protein	This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_2200955	NANDO:2200955	CREBBP	http://identifiers.org/ncbigene/1387	1387	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2348	HGNC:2348	CREB binding protein	This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	CRPPA	http://identifiers.org/ncbigene/729920	729920	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:37276	HGNC:37276	CDP-L-ribitol pyrophosphorylase A	This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
http://nanbyodata.jp/ontology/NANDO_1200873	NANDO:1200873	CRTAP	http://identifiers.org/ncbigene/10491	10491	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2379	HGNC:2379	cartilage associated protein	The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201011	NANDO:2201011	CRTAP	http://identifiers.org/ncbigene/10491	10491	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2379	HGNC:2379	cartilage associated protein	The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200216	NANDO:1200216	CRYAB	http://identifiers.org/ncbigene/1410	1410	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2389	HGNC:2389	crystallin alpha B	Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2019]
http://nanbyodata.jp/ontology/NANDO_1200546	NANDO:1200546	CSF1R	http://identifiers.org/ncbigene/1436	1436	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2433	HGNC:2433	colony stimulating factor 1 receptor	The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. Expression of a splice variant from an LTR promoter has been found in Hodgkin lymphoma (HL), HL cell lines and anaplastic large cell lymphoma. [provided by RefSeq, Mar 2017]
http://nanbyodata.jp/ontology/NANDO_1200746	NANDO:1200746	CSF2	http://identifiers.org/ncbigene/1437	1437	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2434	HGNC:2434	colony stimulating factor 2	The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. The active form of the protein is found extracellularly as a homodimer. This gene has been localized to a cluster of related genes at chromosome region 5q31, which is known to be associated with interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. Other genes in the cluster include those encoding interleukins 4, 5, and 13. This gene plays a role in promoting tissue inflammation. Elevated levels of cytokines, including the one produced by this gene, have been detected in SARS-CoV-2 infected patients that develop acute respiratory distress syndrome. Mice deficient in this gene or its receptor develop pulmonary alveolar proteinosis. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_1200750	NANDO:1200750	CSF2	http://identifiers.org/ncbigene/1437	1437	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2434	HGNC:2434	colony stimulating factor 2	The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. The active form of the protein is found extracellularly as a homodimer. This gene has been localized to a cluster of related genes at chromosome region 5q31, which is known to be associated with interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. Other genes in the cluster include those encoding interleukins 4, 5, and 13. This gene plays a role in promoting tissue inflammation. Elevated levels of cytokines, including the one produced by this gene, have been detected in SARS-CoV-2 infected patients that develop acute respiratory distress syndrome. Mice deficient in this gene or its receptor develop pulmonary alveolar proteinosis. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_1200746	NANDO:1200746	CSF2RA	http://identifiers.org/ncbigene/1438	1438	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2435	HGNC:2435	colony stimulating factor 2 receptor subunit alpha	The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200200	NANDO:2200200	CSF2RA	http://identifiers.org/ncbigene/1438	1438	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2435	HGNC:2435	colony stimulating factor 2 receptor subunit alpha	The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200760	NANDO:2200760	CSF2RA	http://identifiers.org/ncbigene/1438	1438	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2435	HGNC:2435	colony stimulating factor 2 receptor subunit alpha	The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200746	NANDO:1200746	CSF2RB	http://identifiers.org/ncbigene/1439	1439	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2436	HGNC:2436	colony stimulating factor 2 receptor subunit beta	The protein encoded by this gene is the common beta chain of the high affinity receptor for IL-3, IL-5 and CSF. Defects in this gene have been reported to be associated with protein alveolar proteinosis (PAP). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200200	NANDO:2200200	CSF2RB	http://identifiers.org/ncbigene/1439	1439	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2436	HGNC:2436	colony stimulating factor 2 receptor subunit beta	The protein encoded by this gene is the common beta chain of the high affinity receptor for IL-3, IL-5 and CSF. Defects in this gene have been reported to be associated with protein alveolar proteinosis (PAP). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	CSF3R	http://identifiers.org/ncbigene/1441	1441	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2439	HGNC:2439	colony stimulating factor 3 receptor	The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_1200353	NANDO:1200353	CSF3R	http://identifiers.org/ncbigene/1441	1441	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2439	HGNC:2439	colony stimulating factor 3 receptor	The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_2200745	NANDO:2200745	CSF3R	http://identifiers.org/ncbigene/1441	1441	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2439	HGNC:2439	colony stimulating factor 3 receptor	The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	CSPP1	http://identifiers.org/ncbigene/79848	79848	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26193	HGNC:26193	centrosome and spindle pole associated protein 1	This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in this gene result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
http://nanbyodata.jp/ontology/NANDO_1200209	NANDO:1200209	CST3	http://identifiers.org/ncbigene/1471	1471	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2475	HGNC:2475	cystatin C	The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. In addition, this protein has been shown to have an antimicrobial function, inhibiting the replication of herpes simplex virus. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Nov 2014]
http://nanbyodata.jp/ontology/NANDO_1200213	NANDO:1200213	CST3	http://identifiers.org/ncbigene/1471	1471	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2475	HGNC:2475	cystatin C	The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. In addition, this protein has been shown to have an antimicrobial function, inhibiting the replication of herpes simplex virus. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Nov 2014]
http://nanbyodata.jp/ontology/NANDO_1200953	NANDO:1200953	CSTB	http://identifiers.org/ncbigene/1476	1476	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2482	HGNC:2482	cystatin B	The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). One type of mutation responsible for EPM1 is the expansion in the promoter region of this gene of a CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_1200954	NANDO:1200954	CSTB	http://identifiers.org/ncbigene/1476	1476	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2482	HGNC:2482	cystatin B	The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). One type of mutation responsible for EPM1 is the expansion in the promoter region of this gene of a CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2200880	NANDO:2200880	CSTB	http://identifiers.org/ncbigene/1476	1476	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2482	HGNC:2482	cystatin B	The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). One type of mutation responsible for EPM1 is the expansion in the promoter region of this gene of a CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_1200598	NANDO:1200598	CTLA4	http://identifiers.org/ncbigene/1493	1493	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2505	HGNC:2505	cytotoxic T-lymphocyte associated protein 4	This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200347	NANDO:2200347	CTLA4	http://identifiers.org/ncbigene/1493	1493	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2505	HGNC:2505	cytotoxic T-lymphocyte associated protein 4	This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200043	NANDO:2200043	CTNNB1	http://identifiers.org/ncbigene/1499	1499	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2514	HGNC:2514	catenin beta 1	The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon. Mutations in this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	CTNS	http://identifiers.org/ncbigene/1497	1497	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2518	HGNC:2518	cystinosin, lysosomal cystine transporter	This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
http://nanbyodata.jp/ontology/NANDO_1200161	NANDO:1200161	CTNS	http://identifiers.org/ncbigene/1497	1497	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2518	HGNC:2518	cystinosin, lysosomal cystine transporter	This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
http://nanbyodata.jp/ontology/NANDO_2200187	NANDO:2200187	CTNS	http://identifiers.org/ncbigene/1497	1497	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2518	HGNC:2518	cystinosin, lysosomal cystine transporter	This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
http://nanbyodata.jp/ontology/NANDO_2200571	NANDO:2200571	CTNS	http://identifiers.org/ncbigene/1497	1497	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2518	HGNC:2518	cystinosin, lysosomal cystine transporter	This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	CTSA	http://identifiers.org/ncbigene/5476	5476	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9251	HGNC:9251	cathepsin A	This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_1200119	NANDO:1200119	CTSA	http://identifiers.org/ncbigene/5476	5476	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9251	HGNC:9251	cathepsin A	This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_2200557	NANDO:2200557	CTSA	http://identifiers.org/ncbigene/5476	5476	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9251	HGNC:9251	cathepsin A	This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_2200573	NANDO:2200573	CTSD	http://identifiers.org/ncbigene/1509	1509	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2529	HGNC:2529	cathepsin D	This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_2201022	NANDO:2201022	CTSK	http://identifiers.org/ncbigene/1513	1513	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2536	HGNC:2536	cathepsin K	The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly expressed in osteoclasts. However, the encoded protein is also expressed in a significant fraction of human breast cancers, where it could contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and short stature. [provided by RefSeq, Apr 2013]
http://nanbyodata.jp/ontology/NANDO_2201023	NANDO:2201023	CTSK	http://identifiers.org/ncbigene/1513	1513	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2536	HGNC:2536	cathepsin K	The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly expressed in osteoclasts. However, the encoded protein is also expressed in a significant fraction of human breast cancers, where it could contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and short stature. [provided by RefSeq, Apr 2013]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	CXCR4	http://identifiers.org/ncbigene/7852	7852	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2561	HGNC:2561	C-X-C motif chemokine receptor 4	This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200747	NANDO:2200747	CXCR4	http://identifiers.org/ncbigene/7852	7852	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2561	HGNC:2561	C-X-C motif chemokine receptor 4	This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200765	NANDO:2200765	CXCR4	http://identifiers.org/ncbigene/7852	7852	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2561	HGNC:2561	C-X-C motif chemokine receptor 4	This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200767	NANDO:2200767	CXCR4	http://identifiers.org/ncbigene/7852	7852	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2561	HGNC:2561	C-X-C motif chemokine receptor 4	This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	CYBA	http://identifiers.org/ncbigene/1535	1535	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2577	HGNC:2577	cytochrome b-245 alpha chain	Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200357	NANDO:1200357	CYBA	http://identifiers.org/ncbigene/1535	1535	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2577	HGNC:2577	cytochrome b-245 alpha chain	Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200757	NANDO:2200757	CYBA	http://identifiers.org/ncbigene/1535	1535	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2577	HGNC:2577	cytochrome b-245 alpha chain	Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201280	NANDO:2201280	CYBA	http://identifiers.org/ncbigene/1535	1535	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2577	HGNC:2577	cytochrome b-245 alpha chain	Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	CYBB	http://identifiers.org/ncbigene/1536	1536	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2578	HGNC:2578	cytochrome b-245 beta chain	Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200357	NANDO:1200357	CYBB	http://identifiers.org/ncbigene/1536	1536	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2578	HGNC:2578	cytochrome b-245 beta chain	Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200359	NANDO:1200359	CYBB	http://identifiers.org/ncbigene/1536	1536	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2578	HGNC:2578	cytochrome b-245 beta chain	Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200757	NANDO:2200757	CYBB	http://identifiers.org/ncbigene/1536	1536	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2578	HGNC:2578	cytochrome b-245 beta chain	Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200759	NANDO:2200759	CYBB	http://identifiers.org/ncbigene/1536	1536	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2578	HGNC:2578	cytochrome b-245 beta chain	Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201279	NANDO:2201279	CYBB	http://identifiers.org/ncbigene/1536	1536	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2578	HGNC:2578	cytochrome b-245 beta chain	Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200396	NANDO:1200396	CYP11A1	http://identifiers.org/ncbigene/1583	1583	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2590	HGNC:2590	cytochrome P450 family 11 subfamily A member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200397	NANDO:1200397	CYP11A1	http://identifiers.org/ncbigene/1583	1583	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2590	HGNC:2590	cytochrome P450 family 11 subfamily A member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200370	NANDO:2200370	CYP11A1	http://identifiers.org/ncbigene/1583	1583	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2590	HGNC:2590	cytochrome P450 family 11 subfamily A member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200396	NANDO:1200396	CYP11B1	http://identifiers.org/ncbigene/1584	1584	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2591	HGNC:2591	cytochrome P450 family 11 subfamily B member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200400	NANDO:1200400	CYP11B1	http://identifiers.org/ncbigene/1584	1584	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2591	HGNC:2591	cytochrome P450 family 11 subfamily B member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200361	NANDO:2200361	CYP11B1	http://identifiers.org/ncbigene/1584	1584	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2591	HGNC:2591	cytochrome P450 family 11 subfamily B member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200372	NANDO:2200372	CYP11B1	http://identifiers.org/ncbigene/1584	1584	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2591	HGNC:2591	cytochrome P450 family 11 subfamily B member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200361	NANDO:2200361	CYP11B2	http://identifiers.org/ncbigene/1585	1585	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2592	HGNC:2592	cytochrome P450 family 11 subfamily B member 2	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200365	NANDO:2200365	CYP11B2	http://identifiers.org/ncbigene/1585	1585	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2592	HGNC:2592	cytochrome P450 family 11 subfamily B member 2	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200366	NANDO:2200366	CYP11B2	http://identifiers.org/ncbigene/1585	1585	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2592	HGNC:2592	cytochrome P450 family 11 subfamily B member 2	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200396	NANDO:1200396	CYP17A1	http://identifiers.org/ncbigene/1586	1586	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2593	HGNC:2593	cytochrome P450 family 17 subfamily A member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200401	NANDO:1200401	CYP17A1	http://identifiers.org/ncbigene/1586	1586	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2593	HGNC:2593	cytochrome P450 family 17 subfamily A member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200373	NANDO:2200373	CYP17A1	http://identifiers.org/ncbigene/1586	1586	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2593	HGNC:2593	cytochrome P450 family 17 subfamily A member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200379	NANDO:2200379	CYP19A1	http://identifiers.org/ncbigene/1588	1588	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2594	HGNC:2594	cytochrome P450 family 19 subfamily A member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_2200380	NANDO:2200380	CYP19A1	http://identifiers.org/ncbigene/1588	1588	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2594	HGNC:2594	cytochrome P450 family 19 subfamily A member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_1201000	NANDO:1201000	CYP1B1	http://identifiers.org/ncbigene/1545	1545	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2597	HGNC:2597	cytochrome P450 family 1 subfamily B member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200396	NANDO:1200396	CYP21A2	http://identifiers.org/ncbigene/1589	1589	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2600	HGNC:2600	cytochrome P450 family 21 subfamily A member 2	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200399	NANDO:1200399	CYP21A2	http://identifiers.org/ncbigene/1589	1589	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2600	HGNC:2600	cytochrome P450 family 21 subfamily A member 2	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200374	NANDO:2200374	CYP21A2	http://identifiers.org/ncbigene/1589	1589	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2600	HGNC:2600	cytochrome P450 family 21 subfamily A member 2	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200856	NANDO:1200856	CYP27A1	http://identifiers.org/ncbigene/1593	1593	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2605	HGNC:2605	cytochrome P450 family 27 subfamily A member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200506	NANDO:2200506	CYP27A1	http://identifiers.org/ncbigene/1593	1593	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2605	HGNC:2605	cytochrome P450 family 27 subfamily A member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200781	NANDO:1200781	CYP27B1	http://identifiers.org/ncbigene/1594	1594	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2606	HGNC:2606	cytochrome P450 family 27 subfamily B member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200782	NANDO:1200782	CYP27B1	http://identifiers.org/ncbigene/1594	1594	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2606	HGNC:2606	cytochrome P450 family 27 subfamily B member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201092	NANDO:1201092	CYP27B1	http://identifiers.org/ncbigene/1594	1594	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2606	HGNC:2606	cytochrome P450 family 27 subfamily B member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200401	NANDO:2200401	CYP27B1	http://identifiers.org/ncbigene/1594	1594	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2606	HGNC:2606	cytochrome P450 family 27 subfamily B member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200781	NANDO:1200781	CYP2R1	http://identifiers.org/ncbigene/120227	120227	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20580	HGNC:20580	cytochrome P450 family 2 subfamily R member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200782	NANDO:1200782	CYP2R1	http://identifiers.org/ncbigene/120227	120227	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20580	HGNC:20580	cytochrome P450 family 2 subfamily R member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201093	NANDO:1201093	CYP2R1	http://identifiers.org/ncbigene/120227	120227	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20580	HGNC:20580	cytochrome P450 family 2 subfamily R member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200781	NANDO:1200781	CYP3A4	http://identifiers.org/ncbigene/1576	1576	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2637	HGNC:2637	cytochrome P450 family 3 subfamily A member 4	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by glucocorticoids and some pharmacological agents. This enzyme is involved in the metabolism of approximately half the drugs in use today, including acetaminophen, codeine, cyclosporin A, diazepam, erythromycin, and chloroquine. The enzyme also metabolizes some steroids and carcinogens. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Previously another CYP3A gene, CYP3A3, was thought to exist; however, it is now thought that this sequence represents a transcript variant of CYP3A4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_1201094	NANDO:1201094	CYP3A4	http://identifiers.org/ncbigene/1576	1576	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2637	HGNC:2637	cytochrome P450 family 3 subfamily A member 4	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by glucocorticoids and some pharmacological agents. This enzyme is involved in the metabolism of approximately half the drugs in use today, including acetaminophen, codeine, cyclosporin A, diazepam, erythromycin, and chloroquine. The enzyme also metabolizes some steroids and carcinogens. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Previously another CYP3A gene, CYP3A3, was thought to exist; however, it is now thought that this sequence represents a transcript variant of CYP3A4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_1200609	NANDO:1200609	CYP4F22	http://identifiers.org/ncbigene/126410	126410	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26820	HGNC:26820	cytochrome P450 family 4 subfamily F member 22	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19 and encodes an enzyme thought to play a role in the 12(R)-lipoxygenase pathway. Mutations in this gene are the cause of ichthyosis lamellar type 3. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200991	NANDO:2200991	CYP4F22	http://identifiers.org/ncbigene/126410	126410	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26820	HGNC:26820	cytochrome P450 family 4 subfamily F member 22	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19 and encodes an enzyme thought to play a role in the 12(R)-lipoxygenase pathway. Mutations in this gene are the cause of ichthyosis lamellar type 3. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200506	NANDO:2200506	CYP7A1	http://identifiers.org/ncbigene/1581	1581	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2651	HGNC:2651	cytochrome P450 family 7 subfamily A member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2200506	NANDO:2200506	CYP7B1	http://identifiers.org/ncbigene/9420	9420	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2652	HGNC:2652	cytochrome P450 family 7 subfamily B member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	DAG1	http://identifiers.org/ncbigene/1605	1605	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2666	HGNC:2666	dystroglycan 1	This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing to generate alpha and beta subunits. Certain mutations in this gene are known to cause distinct forms of muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_2200597	NANDO:2200597	DBH	http://identifiers.org/ncbigene/1621	1621	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2689	HGNC:2689	dopamine beta-hydroxylase	The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. The encoded protein, expressed in neuroscretory vesicles and chromaffin granules of the adrenal medulla, catalyzes the conversion of dopamine to norepinephrine, which functions as both a hormone and as the main neurotransmitter of the sympathetic nervous system. The enzyme encoded by this gene exists exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. Mutations in this gene cause dopamine beta-hydroxylate deficiency in human patients, characterized by deficits in autonomic and cardiovascular function, including hypotension and ptosis. Polymorphisms in this gene may play a role in a variety of psychiatric disorders. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200758	NANDO:1200758	DBP	http://identifiers.org/ncbigene/1628	1628	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2697	HGNC:2697	D-box binding PAR bZIP transcription factor	The protein encoded by this gene is a member of the PAR bZIP transcription factor family and binds to specific sequences in the promoters of several genes, such as albumin, CYP2A4, and CYP2A5. The encoded protein can bind DNA as a homo- or heterodimer and is involved in the regulation of some circadian rhythm genes. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_1200764	NANDO:1200764	DBP	http://identifiers.org/ncbigene/1628	1628	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2697	HGNC:2697	D-box binding PAR bZIP transcription factor	The protein encoded by this gene is a member of the PAR bZIP transcription factor family and binds to specific sequences in the promoters of several genes, such as albumin, CYP2A4, and CYP2A5. The encoded protein can bind DNA as a homo- or heterodimer and is involved in the regulation of some circadian rhythm genes. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_1200766	NANDO:1200766	DBP	http://identifiers.org/ncbigene/1628	1628	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2697	HGNC:2697	D-box binding PAR bZIP transcription factor	The protein encoded by this gene is a member of the PAR bZIP transcription factor family and binds to specific sequences in the promoters of several genes, such as albumin, CYP2A4, and CYP2A5. The encoded protein can bind DNA as a homo- or heterodimer and is involved in the regulation of some circadian rhythm genes. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_2200473	NANDO:2200473	DBT	http://identifiers.org/ncbigene/1629	1629	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2698	HGNC:2698	dihydrolipoamide branched chain transacylase E2	The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200542	NANDO:1200542	DCAF17	http://identifiers.org/ncbigene/80067	80067	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25784	HGNC:25784	DDB1 and CUL4 associated factor 17	This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	DCDC2	http://identifiers.org/ncbigene/51473	51473	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18141	HGNC:18141	doublecortin domain containing 2	This gene encodes a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. This family member is thought to function in neuronal migration where it may affect the signaling of primary cilia. Mutations in this gene have been associated with reading disability (RD) type 2, also referred to as developmental dyslexia. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2013]
http://nanbyodata.jp/ontology/NANDO_2200697	NANDO:2200697	DCLRE1C	http://identifiers.org/ncbigene/64421	64421	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17642	HGNC:17642	DNA cross-link repair 1C	This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	DCTN1	http://identifiers.org/ncbigene/1639	1639	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2711	HGNC:2711	dynactin subunit 1	This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200547	NANDO:1200547	DCTN1	http://identifiers.org/ncbigene/1639	1639	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2711	HGNC:2711	dynactin subunit 1	This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200574	NANDO:1200574	DCX	http://identifiers.org/ncbigene/1641	1641	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2714	HGNC:2714	doublecortin	"This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The encoded protein appears to direct neuronal migration by regulating the organization and stability of microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase, and this interaction is important to proper microtubule function in the developing cortex. Mutations in this gene cause abnormal migration of neurons during development and disrupt the layering of the cortex, leading to epilepsy, cognitive disability, subcortical band heterotopia (""double cortex"" syndrome) in females and lissencephaly (""smooth brain"" syndrome) in males. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]"
http://nanbyodata.jp/ontology/NANDO_2200817	NANDO:2200817	DCX	http://identifiers.org/ncbigene/1641	1641	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2714	HGNC:2714	doublecortin	"This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The encoded protein appears to direct neuronal migration by regulating the organization and stability of microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase, and this interaction is important to proper microtubule function in the developing cortex. Mutations in this gene cause abnormal migration of neurons during development and disrupt the layering of the cortex, leading to epilepsy, cognitive disability, subcortical band heterotopia (""double cortex"" syndrome) in females and lissencephaly (""smooth brain"" syndrome) in males. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]"
http://nanbyodata.jp/ontology/NANDO_1200608	NANDO:1200608	DDB2	http://identifiers.org/ncbigene/1643	1643	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2718	HGNC:2718	damage specific DNA binding protein 2	This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_2201002	NANDO:2201002	DDB2	http://identifiers.org/ncbigene/1643	1643	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2718	HGNC:2718	damage specific DNA binding protein 2	This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_1200988	NANDO:1200988	DDC	http://identifiers.org/ncbigene/1644	1644	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2719	HGNC:2719	dopa decarboxylase	error
http://nanbyodata.jp/ontology/NANDO_2200596	NANDO:2200596	DDC	http://identifiers.org/ncbigene/1644	1644	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2719	HGNC:2719	dopa decarboxylase	error
http://nanbyodata.jp/ontology/NANDO_2200065	NANDO:2200065	DDIT3	http://identifiers.org/ncbigene/1649	1649	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2726	HGNC:2726	DNA damage inducible transcript 3	This gene encodes a member of the CCAAT/enhancer-binding protein (C/EBP) family of transcription factors. The protein functions as a dominant-negative inhibitor by forming heterodimers with other C/EBP members, such as C/EBP and LAP (liver activator protein), and preventing their DNA binding activity. The protein is implicated in adipogenesis and erythropoiesis, is activated by endoplasmic reticulum stress, and promotes apoptosis. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in myxoid liposarcomas or Ewing sarcoma. Multiple alternatively spliced transcript variants encoding two isoforms with different length have been identified. [provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_2201395	NANDO:2201395	DDX3X	http://identifiers.org/ncbigene/1654	1654	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2745	HGNC:2745	DEAD-box helicase 3 X-linked	The protein encoded by this gene is a member of the large DEAD-box protein family, that is defined by the presence of the conserved Asp-Glu-Ala-Asp (DEAD) motif, and has ATP-dependent RNA helicase activity. This protein has been reported to display a high level of RNA-independent ATPase activity, and unlike most DEAD-box helicases, the ATPase activity is thought to be stimulated by both RNA and DNA. This protein has multiple conserved domains and is thought to play roles in both the nucleus and cytoplasm. Nuclear roles include transcriptional regulation, mRNP assembly, pre-mRNA splicing, and mRNA export. In the cytoplasm, this protein is thought to be involved in translation, cellular signaling, and viral replication. Misregulation of this gene has been implicated in tumorigenesis. This gene has a paralog located in the nonrecombining region of the Y chromosome. Pseudogenes sharing similarity to both this gene and the DDX3Y paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
http://nanbyodata.jp/ontology/NANDO_2200004	NANDO:2200004	DEK	http://identifiers.org/ncbigene/7913	7913	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2768	HGNC:2768	DEK proto-oncogene	This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
http://nanbyodata.jp/ontology/NANDO_2200005	NANDO:2200005	DEK	http://identifiers.org/ncbigene/7913	7913	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2768	HGNC:2768	DEK proto-oncogene	This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
http://nanbyodata.jp/ontology/NANDO_2200006	NANDO:2200006	DEK	http://identifiers.org/ncbigene/7913	7913	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2768	HGNC:2768	DEK proto-oncogene	This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
http://nanbyodata.jp/ontology/NANDO_2200007	NANDO:2200007	DEK	http://identifiers.org/ncbigene/7913	7913	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2768	HGNC:2768	DEK proto-oncogene	This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
http://nanbyodata.jp/ontology/NANDO_2200008	NANDO:2200008	DEK	http://identifiers.org/ncbigene/7913	7913	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2768	HGNC:2768	DEK proto-oncogene	This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
http://nanbyodata.jp/ontology/NANDO_2200009	NANDO:2200009	DEK	http://identifiers.org/ncbigene/7913	7913	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2768	HGNC:2768	DEK proto-oncogene	This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
http://nanbyodata.jp/ontology/NANDO_2200010	NANDO:2200010	DEK	http://identifiers.org/ncbigene/7913	7913	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2768	HGNC:2768	DEK proto-oncogene	This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
http://nanbyodata.jp/ontology/NANDO_2200011	NANDO:2200011	DEK	http://identifiers.org/ncbigene/7913	7913	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2768	HGNC:2768	DEK proto-oncogene	This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
http://nanbyodata.jp/ontology/NANDO_2200019	NANDO:2200019	DEK	http://identifiers.org/ncbigene/7913	7913	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2768	HGNC:2768	DEK proto-oncogene	This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
http://nanbyodata.jp/ontology/NANDO_2201498	NANDO:2201498	DEPDC5	http://identifiers.org/ncbigene/9681	9681	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18423	HGNC:18423	DEP domain containing 5, GATOR1 subcomplex subunit	This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
http://nanbyodata.jp/ontology/NANDO_1200032	NANDO:1200032	DES	http://identifiers.org/ncbigene/1674	1674	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2770	HGNC:2770	desmin	This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200216	NANDO:1200216	DES	http://identifiers.org/ncbigene/1674	1674	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2770	HGNC:2770	desmin	This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	DES	http://identifiers.org/ncbigene/1674	1674	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2770	HGNC:2770	desmin	This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200233	NANDO:2200233	DES	http://identifiers.org/ncbigene/1674	1674	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2770	HGNC:2770	desmin	This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200473	NANDO:1200473	DGKE	http://identifiers.org/ncbigene/8526	8526	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2852	HGNC:2852	diacylglycerol kinase epsilon	Diacylglycerol kinases are thought to be involved mainly in the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction.  When expressed in mammalian cells, DGK-epsilon shows specificity for arachidonyl-containing diacylglycerol. DGK-epsilon is expressed predominantly in testis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200523	NANDO:2200523	DGUOK	http://identifiers.org/ncbigene/1716	1716	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2858	HGNC:2858	deoxyguanosine kinase	In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kinase. The protein encoded by this gene is responsible for phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix. In addition, this protein phosphorylates several purine deoxyribonucleoside analogs used in the treatment of lymphoproliferative disorders, and this phosphorylation is critical for the effectiveness of the analogs. Alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200957	NANDO:1200957	DHCR7	http://identifiers.org/ncbigene/1717	1717	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2860	HGNC:2860	7-dehydrocholesterol reductase	This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_1200961	NANDO:1200961	DHCR7	http://identifiers.org/ncbigene/1717	1717	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2860	HGNC:2860	7-dehydrocholesterol reductase	This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_2200392	NANDO:2200392	DHCR7	http://identifiers.org/ncbigene/1717	1717	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2860	HGNC:2860	7-dehydrocholesterol reductase	This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_2200979	NANDO:2200979	DHCR7	http://identifiers.org/ncbigene/1717	1717	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2860	HGNC:2860	7-dehydrocholesterol reductase	This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	DHH	http://identifiers.org/ncbigene/50846	50846	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2865	HGNC:2865	desert hedgehog signaling molecule	This gene encodes a member of the hedgehog family. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the organism. Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development. [provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2200383	NANDO:2200383	DHH	http://identifiers.org/ncbigene/50846	50846	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2865	HGNC:2865	desert hedgehog signaling molecule	This gene encodes a member of the hedgehog family. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the organism. Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development. [provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2200392	NANDO:2200392	DHH	http://identifiers.org/ncbigene/50846	50846	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2865	HGNC:2865	desert hedgehog signaling molecule	This gene encodes a member of the hedgehog family. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the organism. Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development. [provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	DHTKD1	http://identifiers.org/ncbigene/55526	55526	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23537	HGNC:23537	dehydrogenase E1 and transketolase domain containing 1	This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013]
http://nanbyodata.jp/ontology/NANDO_2200080	NANDO:2200080	DICER1	http://identifiers.org/ncbigene/23405	23405	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17098	HGNC:17098	dicer 1, ribonuclease III	This gene encodes a protein possessing an RNA helicase motif containing a DEXH box in its amino terminus and an RNA motif in the carboxy terminus. The encoded protein functions as a ribonuclease and is required by the RNA interference and small temporal RNA (stRNA) pathways to produce the active small RNA component that represses gene expression. This protein also acts as a strong antiviral agent with activity against RNA viruses, including the Zika and SARS-CoV-2 viruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2021]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	DKC1	http://identifiers.org/ncbigene/1736	1736	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2890	HGNC:2890	dyskerin pseudouridine synthase 1	This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
http://nanbyodata.jp/ontology/NANDO_1200342	NANDO:1200342	DKC1	http://identifiers.org/ncbigene/1736	1736	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2890	HGNC:2890	dyskerin pseudouridine synthase 1	This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
http://nanbyodata.jp/ontology/NANDO_2200715	NANDO:2200715	DKC1	http://identifiers.org/ncbigene/1736	1736	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2890	HGNC:2890	dyskerin pseudouridine synthase 1	This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
http://nanbyodata.jp/ontology/NANDO_2200518	NANDO:2200518	DLAT	http://identifiers.org/ncbigene/1737	1737	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2896	HGNC:2896	dihydrolipoamide S-acetyltransferase	This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2200473	NANDO:2200473	DLD	http://identifiers.org/ncbigene/1738	1738	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2898	HGNC:2898	dihydrolipoamide dehydrogenase	This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
http://nanbyodata.jp/ontology/NANDO_2200476	NANDO:2200476	DLD	http://identifiers.org/ncbigene/1738	1738	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2898	HGNC:2898	dihydrolipoamide dehydrogenase	This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
http://nanbyodata.jp/ontology/NANDO_2200518	NANDO:2200518	DLD	http://identifiers.org/ncbigene/1738	1738	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2898	HGNC:2898	dihydrolipoamide dehydrogenase	This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
http://nanbyodata.jp/ontology/NANDO_1200380	NANDO:1200380	DLK1	http://identifiers.org/ncbigene/8788	8788	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2907	HGNC:2907	delta like non-canonical Notch ligand 1	This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of several cell types including adipocytes. This gene is located in a region of chromosome 14 frequently showing unparental disomy, and is imprinted and expressed from the paternal allele. A single nucleotide variant in this gene is associated with child and adolescent obesity and shows polar overdominance, where heterozygotes carrying an active paternal allele express the phenotype, while mutant homozygotes are normal. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_1200381	NANDO:1200381	DLK1	http://identifiers.org/ncbigene/8788	8788	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2907	HGNC:2907	delta like non-canonical Notch ligand 1	This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of several cell types including adipocytes. This gene is located in a region of chromosome 14 frequently showing unparental disomy, and is imprinted and expressed from the paternal allele. A single nucleotide variant in this gene is associated with child and adolescent obesity and shows polar overdominance, where heterozygotes carrying an active paternal allele express the phenotype, while mutant homozygotes are normal. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_2200377	NANDO:2200377	DLK1	http://identifiers.org/ncbigene/8788	8788	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2907	HGNC:2907	delta like non-canonical Notch ligand 1	This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of several cell types including adipocytes. This gene is located in a region of chromosome 14 frequently showing unparental disomy, and is imprinted and expressed from the paternal allele. A single nucleotide variant in this gene is associated with child and adolescent obesity and shows polar overdominance, where heterozygotes carrying an active paternal allele express the phenotype, while mutant homozygotes are normal. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_1200285	NANDO:1200285	DMD	http://identifiers.org/ncbigene/1756	1756	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2928	HGNC:2928	dystrophin	This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	DMD	http://identifiers.org/ncbigene/1756	1756	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2928	HGNC:2928	dystrophin	This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_2200856	NANDO:2200856	DMD	http://identifiers.org/ncbigene/1756	1756	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2928	HGNC:2928	dystrophin	This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	DMD	http://identifiers.org/ncbigene/1756	1756	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2928	HGNC:2928	dystrophin	This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_2200865	NANDO:2200865	DMD	http://identifiers.org/ncbigene/1756	1756	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2928	HGNC:2928	dystrophin	This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_2200403	NANDO:2200403	DMP1	http://identifiers.org/ncbigene/1758	1758	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2932	HGNC:2932	dentin matrix acidic phosphoprotein 1	Dentin matrix acidic phosphoprotein is an extracellular matrix protein and a member of the small integrin binding ligand N-linked glycoprotein family. This protein, which is critical for proper mineralization of bone and dentin, is present in diverse cells of bone and tooth tissues. The protein contains a large number of acidic domains, multiple phosphorylation sites, a functional arg-gly-asp cell attachment sequence, and a DNA binding domain. In undifferentiated osteoblasts it is primarily a nuclear protein that regulates the expression of osteoblast-specific genes. During osteoblast maturation the protein becomes phosphorylated and is exported to the extracellular matrix, where it orchestrates mineralized matrix formation. Mutations in the gene are known to cause autosomal recessive hypophosphatemia, a disease that manifests as rickets and osteomalacia. The gene structure is conserved in mammals. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	DMPK	http://identifiers.org/ncbigene/1760	1760	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2933	HGNC:2933	DM1 protein kinase	The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-38 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	DMPK	http://identifiers.org/ncbigene/1760	1760	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2933	HGNC:2933	DM1 protein kinase	The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-38 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2200864	NANDO:2200864	DMPK	http://identifiers.org/ncbigene/1760	1760	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2933	HGNC:2933	DM1 protein kinase	The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-38 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2200383	NANDO:2200383	DMRT1	http://identifiers.org/ncbigene/1761	1761	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2934	HGNC:2934	doublesex and mab-3 related transcription factor 1	This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200392	NANDO:2200392	DMRT1	http://identifiers.org/ncbigene/1761	1761	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2934	HGNC:2934	doublesex and mab-3 related transcription factor 1	This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	DNAAF1	http://identifiers.org/ncbigene/123872	123872	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30539	HGNC:30539	dynein axonemal assembly factor 1	The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	DNAAF11	http://identifiers.org/ncbigene/23639	23639	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16725	HGNC:16725	dynein axonemal assembly factor 11	The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	DNAAF19	http://identifiers.org/ncbigene/388389	388389	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:32700	HGNC:32700	coiled-coil domain containing 103	This gene encodes a protein that contains a coiled-coil domain. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	DNAAF2	http://identifiers.org/ncbigene/55172	55172	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20188	HGNC:20188	dynein axonemal assembly factor 2	This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in this gene have been associated with primary ciliary dyskinesia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2200203	NANDO:2200203	DNAAF2	http://identifiers.org/ncbigene/55172	55172	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20188	HGNC:20188	dynein axonemal assembly factor 2	This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in this gene have been associated with primary ciliary dyskinesia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	DNAAF3	http://identifiers.org/ncbigene/352909	352909	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30492	HGNC:30492	dynein axonemal assembly factor 3	The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	DNAAF4	http://identifiers.org/ncbigene/161582	161582	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21493	HGNC:21493	dynein axonemal assembly factor 4	This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	DNAAF5	http://identifiers.org/ncbigene/54919	54919	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26013	HGNC:26013	dynein axonemal assembly factor 5	The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	DNAH1	http://identifiers.org/ncbigene/25981	25981	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2940	HGNC:2940	dynein axonemal heavy chain 1	This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [provided by RefSeq, Feb 2017]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	DNAH11	http://identifiers.org/ncbigene/8701	8701	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2942	HGNC:2942	dynein axonemal heavy chain 11	This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]
http://nanbyodata.jp/ontology/NANDO_2200203	NANDO:2200203	DNAH11	http://identifiers.org/ncbigene/8701	8701	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2942	HGNC:2942	dynein axonemal heavy chain 11	This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	DNAH5	http://identifiers.org/ncbigene/1767	1767	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2950	HGNC:2950	dynein axonemal heavy chain 5	This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2200203	NANDO:2200203	DNAH5	http://identifiers.org/ncbigene/1767	1767	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2950	HGNC:2950	dynein axonemal heavy chain 5	This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	DNAH8	http://identifiers.org/ncbigene/1769	1769	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2952	HGNC:2952	dynein axonemal heavy chain 8	The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. [provided by RefSeq, Jan 2012]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	DNAH9	http://identifiers.org/ncbigene/1770	1770	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2953	HGNC:2953	dynein axonemal heavy chain 9	This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	DNAI1	http://identifiers.org/ncbigene/27019	27019	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2954	HGNC:2954	dynein axonemal intermediate chain 1	This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_2200203	NANDO:2200203	DNAI1	http://identifiers.org/ncbigene/27019	27019	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2954	HGNC:2954	dynein axonemal intermediate chain 1	This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	DNAI2	http://identifiers.org/ncbigene/64446	64446	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18744	HGNC:18744	dynein axonemal intermediate chain 2	The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200203	NANDO:2200203	DNAI2	http://identifiers.org/ncbigene/64446	64446	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18744	HGNC:18744	dynein axonemal intermediate chain 2	The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	DNAJB13	http://identifiers.org/ncbigene/374407	374407	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30718	HGNC:30718	DnaJ heat shock protein family (Hsp40) member B13	This gene encodes a member of the heat shock protein 40 co-chaperone family which is produced in large amounts in the testis and is located on the radial spokes of the axoneme in human sperm flagella and other flagellar structures. The encoded protein associates with the sperm annulus, as part of the septin complex, through direct interaction with septin 4, during sperm terminal differentiation. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and male infertility. [provided by RefSeq, Apr 2017]
http://nanbyodata.jp/ontology/NANDO_2200496	NANDO:2200496	DNAJC19	http://identifiers.org/ncbigene/131118	131118	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30528	HGNC:30528	DnaJ heat shock protein family (Hsp40) member C19	The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutaconic aciduria type 5 (MGA5), also known as dilated cardiomyopathy with ataxia (DCMA). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 2, 6, 10, 14 and 19. [provided by RefSeq, Jan 2012]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	DNAL1	http://identifiers.org/ncbigene/83544	83544	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23247	HGNC:23247	dynein axonemal light chain 1	This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]
http://nanbyodata.jp/ontology/NANDO_1200591	NANDO:1200591	DNM1	http://identifiers.org/ncbigene/1759	1759	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2972	HGNC:2972	dynamin 1	This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	DNM2	http://identifiers.org/ncbigene/1785	1785	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2974	HGNC:2974	dynamin 2	Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_1200477	NANDO:1200477	DNM2	http://identifiers.org/ncbigene/1785	1785	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2974	HGNC:2974	dynamin 2	Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_1200481	NANDO:1200481	DNM2	http://identifiers.org/ncbigene/1785	1785	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2974	HGNC:2974	dynamin 2	Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_1200482	NANDO:1200482	DNM2	http://identifiers.org/ncbigene/1785	1785	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2974	HGNC:2974	dynamin 2	Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	DNM2	http://identifiers.org/ncbigene/1785	1785	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2974	HGNC:2974	dynamin 2	Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_2200867	NANDO:2200867	DNM2	http://identifiers.org/ncbigene/1785	1785	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2974	HGNC:2974	dynamin 2	Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	DNMT1	http://identifiers.org/ncbigene/1786	1786	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2976	HGNC:2976	DNA methyltransferase 1	This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	DNMT3B	http://identifiers.org/ncbigene/1789	1789	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2979	HGNC:2979	DNA methyltransferase 3 beta	CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]
http://nanbyodata.jp/ontology/NANDO_1200334	NANDO:1200334	DNMT3B	http://identifiers.org/ncbigene/1789	1789	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2979	HGNC:2979	DNA methyltransferase 3 beta	CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]
http://nanbyodata.jp/ontology/NANDO_2200708	NANDO:2200708	DNMT3B	http://identifiers.org/ncbigene/1789	1789	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2979	HGNC:2979	DNA methyltransferase 3 beta	CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]
http://nanbyodata.jp/ontology/NANDO_2200713	NANDO:2200713	DOCK8	http://identifiers.org/ncbigene/81704	81704	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19191	HGNC:19191	dedicator of cytokinesis 8	This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_1200021	NANDO:1200021	DOK7	http://identifiers.org/ncbigene/285489	285489	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26594	HGNC:26594	docking protein 7	The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	DOLK	http://identifiers.org/ncbigene/22845	22845	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23406	HGNC:23406	dolichol kinase	The protein encoded by this gene catalyzes the CTP-mediated phosphorylation of dolichol, and is involved in the synthesis of Dol-P-Man, which is an essential glycosyl carrier lipid for C- and O-mannosylation, N- and O-linked glycosylation of proteins, and for the biosynthesis of glycosyl phosphatidylinositol anchors in endoplasmic reticulum. Mutations in this gene are associated with dolichol kinase deficiency.[provided by RefSeq, Apr 2010]
http://nanbyodata.jp/ontology/NANDO_1200021	NANDO:1200021	DPAGT1	http://identifiers.org/ncbigene/1798	1798	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2995	HGNC:2995	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	DPM1	http://identifiers.org/ncbigene/8813	8813	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3005	HGNC:3005	dolichyl-phosphate mannosyltransferase subunit 1, catalytic	Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. Mutations in this gene are associated with congenital disorder of glycosylation type Ie. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	DPM2	http://identifiers.org/ncbigene/8818	8818	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3006	HGNC:3006	dolichyl-phosphate mannosyltransferase subunit 2, regulatory	Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C terminus. This protein associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1 and also enhances the binding of dolichol-phosphate to DPM1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	DPM3	http://identifiers.org/ncbigene/54344	54344	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3007	HGNC:3007	dolichyl-phosphate mannosyltransferase subunit 3, regulatory	Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200227	NANDO:2200227	DPP6	http://identifiers.org/ncbigene/1804	1804	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3010	HGNC:3010	dipeptidyl peptidase like 6	This gene encodes a single-pass type II membrane protein that is a member of the peptidase S9B family of serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Variations in this gene may be associated with susceptibility to amyotrophic lateral sclerosis and with idiopathic ventricular fibrillation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	DRC1	http://identifiers.org/ncbigene/92749	92749	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24245	HGNC:24245	dynein regulatory complex subunit 1	This gene encodes a central component of the nexin-dynein complex (N-DRC), which regulates the assembly of ciliary dynein. Mutations in this gene can cause ciliary dyskinesia. [provided by RefSeq, Aug 2015]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	DRC2	http://identifiers.org/ncbigene/85478	85478	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29937	HGNC:29937	coiled-coil domain containing 65	This gene encodes a sperm tail protein that is highly expressed in adult testis, spermatocytes and spermatids. The protein plays a critical role in the assembly of the nexin-dynein regulatory complex. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	DRC4	http://identifiers.org/ncbigene/2622	2622	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4166	HGNC:4166	growth arrest specific 8	This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
http://nanbyodata.jp/ontology/NANDO_1200645	NANDO:1200645	DSE	http://identifiers.org/ncbigene/29940	29940	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21144	HGNC:21144	dermatan sulfate epimerase	The protein encoded by this gene is a tumor-rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D-glucuronic acid to L-iduronic acid during the biosynthesis of dermatan sulfate. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. Mutations in this gene cause inmusculocontractural Ehlers-Danlos syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 9, and a paralogous gene exists on chromosome 18. [provided by RefSeq, Apr 2016]
http://nanbyodata.jp/ontology/NANDO_1201089	NANDO:1201089	DSE	http://identifiers.org/ncbigene/29940	29940	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21144	HGNC:21144	dermatan sulfate epimerase	The protein encoded by this gene is a tumor-rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D-glucuronic acid to L-iduronic acid during the biosynthesis of dermatan sulfate. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. Mutations in this gene cause inmusculocontractural Ehlers-Danlos syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 9, and a paralogous gene exists on chromosome 18. [provided by RefSeq, Apr 2016]
http://nanbyodata.jp/ontology/NANDO_1200637	NANDO:1200637	DTNBP1	http://identifiers.org/ncbigene/84062	84062	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17328	HGNC:17328	dystrobrevin binding protein 1	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200638	NANDO:1200638	DTNBP1	http://identifiers.org/ncbigene/84062	84062	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17328	HGNC:17328	dystrobrevin binding protein 1	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200986	NANDO:2200986	DTNBP1	http://identifiers.org/ncbigene/84062	84062	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17328	HGNC:17328	dystrobrevin binding protein 1	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200334	NANDO:2200334	DUOX2	http://identifiers.org/ncbigene/50506	50506	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13273	HGNC:13273	dual oxidase 2	The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes this encoded protein and DUOX1. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	DUX4	http://identifiers.org/ncbigene/100288687	100288687	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:50800	HGNC:50800	double homeobox 4	This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length; a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1; GeneID 5307). Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
http://nanbyodata.jp/ontology/NANDO_2200859	NANDO:2200859	DUX4	http://identifiers.org/ncbigene/100288687	100288687	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:50800	HGNC:50800	double homeobox 4	This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length; a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1; GeneID 5307). Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	DYNC1H1	http://identifiers.org/ncbigene/1778	1778	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2961	HGNC:2961	dynein cytoplasmic 1 heavy chain 1	Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200216	NANDO:1200216	DYSF	http://identifiers.org/ncbigene/8291	8291	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3097	HGNC:3097	dysferlin	The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]
http://nanbyodata.jp/ontology/NANDO_1200217	NANDO:1200217	DYSF	http://identifiers.org/ncbigene/8291	8291	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3097	HGNC:3097	dysferlin	The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	DYSF	http://identifiers.org/ncbigene/8291	8291	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3097	HGNC:3097	dysferlin	The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]
http://nanbyodata.jp/ontology/NANDO_1200609	NANDO:1200609	EBP	http://identifiers.org/ncbigene/10682	10682	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3133	HGNC:3133	EBP cholestenol delta-isomerase	The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201017	NANDO:2201017	EBP	http://identifiers.org/ncbigene/10682	10682	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3133	HGNC:3133	EBP cholestenol delta-isomerase	The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201357	NANDO:2201357	EBP	http://identifiers.org/ncbigene/10682	10682	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3133	HGNC:3133	EBP cholestenol delta-isomerase	The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200608	NANDO:2200608	ECM1	http://identifiers.org/ncbigene/1893	1893	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3153	HGNC:3153	extracellular matrix protein 1	This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_2201005	NANDO:2201005	EDA	http://identifiers.org/ncbigene/1896	1896	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3157	HGNC:3157	ectodysplasin A	The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201005	NANDO:2201005	EDAR	http://identifiers.org/ncbigene/10913	10913	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2895	HGNC:2895	ectodysplasin A receptor	This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201005	NANDO:2201005	EDARADD	http://identifiers.org/ncbigene/128178	128178	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14341	HGNC:14341	EDAR associated death domain	This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	EGR2	http://identifiers.org/ncbigene/1959	1959	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3239	HGNC:3239	early growth response 2	The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200957	NANDO:1200957	EHMT1	http://identifiers.org/ncbigene/79813	79813	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24650	HGNC:24650	euchromatic histone lysine methyltransferase 1	The protein encoded by this gene is a histone methyltransferase that methylates the lysine-9 position of histone H3. This action marks the genomic region packaged with these methylated histones for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200959	NANDO:1200959	EHMT1	http://identifiers.org/ncbigene/79813	79813	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24650	HGNC:24650	euchromatic histone lysine methyltransferase 1	The protein encoded by this gene is a histone methyltransferase that methylates the lysine-9 position of histone H3. This action marks the genomic region packaged with these methylated histones for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1201022	NANDO:1201022	EHMT1	http://identifiers.org/ncbigene/79813	79813	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24650	HGNC:24650	euchromatic histone lysine methyltransferase 1	The protein encoded by this gene is a histone methyltransferase that methylates the lysine-9 position of histone H3. This action marks the genomic region packaged with these methylated histones for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200463	NANDO:2200463	EIF2AK3	http://identifiers.org/ncbigene/9451	9451	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3255	HGNC:3255	eukaryotic translation initiation factor 2 alpha kinase 3	The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Sep 2015]
http://nanbyodata.jp/ontology/NANDO_2201435	NANDO:2201435	EIF2AK3	http://identifiers.org/ncbigene/9451	9451	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3255	HGNC:3255	eukaryotic translation initiation factor 2 alpha kinase 3	The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Sep 2015]
http://nanbyodata.jp/ontology/NANDO_1200949	NANDO:1200949	EIF2B1	http://identifiers.org/ncbigene/1967	1967	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3257	HGNC:3257	eukaryotic translation initiation factor 2B subunit alpha	This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200951	NANDO:1200951	EIF2B1	http://identifiers.org/ncbigene/1967	1967	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3257	HGNC:3257	eukaryotic translation initiation factor 2B subunit alpha	This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2200838	NANDO:2200838	EIF2B1	http://identifiers.org/ncbigene/1967	1967	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3257	HGNC:3257	eukaryotic translation initiation factor 2B subunit alpha	This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200949	NANDO:1200949	EIF2B2	http://identifiers.org/ncbigene/8892	8892	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3258	HGNC:3258	eukaryotic translation initiation factor 2B subunit beta	This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_1200951	NANDO:1200951	EIF2B2	http://identifiers.org/ncbigene/8892	8892	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3258	HGNC:3258	eukaryotic translation initiation factor 2B subunit beta	This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_2200838	NANDO:2200838	EIF2B2	http://identifiers.org/ncbigene/8892	8892	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3258	HGNC:3258	eukaryotic translation initiation factor 2B subunit beta	This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_1200949	NANDO:1200949	EIF2B3	http://identifiers.org/ncbigene/8891	8891	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3259	HGNC:3259	eukaryotic translation initiation factor 2B subunit gamma	The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200951	NANDO:1200951	EIF2B3	http://identifiers.org/ncbigene/8891	8891	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3259	HGNC:3259	eukaryotic translation initiation factor 2B subunit gamma	The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2200838	NANDO:2200838	EIF2B3	http://identifiers.org/ncbigene/8891	8891	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3259	HGNC:3259	eukaryotic translation initiation factor 2B subunit gamma	The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200949	NANDO:1200949	EIF2B4	http://identifiers.org/ncbigene/8890	8890	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3260	HGNC:3260	eukaryotic translation initiation factor 2B subunit delta	Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200951	NANDO:1200951	EIF2B4	http://identifiers.org/ncbigene/8890	8890	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3260	HGNC:3260	eukaryotic translation initiation factor 2B subunit delta	Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200838	NANDO:2200838	EIF2B4	http://identifiers.org/ncbigene/8890	8890	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3260	HGNC:3260	eukaryotic translation initiation factor 2B subunit delta	Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200949	NANDO:1200949	EIF2B5	http://identifiers.org/ncbigene/8893	8893	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3261	HGNC:3261	eukaryotic translation initiation factor 2B subunit epsilon	This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_1200951	NANDO:1200951	EIF2B5	http://identifiers.org/ncbigene/8893	8893	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3261	HGNC:3261	eukaryotic translation initiation factor 2B subunit epsilon	This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_2200838	NANDO:2200838	EIF2B5	http://identifiers.org/ncbigene/8893	8893	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3261	HGNC:3261	eukaryotic translation initiation factor 2B subunit epsilon	This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	ELANE	http://identifiers.org/ncbigene/1991	1991	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3309	HGNC:3309	elastase, neutrophil expressed	Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode structurally similar proteins. The encoded preproprotein is proteolytically processed to generate the active protease. Following activation, this protease hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix. The enzyme may play a role in degenerative and inflammatory diseases through proteolysis of collagen-IV and elastin. This protein also degrades the outer membrane protein A (OmpA) of E. coli as well as the virulence factors of such bacteria as Shigella, Salmonella and Yersinia. Mutations in this gene are associated with cyclic neutropenia and severe congenital neutropenia (SCN). This gene is present in a gene cluster on chromosome 19. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1200353	NANDO:1200353	ELANE	http://identifiers.org/ncbigene/1991	1991	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3309	HGNC:3309	elastase, neutrophil expressed	Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode structurally similar proteins. The encoded preproprotein is proteolytically processed to generate the active protease. Following activation, this protease hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix. The enzyme may play a role in degenerative and inflammatory diseases through proteolysis of collagen-IV and elastin. This protein also degrades the outer membrane protein A (OmpA) of E. coli as well as the virulence factors of such bacteria as Shigella, Salmonella and Yersinia. Mutations in this gene are associated with cyclic neutropenia and severe congenital neutropenia (SCN). This gene is present in a gene cluster on chromosome 19. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1200354	NANDO:1200354	ELANE	http://identifiers.org/ncbigene/1991	1991	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3309	HGNC:3309	elastase, neutrophil expressed	Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode structurally similar proteins. The encoded preproprotein is proteolytically processed to generate the active protease. Following activation, this protease hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix. The enzyme may play a role in degenerative and inflammatory diseases through proteolysis of collagen-IV and elastin. This protein also degrades the outer membrane protein A (OmpA) of E. coli as well as the virulence factors of such bacteria as Shigella, Salmonella and Yersinia. Mutations in this gene are associated with cyclic neutropenia and severe congenital neutropenia (SCN). This gene is present in a gene cluster on chromosome 19. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_2200745	NANDO:2200745	ELANE	http://identifiers.org/ncbigene/1991	1991	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3309	HGNC:3309	elastase, neutrophil expressed	Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode structurally similar proteins. The encoded preproprotein is proteolytically processed to generate the active protease. Following activation, this protease hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix. The enzyme may play a role in degenerative and inflammatory diseases through proteolysis of collagen-IV and elastin. This protein also degrades the outer membrane protein A (OmpA) of E. coli as well as the virulence factors of such bacteria as Shigella, Salmonella and Yersinia. Mutations in this gene are associated with cyclic neutropenia and severe congenital neutropenia (SCN). This gene is present in a gene cluster on chromosome 19. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_2200746	NANDO:2200746	ELANE	http://identifiers.org/ncbigene/1991	1991	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3309	HGNC:3309	elastase, neutrophil expressed	Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode structurally similar proteins. The encoded preproprotein is proteolytically processed to generate the active protease. Following activation, this protease hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix. The enzyme may play a role in degenerative and inflammatory diseases through proteolysis of collagen-IV and elastin. This protein also degrades the outer membrane protein A (OmpA) of E. coli as well as the virulence factors of such bacteria as Shigella, Salmonella and Yersinia. Mutations in this gene are associated with cyclic neutropenia and severe congenital neutropenia (SCN). This gene is present in a gene cluster on chromosome 19. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1200664	NANDO:1200664	ELN	http://identifiers.org/ncbigene/2006	2006	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3327	HGNC:3327	elastin	This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Degradation products of the encoded protein, known as elastin-derived peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200286	NANDO:2200286	ELN	http://identifiers.org/ncbigene/2006	2006	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3327	HGNC:3327	elastin	This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Degradation products of the encoded protein, known as elastin-derived peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200601	NANDO:1200601	ELP4	http://identifiers.org/ncbigene/26610	26610	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1171	HGNC:1171	elongator acetyltransferase complex subunit 4	This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
http://nanbyodata.jp/ontology/NANDO_2201402	NANDO:2201402	ELP4	http://identifiers.org/ncbigene/26610	26610	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1171	HGNC:1171	elongator acetyltransferase complex subunit 4	This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	EMD	http://identifiers.org/ncbigene/2010	2010	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3331	HGNC:3331	emerin	Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200857	NANDO:2200857	EMD	http://identifiers.org/ncbigene/2010	2010	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3331	HGNC:3331	emerin	Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200744	NANDO:1200744	ENG	http://identifiers.org/ncbigene/2022	2022	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3349	HGNC:3349	endoglin	This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]
http://nanbyodata.jp/ontology/NANDO_2200298	NANDO:2200298	ENG	http://identifiers.org/ncbigene/2022	2022	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3349	HGNC:3349	endoglin	This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]
http://nanbyodata.jp/ontology/NANDO_2201034	NANDO:2201034	ENG	http://identifiers.org/ncbigene/2022	2022	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3349	HGNC:3349	endoglin	This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]
http://nanbyodata.jp/ontology/NANDO_1200823	NANDO:1200823	ENO3	http://identifiers.org/ncbigene/2027	2027	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3354	HGNC:3354	enolase 3	This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_1200835	NANDO:1200835	ENO3	http://identifiers.org/ncbigene/2027	2027	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3354	HGNC:3354	enolase 3	This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_2200403	NANDO:2200403	ENPP1	http://identifiers.org/ncbigene/5167	5167	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3356	HGNC:3356	ectonucleotide pyrophosphatase/phosphodiesterase 1	This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with 'idiopathic' infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine (OPLL), and insulin resistance. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200461	NANDO:1200461	EP300	http://identifiers.org/ncbigene/2033	2033	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3373	HGNC:3373	E1A binding protein p300	This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200955	NANDO:2200955	EP300	http://identifiers.org/ncbigene/2033	2033	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3373	HGNC:3373	E1A binding protein p300	This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200622	NANDO:2200622	EPB42	http://identifiers.org/ncbigene/2038	2038	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3381	HGNC:3381	erythrocyte membrane protein band 4.2	Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200953	NANDO:1200953	EPM2A	http://identifiers.org/ncbigene/7957	7957	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3413	HGNC:3413	EPM2A glucan phosphatase, laforin	This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]
http://nanbyodata.jp/ontology/NANDO_1200955	NANDO:1200955	EPM2A	http://identifiers.org/ncbigene/7957	7957	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3413	HGNC:3413	EPM2A glucan phosphatase, laforin	This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]
http://nanbyodata.jp/ontology/NANDO_2200881	NANDO:2200881	EPM2A	http://identifiers.org/ncbigene/7957	7957	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3413	HGNC:3413	EPM2A glucan phosphatase, laforin	This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	EPO	http://identifiers.org/ncbigene/2056	2056	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3415	HGNC:3415	erythropoietin	This gene encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The encoded protein is mainly synthesized in the kidney, secreted into the blood plasma, and binds to the erythropoietin receptor to promote red blood cell production, or erythropoiesis, in the bone marrow. Expression of this gene is upregulated under hypoxic conditions, in turn leading to increased erythropoiesis and enhanced oxygen-carrying capacity of the blood. Expression of this gene has also been observed in brain and in the eye, and elevated expression levels have been observed in diabetic retinopathy and ocular hypertension. Recombinant forms of the encoded protein exhibit neuroprotective activity against a variety of potential brain injuries, as well as antiapoptotic functions in several tissue types, and have been used in the treatment of anemia and to enhance the efficacy of cancer therapies. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	EPO	http://identifiers.org/ncbigene/2056	2056	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3415	HGNC:3415	erythropoietin	This gene encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The encoded protein is mainly synthesized in the kidney, secreted into the blood plasma, and binds to the erythropoietin receptor to promote red blood cell production, or erythropoiesis, in the bone marrow. Expression of this gene is upregulated under hypoxic conditions, in turn leading to increased erythropoiesis and enhanced oxygen-carrying capacity of the blood. Expression of this gene has also been observed in brain and in the eye, and elevated expression levels have been observed in diabetic retinopathy and ocular hypertension. Recombinant forms of the encoded protein exhibit neuroprotective activity against a variety of potential brain injuries, as well as antiapoptotic functions in several tissue types, and have been used in the treatment of anemia and to enhance the efficacy of cancer therapies. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	EPRS1	http://identifiers.org/ncbigene/2058	2058	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3418	HGNC:3418	glutamyl-prolyl-tRNA synthetase 1	Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200594	NANDO:1200594	ERBB4	http://identifiers.org/ncbigene/2066	2066	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3432	HGNC:3432	erb-b2 receptor tyrosine kinase 4	This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201403	NANDO:2201403	ERBB4	http://identifiers.org/ncbigene/2066	2066	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3432	HGNC:3432	erb-b2 receptor tyrosine kinase 4	This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200608	NANDO:1200608	ERCC2	http://identifiers.org/ncbigene/2068	2068	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3434	HGNC:3434	ERCC excision repair 2, TFIIH core complex helicase subunit	The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
http://nanbyodata.jp/ontology/NANDO_1200609	NANDO:1200609	ERCC2	http://identifiers.org/ncbigene/2068	2068	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3434	HGNC:3434	ERCC excision repair 2, TFIIH core complex helicase subunit	The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
http://nanbyodata.jp/ontology/NANDO_1200677	NANDO:1200677	ERCC2	http://identifiers.org/ncbigene/2068	2068	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3434	HGNC:3434	ERCC excision repair 2, TFIIH core complex helicase subunit	The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
http://nanbyodata.jp/ontology/NANDO_2201002	NANDO:2201002	ERCC2	http://identifiers.org/ncbigene/2068	2068	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3434	HGNC:3434	ERCC excision repair 2, TFIIH core complex helicase subunit	The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
http://nanbyodata.jp/ontology/NANDO_1200608	NANDO:1200608	ERCC3	http://identifiers.org/ncbigene/2071	2071	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3435	HGNC:3435	ERCC excision repair 3, TFIIH core complex helicase subunit	This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
http://nanbyodata.jp/ontology/NANDO_1200609	NANDO:1200609	ERCC3	http://identifiers.org/ncbigene/2071	2071	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3435	HGNC:3435	ERCC excision repair 3, TFIIH core complex helicase subunit	This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
http://nanbyodata.jp/ontology/NANDO_1200677	NANDO:1200677	ERCC3	http://identifiers.org/ncbigene/2071	2071	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3435	HGNC:3435	ERCC excision repair 3, TFIIH core complex helicase subunit	This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
http://nanbyodata.jp/ontology/NANDO_2201002	NANDO:2201002	ERCC3	http://identifiers.org/ncbigene/2071	2071	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3435	HGNC:3435	ERCC excision repair 3, TFIIH core complex helicase subunit	This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
http://nanbyodata.jp/ontology/NANDO_1200608	NANDO:1200608	ERCC4	http://identifiers.org/ncbigene/2072	2072	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3436	HGNC:3436	ERCC excision repair 4, endonuclease catalytic subunit	The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_1200891	NANDO:1200891	ERCC4	http://identifiers.org/ncbigene/2072	2072	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3436	HGNC:3436	ERCC excision repair 4, endonuclease catalytic subunit	The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2201002	NANDO:2201002	ERCC4	http://identifiers.org/ncbigene/2072	2072	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3436	HGNC:3436	ERCC excision repair 4, endonuclease catalytic subunit	The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_1200608	NANDO:1200608	ERCC5	http://identifiers.org/ncbigene/2073	2073	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3437	HGNC:3437	ERCC excision repair 5, endonuclease	This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, cognitive disability, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_1200677	NANDO:1200677	ERCC5	http://identifiers.org/ncbigene/2073	2073	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3437	HGNC:3437	ERCC excision repair 5, endonuclease	This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, cognitive disability, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_2201002	NANDO:2201002	ERCC5	http://identifiers.org/ncbigene/2073	2073	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3437	HGNC:3437	ERCC excision repair 5, endonuclease	This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, cognitive disability, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_1200677	NANDO:1200677	ERCC6	http://identifiers.org/ncbigene/2074	2074	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3438	HGNC:3438	ERCC excision repair 6, chromatin remodeling factor	This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]
http://nanbyodata.jp/ontology/NANDO_2200832	NANDO:2200832	ERCC6	http://identifiers.org/ncbigene/2074	2074	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3438	HGNC:3438	ERCC excision repair 6, chromatin remodeling factor	This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]
http://nanbyodata.jp/ontology/NANDO_1200677	NANDO:1200677	ERCC8	http://identifiers.org/ncbigene/1161	1161	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3439	HGNC:3439	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
http://nanbyodata.jp/ontology/NANDO_2200832	NANDO:2200832	ERCC8	http://identifiers.org/ncbigene/1161	1161	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3439	HGNC:3439	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
http://nanbyodata.jp/ontology/NANDO_2200054	NANDO:2200054	ERG	http://identifiers.org/ncbigene/2078	2078	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3446	HGNC:3446	ETS transcription factor ERG	This gene encodes a member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis. The protein encoded by this gene is mainly expressed in the nucleus. It contains an ETS DNA-binding domain and a PNT (pointed) domain which is implicated in the self-association of chimeric oncoproteins. This protein is required for platelet adhesion to the subendothelium, inducing vascular cell remodeling. It also regulates hematopoesis, and the differentiation and maturation of megakaryocytic cells. This gene is involved in chromosomal translocations, resulting in different fusion gene products, such as TMPSSR2-ERG and NDRG1-ERG in prostate cancer, EWS-ERG in Ewing's sarcoma and FUS-ERG in acute myeloid leukemia. More than two dozens of transcript variants generated from combinatorial usage of three alternative promoters and multiple alternative splicing events have been reported, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Apr 2014]
http://nanbyodata.jp/ontology/NANDO_2200055	NANDO:2200055	ERG	http://identifiers.org/ncbigene/2078	2078	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3446	HGNC:3446	ETS transcription factor ERG	This gene encodes a member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis. The protein encoded by this gene is mainly expressed in the nucleus. It contains an ETS DNA-binding domain and a PNT (pointed) domain which is implicated in the self-association of chimeric oncoproteins. This protein is required for platelet adhesion to the subendothelium, inducing vascular cell remodeling. It also regulates hematopoesis, and the differentiation and maturation of megakaryocytic cells. This gene is involved in chromosomal translocations, resulting in different fusion gene products, such as TMPSSR2-ERG and NDRG1-ERG in prostate cancer, EWS-ERG in Ewing's sarcoma and FUS-ERG in acute myeloid leukemia. More than two dozens of transcript variants generated from combinatorial usage of three alternative promoters and multiple alternative splicing events have been reported, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Apr 2014]
http://nanbyodata.jp/ontology/NANDO_1200801	NANDO:1200801	ETFA	http://identifiers.org/ncbigene/2108	2108	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3481	HGNC:3481	electron transfer flavoprotein subunit alpha	ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200502	NANDO:2200502	ETFA	http://identifiers.org/ncbigene/2108	2108	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3481	HGNC:3481	electron transfer flavoprotein subunit alpha	ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200801	NANDO:1200801	ETFB	http://identifiers.org/ncbigene/2109	2109	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3482	HGNC:3482	electron transfer flavoprotein subunit beta	This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200502	NANDO:2200502	ETFB	http://identifiers.org/ncbigene/2109	2109	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3482	HGNC:3482	electron transfer flavoprotein subunit beta	This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200801	NANDO:1200801	ETFDH	http://identifiers.org/ncbigene/2110	2110	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3483	HGNC:3483	electron transfer flavoprotein dehydrogenase	This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]
http://nanbyodata.jp/ontology/NANDO_2200502	NANDO:2200502	ETFDH	http://identifiers.org/ncbigene/2110	2110	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3483	HGNC:3483	electron transfer flavoprotein dehydrogenase	This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]
http://nanbyodata.jp/ontology/NANDO_2200054	NANDO:2200054	ETV1	http://identifiers.org/ncbigene/2115	2115	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3490	HGNC:3490	ETS variant transcription factor 1	This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Ewing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2200055	NANDO:2200055	ETV1	http://identifiers.org/ncbigene/2115	2115	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3490	HGNC:3490	ETS variant transcription factor 1	This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Ewing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2200001	NANDO:2200001	ETV6	http://identifiers.org/ncbigene/2120	2120	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3495	HGNC:3495	ETS variant transcription factor 6	This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008]
http://nanbyodata.jp/ontology/NANDO_2200060	NANDO:2200060	ETV6	http://identifiers.org/ncbigene/2120	2120	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3495	HGNC:3495	ETS variant transcription factor 6	This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008]
http://nanbyodata.jp/ontology/NANDO_2200053	NANDO:2200053	EWSR1	http://identifiers.org/ncbigene/2130	2130	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3508	HGNC:3508	EWS RNA binding protein 1	This gene encodes a multifunctional protein that is involved in various cellular processes, including gene expression, cell signaling, and RNA processing and transport. The protein includes an N-terminal transcriptional activation domain and a C-terminal RNA-binding domain. Chromosomal translocations between this gene and various genes encoding transcription factors result in the production of chimeric proteins that are involved in tumorigenesis. These chimeric proteins usually consist of the N-terminal transcriptional activation domain of this protein fused to the C-terminal DNA-binding domain of the transcription factor protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and 14. [provided by RefSeq, Jul 2009]
http://nanbyodata.jp/ontology/NANDO_2200054	NANDO:2200054	EWSR1	http://identifiers.org/ncbigene/2130	2130	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3508	HGNC:3508	EWS RNA binding protein 1	This gene encodes a multifunctional protein that is involved in various cellular processes, including gene expression, cell signaling, and RNA processing and transport. The protein includes an N-terminal transcriptional activation domain and a C-terminal RNA-binding domain. Chromosomal translocations between this gene and various genes encoding transcription factors result in the production of chimeric proteins that are involved in tumorigenesis. These chimeric proteins usually consist of the N-terminal transcriptional activation domain of this protein fused to the C-terminal DNA-binding domain of the transcription factor protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and 14. [provided by RefSeq, Jul 2009]
http://nanbyodata.jp/ontology/NANDO_2200055	NANDO:2200055	EWSR1	http://identifiers.org/ncbigene/2130	2130	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3508	HGNC:3508	EWS RNA binding protein 1	This gene encodes a multifunctional protein that is involved in various cellular processes, including gene expression, cell signaling, and RNA processing and transport. The protein includes an N-terminal transcriptional activation domain and a C-terminal RNA-binding domain. Chromosomal translocations between this gene and various genes encoding transcription factors result in the production of chimeric proteins that are involved in tumorigenesis. These chimeric proteins usually consist of the N-terminal transcriptional activation domain of this protein fused to the C-terminal DNA-binding domain of the transcription factor protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and 14. [provided by RefSeq, Jul 2009]
http://nanbyodata.jp/ontology/NANDO_2200059	NANDO:2200059	EWSR1	http://identifiers.org/ncbigene/2130	2130	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3508	HGNC:3508	EWS RNA binding protein 1	This gene encodes a multifunctional protein that is involved in various cellular processes, including gene expression, cell signaling, and RNA processing and transport. The protein includes an N-terminal transcriptional activation domain and a C-terminal RNA-binding domain. Chromosomal translocations between this gene and various genes encoding transcription factors result in the production of chimeric proteins that are involved in tumorigenesis. These chimeric proteins usually consist of the N-terminal transcriptional activation domain of this protein fused to the C-terminal DNA-binding domain of the transcription factor protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and 14. [provided by RefSeq, Jul 2009]
http://nanbyodata.jp/ontology/NANDO_2200062	NANDO:2200062	EWSR1	http://identifiers.org/ncbigene/2130	2130	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3508	HGNC:3508	EWS RNA binding protein 1	This gene encodes a multifunctional protein that is involved in various cellular processes, including gene expression, cell signaling, and RNA processing and transport. The protein includes an N-terminal transcriptional activation domain and a C-terminal RNA-binding domain. Chromosomal translocations between this gene and various genes encoding transcription factors result in the production of chimeric proteins that are involved in tumorigenesis. These chimeric proteins usually consist of the N-terminal transcriptional activation domain of this protein fused to the C-terminal DNA-binding domain of the transcription factor protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and 14. [provided by RefSeq, Jul 2009]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	EXOC8	http://identifiers.org/ncbigene/149371	149371	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24659	HGNC:24659	exocyst complex component 8	This gene encodes a component of the exocyst complex, an evolutionarily conserved multi-protein complex that plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. This protein is a target of activated Ral subfamily of GTPases and thereby regulates exocytosis by tethering vesicles to the plasma membrane. Mutations in this gene may be related to Joubert syndrome. [provided by RefSeq, Sep 2016]
http://nanbyodata.jp/ontology/NANDO_2200049	NANDO:2200049	EXT1	http://identifiers.org/ncbigene/2131	2131	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3512	HGNC:3512	exostosin glycosyltransferase 1	This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201014	NANDO:2201014	EXT1	http://identifiers.org/ncbigene/2131	2131	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3512	HGNC:3512	exostosin glycosyltransferase 1	This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200049	NANDO:2200049	EXT2	http://identifiers.org/ncbigene/2132	2132	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3513	HGNC:3513	exostosin glycosyltransferase 2	This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201014	NANDO:2201014	EXT2	http://identifiers.org/ncbigene/2132	2132	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3513	HGNC:3513	exostosin glycosyltransferase 2	This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200675	NANDO:1200675	EYA1	http://identifiers.org/ncbigene/2138	2138	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3519	HGNC:3519	EYA transcriptional coactivator and phosphatase 1	This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]
http://nanbyodata.jp/ontology/NANDO_2201391	NANDO:2201391	EYA1	http://identifiers.org/ncbigene/2138	2138	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3519	HGNC:3519	EYA transcriptional coactivator and phosphatase 1	This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]
http://nanbyodata.jp/ontology/NANDO_1200945	NANDO:1200945	EYA4	http://identifiers.org/ncbigene/2070	2070	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3522	HGNC:3522	EYA transcriptional coactivator and phosphatase 4	This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_1200431	NANDO:1200431	EYS	http://identifiers.org/ncbigene/346007	346007	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21555	HGNC:21555	eyes shut homolog	The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_1200659	NANDO:1200659	EZH2	http://identifiers.org/ncbigene/2146	2146	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3527	HGNC:3527	enhancer of zeste 2 polycomb repressive complex 2 subunit	This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_2200957	NANDO:2200957	EZH2	http://identifiers.org/ncbigene/2146	2146	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3527	HGNC:3527	enhancer of zeste 2 polycomb repressive complex 2 subunit	This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_1200541	NANDO:1200541	FA2H	http://identifiers.org/ncbigene/79152	79152	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21197	HGNC:21197	fatty acid 2-hydroxylase	This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200542	NANDO:1200542	FA2H	http://identifiers.org/ncbigene/79152	79152	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21197	HGNC:21197	fatty acid 2-hydroxylase	This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	FADD	http://identifiers.org/ncbigene/8772	8772	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3573	HGNC:3573	Fas associated via death domain	The protein encoded by this gene is an adaptor molecule that interacts with various cell surface receptors and mediates cell apoptotic signals. Through its C-terminal death domain, this protein can be recruited by TNFRSF6/Fas-receptor, tumor necrosis factor receptor, TNFRSF25, and TNFSF10/TRAIL-receptor, and thus it participates in the death signaling initiated by these receptors. Interaction of this protein with the receptors unmasks the N-terminal effector domain of this protein, which allows it to recruit caspase-8, and thereby activate the cysteine protease cascade. Knockout studies in mice also suggest the importance of this protein in early T cell development. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200741	NANDO:2200741	FADD	http://identifiers.org/ncbigene/8772	8772	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3573	HGNC:3573	Fas associated via death domain	The protein encoded by this gene is an adaptor molecule that interacts with various cell surface receptors and mediates cell apoptotic signals. Through its C-terminal death domain, this protein can be recruited by TNFRSF6/Fas-receptor, tumor necrosis factor receptor, TNFRSF25, and TNFSF10/TRAIL-receptor, and thus it participates in the death signaling initiated by these receptors. Interaction of this protein with the receptors unmasks the N-terminal effector domain of this protein, which allows it to recruit caspase-8, and thereby activate the cysteine protease cascade. Knockout studies in mice also suggest the importance of this protein in early T cell development. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200788	NANDO:1200788	FAH	http://identifiers.org/ncbigene/2184	2184	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3579	HGNC:3579	fumarylacetoacetate hydrolase	This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200187	NANDO:2200187	FAH	http://identifiers.org/ncbigene/2184	2184	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3579	HGNC:3579	fumarylacetoacetate hydrolase	This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200468	NANDO:2200468	FAH	http://identifiers.org/ncbigene/2184	2184	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3579	HGNC:3579	fumarylacetoacetate hydrolase	This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200891	NANDO:1200891	FANCA	http://identifiers.org/ncbigene/2175	2175	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3582	HGNC:3582	FA complementation group A	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200891	NANDO:1200891	FANCB	http://identifiers.org/ncbigene/2187	2187	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3583	HGNC:3583	FA complementation group B	This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr 2016]
http://nanbyodata.jp/ontology/NANDO_1200891	NANDO:1200891	FANCC	http://identifiers.org/ncbigene/2176	2176	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3584	HGNC:3584	FA complementation group C	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group C. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200891	NANDO:1200891	FANCD2	http://identifiers.org/ncbigene/2177	2177	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3585	HGNC:3585	FA complementation group D2	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_1200891	NANDO:1200891	FANCE	http://identifiers.org/ncbigene/2178	2178	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3586	HGNC:3586	FA complementation group E	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group E. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200891	NANDO:1200891	FANCF	http://identifiers.org/ncbigene/2188	2188	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3587	HGNC:3587	FA complementation group F	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group F. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200891	NANDO:1200891	FANCG	http://identifiers.org/ncbigene/2189	2189	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3588	HGNC:3588	FA complementation group G	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group G. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200891	NANDO:1200891	FANCI	http://identifiers.org/ncbigene/55215	55215	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25568	HGNC:25568	FA complementation group I	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200891	NANDO:1200891	FANCL	http://identifiers.org/ncbigene/55120	55120	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20748	HGNC:20748	FA complementation group L	This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rather than by sequence similarity. This gene encodes the protein for complementation group L that mediates monoubiquitination of FANCD2 as well as FANCI. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2018]
http://nanbyodata.jp/ontology/NANDO_1200891	NANDO:1200891	FANCM	http://identifiers.org/ncbigene/57697	57697	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23168	HGNC:23168	FA complementation group M	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group M. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	FAS	http://identifiers.org/ncbigene/355	355	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11920	HGNC:11920	Fas cell surface death receptor	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_1200352	NANDO:1200352	FAS	http://identifiers.org/ncbigene/355	355	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11920	HGNC:11920	Fas cell surface death receptor	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2200726	NANDO:2200726	FAS	http://identifiers.org/ncbigene/355	355	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11920	HGNC:11920	Fas cell surface death receptor	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2200811	NANDO:2200811	FAS	http://identifiers.org/ncbigene/355	355	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11920	HGNC:11920	Fas cell surface death receptor	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	FASLG	http://identifiers.org/ncbigene/356	356	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11936	HGNC:11936	Fas ligand	This gene is a member of the tumor necrosis factor superfamily. The primary function of the encoded transmembrane protein is the induction of apoptosis triggered by binding to FAS. The FAS/FASLG signaling pathway is essential for immune system regulation, including activation-induced cell death (AICD) of T cells and cytotoxic T lymphocyte induced cell death. It has also been implicated in the progression of several cancers. Defects in this gene may be related to some cases of systemic lupus erythematosus (SLE). Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2014]
http://nanbyodata.jp/ontology/NANDO_1200352	NANDO:1200352	FASLG	http://identifiers.org/ncbigene/356	356	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11936	HGNC:11936	Fas ligand	This gene is a member of the tumor necrosis factor superfamily. The primary function of the encoded transmembrane protein is the induction of apoptosis triggered by binding to FAS. The FAS/FASLG signaling pathway is essential for immune system regulation, including activation-induced cell death (AICD) of T cells and cytotoxic T lymphocyte induced cell death. It has also been implicated in the progression of several cancers. Defects in this gene may be related to some cases of systemic lupus erythematosus (SLE). Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2014]
http://nanbyodata.jp/ontology/NANDO_2200726	NANDO:2200726	FASLG	http://identifiers.org/ncbigene/356	356	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11936	HGNC:11936	Fas ligand	This gene is a member of the tumor necrosis factor superfamily. The primary function of the encoded transmembrane protein is the induction of apoptosis triggered by binding to FAS. The FAS/FASLG signaling pathway is essential for immune system regulation, including activation-induced cell death (AICD) of T cells and cytotoxic T lymphocyte induced cell death. It has also been implicated in the progression of several cancers. Defects in this gene may be related to some cases of systemic lupus erythematosus (SLE). Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2014]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	FBLN5	http://identifiers.org/ncbigene/10516	10516	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3602	HGNC:3602	fibulin 5	The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200644	NANDO:1200644	FBN1	http://identifiers.org/ncbigene/2200	2200	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3603	HGNC:3603	fibrillin 1	This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. [provided by RefSeq, Apr 2016]
http://nanbyodata.jp/ontology/NANDO_2200968	NANDO:2200968	FBN1	http://identifiers.org/ncbigene/2200	2200	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3603	HGNC:3603	fibrillin 1	This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. [provided by RefSeq, Apr 2016]
http://nanbyodata.jp/ontology/NANDO_2201026	NANDO:2201026	FBN2	http://identifiers.org/ncbigene/2201	2201	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3604	HGNC:3604	fibrillin 2	The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200409	NANDO:2200409	FBN3	http://identifiers.org/ncbigene/84467	84467	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18794	HGNC:18794	fibrillin 3	This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016]
http://nanbyodata.jp/ontology/NANDO_2200535	NANDO:2200535	FBP1	http://identifiers.org/ncbigene/2203	2203	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3606	HGNC:3606	fructose-bisphosphatase 1	Fructose-1,6-bisphosphatase 1, a gluconeogenesis regulatory enzyme, catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. Fructose-1,6-diphosphatase deficiency is associated with hypoglycemia and metabolic acidosis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200523	NANDO:2200523	FBXL4	http://identifiers.org/ncbigene/26235	26235	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13601	HGNC:13601	F-box and leucine rich repeat protein 4	This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	FCN3	http://identifiers.org/ncbigene/8547	8547	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3625	HGNC:3625	ficolin 3	Ficolins are a group of proteins which consist of a collagen-like domain and a fibrinogen-like domain. In human serum, there are two types of ficolins, both of which have lectin activity. The protein encoded by this gene is a thermolabile beta-2-macroglycoprotein found in all human serum and is a member of the ficolin/opsonin p35 lectin family. The protein, which was initially identified based on its reactivity with sera from patients with systemic lupus erythematosus, has been shown to have a calcium-independent lectin activity. The protein can activate the complement pathway in association with MASPs and sMAP, thereby aiding in host defense through the activation of the lectin pathway. Alternative splicing occurs at this locus and two variants, each encoding a distinct isoform, have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200364	NANDO:1200364	FCN3	http://identifiers.org/ncbigene/8547	8547	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3625	HGNC:3625	ficolin 3	Ficolins are a group of proteins which consist of a collagen-like domain and a fibrinogen-like domain. In human serum, there are two types of ficolins, both of which have lectin activity. The protein encoded by this gene is a thermolabile beta-2-macroglycoprotein found in all human serum and is a member of the ficolin/opsonin p35 lectin family. The protein, which was initially identified based on its reactivity with sera from patients with systemic lupus erythematosus, has been shown to have a calcium-independent lectin activity. The protein can activate the complement pathway in association with MASPs and sMAP, thereby aiding in host defense through the activation of the lectin pathway. Alternative splicing occurs at this locus and two variants, each encoding a distinct isoform, have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200776	NANDO:2200776	FCN3	http://identifiers.org/ncbigene/8547	8547	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3625	HGNC:3625	ficolin 3	Ficolins are a group of proteins which consist of a collagen-like domain and a fibrinogen-like domain. In human serum, there are two types of ficolins, both of which have lectin activity. The protein encoded by this gene is a thermolabile beta-2-macroglycoprotein found in all human serum and is a member of the ficolin/opsonin p35 lectin family. The protein, which was initially identified based on its reactivity with sera from patients with systemic lupus erythematosus, has been shown to have a calcium-independent lectin activity. The protein can activate the complement pathway in association with MASPs and sMAP, thereby aiding in host defense through the activation of the lectin pathway. Alternative splicing occurs at this locus and two variants, each encoding a distinct isoform, have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200794	NANDO:2200794	FCN3	http://identifiers.org/ncbigene/8547	8547	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3625	HGNC:3625	ficolin 3	Ficolins are a group of proteins which consist of a collagen-like domain and a fibrinogen-like domain. In human serum, there are two types of ficolins, both of which have lectin activity. The protein encoded by this gene is a thermolabile beta-2-macroglycoprotein found in all human serum and is a member of the ficolin/opsonin p35 lectin family. The protein, which was initially identified based on its reactivity with sera from patients with systemic lupus erythematosus, has been shown to have a calcium-independent lectin activity. The protein can activate the complement pathway in association with MASPs and sMAP, thereby aiding in host defense through the activation of the lectin pathway. Alternative splicing occurs at this locus and two variants, each encoding a distinct isoform, have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200811	NANDO:1200811	FECH	http://identifiers.org/ncbigene/2235	2235	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3647	HGNC:3647	ferrochelatase	The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome 3.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_1200815	NANDO:1200815	FECH	http://identifiers.org/ncbigene/2235	2235	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3647	HGNC:3647	ferrochelatase	The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome 3.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2200610	NANDO:2200610	FECH	http://identifiers.org/ncbigene/2235	2235	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3647	HGNC:3647	ferrochelatase	The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome 3.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2201266	NANDO:2201266	FECH	http://identifiers.org/ncbigene/2235	2235	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3647	HGNC:3647	ferrochelatase	The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome 3.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_1200234	NANDO:1200234	FERMT1	http://identifiers.org/ncbigene/55612	55612	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15889	HGNC:15889	FERM domain containing kindlin 1	This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009]
http://nanbyodata.jp/ontology/NANDO_1200239	NANDO:1200239	FERMT1	http://identifiers.org/ncbigene/55612	55612	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15889	HGNC:15889	FERM domain containing kindlin 1	This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	FERMT3	http://identifiers.org/ncbigene/83706	83706	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23151	HGNC:23151	FERM domain containing kindlin 3	Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_1200355	NANDO:1200355	FERMT3	http://identifiers.org/ncbigene/83706	83706	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23151	HGNC:23151	FERM domain containing kindlin 3	Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_1200998	NANDO:1200998	FERMT3	http://identifiers.org/ncbigene/83706	83706	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23151	HGNC:23151	FERM domain containing kindlin 3	Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_2200755	NANDO:2200755	FERMT3	http://identifiers.org/ncbigene/83706	83706	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23151	HGNC:23151	FERM domain containing kindlin 3	Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_2201013	NANDO:2201013	FERMT3	http://identifiers.org/ncbigene/83706	83706	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23151	HGNC:23151	FERM domain containing kindlin 3	Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_2200054	NANDO:2200054	FEV	http://identifiers.org/ncbigene/54738	54738	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18562	HGNC:18562	FEV transcription factor, ETS family member	This gene belongs to the ETS transcription factor family. ETS family members have a highly conserved 85-amino acid ETS domain that binds purine-rich DNA sequences. The alanine-rich C-terminus of this gene indicates that it may act as a transcription repressor. This gene is exclusively expressed in neurons of the central serotonin (5-HT) system, a system implicated in the pathogeny of such psychiatric diseases as depression, anxiety, and eating disorders. In some types of Ewing tumors, this gene is fused to the Ewing sarcoma (EWS) gene following chromosome translocations. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200055	NANDO:2200055	FEV	http://identifiers.org/ncbigene/54738	54738	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18562	HGNC:18562	FEV transcription factor, ETS family member	This gene belongs to the ETS transcription factor family. ETS family members have a highly conserved 85-amino acid ETS domain that binds purine-rich DNA sequences. The alanine-rich C-terminus of this gene indicates that it may act as a transcription repressor. This gene is exclusively expressed in neurons of the central serotonin (5-HT) system, a system implicated in the pathogeny of such psychiatric diseases as depression, anxiety, and eating disorders. In some types of Ewing tumors, this gene is fused to the Ewing sarcoma (EWS) gene following chromosome translocations. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200209	NANDO:1200209	FGA	http://identifiers.org/ncbigene/2243	2243	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3661	HGNC:3661	fibrinogen alpha chain	This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1200213	NANDO:1200213	FGA	http://identifiers.org/ncbigene/2243	2243	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3661	HGNC:3661	fibrinogen alpha chain	This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	FGD4	http://identifiers.org/ncbigene/121512	121512	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19125	HGNC:19125	FYVE, RhoGEF and PH domain containing 4	This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
http://nanbyodata.jp/ontology/NANDO_2200855	NANDO:2200855	FGD4	http://identifiers.org/ncbigene/121512	121512	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19125	HGNC:19125	FYVE, RhoGEF and PH domain containing 4	This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
http://nanbyodata.jp/ontology/NANDO_2200403	NANDO:2200403	FGF23	http://identifiers.org/ncbigene/8074	8074	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3680	HGNC:3680	fibroblast growth factor 23	This gene encodes a member of the fibroblast growth factor family of proteins, which possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. The product of this gene regulates phosphate homeostasis and transport in the kidney. The full-length, functional protein may be deactivated via cleavage into N-terminal and C-terminal chains. Mutation of this cleavage site causes autosomal dominant hypophosphatemic rickets (ADHR). Mutations in this gene are also associated with hyperphosphatemic familial tumoral calcinosis (HFTC). [provided by RefSeq, Feb 2013]
http://nanbyodata.jp/ontology/NANDO_1200668	NANDO:1200668	FGFR1	http://identifiers.org/ncbigene/2260	2260	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3688	HGNC:3688	fibroblast growth factor receptor 1	The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200846	NANDO:2200846	FGFR1	http://identifiers.org/ncbigene/2260	2260	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3688	HGNC:3688	fibroblast growth factor receptor 1	The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200976	NANDO:2200976	FGFR1	http://identifiers.org/ncbigene/2260	2260	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3688	HGNC:3688	fibroblast growth factor receptor 1	The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200666	NANDO:1200666	FGFR2	http://identifiers.org/ncbigene/2263	2263	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3689	HGNC:3689	fibroblast growth factor receptor 2	The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
http://nanbyodata.jp/ontology/NANDO_1200667	NANDO:1200667	FGFR2	http://identifiers.org/ncbigene/2263	2263	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3689	HGNC:3689	fibroblast growth factor receptor 2	The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
http://nanbyodata.jp/ontology/NANDO_1200668	NANDO:1200668	FGFR2	http://identifiers.org/ncbigene/2263	2263	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3689	HGNC:3689	fibroblast growth factor receptor 2	The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
http://nanbyodata.jp/ontology/NANDO_1200669	NANDO:1200669	FGFR2	http://identifiers.org/ncbigene/2263	2263	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3689	HGNC:3689	fibroblast growth factor receptor 2	The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
http://nanbyodata.jp/ontology/NANDO_2200844	NANDO:2200844	FGFR2	http://identifiers.org/ncbigene/2263	2263	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3689	HGNC:3689	fibroblast growth factor receptor 2	The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
http://nanbyodata.jp/ontology/NANDO_2200845	NANDO:2200845	FGFR2	http://identifiers.org/ncbigene/2263	2263	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3689	HGNC:3689	fibroblast growth factor receptor 2	The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
http://nanbyodata.jp/ontology/NANDO_2200846	NANDO:2200846	FGFR2	http://identifiers.org/ncbigene/2263	2263	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3689	HGNC:3689	fibroblast growth factor receptor 2	The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
http://nanbyodata.jp/ontology/NANDO_2200975	NANDO:2200975	FGFR2	http://identifiers.org/ncbigene/2263	2263	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3689	HGNC:3689	fibroblast growth factor receptor 2	The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
http://nanbyodata.jp/ontology/NANDO_2200976	NANDO:2200976	FGFR2	http://identifiers.org/ncbigene/2263	2263	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3689	HGNC:3689	fibroblast growth factor receptor 2	The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
http://nanbyodata.jp/ontology/NANDO_1200666	NANDO:1200666	FGFR3	http://identifiers.org/ncbigene/2261	2261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3690	HGNC:3690	fibroblast growth factor receptor 3	This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200874	NANDO:1200874	FGFR3	http://identifiers.org/ncbigene/2261	2261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3690	HGNC:3690	fibroblast growth factor receptor 3	This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200875	NANDO:1200875	FGFR3	http://identifiers.org/ncbigene/2261	2261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3690	HGNC:3690	fibroblast growth factor receptor 3	This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200876	NANDO:1200876	FGFR3	http://identifiers.org/ncbigene/2261	2261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3690	HGNC:3690	fibroblast growth factor receptor 3	This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200877	NANDO:1200877	FGFR3	http://identifiers.org/ncbigene/2261	2261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3690	HGNC:3690	fibroblast growth factor receptor 3	This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200845	NANDO:2200845	FGFR3	http://identifiers.org/ncbigene/2261	2261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3690	HGNC:3690	fibroblast growth factor receptor 3	This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2201009	NANDO:2201009	FGFR3	http://identifiers.org/ncbigene/2261	2261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3690	HGNC:3690	fibroblast growth factor receptor 3	This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2201010	NANDO:2201010	FGFR3	http://identifiers.org/ncbigene/2261	2261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3690	HGNC:3690	fibroblast growth factor receptor 3	This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2201426	NANDO:2201426	FGFR3	http://identifiers.org/ncbigene/2261	2261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3690	HGNC:3690	fibroblast growth factor receptor 3	This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200032	NANDO:1200032	FHL1	http://identifiers.org/ncbigene/2273	2273	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3702	HGNC:3702	four and a half LIM domains 1	This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_1200216	NANDO:1200216	FHL1	http://identifiers.org/ncbigene/2273	2273	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3702	HGNC:3702	four and a half LIM domains 1	This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	FHL1	http://identifiers.org/ncbigene/2273	2273	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3702	HGNC:3702	four and a half LIM domains 1	This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_2200875	NANDO:2200875	FHL1	http://identifiers.org/ncbigene/2273	2273	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3702	HGNC:3702	four and a half LIM domains 1	This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_2200855	NANDO:2200855	FIG4	http://identifiers.org/ncbigene/9896	9896	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16873	HGNC:16873	FIG4 phosphoinositide 5-phosphatase	The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200805	NANDO:2200805	FIP1L1	http://identifiers.org/ncbigene/81608	81608	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19124	HGNC:19124	factor interacting with PAPOLA and CPSF1	This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 amino acids of FIP1L1 to the last 523 amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200806	NANDO:2200806	FIP1L1	http://identifiers.org/ncbigene/81608	81608	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19124	HGNC:19124	factor interacting with PAPOLA and CPSF1	This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 amino acids of FIP1L1 to the last 523 amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200873	NANDO:1200873	FKBP10	http://identifiers.org/ncbigene/60681	60681	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18169	HGNC:18169	FKBP prolyl isomerase 10	The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_2201011	NANDO:2201011	FKBP10	http://identifiers.org/ncbigene/60681	60681	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18169	HGNC:18169	FKBP prolyl isomerase 10	The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_1200645	NANDO:1200645	FKBP14	http://identifiers.org/ncbigene/55033	55033	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18625	HGNC:18625	FKBP prolyl isomerase 14	The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_1200649	NANDO:1200649	FKBP14	http://identifiers.org/ncbigene/55033	55033	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18625	HGNC:18625	FKBP prolyl isomerase 14	The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	FKRP	http://identifiers.org/ncbigene/79147	79147	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17997	HGNC:17997	fukutin related protein	This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	FKRP	http://identifiers.org/ncbigene/79147	79147	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17997	HGNC:17997	fukutin related protein	This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	FKTN	http://identifiers.org/ncbigene/2218	2218	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3622	HGNC:3622	fukutin	The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]
http://nanbyodata.jp/ontology/NANDO_2200860	NANDO:2200860	FKTN	http://identifiers.org/ncbigene/2218	2218	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3622	HGNC:3622	fukutin	The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	FKTN	http://identifiers.org/ncbigene/2218	2218	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3622	HGNC:3622	fukutin	The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]
http://nanbyodata.jp/ontology/NANDO_2200053	NANDO:2200053	FLI1	http://identifiers.org/ncbigene/2313	2313	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3749	HGNC:3749	Fli-1 proto-oncogene, ETS transcription factor	This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11;22)(q24;q12) translocation with the Ewing sarcoma gene on chromosome 22, which results in a fusion gene that is present in the majority of Ewing sarcoma cases. An acute lymphoblastic leukemia-associated t(4;11)(q21;q23) translocation involving this gene has also been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_2200054	NANDO:2200054	FLI1	http://identifiers.org/ncbigene/2313	2313	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3749	HGNC:3749	Fli-1 proto-oncogene, ETS transcription factor	This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11;22)(q24;q12) translocation with the Ewing sarcoma gene on chromosome 22, which results in a fusion gene that is present in the majority of Ewing sarcoma cases. An acute lymphoblastic leukemia-associated t(4;11)(q21;q23) translocation involving this gene has also been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_2200055	NANDO:2200055	FLI1	http://identifiers.org/ncbigene/2313	2313	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3749	HGNC:3749	Fli-1 proto-oncogene, ETS transcription factor	This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11;22)(q24;q12) translocation with the Ewing sarcoma gene on chromosome 22, which results in a fusion gene that is present in the majority of Ewing sarcoma cases. An acute lymphoblastic leukemia-associated t(4;11)(q21;q23) translocation involving this gene has also been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_2200659	NANDO:2200659	FLI1	http://identifiers.org/ncbigene/2313	2313	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3749	HGNC:3749	Fli-1 proto-oncogene, ETS transcription factor	This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11;22)(q24;q12) translocation with the Ewing sarcoma gene on chromosome 22, which results in a fusion gene that is present in the majority of Ewing sarcoma cases. An acute lymphoblastic leukemia-associated t(4;11)(q21;q23) translocation involving this gene has also been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_2200666	NANDO:2200666	FLI1	http://identifiers.org/ncbigene/2313	2313	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3749	HGNC:3749	Fli-1 proto-oncogene, ETS transcription factor	This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11;22)(q24;q12) translocation with the Ewing sarcoma gene on chromosome 22, which results in a fusion gene that is present in the majority of Ewing sarcoma cases. An acute lymphoblastic leukemia-associated t(4;11)(q21;q23) translocation involving this gene has also been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_2201019	NANDO:2201019	FLNB	http://identifiers.org/ncbigene/2317	2317	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3755	HGNC:3755	filamin B	This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_1200032	NANDO:1200032	FLNC	http://identifiers.org/ncbigene/2318	2318	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3756	HGNC:3756	filamin C	This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200216	NANDO:1200216	FLNC	http://identifiers.org/ncbigene/2318	2318	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3756	HGNC:3756	filamin C	This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201031	NANDO:2201031	FLT4	http://identifiers.org/ncbigene/2324	2324	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3767	HGNC:3767	fms related receptor tyrosine kinase 4	This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200690	NANDO:1200690	FMR1	http://identifiers.org/ncbigene/2332	2332	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3775	HGNC:3775	FMRP translational regulator 1	The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_1200691	NANDO:1200691	FMR1	http://identifiers.org/ncbigene/2332	2332	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3775	HGNC:3775	FMRP translational regulator 1	The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_1200692	NANDO:1200692	FMR1	http://identifiers.org/ncbigene/2332	2332	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3775	HGNC:3775	FMRP translational regulator 1	The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2200840	NANDO:2200840	FMR1	http://identifiers.org/ncbigene/2332	2332	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3775	HGNC:3775	FMRP translational regulator 1	The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2200133	NANDO:2200133	FN1	http://identifiers.org/ncbigene/2335	2335	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3778	HGNC:3778	fibronectin 1	This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. The encoded preproprotein is proteolytically processed to generate the mature protein. Fibronectin is involved in cell adhesion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The gene has three regions subject to alternative splicing, with the potential to produce 20 different transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. The full-length nature of some variants has not been determined. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1201000	NANDO:1201000	FOXC1	http://identifiers.org/ncbigene/2296	2296	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3800	HGNC:3800	forkhead box C1	This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain.  The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development.  Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200200	NANDO:2200200	FOXF1	http://identifiers.org/ncbigene/2294	2294	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3809	HGNC:3809	forkhead box F1	This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain.  The specific function of this gene has not yet been determined; however, it may play a role in the regulation of pulmonary genes as well as embryonic development. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200591	NANDO:1200591	FOXG1	http://identifiers.org/ncbigene/2290	2290	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3811	HGNC:3811	forkhead box G1	This locus encodes a member of the fork-head transcription factor family. The encoded protein, which functions as a transcriptional repressor, is highly expressed in neural tissues during brain development. Mutations at this locus have been associated with Rett syndrome and a diverse spectrum of neurodevelopmental disorders defined as part of the FOXG1 syndrome. This gene is disregulated in many types of cancer and is the target of multiple microRNAs that regulate the proliferation of tumor cells. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_1200603	NANDO:1200603	FOXG1	http://identifiers.org/ncbigene/2290	2290	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3811	HGNC:3811	forkhead box G1	This locus encodes a member of the fork-head transcription factor family. The encoded protein, which functions as a transcriptional repressor, is highly expressed in neural tissues during brain development. Mutations at this locus have been associated with Rett syndrome and a diverse spectrum of neurodevelopmental disorders defined as part of the FOXG1 syndrome. This gene is disregulated in many types of cancer and is the target of multiple microRNAs that regulate the proliferation of tumor cells. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_1200605	NANDO:1200605	FOXG1	http://identifiers.org/ncbigene/2290	2290	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3811	HGNC:3811	forkhead box G1	This locus encodes a member of the fork-head transcription factor family. The encoded protein, which functions as a transcriptional repressor, is highly expressed in neural tissues during brain development. Mutations at this locus have been associated with Rett syndrome and a diverse spectrum of neurodevelopmental disorders defined as part of the FOXG1 syndrome. This gene is disregulated in many types of cancer and is the target of multiple microRNAs that regulate the proliferation of tumor cells. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_2200825	NANDO:2200825	FOXG1	http://identifiers.org/ncbigene/2290	2290	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3811	HGNC:3811	forkhead box G1	This locus encodes a member of the fork-head transcription factor family. The encoded protein, which functions as a transcriptional repressor, is highly expressed in neural tissues during brain development. Mutations at this locus have been associated with Rett syndrome and a diverse spectrum of neurodevelopmental disorders defined as part of the FOXG1 syndrome. This gene is disregulated in many types of cancer and is the target of multiple microRNAs that regulate the proliferation of tumor cells. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	FOXJ1	http://identifiers.org/ncbigene/2302	2302	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3816	HGNC:3816	forkhead box J1	This gene encodes a member of the forkhead family of transcription factors. Similar genes in zebrafish and mouse have been shown to regulate the transcription of genes that control the production of motile cilia. The mouse ortholog also functions in the determination of left-right asymmetry. Polymorphisms in this gene are associated with systemic lupus erythematosus and allergic rhinitis.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2200384	NANDO:2200384	FOXL2	http://identifiers.org/ncbigene/668	668	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1092	HGNC:1092	forkhead box L2	This gene encodes a forkhead transcription factor. The protein contains a fork-head DNA-binding domain and may play a role in ovarian development and function. Expansion of a polyalanine repeat region and other mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2200056	NANDO:2200056	FOXO1	http://identifiers.org/ncbigene/2308	2308	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3819	HGNC:3819	forkhead box O1	This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain.  The specific function of this gene has not yet been determined; however, it may play a role in myogenic growth and differentiation. Translocation of this gene with PAX3 has been associated with alveolar rhabdomyosarcoma. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200463	NANDO:2200463	FOXP3	http://identifiers.org/ncbigene/50943	50943	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6106	HGNC:6106	forkhead box P3	The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), also known as X-linked autoimmunity-immunodeficiency syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	FOXP3	http://identifiers.org/ncbigene/50943	50943	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6106	HGNC:6106	forkhead box P3	The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), also known as X-linked autoimmunity-immunodeficiency syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200923	NANDO:2200923	FOXP3	http://identifiers.org/ncbigene/50943	50943	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6106	HGNC:6106	forkhead box P3	The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), also known as X-linked autoimmunity-immunodeficiency syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200924	NANDO:2200924	FOXP3	http://identifiers.org/ncbigene/50943	50943	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6106	HGNC:6106	forkhead box P3	The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), also known as X-linked autoimmunity-immunodeficiency syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201435	NANDO:2201435	FOXP3	http://identifiers.org/ncbigene/50943	50943	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6106	HGNC:6106	forkhead box P3	The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), also known as X-linked autoimmunity-immunodeficiency syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200539	NANDO:1200539	FTL	http://identifiers.org/ncbigene/2512	2512	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3999	HGNC:3999	ferritin light chain	This gene encodes the light subunit of the ferritin protein. Ferritin is the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in this light chain ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200542	NANDO:1200542	FTL	http://identifiers.org/ncbigene/2512	2512	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3999	HGNC:3999	ferritin light chain	This gene encodes the light subunit of the ferritin protein. Ferritin is the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in this light chain ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	FUCA1	http://identifiers.org/ncbigene/2517	2517	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4006	HGNC:4006	alpha-L-fucosidase 1	The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200130	NANDO:1200130	FUCA1	http://identifiers.org/ncbigene/2517	2517	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4006	HGNC:4006	alpha-L-fucosidase 1	The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2200553	NANDO:2200553	FUCA1	http://identifiers.org/ncbigene/2517	2517	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4006	HGNC:4006	alpha-L-fucosidase 1	The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200002	NANDO:1200002	FUS	http://identifiers.org/ncbigene/2521	2521	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4010	HGNC:4010	FUS RNA binding protein	This gene encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully processed mRNA to the cytoplasm. This protein belongs to the FET family of RNA-binding proteins which have been implicated in cellular processes that include regulation of gene expression, maintenance of genomic integrity and mRNA/microRNA processing. Alternative splicing results in multiple transcript variants. Defects in this gene result in amyotrophic lateral sclerosis type 6. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200008	NANDO:1200008	FUS	http://identifiers.org/ncbigene/2521	2521	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4010	HGNC:4010	FUS RNA binding protein	This gene encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully processed mRNA to the cytoplasm. This protein belongs to the FET family of RNA-binding proteins which have been implicated in cellular processes that include regulation of gene expression, maintenance of genomic integrity and mRNA/microRNA processing. Alternative splicing results in multiple transcript variants. Defects in this gene result in amyotrophic lateral sclerosis type 6. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2200065	NANDO:2200065	FUS	http://identifiers.org/ncbigene/2521	2521	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4010	HGNC:4010	FUS RNA binding protein	This gene encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully processed mRNA to the cytoplasm. This protein belongs to the FET family of RNA-binding proteins which have been implicated in cellular processes that include regulation of gene expression, maintenance of genomic integrity and mRNA/microRNA processing. Alternative splicing results in multiple transcript variants. Defects in this gene result in amyotrophic lateral sclerosis type 6. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2201031	NANDO:2201031	FoxC2	http://identifiers.org/ncbigene/2303	2303	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3801	HGNC:3801	forkhead box C2	This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain.  The specific function of this gene has not yet been determined; however, it may play a role in the development of mesenchymal tissues. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200838	NANDO:1200838	G6PC1	http://identifiers.org/ncbigene/2538	2538	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4056	HGNC:4056	glucose-6-phosphatase catalytic subunit 1	Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_1200840	NANDO:1200840	G6PC1	http://identifiers.org/ncbigene/2538	2538	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4056	HGNC:4056	glucose-6-phosphatase catalytic subunit 1	Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_1201018	NANDO:1201018	G6PC1	http://identifiers.org/ncbigene/2538	2538	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4056	HGNC:4056	glucose-6-phosphatase catalytic subunit 1	Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_2200187	NANDO:2200187	G6PC1	http://identifiers.org/ncbigene/2538	2538	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4056	HGNC:4056	glucose-6-phosphatase catalytic subunit 1	Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_2200538	NANDO:2200538	G6PC1	http://identifiers.org/ncbigene/2538	2538	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4056	HGNC:4056	glucose-6-phosphatase catalytic subunit 1	Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_2201153	NANDO:2201153	G6PC1	http://identifiers.org/ncbigene/2538	2538	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4056	HGNC:4056	glucose-6-phosphatase catalytic subunit 1	Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	G6PC3	http://identifiers.org/ncbigene/92579	92579	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24861	HGNC:24861	glucose-6-phosphatase catalytic subunit 3	This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_1200353	NANDO:1200353	G6PC3	http://identifiers.org/ncbigene/92579	92579	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24861	HGNC:24861	glucose-6-phosphatase catalytic subunit 3	This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_2200745	NANDO:2200745	G6PC3	http://identifiers.org/ncbigene/92579	92579	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24861	HGNC:24861	glucose-6-phosphatase catalytic subunit 3	This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_2200627	NANDO:2200627	G6PD	http://identifiers.org/ncbigene/2539	2539	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4057	HGNC:4057	glucose-6-phosphate dehydrogenase	This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	GAA	http://identifiers.org/ncbigene/2548	2548	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4065	HGNC:4065	alpha glucosidase	This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1200138	NANDO:1200138	GAA	http://identifiers.org/ncbigene/2548	2548	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4065	HGNC:4065	alpha glucosidase	This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1200823	NANDO:1200823	GAA	http://identifiers.org/ncbigene/2548	2548	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4065	HGNC:4065	alpha glucosidase	This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1200825	NANDO:1200825	GAA	http://identifiers.org/ncbigene/2548	2548	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4065	HGNC:4065	alpha glucosidase	This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_2200569	NANDO:2200569	GAA	http://identifiers.org/ncbigene/2548	2548	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4065	HGNC:4065	alpha glucosidase	This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_2201403	NANDO:2201403	GABRB2	http://identifiers.org/ncbigene/2561	2561	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4082	HGNC:4082	gamma-aminobutyric acid type A receptor subunit beta2	The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200591	NANDO:1200591	GABRB3	http://identifiers.org/ncbigene/2562	2562	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4083	HGNC:4083	gamma-aminobutyric acid type A receptor subunit beta3	This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_1200587	NANDO:1200587	GABRG2	http://identifiers.org/ncbigene/2566	2566	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4087	HGNC:4087	gamma-aminobutyric acid type A receptor subunit gamma2	This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200877	NANDO:2200877	GABRG2	http://identifiers.org/ncbigene/2566	2566	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4087	HGNC:4087	gamma-aminobutyric acid type A receptor subunit gamma2	This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	GALC	http://identifiers.org/ncbigene/2581	2581	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4115	HGNC:4115	galactosylceramidase	This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	GALC	http://identifiers.org/ncbigene/2581	2581	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4115	HGNC:4115	galactosylceramidase	This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200074	NANDO:1200074	GALC	http://identifiers.org/ncbigene/2581	2581	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4115	HGNC:4115	galactosylceramidase	This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200564	NANDO:2200564	GALC	http://identifiers.org/ncbigene/2581	2581	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4115	HGNC:4115	galactosylceramidase	This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200546	NANDO:2200546	GALM	http://identifiers.org/ncbigene/130589	130589	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24063	HGNC:24063	galactose mutarotase	This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.[provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	GALNS	http://identifiers.org/ncbigene/2588	2588	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4122	HGNC:4122	galactosamine (N-acetyl)-6-sulfatase	This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200105	NANDO:1200105	GALNS	http://identifiers.org/ncbigene/2588	2588	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4122	HGNC:4122	galactosamine (N-acetyl)-6-sulfatase	This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200106	NANDO:1200106	GALNS	http://identifiers.org/ncbigene/2588	2588	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4122	HGNC:4122	galactosamine (N-acetyl)-6-sulfatase	This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200550	NANDO:2200550	GALNS	http://identifiers.org/ncbigene/2588	2588	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4122	HGNC:4122	galactosamine (N-acetyl)-6-sulfatase	This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200851	NANDO:1200851	GALT	http://identifiers.org/ncbigene/2592	2592	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4135	HGNC:4135	galactose-1-phosphate uridylyltransferase	Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_2200187	NANDO:2200187	GALT	http://identifiers.org/ncbigene/2592	2592	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4135	HGNC:4135	galactose-1-phosphate uridylyltransferase	Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_2200532	NANDO:2200532	GALT	http://identifiers.org/ncbigene/2592	2592	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4135	HGNC:4135	galactose-1-phosphate uridylyltransferase	Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_1201032	NANDO:1201032	GAMT	http://identifiers.org/ncbigene/2593	2593	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4136	HGNC:4136	guanidinoacetate N-methyltransferase	The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]
http://nanbyodata.jp/ontology/NANDO_1201034	NANDO:1201034	GAMT	http://identifiers.org/ncbigene/2593	2593	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4136	HGNC:4136	guanidinoacetate N-methyltransferase	The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]
http://nanbyodata.jp/ontology/NANDO_2200842	NANDO:2200842	GAMT	http://identifiers.org/ncbigene/2593	2593	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4136	HGNC:4136	guanidinoacetate N-methyltransferase	The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]
http://nanbyodata.jp/ontology/NANDO_2201300	NANDO:2201300	GAMT	http://identifiers.org/ncbigene/2593	2593	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4136	HGNC:4136	guanidinoacetate N-methyltransferase	The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	GAN	http://identifiers.org/ncbigene/8139	8139	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4137	HGNC:4137	gigaxonin	This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	GARS1	http://identifiers.org/ncbigene/2617	2617	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4162	HGNC:4162	glycyl-tRNA synthetase 1	This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_2200855	NANDO:2200855	GARS1	http://identifiers.org/ncbigene/2617	2617	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4162	HGNC:4162	glycyl-tRNA synthetase 1	This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	GAS2L2	http://identifiers.org/ncbigene/246176	246176	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24846	HGNC:24846	growth arrest specific 2 like 2	The protein encoded by this gene appears to crosslink microtubules and microfilaments and may be part of the cytoskeleton. This gene is mainly expressed in skeletal muscle. [provided by RefSeq, Jul 2011]
http://nanbyodata.jp/ontology/NANDO_1200885	NANDO:1200885	GATA1	http://identifiers.org/ncbigene/2623	2623	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4170	HGNC:4170	GATA binding protein 1	This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	GATA1	http://identifiers.org/ncbigene/2623	2623	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4170	HGNC:4170	GATA binding protein 1	This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200008	NANDO:2200008	GATA1	http://identifiers.org/ncbigene/2623	2623	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4170	HGNC:4170	GATA binding protein 1	This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200009	NANDO:2200009	GATA1	http://identifiers.org/ncbigene/2623	2623	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4170	HGNC:4170	GATA binding protein 1	This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200011	NANDO:2200011	GATA1	http://identifiers.org/ncbigene/2623	2623	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4170	HGNC:4170	GATA binding protein 1	This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	GATA1	http://identifiers.org/ncbigene/2623	2623	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4170	HGNC:4170	GATA binding protein 1	This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200005	NANDO:2200005	GATA2	http://identifiers.org/ncbigene/2624	2624	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4171	HGNC:4171	GATA binding protein 2	This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2200006	NANDO:2200006	GATA2	http://identifiers.org/ncbigene/2624	2624	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4171	HGNC:4171	GATA binding protein 2	This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2200007	NANDO:2200007	GATA2	http://identifiers.org/ncbigene/2624	2624	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4171	HGNC:4171	GATA binding protein 2	This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2200009	NANDO:2200009	GATA2	http://identifiers.org/ncbigene/2624	2624	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4171	HGNC:4171	GATA binding protein 2	This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2200010	NANDO:2200010	GATA2	http://identifiers.org/ncbigene/2624	2624	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4171	HGNC:4171	GATA binding protein 2	This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2200011	NANDO:2200011	GATA2	http://identifiers.org/ncbigene/2624	2624	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4171	HGNC:4171	GATA binding protein 2	This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2200019	NANDO:2200019	GATA2	http://identifiers.org/ncbigene/2624	2624	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4171	HGNC:4171	GATA binding protein 2	This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2200200	NANDO:2200200	GATA2	http://identifiers.org/ncbigene/2624	2624	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4171	HGNC:4171	GATA binding protein 2	This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2200760	NANDO:2200760	GATA2	http://identifiers.org/ncbigene/2624	2624	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4171	HGNC:4171	GATA binding protein 2	This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2200383	NANDO:2200383	GATA4	http://identifiers.org/ncbigene/2626	2626	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4173	HGNC:4173	GATA binding protein 4	This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
http://nanbyodata.jp/ontology/NANDO_2201435	NANDO:2201435	GATA6	http://identifiers.org/ncbigene/2627	2627	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4174	HGNC:4174	GATA binding protein 6	This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed during early embryogenesis and localizes to endo- and mesodermally derived cells during later embryogenesis and thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with several congenital defects. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_1201032	NANDO:1201032	GATM	http://identifiers.org/ncbigene/2628	2628	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4175	HGNC:4175	glycine amidinotransferase	error
http://nanbyodata.jp/ontology/NANDO_1201033	NANDO:1201033	GATM	http://identifiers.org/ncbigene/2628	2628	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4175	HGNC:4175	glycine amidinotransferase	error
http://nanbyodata.jp/ontology/NANDO_2200842	NANDO:2200842	GATM	http://identifiers.org/ncbigene/2628	2628	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4175	HGNC:4175	glycine amidinotransferase	error
http://nanbyodata.jp/ontology/NANDO_2201299	NANDO:2201299	GATM	http://identifiers.org/ncbigene/2628	2628	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4175	HGNC:4175	glycine amidinotransferase	error
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	GBA1	http://identifiers.org/ncbigene/2629	2629	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4177	HGNC:4177	glucosylceramidase beta	This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_1200056	NANDO:1200056	GBA1	http://identifiers.org/ncbigene/2629	2629	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4177	HGNC:4177	glucosylceramidase beta	This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_2200562	NANDO:2200562	GBA1	http://identifiers.org/ncbigene/2629	2629	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4177	HGNC:4177	glucosylceramidase beta	This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_1200823	NANDO:1200823	GBE1	http://identifiers.org/ncbigene/2632	2632	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4180	HGNC:4180	1,4-alpha-glucan branching enzyme 1	The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200827	NANDO:1200827	GBE1	http://identifiers.org/ncbigene/2632	2632	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4180	HGNC:4180	1,4-alpha-glucan branching enzyme 1	The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200838	NANDO:1200838	GBE1	http://identifiers.org/ncbigene/2632	2632	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4180	HGNC:4180	1,4-alpha-glucan branching enzyme 1	The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200850	NANDO:1200850	GBE1	http://identifiers.org/ncbigene/2632	2632	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4180	HGNC:4180	1,4-alpha-glucan branching enzyme 1	The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200540	NANDO:2200540	GBE1	http://identifiers.org/ncbigene/2632	2632	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4180	HGNC:4180	1,4-alpha-glucan branching enzyme 1	The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200800	NANDO:1200800	GCDH	http://identifiers.org/ncbigene/2639	2639	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4189	HGNC:4189	glutaryl-CoA dehydrogenase	The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013]
http://nanbyodata.jp/ontology/NANDO_2200501	NANDO:2200501	GCDH	http://identifiers.org/ncbigene/2639	2639	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4189	HGNC:4189	glutaryl-CoA dehydrogenase	The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	GCH1	http://identifiers.org/ncbigene/2643	2643	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4193	HGNC:4193	GTP cyclohydrolase 1	This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200516	NANDO:1200516	GCH1	http://identifiers.org/ncbigene/2643	2643	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4193	HGNC:4193	GTP cyclohydrolase 1	This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200594	NANDO:2200594	GCH1	http://identifiers.org/ncbigene/2643	2643	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4193	HGNC:4193	GTP cyclohydrolase 1	This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200885	NANDO:2200885	GCH1	http://identifiers.org/ncbigene/2643	2643	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4193	HGNC:4193	GTP cyclohydrolase 1	This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200399	NANDO:2200399	GCK	http://identifiers.org/ncbigene/2645	2645	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4195	HGNC:4195	glucokinase	This gene encodes a member of the hexokinase family of proteins. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. The use of multiple promoters and alternative splicing of this gene result in distinct protein isoforms that exhibit tissue-specific expression in the pancreas and liver. In the pancreas, this enzyme plays a role in glucose-stimulated insulin secretion, while in the liver, this enzyme is important in glucose uptake and conversion to glycogen. Mutations in this gene that alter enzyme activity have been associated with multiple types of diabetes and hyperinsulinemic hypoglycemia. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200462	NANDO:2200462	GCK	http://identifiers.org/ncbigene/2645	2645	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4195	HGNC:4195	glucokinase	This gene encodes a member of the hexokinase family of proteins. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. The use of multiple promoters and alternative splicing of this gene result in distinct protein isoforms that exhibit tissue-specific expression in the pancreas and liver. In the pancreas, this enzyme plays a role in glucose-stimulated insulin secretion, while in the liver, this enzyme is important in glucose uptake and conversion to glycogen. Mutations in this gene that alter enzyme activity have been associated with multiple types of diabetes and hyperinsulinemic hypoglycemia. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200463	NANDO:2200463	GCK	http://identifiers.org/ncbigene/2645	2645	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4195	HGNC:4195	glucokinase	This gene encodes a member of the hexokinase family of proteins. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. The use of multiple promoters and alternative splicing of this gene result in distinct protein isoforms that exhibit tissue-specific expression in the pancreas and liver. In the pancreas, this enzyme plays a role in glucose-stimulated insulin secretion, while in the liver, this enzyme is important in glucose uptake and conversion to glycogen. Mutations in this gene that alter enzyme activity have been associated with multiple types of diabetes and hyperinsulinemic hypoglycemia. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2201070	NANDO:2201070	GCK	http://identifiers.org/ncbigene/2645	2645	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4195	HGNC:4195	glucokinase	This gene encodes a member of the hexokinase family of proteins. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. The use of multiple promoters and alternative splicing of this gene result in distinct protein isoforms that exhibit tissue-specific expression in the pancreas and liver. In the pancreas, this enzyme plays a role in glucose-stimulated insulin secretion, while in the liver, this enzyme is important in glucose uptake and conversion to glycogen. Mutations in this gene that alter enzyme activity have been associated with multiple types of diabetes and hyperinsulinemic hypoglycemia. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2201435	NANDO:2201435	GCK	http://identifiers.org/ncbigene/2645	2645	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4195	HGNC:4195	glucokinase	This gene encodes a member of the hexokinase family of proteins. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. The use of multiple promoters and alternative splicing of this gene result in distinct protein isoforms that exhibit tissue-specific expression in the pancreas and liver. In the pancreas, this enzyme plays a role in glucose-stimulated insulin secretion, while in the liver, this enzyme is important in glucose uptake and conversion to glycogen. Mutations in this gene that alter enzyme activity have been associated with multiple types of diabetes and hyperinsulinemic hypoglycemia. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200344	NANDO:2200344	GCM2	http://identifiers.org/ncbigene/9247	9247	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4198	HGNC:4198	glial cells missing transcription factor 2	This gene is a homolog of the Drosophila glial cells missing gene, which is thought to act as a binary switch between neuronal and glial cell determination. The protein encoded by this gene contains a conserved N-terminal GCM motif that has DNA-binding activity. The protein is a transcription factor that acts as a master regulator of parathyroid development. It has been suggested that this transcription factor might mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. Mutations in this gene are associated with hypoparathyroidism. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200984	NANDO:1200984	GCSH	http://identifiers.org/ncbigene/2653	2653	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4208	HGNC:4208	glycine cleavage system protein H	Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_1200985	NANDO:1200985	GCSH	http://identifiers.org/ncbigene/2653	2653	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4208	HGNC:4208	glycine cleavage system protein H	Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_1200986	NANDO:1200986	GCSH	http://identifiers.org/ncbigene/2653	2653	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4208	HGNC:4208	glycine cleavage system protein H	Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_2200476	NANDO:2200476	GCSH	http://identifiers.org/ncbigene/2653	2653	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4208	HGNC:4208	glycine cleavage system protein H	Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	GDAP1	http://identifiers.org/ncbigene/54332	54332	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15968	HGNC:15968	ganglioside induced differentiation associated protein 1	This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]
http://nanbyodata.jp/ontology/NANDO_2200855	NANDO:2200855	GDAP1	http://identifiers.org/ncbigene/54332	54332	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15968	HGNC:15968	ganglioside induced differentiation associated protein 1	This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]
http://nanbyodata.jp/ontology/NANDO_1200554	NANDO:1200554	GFAP	http://identifiers.org/ncbigene/2670	2670	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4235	HGNC:4235	glial fibrillary acidic protein	This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200555	NANDO:1200555	GFAP	http://identifiers.org/ncbigene/2670	2670	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4235	HGNC:4235	glial fibrillary acidic protein	This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200556	NANDO:1200556	GFAP	http://identifiers.org/ncbigene/2670	2670	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4235	HGNC:4235	glial fibrillary acidic protein	This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200557	NANDO:1200557	GFAP	http://identifiers.org/ncbigene/2670	2670	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4235	HGNC:4235	glial fibrillary acidic protein	This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200835	NANDO:2200835	GFAP	http://identifiers.org/ncbigene/2670	2670	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4235	HGNC:4235	glial fibrillary acidic protein	This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	GFI1	http://identifiers.org/ncbigene/2672	2672	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4237	HGNC:4237	growth factor independent 1 transcriptional repressor	This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200353	NANDO:1200353	GFI1	http://identifiers.org/ncbigene/2672	2672	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4237	HGNC:4237	growth factor independent 1 transcriptional repressor	This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200745	NANDO:2200745	GFI1	http://identifiers.org/ncbigene/2672	2672	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4237	HGNC:4237	growth factor independent 1 transcriptional repressor	This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200021	NANDO:1200021	GFPT1	http://identifiers.org/ncbigene/2673	2673	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4241	HGNC:4241	glutamine--fructose-6-phosphate transaminase 1	This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq, Sep 2008]
http://nanbyodata.jp/ontology/NANDO_2201017	NANDO:2201017	GGCX	http://identifiers.org/ncbigene/2677	2677	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4247	HGNC:4247	gamma-glutamyl carboxylase	This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
http://nanbyodata.jp/ontology/NANDO_1200386	NANDO:1200386	GH1	http://identifiers.org/ncbigene/2688	2688	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4261	HGNC:4261	growth hormone 1	The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200320	NANDO:2200320	GHR	http://identifiers.org/ncbigene/2690	2690	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4263	HGNC:4263	growth hormone receptor	This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]
http://nanbyodata.jp/ontology/NANDO_2200321	NANDO:2200321	GHR	http://identifiers.org/ncbigene/2690	2690	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4263	HGNC:4263	growth hormone receptor	This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]
http://nanbyodata.jp/ontology/NANDO_1200386	NANDO:1200386	GHRHR	http://identifiers.org/ncbigene/2692	2692	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4266	HGNC:4266	growth hormone releasing hormone receptor	This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_1200216	NANDO:1200216	GIPC1	http://identifiers.org/ncbigene/10755	10755	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1226	HGNC:1226	GIPC PDZ domain containing family member 1	GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009]
http://nanbyodata.jp/ontology/NANDO_1200219	NANDO:1200219	GIPC1	http://identifiers.org/ncbigene/10755	10755	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1226	HGNC:1226	GIPC PDZ domain containing family member 1	GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009]
http://nanbyodata.jp/ontology/NANDO_2201022	NANDO:2201022	GJA1	http://identifiers.org/ncbigene/2697	2697	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4274	HGNC:4274	gap junction protein alpha 1	This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_2201366	NANDO:2201366	GJA1	http://identifiers.org/ncbigene/2697	2697	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4274	HGNC:4274	gap junction protein alpha 1	This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	GJB1	http://identifiers.org/ncbigene/2705	2705	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4283	HGNC:4283	gap junction protein beta 1	This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200855	NANDO:2200855	GJB1	http://identifiers.org/ncbigene/2705	2705	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4283	HGNC:4283	gap junction protein beta 1	This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200609	NANDO:1200609	GJB2	http://identifiers.org/ncbigene/2706	2706	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4284	HGNC:4284	gap junction protein beta 2	This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200995	NANDO:2200995	GJB2	http://identifiers.org/ncbigene/2706	2706	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4284	HGNC:4284	gap junction protein beta 2	This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200996	NANDO:2200996	GJB2	http://identifiers.org/ncbigene/2706	2706	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4284	HGNC:4284	gap junction protein beta 2	This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200995	NANDO:2200995	GJB6	http://identifiers.org/ncbigene/10804	10804	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4288	HGNC:4288	gap junction protein beta 6	Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200996	NANDO:2200996	GJB6	http://identifiers.org/ncbigene/10804	10804	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4288	HGNC:4288	gap junction protein beta 6	Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200575	NANDO:1200575	GJC2	http://identifiers.org/ncbigene/57165	57165	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17494	HGNC:17494	gap junction protein gamma 2	This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200577	NANDO:1200577	GJC2	http://identifiers.org/ncbigene/57165	57165	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17494	HGNC:17494	gap junction protein gamma 2	This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200836	NANDO:2200836	GJC2	http://identifiers.org/ncbigene/57165	57165	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17494	HGNC:17494	gap junction protein gamma 2	This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200505	NANDO:2200505	GK	http://identifiers.org/ncbigene/2710	2710	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4289	HGNC:4289	glycerol kinase	The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations in this gene are associated with glycerol kinase deficiency (GKD). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	GLA	http://identifiers.org/ncbigene/2717	2717	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4296	HGNC:4296	galactosidase alpha	This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200157	NANDO:1200157	GLA	http://identifiers.org/ncbigene/2717	2717	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4296	HGNC:4296	galactosidase alpha	This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200563	NANDO:2200563	GLA	http://identifiers.org/ncbigene/2717	2717	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4296	HGNC:4296	galactosidase alpha	This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	GLB1	http://identifiers.org/ncbigene/2720	2720	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4298	HGNC:4298	galactosidase beta 1	This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_1200066	NANDO:1200066	GLB1	http://identifiers.org/ncbigene/2720	2720	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4298	HGNC:4298	galactosidase beta 1	This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_1200105	NANDO:1200105	GLB1	http://identifiers.org/ncbigene/2720	2720	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4298	HGNC:4298	galactosidase beta 1	This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_1200107	NANDO:1200107	GLB1	http://identifiers.org/ncbigene/2720	2720	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4298	HGNC:4298	galactosidase beta 1	This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_2200550	NANDO:2200550	GLB1	http://identifiers.org/ncbigene/2720	2720	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4298	HGNC:4298	galactosidase beta 1	This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_2200558	NANDO:2200558	GLB1	http://identifiers.org/ncbigene/2720	2720	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4298	HGNC:4298	galactosidase beta 1	This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]
http://nanbyodata.jp/ontology/NANDO_1200984	NANDO:1200984	GLDC	http://identifiers.org/ncbigene/2731	2731	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4313	HGNC:4313	glycine decarboxylase	Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the P protein, which binds to glycine and enables the methylamine group from glycine to be transferred to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH).[provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_1200985	NANDO:1200985	GLDC	http://identifiers.org/ncbigene/2731	2731	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4313	HGNC:4313	glycine decarboxylase	Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the P protein, which binds to glycine and enables the methylamine group from glycine to be transferred to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH).[provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_1200986	NANDO:1200986	GLDC	http://identifiers.org/ncbigene/2731	2731	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4313	HGNC:4313	glycine decarboxylase	Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the P protein, which binds to glycine and enables the methylamine group from glycine to be transferred to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH).[provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_2200476	NANDO:2200476	GLDC	http://identifiers.org/ncbigene/2731	2731	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4313	HGNC:4313	glycine decarboxylase	Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the P protein, which binds to glycine and enables the methylamine group from glycine to be transferred to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH).[provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_2201401	NANDO:2201401	GLI3	http://identifiers.org/ncbigene/2737	2737	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4319	HGNC:4319	GLI family zinc finger 3	This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	GLIS2	http://identifiers.org/ncbigene/84662	84662	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29450	HGNC:29450	GLIS family zinc finger 2	This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expressed at low levels in the neural tube and peripheral nervous system and likely promotes neuronal differentiation. It is abundantly expressed in the kidney and may have a role in the regulation of kidney morphogenesis. p120 regulates the expression level of this protein and induces the cleavage of this protein's C-terminal zinc finger domain. This protein also promotes the nuclear translocation of p120. Mutations in this gene cause nephronophthisis (NPHP), an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial lymphohistiocytic cell infiltration, and development of cysts at the corticomedullary border of the kidneys.[provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_2200140	NANDO:2200140	GLIS2	http://identifiers.org/ncbigene/84662	84662	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29450	HGNC:29450	GLIS family zinc finger 2	This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expressed at low levels in the neural tube and peripheral nervous system and likely promotes neuronal differentiation. It is abundantly expressed in the kidney and may have a role in the regulation of kidney morphogenesis. p120 regulates the expression level of this protein and induces the cleavage of this protein's C-terminal zinc finger domain. This protein also promotes the nuclear translocation of p120. Mutations in this gene cause nephronophthisis (NPHP), an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial lymphohistiocytic cell infiltration, and development of cysts at the corticomedullary border of the kidneys.[provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_2200463	NANDO:2200463	GLIS3	http://identifiers.org/ncbigene/169792	169792	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28510	HGNC:28510	GLIS family zinc finger 3	This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201435	NANDO:2201435	GLIS3	http://identifiers.org/ncbigene/169792	169792	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28510	HGNC:28510	GLIS family zinc finger 3	This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201028	NANDO:2201028	GLMN	http://identifiers.org/ncbigene/11146	11146	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14373	HGNC:14373	glomulin, FKBP associated protein	This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_1200892	NANDO:1200892	GLRX5	http://identifiers.org/ncbigene/51218	51218	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20134	HGNC:20134	glutaredoxin 5	This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. [provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2200399	NANDO:2200399	GLUD1	http://identifiers.org/ncbigene/2746	2746	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4335	HGNC:4335	glutamate dehydrogenase 1	This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	GM2A	http://identifiers.org/ncbigene/2760	2760	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4367	HGNC:4367	GM2 ganglioside activator	This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_1200070	NANDO:1200070	GM2A	http://identifiers.org/ncbigene/2760	2760	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4367	HGNC:4367	GM2 ganglioside activator	This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_2200559	NANDO:2200559	GM2A	http://identifiers.org/ncbigene/2760	2760	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4367	HGNC:4367	GM2 ganglioside activator	This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_1200021	NANDO:1200021	GMPPB	http://identifiers.org/ncbigene/29925	29925	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22932	HGNC:22932	GDP-mannose pyrophosphorylase B	This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2009]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	GMPPB	http://identifiers.org/ncbigene/29925	29925	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22932	HGNC:22932	GDP-mannose pyrophosphorylase B	This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2009]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	GNAL	http://identifiers.org/ncbigene/2774	2774	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4388	HGNC:4388	G protein subunit alpha L	This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
http://nanbyodata.jp/ontology/NANDO_1200606	NANDO:1200606	GNAQ	http://identifiers.org/ncbigene/2776	2776	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4390	HGNC:4390	G protein subunit alpha q	This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]
http://nanbyodata.jp/ontology/NANDO_2200830	NANDO:2200830	GNAQ	http://identifiers.org/ncbigene/2776	2776	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4390	HGNC:4390	G protein subunit alpha q	This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]
http://nanbyodata.jp/ontology/NANDO_1200776	NANDO:1200776	GNAS	http://identifiers.org/ncbigene/2778	2778	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4392	HGNC:4392	GNAS complex locus	This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_2200314	NANDO:2200314	GNAS	http://identifiers.org/ncbigene/2778	2778	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4392	HGNC:4392	GNAS complex locus	This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_2200315	NANDO:2200315	GNAS	http://identifiers.org/ncbigene/2778	2778	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4392	HGNC:4392	GNAS complex locus	This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_2200348	NANDO:2200348	GNAS	http://identifiers.org/ncbigene/2778	2778	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4392	HGNC:4392	GNAS complex locus	This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_2200349	NANDO:2200349	GNAS	http://identifiers.org/ncbigene/2778	2778	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4392	HGNC:4392	GNAS complex locus	This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_2200412	NANDO:2200412	GNAS	http://identifiers.org/ncbigene/2778	2778	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4392	HGNC:4392	GNAS complex locus	This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	GNB4	http://identifiers.org/ncbigene/59345	59345	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20731	HGNC:20731	G protein subunit beta 4	Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200216	NANDO:1200216	GNE	http://identifiers.org/ncbigene/10020	10020	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23657	HGNC:23657	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200218	NANDO:1200218	GNE	http://identifiers.org/ncbigene/10020	10020	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23657	HGNC:23657	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200758	NANDO:1200758	GNPAT	http://identifiers.org/ncbigene/8443	8443	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4416	HGNC:4416	glyceronephosphate O-acyltransferase	This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200771	NANDO:1200771	GNPAT	http://identifiers.org/ncbigene/8443	8443	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4416	HGNC:4416	glyceronephosphate O-acyltransferase	This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	GNPTAB	http://identifiers.org/ncbigene/79158	79158	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29670	HGNC:29670	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_1200123	NANDO:1200123	GNPTAB	http://identifiers.org/ncbigene/79158	79158	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29670	HGNC:29670	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2200567	NANDO:2200567	GNPTAB	http://identifiers.org/ncbigene/79158	79158	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29670	HGNC:29670	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2200568	NANDO:2200568	GNPTAB	http://identifiers.org/ncbigene/79158	79158	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29670	HGNC:29670	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	GNPTG	http://identifiers.org/ncbigene/84572	84572	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23026	HGNC:23026	N-acetylglucosamine-1-phosphate transferase subunit gamma	This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1200123	NANDO:1200123	GNPTG	http://identifiers.org/ncbigene/84572	84572	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23026	HGNC:23026	N-acetylglucosamine-1-phosphate transferase subunit gamma	This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2200567	NANDO:2200567	GNPTG	http://identifiers.org/ncbigene/84572	84572	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23026	HGNC:23026	N-acetylglucosamine-1-phosphate transferase subunit gamma	This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2200568	NANDO:2200568	GNPTG	http://identifiers.org/ncbigene/84572	84572	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23026	HGNC:23026	N-acetylglucosamine-1-phosphate transferase subunit gamma	This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	GNS	http://identifiers.org/ncbigene/2799	2799	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4422	HGNC:4422	glucosamine (N-acetyl)-6-sulfatase	The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200100	NANDO:1200100	GNS	http://identifiers.org/ncbigene/2799	2799	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4422	HGNC:4422	glucosamine (N-acetyl)-6-sulfatase	The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200104	NANDO:1200104	GNS	http://identifiers.org/ncbigene/2799	2799	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4422	HGNC:4422	glucosamine (N-acetyl)-6-sulfatase	The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200549	NANDO:2200549	GNS	http://identifiers.org/ncbigene/2799	2799	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4422	HGNC:4422	glucosamine (N-acetyl)-6-sulfatase	The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200656	NANDO:2200656	GP1BA	http://identifiers.org/ncbigene/2811	2811	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4439	HGNC:4439	glycoprotein Ib platelet subunit alpha	Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013]
http://nanbyodata.jp/ontology/NANDO_2200659	NANDO:2200659	GP1BA	http://identifiers.org/ncbigene/2811	2811	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4439	HGNC:4439	glycoprotein Ib platelet subunit alpha	Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013]
http://nanbyodata.jp/ontology/NANDO_2200668	NANDO:2200668	GP1BA	http://identifiers.org/ncbigene/2811	2811	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4439	HGNC:4439	glycoprotein Ib platelet subunit alpha	Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013]
http://nanbyodata.jp/ontology/NANDO_2200656	NANDO:2200656	GP1BB	http://identifiers.org/ncbigene/2812	2812	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4440	HGNC:4440	glycoprotein Ib platelet subunit beta	Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von Willebrand factor (VWF), and mediates platelet adhesion in the arterial circulation. GPIb alpha chain provides the VWF binding site, and GPIb beta contributes to surface expression of the receptor and participates in transmembrane signaling through phosphorylation of its intracellular domain. Mutations in the GPIb beta subunit have been associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. The 206 amino acid precursor of GPIb beta is synthesized from a 1.0 kb mRNA expressed in plateletes and megakaryocytes. A 411 amino acid protein arising from a longer, unspliced transcript in endothelial cells has been described; however, the authenticity of this product has been questioned. Yet another less abundant GPIb beta mRNA species of 3.5 kb, expressed in nonhematopoietic tissues such as endothelium, brain and heart, was shown to result from inefficient usage of a non-consensus polyA signal in the neighboring upstream gene (SEPT5, septin 5). In the absence of polyadenylation from its own imperfect site, the SEPT5 gene produces read-through transcripts that use the consensus polyA signal of this gene. [provided by RefSeq, Dec 2010]
http://nanbyodata.jp/ontology/NANDO_2200659	NANDO:2200659	GP6	http://identifiers.org/ncbigene/51206	51206	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14388	HGNC:14388	glycoprotein VI platelet	This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a receptor for collagen and plays a critical role in collagen-induced platelet aggregation and thrombus formation. The encoded protein forms a complex with the Fc receptor gamma-chain that initiates the platelet activation signaling cascade upon collagen binding. Mutations in this gene are a cause of platelet-type bleeding disorder-11 (BDPLT11). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_2200670	NANDO:2200670	GP6	http://identifiers.org/ncbigene/51206	51206	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14388	HGNC:14388	glycoprotein VI platelet	This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a receptor for collagen and plays a critical role in collagen-induced platelet aggregation and thrombus formation. The encoded protein forms a complex with the Fc receptor gamma-chain that initiates the platelet activation signaling cascade upon collagen binding. Mutations in this gene are a cause of platelet-type bleeding disorder-11 (BDPLT11). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_2200656	NANDO:2200656	GP9	http://identifiers.org/ncbigene/2815	2815	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4444	HGNC:4444	glycoprotein IX platelet	This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large platelets and have a clinical bleeding tendency. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	GPAA1	http://identifiers.org/ncbigene/8733	8733	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4446	HGNC:4446	glycosylphosphatidylinositol anchor attachment 1	Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mRNA transcript is ubiquitously expressed in both fetal and adult tissues. The anchor attachment protein 1 contains an N-terminal signal sequence, 1 cAMP- and cGMP-dependent protein kinase phosphorylation site, 1 leucine zipper pattern, 2 potential N-glycosylation sites, and 8 putative transmembrane domains. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	GPAA1	http://identifiers.org/ncbigene/8733	8733	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4446	HGNC:4446	glycosylphosphatidylinositol anchor attachment 1	Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mRNA transcript is ubiquitously expressed in both fetal and adult tissues. The anchor attachment protein 1 contains an N-terminal signal sequence, 1 cAMP- and cGMP-dependent protein kinase phosphorylation site, 1 leucine zipper pattern, 2 potential N-glycosylation sites, and 8 putative transmembrane domains. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200978	NANDO:2200978	GPC3	http://identifiers.org/ncbigene/2719	2719	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4451	HGNC:4451	glypican 3	Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The protein encoded by this gene can bind to and inhibit the dipeptidyl peptidase activity of CD26, and it can induce apoptosis in certain cell types. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200855	NANDO:1200855	GPIHBP1	http://identifiers.org/ncbigene/338328	338328	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24945	HGNC:24945	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	This gene encodes a capillary endothelial cell protein that facilitates the lipolytic processing of triglyceride-rich lipoproteins. The encoded protein is a glycosylphosphatidylinositol-anchored protein that is a member of the lymphocyte antigen 6 (Ly6) family. This protein plays a major role in transporting lipoprotein lipase (LPL) from the subendothelial spaces to the capillary lumen. Mutations in this gene are the cause of hyperlipoproteinemia, type 1D. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
http://nanbyodata.jp/ontology/NANDO_2200601	NANDO:2200601	GPIHBP1	http://identifiers.org/ncbigene/338328	338328	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24945	HGNC:24945	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	This gene encodes a capillary endothelial cell protein that facilitates the lipolytic processing of triglyceride-rich lipoproteins. The encoded protein is a glycosylphosphatidylinositol-anchored protein that is a member of the lymphocyte antigen 6 (Ly6) family. This protein plays a major role in transporting lipoprotein lipase (LPL) from the subendothelial spaces to the capillary lumen. Mutations in this gene are the cause of hyperlipoproteinemia, type 1D. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
http://nanbyodata.jp/ontology/NANDO_2200503	NANDO:2200503	GRHPR	http://identifiers.org/ncbigene/9380	9380	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4570	HGNC:4570	glyoxylate and hydroxypyruvate reductase	This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in metabolism. Type II hyperoxaluria is caused by mutations in this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200601	NANDO:1200601	GRIN2A	http://identifiers.org/ncbigene/2903	2903	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4585	HGNC:4585	glutamate ionotropic receptor NMDA type subunit 2A	This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_2201402	NANDO:2201402	GRIN2A	http://identifiers.org/ncbigene/2903	2903	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4585	HGNC:4585	glutamate ionotropic receptor NMDA type subunit 2A	This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_2201400	NANDO:2201400	GRIN2B	http://identifiers.org/ncbigene/2904	2904	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4586	HGNC:4586	glutamate ionotropic receptor NMDA type subunit 2B	This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel which acts as an agonist binding site for glutamate. The NMDA receptors mediate a slow calcium-permeable component of excitatory synaptic transmission in the central nervous system. The NMDA receptors are heterotetramers of seven genetically encoded, differentially expressed subunits including NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The early expression of this gene in development suggests a role in brain development, circuit formation, synaptic plasticity, and cellular migration and differentiation. Naturally occurring mutations within this gene are associated with neurodevelopmental disorders including autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, and schizophrenia. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200548	NANDO:1200548	GRN	http://identifiers.org/ncbigene/2896	2896	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4601	HGNC:4601	granulin precursor	Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein, progranulin, is also called proepithelin and PC cell-derived growth factor. Cleavage of the signal peptide produces mature granulin which can be further cleaved into a variety of active, 6 kDa peptides. These smaller cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with granulins A and B, respectively. Both the peptides and intact granulin protein regulate cell growth. However, different members of the granulin protein family may act as inhibitors, stimulators, or have dual actions on cell growth. Granulin family members are important in normal development, wound healing, and tumorigenesis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200209	NANDO:1200209	GSN	http://identifiers.org/ncbigene/2934	2934	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4620	HGNC:4620	gelsolin	"The protein encoded by this gene binds to the ""plus"" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]"
http://nanbyodata.jp/ontology/NANDO_1200213	NANDO:1200213	GSN	http://identifiers.org/ncbigene/2934	2934	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4620	HGNC:4620	gelsolin	"The protein encoded by this gene binds to the ""plus"" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]"
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	GUSB	http://identifiers.org/ncbigene/2990	2990	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4696	HGNC:4696	glucuronidase beta	This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_1200111	NANDO:1200111	GUSB	http://identifiers.org/ncbigene/2990	2990	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4696	HGNC:4696	glucuronidase beta	This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_2200552	NANDO:2200552	GUSB	http://identifiers.org/ncbigene/2990	2990	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4696	HGNC:4696	glucuronidase beta	This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_1200823	NANDO:1200823	GYG1	http://identifiers.org/ncbigene/2992	2992	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4699	HGNC:4699	glycogenin 1	This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
http://nanbyodata.jp/ontology/NANDO_1200837	NANDO:1200837	GYG1	http://identifiers.org/ncbigene/2992	2992	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4699	HGNC:4699	glycogenin 1	This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
http://nanbyodata.jp/ontology/NANDO_1200823	NANDO:1200823	GYS1	http://identifiers.org/ncbigene/2997	2997	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4706	HGNC:4706	glycogen synthase 1	The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200824	NANDO:1200824	GYS1	http://identifiers.org/ncbigene/2997	2997	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4706	HGNC:4706	glycogen synthase 1	The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2200537	NANDO:2200537	GYS1	http://identifiers.org/ncbigene/2997	2997	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4706	HGNC:4706	glycogen synthase 1	The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2201152	NANDO:2201152	GYS1	http://identifiers.org/ncbigene/2997	2997	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4706	HGNC:4706	glycogen synthase 1	The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2200537	NANDO:2200537	GYS2	http://identifiers.org/ncbigene/2998	2998	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4707	HGNC:4707	glycogen synthase 2	The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content. [provided by RefSeq, Dec 2009]
http://nanbyodata.jp/ontology/NANDO_2201151	NANDO:2201151	GYS2	http://identifiers.org/ncbigene/2998	2998	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4707	HGNC:4707	glycogen synthase 2	The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content. [provided by RefSeq, Dec 2009]
http://nanbyodata.jp/ontology/NANDO_2200051	NANDO:2200051	H3-3B	http://identifiers.org/ncbigene/3021	3021	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4765	HGNC:4765	H3.3 histone B	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded by this gene is a replication-independent histone that is a member of the histone H3 family. Pseudogenes of this gene have been identified on the X chromosome, and on chromosomes 5, 13 and 17. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_2200399	NANDO:2200399	HADH	http://identifiers.org/ncbigene/3033	3033	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4799	HGNC:4799	hydroxyacyl-CoA dehydrogenase	This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2200516	NANDO:2200516	HADH	http://identifiers.org/ncbigene/3033	3033	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4799	HGNC:4799	hydroxyacyl-CoA dehydrogenase	This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_1200974	NANDO:1200974	HADHA	http://identifiers.org/ncbigene/3030	3030	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4801	HGNC:4801	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200515	NANDO:2200515	HADHA	http://identifiers.org/ncbigene/3030	3030	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4801	HGNC:4801	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200974	NANDO:1200974	HADHB	http://identifiers.org/ncbigene/3032	3032	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4803	HGNC:4803	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta	This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_2200515	NANDO:2200515	HADHB	http://identifiers.org/ncbigene/3032	3032	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4803	HGNC:4803	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta	This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	HARS1	http://identifiers.org/ncbigene/3035	3035	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4816	HGNC:4816	histidyl-tRNA synthetase 1	Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases. The enzyme is responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of histidine into proteins. The gene is located in a head-to-head orientation with HARSL on chromosome five, where the homologous genes share a bidirectional promoter. The gene product is a frequent target of autoantibodies in the human autoimmune disease polymyositis/dermatomyositis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	HAX1	http://identifiers.org/ncbigene/10456	10456	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16915	HGNC:16915	HCLS1 associated protein X-1	The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200353	NANDO:1200353	HAX1	http://identifiers.org/ncbigene/10456	10456	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16915	HGNC:16915	HCLS1 associated protein X-1	The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200745	NANDO:2200745	HAX1	http://identifiers.org/ncbigene/10456	10456	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16915	HGNC:16915	HCLS1 associated protein X-1	The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200624	NANDO:2200624	HBB	http://identifiers.org/ncbigene/3043	3043	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4827	HGNC:4827	hemoglobin subunit beta	The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200212	NANDO:2200212	HCN4	http://identifiers.org/ncbigene/10021	10021	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16882	HGNC:16882	hyperpolarization activated cyclic nucleotide gated potassium channel 4	This gene encodes a member of the hyperpolarization-activated cyclic nucleotide-gated potassium channels. The encoded protein shows slow kinetics of activation and inactivation, and is necessary for the cardiac pacemaking process. This channel may also mediate responses to sour stimuli. Mutations in this gene have been linked to sick sinus syndrome 2, also known as atrial fibrillation with bradyarrhythmia or familial sinus bradycardia. Two pseudogenes have been identified on chromosome 15. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200957	NANDO:1200957	HDAC8	http://identifiers.org/ncbigene/55869	55869	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13315	HGNC:13315	histone deacetylase 8	Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class I of the histone deacetylase family. It catalyzes the deacetylation of lysine residues in the histone N-terminal tails and represses transcription in large multiprotein complexes with transcriptional co-repressors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200960	NANDO:1200960	HDAC8	http://identifiers.org/ncbigene/55869	55869	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13315	HGNC:13315	histone deacetylase 8	Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class I of the histone deacetylase family. It catalyzes the deacetylation of lysine residues in the histone N-terminal tails and represses transcription in large multiprotein complexes with transcriptional co-repressors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2200958	NANDO:2200958	HDAC8	http://identifiers.org/ncbigene/55869	55869	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13315	HGNC:13315	histone deacetylase 8	Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class I of the histone deacetylase family. It catalyzes the deacetylation of lysine residues in the histone N-terminal tails and represses transcription in large multiprotein complexes with transcriptional co-repressors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200949	NANDO:1200949	HEPACAM	http://identifiers.org/ncbigene/220296	220296	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26361	HGNC:26361	hepatic and glial cell adhesion molecule	The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated or undetectable in many cancer cell lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011]
http://nanbyodata.jp/ontology/NANDO_1200950	NANDO:1200950	HEPACAM	http://identifiers.org/ncbigene/220296	220296	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26361	HGNC:26361	hepatic and glial cell adhesion molecule	The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated or undetectable in many cancer cell lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011]
http://nanbyodata.jp/ontology/NANDO_2200837	NANDO:2200837	HEPACAM	http://identifiers.org/ncbigene/220296	220296	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26361	HGNC:26361	hepatic and glial cell adhesion molecule	The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated or undetectable in many cancer cell lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011]
http://nanbyodata.jp/ontology/NANDO_1200560	NANDO:1200560	HESX1	http://identifiers.org/ncbigene/8820	8820	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4877	HGNC:4877	HESX homeobox 1	This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200312	NANDO:2200312	HESX1	http://identifiers.org/ncbigene/8820	8820	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4877	HGNC:4877	HESX homeobox 1	This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200820	NANDO:2200820	HESX1	http://identifiers.org/ncbigene/8820	8820	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4877	HGNC:4877	HESX homeobox 1	This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	HEXA	http://identifiers.org/ncbigene/3073	3073	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4878	HGNC:4878	hexosaminidase subunit alpha	This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1200070	NANDO:1200070	HEXA	http://identifiers.org/ncbigene/3073	3073	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4878	HGNC:4878	hexosaminidase subunit alpha	This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1200071	NANDO:1200071	HEXA	http://identifiers.org/ncbigene/3073	3073	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4878	HGNC:4878	hexosaminidase subunit alpha	This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_2200559	NANDO:2200559	HEXA	http://identifiers.org/ncbigene/3073	3073	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4878	HGNC:4878	hexosaminidase subunit alpha	This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_2201199	NANDO:2201199	HEXA	http://identifiers.org/ncbigene/3073	3073	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4878	HGNC:4878	hexosaminidase subunit alpha	This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	HEXB	http://identifiers.org/ncbigene/3074	3074	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4879	HGNC:4879	hexosaminidase subunit beta	Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_1200070	NANDO:1200070	HEXB	http://identifiers.org/ncbigene/3074	3074	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4879	HGNC:4879	hexosaminidase subunit beta	Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_1200072	NANDO:1200072	HEXB	http://identifiers.org/ncbigene/3074	3074	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4879	HGNC:4879	hexosaminidase subunit beta	Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_2200559	NANDO:2200559	HEXB	http://identifiers.org/ncbigene/3074	3074	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4879	HGNC:4879	hexosaminidase subunit beta	Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_2201200	NANDO:2201200	HEXB	http://identifiers.org/ncbigene/3074	3074	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4879	HGNC:4879	hexosaminidase subunit beta	Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_2200504	NANDO:2200504	HGD	http://identifiers.org/ncbigene/3081	3081	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4892	HGNC:4892	homogentisate 1,2-dioxygenase	This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	HGSNAT	http://identifiers.org/ncbigene/138050	138050	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26527	HGNC:26527	heparan-alpha-glucosaminide N-acetyltransferase	This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]
http://nanbyodata.jp/ontology/NANDO_1200100	NANDO:1200100	HGSNAT	http://identifiers.org/ncbigene/138050	138050	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26527	HGNC:26527	heparan-alpha-glucosaminide N-acetyltransferase	This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]
http://nanbyodata.jp/ontology/NANDO_1200103	NANDO:1200103	HGSNAT	http://identifiers.org/ncbigene/138050	138050	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26527	HGNC:26527	heparan-alpha-glucosaminide N-acetyltransferase	This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]
http://nanbyodata.jp/ontology/NANDO_2200549	NANDO:2200549	HGSNAT	http://identifiers.org/ncbigene/138050	138050	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26527	HGNC:26527	heparan-alpha-glucosaminide N-acetyltransferase	This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	HINT1	http://identifiers.org/ncbigene/3094	3094	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4912	HGNC:4912	histidine triad nucleotide binding protein 1	This gene encodes a protein that hydrolyzes purine nucleotide phosphoramidates substrates, including AMP-morpholidate, AMP-N-alanine methyl ester, AMP-alpha-acetyl lysine methyl ester, and AMP-NH2. The encoded protein interacts with these substrates via a histidine triad motif. This gene is considered a tumor suppressor gene. In addition, mutations in this gene can cause autosomal recessive neuromyotonia and axonal neuropathy. There are several related pseudogenes on chromosome 7. Several transcript variants have been observed. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_2200855	NANDO:2200855	HK1	http://identifiers.org/ncbigene/3098	3098	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4922	HGNC:4922	hexokinase 1	Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016]
http://nanbyodata.jp/ontology/NANDO_2200415	NANDO:2200415	HLA-A	http://identifiers.org/ncbigene/3105	3105	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4931	HGNC:4931	major histocompatibility complex, class I, A	HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen so that they can be recognized by cytotoxic T cells. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. More than 6000 HLA-A alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_2200422	NANDO:2200422	HLA-A	http://identifiers.org/ncbigene/3105	3105	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4931	HGNC:4931	major histocompatibility complex, class I, A	HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen so that they can be recognized by cytotoxic T cells. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. More than 6000 HLA-A alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_2200428	NANDO:2200428	HLA-A	http://identifiers.org/ncbigene/3105	3105	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4931	HGNC:4931	major histocompatibility complex, class I, A	HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen so that they can be recognized by cytotoxic T cells. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. More than 6000 HLA-A alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_2201006	NANDO:2201006	HLA-A	http://identifiers.org/ncbigene/3105	3105	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4931	HGNC:4931	major histocompatibility complex, class I, A	HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen so that they can be recognized by cytotoxic T cells. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. More than 6000 HLA-A alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_1200251	NANDO:1200251	HLA-B	http://identifiers.org/ncbigene/3106	3106	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4932	HGNC:4932	major histocompatibility complex, class I, B	HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200284	NANDO:1200284	HLA-B	http://identifiers.org/ncbigene/3106	3106	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4932	HGNC:4932	major histocompatibility complex, class I, B	HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200870	NANDO:1200870	HLA-B	http://identifiers.org/ncbigene/3106	3106	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4932	HGNC:4932	major histocompatibility complex, class I, B	HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200415	NANDO:2200415	HLA-B	http://identifiers.org/ncbigene/3106	3106	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4932	HGNC:4932	major histocompatibility complex, class I, B	HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200422	NANDO:2200422	HLA-B	http://identifiers.org/ncbigene/3106	3106	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4932	HGNC:4932	major histocompatibility complex, class I, B	HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200423	NANDO:2200423	HLA-B	http://identifiers.org/ncbigene/3106	3106	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4932	HGNC:4932	major histocompatibility complex, class I, B	HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200428	NANDO:2200428	HLA-B	http://identifiers.org/ncbigene/3106	3106	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4932	HGNC:4932	major histocompatibility complex, class I, B	HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201006	NANDO:2201006	HLA-B	http://identifiers.org/ncbigene/3106	3106	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4932	HGNC:4932	major histocompatibility complex, class I, B	HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200263	NANDO:1200263	HLA-DPB1	http://identifiers.org/ncbigene/3115	3115	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4940	HGNC:4940	major histocompatibility complex, class II, DP beta 1	HLA-DPB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta chain (DPB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200415	NANDO:2200415	HLA-DQA1	http://identifiers.org/ncbigene/3117	3117	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4942	HGNC:4942	major histocompatibility complex, class II, DQ alpha 1	HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B Lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200422	NANDO:2200422	HLA-DQA1	http://identifiers.org/ncbigene/3117	3117	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4942	HGNC:4942	major histocompatibility complex, class II, DQ alpha 1	HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B Lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200428	NANDO:2200428	HLA-DQA1	http://identifiers.org/ncbigene/3117	3117	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4942	HGNC:4942	major histocompatibility complex, class II, DQ alpha 1	HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B Lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200415	NANDO:2200415	HLA-DQB1	http://identifiers.org/ncbigene/3119	3119	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4944	HGNC:4944	major histocompatibility complex, class II, DQ beta 1	HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
http://nanbyodata.jp/ontology/NANDO_2200422	NANDO:2200422	HLA-DQB1	http://identifiers.org/ncbigene/3119	3119	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4944	HGNC:4944	major histocompatibility complex, class II, DQ beta 1	HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
http://nanbyodata.jp/ontology/NANDO_2200426	NANDO:2200426	HLA-DQB1	http://identifiers.org/ncbigene/3119	3119	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4944	HGNC:4944	major histocompatibility complex, class II, DQ beta 1	HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
http://nanbyodata.jp/ontology/NANDO_2200428	NANDO:2200428	HLA-DQB1	http://identifiers.org/ncbigene/3119	3119	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4944	HGNC:4944	major histocompatibility complex, class II, DQ beta 1	HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
http://nanbyodata.jp/ontology/NANDO_2200415	NANDO:2200415	HLA-DRA	http://identifiers.org/ncbigene/3122	3122	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4947	HGNC:4947	major histocompatibility complex, class II, DR alpha	HLA-DRA is one of the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha and a beta chain, both anchored in the membrane. This molecule is expressed on the surface of various antigen presenting cells such as B lymphocytes, dendritic cells, and monocytes/macrophages, and plays a central role in the immune system and response by presenting peptides derived from extracellular proteins, in particular, pathogen-derived peptides to T cells. The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_2200422	NANDO:2200422	HLA-DRA	http://identifiers.org/ncbigene/3122	3122	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4947	HGNC:4947	major histocompatibility complex, class II, DR alpha	HLA-DRA is one of the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha and a beta chain, both anchored in the membrane. This molecule is expressed on the surface of various antigen presenting cells such as B lymphocytes, dendritic cells, and monocytes/macrophages, and plays a central role in the immune system and response by presenting peptides derived from extracellular proteins, in particular, pathogen-derived peptides to T cells. The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_2200428	NANDO:2200428	HLA-DRA	http://identifiers.org/ncbigene/3122	3122	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4947	HGNC:4947	major histocompatibility complex, class II, DR alpha	HLA-DRA is one of the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha and a beta chain, both anchored in the membrane. This molecule is expressed on the surface of various antigen presenting cells such as B lymphocytes, dendritic cells, and monocytes/macrophages, and plays a central role in the immune system and response by presenting peptides derived from extracellular proteins, in particular, pathogen-derived peptides to T cells. The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_1200258	NANDO:1200258	HLA-DRB1	http://identifiers.org/ncbigene/3123	3123	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4948	HGNC:4948	major histocompatibility complex, class II, DR beta 1	HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_1200262	NANDO:1200262	HLA-DRB1	http://identifiers.org/ncbigene/3123	3123	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4948	HGNC:4948	major histocompatibility complex, class II, DR beta 1	HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_1200265	NANDO:1200265	HLA-DRB1	http://identifiers.org/ncbigene/3123	3123	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4948	HGNC:4948	major histocompatibility complex, class II, DR beta 1	HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_1200415	NANDO:1200415	HLA-DRB1	http://identifiers.org/ncbigene/3123	3123	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4948	HGNC:4948	major histocompatibility complex, class II, DR beta 1	HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_2200347	NANDO:2200347	HLA-DRB1	http://identifiers.org/ncbigene/3123	3123	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4948	HGNC:4948	major histocompatibility complex, class II, DR beta 1	HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_2200415	NANDO:2200415	HLA-DRB1	http://identifiers.org/ncbigene/3123	3123	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4948	HGNC:4948	major histocompatibility complex, class II, DR beta 1	HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_2200422	NANDO:2200422	HLA-DRB1	http://identifiers.org/ncbigene/3123	3123	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4948	HGNC:4948	major histocompatibility complex, class II, DR beta 1	HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_2200424	NANDO:2200424	HLA-DRB1	http://identifiers.org/ncbigene/3123	3123	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4948	HGNC:4948	major histocompatibility complex, class II, DR beta 1	HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_2200426	NANDO:2200426	HLA-DRB1	http://identifiers.org/ncbigene/3123	3123	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4948	HGNC:4948	major histocompatibility complex, class II, DR beta 1	HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_2200428	NANDO:2200428	HLA-DRB1	http://identifiers.org/ncbigene/3123	3123	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4948	HGNC:4948	major histocompatibility complex, class II, DR beta 1	HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_1200820	NANDO:1200820	HLCS	http://identifiers.org/ncbigene/3141	3141	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4976	HGNC:4976	holocarboxylase synthetase	This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011]
http://nanbyodata.jp/ontology/NANDO_1200821	NANDO:1200821	HLCS	http://identifiers.org/ncbigene/3141	3141	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4976	HGNC:4976	holocarboxylase synthetase	This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011]
http://nanbyodata.jp/ontology/NANDO_2200500	NANDO:2200500	HLCS	http://identifiers.org/ncbigene/3141	3141	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4976	HGNC:4976	holocarboxylase synthetase	This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011]
http://nanbyodata.jp/ontology/NANDO_1200811	NANDO:1200811	HMBS	http://identifiers.org/ncbigene/3145	3145	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4982	HGNC:4982	hydroxymethylbilane synthase	This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200812	NANDO:1200812	HMBS	http://identifiers.org/ncbigene/3145	3145	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4982	HGNC:4982	hydroxymethylbilane synthase	This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200610	NANDO:2200610	HMBS	http://identifiers.org/ncbigene/3145	3145	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4982	HGNC:4982	hydroxymethylbilane synthase	This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201263	NANDO:2201263	HMBS	http://identifiers.org/ncbigene/3145	3145	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4982	HGNC:4982	hydroxymethylbilane synthase	This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200497	NANDO:2200497	HMGCL	http://identifiers.org/ncbigene/3155	3155	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5005	HGNC:5005	3-hydroxy-3-methylglutaryl-CoA lyase	The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2200498	NANDO:2200498	HMGCL	http://identifiers.org/ncbigene/3155	3155	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5005	HGNC:5005	3-hydroxy-3-methylglutaryl-CoA lyase	The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2200399	NANDO:2200399	HNF1A	http://identifiers.org/ncbigene/6927	6927	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11621	HGNC:11621	HNF1 homeobox A	The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
http://nanbyodata.jp/ontology/NANDO_2200463	NANDO:2200463	HNF1B	http://identifiers.org/ncbigene/6928	6928	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11630	HGNC:11630	HNF1 homeobox B	This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2201435	NANDO:2201435	HNF1B	http://identifiers.org/ncbigene/6928	6928	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11630	HGNC:11630	HNF1 homeobox B	This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2200462	NANDO:2200462	HNF1a	http://identifiers.org/ncbigene/6927	6927	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11621	HGNC:11621	HNF1 homeobox A	The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
http://nanbyodata.jp/ontology/NANDO_2201071	NANDO:2201071	HNF1a	http://identifiers.org/ncbigene/6927	6927	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11621	HGNC:11621	HNF1 homeobox A	The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
http://nanbyodata.jp/ontology/NANDO_2200462	NANDO:2200462	HNF1b	http://identifiers.org/ncbigene/6928	6928	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11630	HGNC:11630	HNF1 homeobox B	This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2201073	NANDO:2201073	HNF1b	http://identifiers.org/ncbigene/6928	6928	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11630	HGNC:11630	HNF1 homeobox B	This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2200399	NANDO:2200399	HNF4A	http://identifiers.org/ncbigene/3172	3172	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5024	HGNC:5024	hepatocyte nuclear factor 4 alpha	The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_2200460	NANDO:2200460	HNF4A	http://identifiers.org/ncbigene/3172	3172	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5024	HGNC:5024	hepatocyte nuclear factor 4 alpha	The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_2200462	NANDO:2200462	HNF4a	http://identifiers.org/ncbigene/3172	3172	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5024	HGNC:5024	hepatocyte nuclear factor 4 alpha	The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_2201069	NANDO:2201069	HNF4a	http://identifiers.org/ncbigene/3172	3172	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5024	HGNC:5024	hepatocyte nuclear factor 4 alpha	The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_2200503	NANDO:2200503	HOGA1	http://identifiers.org/ncbigene/112817	112817	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25155	HGNC:25155	4-hydroxy-2-oxoglutarate aldolase 1	The authors of PMID:20797690 cloned this gene while searching for genes in a region of chromosome 10 linked to primary hyperoxalurea type III. They noted that even though the encoded protein has been described as a mitochondrial dihydrodipicolinate synthase-like enzyme, it shares little homology with E. coli dihydrodipicolinate synthase (Dhdps), particularly in the putative substrate-binding region. Moreover, neither lysine biosynthesis nor sialic acid metabolism, for which Dhdps is responsible, occurs in vertebrate mitochondria. They propose that this gene encodes mitochondrial 4-hydroxyl-2-oxoglutarate aldolase (EC 4.1.3.16), which catalyzes the final step in the metabolic pathway of hydroxyproline, releasing glyoxylate and pyruvate. This gene is predominantly expressed in the liver and kidney, and mutations in this gene are found in patients with primary hyperoxalurea type III. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2010]
http://nanbyodata.jp/ontology/NANDO_2200659	NANDO:2200659	HOXA11	http://identifiers.org/ncbigene/3207	3207	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5101	HGNC:5101	homeobox A11	In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200660	NANDO:2200660	HOXA11	http://identifiers.org/ncbigene/3207	3207	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5101	HGNC:5101	homeobox A11	In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	HOXD13	http://identifiers.org/ncbigene/3239	3239	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5136	HGNC:5136	homeobox D13	This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. Mutations in this particular gene cause synpolydactyly. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	HPCA	http://identifiers.org/ncbigene/3208	3208	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5144	HGNC:5144	hippocalcin	The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. This protein is associated with the plasma membrane. It has similarities to proteins located in the photoreceptor cells that regulate photosignal transduction in a calcium-sensitive manner. This protein displays recoverin activity and a calcium-dependent inhibition of rhodopsin kinase. It is identical to the rat and mouse hippocalcin proteins and thought to play an important role in neurons of the central nervous system in a number of species. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200513	NANDO:1200513	HPCA	http://identifiers.org/ncbigene/3208	3208	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5144	HGNC:5144	hippocalcin	The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. This protein is associated with the plasma membrane. It has similarities to proteins located in the photoreceptor cells that regulate photosignal transduction in a calcium-sensitive manner. This protein displays recoverin activity and a calcium-dependent inhibition of rhodopsin kinase. It is identical to the rat and mouse hippocalcin proteins and thought to play an important role in neurons of the central nervous system in a number of species. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200790	NANDO:1200790	HPD	http://identifiers.org/ncbigene/3242	3242	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5147	HGNC:5147	4-hydroxyphenylpyruvate dioxygenase	The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_1200642	NANDO:1200642	HPGD	http://identifiers.org/ncbigene/3248	3248	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5154	HGNC:5154	15-hydroxyprostaglandin dehydrogenase	This gene encodes a member of the short-chain nonmetalloenzyme alcohol dehydrogenase protein family. The encoded enzyme is responsible for the metabolism of prostaglandins, which function in a variety of physiologic and cellular processes such as inflammation. Mutations in this gene result in primary autosomal recessive hypertrophic osteoarthropathy and cranioosteoarthropathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2201004	NANDO:2201004	HPGD	http://identifiers.org/ncbigene/3248	3248	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5154	HGNC:5154	15-hydroxyprostaglandin dehydrogenase	This gene encodes a member of the short-chain nonmetalloenzyme alcohol dehydrogenase protein family. The encoded enzyme is responsible for the metabolism of prostaglandins, which function in a variety of physiologic and cellular processes such as inflammation. Mutations in this gene result in primary autosomal recessive hypertrophic osteoarthropathy and cranioosteoarthropathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2200586	NANDO:2200586	HPRT1	http://identifiers.org/ncbigene/3251	3251	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5157	HGNC:5157	hypoxanthine phosphoribosyltransferase 1	The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009]
http://nanbyodata.jp/ontology/NANDO_1200637	NANDO:1200637	HPS1	http://identifiers.org/ncbigene/3257	3257	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5163	HGNC:5163	HPS1 biogenesis of lysosomal organelles complex 3 subunit 1	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]
http://nanbyodata.jp/ontology/NANDO_1200638	NANDO:1200638	HPS1	http://identifiers.org/ncbigene/3257	3257	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5163	HGNC:5163	HPS1 biogenesis of lysosomal organelles complex 3 subunit 1	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]
http://nanbyodata.jp/ontology/NANDO_2200986	NANDO:2200986	HPS1	http://identifiers.org/ncbigene/3257	3257	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5163	HGNC:5163	HPS1 biogenesis of lysosomal organelles complex 3 subunit 1	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]
http://nanbyodata.jp/ontology/NANDO_1200637	NANDO:1200637	HPS3	http://identifiers.org/ncbigene/84343	84343	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15597	HGNC:15597	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]
http://nanbyodata.jp/ontology/NANDO_1200638	NANDO:1200638	HPS3	http://identifiers.org/ncbigene/84343	84343	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15597	HGNC:15597	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]
http://nanbyodata.jp/ontology/NANDO_2200986	NANDO:2200986	HPS3	http://identifiers.org/ncbigene/84343	84343	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15597	HGNC:15597	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]
http://nanbyodata.jp/ontology/NANDO_1200637	NANDO:1200637	HPS4	http://identifiers.org/ncbigene/89781	89781	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15844	HGNC:15844	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_1200638	NANDO:1200638	HPS4	http://identifiers.org/ncbigene/89781	89781	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15844	HGNC:15844	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_2200986	NANDO:2200986	HPS4	http://identifiers.org/ncbigene/89781	89781	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15844	HGNC:15844	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_1200637	NANDO:1200637	HPS5	http://identifiers.org/ncbigene/11234	11234	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17022	HGNC:17022	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200638	NANDO:1200638	HPS5	http://identifiers.org/ncbigene/11234	11234	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17022	HGNC:17022	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200986	NANDO:2200986	HPS5	http://identifiers.org/ncbigene/11234	11234	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17022	HGNC:17022	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200637	NANDO:1200637	HPS6	http://identifiers.org/ncbigene/79803	79803	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18817	HGNC:18817	HPS6 biogenesis of lysosomal organelles complex 2 subunit 3	This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200638	NANDO:1200638	HPS6	http://identifiers.org/ncbigene/79803	79803	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18817	HGNC:18817	HPS6 biogenesis of lysosomal organelles complex 2 subunit 3	This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200986	NANDO:2200986	HPS6	http://identifiers.org/ncbigene/79803	79803	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18817	HGNC:18817	HPS6 biogenesis of lysosomal organelles complex 2 subunit 3	This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200463	NANDO:1200463	HRAS	http://identifiers.org/ncbigene/3265	3265	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5173	HGNC:5173	HRas proto-oncogene, GTPase	This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, cognitive disability, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200971	NANDO:2200971	HRAS	http://identifiers.org/ncbigene/3265	3265	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5173	HGNC:5173	HRas proto-oncogene, GTPase	This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, cognitive disability, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200362	NANDO:2200362	HSD11B2	http://identifiers.org/ncbigene/3291	3291	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5209	HGNC:5209	hydroxysteroid 11-beta dehydrogenase 2	There are at least two isozymes of the corticosteroid 11-beta-dehydrogenase, a microsomal enzyme complex responsible for the interconversion of cortisol and cortisone. The type I isozyme has both 11-beta-dehydrogenase (cortisol to cortisone) and 11-oxoreductase (cortisone to cortisol) activities. The type II isozyme, encoded by this gene, has only 11-beta-dehydrogenase activity. In aldosterone-selective epithelial tissues such as the kidney, the type II isozyme catalyzes the glucocorticoid cortisol to the inactive metabolite cortisone, thus preventing illicit activation of the mineralocorticoid receptor. In tissues that do not express the mineralocorticoid receptor, such as the placenta and testis, it protects cells from the growth-inhibiting and/or pro-apoptotic effects of cortisol, particularly during embryonic development. Mutations in this gene cause the syndrome of apparent mineralocorticoid excess and hypertension. [provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2200390	NANDO:2200390	HSD17b3	http://identifiers.org/ncbigene/3293	3293	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5212	HGNC:5212	hydroxysteroid 17-beta dehydrogenase 3	This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone.  It preferentially uses NADP as cofactor.  Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200396	NANDO:1200396	HSD3B2	http://identifiers.org/ncbigene/3284	3284	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5218	HGNC:5218	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200398	NANDO:1200398	HSD3B2	http://identifiers.org/ncbigene/3284	3284	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5218	HGNC:5218	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2200371	NANDO:2200371	HSD3B2	http://identifiers.org/ncbigene/3284	3284	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5218	HGNC:5218	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2200506	NANDO:2200506	HSD3B7	http://identifiers.org/ncbigene/80270	80270	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18324	HGNC:18324	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	HSPB1	http://identifiers.org/ncbigene/3315	3315	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5246	HGNC:5246	heat shock protein family B (small) member 1	This gene encodes a member of the small heat shock protein (HSP20) family of proteins. In response to environmental stress, the encoded protein translocates from the cytoplasm to the nucleus and functions as a molecular chaperone that promotes the correct folding of other proteins. This protein plays an important role in the differentiation of a wide variety of cell types. Expression of this gene is correlated with poor clinical outcome in multiple human cancers, and the encoded protein may promote cancer cell proliferation and metastasis, while protecting cancer cells from apoptosis. Mutations in this gene have been identified in human patients with Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200855	NANDO:2200855	HSPB1	http://identifiers.org/ncbigene/3315	3315	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5246	HGNC:5246	heat shock protein family B (small) member 1	This gene encodes a member of the small heat shock protein (HSP20) family of proteins. In response to environmental stress, the encoded protein translocates from the cytoplasm to the nucleus and functions as a molecular chaperone that promotes the correct folding of other proteins. This protein plays an important role in the differentiation of a wide variety of cell types. Expression of this gene is correlated with poor clinical outcome in multiple human cancers, and the encoded protein may promote cancer cell proliferation and metastasis, while protecting cancer cells from apoptosis. Mutations in this gene have been identified in human patients with Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	HSPB8	http://identifiers.org/ncbigene/26353	26353	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30171	HGNC:30171	heat shock protein family B (small) member 8	The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The expression of this gene in induced by estrogen in estrogen receptor-positive breast cancer cells, and this protein also functions as a chaperone in association with Bag3, a stimulator of macroautophagy. Thus, this gene appears to be involved in regulation of cell proliferation, apoptosis, and carcinogenesis, and mutations in this gene have been associated with different neuromuscular diseases, including Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200855	NANDO:2200855	HSPB8	http://identifiers.org/ncbigene/26353	26353	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30171	HGNC:30171	heat shock protein family B (small) member 8	The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The expression of this gene in induced by estrogen in estrogen receptor-positive breast cancer cells, and this protein also functions as a chaperone in association with Bag3, a stimulator of macroautophagy. Thus, this gene appears to be involved in regulation of cell proliferation, apoptosis, and carcinogenesis, and mutations in this gene have been associated with different neuromuscular diseases, including Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200575	NANDO:1200575	HSPD1	http://identifiers.org/ncbigene/3329	3329	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5261	HGNC:5261	heat shock protein family D (Hsp60) member 1	This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_1200581	NANDO:1200581	HSPD1	http://identifiers.org/ncbigene/3329	3329	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5261	HGNC:5261	heat shock protein family D (Hsp60) member 1	This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_2200836	NANDO:2200836	HSPD1	http://identifiers.org/ncbigene/3329	3329	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5261	HGNC:5261	heat shock protein family D (Hsp60) member 1	This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_1200224	NANDO:1200224	HSPG2	http://identifiers.org/ncbigene/3339	3339	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5273	HGNC:5273	heparan sulfate proteoglycan 2	This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is a large multidomain proteoglycan that binds to and cross-links many extracellular matrix components and cell-surface molecules. It has been shown that this protein interacts with laminin, prolargin, collagen type IV, FGFBP1, FBLN2, FGF7 and transthyretin, etc., and it plays essential roles in multiple biological activities. Perlecan is a key component of the vascular extracellular matrix, where it helps to maintain the endothelial barrier function. It is a potent inhibitor of smooth muscle cell proliferation and is thus thought to help maintain vascular homeostasis. It can also promote growth factor (e.g., FGF2) activity and thus stimulate endothelial growth and re-generation. It is a major component of basement membranes, where it is involved in the stabilization of other molecules as well as being involved with glomerular permeability to macromolecules and cell adhesion. Mutations in this gene cause Schwartz-Jampel syndrome type 1, Silverman-Handmaker type of dyssegmental dysplasia, and tardive dyskinesia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_2200876	NANDO:2200876	HSPG2	http://identifiers.org/ncbigene/3339	3339	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5273	HGNC:5273	heparan sulfate proteoglycan 2	This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is a large multidomain proteoglycan that binds to and cross-links many extracellular matrix components and cell-surface molecules. It has been shown that this protein interacts with laminin, prolargin, collagen type IV, FGFBP1, FBLN2, FGF7 and transthyretin, etc., and it plays essential roles in multiple biological activities. Perlecan is a key component of the vascular extracellular matrix, where it helps to maintain the endothelial barrier function. It is a potent inhibitor of smooth muscle cell proliferation and is thus thought to help maintain vascular homeostasis. It can also promote growth factor (e.g., FGF2) activity and thus stimulate endothelial growth and re-generation. It is a major component of basement membranes, where it is involved in the stabilization of other molecules as well as being involved with glomerular permeability to macromolecules and cell adhesion. Mutations in this gene cause Schwartz-Jampel syndrome type 1, Silverman-Handmaker type of dyssegmental dysplasia, and tardive dyskinesia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_1200544	NANDO:1200544	HTRA1	http://identifiers.org/ncbigene/5654	5654	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9476	HGNC:9476	HtrA serine peptidase 1	This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200012	NANDO:1200012	HTT	http://identifiers.org/ncbigene/3064	3064	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4851	HGNC:4851	huntingtin	Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range of trinucleotide repeats (9-35) has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	HYAL1	http://identifiers.org/ncbigene/3373	3373	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5320	HGNC:5320	hyaluronidase 1	This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200115	NANDO:1200115	HYAL1	http://identifiers.org/ncbigene/3373	3373	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5320	HGNC:5320	hyaluronidase 1	This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	HYAL2	http://identifiers.org/ncbigene/8692	8692	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5321	HGNC:5321	hyaluronidase 2	This gene encodes a weak acid-active hyaluronidase. The encoded protein is similar in structure to other more active hyaluronidases. Hyaluronidases degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan and fragments of hyaluronan are thought to be involved in cell proliferation, migration and differentiation. Although it was previously thought to be a lysosomal hyaluronidase that is active at a pH below 4, the encoded protein is likely a GPI-anchored cell surface protein. This hyaluronidase serves as a receptor for the oncogenic virus Jaagsiekte sheep retrovirus. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. This gene encodes two alternatively spliced transcript variants which differ only in the 5' UTR.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200115	NANDO:1200115	HYAL2	http://identifiers.org/ncbigene/8692	8692	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5321	HGNC:5321	hyaluronidase 2	This gene encodes a weak acid-active hyaluronidase. The encoded protein is similar in structure to other more active hyaluronidases. Hyaluronidases degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan and fragments of hyaluronan are thought to be involved in cell proliferation, migration and differentiation. Although it was previously thought to be a lysosomal hyaluronidase that is active at a pH below 4, the encoded protein is likely a GPI-anchored cell surface protein. This hyaluronidase serves as a receptor for the oncogenic virus Jaagsiekte sheep retrovirus. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. This gene encodes two alternatively spliced transcript variants which differ only in the 5' UTR.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	HYAL3	http://identifiers.org/ncbigene/8372	8372	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5322	HGNC:5322	hyaluronidase 3	This gene encodes a member of the hyaluronidase family. Hyaluronidases are endoglycosidase enzymes that degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. The regulated turnover of hyaluronan plays a critical role in many biological processes including cell proliferation, migration and differentiation. The encoded protein may also play an important role in sperm function. This gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression, and the expression of specific transcript variants may be indicative of tumor status. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and some isoforms may lack hyaluronidase activity. This gene overlaps and is on the same strand as N-acetyltransferase 6 (GCN5-related), and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011]
http://nanbyodata.jp/ontology/NANDO_1200115	NANDO:1200115	HYAL3	http://identifiers.org/ncbigene/8372	8372	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5322	HGNC:5322	hyaluronidase 3	This gene encodes a member of the hyaluronidase family. Hyaluronidases are endoglycosidase enzymes that degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. The regulated turnover of hyaluronan plays a critical role in many biological processes including cell proliferation, migration and differentiation. The encoded protein may also play an important role in sperm function. This gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression, and the expression of specific transcript variants may be indicative of tumor status. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and some isoforms may lack hyaluronidase activity. This gene overlaps and is on the same strand as N-acetyltransferase 6 (GCN5-related), and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011]
http://nanbyodata.jp/ontology/NANDO_1200575	NANDO:1200575	HYCC1	http://identifiers.org/ncbigene/84668	84668	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24587	HGNC:24587	family with sequence similarity 126 member A	The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200584	NANDO:1200584	HYCC1	http://identifiers.org/ncbigene/84668	84668	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24587	HGNC:24587	family with sequence similarity 126 member A	The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200836	NANDO:2200836	HYCC1	http://identifiers.org/ncbigene/84668	84668	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24587	HGNC:24587	family with sequence similarity 126 member A	The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	HYDIN	http://identifiers.org/ncbigene/54768	54768	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19368	HGNC:19368	HYDIN axonemal central pair apparatus protein	This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1. [provided by RefSeq, Jan 2013]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	HYLS1	http://identifiers.org/ncbigene/219844	219844	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26558	HGNC:26558	HYLS1 centriolar and ciliogenesis associated	This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	ICOS	http://identifiers.org/ncbigene/29851	29851	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5351	HGNC:5351	inducible T cell costimulator	The protein encoded by this gene belongs to the CD28 and CTLA-4 cell-surface receptor family. It forms homodimers and plays an important role in cell-cell signaling, immune responses, and regulation of cell proliferation. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200344	NANDO:1200344	ICOS	http://identifiers.org/ncbigene/29851	29851	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5351	HGNC:5351	inducible T cell costimulator	The protein encoded by this gene belongs to the CD28 and CTLA-4 cell-surface receptor family. It forms homodimers and plays an important role in cell-cell signaling, immune responses, and regulation of cell proliferation. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200717	NANDO:2200717	ICOS	http://identifiers.org/ncbigene/29851	29851	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5351	HGNC:5351	inducible T cell costimulator	The protein encoded by this gene belongs to the CD28 and CTLA-4 cell-surface receptor family. It forms homodimers and plays an important role in cell-cell signaling, immune responses, and regulation of cell proliferation. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	IDS	http://identifiers.org/ncbigene/3423	3423	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5389	HGNC:5389	iduronate 2-sulfatase	This gene encodes a member of the sulfatase family of proteins. The encoded preproprotein is proteolytically processed to generate two polypeptide chains. This enzyme is involved in the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the X-linked lysosomal storage disease mucopolysaccharidosis type II, also known as Hunter syndrome. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1200097	NANDO:1200097	IDS	http://identifiers.org/ncbigene/3423	3423	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5389	HGNC:5389	iduronate 2-sulfatase	This gene encodes a member of the sulfatase family of proteins. The encoded preproprotein is proteolytically processed to generate two polypeptide chains. This enzyme is involved in the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the X-linked lysosomal storage disease mucopolysaccharidosis type II, also known as Hunter syndrome. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_2200548	NANDO:2200548	IDS	http://identifiers.org/ncbigene/3423	3423	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5389	HGNC:5389	iduronate 2-sulfatase	This gene encodes a member of the sulfatase family of proteins. The encoded preproprotein is proteolytically processed to generate two polypeptide chains. This enzyme is involved in the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the X-linked lysosomal storage disease mucopolysaccharidosis type II, also known as Hunter syndrome. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	IDUA	http://identifiers.org/ncbigene/3425	3425	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5391	HGNC:5391	alpha-L-iduronidase	This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200094	NANDO:1200094	IDUA	http://identifiers.org/ncbigene/3425	3425	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5391	HGNC:5391	alpha-L-iduronidase	This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200095	NANDO:1200095	IDUA	http://identifiers.org/ncbigene/3425	3425	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5391	HGNC:5391	alpha-L-iduronidase	This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200096	NANDO:1200096	IDUA	http://identifiers.org/ncbigene/3425	3425	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5391	HGNC:5391	alpha-L-iduronidase	This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200463	NANDO:2200463	IER3IP1	http://identifiers.org/ncbigene/51124	51124	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18550	HGNC:18550	immediate early response 3 interacting protein 1	This gene encodes a small protein that is localized to the endoplasmic reticulum (ER) and may play a role in the ER stress response by mediating cell differentiation and apoptosis. Transcription of this gene is regulated by tumor necrosis factor alpha and specificity protein 1 (Sp1). Mutations in this gene may play a role in microcephaly, epilepsy, and diabetes syndrome (MEDS), and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_2201435	NANDO:2201435	IER3IP1	http://identifiers.org/ncbigene/51124	51124	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18550	HGNC:18550	immediate early response 3 interacting protein 1	This gene encodes a small protein that is localized to the endoplasmic reticulum (ER) and may play a role in the ER stress response by mediating cell differentiation and apoptosis. Transcription of this gene is regulated by tumor necrosis factor alpha and specificity protein 1 (Sp1). Mutations in this gene may play a role in microcephaly, epilepsy, and diabetes syndrome (MEDS), and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_1200993	NANDO:1200993	IFIH1	http://identifiers.org/ncbigene/64135	64135	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18873	HGNC:18873	interferon induced with helicase C domain 1	IFIH1 encodes MDA5 which is an intracellular sensor of viral RNA that triggers the innate immune response. Sensing RNA length and secondary structure, MDA5 binds dsRNA oligonucleotides with a modified DExD/H-box helicase core and a C-terminal domain, thus leading to a proinflammatory response that includes interferons. It has been shown that Coronaviruses (CoVs) as well as various other virus families, are capable of evading the MDA5-dependent interferon response, thus impeding the activation of the innate immune response to infection. MDA5 has also been shown to play an important role in enhancing natural killer cell function in malaria infection. In addition to its protective role in antiviral responses, MDA5 has been implicated in autoimmune and autoinflammatory diseases such as type 1 diabetes, systemic lupus erythematosus, and Aicardi-Goutieres syndrome[provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_1200996	NANDO:1200996	IFIH1	http://identifiers.org/ncbigene/64135	64135	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18873	HGNC:18873	interferon induced with helicase C domain 1	IFIH1 encodes MDA5 which is an intracellular sensor of viral RNA that triggers the innate immune response. Sensing RNA length and secondary structure, MDA5 binds dsRNA oligonucleotides with a modified DExD/H-box helicase core and a C-terminal domain, thus leading to a proinflammatory response that includes interferons. It has been shown that Coronaviruses (CoVs) as well as various other virus families, are capable of evading the MDA5-dependent interferon response, thus impeding the activation of the innate immune response to infection. MDA5 has also been shown to play an important role in enhancing natural killer cell function in malaria infection. In addition to its protective role in antiviral responses, MDA5 has been implicated in autoimmune and autoinflammatory diseases such as type 1 diabetes, systemic lupus erythematosus, and Aicardi-Goutieres syndrome[provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_2200893	NANDO:2200893	IFIH1	http://identifiers.org/ncbigene/64135	64135	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18873	HGNC:18873	interferon induced with helicase C domain 1	IFIH1 encodes MDA5 which is an intracellular sensor of viral RNA that triggers the innate immune response. Sensing RNA length and secondary structure, MDA5 binds dsRNA oligonucleotides with a modified DExD/H-box helicase core and a C-terminal domain, thus leading to a proinflammatory response that includes interferons. It has been shown that Coronaviruses (CoVs) as well as various other virus families, are capable of evading the MDA5-dependent interferon response, thus impeding the activation of the innate immune response to infection. MDA5 has also been shown to play an important role in enhancing natural killer cell function in malaria infection. In addition to its protective role in antiviral responses, MDA5 has been implicated in autoimmune and autoinflammatory diseases such as type 1 diabetes, systemic lupus erythematosus, and Aicardi-Goutieres syndrome[provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_1200873	NANDO:1200873	IFITM5	http://identifiers.org/ncbigene/387733	387733	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16644	HGNC:16644	interferon induced transmembrane protein 5	This gene encodes a membrane protein thought to play a role in bone mineralization. This gene is located on chromosome 11 in a cluster of related genes which are induced by interferon, however, this gene has not been shown to be interferon inducible. A similar gene, located in a gene cluster on mouse chromosome 7, is a member of the interferon-inducible fragilis gene family. The mouse gene encodes a transmembrane protein described as participating in germ cell competence. A mutation in the 5' UTR of this gene has been associated with osteogenesis imperfecta type V (PMID: 22863190, 22863195). [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_2201011	NANDO:2201011	IFITM5	http://identifiers.org/ncbigene/387733	387733	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16644	HGNC:16644	interferon induced transmembrane protein 5	This gene encodes a membrane protein thought to play a role in bone mineralization. This gene is located on chromosome 11 in a cluster of related genes which are induced by interferon, however, this gene has not been shown to be interferon inducible. A similar gene, located in a gene cluster on mouse chromosome 7, is a member of the interferon-inducible fragilis gene family. The mouse gene encodes a transmembrane protein described as participating in germ cell competence. A mutation in the 5' UTR of this gene has been associated with osteogenesis imperfecta type V (PMID: 22863190, 22863195). [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	IFNGR1	http://identifiers.org/ncbigene/3459	3459	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5439	HGNC:5439	interferon gamma receptor 1	This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200359	NANDO:1200359	IFNGR1	http://identifiers.org/ncbigene/3459	3459	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5439	HGNC:5439	interferon gamma receptor 1	This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200759	NANDO:2200759	IFNGR1	http://identifiers.org/ncbigene/3459	3459	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5439	HGNC:5439	interferon gamma receptor 1	This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	IFNGR2	http://identifiers.org/ncbigene/3460	3460	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5440	HGNC:5440	interferon gamma receptor 2	This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200359	NANDO:1200359	IFNGR2	http://identifiers.org/ncbigene/3460	3460	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5440	HGNC:5440	interferon gamma receptor 2	This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200759	NANDO:2200759	IFNGR2	http://identifiers.org/ncbigene/3460	3460	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5440	HGNC:5440	interferon gamma receptor 2	This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	IFT172	http://identifiers.org/ncbigene/26160	26160	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30391	HGNC:30391	intraflagellar transport 172	This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	IFT172	http://identifiers.org/ncbigene/26160	26160	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30391	HGNC:30391	intraflagellar transport 172	This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]
http://nanbyodata.jp/ontology/NANDO_2200320	NANDO:2200320	IGF1R	http://identifiers.org/ncbigene/3480	3480	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5465	HGNC:5465	insulin like growth factor 1 receptor	This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_2200321	NANDO:2200321	IGF1R	http://identifiers.org/ncbigene/3480	3480	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5465	HGNC:5465	insulin like growth factor 1 receptor	This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_2200043	NANDO:2200043	IGF2	http://identifiers.org/ncbigene/3481	3481	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5466	HGNC:5466	insulin like growth factor 2	This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_2200001	NANDO:2200001	IGH	http://identifiers.org/ncbigene/3492	3492	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5477	HGNC:5477	immunoglobulin heavy locus	Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. This region represents the germline organization of the heavy chain locus. The locus includes V (variable), D (diversity), J (joining), and C (constant) segments. During B cell development, a recombination event at the DNA level joins a single D segment with a J segment; this partially rearranged D-J gene is then joined to a V segment. The rearranged V-D-J is then transcribed with the IGHM constant region; this transcript encodes a mu heavy chain. Later in development B cells generate V-D-J-Cmu-Cdelta pre-messenger RNA, which is alternatively spliced to encode either a mu or a delta heavy chain. Mature B cells in the lymph nodes undergo switch recombination, so that the V-D-J gene is brought in proximity to one of the IGHG, IGHA, or IGHE genes and each cell expresses either the gamma, alpha, or epsilon heavy chain. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random addition of nucleotides by terminal deoxynucleotidyltransferase, and by somatic hypermutation, which occurs during B cell maturation in the spleen and lymph nodes. Due to polymorphism, the numbers of functional V, J, and D genes differ among individuals and some V, D, J, and C segments may be pseudogenes. [provided by RefSeq, Dec 2017]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	IGHM	http://identifiers.org/ncbigene/3507	3507	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5541	HGNC:5541	immunoglobulin heavy constant mu	Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains and 2 identical light chains (see MIM 147200) joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. Each Ig heavy chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by an individual C region gene, that determines the isotype of the antibody and provides effector or signaling functions. The heavy chain V region is encoded by 1 each of 3 types of genes: V genes (see MIM 147070), joining (J) genes (see MIM 147010), and diversity (D) genes (see MIM 146910). The C region genes are clustered downstream of the V region genes within the heavy chain locus on chromosome 14. The IGHM gene encodes the C region of the mu heavy chain, which defines the IgM isotype. Naive B cells express the transmembrane forms of IgM and IgD (see IGHD; MIM 1471770) on their surface. During an antibody response, activated B cells can switch to the expression of individual downstream heavy chain C region genes by a process of somatic recombination known as isotype switching. In addition, secreted Ig forms that act as antibodies can be produced by alternative RNA processing of the heavy chain C region sequences. Although the membrane forms of all Ig isotypes are monomeric, secreted IgM forms pentamers, and occasionally hexamers, in plasma (summary by Janeway et al., 2005).[supplied by OMIM, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_1200003	NANDO:1200003	IGHMBP2	http://identifiers.org/ncbigene/3508	3508	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5542	HGNC:5542	immunoglobulin mu DNA binding protein 2	This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200004	NANDO:1200004	IGHMBP2	http://identifiers.org/ncbigene/3508	3508	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5542	HGNC:5542	immunoglobulin mu DNA binding protein 2	This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	IGHMBP2	http://identifiers.org/ncbigene/3508	3508	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5542	HGNC:5542	immunoglobulin mu DNA binding protein 2	This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	IGLL1	http://identifiers.org/ncbigene/3543	3543	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5870	HGNC:5870	immunoglobulin lambda like polypeptide 1	The preB cell receptor is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locus, and promotion of Ig light chain gene rearrangements. The preB cell receptor is composed of a membrane-bound Ig mu heavy chain in association with a heterodimeric surrogate light chain. This gene encodes one of the surrogate light chain subunits and is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement. Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or no gamma globulins or antibodies are made. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	IKBKG	http://identifiers.org/ncbigene/8517	8517	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5961	HGNC:5961	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016]
http://nanbyodata.jp/ontology/NANDO_1200359	NANDO:1200359	IKBKG	http://identifiers.org/ncbigene/8517	8517	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5961	HGNC:5961	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016]
http://nanbyodata.jp/ontology/NANDO_1200360	NANDO:1200360	IKBKG	http://identifiers.org/ncbigene/8517	8517	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5961	HGNC:5961	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016]
http://nanbyodata.jp/ontology/NANDO_1200998	NANDO:1200998	IKBKG	http://identifiers.org/ncbigene/8517	8517	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5961	HGNC:5961	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016]
http://nanbyodata.jp/ontology/NANDO_2200759	NANDO:2200759	IKBKG	http://identifiers.org/ncbigene/8517	8517	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5961	HGNC:5961	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016]
http://nanbyodata.jp/ontology/NANDO_2200761	NANDO:2200761	IKBKG	http://identifiers.org/ncbigene/8517	8517	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5961	HGNC:5961	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016]
http://nanbyodata.jp/ontology/NANDO_2200974	NANDO:2200974	IKBKG	http://identifiers.org/ncbigene/8517	8517	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5961	HGNC:5961	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016]
http://nanbyodata.jp/ontology/NANDO_2201013	NANDO:2201013	IKBKG	http://identifiers.org/ncbigene/8517	8517	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5961	HGNC:5961	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016]
http://nanbyodata.jp/ontology/NANDO_2200426	NANDO:2200426	IL10	http://identifiers.org/ncbigene/3586	3586	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5962	HGNC:5962	interleukin 10	The protein encoded by this gene is a cytokine produced primarily by monocytes and to a lesser extent by lymphocytes. This cytokine has pleiotropic effects in immunoregulation and inflammation. It down-regulates the expression of Th1 cytokines, MHC class II Ags, and costimulatory molecules on macrophages. It also enhances B cell survival, proliferation, and antibody production. This cytokine can block NF-kappa B activity, and is involved in the regulation of the JAK-STAT signaling pathway. Knockout studies in mice suggested the function of this cytokine as an essential immunoregulator in the intestinal tract. Mutations in this gene are associated with an increased susceptibility to HIV-1 infection and rheumatoid arthritis. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_2200440	NANDO:2200440	IL10	http://identifiers.org/ncbigene/3586	3586	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5962	HGNC:5962	interleukin 10	The protein encoded by this gene is a cytokine produced primarily by monocytes and to a lesser extent by lymphocytes. This cytokine has pleiotropic effects in immunoregulation and inflammation. It down-regulates the expression of Th1 cytokines, MHC class II Ags, and costimulatory molecules on macrophages. It also enhances B cell survival, proliferation, and antibody production. This cytokine can block NF-kappa B activity, and is involved in the regulation of the JAK-STAT signaling pathway. Knockout studies in mice suggested the function of this cytokine as an essential immunoregulator in the intestinal tract. Mutations in this gene are associated with an increased susceptibility to HIV-1 infection and rheumatoid arthritis. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_2200446	NANDO:2200446	IL10	http://identifiers.org/ncbigene/3586	3586	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5962	HGNC:5962	interleukin 10	The protein encoded by this gene is a cytokine produced primarily by monocytes and to a lesser extent by lymphocytes. This cytokine has pleiotropic effects in immunoregulation and inflammation. It down-regulates the expression of Th1 cytokines, MHC class II Ags, and costimulatory molecules on macrophages. It also enhances B cell survival, proliferation, and antibody production. This cytokine can block NF-kappa B activity, and is involved in the regulation of the JAK-STAT signaling pathway. Knockout studies in mice suggested the function of this cytokine as an essential immunoregulator in the intestinal tract. Mutations in this gene are associated with an increased susceptibility to HIV-1 infection and rheumatoid arthritis. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	IL10	http://identifiers.org/ncbigene/3586	3586	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5962	HGNC:5962	interleukin 10	The protein encoded by this gene is a cytokine produced primarily by monocytes and to a lesser extent by lymphocytes. This cytokine has pleiotropic effects in immunoregulation and inflammation. It down-regulates the expression of Th1 cytokines, MHC class II Ags, and costimulatory molecules on macrophages. It also enhances B cell survival, proliferation, and antibody production. This cytokine can block NF-kappa B activity, and is involved in the regulation of the JAK-STAT signaling pathway. Knockout studies in mice suggested the function of this cytokine as an essential immunoregulator in the intestinal tract. Mutations in this gene are associated with an increased susceptibility to HIV-1 infection and rheumatoid arthritis. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_2200440	NANDO:2200440	IL10RA	http://identifiers.org/ncbigene/3587	3587	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5964	HGNC:5964	interleukin 10 receptor subunit alpha	The protein encoded by this gene is a receptor for interleukin 10. This protein is structurally related to interferon receptors. It has been shown to mediate the immunosuppressive signal of interleukin 10, and thus inhibits the synthesis of proinflammatory cytokines. This receptor is reported to promote survival of progenitor myeloid cells through the insulin receptor substrate-2/PI 3-kinase/AKT pathway. Activation of this receptor leads to tyrosine phosphorylation of JAK1 and TYK2 kinases. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2009]
http://nanbyodata.jp/ontology/NANDO_2200445	NANDO:2200445	IL10RA	http://identifiers.org/ncbigene/3587	3587	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5964	HGNC:5964	interleukin 10 receptor subunit alpha	The protein encoded by this gene is a receptor for interleukin 10. This protein is structurally related to interferon receptors. It has been shown to mediate the immunosuppressive signal of interleukin 10, and thus inhibits the synthesis of proinflammatory cytokines. This receptor is reported to promote survival of progenitor myeloid cells through the insulin receptor substrate-2/PI 3-kinase/AKT pathway. Activation of this receptor leads to tyrosine phosphorylation of JAK1 and TYK2 kinases. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2009]
http://nanbyodata.jp/ontology/NANDO_2200447	NANDO:2200447	IL10RA	http://identifiers.org/ncbigene/3587	3587	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5964	HGNC:5964	interleukin 10 receptor subunit alpha	The protein encoded by this gene is a receptor for interleukin 10. This protein is structurally related to interferon receptors. It has been shown to mediate the immunosuppressive signal of interleukin 10, and thus inhibits the synthesis of proinflammatory cytokines. This receptor is reported to promote survival of progenitor myeloid cells through the insulin receptor substrate-2/PI 3-kinase/AKT pathway. Activation of this receptor leads to tyrosine phosphorylation of JAK1 and TYK2 kinases. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2009]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	IL10RA	http://identifiers.org/ncbigene/3587	3587	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5964	HGNC:5964	interleukin 10 receptor subunit alpha	The protein encoded by this gene is a receptor for interleukin 10. This protein is structurally related to interferon receptors. It has been shown to mediate the immunosuppressive signal of interleukin 10, and thus inhibits the synthesis of proinflammatory cytokines. This receptor is reported to promote survival of progenitor myeloid cells through the insulin receptor substrate-2/PI 3-kinase/AKT pathway. Activation of this receptor leads to tyrosine phosphorylation of JAK1 and TYK2 kinases. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2009]
http://nanbyodata.jp/ontology/NANDO_2200440	NANDO:2200440	IL10RB	http://identifiers.org/ncbigene/3588	3588	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5965	HGNC:5965	interleukin 10 receptor subunit beta	The protein encoded by this gene belongs to the cytokine receptor family. It is an accessory chain essential for the active interleukin 10 receptor complex. Coexpression of this and IL10RA proteins has been shown to be required for IL10-induced signal transduction. This gene and three other interferon receptor genes, IFAR2, IFNAR1, and IFNGR2, form a class II cytokine receptor gene cluster located in a small region on chromosome 21. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200445	NANDO:2200445	IL10RB	http://identifiers.org/ncbigene/3588	3588	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5965	HGNC:5965	interleukin 10 receptor subunit beta	The protein encoded by this gene belongs to the cytokine receptor family. It is an accessory chain essential for the active interleukin 10 receptor complex. Coexpression of this and IL10RA proteins has been shown to be required for IL10-induced signal transduction. This gene and three other interferon receptor genes, IFAR2, IFNAR1, and IFNGR2, form a class II cytokine receptor gene cluster located in a small region on chromosome 21. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200448	NANDO:2200448	IL10RB	http://identifiers.org/ncbigene/3588	3588	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5965	HGNC:5965	interleukin 10 receptor subunit beta	The protein encoded by this gene belongs to the cytokine receptor family. It is an accessory chain essential for the active interleukin 10 receptor complex. Coexpression of this and IL10RA proteins has been shown to be required for IL10-induced signal transduction. This gene and three other interferon receptor genes, IFAR2, IFNAR1, and IFNGR2, form a class II cytokine receptor gene cluster located in a small region on chromosome 21. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	IL10RB	http://identifiers.org/ncbigene/3588	3588	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5965	HGNC:5965	interleukin 10 receptor subunit beta	The protein encoded by this gene belongs to the cytokine receptor family. It is an accessory chain essential for the active interleukin 10 receptor complex. Coexpression of this and IL10RA proteins has been shown to be required for IL10-induced signal transduction. This gene and three other interferon receptor genes, IFAR2, IFNAR1, and IFNGR2, form a class II cytokine receptor gene cluster located in a small region on chromosome 21. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200251	NANDO:1200251	IL12B	http://identifiers.org/ncbigene/3593	3593	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5970	HGNC:5970	interleukin 12B	This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	IL12B	http://identifiers.org/ncbigene/3593	3593	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5970	HGNC:5970	interleukin 12B	This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200359	NANDO:1200359	IL12B	http://identifiers.org/ncbigene/3593	3593	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5970	HGNC:5970	interleukin 12B	This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200759	NANDO:2200759	IL12B	http://identifiers.org/ncbigene/3593	3593	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5970	HGNC:5970	interleukin 12B	This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	IL12RB1	http://identifiers.org/ncbigene/3594	3594	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5971	HGNC:5971	interleukin 12 receptor subunit beta 1	The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
http://nanbyodata.jp/ontology/NANDO_1200359	NANDO:1200359	IL12RB1	http://identifiers.org/ncbigene/3594	3594	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5971	HGNC:5971	interleukin 12 receptor subunit beta 1	The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
http://nanbyodata.jp/ontology/NANDO_2200759	NANDO:2200759	IL12RB1	http://identifiers.org/ncbigene/3594	3594	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5971	HGNC:5971	interleukin 12 receptor subunit beta 1	The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	IL17F	http://identifiers.org/ncbigene/112744	112744	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16404	HGNC:16404	interleukin 17F	The protein encoded by this gene is a cytokine that shares sequence similarity with IL17. This cytokine is expressed by activated T cells, and has been shown to stimulate the production of several other cytokines, including IL6, IL8, and CSF2/GM_CSF. This cytokine is also found to inhibit the angiogenesis of endothelial cells and induce endothelial cells to produce IL2, TGFB1/TGFB, and monocyte chemoattractant protein-1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200363	NANDO:1200363	IL17F	http://identifiers.org/ncbigene/112744	112744	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16404	HGNC:16404	interleukin 17F	The protein encoded by this gene is a cytokine that shares sequence similarity with IL17. This cytokine is expressed by activated T cells, and has been shown to stimulate the production of several other cytokines, including IL6, IL8, and CSF2/GM_CSF. This cytokine is also found to inhibit the angiogenesis of endothelial cells and induce endothelial cells to produce IL2, TGFB1/TGFB, and monocyte chemoattractant protein-1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200764	NANDO:2200764	IL17F	http://identifiers.org/ncbigene/112744	112744	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16404	HGNC:16404	interleukin 17F	The protein encoded by this gene is a cytokine that shares sequence similarity with IL17. This cytokine is expressed by activated T cells, and has been shown to stimulate the production of several other cytokines, including IL6, IL8, and CSF2/GM_CSF. This cytokine is also found to inhibit the angiogenesis of endothelial cells and induce endothelial cells to produce IL2, TGFB1/TGFB, and monocyte chemoattractant protein-1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	IL17RA	http://identifiers.org/ncbigene/23765	23765	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5985	HGNC:5985	interleukin 17 receptor A	Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]
http://nanbyodata.jp/ontology/NANDO_1200363	NANDO:1200363	IL17RA	http://identifiers.org/ncbigene/23765	23765	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5985	HGNC:5985	interleukin 17 receptor A	Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]
http://nanbyodata.jp/ontology/NANDO_2200764	NANDO:2200764	IL17RA	http://identifiers.org/ncbigene/23765	23765	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5985	HGNC:5985	interleukin 17 receptor A	Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]
http://nanbyodata.jp/ontology/NANDO_2200439	NANDO:2200439	IL1RN	http://identifiers.org/ncbigene/3557	3557	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6000	HGNC:6000	interleukin 1 receptor antagonist	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This protein inhibits the activities of interleukin 1, alpha (IL1A) and interleukin 1, beta (IL1B), and modulates a variety of interleukin 1 related immune and inflammatory responses, particularly in the acute phase of infection and inflammation. This gene and five other closely related cytokine genes form a gene cluster spanning approximately 400 kb on chromosome 2. A polymorphism of this gene is reported to be associated with increased risk of osteoporotic fractures and gastric cancer. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	IL2RA	http://identifiers.org/ncbigene/3559	3559	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6008	HGNC:6008	interleukin 2 receptor subunit alpha	The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency. Patients with severe Coronavirus Disease 2019 (COVID-19), the disease caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), have significantly elevated levels of IL2R in their plasma. Similarly, serum IL-2R levels are found to be elevated in patients with different types of carcinomas. Certain IL2RA and IL2RB gene polymorphisms have been associated with lung cancer risk. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_2200736	NANDO:2200736	IL2RA	http://identifiers.org/ncbigene/3559	3559	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6008	HGNC:6008	interleukin 2 receptor subunit alpha	The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency. Patients with severe Coronavirus Disease 2019 (COVID-19), the disease caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), have significantly elevated levels of IL2R in their plasma. Similarly, serum IL-2R levels are found to be elevated in patients with different types of carcinomas. Certain IL2RA and IL2RB gene polymorphisms have been associated with lung cancer risk. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	IL2RG	http://identifiers.org/ncbigene/3561	3561	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6010	HGNC:6010	interleukin 2 receptor subunit gamma	The protein encoded by this gene is an important signaling component of many interleukin receptors, including those of interleukin -2, -4, -7 and -21, and is thus referred to as the common gamma chain. Mutations in this gene cause X-linked severe combined immunodeficiency (XSCID), as well as X-linked combined immunodeficiency (XCID), a less severe immunodeficiency disorder. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200321	NANDO:1200321	IL2RG	http://identifiers.org/ncbigene/3561	3561	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6010	HGNC:6010	interleukin 2 receptor subunit gamma	The protein encoded by this gene is an important signaling component of many interleukin receptors, including those of interleukin -2, -4, -7 and -21, and is thus referred to as the common gamma chain. Mutations in this gene cause X-linked severe combined immunodeficiency (XSCID), as well as X-linked combined immunodeficiency (XCID), a less severe immunodeficiency disorder. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200694	NANDO:2200694	IL2RG	http://identifiers.org/ncbigene/3561	3561	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6010	HGNC:6010	interleukin 2 receptor subunit gamma	The protein encoded by this gene is an important signaling component of many interleukin receptors, including those of interleukin -2, -4, -7 and -21, and is thus referred to as the common gamma chain. Mutations in this gene cause X-linked severe combined immunodeficiency (XSCID), as well as X-linked combined immunodeficiency (XCID), a less severe immunodeficiency disorder. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200697	NANDO:2200697	IL2RG	http://identifiers.org/ncbigene/3561	3561	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6010	HGNC:6010	interleukin 2 receptor subunit gamma	The protein encoded by this gene is an important signaling component of many interleukin receptors, including those of interleukin -2, -4, -7 and -21, and is thus referred to as the common gamma chain. Mutations in this gene cause X-linked severe combined immunodeficiency (XSCID), as well as X-linked combined immunodeficiency (XCID), a less severe immunodeficiency disorder. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200001	NANDO:2200001	IL3	http://identifiers.org/ncbigene/3562	3562	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6011	HGNC:6011	interleukin 3	The protein encoded by this gene is a potent growth promoting cytokine. This cytokine is capable of supporting the proliferation of a broad range of hematopoietic cell types. It is involved in a variety of cell activities such as cell growth, differentiation and apoptosis. This cytokine has been shown to also possess neurotrophic activity, and it may be associated with neurologic disorders. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200240	NANDO:1200240	IL36RN	http://identifiers.org/ncbigene/26525	26525	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15561	HGNC:15561	interleukin 36 receptor antagonist	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine was shown to specifically inhibit the activation of NF-kappaB induced by interleukin 1 family, member 6 (IL1F6). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200440	NANDO:2200440	IL36RN	http://identifiers.org/ncbigene/26525	26525	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15561	HGNC:15561	interleukin 36 receptor antagonist	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine was shown to specifically inhibit the activation of NF-kappaB induced by interleukin 1 family, member 6 (IL1F6). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200452	NANDO:2200452	IL36RN	http://identifiers.org/ncbigene/26525	26525	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15561	HGNC:15561	interleukin 36 receptor antagonist	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine was shown to specifically inhibit the activation of NF-kappaB induced by interleukin 1 family, member 6 (IL1F6). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201001	NANDO:2201001	IL36RN	http://identifiers.org/ncbigene/26525	26525	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15561	HGNC:15561	interleukin 36 receptor antagonist	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine was shown to specifically inhibit the activation of NF-kappaB induced by interleukin 1 family, member 6 (IL1F6). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200697	NANDO:2200697	IL7R	http://identifiers.org/ncbigene/3575	3575	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6024	HGNC:6024	interleukin 7 receptor	The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	INF2	http://identifiers.org/ncbigene/64423	64423	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23791	HGNC:23791	inverted formin 2	This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	INPP5E	http://identifiers.org/ncbigene/56623	56623	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21474	HGNC:21474	inositol polyphosphate-5-phosphatase E	The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	INPP5K	http://identifiers.org/ncbigene/51763	51763	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:33882	HGNC:33882	inositol polyphosphate-5-phosphatase K	This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200460	NANDO:2200460	INS	http://identifiers.org/ncbigene/3630	3630	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6081	HGNC:6081	insulin	This gene encodes insulin, a peptide hormone that plays a vital role in the regulation of carbohydrate and lipid metabolism. After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified, including insulin-dependent diabetes mellitus, permanent neonatal diabetes diabetes mellitus, maturity-onset diabetes of the young type 10 and hyperproinsulinemia. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_2200463	NANDO:2200463	INS	http://identifiers.org/ncbigene/3630	3630	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6081	HGNC:6081	insulin	This gene encodes insulin, a peptide hormone that plays a vital role in the regulation of carbohydrate and lipid metabolism. After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified, including insulin-dependent diabetes mellitus, permanent neonatal diabetes diabetes mellitus, maturity-onset diabetes of the young type 10 and hyperproinsulinemia. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_2201434	NANDO:2201434	INS	http://identifiers.org/ncbigene/3630	3630	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6081	HGNC:6081	insulin	This gene encodes insulin, a peptide hormone that plays a vital role in the regulation of carbohydrate and lipid metabolism. After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified, including insulin-dependent diabetes mellitus, permanent neonatal diabetes diabetes mellitus, maturity-onset diabetes of the young type 10 and hyperproinsulinemia. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_2201435	NANDO:2201435	INS	http://identifiers.org/ncbigene/3630	3630	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6081	HGNC:6081	insulin	This gene encodes insulin, a peptide hormone that plays a vital role in the regulation of carbohydrate and lipid metabolism. After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified, including insulin-dependent diabetes mellitus, permanent neonatal diabetes diabetes mellitus, maturity-onset diabetes of the young type 10 and hyperproinsulinemia. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_2200464	NANDO:2200464	INSR	http://identifiers.org/ncbigene/3643	3643	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6091	HGNC:6091	insulin receptor	This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	INVS	http://identifiers.org/ncbigene/27130	27130	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17870	HGNC:17870	inversin	This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012]
http://nanbyodata.jp/ontology/NANDO_2200140	NANDO:2200140	INVS	http://identifiers.org/ncbigene/27130	27130	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17870	HGNC:17870	inversin	This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	IQCB1	http://identifiers.org/ncbigene/9657	9657	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28949	HGNC:28949	IQ motif containing B1	This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	IQCB1	http://identifiers.org/ncbigene/9657	9657	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28949	HGNC:28949	IQ motif containing B1	This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_2200140	NANDO:2200140	IQCB1	http://identifiers.org/ncbigene/9657	9657	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28949	HGNC:28949	IQ motif containing B1	This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	IRAK4	http://identifiers.org/ncbigene/51135	51135	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17967	HGNC:17967	interleukin 1 receptor associated kinase 4	This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_1200361	NANDO:1200361	IRAK4	http://identifiers.org/ncbigene/51135	51135	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17967	HGNC:17967	interleukin 1 receptor associated kinase 4	This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_2200762	NANDO:2200762	IRAK4	http://identifiers.org/ncbigene/51135	51135	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17967	HGNC:17967	interleukin 1 receptor associated kinase 4	This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	IRF8	http://identifiers.org/ncbigene/3394	3394	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5358	HGNC:5358	interferon regulatory factor 8	Interferon consensus sequence-binding protein (ICSBP) is a transcription factor of the interferon (IFN) regulatory factor (IRF) family. Proteins of this family are composed of a conserved DNA-binding domain in the N-terminal region and a divergent C-terminal region that serves as the regulatory domain. The IRF family proteins bind to the IFN-stimulated response element (ISRE) and regulate expression of genes stimulated by type I IFNs, namely IFN-alpha and IFN-beta. IRF family proteins also control expression of IFN-alpha and IFN-beta-regulated genes that are induced by viral infection. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200359	NANDO:1200359	IRF8	http://identifiers.org/ncbigene/3394	3394	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5358	HGNC:5358	interferon regulatory factor 8	Interferon consensus sequence-binding protein (ICSBP) is a transcription factor of the interferon (IFN) regulatory factor (IRF) family. Proteins of this family are composed of a conserved DNA-binding domain in the N-terminal region and a divergent C-terminal region that serves as the regulatory domain. The IRF family proteins bind to the IFN-stimulated response element (ISRE) and regulate expression of genes stimulated by type I IFNs, namely IFN-alpha and IFN-beta. IRF family proteins also control expression of IFN-alpha and IFN-beta-regulated genes that are induced by viral infection. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200759	NANDO:2200759	IRF8	http://identifiers.org/ncbigene/3394	3394	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5358	HGNC:5358	interferon regulatory factor 8	Interferon consensus sequence-binding protein (ICSBP) is a transcription factor of the interferon (IFN) regulatory factor (IRF) family. Proteins of this family are composed of a conserved DNA-binding domain in the N-terminal region and a divergent C-terminal region that serves as the regulatory domain. The IRF family proteins bind to the IFN-stimulated response element (ISRE) and regulate expression of genes stimulated by type I IFNs, namely IFN-alpha and IFN-beta. IRF family proteins also control expression of IFN-alpha and IFN-beta-regulated genes that are induced by viral infection. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200760	NANDO:2200760	IRF8	http://identifiers.org/ncbigene/3394	3394	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5358	HGNC:5358	interferon regulatory factor 8	Interferon consensus sequence-binding protein (ICSBP) is a transcription factor of the interferon (IFN) regulatory factor (IRF) family. Proteins of this family are composed of a conserved DNA-binding domain in the N-terminal region and a divergent C-terminal region that serves as the regulatory domain. The IRF family proteins bind to the IFN-stimulated response element (ISRE) and regulate expression of genes stimulated by type I IFNs, namely IFN-alpha and IFN-beta. IRF family proteins also control expression of IFN-alpha and IFN-beta-regulated genes that are induced by viral infection. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	ISG15	http://identifiers.org/ncbigene/9636	9636	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4053	HGNC:4053	ISG15 ubiquitin like modifier	The protein encoded by this gene is a ubiquitin-like protein that is conjugated to intracellular target proteins upon activation by interferon-alpha and interferon-beta. Several functions have been ascribed to the encoded protein, including chemotactic activity towards neutrophils, direction of ligated target proteins to intermediate filaments, cell-to-cell signaling, and antiviral activity during viral infections. While conjugates of this protein have been found to be noncovalently attached to intermediate filaments, this protein is sometimes secreted. [provided by RefSeq, Dec 2012]
http://nanbyodata.jp/ontology/NANDO_1200359	NANDO:1200359	ISG15	http://identifiers.org/ncbigene/9636	9636	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4053	HGNC:4053	ISG15 ubiquitin like modifier	The protein encoded by this gene is a ubiquitin-like protein that is conjugated to intracellular target proteins upon activation by interferon-alpha and interferon-beta. Several functions have been ascribed to the encoded protein, including chemotactic activity towards neutrophils, direction of ligated target proteins to intermediate filaments, cell-to-cell signaling, and antiviral activity during viral infections. While conjugates of this protein have been found to be noncovalently attached to intermediate filaments, this protein is sometimes secreted. [provided by RefSeq, Dec 2012]
http://nanbyodata.jp/ontology/NANDO_2200759	NANDO:2200759	ISG15	http://identifiers.org/ncbigene/9636	9636	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4053	HGNC:4053	ISG15 ubiquitin like modifier	The protein encoded by this gene is a ubiquitin-like protein that is conjugated to intracellular target proteins upon activation by interferon-alpha and interferon-beta. Several functions have been ascribed to the encoded protein, including chemotactic activity towards neutrophils, direction of ligated target proteins to intermediate filaments, cell-to-cell signaling, and antiviral activity during viral infections. While conjugates of this protein have been found to be noncovalently attached to intermediate filaments, this protein is sometimes secreted. [provided by RefSeq, Dec 2012]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	ITCH	http://identifiers.org/ncbigene/83737	83737	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13890	HGNC:13890	itchy E3 ubiquitin protein ligase	This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_2200739	NANDO:2200739	ITCH	http://identifiers.org/ncbigene/83737	83737	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13890	HGNC:13890	itchy E3 ubiquitin protein ligase	This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_2200657	NANDO:2200657	ITGA2B	http://identifiers.org/ncbigene/3674	3674	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6138	HGNC:6138	integrin subunit alpha 2b	This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_2200659	NANDO:2200659	ITGA2B	http://identifiers.org/ncbigene/3674	3674	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6138	HGNC:6138	integrin subunit alpha 2b	This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_2200664	NANDO:2200664	ITGA2B	http://identifiers.org/ncbigene/3674	3674	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6138	HGNC:6138	integrin subunit alpha 2b	This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1200234	NANDO:1200234	ITGA6	http://identifiers.org/ncbigene/3655	3655	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6142	HGNC:6142	integrin subunit alpha 6	The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200236	NANDO:1200236	ITGA6	http://identifiers.org/ncbigene/3655	3655	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6142	HGNC:6142	integrin subunit alpha 6	The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1201066	NANDO:1201066	ITGA6	http://identifiers.org/ncbigene/3655	3655	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6142	HGNC:6142	integrin subunit alpha 6	The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_2201000	NANDO:2201000	ITGA6	http://identifiers.org/ncbigene/3655	3655	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6142	HGNC:6142	integrin subunit alpha 6	The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_2201342	NANDO:2201342	ITGA6	http://identifiers.org/ncbigene/3655	3655	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6142	HGNC:6142	integrin subunit alpha 6	The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	ITGA7	http://identifiers.org/ncbigene/3679	3679	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6143	HGNC:6143	integrin subunit alpha 7	The protein encoded by this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. They mediate a wide spectrum of cell-cell and cell-matrix interactions, and thus play a role in cell migration, morphologic development, differentiation, and metastasis. This protein functions as a receptor for the basement membrane protein laminin-1. It is mainly expressed in skeletal and cardiac muscles and may be involved in differentiation and migration processes during myogenesis. Defects in this gene are associated with congenital myopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	ITGA7	http://identifiers.org/ncbigene/3679	3679	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6143	HGNC:6143	integrin subunit alpha 7	The protein encoded by this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. They mediate a wide spectrum of cell-cell and cell-matrix interactions, and thus play a role in cell migration, morphologic development, differentiation, and metastasis. This protein functions as a receptor for the basement membrane protein laminin-1. It is mainly expressed in skeletal and cardiac muscles and may be involved in differentiation and migration processes during myogenesis. Defects in this gene are associated with congenital myopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	ITGB2	http://identifiers.org/ncbigene/3689	3689	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6155	HGNC:6155	integrin subunit beta 2	This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
http://nanbyodata.jp/ontology/NANDO_1200355	NANDO:1200355	ITGB2	http://identifiers.org/ncbigene/3689	3689	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6155	HGNC:6155	integrin subunit beta 2	This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
http://nanbyodata.jp/ontology/NANDO_2200426	NANDO:2200426	ITGB2	http://identifiers.org/ncbigene/3689	3689	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6155	HGNC:6155	integrin subunit beta 2	This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
http://nanbyodata.jp/ontology/NANDO_2200755	NANDO:2200755	ITGB2	http://identifiers.org/ncbigene/3689	3689	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6155	HGNC:6155	integrin subunit beta 2	This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
http://nanbyodata.jp/ontology/NANDO_2200657	NANDO:2200657	ITGB3	http://identifiers.org/ncbigene/3690	3690	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6156	HGNC:6156	integrin subunit beta 3	The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200659	NANDO:2200659	ITGB3	http://identifiers.org/ncbigene/3690	3690	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6156	HGNC:6156	integrin subunit beta 3	The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200664	NANDO:2200664	ITGB3	http://identifiers.org/ncbigene/3690	3690	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6156	HGNC:6156	integrin subunit beta 3	The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200234	NANDO:1200234	ITGB4	http://identifiers.org/ncbigene/3691	3691	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6158	HGNC:6158	integrin subunit beta 4	Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200236	NANDO:1200236	ITGB4	http://identifiers.org/ncbigene/3691	3691	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6158	HGNC:6158	integrin subunit beta 4	Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201066	NANDO:1201066	ITGB4	http://identifiers.org/ncbigene/3691	3691	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6158	HGNC:6158	integrin subunit beta 4	Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201000	NANDO:2201000	ITGB4	http://identifiers.org/ncbigene/3691	3691	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6158	HGNC:6158	integrin subunit beta 4	Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201342	NANDO:2201342	ITGB4	http://identifiers.org/ncbigene/3691	3691	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6158	HGNC:6158	integrin subunit beta 4	Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	ITK	http://identifiers.org/ncbigene/3702	3702	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6171	HGNC:6171	IL2 inducible T cell kinase	This gene encodes an intracellular tyrosine kinase expressed in T-cells. The protein contains both SH2 and SH3 domains which are often found in intracellular kinases. It is thought to play a role in T-cell proliferation and differentiation. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200734	NANDO:2200734	ITK	http://identifiers.org/ncbigene/3702	3702	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6171	HGNC:6171	IL2 inducible T cell kinase	This gene encodes an intracellular tyrosine kinase expressed in T-cells. The protein contains both SH2 and SH3 domains which are often found in intracellular kinases. It is thought to play a role in T-cell proliferation and differentiation. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200037	NANDO:1200037	ITPR1	http://identifiers.org/ncbigene/3708	3708	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6180	HGNC:6180	inositol 1,4,5-trisphosphate receptor type 1	This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_2200882	NANDO:2200882	ITPR1	http://identifiers.org/ncbigene/3708	3708	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6180	HGNC:6180	inositol 1,4,5-trisphosphate receptor type 1	This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_1200798	NANDO:1200798	IVD	http://identifiers.org/ncbigene/3712	3712	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6186	HGNC:6186	isovaleryl-CoA dehydrogenase	Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200494	NANDO:2200494	IVD	http://identifiers.org/ncbigene/3712	3712	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6186	HGNC:6186	isovaleryl-CoA dehydrogenase	Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200918	NANDO:1200918	JAG1	http://identifiers.org/ncbigene/182	182	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6188	HGNC:6188	jagged canonical Notch ligand 1	The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Nov 2019]
http://nanbyodata.jp/ontology/NANDO_2200931	NANDO:2200931	JAG1	http://identifiers.org/ncbigene/182	182	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6188	HGNC:6188	jagged canonical Notch ligand 1	The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Nov 2019]
http://nanbyodata.jp/ontology/NANDO_2200014	NANDO:2200014	JAK2	http://identifiers.org/ncbigene/3717	3717	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6192	HGNC:6192	Janus kinase 2	This gene encodes a non-receptor tyrosine kinase that plays a central role in cytokine and growth factor signalling. The primary isoform of this protein has an N-terminal FERM domain that is required for erythropoietin receptor association, an SH2 domain that binds STAT transcription factors, a pseudokinase domain and a C-terminal tyrosine kinase domain. Cytokine binding induces autophosphorylation and activation of this kinase. This kinase then recruits and phosphorylates signal transducer and activator of transcription (STAT) proteins. Growth factors like TGF-beta 1 also induce phosphorylation and activation of this kinase and translocation of downstream STAT proteins to the nucleus where they influence gene transcription. Mutations in this gene are associated with numerous inflammatory diseases and malignancies. This gene is a downstream target of the pleiotropic cytokine IL6 that is produced by B cells, T cells, dendritic cells and macrophages to produce an immune response or inflammation. Disregulation of the IL6/JAK2/STAT3 signalling pathways produces increased cellular proliferation and myeloproliferative neoplasms of hematopoietic stem cells. A nonsynonymous mutation in the pseudokinase domain of this gene disrupts the domains inhibitory effect and results in constitutive tyrosine phosphorylation activity and hypersensitivity to cytokine signalling. This gene and the IL6/JAK2/STAT3 signalling pathway is a therapeutic target for the treatment of excessive inflammatory responses to viral infections. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_2200643	NANDO:2200643	JAK2	http://identifiers.org/ncbigene/3717	3717	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6192	HGNC:6192	Janus kinase 2	This gene encodes a non-receptor tyrosine kinase that plays a central role in cytokine and growth factor signalling. The primary isoform of this protein has an N-terminal FERM domain that is required for erythropoietin receptor association, an SH2 domain that binds STAT transcription factors, a pseudokinase domain and a C-terminal tyrosine kinase domain. Cytokine binding induces autophosphorylation and activation of this kinase. This kinase then recruits and phosphorylates signal transducer and activator of transcription (STAT) proteins. Growth factors like TGF-beta 1 also induce phosphorylation and activation of this kinase and translocation of downstream STAT proteins to the nucleus where they influence gene transcription. Mutations in this gene are associated with numerous inflammatory diseases and malignancies. This gene is a downstream target of the pleiotropic cytokine IL6 that is produced by B cells, T cells, dendritic cells and macrophages to produce an immune response or inflammation. Disregulation of the IL6/JAK2/STAT3 signalling pathways produces increased cellular proliferation and myeloproliferative neoplasms of hematopoietic stem cells. A nonsynonymous mutation in the pseudokinase domain of this gene disrupts the domains inhibitory effect and results in constitutive tyrosine phosphorylation activity and hypersensitivity to cytokine signalling. This gene and the IL6/JAK2/STAT3 signalling pathway is a therapeutic target for the treatment of excessive inflammatory responses to viral infections. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_1200207	NANDO:1200207	JAM2	http://identifiers.org/ncbigene/58494	58494	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14686	HGNC:14686	junctional adhesion molecule 2	This gene belongs to the immunoglobulin superfamily, and the junctional adhesion molecule (JAM) family. The protein encoded by this gene is a type I membrane protein that is localized at the tight junctions of both epithelial and endothelial cells. It acts as an adhesive ligand for interacting with a variety of immune cell types, and may play a role in lymphocyte homing to secondary lymphoid organs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	KARS1	http://identifiers.org/ncbigene/3735	3735	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6215	HGNC:6215	lysyl-tRNA synthetase 1	Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200681	NANDO:1200681	KAT6B	http://identifiers.org/ncbigene/23522	23522	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17582	HGNC:17582	lysine acetyltransferase 6B	The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_2200982	NANDO:2200982	KAT6B	http://identifiers.org/ncbigene/23522	23522	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17582	HGNC:17582	lysine acetyltransferase 6B	The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	KATNIP	http://identifiers.org/ncbigene/23247	23247	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29068	HGNC:29068	katanin interacting protein	This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_1200477	NANDO:1200477	KBTBD13	http://identifiers.org/ncbigene/390594	390594	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:37227	HGNC:37227	kelch repeat and BTB domain containing 13	The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_1200478	NANDO:1200478	KBTBD13	http://identifiers.org/ncbigene/390594	390594	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:37227	HGNC:37227	kelch repeat and BTB domain containing 13	The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_2200228	NANDO:2200228	KCNE1	http://identifiers.org/ncbigene/3753	3753	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6240	HGNC:6240	potassium voltage-gated channel subfamily E regulatory subunit 1	The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200228	NANDO:2200228	KCNE2	http://identifiers.org/ncbigene/9992	9992	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6242	HGNC:6242	potassium voltage-gated channel subfamily E regulatory subunit 2	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a small integral membrane subunit that assembles with the KCNH2 gene product, a pore-forming protein, to alter its function. This gene is expressed in heart and muscle and the gene mutations are associated with cardiac arrhythmia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200228	NANDO:2200228	KCNH2	http://identifiers.org/ncbigene/3757	3757	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6251	HGNC:6251	potassium voltage-gated channel subfamily H member 2	This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200146	NANDO:2200146	KCNJ1	http://identifiers.org/ncbigene/3758	3758	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6255	HGNC:6255	potassium inwardly rectifying channel subfamily J member 1	Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200399	NANDO:2200399	KCNJ11	http://identifiers.org/ncbigene/3767	3767	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6257	HGNC:6257	potassium inwardly rectifying channel subfamily J member 11	Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2200460	NANDO:2200460	KCNJ11	http://identifiers.org/ncbigene/3767	3767	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6257	HGNC:6257	potassium inwardly rectifying channel subfamily J member 11	Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2200463	NANDO:2200463	KCNJ11	http://identifiers.org/ncbigene/3767	3767	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6257	HGNC:6257	potassium inwardly rectifying channel subfamily J member 11	Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2201434	NANDO:2201434	KCNJ11	http://identifiers.org/ncbigene/3767	3767	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6257	HGNC:6257	potassium inwardly rectifying channel subfamily J member 11	Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2201435	NANDO:2201435	KCNJ11	http://identifiers.org/ncbigene/3767	3767	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6257	HGNC:6257	potassium inwardly rectifying channel subfamily J member 11	Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200502	NANDO:1200502	KCNJ2	http://identifiers.org/ncbigene/3759	3759	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6263	HGNC:6263	potassium inwardly rectifying channel subfamily J member 2	Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201117	NANDO:1201117	KCNJ2	http://identifiers.org/ncbigene/3759	3759	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6263	HGNC:6263	potassium inwardly rectifying channel subfamily J member 2	Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200228	NANDO:2200228	KCNJ2	http://identifiers.org/ncbigene/3759	3759	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6263	HGNC:6263	potassium inwardly rectifying channel subfamily J member 2	Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201516	NANDO:2201516	KCNJ2	http://identifiers.org/ncbigene/3759	3759	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6263	HGNC:6263	potassium inwardly rectifying channel subfamily J member 2	Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200502	NANDO:1200502	KCNJ5	http://identifiers.org/ncbigene/3762	3762	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6266	HGNC:6266	potassium inwardly rectifying channel subfamily J member 5	This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a subunit of the potassium channel which is homotetrameric. It is controlled by G-proteins and has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Naturally occurring mutations in this gene are associated with aldosterone-producing adenomas. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1201117	NANDO:1201117	KCNJ5	http://identifiers.org/ncbigene/3762	3762	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6266	HGNC:6266	potassium inwardly rectifying channel subfamily J member 5	This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a subunit of the potassium channel which is homotetrameric. It is controlled by G-proteins and has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Naturally occurring mutations in this gene are associated with aldosterone-producing adenomas. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200228	NANDO:2200228	KCNJ5	http://identifiers.org/ncbigene/3762	3762	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6266	HGNC:6266	potassium inwardly rectifying channel subfamily J member 5	This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a subunit of the potassium channel which is homotetrameric. It is controlled by G-proteins and has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Naturally occurring mutations in this gene are associated with aldosterone-producing adenomas. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2201516	NANDO:2201516	KCNJ5	http://identifiers.org/ncbigene/3762	3762	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6266	HGNC:6266	potassium inwardly rectifying channel subfamily J member 5	This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a subunit of the potassium channel which is homotetrameric. It is controlled by G-proteins and has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Naturally occurring mutations in this gene are associated with aldosterone-producing adenomas. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200228	NANDO:2200228	KCNQ1	http://identifiers.org/ncbigene/3784	3784	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6294	HGNC:6294	potassium voltage-gated channel subfamily Q member 1	This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_1200593	NANDO:1200593	KCNQ2	http://identifiers.org/ncbigene/3785	3785	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6296	HGNC:6296	potassium voltage-gated channel subfamily Q member 2	The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability.  The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201398	NANDO:2201398	KCNQ2	http://identifiers.org/ncbigene/3785	3785	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6296	HGNC:6296	potassium voltage-gated channel subfamily Q member 2	The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability.  The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201403	NANDO:2201403	KCNQ2	http://identifiers.org/ncbigene/3785	3785	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6296	HGNC:6296	potassium voltage-gated channel subfamily Q member 2	The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability.  The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200945	NANDO:1200945	KCNQ4	http://identifiers.org/ncbigene/9132	9132	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6298	HGNC:6298	potassium voltage-gated channel subfamily Q member 4	The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200595	NANDO:1200595	KCNT1	http://identifiers.org/ncbigene/57582	57582	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18865	HGNC:18865	potassium sodium-activated channel subfamily T member 1	Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
http://nanbyodata.jp/ontology/NANDO_2201408	NANDO:2201408	KCNT1	http://identifiers.org/ncbigene/57582	57582	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18865	HGNC:18865	potassium sodium-activated channel subfamily T member 1	Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	KCTD17	http://identifiers.org/ncbigene/79734	79734	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25705	HGNC:25705	potassium channel tetramerization domain containing 17	This gene encodes a protein that belongs to a conserved family of potassium channel tetramerization domain (KCTD)-containing proteins. The encoded protein functions in ciliogenesis by acting as a substrate adaptor for the cullin3-based ubiquitin-conjugating enzyme E3 ligase, and targets trichoplein, a keratin-binding protein, for degradation via polyubiquitinylation. A mutation in this gene is associated with autosomal dominant myoclonic dystonia 26. [provided by RefSeq, Nov 2016]
http://nanbyodata.jp/ontology/NANDO_1200672	NANDO:1200672	KDM6A	http://identifiers.org/ncbigene/7403	7403	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12637	HGNC:12637	lysine demethylase 6A	This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
http://nanbyodata.jp/ontology/NANDO_2200956	NANDO:2200956	KDM6A	http://identifiers.org/ncbigene/7403	7403	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12637	HGNC:12637	lysine demethylase 6A	This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	KIAA0586	http://identifiers.org/ncbigene/9786	9786	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19960	HGNC:19960	KIAA0586	This gene encodes a conserved centrosomal protein that functions in ciliogenesis and responds to hedgehog signaling. Mutations in this gene causes Joubert syndrome 23. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Aug 2016]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	KIAA0753	http://identifiers.org/ncbigene/9851	9851	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29110	HGNC:29110	KIAA0753	This gene encodes a subunit of a protein complex that regulates ciliogenesis and cilia maintenance. The encoded protein has also been shown to regulate centriolar duplication. Mutations in this gene cause an orofaciodigital syndrome and a form of Joubert syndrome in human patients. [provided by RefSeq, May 2017]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	KIF1A	http://identifiers.org/ncbigene/547	547	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:888	HGNC:888	kinesin family member 1A	The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_2200855	NANDO:2200855	KIF1B	http://identifiers.org/ncbigene/23095	23095	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16636	HGNC:16636	kinesin family member 1B	This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene cause Charcot-Marie-Tooth disease, type 2A1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200885	NANDO:1200885	KIF23	http://identifiers.org/ncbigene/9493	9493	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6392	HGNC:6392	kinesin family member 23	The protein encoded by this gene is a member of kinesin-like protein family. This family includes microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. This protein has been shown to cross-bridge antiparallel microtubules and drive microtubule movement in vitro. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_1200888	NANDO:1200888	KIF23	http://identifiers.org/ncbigene/9493	9493	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6392	HGNC:6392	kinesin family member 23	The protein encoded by this gene is a member of kinesin-like protein family. This family includes microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. This protein has been shown to cross-bridge antiparallel microtubules and drive microtubule movement in vitro. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	KIF7	http://identifiers.org/ncbigene/374654	374654	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30497	HGNC:30497	kinesin family member 7	This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011]
http://nanbyodata.jp/ontology/NANDO_2200426	NANDO:2200426	KIR3DL1	http://identifiers.org/ncbigene/3811	3811	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6338	HGNC:6338	killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1	"Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several ""framework"" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]"
http://nanbyodata.jp/ontology/NANDO_1200380	NANDO:1200380	KISS1	http://identifiers.org/ncbigene/3814	3814	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6341	HGNC:6341	KiSS-1 metastasis suppressor	This gene is a metastasis suppressor gene that suppresses metastases of melanomas and breast carcinomas without affecting tumorigenicity. The encoded protein may inhibit chemotaxis and invasion and thereby attenuate metastasis in malignant melanomas. Studies suggest a putative role in the regulation of events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. A protein product of this gene, kisspeptin, stimulates gonadotropin-releasing hormone (GnRH)-induced gonadotropin secretion and regulates the pubertal activation of GnRH nuerons. A polymorphism in the terminal exon of this mRNA results in two protein isoforms. An adenosine present at the polymorphic site represents the third position in a stop codon. When the adenosine is absent, a downstream stop codon is utilized and the encoded protein extends for an additional seven amino acid residues. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_1200381	NANDO:1200381	KISS1	http://identifiers.org/ncbigene/3814	3814	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6341	HGNC:6341	KiSS-1 metastasis suppressor	This gene is a metastasis suppressor gene that suppresses metastases of melanomas and breast carcinomas without affecting tumorigenicity. The encoded protein may inhibit chemotaxis and invasion and thereby attenuate metastasis in malignant melanomas. Studies suggest a putative role in the regulation of events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. A protein product of this gene, kisspeptin, stimulates gonadotropin-releasing hormone (GnRH)-induced gonadotropin secretion and regulates the pubertal activation of GnRH nuerons. A polymorphism in the terminal exon of this mRNA results in two protein isoforms. An adenosine present at the polymorphic site represents the third position in a stop codon. When the adenosine is absent, a downstream stop codon is utilized and the encoded protein extends for an additional seven amino acid residues. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_2200377	NANDO:2200377	KISS1	http://identifiers.org/ncbigene/3814	3814	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6341	HGNC:6341	KiSS-1 metastasis suppressor	This gene is a metastasis suppressor gene that suppresses metastases of melanomas and breast carcinomas without affecting tumorigenicity. The encoded protein may inhibit chemotaxis and invasion and thereby attenuate metastasis in malignant melanomas. Studies suggest a putative role in the regulation of events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. A protein product of this gene, kisspeptin, stimulates gonadotropin-releasing hormone (GnRH)-induced gonadotropin secretion and regulates the pubertal activation of GnRH nuerons. A polymorphism in the terminal exon of this mRNA results in two protein isoforms. An adenosine present at the polymorphic site represents the third position in a stop codon. When the adenosine is absent, a downstream stop codon is utilized and the encoded protein extends for an additional seven amino acid residues. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_1200380	NANDO:1200380	KISS1R	http://identifiers.org/ncbigene/84634	84634	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4510	HGNC:4510	KISS1 receptor	The protein encoded by this gene is a galanin-like G protein-coupled receptor that binds metastin, a peptide encoded by the metastasis suppressor gene KISS1. The tissue distribution of the expressed gene suggests that it is involved in the regulation of endocrine function, and this is supported by the finding that this gene appears to play a role in the onset of puberty. Mutations in this gene have been associated with hypogonadotropic hypogonadism and central precocious puberty. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200381	NANDO:1200381	KISS1R	http://identifiers.org/ncbigene/84634	84634	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4510	HGNC:4510	KISS1 receptor	The protein encoded by this gene is a galanin-like G protein-coupled receptor that binds metastin, a peptide encoded by the metastasis suppressor gene KISS1. The tissue distribution of the expressed gene suggests that it is involved in the regulation of endocrine function, and this is supported by the finding that this gene appears to play a role in the onset of puberty. Mutations in this gene have been associated with hypogonadotropic hypogonadism and central precocious puberty. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200377	NANDO:2200377	KISS1R	http://identifiers.org/ncbigene/84634	84634	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4510	HGNC:4510	KISS1 receptor	The protein encoded by this gene is a galanin-like G protein-coupled receptor that binds metastin, a peptide encoded by the metastasis suppressor gene KISS1. The tissue distribution of the expressed gene suggests that it is involved in the regulation of endocrine function, and this is supported by the finding that this gene appears to play a role in the onset of puberty. Mutations in this gene have been associated with hypogonadotropic hypogonadism and central precocious puberty. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200885	NANDO:1200885	KLF1	http://identifiers.org/ncbigene/10661	10661	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6345	HGNC:6345	Kruppel like factor 1	This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200477	NANDO:1200477	KLHL40	http://identifiers.org/ncbigene/131377	131377	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30372	HGNC:30372	kelch like family member 40	This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]
http://nanbyodata.jp/ontology/NANDO_1200478	NANDO:1200478	KLHL40	http://identifiers.org/ncbigene/131377	131377	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30372	HGNC:30372	kelch like family member 40	This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]
http://nanbyodata.jp/ontology/NANDO_1200477	NANDO:1200477	KLHL41	http://identifiers.org/ncbigene/10324	10324	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16905	HGNC:16905	kelch like family member 41	This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associated with nemaline myopathy (NM), a rare congenital muscle disorder. [provided by RefSeq, Mar 2015]
http://nanbyodata.jp/ontology/NANDO_1200478	NANDO:1200478	KLHL41	http://identifiers.org/ncbigene/10324	10324	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16905	HGNC:16905	kelch like family member 41	This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associated with nemaline myopathy (NM), a rare congenital muscle disorder. [provided by RefSeq, Mar 2015]
http://nanbyodata.jp/ontology/NANDO_2200001	NANDO:2200001	KMT2A	http://identifiers.org/ncbigene/4297	4297	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7132	HGNC:7132	lysine methyltransferase 2A	This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_2200004	NANDO:2200004	KMT2A	http://identifiers.org/ncbigene/4297	4297	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7132	HGNC:7132	lysine methyltransferase 2A	This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_2200005	NANDO:2200005	KMT2A	http://identifiers.org/ncbigene/4297	4297	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7132	HGNC:7132	lysine methyltransferase 2A	This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_2200006	NANDO:2200006	KMT2A	http://identifiers.org/ncbigene/4297	4297	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7132	HGNC:7132	lysine methyltransferase 2A	This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_2200007	NANDO:2200007	KMT2A	http://identifiers.org/ncbigene/4297	4297	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7132	HGNC:7132	lysine methyltransferase 2A	This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_2200008	NANDO:2200008	KMT2A	http://identifiers.org/ncbigene/4297	4297	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7132	HGNC:7132	lysine methyltransferase 2A	This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_2200009	NANDO:2200009	KMT2A	http://identifiers.org/ncbigene/4297	4297	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7132	HGNC:7132	lysine methyltransferase 2A	This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_2200010	NANDO:2200010	KMT2A	http://identifiers.org/ncbigene/4297	4297	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7132	HGNC:7132	lysine methyltransferase 2A	This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_2200011	NANDO:2200011	KMT2A	http://identifiers.org/ncbigene/4297	4297	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7132	HGNC:7132	lysine methyltransferase 2A	This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_2200016	NANDO:2200016	KMT2A	http://identifiers.org/ncbigene/4297	4297	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7132	HGNC:7132	lysine methyltransferase 2A	This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_2200019	NANDO:2200019	KMT2A	http://identifiers.org/ncbigene/4297	4297	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7132	HGNC:7132	lysine methyltransferase 2A	This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_2201415	NANDO:2201415	KMT2A	http://identifiers.org/ncbigene/4297	4297	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7132	HGNC:7132	lysine methyltransferase 2A	This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_2201417	NANDO:2201417	KMT2A	http://identifiers.org/ncbigene/4297	4297	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7132	HGNC:7132	lysine methyltransferase 2A	This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	KMT2B	http://identifiers.org/ncbigene/9757	9757	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15840	HGNC:15840	lysine methyltransferase 2B	This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200672	NANDO:1200672	KMT2D	http://identifiers.org/ncbigene/8085	8085	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7133	HGNC:7133	lysine methyltransferase 2D	The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_2200956	NANDO:2200956	KMT2D	http://identifiers.org/ncbigene/8085	8085	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7133	HGNC:7133	lysine methyltransferase 2D	The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_1200462	NANDO:1200462	KRAS	http://identifiers.org/ncbigene/3845	3845	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6407	HGNC:6407	KRAS proto-oncogene, GTPase	This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200680	NANDO:1200680	KRAS	http://identifiers.org/ncbigene/3845	3845	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6407	HGNC:6407	KRAS proto-oncogene, GTPase	This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200015	NANDO:2200015	KRAS	http://identifiers.org/ncbigene/3845	3845	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6407	HGNC:6407	KRAS proto-oncogene, GTPase	This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200811	NANDO:2200811	KRAS	http://identifiers.org/ncbigene/3845	3845	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6407	HGNC:6407	KRAS proto-oncogene, GTPase	This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200967	NANDO:2200967	KRAS	http://identifiers.org/ncbigene/3845	3845	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6407	HGNC:6407	KRAS proto-oncogene, GTPase	This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200609	NANDO:1200609	KRT1	http://identifiers.org/ncbigene/3848	3848	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6412	HGNC:6412	keratin 1	The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200987	NANDO:2200987	KRT1	http://identifiers.org/ncbigene/3848	3848	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6412	HGNC:6412	keratin 1	The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200609	NANDO:1200609	KRT10	http://identifiers.org/ncbigene/3858	3858	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6413	HGNC:6413	keratin 10	This gene encodes a member of the type I (acidic) cytokeratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. Mutations in this gene are associated with epidermolytic hyperkeratosis. This gene is located within a cluster of keratin family members on chromosome 17q21. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200987	NANDO:2200987	KRT10	http://identifiers.org/ncbigene/3858	3858	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6413	HGNC:6413	keratin 10	This gene encodes a member of the type I (acidic) cytokeratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. Mutations in this gene are associated with epidermolytic hyperkeratosis. This gene is located within a cluster of keratin family members on chromosome 17q21. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200234	NANDO:1200234	KRT14	http://identifiers.org/ncbigene/3861	3861	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6416	HGNC:6416	keratin 14	This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200235	NANDO:1200235	KRT14	http://identifiers.org/ncbigene/3861	3861	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6416	HGNC:6416	keratin 14	This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201000	NANDO:2201000	KRT14	http://identifiers.org/ncbigene/3861	3861	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6416	HGNC:6416	keratin 14	This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201341	NANDO:2201341	KRT14	http://identifiers.org/ncbigene/3861	3861	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6416	HGNC:6416	keratin 14	This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200609	NANDO:1200609	KRT2	http://identifiers.org/ncbigene/3849	3849	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6439	HGNC:6439	keratin 2	The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is expressed largely in the upper spinous layer of epidermal keratinocytes and mutations in this gene have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200987	NANDO:2200987	KRT2	http://identifiers.org/ncbigene/3849	3849	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6439	HGNC:6439	keratin 2	The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is expressed largely in the upper spinous layer of epidermal keratinocytes and mutations in this gene have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200234	NANDO:1200234	KRT5	http://identifiers.org/ncbigene/3852	3852	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6442	HGNC:6442	keratin 5	The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200235	NANDO:1200235	KRT5	http://identifiers.org/ncbigene/3852	3852	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6442	HGNC:6442	keratin 5	The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201000	NANDO:2201000	KRT5	http://identifiers.org/ncbigene/3852	3852	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6442	HGNC:6442	keratin 5	The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201341	NANDO:2201341	KRT5	http://identifiers.org/ncbigene/3852	3852	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6442	HGNC:6442	keratin 5	The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200822	NANDO:2200822	L1CAM	http://identifiers.org/ncbigene/3897	3897	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6470	HGNC:6470	L1 cell adhesion molecule	The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013]
http://nanbyodata.jp/ontology/NANDO_2200120	NANDO:2200120	LAGE3	http://identifiers.org/ncbigene/8270	8270	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26058	HGNC:26058	L antigen family member 3	This gene belongs to the ESO/LAGE gene family, members of which are clustered together on chromosome Xq28, and have similar exon-intron structures. Unlike the other family members which are normally expressed only in testis and activated in a wide range of human tumors, this gene is ubiquitously expressed in somatic tissues. The latter, combined with the finding that it is highly conserved in mouse and rat, suggests that the encoded protein is functionally important. An intronless pseudogene with high sequence similarity to this gene is located on chromosome 9. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201385	NANDO:2201385	LAGE3	http://identifiers.org/ncbigene/8270	8270	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26058	HGNC:26058	L antigen family member 3	This gene belongs to the ESO/LAGE gene family, members of which are clustered together on chromosome Xq28, and have similar exon-intron structures. Unlike the other family members which are normally expressed only in testis and activated in a wide range of human tumors, this gene is ubiquitously expressed in somatic tissues. The latter, combined with the finding that it is highly conserved in mouse and rat, suggests that the encoded protein is functionally important. An intronless pseudogene with high sequence similarity to this gene is located on chromosome 9. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	LAMA2	http://identifiers.org/ncbigene/3908	3908	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6482	HGNC:6482	laminin subunit alpha 2	Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200861	NANDO:2200861	LAMA2	http://identifiers.org/ncbigene/3908	3908	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6482	HGNC:6482	laminin subunit alpha 2	Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	LAMA2	http://identifiers.org/ncbigene/3908	3908	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6482	HGNC:6482	laminin subunit alpha 2	Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200234	NANDO:1200234	LAMA3	http://identifiers.org/ncbigene/3909	3909	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6483	HGNC:6483	laminin subunit alpha 3	The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]
http://nanbyodata.jp/ontology/NANDO_1200236	NANDO:1200236	LAMA3	http://identifiers.org/ncbigene/3909	3909	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6483	HGNC:6483	laminin subunit alpha 3	The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]
http://nanbyodata.jp/ontology/NANDO_1201065	NANDO:1201065	LAMA3	http://identifiers.org/ncbigene/3909	3909	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6483	HGNC:6483	laminin subunit alpha 3	The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]
http://nanbyodata.jp/ontology/NANDO_1201066	NANDO:1201066	LAMA3	http://identifiers.org/ncbigene/3909	3909	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6483	HGNC:6483	laminin subunit alpha 3	The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]
http://nanbyodata.jp/ontology/NANDO_2201000	NANDO:2201000	LAMA3	http://identifiers.org/ncbigene/3909	3909	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6483	HGNC:6483	laminin subunit alpha 3	The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]
http://nanbyodata.jp/ontology/NANDO_2201342	NANDO:2201342	LAMA3	http://identifiers.org/ncbigene/3909	3909	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6483	HGNC:6483	laminin subunit alpha 3	The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]
http://nanbyodata.jp/ontology/NANDO_2201378	NANDO:2201378	LAMA3	http://identifiers.org/ncbigene/3909	3909	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6483	HGNC:6483	laminin subunit alpha 3	The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]
http://nanbyodata.jp/ontology/NANDO_2201379	NANDO:2201379	LAMA3	http://identifiers.org/ncbigene/3909	3909	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6483	HGNC:6483	laminin subunit alpha 3	The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]
http://nanbyodata.jp/ontology/NANDO_1200021	NANDO:1200021	LAMB2	http://identifiers.org/ncbigene/3913	3913	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6487	HGNC:6487	laminin subunit beta 2	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 2. The beta 2 chain contains the 7 structural domains typical of beta chains of laminin, including the short alpha region. However, unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It is enriched in the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice in which the beta 2 chain gene was inactivated by homologous recombination, showed defects in the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a non consensus 5' splice site (gc) in the 5' UTR of this gene has been reported. It was suggested that inefficient splicing of this first intron, which does not change the protein sequence, results in a greater abundance of the unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_1200234	NANDO:1200234	LAMB3	http://identifiers.org/ncbigene/3914	3914	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6490	HGNC:6490	laminin subunit beta 3	The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200236	NANDO:1200236	LAMB3	http://identifiers.org/ncbigene/3914	3914	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6490	HGNC:6490	laminin subunit beta 3	The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201065	NANDO:1201065	LAMB3	http://identifiers.org/ncbigene/3914	3914	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6490	HGNC:6490	laminin subunit beta 3	The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201066	NANDO:1201066	LAMB3	http://identifiers.org/ncbigene/3914	3914	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6490	HGNC:6490	laminin subunit beta 3	The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201000	NANDO:2201000	LAMB3	http://identifiers.org/ncbigene/3914	3914	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6490	HGNC:6490	laminin subunit beta 3	The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201342	NANDO:2201342	LAMB3	http://identifiers.org/ncbigene/3914	3914	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6490	HGNC:6490	laminin subunit beta 3	The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201378	NANDO:2201378	LAMB3	http://identifiers.org/ncbigene/3914	3914	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6490	HGNC:6490	laminin subunit beta 3	The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201379	NANDO:2201379	LAMB3	http://identifiers.org/ncbigene/3914	3914	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6490	HGNC:6490	laminin subunit beta 3	The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200234	NANDO:1200234	LAMC2	http://identifiers.org/ncbigene/3918	3918	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6493	HGNC:6493	laminin subunit gamma 2	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_1200236	NANDO:1200236	LAMC2	http://identifiers.org/ncbigene/3918	3918	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6493	HGNC:6493	laminin subunit gamma 2	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_1201065	NANDO:1201065	LAMC2	http://identifiers.org/ncbigene/3918	3918	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6493	HGNC:6493	laminin subunit gamma 2	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_1201066	NANDO:1201066	LAMC2	http://identifiers.org/ncbigene/3918	3918	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6493	HGNC:6493	laminin subunit gamma 2	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_2201000	NANDO:2201000	LAMC2	http://identifiers.org/ncbigene/3918	3918	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6493	HGNC:6493	laminin subunit gamma 2	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_2201342	NANDO:2201342	LAMC2	http://identifiers.org/ncbigene/3918	3918	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6493	HGNC:6493	laminin subunit gamma 2	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_2201378	NANDO:2201378	LAMC2	http://identifiers.org/ncbigene/3918	3918	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6493	HGNC:6493	laminin subunit gamma 2	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_2201379	NANDO:2201379	LAMC2	http://identifiers.org/ncbigene/3918	3918	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6493	HGNC:6493	laminin subunit gamma 2	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	LAMP2	http://identifiers.org/ncbigene/3920	3920	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6501	HGNC:6501	lysosomal associated membrane protein 2	The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200145	NANDO:1200145	LAMP2	http://identifiers.org/ncbigene/3920	3920	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6501	HGNC:6501	lysosomal associated membrane protein 2	The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200221	NANDO:1200221	LAMP2	http://identifiers.org/ncbigene/3920	3920	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6501	HGNC:6501	lysosomal associated membrane protein 2	The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200222	NANDO:1200222	LAMP2	http://identifiers.org/ncbigene/3920	3920	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6501	HGNC:6501	lysosomal associated membrane protein 2	The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	LAMTOR2	http://identifiers.org/ncbigene/28956	28956	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29796	HGNC:29796	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway. In humans, a mutation in this gene has been associated with a primary immunodeficiency syndrome, and suggests a role for this protein in endosomal biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_2200747	NANDO:2200747	LAMTOR2	http://identifiers.org/ncbigene/28956	28956	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29796	HGNC:29796	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway. In humans, a mutation in this gene has been associated with a primary immunodeficiency syndrome, and suggests a role for this protein in endosomal biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_2200752	NANDO:2200752	LAMTOR2	http://identifiers.org/ncbigene/28956	28956	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29796	HGNC:29796	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway. In humans, a mutation in this gene has been associated with a primary immunodeficiency syndrome, and suggests a role for this protein in endosomal biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	LARGE1	http://identifiers.org/ncbigene/9215	9215	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6511	HGNC:6511	LARGE xylosyl- and glucuronyltransferase 1	This gene encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. The protein encoded by this gene is the glycotransferase that adds the final xylose and glucuronic acid to alpha-dystroglycan and thereby allows alpha-dystroglycan to bind ligands including laminin 211 and neurexin. Mutations in this gene cause several forms of congenital muscular dystrophy characterized by cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2018]
http://nanbyodata.jp/ontology/NANDO_2201017	NANDO:2201017	LBR	http://identifiers.org/ncbigene/3930	3930	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6518	HGNC:6518	lamin B receptor	The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201361	NANDO:2201361	LBR	http://identifiers.org/ncbigene/3930	3930	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6518	HGNC:6518	lamin B receptor	The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200852	NANDO:1200852	LCAT	http://identifiers.org/ncbigene/3931	3931	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6522	HGNC:6522	lecithin-cholesterol acyltransferase	This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as LCAT deficiency. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200605	NANDO:2200605	LCAT	http://identifiers.org/ncbigene/3931	3931	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6522	HGNC:6522	lecithin-cholesterol acyltransferase	This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as LCAT deficiency. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200623	NANDO:2200623	LCAT	http://identifiers.org/ncbigene/3931	3931	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6522	HGNC:6522	lecithin-cholesterol acyltransferase	This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as LCAT deficiency. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200907	NANDO:2200907	LCT	http://identifiers.org/ncbigene/3938	3938	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6530	HGNC:6530	lactase	The protein encoded by this gene belongs to the glycosyl hydrolase 1 family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme is integral to the plasma membrane and has both phlorizin hydrolase activity and lactase activity. Mutations in this gene are associated with congenital lactase deficiency. Polymorphisms in this gene are associated with lactase persistence, in which intestinal lactase activity persists at childhood levels into adulthood. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1200032	NANDO:1200032	LDB3	http://identifiers.org/ncbigene/11155	11155	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15710	HGNC:15710	LIM domain binding 3	This gene encodes a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with each other in cytoskeletal assembly or with other proteins involved in targeting and clustering of membrane proteins. The protein encoded by this gene interacts with alpha-actinin-2 through its N-terminal PDZ domain and with protein kinase C via its C-terminal LIM domains. The LIM domain is a cysteine-rich motif defined by 50-60 amino acids containing two zinc-binding modules. This protein also interacts with all three members of the myozenin family. Mutations in this gene have been associated with myofibrillar myopathy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been identified; all isoforms have N-terminal PDZ domains while only longer isoforms (1, 2 and 5) have C-terminal LIM domains. [provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_1200216	NANDO:1200216	LDB3	http://identifiers.org/ncbigene/11155	11155	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15710	HGNC:15710	LIM domain binding 3	This gene encodes a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with each other in cytoskeletal assembly or with other proteins involved in targeting and clustering of membrane proteins. The protein encoded by this gene interacts with alpha-actinin-2 through its N-terminal PDZ domain and with protein kinase C via its C-terminal LIM domains. The LIM domain is a cysteine-rich motif defined by 50-60 amino acids containing two zinc-binding modules. This protein also interacts with all three members of the myozenin family. Mutations in this gene have been associated with myofibrillar myopathy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been identified; all isoforms have N-terminal PDZ domains while only longer isoforms (1, 2 and 5) have C-terminal LIM domains. [provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_1200823	NANDO:1200823	LDHA	http://identifiers.org/ncbigene/3939	3939	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6535	HGNC:6535	lactate dehydrogenase A	The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. Multiple transcript variants encoding different isoforms have been found for this gene. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2008]
http://nanbyodata.jp/ontology/NANDO_1200833	NANDO:1200833	LDHA	http://identifiers.org/ncbigene/3939	3939	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6535	HGNC:6535	lactate dehydrogenase A	The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. Multiple transcript variants encoding different isoforms have been found for this gene. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2008]
http://nanbyodata.jp/ontology/NANDO_1200394	NANDO:1200394	LDLR	http://identifiers.org/ncbigene/3949	3949	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6547	HGNC:6547	low density lipoprotein receptor	The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
http://nanbyodata.jp/ontology/NANDO_2200602	NANDO:2200602	LDLR	http://identifiers.org/ncbigene/3949	3949	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6547	HGNC:6547	low density lipoprotein receptor	The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
http://nanbyodata.jp/ontology/NANDO_1200394	NANDO:1200394	LDLRAP1	http://identifiers.org/ncbigene/26119	26119	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18640	HGNC:18640	low density lipoprotein receptor adaptor protein 1	The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200602	NANDO:2200602	LDLRAP1	http://identifiers.org/ncbigene/26119	26119	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18640	HGNC:18640	low density lipoprotein receptor adaptor protein 1	The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201022	NANDO:2201022	LEMD3	http://identifiers.org/ncbigene/23592	23592	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28887	HGNC:28887	LEM domain containing 3	This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_2201024	NANDO:2201024	LEMD3	http://identifiers.org/ncbigene/23592	23592	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28887	HGNC:28887	LEM domain containing 3	This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_2200392	NANDO:2200392	LHCGR	http://identifiers.org/ncbigene/3973	3973	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6585	HGNC:6585	luteinizing hormone/choriogonadotropin receptor	This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200518	NANDO:2200518	LIAS	http://identifiers.org/ncbigene/11019	11019	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16429	HGNC:16429	lipoic acid synthetase	The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. Localized in the mitochondrion, this iron-sulfur enzyme catalyzes the final step in the de novo pathway for the biosynthesis of lipoic acid, a potent antioxidant. The deficient expression of this enzyme has been linked to conditions such as diabetes, atherosclerosis and neonatal-onset epilepsy. Alternative splicing occurs at this locus, and several transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_1200224	NANDO:1200224	LIFR	http://identifiers.org/ncbigene/3977	3977	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6597	HGNC:6597	LIF receptor subunit alpha	This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2018]
http://nanbyodata.jp/ontology/NANDO_2200426	NANDO:2200426	LILRA2	http://identifiers.org/ncbigene/11027	11027	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6603	HGNC:6603	leukocyte immunoglobulin like receptor A2	This gene encodes a member of a family of immunoreceptors that are expressed predominantly on monocytes and B cells, and at lower levels on dendritic cells and natural killer cells. The encoded protein is an activating receptor that inhibits dendritic cell differentiation and antigen presentation and suppresses innate immune response. Alternatively spliced transcript variants encoding different isoforms have been found. This gene is located in a cluster of related genes on chromosome 19 and there is a pseudogene for this gene on chromosome 3. [provided by RefSeq, Mar 2014]
http://nanbyodata.jp/ontology/NANDO_2200286	NANDO:2200286	LIMK1	http://identifiers.org/ncbigene/3984	3984	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6613	HGNC:6613	LIM domain kinase 1	There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. LIMK1 is a serine/threonine kinase that regulates actin polymerization via phosphorylation and inactivation of the actin binding factor cofilin. This protein is ubiquitously expressed during development and plays a role in many cellular processes associated with cytoskeletal structure. This protein also stimulates axon growth and may play a role in brain development. LIMK1 hemizygosity is implicated in the impaired visuospatial constructive cognition of Williams syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	LIPA	http://identifiers.org/ncbigene/3988	3988	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6617	HGNC:6617	lipase A, lysosomal acid type	This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
http://nanbyodata.jp/ontology/NANDO_1200142	NANDO:1200142	LIPA	http://identifiers.org/ncbigene/3988	3988	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6617	HGNC:6617	lipase A, lysosomal acid type	This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
http://nanbyodata.jp/ontology/NANDO_2200570	NANDO:2200570	LIPA	http://identifiers.org/ncbigene/3988	3988	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6617	HGNC:6617	lipase A, lysosomal acid type	This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	LITAF	http://identifiers.org/ncbigene/9516	9516	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16841	HGNC:16841	lipopolysaccharide induced TNF factor	Lipopolysaccharide is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor-alpha (TNF-alpha) and other inflammatory mediators. This gene encodes lipopolysaccharide-induced TNF-alpha factor, which is a DNA-binding protein and can mediate the TNF-alpha expression by direct binding to the promoter region of the TNF-alpha gene. The transcription of this gene is induced by tumor suppressor p53 and has been implicated in the p53-induced apoptotic pathway. Mutations in this gene cause Charcot-Marie-Tooth disease type 1C (CMT1C) and may be involved in the carcinogenesis of extramammary Paget's disease (EMPD). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2014]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	LMNA	http://identifiers.org/ncbigene/4000	4000	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6636	HGNC:6636	lamin A/C	The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_1200285	NANDO:1200285	LMNA	http://identifiers.org/ncbigene/4000	4000	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6636	HGNC:6636	lamin A/C	The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	LMNA	http://identifiers.org/ncbigene/4000	4000	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6636	HGNC:6636	lamin A/C	The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_1200858	NANDO:1200858	LMNA	http://identifiers.org/ncbigene/4000	4000	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6636	HGNC:6636	lamin A/C	The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_1200861	NANDO:1200861	LMNA	http://identifiers.org/ncbigene/4000	4000	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6636	HGNC:6636	lamin A/C	The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_1201007	NANDO:1201007	LMNA	http://identifiers.org/ncbigene/4000	4000	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6636	HGNC:6636	lamin A/C	The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_2200404	NANDO:2200404	LMNA	http://identifiers.org/ncbigene/4000	4000	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6636	HGNC:6636	lamin A/C	The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_2200833	NANDO:2200833	LMNA	http://identifiers.org/ncbigene/4000	4000	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6636	HGNC:6636	lamin A/C	The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_2200857	NANDO:2200857	LMNA	http://identifiers.org/ncbigene/4000	4000	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6636	HGNC:6636	lamin A/C	The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	LMNA	http://identifiers.org/ncbigene/4000	4000	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6636	HGNC:6636	lamin A/C	The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_2200866	NANDO:2200866	LMNA	http://identifiers.org/ncbigene/4000	4000	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6636	HGNC:6636	lamin A/C	The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_2201443	NANDO:2201443	LMNA	http://identifiers.org/ncbigene/4000	4000	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6636	HGNC:6636	lamin A/C	The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_2201446	NANDO:2201446	LMNA	http://identifiers.org/ncbigene/4000	4000	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6636	HGNC:6636	lamin A/C	The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_1201107	NANDO:1201107	LMNB1	http://identifiers.org/ncbigene/4001	4001	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6637	HGNC:6637	lamin B1	This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_1200477	NANDO:1200477	LMOD3	http://identifiers.org/ncbigene/56203	56203	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6649	HGNC:6649	leiomodin 3	The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Localization of this protein to the pointed ends of thin filaments has been observed, and there is evidence that this protein acts as a catalyst of actin nucleation, and is important to the organization of sarcomeric thin filaments in skeletal muscles. Mutations in this gene have been associated as one cause of Nemaline myopathy, as other genes have also been linked to this disorder. Nemaline myopathy is a disorder characterized by nonprogressive generalized muscle weakness and protein inclusions (nemaline bodies) in skeletal myofibers. Patients with mutations in this gene often present with a severe congenital form of the disorder. [provided by RefSeq, Jan 2015]
http://nanbyodata.jp/ontology/NANDO_1200478	NANDO:1200478	LMOD3	http://identifiers.org/ncbigene/56203	56203	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6649	HGNC:6649	leiomodin 3	The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Localization of this protein to the pointed ends of thin filaments has been observed, and there is evidence that this protein acts as a catalyst of actin nucleation, and is important to the organization of sarcomeric thin filaments in skeletal muscles. Mutations in this gene have been associated as one cause of Nemaline myopathy, as other genes have also been linked to this disorder. Nemaline myopathy is a disorder characterized by nonprogressive generalized muscle weakness and protein inclusions (nemaline bodies) in skeletal myofibers. Patients with mutations in this gene often present with a severe congenital form of the disorder. [provided by RefSeq, Jan 2015]
http://nanbyodata.jp/ontology/NANDO_1200966	NANDO:1200966	LMX1B	http://identifiers.org/ncbigene/4010	4010	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6654	HGNC:6654	LIM homeobox transcription factor 1 beta	This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200967	NANDO:1200967	LMX1B	http://identifiers.org/ncbigene/4010	4010	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6654	HGNC:6654	LIM homeobox transcription factor 1 beta	This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200968	NANDO:1200968	LMX1B	http://identifiers.org/ncbigene/4010	4010	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6654	HGNC:6654	LIM homeobox transcription factor 1 beta	This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200111	NANDO:2200111	LMX1B	http://identifiers.org/ncbigene/4010	4010	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6654	HGNC:6654	LIM homeobox transcription factor 1 beta	This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200132	NANDO:2200132	LMX1B	http://identifiers.org/ncbigene/4010	4010	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6654	HGNC:6654	LIM homeobox transcription factor 1 beta	This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200438	NANDO:2200438	LPIN2	http://identifiers.org/ncbigene/9663	9663	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14450	HGNC:14450	lipin 2	Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride metabolism. This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200440	NANDO:2200440	LPIN2	http://identifiers.org/ncbigene/9663	9663	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14450	HGNC:14450	lipin 2	Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride metabolism. This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200453	NANDO:2200453	LPIN2	http://identifiers.org/ncbigene/9663	9663	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14450	HGNC:14450	lipin 2	Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride metabolism. This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200855	NANDO:1200855	LPL	http://identifiers.org/ncbigene/4023	4023	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6677	HGNC:6677	lipoprotein lipase	LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200601	NANDO:2200601	LPL	http://identifiers.org/ncbigene/4023	4023	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6677	HGNC:6677	lipoprotein lipase	LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200603	NANDO:2200603	LPL	http://identifiers.org/ncbigene/4023	4023	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6677	HGNC:6677	lipoprotein lipase	LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200717	NANDO:2200717	LRBA	http://identifiers.org/ncbigene/987	987	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1742	HGNC:1742	LPS responsive beige-like anchor protein	The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
http://nanbyodata.jp/ontology/NANDO_1200637	NANDO:1200637	LRMDA	http://identifiers.org/ncbigene/83938	83938	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23405	HGNC:23405	leucine rich melanocyte differentiation associated	This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
http://nanbyodata.jp/ontology/NANDO_1200641	NANDO:1200641	LRMDA	http://identifiers.org/ncbigene/83938	83938	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23405	HGNC:23405	leucine rich melanocyte differentiation associated	This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
http://nanbyodata.jp/ontology/NANDO_2200986	NANDO:2200986	LRMDA	http://identifiers.org/ncbigene/83938	83938	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23405	HGNC:23405	leucine rich melanocyte differentiation associated	This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
http://nanbyodata.jp/ontology/NANDO_1200216	NANDO:1200216	LRP12	http://identifiers.org/ncbigene/29967	29967	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:31708	HGNC:31708	LDL receptor related protein 12	This gene encodes a member of the low-density lipoprotein receptor related protein family. The product of this gene is a transmembrane protein that is differentially expressed in many cancer cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1200219	NANDO:1200219	LRP12	http://identifiers.org/ncbigene/29967	29967	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:31708	HGNC:31708	LDL receptor related protein 12	This gene encodes a member of the low-density lipoprotein receptor related protein family. The product of this gene is a transmembrane protein that is differentially expressed in many cancer cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1200021	NANDO:1200021	LRP4	http://identifiers.org/ncbigene/4038	4038	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6696	HGNC:6696	LDL receptor related protein 4	This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_1200998	NANDO:1200998	LRP5	http://identifiers.org/ncbigene/4041	4041	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6697	HGNC:6697	LDL receptor related protein 5	This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_2201013	NANDO:2201013	LRP5	http://identifiers.org/ncbigene/4041	4041	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6697	HGNC:6697	LDL receptor related protein 5	This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	LRSAM1	http://identifiers.org/ncbigene/90678	90678	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25135	HGNC:25135	leucine rich repeat and sterile alpha motif containing 1	This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	LYST	http://identifiers.org/ncbigene/1130	1130	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1968	HGNC:1968	lysosomal trafficking regulator	This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013]
http://nanbyodata.jp/ontology/NANDO_1200350	NANDO:1200350	LYST	http://identifiers.org/ncbigene/1130	1130	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1968	HGNC:1968	lysosomal trafficking regulator	This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013]
http://nanbyodata.jp/ontology/NANDO_1200637	NANDO:1200637	LYST	http://identifiers.org/ncbigene/1130	1130	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1968	HGNC:1968	lysosomal trafficking regulator	This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013]
http://nanbyodata.jp/ontology/NANDO_1200639	NANDO:1200639	LYST	http://identifiers.org/ncbigene/1130	1130	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1968	HGNC:1968	lysosomal trafficking regulator	This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013]
http://nanbyodata.jp/ontology/NANDO_2200724	NANDO:2200724	LYST	http://identifiers.org/ncbigene/1130	1130	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1968	HGNC:1968	lysosomal trafficking regulator	This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013]
http://nanbyodata.jp/ontology/NANDO_2200986	NANDO:2200986	LYST	http://identifiers.org/ncbigene/1130	1130	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1968	HGNC:1968	lysosomal trafficking regulator	This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013]
http://nanbyodata.jp/ontology/NANDO_1200209	NANDO:1200209	LYZ	http://identifiers.org/ncbigene/4069	4069	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6740	HGNC:6740	lysozyme	This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine). Lysozyme is one of the antimicrobial agents found in human milk, and is also present in spleen, lung, kidney, white blood cells, plasma, saliva, and tears. The protein has antibacterial activity against a number of bacterial species. Missense mutations in this gene have been identified in heritable renal amyloidosis. [provided by RefSeq, Oct 2014]
http://nanbyodata.jp/ontology/NANDO_1200213	NANDO:1200213	LYZ	http://identifiers.org/ncbigene/4069	4069	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6740	HGNC:6740	lysozyme	This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine). Lysozyme is one of the antimicrobial agents found in human milk, and is also present in spleen, lung, kidney, white blood cells, plasma, saliva, and tears. The protein has antibacterial activity against a number of bacterial species. Missense mutations in this gene have been identified in heritable renal amyloidosis. [provided by RefSeq, Oct 2014]
http://nanbyodata.jp/ontology/NANDO_1200680	NANDO:1200680	LZTR1	http://identifiers.org/ncbigene/8216	8216	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6742	HGNC:6742	leucine zipper like transcription regulator 1	This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200111	NANDO:2200111	LamB2	http://identifiers.org/ncbigene/3913	3913	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6487	HGNC:6487	laminin subunit beta 2	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 2. The beta 2 chain contains the 7 structural domains typical of beta chains of laminin, including the short alpha region. However, unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It is enriched in the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice in which the beta 2 chain gene was inactivated by homologous recombination, showed defects in the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a non consensus 5' splice site (gc) in the 5' UTR of this gene has been reported. It was suggested that inefficient splicing of this first intron, which does not change the protein sequence, results in a greater abundance of the unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_1200891	NANDO:1200891	MAD2L2	http://identifiers.org/ncbigene/10459	10459	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6764	HGNC:6764	mitotic arrest deficient 2 like 2	The protein encoded by this gene is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. The encoded protein, which is similar to MAD2L1, is capable of interacting with ADAM9, ADAM15, REV1, and REV3 proteins. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201525	NANDO:2201525	MAGEL2	http://identifiers.org/ncbigene/54551	54551	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6814	HGNC:6814	MAGE family member L2	Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13 region. Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-onset obesity. Necdin (NDN), a gene involved in the terminal differentiation of neurons, localizes to this region of the genome and has been implicated as one of the genes responsible for the etiology of PWS. This gene is structurally similar to NDN, is also localized to the PWS chromosomal region, and is paternally imprinted, suggesting a possible role for it in PWS. [provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	MAN2B1	http://identifiers.org/ncbigene/4125	4125	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6826	HGNC:6826	mannosidase alpha class 2B member 1	This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200126	NANDO:1200126	MAN2B1	http://identifiers.org/ncbigene/4125	4125	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6826	HGNC:6826	mannosidase alpha class 2B member 1	This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200554	NANDO:2200554	MAN2B1	http://identifiers.org/ncbigene/4125	4125	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6826	HGNC:6826	mannosidase alpha class 2B member 1	This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	MANBA	http://identifiers.org/ncbigene/4126	4126	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6831	HGNC:6831	mannosidase beta	This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200129	NANDO:1200129	MANBA	http://identifiers.org/ncbigene/4126	4126	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6831	HGNC:6831	mannosidase beta	This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200554	NANDO:2200554	MANBA	http://identifiers.org/ncbigene/4126	4126	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6831	HGNC:6831	mannosidase beta	This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200462	NANDO:1200462	MAP2K1	http://identifiers.org/ncbigene/5604	5604	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6840	HGNC:6840	mitogen-activated protein kinase kinase 1	The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200031	NANDO:2200031	MAP2K1	http://identifiers.org/ncbigene/5604	5604	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6840	HGNC:6840	mitogen-activated protein kinase kinase 1	The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200967	NANDO:2200967	MAP2K1	http://identifiers.org/ncbigene/5604	5604	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6840	HGNC:6840	mitogen-activated protein kinase kinase 1	The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200462	NANDO:1200462	MAP2K2	http://identifiers.org/ncbigene/5605	5605	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6842	HGNC:6842	mitogen-activated protein kinase kinase 2	The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, cognitive disability, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200967	NANDO:2200967	MAP2K2	http://identifiers.org/ncbigene/5605	5605	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6842	HGNC:6842	mitogen-activated protein kinase kinase 2	The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, cognitive disability, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200031	NANDO:2200031	MAP3K1	http://identifiers.org/ncbigene/4214	4214	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6848	HGNC:6848	mitogen-activated protein kinase kinase kinase 1	The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other proteins. This protein has E3 ligase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_2200383	NANDO:2200383	MAP3K1	http://identifiers.org/ncbigene/4214	4214	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6848	HGNC:6848	mitogen-activated protein kinase kinase kinase 1	The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other proteins. This protein has E3 ligase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	MAPKBP1	http://identifiers.org/ncbigene/23005	23005	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29536	HGNC:29536	mitogen-activated protein kinase binding protein 1	This gene encodes a scaffold protein that regulates the JNK (c-Jun N-terminal kinase) and NOD2 (nucleotide-binding oligomerization domain-containing protein 2) signaling pathways. The encoded protein interacts with another related JNK pathway scaffold protein, WDR62, via a conserved dimerization domain, and enhances JNK signaling. This protein may play a role in bacterial immunity by binding to the NOD2 receptor and negatively regulating downstream antibacterial and pro-inflammatory signaling. Mutations in this gene that impair cellular localization of the encoded protein cause a form of nephronophthisis, an autosomal-recessive kidney disorder, in human patients. [provided by RefSeq, May 2017]
http://nanbyodata.jp/ontology/NANDO_1200548	NANDO:1200548	MAPT	http://identifiers.org/ncbigene/4137	4137	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6893	HGNC:6893	microtubule associated protein tau	This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200953	NANDO:1200953	MARCHF6	http://identifiers.org/ncbigene/10299	10299	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30550	HGNC:30550	membrane associated ring-CH-type finger 6	This gene encodes a member of a family of membrane-associated E3 ubiquitin ligases containing RING-CH-type zinc finger motifs. Ubiquitination of type II deiodinase by the encoded protein is an important regulatory step in thyroid hormone signalling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	MARS1	http://identifiers.org/ncbigene/4141	4141	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6898	HGNC:6898	methionyl-tRNA synthetase 1	This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. The encoded protein is a component of the multi-tRNA synthetase complex and catalyzes the ligation of methionine to tRNA molecules. [provided by RefSeq, Jan 2011]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	MASP1	http://identifiers.org/ncbigene/5648	5648	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6901	HGNC:6901	MBL associated serine protease 1	This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
http://nanbyodata.jp/ontology/NANDO_1200364	NANDO:1200364	MASP1	http://identifiers.org/ncbigene/5648	5648	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6901	HGNC:6901	MBL associated serine protease 1	This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
http://nanbyodata.jp/ontology/NANDO_2200776	NANDO:2200776	MASP1	http://identifiers.org/ncbigene/5648	5648	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6901	HGNC:6901	MBL associated serine protease 1	This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	MASP2	http://identifiers.org/ncbigene/10747	10747	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6902	HGNC:6902	MBL associated serine protease 2	This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature protease. This protease cleaves complement components C2 and C4 in order to generate C3 convertase in the lectin pathway of the complement system. The encoded protease also plays a role in the coagulation cascade through cleavage of prothrombin to form thrombin. Myocardial infarction and acute stroke patients exhibit reduced serum concentrations of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_1200364	NANDO:1200364	MASP2	http://identifiers.org/ncbigene/10747	10747	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6902	HGNC:6902	MBL associated serine protease 2	This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature protease. This protease cleaves complement components C2 and C4 in order to generate C3 convertase in the lectin pathway of the complement system. The encoded protease also plays a role in the coagulation cascade through cleavage of prothrombin to form thrombin. Myocardial infarction and acute stroke patients exhibit reduced serum concentrations of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_2200776	NANDO:2200776	MASP2	http://identifiers.org/ncbigene/10747	10747	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6902	HGNC:6902	MBL associated serine protease 2	This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature protease. This protease cleaves complement components C2 and C4 in order to generate C3 convertase in the lectin pathway of the complement system. The encoded protease also plays a role in the coagulation cascade through cleavage of prothrombin to form thrombin. Myocardial infarction and acute stroke patients exhibit reduced serum concentrations of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_2200793	NANDO:2200793	MASP2	http://identifiers.org/ncbigene/10747	10747	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6902	HGNC:6902	MBL associated serine protease 2	This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature protease. This protease cleaves complement components C2 and C4 in order to generate C3 convertase in the lectin pathway of the complement system. The encoded protease also plays a role in the coagulation cascade through cleavage of prothrombin to form thrombin. Myocardial infarction and acute stroke patients exhibit reduced serum concentrations of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_2200475	NANDO:2200475	MAT1A	http://identifiers.org/ncbigene/4143	4143	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6903	HGNC:6903	methionine adenosyltransferase 1A	This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200216	NANDO:1200216	MATR3	http://identifiers.org/ncbigene/9782	9782	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6912	HGNC:6912	matrin 3	This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts composed of the upstream small nucleolar RNA host gene 4 (non-protein coding) and matrin 3 gene sequence, have been identified. Pseudogenes of this gene are located on chromosomes 1 and X. [provided by RefSeq, Aug 2013]
http://nanbyodata.jp/ontology/NANDO_1200575	NANDO:1200575	MBP	http://identifiers.org/ncbigene/4155	4155	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6925	HGNC:6925	myelin basic protein	"The protein encoded by the classic MBP gene is a major constituent of the myelin sheath of oligodendrocytes and Schwann cells in the nervous system. However, MBP-related transcripts are also present in the bone marrow and the immune system. These mRNAs arise from the long MBP gene (otherwise called ""Golli-MBP"") that contains 3 additional exons located upstream of the classic MBP exons. Alternative splicing from the Golli and the MBP transcription start sites gives rise to 2 sets of MBP-related transcripts and gene products. The Golli mRNAs contain 3 exons unique to Golli-MBP, spliced in-frame to 1 or more MBP exons. They encode hybrid proteins that have N-terminal Golli aa sequence linked to MBP aa sequence. The second family of transcripts contain only MBP exons and produce the well characterized myelin basic proteins. This complex gene structure is conserved among species suggesting that the MBP transcription unit is an integral part of the Golli transcription unit and that this arrangement is important for the function and/or regulation of these genes. [provided by RefSeq, Jul 2008]"
http://nanbyodata.jp/ontology/NANDO_2200836	NANDO:2200836	MBP	http://identifiers.org/ncbigene/4155	4155	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6925	HGNC:6925	myelin basic protein	"The protein encoded by the classic MBP gene is a major constituent of the myelin sheath of oligodendrocytes and Schwann cells in the nervous system. However, MBP-related transcripts are also present in the bone marrow and the immune system. These mRNAs arise from the long MBP gene (otherwise called ""Golli-MBP"") that contains 3 additional exons located upstream of the classic MBP exons. Alternative splicing from the Golli and the MBP transcription start sites gives rise to 2 sets of MBP-related transcripts and gene products. The Golli mRNAs contain 3 exons unique to Golli-MBP, spliced in-frame to 1 or more MBP exons. They encode hybrid proteins that have N-terminal Golli aa sequence linked to MBP aa sequence. The second family of transcripts contain only MBP exons and produce the well characterized myelin basic proteins. This complex gene structure is conserved among species suggesting that the MBP transcription unit is an integral part of the Golli transcription unit and that this arrangement is important for the function and/or regulation of these genes. [provided by RefSeq, Jul 2008]"
http://nanbyodata.jp/ontology/NANDO_1200609	NANDO:1200609	MBTPS2	http://identifiers.org/ncbigene/51360	51360	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15455	HGNC:15455	membrane bound transcription factor peptidase, site 2	This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_1200873	NANDO:1200873	MBTPS2	http://identifiers.org/ncbigene/51360	51360	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15455	HGNC:15455	membrane bound transcription factor peptidase, site 2	This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_2200995	NANDO:2200995	MBTPS2	http://identifiers.org/ncbigene/51360	51360	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15455	HGNC:15455	membrane bound transcription factor peptidase, site 2	This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_2200999	NANDO:2200999	MBTPS2	http://identifiers.org/ncbigene/51360	51360	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15455	HGNC:15455	membrane bound transcription factor peptidase, site 2	This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_1200777	NANDO:1200777	MC2R	http://identifiers.org/ncbigene/4158	4158	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6930	HGNC:6930	melanocortin 2 receptor	MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency. Alternate transcript variants have been found for this gene. [provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_2200356	NANDO:2200356	MC2R	http://identifiers.org/ncbigene/4158	4158	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6930	HGNC:6930	melanocortin 2 receptor	MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency. Alternate transcript variants have been found for this gene. [provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_2200495	NANDO:2200495	MCCC1	http://identifiers.org/ncbigene/56922	56922	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6936	HGNC:6936	methylcrotonyl-CoA carboxylase subunit 1	This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200495	NANDO:2200495	MCCC2	http://identifiers.org/ncbigene/64087	64087	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6937	HGNC:6937	methylcrotonyl-CoA carboxylase subunit 2	This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	MCIDAS	http://identifiers.org/ncbigene/345643	345643	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:40050	HGNC:40050	multiciliate differentiation and DNA synthesis associated cell cycle protein	This gene encodes a member of the geminin family of proteins. The encoded nuclear protein is required for the generation of multiciliated cells in respiratory epithelium. Mutations in this gene cause a rare mucociliary clearance disorder associated with recurring respiratory infections in human patients, known as reduced generation of multiple motile cilia (RGMC). [provided by RefSeq, Sep 2016]
http://nanbyodata.jp/ontology/NANDO_2200765	NANDO:2200765	MCM4	http://identifiers.org/ncbigene/4173	4173	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6947	HGNC:6947	minichromosome maintenance complex component 4	The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 6 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of this protein by CDC2 kinase reduces the DNA helicase activity and chromatin binding of the MCM complex. This gene is mapped to a region on the chromosome 8 head-to-head next to the PRKDC/DNA-PK, a DNA-activated protein kinase involved in the repair of DNA double-strand breaks. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200769	NANDO:2200769	MCM4	http://identifiers.org/ncbigene/4173	4173	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6947	HGNC:6947	minichromosome maintenance complex component 4	The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 6 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of this protein by CDC2 kinase reduces the DNA helicase activity and chromatin binding of the MCM complex. This gene is mapped to a region on the chromosome 8 head-to-head next to the PRKDC/DNA-PK, a DNA-activated protein kinase involved in the repair of DNA double-strand breaks. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200771	NANDO:2200771	MCM4	http://identifiers.org/ncbigene/4173	4173	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6947	HGNC:6947	minichromosome maintenance complex component 4	The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 6 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of this protein by CDC2 kinase reduces the DNA helicase activity and chromatin binding of the MCM complex. This gene is mapped to a region on the chromosome 8 head-to-head next to the PRKDC/DNA-PK, a DNA-activated protein kinase involved in the repair of DNA double-strand breaks. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200907	NANDO:2200907	MCM6	http://identifiers.org/ncbigene/4175	4175	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6949	HGNC:6949	minichromosome maintenance complex component 6	The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the regulation of DNA replication. Single nucleotide polymorphisms in the intron regions of this gene are associated with differential transcriptional activation of the promoter of the neighboring lactase gene and, thereby, influence lactose intolerance in early adulthood. [provided by RefSeq, May 2012]
http://nanbyodata.jp/ontology/NANDO_2200004	NANDO:2200004	MECOM	http://identifiers.org/ncbigene/2122	2122	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3498	HGNC:3498	MDS1 and EVI1 complex locus	The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2200005	NANDO:2200005	MECOM	http://identifiers.org/ncbigene/2122	2122	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3498	HGNC:3498	MDS1 and EVI1 complex locus	The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2200006	NANDO:2200006	MECOM	http://identifiers.org/ncbigene/2122	2122	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3498	HGNC:3498	MDS1 and EVI1 complex locus	The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2200007	NANDO:2200007	MECOM	http://identifiers.org/ncbigene/2122	2122	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3498	HGNC:3498	MDS1 and EVI1 complex locus	The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2200008	NANDO:2200008	MECOM	http://identifiers.org/ncbigene/2122	2122	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3498	HGNC:3498	MDS1 and EVI1 complex locus	The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2200009	NANDO:2200009	MECOM	http://identifiers.org/ncbigene/2122	2122	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3498	HGNC:3498	MDS1 and EVI1 complex locus	The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2200010	NANDO:2200010	MECOM	http://identifiers.org/ncbigene/2122	2122	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3498	HGNC:3498	MDS1 and EVI1 complex locus	The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2200011	NANDO:2200011	MECOM	http://identifiers.org/ncbigene/2122	2122	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3498	HGNC:3498	MDS1 and EVI1 complex locus	The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2200019	NANDO:2200019	MECOM	http://identifiers.org/ncbigene/2122	2122	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3498	HGNC:3498	MDS1 and EVI1 complex locus	The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_1200603	NANDO:1200603	MECP2	http://identifiers.org/ncbigene/4204	4204	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6990	HGNC:6990	methyl-CpG binding protein 2	DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of cognitive disability in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200604	NANDO:1200604	MECP2	http://identifiers.org/ncbigene/4204	4204	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6990	HGNC:6990	methyl-CpG binding protein 2	DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of cognitive disability in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1201095	NANDO:1201095	MECP2	http://identifiers.org/ncbigene/4204	4204	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6990	HGNC:6990	methyl-CpG binding protein 2	DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of cognitive disability in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_2200825	NANDO:2200825	MECP2	http://identifiers.org/ncbigene/4204	4204	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6990	HGNC:6990	methyl-CpG binding protein 2	DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of cognitive disability in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_2200984	NANDO:2200984	MECP2	http://identifiers.org/ncbigene/4204	4204	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6990	HGNC:6990	methyl-CpG binding protein 2	DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of cognitive disability in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	MECR	http://identifiers.org/ncbigene/51102	51102	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19691	HGNC:19691	mitochondrial trans-2-enoyl-CoA reductase	The protein encoded by this gene is an oxidoreductase that catalyzes the last step in mitochondrial fatty acid synthesis. Defects in this gene are a cause of childhood-onset dystonia and optic atrophy. [provided by RefSeq, Mar 2017]
http://nanbyodata.jp/ontology/NANDO_1200863	NANDO:1200863	MEFV	http://identifiers.org/ncbigene/4210	4210	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6998	HGNC:6998	MEFV innate immuity regulator, pyrin	This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200431	NANDO:2200431	MEFV	http://identifiers.org/ncbigene/4210	4210	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6998	HGNC:6998	MEFV innate immuity regulator, pyrin	This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200343	NANDO:2200343	MEN1	http://identifiers.org/ncbigene/4221	4221	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7010	HGNC:7010	menin 1	This gene encodes menin, a tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. Menin is a scaffold protein that functions in histone modification and epigenetic gene regulation. It is thought to regulate several pathways and processes by altering chromatin structure through the modification of histones. [provided by RefSeq, May 2019]
http://nanbyodata.jp/ontology/NANDO_2200405	NANDO:2200405	MEN1	http://identifiers.org/ncbigene/4221	4221	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7010	HGNC:7010	menin 1	This gene encodes menin, a tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. Menin is a scaffold protein that functions in histone modification and epigenetic gene regulation. It is thought to regulate several pathways and processes by altering chromatin structure through the modification of histones. [provided by RefSeq, May 2019]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	MFN2	http://identifiers.org/ncbigene/9927	9927	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16877	HGNC:16877	mitofusin 2	This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200855	NANDO:2200855	MFN2	http://identifiers.org/ncbigene/9927	9927	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16877	HGNC:16877	mitofusin 2	This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200573	NANDO:2200573	MFSD8	http://identifiers.org/ncbigene/256471	256471	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28486	HGNC:28486	major facilitator superfamily domain containing 8	This gene encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The substrate transported by this protein is unknown. The protein likely localizes to lysosomal membranes. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL). [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200523	NANDO:2200523	MGME1	http://identifiers.org/ncbigene/92667	92667	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16205	HGNC:16205	mitochondrial genome maintenance exonuclease 1	The protein encoded by this gene is a nuclear-encoded mitochondrial protein necessary for the maintenance of mitochondrial genome synthesis. The encoded protein is a RecB-type exonuclease and primarily cleaves single-stranded DNA. Defects in this gene have been associated with mitochondrial DNA depletion syndrome-11. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
http://nanbyodata.jp/ontology/NANDO_2200423	NANDO:2200423	MICA	http://identifiers.org/ncbigene/100507436	100507436	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7090	HGNC:7090	MHC class I polypeptide-related sequence A	This gene encodes the highly polymorphic major histocompatability complex class I chain-related protein A. The protein product is expressed on the cell surface, although unlike canonical class I molecules it does not seem to associate with beta-2-microglobulin. It is a ligand for the NKG2-D type II integral membrane protein receptor. The protein functions as a stress-induced antigen that is broadly recognized by intestinal epithelial gamma delta T cells. Variations in this gene have been associated with susceptibility to psoriasis 1 and psoriatic arthritis, and the shedding of MICA-related antibodies and ligands is involved in the progression from monoclonal gammopathy of undetermined significance to multiple myeloma. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2014]
http://nanbyodata.jp/ontology/NANDO_2200414	NANDO:2200414	MKKS	http://identifiers.org/ncbigene/8195	8195	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7108	HGNC:7108	MKKS centrosomal shuttling protein	This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
http://nanbyodata.jp/ontology/NANDO_1200380	NANDO:1200380	MKRN3	http://identifiers.org/ncbigene/7681	7681	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7114	HGNC:7114	makorin ring finger protein 3	The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200381	NANDO:1200381	MKRN3	http://identifiers.org/ncbigene/7681	7681	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7114	HGNC:7114	makorin ring finger protein 3	The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200377	NANDO:2200377	MKRN3	http://identifiers.org/ncbigene/7681	7681	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7114	HGNC:7114	makorin ring finger protein 3	The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	MKS1	http://identifiers.org/ncbigene/54903	54903	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7121	HGNC:7121	MKS transition zone complex subunit 1	The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2200414	NANDO:2200414	MKS1	http://identifiers.org/ncbigene/54903	54903	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7121	HGNC:7121	MKS transition zone complex subunit 1	The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200949	NANDO:1200949	MLC1	http://identifiers.org/ncbigene/23209	23209	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17082	HGNC:17082	modulator of VRAC current 1	The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200950	NANDO:1200950	MLC1	http://identifiers.org/ncbigene/23209	23209	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17082	HGNC:17082	modulator of VRAC current 1	The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200837	NANDO:2200837	MLC1	http://identifiers.org/ncbigene/23209	23209	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17082	HGNC:17082	modulator of VRAC current 1	The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	MLH1	http://identifiers.org/ncbigene/4292	4292	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7127	HGNC:7127	mutL homolog 1	The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200335	NANDO:1200335	MLH1	http://identifiers.org/ncbigene/4292	4292	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7127	HGNC:7127	mutL homolog 1	The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200709	NANDO:2200709	MLH1	http://identifiers.org/ncbigene/4292	4292	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7127	HGNC:7127	mutL homolog 1	The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200637	NANDO:1200637	MLPH	http://identifiers.org/ncbigene/79083	79083	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29643	HGNC:29643	melanophilin	This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_1200640	NANDO:1200640	MLPH	http://identifiers.org/ncbigene/79083	79083	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29643	HGNC:29643	melanophilin	This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_1200251	NANDO:1200251	MLX	http://identifiers.org/ncbigene/6945	6945	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11645	HGNC:11645	MAX dimerization protein MLX	The product of this gene belongs to the family of basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factors. These factors form heterodimers with Mad proteins and play a role in proliferation, determination and differentiation. This gene product may act to diversify Mad family function by its restricted association with a subset of the Mad family of transcriptional repressors, namely, Mad1 and Mad4. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200793	NANDO:1200793	MMAA	http://identifiers.org/ncbigene/166785	166785	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18871	HGNC:18871	metabolism of cobalamin associated A	The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200795	NANDO:1200795	MMAA	http://identifiers.org/ncbigene/166785	166785	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18871	HGNC:18871	metabolism of cobalamin associated A	The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200491	NANDO:2200491	MMAA	http://identifiers.org/ncbigene/166785	166785	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18871	HGNC:18871	metabolism of cobalamin associated A	The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201105	NANDO:2201105	MMAA	http://identifiers.org/ncbigene/166785	166785	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18871	HGNC:18871	metabolism of cobalamin associated A	The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200491	NANDO:2200491	MMAB	http://identifiers.org/ncbigene/326625	326625	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19331	HGNC:19331	metabolism of cobalamin associated B	This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]
http://nanbyodata.jp/ontology/NANDO_2201106	NANDO:2201106	MMAB	http://identifiers.org/ncbigene/326625	326625	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19331	HGNC:19331	metabolism of cobalamin associated B	This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]
http://nanbyodata.jp/ontology/NANDO_1201038	NANDO:1201038	MMACHC	http://identifiers.org/ncbigene/25974	25974	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24525	HGNC:24525	metabolism of cobalamin associated C	The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1201040	NANDO:1201040	MMACHC	http://identifiers.org/ncbigene/25974	25974	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24525	HGNC:24525	metabolism of cobalamin associated C	The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2201107	NANDO:2201107	MMACHC	http://identifiers.org/ncbigene/25974	25974	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24525	HGNC:24525	metabolism of cobalamin associated C	The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200793	NANDO:1200793	MMADHC	http://identifiers.org/ncbigene/27249	27249	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25221	HGNC:25221	metabolism of cobalamin associated D	This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_1200797	NANDO:1200797	MMADHC	http://identifiers.org/ncbigene/27249	27249	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25221	HGNC:25221	metabolism of cobalamin associated D	This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_2200491	NANDO:2200491	MMADHC	http://identifiers.org/ncbigene/27249	27249	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25221	HGNC:25221	metabolism of cobalamin associated D	This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_2201108	NANDO:2201108	MMADHC	http://identifiers.org/ncbigene/27249	27249	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25221	HGNC:25221	metabolism of cobalamin associated D	This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	MME	http://identifiers.org/ncbigene/4311	4311	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7154	HGNC:7154	membrane metalloendopeptidase	The protein encoded by this gene is a type II transmembrane glycoprotein and a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). The encoded protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200793	NANDO:1200793	MMUT	http://identifiers.org/ncbigene/4594	4594	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7526	HGNC:7526	methylmalonyl-CoA mutase	This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200491	NANDO:2200491	MMUT	http://identifiers.org/ncbigene/4594	4594	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7526	HGNC:7526	methylmalonyl-CoA mutase	This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200588	NANDO:2200588	MOCOS	http://identifiers.org/ncbigene/55034	55034	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18234	HGNC:18234	molybdenum cofactor sulfurase	This gene encodes an enzyme that sulfurates the molybdenum cofactor which is required for activation of the xanthine dehydrogenase (XDH) and aldehyde oxidase (AO) enzymes. XDH catalyzes the conversion of hypoxanthine to uric acid via xanthine, as well as the conversion of allopurinol to oxypurinol, and pyrazinamide to 5-hydroxy pyrazinamide. Mutations in this gene cause the metabolic disorder classical xanthinuria type II which is characterized by the loss of XDH/XO and AO enzyme activity, decreased levels of uric acid in the urine, increased levels of xanthine and hypoxanthine in the serum and urine, formation of xanthine stones in the urinary tract, and myositis due to tissue deposition of xanthine. [provided by RefSeq, Apr 2017]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	MORC2	http://identifiers.org/ncbigene/22880	22880	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23573	HGNC:23573	MORC family CW-type zinc finger 2	This gene encodes a member of the Microrchidia (MORC) protein superfamily. The encoded protein is known to regulate the condensation of heterochromatin in response to DNA damage and play a role in repressing transcription. The protein has been found to regulate the activity of ATP citrate lyase via specific interaction with this enzyme in the cytosol of lipogenic breast cancer cells. The protein also plays a role in lipogenesis and adipocyte differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_2200651	NANDO:2200651	MPL	http://identifiers.org/ncbigene/4352	4352	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7217	HGNC:7217	MPL proto-oncogene, thrombopoietin receptor	In 1990 an oncogene, v-mpl, was identified from the murine myeloproliferative leukemia virus that was capable of immortalizing bone marrow hematopoietic cells from different lineages. In 1992 the human homologue, named, c-mpl, was cloned. Sequence data revealed that c-mpl encoded a protein that was homologous with members of the hematopoietic receptor superfamily. Presence of anti-sense oligodeoxynucleotides of c-mpl inhibited megakaryocyte colony formation. The ligand for c-mpl, thrombopoietin, was cloned in 1994. Thrombopoietin was shown to be the major regulator of megakaryocytopoiesis and platelet formation. The protein encoded by the c-mpl gene, CD110, is a 635 amino acid transmembrane domain, with two extracellular cytokine receptor domains and two intracellular cytokine receptor box motifs . TPO-R deficient mice were severely thrombocytopenic, emphasizing the important role of CD110 and thrombopoietin in megakaryocyte and platelet formation. Upon binding of thrombopoietin CD110 is dimerized and the JAK family of non-receptor tyrosine kinases, as well as the STAT family, the MAPK family, the adaptor protein Shc and the receptors themselves become tyrosine phosphorylated. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	MPO	http://identifiers.org/ncbigene/4353	4353	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7218	HGNC:7218	myeloperoxidase	Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myeloperoxidase is subsequently cleaved into a light and heavy chain. The mature myeloperoxidase is a tetramer composed of 2 light chains and 2 heavy chains. This enzyme produces hypohalous acids central to the microbicidal activity of neutrophils. [provided by RefSeq, Nov 2014]
http://nanbyodata.jp/ontology/NANDO_1200358	NANDO:1200358	MPO	http://identifiers.org/ncbigene/4353	4353	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7218	HGNC:7218	myeloperoxidase	Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myeloperoxidase is subsequently cleaved into a light and heavy chain. The mature myeloperoxidase is a tetramer composed of 2 light chains and 2 heavy chains. This enzyme produces hypohalous acids central to the microbicidal activity of neutrophils. [provided by RefSeq, Nov 2014]
http://nanbyodata.jp/ontology/NANDO_2200426	NANDO:2200426	MPO	http://identifiers.org/ncbigene/4353	4353	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7218	HGNC:7218	myeloperoxidase	Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myeloperoxidase is subsequently cleaved into a light and heavy chain. The mature myeloperoxidase is a tetramer composed of 2 light chains and 2 heavy chains. This enzyme produces hypohalous acids central to the microbicidal activity of neutrophils. [provided by RefSeq, Nov 2014]
http://nanbyodata.jp/ontology/NANDO_2200758	NANDO:2200758	MPO	http://identifiers.org/ncbigene/4353	4353	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7218	HGNC:7218	myeloperoxidase	Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myeloperoxidase is subsequently cleaved into a light and heavy chain. The mature myeloperoxidase is a tetramer composed of 2 light chains and 2 heavy chains. This enzyme produces hypohalous acids central to the microbicidal activity of neutrophils. [provided by RefSeq, Nov 2014]
http://nanbyodata.jp/ontology/NANDO_2200523	NANDO:2200523	MPV17	http://identifiers.org/ncbigene/4358	4358	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7224	HGNC:7224	mitochondrial inner membrane protein MPV17	This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	MPZ	http://identifiers.org/ncbigene/4359	4359	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7225	HGNC:7225	myelin protein zero	This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and other polyneuropathies, such as Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN). A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_2200855	NANDO:2200855	MPZ	http://identifiers.org/ncbigene/4359	4359	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7225	HGNC:7225	myelin protein zero	This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and other polyneuropathies, such as Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN). A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200777	NANDO:1200777	MRAP	http://identifiers.org/ncbigene/56246	56246	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1304	HGNC:1304	melanocortin 2 receptor accessory protein	This gene encodes a melanocortin receptor-interacting protein. The encoded protein regulates trafficking and function of the melanocortin 2 receptor in the adrenal gland. The encoded protein can also modulate signaling of other melanocortin receptors. Mutations in this gene have been associated with familial glucocorticoid deficiency type 2. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]
http://nanbyodata.jp/ontology/NANDO_2200356	NANDO:2200356	MRAP	http://identifiers.org/ncbigene/56246	56246	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1304	HGNC:1304	melanocortin 2 receptor accessory protein	This gene encodes a melanocortin receptor-interacting protein. The encoded protein regulates trafficking and function of the melanocortin 2 receptor in the adrenal gland. The encoded protein can also modulate signaling of other melanocortin receptors. Mutations in this gene have been associated with familial glucocorticoid deficiency type 2. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]
http://nanbyodata.jp/ontology/NANDO_1200680	NANDO:1200680	MRAS	http://identifiers.org/ncbigene/22808	22808	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7227	HGNC:7227	muscle RAS oncogene homolog	This gene encodes a member of the Ras family of small GTPases. These membrane-associated proteins function as signal transducers in multiple processes including cell growth and differentiation, and dysregulation of Ras signaling has been associated with many types of cancer. The encoded protein may play a role in the tumor necrosis factor-alpha and MAP kinase signaling pathways. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
http://nanbyodata.jp/ontology/NANDO_1200331	NANDO:1200331	MRE11	http://identifiers.org/ncbigene/4361	4361	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7230	HGNC:7230	MRE11 homolog, double strand break repair nuclease	This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3' to 5' exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200705	NANDO:2200705	MRE11	http://identifiers.org/ncbigene/4361	4361	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7230	HGNC:7230	MRE11 homolog, double strand break repair nuclease	This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3' to 5' exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200004	NANDO:2200004	MRTFA	http://identifiers.org/ncbigene/57591	57591	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14334	HGNC:14334	myocardin related transcription factor A	The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
http://nanbyodata.jp/ontology/NANDO_2200005	NANDO:2200005	MRTFA	http://identifiers.org/ncbigene/57591	57591	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14334	HGNC:14334	myocardin related transcription factor A	The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
http://nanbyodata.jp/ontology/NANDO_2200006	NANDO:2200006	MRTFA	http://identifiers.org/ncbigene/57591	57591	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14334	HGNC:14334	myocardin related transcription factor A	The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
http://nanbyodata.jp/ontology/NANDO_2200007	NANDO:2200007	MRTFA	http://identifiers.org/ncbigene/57591	57591	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14334	HGNC:14334	myocardin related transcription factor A	The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
http://nanbyodata.jp/ontology/NANDO_2200008	NANDO:2200008	MRTFA	http://identifiers.org/ncbigene/57591	57591	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14334	HGNC:14334	myocardin related transcription factor A	The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
http://nanbyodata.jp/ontology/NANDO_2200009	NANDO:2200009	MRTFA	http://identifiers.org/ncbigene/57591	57591	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14334	HGNC:14334	myocardin related transcription factor A	The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
http://nanbyodata.jp/ontology/NANDO_2200010	NANDO:2200010	MRTFA	http://identifiers.org/ncbigene/57591	57591	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14334	HGNC:14334	myocardin related transcription factor A	The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
http://nanbyodata.jp/ontology/NANDO_2200011	NANDO:2200011	MRTFA	http://identifiers.org/ncbigene/57591	57591	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14334	HGNC:14334	myocardin related transcription factor A	The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
http://nanbyodata.jp/ontology/NANDO_2200019	NANDO:2200019	MRTFA	http://identifiers.org/ncbigene/57591	57591	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14334	HGNC:14334	myocardin related transcription factor A	The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	MS4A1	http://identifiers.org/ncbigene/931	931	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7315	HGNC:7315	membrane spanning 4-domains A1	This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This gene encodes a B-lymphocyte surface molecule which plays a role in the development and differentiation of B-cells into plasma cells. This family member is localized to 11q12, among a cluster of family members. Alternative splicing of this gene results in two transcript variants which encode the same protein. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200344	NANDO:1200344	MS4A1	http://identifiers.org/ncbigene/931	931	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7315	HGNC:7315	membrane spanning 4-domains A1	This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This gene encodes a B-lymphocyte surface molecule which plays a role in the development and differentiation of B-cells into plasma cells. This family member is localized to 11q12, among a cluster of family members. Alternative splicing of this gene results in two transcript variants which encode the same protein. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200717	NANDO:2200717	MS4A1	http://identifiers.org/ncbigene/931	931	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7315	HGNC:7315	membrane spanning 4-domains A1	This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This gene encodes a B-lymphocyte surface molecule which plays a role in the development and differentiation of B-cells into plasma cells. This family member is localized to 11q12, among a cluster of family members. Alternative splicing of this gene results in two transcript variants which encode the same protein. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	MSH2	http://identifiers.org/ncbigene/4436	4436	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7325	HGNC:7325	mutS homolog 2	This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_1200335	NANDO:1200335	MSH2	http://identifiers.org/ncbigene/4436	4436	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7325	HGNC:7325	mutS homolog 2	This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_2200709	NANDO:2200709	MSH2	http://identifiers.org/ncbigene/4436	4436	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7325	HGNC:7325	mutS homolog 2	This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	MSH6	http://identifiers.org/ncbigene/2956	2956	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7329	HGNC:7329	mutS homolog 6	This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_1200335	NANDO:1200335	MSH6	http://identifiers.org/ncbigene/2956	2956	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7329	HGNC:7329	mutS homolog 6	This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_2200709	NANDO:2200709	MSH6	http://identifiers.org/ncbigene/2956	2956	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7329	HGNC:7329	mutS homolog 6	This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_1201038	NANDO:1201038	MTHFR	http://identifiers.org/ncbigene/4524	4524	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7436	HGNC:7436	methylenetetrahydrofolate reductase	The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1201041	NANDO:1201041	MTHFR	http://identifiers.org/ncbigene/4524	4524	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7436	HGNC:7436	methylenetetrahydrofolate reductase	The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200477	NANDO:1200477	MTM1	http://identifiers.org/ncbigene/4534	4534	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7448	HGNC:7448	myotubularin 1	This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200481	NANDO:1200481	MTM1	http://identifiers.org/ncbigene/4534	4534	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7448	HGNC:7448	myotubularin 1	This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200482	NANDO:1200482	MTM1	http://identifiers.org/ncbigene/4534	4534	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7448	HGNC:7448	myotubularin 1	This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200867	NANDO:2200867	MTM1	http://identifiers.org/ncbigene/4534	4534	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7448	HGNC:7448	myotubularin 1	This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	MTMR2	http://identifiers.org/ncbigene/8898	8898	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7450	HGNC:7450	myotubularin related protein 2	This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_1200563	NANDO:1200563	MTOR	http://identifiers.org/ncbigene/2475	2475	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3942	HGNC:3942	mechanistic target of rapamycin kinase	The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This kinase is a component of two distinct complexes, mTORC1, which controls protein synthesis, cell growth and proliferation, and mTORC2, which is a regulator of the actin cytoskeleton, and promotes cell survival and cell cycle progression. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. Inhibitors of mTOR are used in organ transplants as immunosuppressants, and are being evaluated for their therapeutic potential in SARS-CoV-2 infections. Mutations in this gene are associated with Smith-Kingsmore syndrome and somatic focal cortical dysplasia type II. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_2201394	NANDO:2201394	MTOR	http://identifiers.org/ncbigene/2475	2475	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3942	HGNC:3942	mechanistic target of rapamycin kinase	The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This kinase is a component of two distinct complexes, mTORC1, which controls protein synthesis, cell growth and proliferation, and mTORC2, which is a regulator of the actin cytoskeleton, and promotes cell survival and cell cycle progression. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. Inhibitors of mTOR are used in organ transplants as immunosuppressants, and are being evaluated for their therapeutic potential in SARS-CoV-2 infections. Mutations in this gene are associated with Smith-Kingsmore syndrome and somatic focal cortical dysplasia type II. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_2201498	NANDO:2201498	MTOR	http://identifiers.org/ncbigene/2475	2475	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3942	HGNC:3942	mechanistic target of rapamycin kinase	The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This kinase is a component of two distinct complexes, mTORC1, which controls protein synthesis, cell growth and proliferation, and mTORC2, which is a regulator of the actin cytoskeleton, and promotes cell survival and cell cycle progression. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. Inhibitors of mTOR are used in organ transplants as immunosuppressants, and are being evaluated for their therapeutic potential in SARS-CoV-2 infections. Mutations in this gene are associated with Smith-Kingsmore syndrome and somatic focal cortical dysplasia type II. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_1200857	NANDO:1200857	MTTP	http://identifiers.org/ncbigene/4547	4547	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7467	HGNC:7467	microsomal triglyceride transfer protein	MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200604	NANDO:2200604	MTTP	http://identifiers.org/ncbigene/4547	4547	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7467	HGNC:7467	microsomal triglyceride transfer protein	MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201386	NANDO:2201386	MUC1	http://identifiers.org/ncbigene/4582	4582	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7508	HGNC:7508	mucin 1, cell surface associated	This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_2201388	NANDO:2201388	MUC1	http://identifiers.org/ncbigene/4582	4582	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7508	HGNC:7508	mucin 1, cell surface associated	This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_1200021	NANDO:1200021	MUSK	http://identifiers.org/ncbigene/4593	4593	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7525	HGNC:7525	muscle associated receptor tyrosine kinase	This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200866	NANDO:1200866	MVK	http://identifiers.org/ncbigene/4598	4598	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7530	HGNC:7530	mevalonate kinase	This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_2200436	NANDO:2200436	MVK	http://identifiers.org/ncbigene/4598	4598	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7530	HGNC:7530	mevalonate kinase	This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_1200286	NANDO:1200286	MYBPC3	http://identifiers.org/ncbigene/4607	4607	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7551	HGNC:7551	myosin binding protein C3	MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200229	NANDO:2200229	MYBPC3	http://identifiers.org/ncbigene/4607	4607	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7551	HGNC:7551	myosin binding protein C3	MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200232	NANDO:2200232	MYBPC3	http://identifiers.org/ncbigene/4607	4607	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7551	HGNC:7551	myosin binding protein C3	MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201041	NANDO:2201041	MYBPC3	http://identifiers.org/ncbigene/4607	4607	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7551	HGNC:7551	myosin binding protein C3	MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200002	NANDO:2200002	MYC	http://identifiers.org/ncbigene/4609	4609	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7553	HGNC:7553	MYC proto-oncogene, bHLH transcription factor	This gene is a proto-oncogene and encodes a nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. The encoded protein forms a heterodimer with the related transcription factor MAX. This complex binds to the E box DNA consensus sequence and regulates the transcription of specific target genes. Amplification of this gene is frequently observed in numerous human cancers. Translocations involving this gene are associated with Burkitt lymphoma and multiple myeloma in human patients. There is evidence to show that translation initiates both from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site, resulting in the production of two isoforms with distinct N-termini. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200362	NANDO:1200362	MYD88	http://identifiers.org/ncbigene/4615	4615	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7562	HGNC:7562	MYD88 innate immune signal transduction adaptor	This gene encodes a cytosolic adapter protein that plays a central role in the innate and adaptive immune response. This protein functions as an essential signal transducer in the interleukin-1 and Toll-like receptor signaling pathways. These pathways regulate that activation of numerous proinflammatory genes. The encoded protein consists of an N-terminal death domain and a C-terminal Toll-interleukin1 receptor domain. Patients with defects in this gene have an increased susceptibility to pyogenic bacterial infections. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2200763	NANDO:2200763	MYD88	http://identifiers.org/ncbigene/4615	4615	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7562	HGNC:7562	MYD88 innate immune signal transduction adaptor	This gene encodes a cytosolic adapter protein that plays a central role in the innate and adaptive immune response. This protein functions as an essential signal transducer in the interleukin-1 and Toll-like receptor signaling pathways. These pathways regulate that activation of numerous proinflammatory genes. The encoded protein consists of an N-terminal death domain and a C-terminal Toll-interleukin1 receptor domain. Patients with defects in this gene have an increased susceptibility to pyogenic bacterial infections. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1200477	NANDO:1200477	MYF6	http://identifiers.org/ncbigene/4618	4618	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7566	HGNC:7566	myogenic factor 6	The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle differentiation. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of autosomal dominant centronuclear myopathy (ADCNM). [provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_1200481	NANDO:1200481	MYF6	http://identifiers.org/ncbigene/4618	4618	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7566	HGNC:7566	myogenic factor 6	The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle differentiation. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of autosomal dominant centronuclear myopathy (ADCNM). [provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_1200482	NANDO:1200482	MYF6	http://identifiers.org/ncbigene/4618	4618	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7566	HGNC:7566	myogenic factor 6	The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle differentiation. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of autosomal dominant centronuclear myopathy (ADCNM). [provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2200004	NANDO:2200004	MYH11	http://identifiers.org/ncbigene/4629	4629	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7569	HGNC:7569	myosin heavy chain 11	The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200005	NANDO:2200005	MYH11	http://identifiers.org/ncbigene/4629	4629	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7569	HGNC:7569	myosin heavy chain 11	The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200006	NANDO:2200006	MYH11	http://identifiers.org/ncbigene/4629	4629	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7569	HGNC:7569	myosin heavy chain 11	The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200007	NANDO:2200007	MYH11	http://identifiers.org/ncbigene/4629	4629	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7569	HGNC:7569	myosin heavy chain 11	The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200008	NANDO:2200008	MYH11	http://identifiers.org/ncbigene/4629	4629	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7569	HGNC:7569	myosin heavy chain 11	The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200009	NANDO:2200009	MYH11	http://identifiers.org/ncbigene/4629	4629	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7569	HGNC:7569	myosin heavy chain 11	The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200010	NANDO:2200010	MYH11	http://identifiers.org/ncbigene/4629	4629	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7569	HGNC:7569	myosin heavy chain 11	The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200011	NANDO:2200011	MYH11	http://identifiers.org/ncbigene/4629	4629	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7569	HGNC:7569	myosin heavy chain 11	The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200019	NANDO:2200019	MYH11	http://identifiers.org/ncbigene/4629	4629	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7569	HGNC:7569	myosin heavy chain 11	The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200229	NANDO:2200229	MYH6	http://identifiers.org/ncbigene/4624	4624	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7576	HGNC:7576	myosin heavy chain 6	Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]
http://nanbyodata.jp/ontology/NANDO_2200232	NANDO:2200232	MYH6	http://identifiers.org/ncbigene/4624	4624	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7576	HGNC:7576	myosin heavy chain 6	Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]
http://nanbyodata.jp/ontology/NANDO_2201041	NANDO:2201041	MYH6	http://identifiers.org/ncbigene/4624	4624	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7576	HGNC:7576	myosin heavy chain 6	Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]
http://nanbyodata.jp/ontology/NANDO_1200216	NANDO:1200216	MYH7	http://identifiers.org/ncbigene/4625	4625	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7577	HGNC:7577	myosin heavy chain 7	Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200285	NANDO:1200285	MYH7	http://identifiers.org/ncbigene/4625	4625	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7577	HGNC:7577	myosin heavy chain 7	Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200286	NANDO:1200286	MYH7	http://identifiers.org/ncbigene/4625	4625	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7577	HGNC:7577	myosin heavy chain 7	Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200229	NANDO:2200229	MYH7	http://identifiers.org/ncbigene/4625	4625	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7577	HGNC:7577	myosin heavy chain 7	Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200232	NANDO:2200232	MYH7	http://identifiers.org/ncbigene/4625	4625	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7577	HGNC:7577	myosin heavy chain 7	Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201041	NANDO:2201041	MYH7	http://identifiers.org/ncbigene/4625	4625	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7577	HGNC:7577	myosin heavy chain 7	Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200893	NANDO:1200893	MYH9	http://identifiers.org/ncbigene/4627	4627	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7579	HGNC:7579	myosin heavy chain 9	This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_1200894	NANDO:1200894	MYH9	http://identifiers.org/ncbigene/4627	4627	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7579	HGNC:7579	myosin heavy chain 9	This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_1200895	NANDO:1200895	MYH9	http://identifiers.org/ncbigene/4627	4627	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7579	HGNC:7579	myosin heavy chain 9	This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_2200127	NANDO:2200127	MYH9	http://identifiers.org/ncbigene/4627	4627	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7579	HGNC:7579	myosin heavy chain 9	This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_2200654	NANDO:2200654	MYH9	http://identifiers.org/ncbigene/4627	4627	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7579	HGNC:7579	myosin heavy chain 9	This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_2200229	NANDO:2200229	MYL2	http://identifiers.org/ncbigene/4633	4633	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7583	HGNC:7583	myosin light chain 2	Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200232	NANDO:2200232	MYL2	http://identifiers.org/ncbigene/4633	4633	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7583	HGNC:7583	myosin light chain 2	Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201041	NANDO:2201041	MYL2	http://identifiers.org/ncbigene/4633	4633	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7583	HGNC:7583	myosin light chain 2	Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200229	NANDO:2200229	MYL3	http://identifiers.org/ncbigene/4634	4634	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7584	HGNC:7584	myosin light chain 3	MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200232	NANDO:2200232	MYL3	http://identifiers.org/ncbigene/4634	4634	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7584	HGNC:7584	myosin light chain 3	MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201041	NANDO:2201041	MYL3	http://identifiers.org/ncbigene/4634	4634	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7584	HGNC:7584	myosin light chain 3	MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200945	NANDO:1200945	MYO15A	http://identifiers.org/ncbigene/51168	51168	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7594	HGNC:7594	myosin XVA	This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200637	NANDO:1200637	MYO5A	http://identifiers.org/ncbigene/4644	4644	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7602	HGNC:7602	myosin VA	This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_1200640	NANDO:1200640	MYO5A	http://identifiers.org/ncbigene/4644	4644	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7602	HGNC:7602	myosin VA	This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_2200986	NANDO:2200986	MYO5A	http://identifiers.org/ncbigene/4644	4644	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7602	HGNC:7602	myosin VA	This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_1201042	NANDO:1201042	MYO5B	http://identifiers.org/ncbigene/4645	4645	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7603	HGNC:7603	myosin VB	The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2200913	NANDO:2200913	MYO5B	http://identifiers.org/ncbigene/4645	4645	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7603	HGNC:7603	myosin VB	The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200945	NANDO:1200945	MYO6	http://identifiers.org/ncbigene/4646	4646	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7605	HGNC:7605	myosin VI	This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_1200941	NANDO:1200941	MYO7A	http://identifiers.org/ncbigene/4647	4647	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7606	HGNC:7606	myosin VIIA	This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200942	NANDO:1200942	MYO7A	http://identifiers.org/ncbigene/4647	4647	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7606	HGNC:7606	myosin VIIA	This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200032	NANDO:1200032	MYOT	http://identifiers.org/ncbigene/9499	9499	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12399	HGNC:12399	myotilin	This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200216	NANDO:1200216	MYOT	http://identifiers.org/ncbigene/9499	9499	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12399	HGNC:12399	myotilin	This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	MYOT	http://identifiers.org/ncbigene/9499	9499	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12399	HGNC:12399	myotilin	This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	NAGA	http://identifiers.org/ncbigene/4668	4668	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7631	HGNC:7631	alpha-N-acetylgalactosaminidase	NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of  Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200134	NANDO:1200134	NAGA	http://identifiers.org/ncbigene/4668	4668	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7631	HGNC:7631	alpha-N-acetylgalactosaminidase	NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of  Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	NAGLU	http://identifiers.org/ncbigene/4669	4669	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7632	HGNC:7632	N-acetyl-alpha-glucosaminidase	This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200100	NANDO:1200100	NAGLU	http://identifiers.org/ncbigene/4669	4669	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7632	HGNC:7632	N-acetyl-alpha-glucosaminidase	This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200102	NANDO:1200102	NAGLU	http://identifiers.org/ncbigene/4669	4669	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7632	HGNC:7632	N-acetyl-alpha-glucosaminidase	This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200549	NANDO:2200549	NAGLU	http://identifiers.org/ncbigene/4669	4669	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7632	HGNC:7632	N-acetyl-alpha-glucosaminidase	This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200802	NANDO:1200802	NAGS	http://identifiers.org/ncbigene/162417	162417	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17996	HGNC:17996	N-acetylglutamate synthase	The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200808	NANDO:1200808	NAGS	http://identifiers.org/ncbigene/162417	162417	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17996	HGNC:17996	N-acetylglutamate synthase	The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200477	NANDO:2200477	NAGS	http://identifiers.org/ncbigene/162417	162417	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17996	HGNC:17996	N-acetylglutamate synthase	The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200853	NANDO:2200853	NAIP	http://identifiers.org/ncbigene/4671	4671	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7634	HGNC:7634	NLR family apoptosis inhibitory protein	This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This copy of the gene is full length; additional copies with truncations and internal deletions are also present in this region of chromosome 5q13. It is thought that this gene is a modifier of spinal muscular atrophy caused by mutations in a neighboring gene, SMN1. The protein encoded by this gene contains regions of homology to two baculovirus inhibitor of apoptosis proteins, and it is able to suppress apoptosis induced by various signals. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	NBN	http://identifiers.org/ncbigene/4683	4683	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7652	HGNC:7652	nibrin	Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200332	NANDO:1200332	NBN	http://identifiers.org/ncbigene/4683	4683	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7652	HGNC:7652	nibrin	Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200706	NANDO:2200706	NBN	http://identifiers.org/ncbigene/4683	4683	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7652	HGNC:7652	nibrin	Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	NCF1	http://identifiers.org/ncbigene/653361	653361	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7660	HGNC:7660	neutrophil cytosolic factor 1	The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200357	NANDO:1200357	NCF1	http://identifiers.org/ncbigene/653361	653361	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7660	HGNC:7660	neutrophil cytosolic factor 1	The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200757	NANDO:2200757	NCF1	http://identifiers.org/ncbigene/653361	653361	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7660	HGNC:7660	neutrophil cytosolic factor 1	The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201281	NANDO:2201281	NCF1	http://identifiers.org/ncbigene/653361	653361	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7660	HGNC:7660	neutrophil cytosolic factor 1	The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	NCF2	http://identifiers.org/ncbigene/4688	4688	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7661	HGNC:7661	neutrophil cytosolic factor 2	This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_1200357	NANDO:1200357	NCF2	http://identifiers.org/ncbigene/4688	4688	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7661	HGNC:7661	neutrophil cytosolic factor 2	This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_2200757	NANDO:2200757	NCF2	http://identifiers.org/ncbigene/4688	4688	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7661	HGNC:7661	neutrophil cytosolic factor 2	This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_2201282	NANDO:2201282	NCF2	http://identifiers.org/ncbigene/4688	4688	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7661	HGNC:7661	neutrophil cytosolic factor 2	This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	NCF4	http://identifiers.org/ncbigene/4689	4689	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7662	HGNC:7662	neutrophil cytosolic factor 4	The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200357	NANDO:1200357	NCF4	http://identifiers.org/ncbigene/4689	4689	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7662	HGNC:7662	neutrophil cytosolic factor 4	The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200757	NANDO:2200757	NCF4	http://identifiers.org/ncbigene/4689	4689	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7662	HGNC:7662	neutrophil cytosolic factor 4	The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201283	NANDO:2201283	NCF4	http://identifiers.org/ncbigene/4689	4689	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7662	HGNC:7662	neutrophil cytosolic factor 4	The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	NDRG1	http://identifiers.org/ncbigene/10397	10397	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7679	HGNC:7679	N-myc downstream regulated 1	This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation. The encoded protein is necessary for p53-mediated caspase activation and apoptosis. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4D, and expression of this gene may be a prognostic indicator for several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
http://nanbyodata.jp/ontology/NANDO_2200855	NANDO:2200855	NDRG1	http://identifiers.org/ncbigene/10397	10397	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7679	HGNC:7679	N-myc downstream regulated 1	This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation. The encoded protein is necessary for p53-mediated caspase activation and apoptosis. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4D, and expression of this gene may be a prognostic indicator for several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
http://nanbyodata.jp/ontology/NANDO_1200216	NANDO:1200216	NEB	http://identifiers.org/ncbigene/4703	4703	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7720	HGNC:7720	nebulin	This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200477	NANDO:1200477	NEB	http://identifiers.org/ncbigene/4703	4703	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7720	HGNC:7720	nebulin	This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200478	NANDO:1200478	NEB	http://identifiers.org/ncbigene/4703	4703	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7720	HGNC:7720	nebulin	This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2200869	NANDO:2200869	NEB	http://identifiers.org/ncbigene/4703	4703	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7720	HGNC:7720	nebulin	This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	NEFH	http://identifiers.org/ncbigene/4744	4744	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7737	HGNC:7737	neurofilament heavy chain	Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	NEFL	http://identifiers.org/ncbigene/4747	4747	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7739	HGNC:7739	neurofilament light chain	Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200855	NANDO:2200855	NEFL	http://identifiers.org/ncbigene/4747	4747	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7739	HGNC:7739	neurofilament light chain	Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	NEK8	http://identifiers.org/ncbigene/284086	284086	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13387	HGNC:13387	NIMA related kinase 8	This gene encodes a member of the serine/threionine protein kinase family related to NIMA (never in mitosis, gene A) of Aspergillus nidulans. The encoded protein may play a role in cell cycle progression from G2 to M phase. Mutations in the related mouse gene are associated with a disease phenotype that closely parallels the juvenile autosomal recessive form of polycystic kidney disease in humans. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200140	NANDO:2200140	NEK8	http://identifiers.org/ncbigene/284086	284086	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13387	HGNC:13387	NIMA related kinase 8	This gene encodes a member of the serine/threionine protein kinase family related to NIMA (never in mitosis, gene A) of Aspergillus nidulans. The encoded protein may play a role in cell cycle progression from G2 to M phase. Mutations in the related mouse gene are associated with a disease phenotype that closely parallels the juvenile autosomal recessive form of polycystic kidney disease in humans. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	NEU1	http://identifiers.org/ncbigene/4758	4758	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7758	HGNC:7758	neuraminidase 1	The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200116	NANDO:1200116	NEU1	http://identifiers.org/ncbigene/4758	4758	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7758	HGNC:7758	neuraminidase 1	The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200556	NANDO:2200556	NEU1	http://identifiers.org/ncbigene/4758	4758	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7758	HGNC:7758	neuraminidase 1	The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200556	NANDO:2200556	NEU2	http://identifiers.org/ncbigene/4759	4759	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7759	HGNC:7759	neuraminidase 2	This gene belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. Expression studies in COS7 cells confirmed that this gene encodes a functional sialidase. Its cytosolic localization was demonstrated by cell fractionation experiments. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200556	NANDO:2200556	NEU3	http://identifiers.org/ncbigene/10825	10825	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7760	HGNC:7760	neuraminidase 3	This gene product belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. It is localized in the plasma membrane, and its activity is specific for gangliosides. It may play a role in modulating the ganglioside content of the lipid bilayer. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200556	NANDO:2200556	NEU4	http://identifiers.org/ncbigene/129807	129807	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21328	HGNC:21328	neuraminidase 4	The protein encoded by this gene belongs to a family of glycohydrolytic enzymes, which remove terminal sialic acid residues from various sialo derivatives, such as glycoproteins, glycolipids, oligosaccharides, and gangliosides. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_2200463	NANDO:2200463	NEUROD1	http://identifiers.org/ncbigene/4760	4760	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7762	HGNC:7762	neuronal differentiation 1	This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201435	NANDO:2201435	NEUROD1	http://identifiers.org/ncbigene/4760	4760	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7762	HGNC:7762	neuronal differentiation 1	This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200463	NANDO:2200463	NEUROG3	http://identifiers.org/ncbigene/50674	50674	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13806	HGNC:13806	neurogenin 3	The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor involved in neurogenesis. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of congenital malabsorptive diarrhea 4 (DIAR4).[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2201435	NANDO:2201435	NEUROG3	http://identifiers.org/ncbigene/50674	50674	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13806	HGNC:13806	neurogenin 3	The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor involved in neurogenesis. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of congenital malabsorptive diarrhea 4 (DIAR4).[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_1200225	NANDO:1200225	NF1	http://identifiers.org/ncbigene/4763	4763	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7765	HGNC:7765	neurofibromin 1	This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200226	NANDO:1200226	NF1	http://identifiers.org/ncbigene/4763	4763	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7765	HGNC:7765	neurofibromin 1	This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200015	NANDO:2200015	NF1	http://identifiers.org/ncbigene/4763	4763	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7765	HGNC:7765	neurofibromin 1	This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200407	NANDO:2200407	NF1	http://identifiers.org/ncbigene/4763	4763	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7765	HGNC:7765	neurofibromin 1	This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201003	NANDO:2201003	NF1	http://identifiers.org/ncbigene/4763	4763	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7765	HGNC:7765	neurofibromin 1	This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200225	NANDO:1200225	NF2	http://identifiers.org/ncbigene/4771	4771	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7773	HGNC:7773	neurofibromin 2	This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200227	NANDO:1200227	NF2	http://identifiers.org/ncbigene/4771	4771	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7773	HGNC:7773	neurofibromin 2	This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200717	NANDO:2200717	NFKB2	http://identifiers.org/ncbigene/4791	4791	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7795	HGNC:7795	nuclear factor kappa B subunit 2	This gene encodes a subunit of the transcription factor complex nuclear factor-kappa-B (NFkB). The NFkB complex is expressed in numerous cell types and functions as a central activator of genes involved in inflammation and immune function. The protein encoded by this gene can function as both a transcriptional activator or repressor depending on its dimerization partner. The p100 full-length protein is co-translationally processed into a p52 active form. Chromosomal rearrangements and translocations of this locus have been observed in B cell lymphomas, some of which may result in the formation of fusion proteins. There is a pseudogene for this gene on chromosome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	NFKBIA	http://identifiers.org/ncbigene/4792	4792	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7797	HGNC:7797	NFKB inhibitor alpha	This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_1200360	NANDO:1200360	NFKBIA	http://identifiers.org/ncbigene/4792	4792	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7797	HGNC:7797	NFKB inhibitor alpha	This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_2200761	NANDO:2200761	NFKBIA	http://identifiers.org/ncbigene/4792	4792	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7797	HGNC:7797	NFKB inhibitor alpha	This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_1200553	NANDO:1200553	NGF	http://identifiers.org/ncbigene/4803	4803	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7808	HGNC:7808	nerve growth factor	This gene is a member of the NGF-beta family and encodes a secreted protein which homodimerizes and is incorporated into a larger complex. This protein has nerve growth stimulating activity and the complex is involved in the regulation of growth and the differentiation of sympathetic and certain sensory neurons. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy, type 5 (HSAN5), and dysregulation of this gene's expression is associated with allergic rhinitis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200854	NANDO:2200854	NGF	http://identifiers.org/ncbigene/4803	4803	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7808	HGNC:7808	nerve growth factor	This gene is a member of the NGF-beta family and encodes a secreted protein which homodimerizes and is incorporated into a larger complex. This protein has nerve growth stimulating activity and the complex is involved in the regulation of growth and the differentiation of sympathetic and certain sensory neurons. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy, type 5 (HSAN5), and dysregulation of this gene's expression is associated with allergic rhinitis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200953	NANDO:1200953	NHLRC1	http://identifiers.org/ncbigene/378884	378884	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21576	HGNC:21576	NHL repeat containing E3 ubiquitin protein ligase 1	The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200955	NANDO:1200955	NHLRC1	http://identifiers.org/ncbigene/378884	378884	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21576	HGNC:21576	NHL repeat containing E3 ubiquitin protein ligase 1	The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200881	NANDO:2200881	NHLRC1	http://identifiers.org/ncbigene/378884	378884	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21576	HGNC:21576	NHL repeat containing E3 ubiquitin protein ligase 1	The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	NHP2	http://identifiers.org/ncbigene/55651	55651	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14377	HGNC:14377	NHP2 ribonucleoprotein	This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nhp2p. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200342	NANDO:1200342	NHP2	http://identifiers.org/ncbigene/55651	55651	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14377	HGNC:14377	NHP2 ribonucleoprotein	This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nhp2p. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200715	NANDO:2200715	NHP2	http://identifiers.org/ncbigene/55651	55651	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14377	HGNC:14377	NHP2 ribonucleoprotein	This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nhp2p. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200609	NANDO:1200609	NIPAL4	http://identifiers.org/ncbigene/348938	348938	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28018	HGNC:28018	NIPA like domain containing 4	This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2200991	NANDO:2200991	NIPAL4	http://identifiers.org/ncbigene/348938	348938	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28018	HGNC:28018	NIPA like domain containing 4	This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1200957	NANDO:1200957	NIPBL	http://identifiers.org/ncbigene/25836	25836	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28862	HGNC:28862	NIPBL cohesin loading factor	This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200960	NANDO:1200960	NIPBL	http://identifiers.org/ncbigene/25836	25836	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28862	HGNC:28862	NIPBL cohesin loading factor	This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200958	NANDO:2200958	NIPBL	http://identifiers.org/ncbigene/25836	25836	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28862	HGNC:28862	NIPBL cohesin loading factor	This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200200	NANDO:2200200	NKX2-1	http://identifiers.org/ncbigene/7080	7080	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11825	HGNC:11825	NK2 homeobox 1	This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Feb 2014]
http://nanbyodata.jp/ontology/NANDO_1200993	NANDO:1200993	NLRC4	http://identifiers.org/ncbigene/58484	58484	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16412	HGNC:16412	NLR family CARD domain containing 4	This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
http://nanbyodata.jp/ontology/NANDO_1200994	NANDO:1200994	NLRC4	http://identifiers.org/ncbigene/58484	58484	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16412	HGNC:16412	NLR family CARD domain containing 4	This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
http://nanbyodata.jp/ontology/NANDO_2200440	NANDO:2200440	NLRC4	http://identifiers.org/ncbigene/58484	58484	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16412	HGNC:16412	NLR family CARD domain containing 4	This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
http://nanbyodata.jp/ontology/NANDO_2200459	NANDO:2200459	NLRC4	http://identifiers.org/ncbigene/58484	58484	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16412	HGNC:16412	NLR family CARD domain containing 4	This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
http://nanbyodata.jp/ontology/NANDO_2200440	NANDO:2200440	NLRP12	http://identifiers.org/ncbigene/91662	91662	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22938	HGNC:22938	NLR family pyrin domain containing 12	This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
http://nanbyodata.jp/ontology/NANDO_2200449	NANDO:2200449	NLRP12	http://identifiers.org/ncbigene/91662	91662	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22938	HGNC:22938	NLR family pyrin domain containing 12	This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
http://nanbyodata.jp/ontology/NANDO_2200454	NANDO:2200454	NLRP12	http://identifiers.org/ncbigene/91662	91662	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22938	HGNC:22938	NLR family pyrin domain containing 12	This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
http://nanbyodata.jp/ontology/NANDO_1200465	NANDO:1200465	NLRP3	http://identifiers.org/ncbigene/114548	114548	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16400	HGNC:16400	NLR family pyrin domain containing 3	This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NLRP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. The SARS-CoV 3a protein, a transmembrane pore-forming viroporin, has been shown to activate the NLRP3 inflammasome via the formation of ion channels in macrophages. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, neonatal-onset multisystem inflammatory disease (NOMID), keratoendotheliitis fugax hereditarian, and deafness, autosomal dominant 34, with or without inflammation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_2200432	NANDO:2200432	NLRP3	http://identifiers.org/ncbigene/114548	114548	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16400	HGNC:16400	NLR family pyrin domain containing 3	This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NLRP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. The SARS-CoV 3a protein, a transmembrane pore-forming viroporin, has been shown to activate the NLRP3 inflammasome via the formation of ion channels in macrophages. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, neonatal-onset multisystem inflammatory disease (NOMID), keratoendotheliitis fugax hereditarian, and deafness, autosomal dominant 34, with or without inflammation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	NME8	http://identifiers.org/ncbigene/51314	51314	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16473	HGNC:16473	NME/NM23 family member 8	This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_2200203	NANDO:2200203	NME8	http://identifiers.org/ncbigene/51314	51314	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16473	HGNC:16473	NME/NM23 family member 8	This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_1200777	NANDO:1200777	NNT	http://identifiers.org/ncbigene/23530	23530	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7863	HGNC:7863	nicotinamide nucleotide transhydrogenase	This gene encodes an integral protein of the inner mitochondrial membrane. The enzyme couples hydride transfer between NAD(H) and NADP(+) to proton translocation across the inner mitochondrial membrane. Under most physiological conditions, the enzyme uses energy from the mitochondrial proton gradient to produce high concentrations of NADPH. The resulting NADPH is used for biosynthesis and in free radical detoxification. [provided by RefSeq, Sep 2016]
http://nanbyodata.jp/ontology/NANDO_1200476	NANDO:1200476	NOD2	http://identifiers.org/ncbigene/64127	64127	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5331	HGNC:5331	nucleotide binding oligomerization domain containing 2	This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
http://nanbyodata.jp/ontology/NANDO_2200434	NANDO:2200434	NOD2	http://identifiers.org/ncbigene/64127	64127	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5331	HGNC:5331	nucleotide binding oligomerization domain containing 2	This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
http://nanbyodata.jp/ontology/NANDO_2200921	NANDO:2200921	NOD2	http://identifiers.org/ncbigene/64127	64127	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5331	HGNC:5331	nucleotide binding oligomerization domain containing 2	This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	NOP10	http://identifiers.org/ncbigene/55505	55505	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14378	HGNC:14378	NOP10 ribonucleoprotein	This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA2 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nop10p. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200342	NANDO:1200342	NOP10	http://identifiers.org/ncbigene/55505	55505	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14378	HGNC:14378	NOP10 ribonucleoprotein	This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA2 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nop10p. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200715	NANDO:2200715	NOP10	http://identifiers.org/ncbigene/55505	55505	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14378	HGNC:14378	NOP10 ribonucleoprotein	This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA2 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nop10p. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200037	NANDO:1200037	NOP56	http://identifiers.org/ncbigene/10528	10528	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15911	HGNC:15911	NOP56 ribonucleoprotein	Nop56p is a yeast nucleolar protein that is part of a complex with the nucleolar proteins Nop58p and fibrillarin. Nop56p is required for assembly of the 60S ribosomal subunit and is involved in pre-rRNA processing. The protein encoded by this gene is similar in sequence to Nop56p and is also found in the nucleolus. Expansion of a GGCCTG repeat from 3-8 copies to 1500-2500 copies in an intron of this gene results in spinocerebellar ataxia 36. Multiple transcript variants encoding several different isoforms have been found for this gene, but the full-length nature of most of them has not been determined. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_1200918	NANDO:1200918	NOTCH2	http://identifiers.org/ncbigene/4853	4853	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7882	HGNC:7882	notch receptor 2	This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
http://nanbyodata.jp/ontology/NANDO_2200931	NANDO:2200931	NOTCH2	http://identifiers.org/ncbigene/4853	4853	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7882	HGNC:7882	notch receptor 2	This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
http://nanbyodata.jp/ontology/NANDO_1200545	NANDO:1200545	NOTCH3	http://identifiers.org/ncbigene/4854	4854	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7883	HGNC:7883	notch receptor 3	This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	NPC1	http://identifiers.org/ncbigene/4864	4864	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7897	HGNC:7897	NPC intracellular cholesterol transporter 1	This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_1200063	NANDO:1200063	NPC1	http://identifiers.org/ncbigene/4864	4864	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7897	HGNC:7897	NPC intracellular cholesterol transporter 1	This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_2200561	NANDO:2200561	NPC1	http://identifiers.org/ncbigene/4864	4864	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7897	HGNC:7897	NPC intracellular cholesterol transporter 1	This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_2201208	NANDO:2201208	NPC1	http://identifiers.org/ncbigene/4864	4864	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7897	HGNC:7897	NPC intracellular cholesterol transporter 1	This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_2201209	NANDO:2201209	NPC1	http://identifiers.org/ncbigene/4864	4864	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7897	HGNC:7897	NPC intracellular cholesterol transporter 1	This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	NPC2	http://identifiers.org/ncbigene/10577	10577	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14537	HGNC:14537	NPC intracellular cholesterol transporter 2	This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200063	NANDO:1200063	NPC2	http://identifiers.org/ncbigene/10577	10577	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14537	HGNC:14537	NPC intracellular cholesterol transporter 2	This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200561	NANDO:2200561	NPC2	http://identifiers.org/ncbigene/10577	10577	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14537	HGNC:14537	NPC intracellular cholesterol transporter 2	This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201208	NANDO:2201208	NPC2	http://identifiers.org/ncbigene/10577	10577	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14537	HGNC:14537	NPC intracellular cholesterol transporter 2	This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201209	NANDO:2201209	NPC2	http://identifiers.org/ncbigene/10577	10577	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14537	HGNC:14537	NPC intracellular cholesterol transporter 2	This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	NPHP1	http://identifiers.org/ncbigene/4867	4867	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7905	HGNC:7905	nephrocystin 1	This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	NPHP1	http://identifiers.org/ncbigene/4867	4867	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7905	HGNC:7905	nephrocystin 1	This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200140	NANDO:2200140	NPHP1	http://identifiers.org/ncbigene/4867	4867	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7905	HGNC:7905	nephrocystin 1	This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200824	NANDO:2200824	NPHP1	http://identifiers.org/ncbigene/4867	4867	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7905	HGNC:7905	nephrocystin 1	This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	NPHP3	http://identifiers.org/ncbigene/27031	27031	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7907	HGNC:7907	nephrocystin 3	This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_2200140	NANDO:2200140	NPHP3	http://identifiers.org/ncbigene/27031	27031	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7907	HGNC:7907	nephrocystin 3	This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	NPHP4	http://identifiers.org/ncbigene/261734	261734	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19104	HGNC:19104	nephrocystin 4	This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	NPHP4	http://identifiers.org/ncbigene/261734	261734	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19104	HGNC:19104	nephrocystin 4	This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
http://nanbyodata.jp/ontology/NANDO_2200140	NANDO:2200140	NPHP4	http://identifiers.org/ncbigene/261734	261734	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19104	HGNC:19104	nephrocystin 4	This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
http://nanbyodata.jp/ontology/NANDO_2200110	NANDO:2200110	NPHS1	http://identifiers.org/ncbigene/4868	4868	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7908	HGNC:7908	NPHS1 adhesion molecule, nephrin	This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2200110	NANDO:2200110	NPHS2	http://identifiers.org/ncbigene/7827	7827	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13394	HGNC:13394	NPHS2 stomatin family member, podocin	This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_2200004	NANDO:2200004	NPM1	http://identifiers.org/ncbigene/4869	4869	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7910	HGNC:7910	nucleophosmin 1	The protein encoded by this gene is involved in several cellular processes, including centrosome duplication, protein chaperoning, and cell proliferation. The encoded phosphoprotein shuttles between the nucleolus, nucleus, and cytoplasm, chaperoning ribosomal proteins and core histones from the nucleus to the cytoplasm. This protein is also known to sequester the tumor suppressor ARF in the nucleolus, protecting it from degradation until it is needed. Mutations in this gene are associated with acute myeloid leukemia. Dozens of pseudogenes of this gene have been identified. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200005	NANDO:2200005	NPM1	http://identifiers.org/ncbigene/4869	4869	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7910	HGNC:7910	nucleophosmin 1	The protein encoded by this gene is involved in several cellular processes, including centrosome duplication, protein chaperoning, and cell proliferation. The encoded phosphoprotein shuttles between the nucleolus, nucleus, and cytoplasm, chaperoning ribosomal proteins and core histones from the nucleus to the cytoplasm. This protein is also known to sequester the tumor suppressor ARF in the nucleolus, protecting it from degradation until it is needed. Mutations in this gene are associated with acute myeloid leukemia. Dozens of pseudogenes of this gene have been identified. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200006	NANDO:2200006	NPM1	http://identifiers.org/ncbigene/4869	4869	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7910	HGNC:7910	nucleophosmin 1	The protein encoded by this gene is involved in several cellular processes, including centrosome duplication, protein chaperoning, and cell proliferation. The encoded phosphoprotein shuttles between the nucleolus, nucleus, and cytoplasm, chaperoning ribosomal proteins and core histones from the nucleus to the cytoplasm. This protein is also known to sequester the tumor suppressor ARF in the nucleolus, protecting it from degradation until it is needed. Mutations in this gene are associated with acute myeloid leukemia. Dozens of pseudogenes of this gene have been identified. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200007	NANDO:2200007	NPM1	http://identifiers.org/ncbigene/4869	4869	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7910	HGNC:7910	nucleophosmin 1	The protein encoded by this gene is involved in several cellular processes, including centrosome duplication, protein chaperoning, and cell proliferation. The encoded phosphoprotein shuttles between the nucleolus, nucleus, and cytoplasm, chaperoning ribosomal proteins and core histones from the nucleus to the cytoplasm. This protein is also known to sequester the tumor suppressor ARF in the nucleolus, protecting it from degradation until it is needed. Mutations in this gene are associated with acute myeloid leukemia. Dozens of pseudogenes of this gene have been identified. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200008	NANDO:2200008	NPM1	http://identifiers.org/ncbigene/4869	4869	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7910	HGNC:7910	nucleophosmin 1	The protein encoded by this gene is involved in several cellular processes, including centrosome duplication, protein chaperoning, and cell proliferation. The encoded phosphoprotein shuttles between the nucleolus, nucleus, and cytoplasm, chaperoning ribosomal proteins and core histones from the nucleus to the cytoplasm. This protein is also known to sequester the tumor suppressor ARF in the nucleolus, protecting it from degradation until it is needed. Mutations in this gene are associated with acute myeloid leukemia. Dozens of pseudogenes of this gene have been identified. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200009	NANDO:2200009	NPM1	http://identifiers.org/ncbigene/4869	4869	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7910	HGNC:7910	nucleophosmin 1	The protein encoded by this gene is involved in several cellular processes, including centrosome duplication, protein chaperoning, and cell proliferation. The encoded phosphoprotein shuttles between the nucleolus, nucleus, and cytoplasm, chaperoning ribosomal proteins and core histones from the nucleus to the cytoplasm. This protein is also known to sequester the tumor suppressor ARF in the nucleolus, protecting it from degradation until it is needed. Mutations in this gene are associated with acute myeloid leukemia. Dozens of pseudogenes of this gene have been identified. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200010	NANDO:2200010	NPM1	http://identifiers.org/ncbigene/4869	4869	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7910	HGNC:7910	nucleophosmin 1	The protein encoded by this gene is involved in several cellular processes, including centrosome duplication, protein chaperoning, and cell proliferation. The encoded phosphoprotein shuttles between the nucleolus, nucleus, and cytoplasm, chaperoning ribosomal proteins and core histones from the nucleus to the cytoplasm. This protein is also known to sequester the tumor suppressor ARF in the nucleolus, protecting it from degradation until it is needed. Mutations in this gene are associated with acute myeloid leukemia. Dozens of pseudogenes of this gene have been identified. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200011	NANDO:2200011	NPM1	http://identifiers.org/ncbigene/4869	4869	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7910	HGNC:7910	nucleophosmin 1	The protein encoded by this gene is involved in several cellular processes, including centrosome duplication, protein chaperoning, and cell proliferation. The encoded phosphoprotein shuttles between the nucleolus, nucleus, and cytoplasm, chaperoning ribosomal proteins and core histones from the nucleus to the cytoplasm. This protein is also known to sequester the tumor suppressor ARF in the nucleolus, protecting it from degradation until it is needed. Mutations in this gene are associated with acute myeloid leukemia. Dozens of pseudogenes of this gene have been identified. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2201498	NANDO:2201498	NPRL3	http://identifiers.org/ncbigene/8131	8131	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14124	HGNC:14124	NPR3 like, GATOR1 complex subunit	The function of the encoded protein is not known. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_1200403	NANDO:1200403	NR0B1	http://identifiers.org/ncbigene/190	190	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7960	HGNC:7960	nuclear receptor subfamily 0 group B member 1	This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200404	NANDO:1200404	NR0B1	http://identifiers.org/ncbigene/190	190	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7960	HGNC:7960	nuclear receptor subfamily 0 group B member 1	This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200357	NANDO:2200357	NR0B1	http://identifiers.org/ncbigene/190	190	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7960	HGNC:7960	nuclear receptor subfamily 0 group B member 1	This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200392	NANDO:2200392	NR0B1	http://identifiers.org/ncbigene/190	190	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7960	HGNC:7960	nuclear receptor subfamily 0 group B member 1	This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201042	NANDO:1201042	NR1H4	http://identifiers.org/ncbigene/9971	9971	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7967	HGNC:7967	nuclear receptor subfamily 1 group H member 4	This gene encodes a ligand-activated transcription factor that shares structural features in common with nuclear hormone receptor family members. This protein functions as a receptor for bile acids, and when bound to bile acids, binds to DNA and regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_1201047	NANDO:1201047	NR1H4	http://identifiers.org/ncbigene/9971	9971	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7967	HGNC:7967	nuclear receptor subfamily 1 group H member 4	This gene encodes a ligand-activated transcription factor that shares structural features in common with nuclear hormone receptor family members. This protein functions as a receptor for bile acids, and when bound to bile acids, binds to DNA and regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_2200358	NANDO:2200358	NR3C1	http://identifiers.org/ncbigene/2908	2908	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7978	HGNC:7978	nuclear receptor subfamily 3 group C member 1	This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This receptor is typically found in the cytoplasm, but upon ligand binding, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in target tissues. Mutations in this gene are associated with generalized glucocorticoid resistance. Alternative splicing of this gene results in transcript variants encoding either the same or different isoforms. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_2200368	NANDO:2200368	NR3C2	http://identifiers.org/ncbigene/4306	4306	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7979	HGNC:7979	nuclear receptor subfamily 3 group C member 2	This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200403	NANDO:1200403	NR5A1	http://identifiers.org/ncbigene/2516	2516	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7983	HGNC:7983	nuclear receptor subfamily 5 group A member 1	The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200405	NANDO:1200405	NR5A1	http://identifiers.org/ncbigene/2516	2516	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7983	HGNC:7983	nuclear receptor subfamily 5 group A member 1	The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200383	NANDO:2200383	NR5A1	http://identifiers.org/ncbigene/2516	2516	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7983	HGNC:7983	nuclear receptor subfamily 5 group A member 1	The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200384	NANDO:2200384	NR5A1	http://identifiers.org/ncbigene/2516	2516	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7983	HGNC:7983	nuclear receptor subfamily 5 group A member 1	The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200392	NANDO:2200392	NR5A1	http://identifiers.org/ncbigene/2516	2516	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7983	HGNC:7983	nuclear receptor subfamily 5 group A member 1	The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200680	NANDO:1200680	NRAS	http://identifiers.org/ncbigene/4893	4893	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7989	HGNC:7989	NRAS proto-oncogene, GTPase	This is an N-ras oncogene encoding a membrane protein that shuttles between the Golgi apparatus and the plasma membrane. This shuttling is regulated through palmitoylation and depalmitoylation by the ZDHHC9-GOLGA7 complex. The encoded protein, which has intrinsic GTPase activity, is activated by a guanine nucleotide-exchange factor and inactivated by a GTPase activating protein. Mutations in this gene have been associated with somatic rectal cancer, follicular thyroid cancer, autoimmune lymphoproliferative syndrome, Noonan syndrome, and juvenile myelomonocytic leukemia. [provided by RefSeq, Jun 2011]
http://nanbyodata.jp/ontology/NANDO_2200015	NANDO:2200015	NRAS	http://identifiers.org/ncbigene/4893	4893	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7989	HGNC:7989	NRAS proto-oncogene, GTPase	This is an N-ras oncogene encoding a membrane protein that shuttles between the Golgi apparatus and the plasma membrane. This shuttling is regulated through palmitoylation and depalmitoylation by the ZDHHC9-GOLGA7 complex. The encoded protein, which has intrinsic GTPase activity, is activated by a guanine nucleotide-exchange factor and inactivated by a GTPase activating protein. Mutations in this gene have been associated with somatic rectal cancer, follicular thyroid cancer, autoimmune lymphoproliferative syndrome, Noonan syndrome, and juvenile myelomonocytic leukemia. [provided by RefSeq, Jun 2011]
http://nanbyodata.jp/ontology/NANDO_2200811	NANDO:2200811	NRAS	http://identifiers.org/ncbigene/4893	4893	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7989	HGNC:7989	NRAS proto-oncogene, GTPase	This is an N-ras oncogene encoding a membrane protein that shuttles between the Golgi apparatus and the plasma membrane. This shuttling is regulated through palmitoylation and depalmitoylation by the ZDHHC9-GOLGA7 complex. The encoded protein, which has intrinsic GTPase activity, is activated by a guanine nucleotide-exchange factor and inactivated by a GTPase activating protein. Mutations in this gene have been associated with somatic rectal cancer, follicular thyroid cancer, autoimmune lymphoproliferative syndrome, Noonan syndrome, and juvenile myelomonocytic leukemia. [provided by RefSeq, Jun 2011]
http://nanbyodata.jp/ontology/NANDO_1200679	NANDO:1200679	NSD1	http://identifiers.org/ncbigene/64324	64324	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14234	HGNC:14234	nuclear receptor binding SET domain protein 1	This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018]
http://nanbyodata.jp/ontology/NANDO_2200953	NANDO:2200953	NSD1	http://identifiers.org/ncbigene/64324	64324	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14234	HGNC:14234	nuclear receptor binding SET domain protein 1	This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018]
http://nanbyodata.jp/ontology/NANDO_1200609	NANDO:1200609	NSDHL	http://identifiers.org/ncbigene/50814	50814	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13398	HGNC:13398	NAD(P) dependent steroid dehydrogenase-like	The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200995	NANDO:2200995	NSDHL	http://identifiers.org/ncbigene/50814	50814	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13398	HGNC:13398	NAD(P) dependent steroid dehydrogenase-like	The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200998	NANDO:2200998	NSDHL	http://identifiers.org/ncbigene/50814	50814	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13398	HGNC:13398	NAD(P) dependent steroid dehydrogenase-like	The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201017	NANDO:2201017	NSDHL	http://identifiers.org/ncbigene/50814	50814	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13398	HGNC:13398	NAD(P) dependent steroid dehydrogenase-like	The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201358	NANDO:2201358	NSDHL	http://identifiers.org/ncbigene/50814	50814	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13398	HGNC:13398	NAD(P) dependent steroid dehydrogenase-like	The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200553	NANDO:1200553	NTRK1	http://identifiers.org/ncbigene/4914	4914	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8031	HGNC:8031	neurotrophic receptor tyrosine kinase 1	This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, cognitive disability and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200854	NANDO:2200854	NTRK1	http://identifiers.org/ncbigene/4914	4914	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8031	HGNC:8031	neurotrophic receptor tyrosine kinase 1	This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, cognitive disability and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200060	NANDO:2200060	NTRK3	http://identifiers.org/ncbigene/4916	4916	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8033	HGNC:8033	neurotrophic receptor tyrosine kinase 3	This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
http://nanbyodata.jp/ontology/NANDO_2200120	NANDO:2200120	NUP107	http://identifiers.org/ncbigene/57122	57122	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29914	HGNC:29914	nucleoporin 107	This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201385	NANDO:2201385	NUP107	http://identifiers.org/ncbigene/57122	57122	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29914	HGNC:29914	nucleoporin 107	This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200120	NANDO:2200120	NUP133	http://identifiers.org/ncbigene/55746	55746	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18016	HGNC:18016	nucleoporin 133	The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201385	NANDO:2201385	NUP133	http://identifiers.org/ncbigene/55746	55746	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18016	HGNC:18016	nucleoporin 133	The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200004	NANDO:2200004	NUP214	http://identifiers.org/ncbigene/8021	8021	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8064	HGNC:8064	nucleoporin 214	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_2200005	NANDO:2200005	NUP214	http://identifiers.org/ncbigene/8021	8021	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8064	HGNC:8064	nucleoporin 214	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_2200006	NANDO:2200006	NUP214	http://identifiers.org/ncbigene/8021	8021	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8064	HGNC:8064	nucleoporin 214	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_2200007	NANDO:2200007	NUP214	http://identifiers.org/ncbigene/8021	8021	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8064	HGNC:8064	nucleoporin 214	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_2200008	NANDO:2200008	NUP214	http://identifiers.org/ncbigene/8021	8021	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8064	HGNC:8064	nucleoporin 214	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_2200009	NANDO:2200009	NUP214	http://identifiers.org/ncbigene/8021	8021	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8064	HGNC:8064	nucleoporin 214	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_2200010	NANDO:2200010	NUP214	http://identifiers.org/ncbigene/8021	8021	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8064	HGNC:8064	nucleoporin 214	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_2200011	NANDO:2200011	NUP214	http://identifiers.org/ncbigene/8021	8021	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8064	HGNC:8064	nucleoporin 214	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_2200019	NANDO:2200019	NUP214	http://identifiers.org/ncbigene/8021	8021	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8064	HGNC:8064	nucleoporin 214	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_2200462	NANDO:2200462	NeuroD1	http://identifiers.org/ncbigene/4760	4760	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7762	HGNC:7762	neuronal differentiation 1	This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200637	NANDO:1200637	OCA2	http://identifiers.org/ncbigene/4948	4948	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8101	HGNC:8101	OCA2 melanosomal transmembrane protein	This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_1200641	NANDO:1200641	OCA2	http://identifiers.org/ncbigene/4948	4948	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8101	HGNC:8101	OCA2 melanosomal transmembrane protein	This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_2200986	NANDO:2200986	OCA2	http://identifiers.org/ncbigene/4948	4948	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8101	HGNC:8101	OCA2 melanosomal transmembrane protein	This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_1201116	NANDO:1201116	OCRL	http://identifiers.org/ncbigene/4952	4952	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8108	HGNC:8108	OCRL inositol polyphosphate-5-phosphatase	This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_2200187	NANDO:2200187	OCRL	http://identifiers.org/ncbigene/4952	4952	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8108	HGNC:8108	OCRL inositol polyphosphate-5-phosphatase	This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_2200188	NANDO:2200188	OCRL	http://identifiers.org/ncbigene/4952	4952	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8108	HGNC:8108	OCRL inositol polyphosphate-5-phosphatase	This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	ODAD1	http://identifiers.org/ncbigene/93233	93233	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26560	HGNC:26560	outer dynein arm docking complex subunit 1	This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20. [provided by RefSeq, May 2013]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	ODAD2	http://identifiers.org/ncbigene/55130	55130	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25583	HGNC:25583	outer dynein arm docking complex subunit 2	The protein encoded by this gene contains ten Armadillo repeat motifs (ARMs) and one HEAT repeat, and is thought to be involved in ciliary and flagellar movement. This protein has been shown to localize to the ciliary axonemes and at the ciliary base of respiratory cells. Studies indicate that mutations in this gene cause partial outer dynein arm (ODA) defects in respiratory cilia. The cilia of cells with mutations in this gene displayed either reduced ciliary beat frequency and amplitude, or, complete immotility. Some individuals with primary ciliary dyskensia (PCD) have been shown to have mutations in this gene. PCD is characterized by chronic airway disease and left/right body asymmetry defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	ODAD3	http://identifiers.org/ncbigene/115948	115948	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28303	HGNC:28303	outer dynein arm docking complex subunit 3	This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	ODAD4	http://identifiers.org/ncbigene/83538	83538	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25280	HGNC:25280	outer dynein arm docking complex subunit 4	This gene encodes a tetratricopeptide repeat domain-containing protein that localizes to ciliary axonmenes and plays a role in the docking of the outer dynein arm to cilia. Mutations in this gene cause severely reduced ciliary motility and the disorder CILD35 (ciliary dyskinesia,primary, 35). Primary ciliary dyskinesia is often associated with recurrent respiratory infections, immotile spermatozoa, and situs inversus; an inversion in left-right body symmetry. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	OFD1	http://identifiers.org/ncbigene/8481	8481	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2567	HGNC:2567	OFD1 centriole and centriolar satellite protein	This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	OFD1	http://identifiers.org/ncbigene/8481	8481	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2567	HGNC:2567	OFD1 centriole and centriolar satellite protein	This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016]
http://nanbyodata.jp/ontology/NANDO_2200203	NANDO:2200203	OFD1	http://identifiers.org/ncbigene/8481	8481	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2567	HGNC:2567	OFD1 centriole and centriolar satellite protein	This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016]
http://nanbyodata.jp/ontology/NANDO_2201401	NANDO:2201401	OFD1	http://identifiers.org/ncbigene/8481	8481	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2567	HGNC:2567	OFD1 centriole and centriolar satellite protein	This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016]
http://nanbyodata.jp/ontology/NANDO_1200989	NANDO:1200989	OPA3	http://identifiers.org/ncbigene/80207	80207	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8142	HGNC:8142	outer mitochondrial membrane lipid metabolism regulator OPA3	The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200992	NANDO:1200992	OPA3	http://identifiers.org/ncbigene/80207	80207	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8142	HGNC:8142	outer mitochondrial membrane lipid metabolism regulator OPA3	The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2200496	NANDO:2200496	OPA3	http://identifiers.org/ncbigene/80207	80207	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8142	HGNC:8142	outer mitochondrial membrane lipid metabolism regulator OPA3	The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200998	NANDO:1200998	OSTM1	http://identifiers.org/ncbigene/28962	28962	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21652	HGNC:21652	osteoclastogenesis associated transmembrane protein 1	This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201013	NANDO:2201013	OSTM1	http://identifiers.org/ncbigene/28962	28962	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21652	HGNC:21652	osteoclastogenesis associated transmembrane protein 1	This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200802	NANDO:1200802	OTC	http://identifiers.org/ncbigene/5009	5009	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8512	HGNC:8512	ornithine transcarbamylase	This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200804	NANDO:1200804	OTC	http://identifiers.org/ncbigene/5009	5009	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8512	HGNC:8512	ornithine transcarbamylase	This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200479	NANDO:2200479	OTC	http://identifiers.org/ncbigene/5009	5009	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8512	HGNC:8512	ornithine transcarbamylase	This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200499	NANDO:2200499	OXCT1	http://identifiers.org/ncbigene/5019	5019	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8527	HGNC:8527	3-oxoacid CoA-transferase 1	This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200659	NANDO:2200659	P2RY12	http://identifiers.org/ncbigene/64805	64805	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18124	HGNC:18124	purinergic receptor P2Y12	The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is involved in platelet aggregation, and is a potential target for the treatment of thromboembolisms and other clotting disorders. Mutations in this gene are implicated in bleeding disorder, platelet type 8 (BDPLT8). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_2200669	NANDO:2200669	P2RY12	http://identifiers.org/ncbigene/64805	64805	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18124	HGNC:18124	purinergic receptor P2Y12	The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is involved in platelet aggregation, and is a potential target for the treatment of thromboembolisms and other clotting disorders. Mutations in this gene are implicated in bleeding disorder, platelet type 8 (BDPLT8). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_1200873	NANDO:1200873	P3H1	http://identifiers.org/ncbigene/64175	64175	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19316	HGNC:19316	prolyl 3-hydroxylase 1	This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_2201011	NANDO:2201011	P3H1	http://identifiers.org/ncbigene/64175	64175	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19316	HGNC:19316	prolyl 3-hydroxylase 1	This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	PABPN1	http://identifiers.org/ncbigene/8106	8106	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8565	HGNC:8565	poly(A) binding protein nuclear 1	This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3' ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene. [provided by RefSeq, Dec 2010]
http://nanbyodata.jp/ontology/NANDO_1200574	NANDO:1200574	PAFAH1B1	http://identifiers.org/ncbigene/5048	5048	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8574	HGNC:8574	platelet activating factor acetylhydrolase 1b regulatory subunit 1	This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]
http://nanbyodata.jp/ontology/NANDO_1201083	NANDO:1201083	PAFAH1B1	http://identifiers.org/ncbigene/5048	5048	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8574	HGNC:8574	platelet activating factor acetylhydrolase 1b regulatory subunit 1	This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]
http://nanbyodata.jp/ontology/NANDO_2200817	NANDO:2200817	PAFAH1B1	http://identifiers.org/ncbigene/5048	5048	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8574	HGNC:8574	platelet activating factor acetylhydrolase 1b regulatory subunit 1	This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]
http://nanbyodata.jp/ontology/NANDO_1200784	NANDO:1200784	PAH	http://identifiers.org/ncbigene/5053	5053	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8582	HGNC:8582	phenylalanine hydroxylase	This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200467	NANDO:2200467	PAH	http://identifiers.org/ncbigene/5053	5053	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8582	HGNC:8582	phenylalanine hydroxylase	This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200891	NANDO:1200891	PALB2	http://identifiers.org/ncbigene/79728	79728	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26144	HGNC:26144	partner and localizer of BRCA2	This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200534	NANDO:1200534	PANK2	http://identifiers.org/ncbigene/80025	80025	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15894	HGNC:15894	pantothenate kinase 2	This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200542	NANDO:1200542	PANK2	http://identifiers.org/ncbigene/80025	80025	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15894	HGNC:15894	pantothenate kinase 2	This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200886	NANDO:2200886	PANK2	http://identifiers.org/ncbigene/80025	80025	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15894	HGNC:15894	pantothenate kinase 2	This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200056	NANDO:2200056	PAX3	http://identifiers.org/ncbigene/5077	5077	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8617	HGNC:8617	paired box 3	This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201000	NANDO:1201000	PAX6	http://identifiers.org/ncbigene/5080	5080	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8620	HGNC:8620	paired box 6	This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain. [provided by RefSeq, Mar 2019]
http://nanbyodata.jp/ontology/NANDO_1201001	NANDO:1201001	PAX6	http://identifiers.org/ncbigene/5080	5080	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8620	HGNC:8620	paired box 6	This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain. [provided by RefSeq, Mar 2019]
http://nanbyodata.jp/ontology/NANDO_2200463	NANDO:2200463	PAX6	http://identifiers.org/ncbigene/5080	5080	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8620	HGNC:8620	paired box 6	This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain. [provided by RefSeq, Mar 2019]
http://nanbyodata.jp/ontology/NANDO_2201435	NANDO:2201435	PAX6	http://identifiers.org/ncbigene/5080	5080	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8620	HGNC:8620	paired box 6	This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain. [provided by RefSeq, Mar 2019]
http://nanbyodata.jp/ontology/NANDO_2200056	NANDO:2200056	PAX7	http://identifiers.org/ncbigene/5081	5081	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8621	HGNC:8621	paired box 7	This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
http://nanbyodata.jp/ontology/NANDO_2200001	NANDO:2200001	PBX1	http://identifiers.org/ncbigene/5087	5087	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8632	HGNC:8632	PBX homeobox 1	This gene encodes a nuclear protein that belongs to the PBX homeobox family of transcriptional factors. Studies in mice suggest that this gene may be involved in the regulation of osteogenesis and required for skeletal patterning and programming. A chromosomal translocation, t(1;19) involving this gene and TCF3/E2A gene, is associated with pre-B-cell acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain of E2A is replaced by the DNA binding domain of this protein, transforms cells by constitutively activating transcription of genes regulated by the PBX protein family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	PCBD1	http://identifiers.org/ncbigene/5092	5092	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8646	HGNC:8646	pterin-4 alpha-carbinolamine dehydratase 1	This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
http://nanbyodata.jp/ontology/NANDO_1200516	NANDO:1200516	PCBD1	http://identifiers.org/ncbigene/5092	5092	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8646	HGNC:8646	pterin-4 alpha-carbinolamine dehydratase 1	This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
http://nanbyodata.jp/ontology/NANDO_1200792	NANDO:1200792	PCCA	http://identifiers.org/ncbigene/5095	5095	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8653	HGNC:8653	propionyl-CoA carboxylase subunit alpha	The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2200492	NANDO:2200492	PCCA	http://identifiers.org/ncbigene/5095	5095	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8653	HGNC:8653	propionyl-CoA carboxylase subunit alpha	The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_1200792	NANDO:1200792	PCCB	http://identifiers.org/ncbigene/5096	5096	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8654	HGNC:8654	propionyl-CoA carboxylase subunit beta	The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2200492	NANDO:2200492	PCCB	http://identifiers.org/ncbigene/5096	5096	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8654	HGNC:8654	propionyl-CoA carboxylase subunit beta	The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_1200941	NANDO:1200941	PCDH15	http://identifiers.org/ncbigene/65217	65217	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14674	HGNC:14674	protocadherin related 15	This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_1200942	NANDO:1200942	PCDH15	http://identifiers.org/ncbigene/65217	65217	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14674	HGNC:14674	protocadherin related 15	This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_1200599	NANDO:1200599	PCDH19	http://identifiers.org/ncbigene/57526	57526	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14270	HGNC:14270	protocadherin 19	The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Mutations in this gene on human chromosome X are associated with sporadic infantile epileptic encephalopathy and to a female-restricted form of epilepsy (EFMR; also known as PCDH19RE). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
http://nanbyodata.jp/ontology/NANDO_2201404	NANDO:2201404	PCDH19	http://identifiers.org/ncbigene/57526	57526	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14270	HGNC:14270	protocadherin 19	The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Mutations in this gene on human chromosome X are associated with sporadic infantile epileptic encephalopathy and to a female-restricted form of epilepsy (EFMR; also known as PCDH19RE). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
http://nanbyodata.jp/ontology/NANDO_2200536	NANDO:2200536	PCK1	http://identifiers.org/ncbigene/5105	5105	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8724	HGNC:8724	phosphoenolpyruvate carboxykinase 1	This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200536	NANDO:2200536	PCK2	http://identifiers.org/ncbigene/5106	5106	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8725	HGNC:8725	phosphoenolpyruvate carboxykinase 2, mitochondrial	This gene encodes a mitochondrial enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of guanosine triphosphate (GTP). A cytosolic form of this protein is encoded by a different gene and is the key enzyme of gluconeogenesis in the liver. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2014]
http://nanbyodata.jp/ontology/NANDO_1200394	NANDO:1200394	PCSK9	http://identifiers.org/ncbigene/255738	255738	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20001	HGNC:20001	proprotein convertase subtilisin/kexin type 9	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
http://nanbyodata.jp/ontology/NANDO_2200602	NANDO:2200602	PCSK9	http://identifiers.org/ncbigene/255738	255738	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20001	HGNC:20001	proprotein convertase subtilisin/kexin type 9	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
http://nanbyodata.jp/ontology/NANDO_1200598	NANDO:1200598	PDCD1	http://identifiers.org/ncbigene/5133	5133	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8760	HGNC:8760	programmed cell death 1	Programmed cell death protein 1 (PDCD1) is an immune-inhibitory receptor expressed in activated T cells; it is involved in the regulation of T-cell functions, including those of effector CD8+ T cells. In addition, this protein can also promote the differentiation of CD4+ T cells into T regulatory cells. PDCD1 is expressed in many types of tumors including melanomas, and has demonstrated to play a role in anti-tumor immunity. Moreover, this protein has been shown to be involved in safeguarding against autoimmunity, however, it can also contribute to the inhibition of effective anti-tumor and anti-microbial immunity. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_1200431	NANDO:1200431	PDE6B	http://identifiers.org/ncbigene/5158	5158	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8786	HGNC:8786	phosphodiesterase 6B	Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	PDE6D	http://identifiers.org/ncbigene/5147	5147	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8788	HGNC:8788	phosphodiesterase 6D	This gene encodes the delta subunit of rod-specific photoreceptor phosphodiesterase (PDE), a key enzyme in the phototransduction cascade. A similar protein in cow functions in solubilizing membrane-bound PDE. In addition to its role in the PDE complex, the encoded protein is thought to bind to prenyl groups of proteins to target them to subcellular organelles called cilia. Mutations in this gene are associated with Joubert syndrome-22. Alternative splicing results in multiple splice variants. [provided by RefSeq, Mar 2014]
http://nanbyodata.jp/ontology/NANDO_1200207	NANDO:1200207	PDGFB	http://identifiers.org/ncbigene/5155	5155	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8800	HGNC:8800	platelet derived growth factor subunit B	This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit B, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit A. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 17, at sites where this gene and that for collagen type 1, alpha 1 are located, are associated with dermatofibrosarcoma protuberans, a rare skin tumor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_2200014	NANDO:2200014	PDGFRA	http://identifiers.org/ncbigene/5156	5156	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8803	HGNC:8803	platelet derived growth factor receptor alpha	This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_2200805	NANDO:2200805	PDGFRA	http://identifiers.org/ncbigene/5156	5156	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8803	HGNC:8803	platelet derived growth factor receptor alpha	This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_2200806	NANDO:2200806	PDGFRA	http://identifiers.org/ncbigene/5156	5156	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8803	HGNC:8803	platelet derived growth factor receptor alpha	This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_1200207	NANDO:1200207	PDGFRB	http://identifiers.org/ncbigene/5159	5159	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8804	HGNC:8804	platelet derived growth factor receptor beta	The protein encoded by this gene is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer (PDGFB or PDGFD) or a heterodimer (PDGFA and PDGFB). This gene is essential for normal development of the cardiovascular system and aids in rearrangement of the actin cytoskeleton. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the ETV6 gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200014	NANDO:2200014	PDGFRB	http://identifiers.org/ncbigene/5159	5159	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8804	HGNC:8804	platelet derived growth factor receptor beta	The protein encoded by this gene is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer (PDGFB or PDGFD) or a heterodimer (PDGFA and PDGFB). This gene is essential for normal development of the cardiovascular system and aids in rearrangement of the actin cytoskeleton. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the ETV6 gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200173	NANDO:1200173	PDHA1	http://identifiers.org/ncbigene/5160	5160	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8806	HGNC:8806	pyruvate dehydrogenase E1 subunit alpha 1	The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200473	NANDO:2200473	PDHA1	http://identifiers.org/ncbigene/5160	5160	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8806	HGNC:8806	pyruvate dehydrogenase E1 subunit alpha 1	The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200518	NANDO:2200518	PDHA1	http://identifiers.org/ncbigene/5160	5160	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8806	HGNC:8806	pyruvate dehydrogenase E1 subunit alpha 1	The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200473	NANDO:2200473	PDHB	http://identifiers.org/ncbigene/5162	5162	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8808	HGNC:8808	pyruvate dehydrogenase E1 subunit beta	The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_2200518	NANDO:2200518	PDHB	http://identifiers.org/ncbigene/5162	5162	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8808	HGNC:8808	pyruvate dehydrogenase E1 subunit beta	The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_2200518	NANDO:2200518	PDHX	http://identifiers.org/ncbigene/8050	8050	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21350	HGNC:21350	pyruvate dehydrogenase complex component X	The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2200518	NANDO:2200518	PDK1	http://identifiers.org/ncbigene/5163	5163	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8809	HGNC:8809	pyruvate dehydrogenase kinase 1	Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]
http://nanbyodata.jp/ontology/NANDO_2200518	NANDO:2200518	PDK2	http://identifiers.org/ncbigene/5164	5164	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8810	HGNC:8810	pyruvate dehydrogenase kinase 2	This gene encodes a member of the pyruvate dehydrogenase kinase family. The encoded protein phosphorylates pyruvate dehydrogenase, down-regulating the activity of the mitochondrial pyruvate dehydrogenase complex. Overexpression of this gene may play a role in both cancer and diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
http://nanbyodata.jp/ontology/NANDO_2200518	NANDO:2200518	PDK3	http://identifiers.org/ncbigene/5165	5165	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8811	HGNC:8811	pyruvate dehydrogenase kinase 3	The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2). It provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle, and thus is one of the major enzymes responsible for the regulation of glucose metabolism. The enzymatic activity of PDH is regulated by a phosphorylation/dephosphorylation cycle, and phosphorylation results in inactivation of PDH. The protein encoded by this gene is one of the three pyruvate dehydrogenase kinases that inhibits the PDH complex by phosphorylation of the E1 alpha subunit. This gene is predominantly expressed in the heart and skeletal muscles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200518	NANDO:2200518	PDK4	http://identifiers.org/ncbigene/5166	5166	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8812	HGNC:8812	pyruvate dehydrogenase kinase 4	This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism. Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200518	NANDO:2200518	PDP1	http://identifiers.org/ncbigene/54704	54704	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9279	HGNC:9279	pyruvate dehydrogenase phosphatase catalytic subunit 1	Pyruvate dehydrogenase (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenase complex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E1 to inactivate the E1 component and inhibit the complex. Pyruvate dehydrogenase phosphatases catalyze the dephosphorylation and activation of the E1 component to reverse the effects of pyruvate dehydrogenase kinases. Pyruvate dehydrogenase phosphatase is a heterodimer consisting of catalytic and regulatory subunits. Two catalytic subunits have been reported; one is predominantly expressed in skeletal muscle and another one is is much more abundant in the liver. The catalytic subunit, encoded by this gene, is the former, and belongs to the protein phosphatase 2C (PP2C) superfamily. Along with the pyruvate dehydrogenase complex and pyruvate dehydrogenase kinases, this enzyme is located in the mitochondrial matrix. Mutation in this gene causes pyruvate dehydrogenase phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]
http://nanbyodata.jp/ontology/NANDO_2200518	NANDO:2200518	PDP2	http://identifiers.org/ncbigene/57546	57546	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30263	HGNC:30263	pyruvate dehyrogenase phosphatase catalytic subunit 2	This gene is a mitochondrial protein that functions as a phosphatase and is involved in the enzymatic resetting of the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2016]
http://nanbyodata.jp/ontology/NANDO_2200462	NANDO:2200462	PDX1	http://identifiers.org/ncbigene/3651	3651	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6107	HGNC:6107	pancreatic and duodenal homeobox 1	The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (IDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200463	NANDO:2200463	PDX1	http://identifiers.org/ncbigene/3651	3651	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6107	HGNC:6107	pancreatic and duodenal homeobox 1	The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (IDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2201072	NANDO:2201072	PDX1	http://identifiers.org/ncbigene/3651	3651	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6107	HGNC:6107	pancreatic and duodenal homeobox 1	The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (IDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2201435	NANDO:2201435	PDX1	http://identifiers.org/ncbigene/3651	3651	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6107	HGNC:6107	pancreatic and duodenal homeobox 1	The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (IDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200758	NANDO:1200758	PEX1	http://identifiers.org/ncbigene/5189	5189	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8850	HGNC:8850	peroxisomal biogenesis factor 1	This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]
http://nanbyodata.jp/ontology/NANDO_1200759	NANDO:1200759	PEX1	http://identifiers.org/ncbigene/5189	5189	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8850	HGNC:8850	peroxisomal biogenesis factor 1	This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]
http://nanbyodata.jp/ontology/NANDO_1200760	NANDO:1200760	PEX1	http://identifiers.org/ncbigene/5189	5189	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8850	HGNC:8850	peroxisomal biogenesis factor 1	This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]
http://nanbyodata.jp/ontology/NANDO_2200575	NANDO:2200575	PEX1	http://identifiers.org/ncbigene/5189	5189	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8850	HGNC:8850	peroxisomal biogenesis factor 1	This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]
http://nanbyodata.jp/ontology/NANDO_1200758	NANDO:1200758	PEX10	http://identifiers.org/ncbigene/5192	5192	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8851	HGNC:8851	peroxisomal biogenesis factor 10	This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200759	NANDO:1200759	PEX10	http://identifiers.org/ncbigene/5192	5192	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8851	HGNC:8851	peroxisomal biogenesis factor 10	This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200760	NANDO:1200760	PEX10	http://identifiers.org/ncbigene/5192	5192	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8851	HGNC:8851	peroxisomal biogenesis factor 10	This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200575	NANDO:2200575	PEX10	http://identifiers.org/ncbigene/5192	5192	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8851	HGNC:8851	peroxisomal biogenesis factor 10	This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200758	NANDO:1200758	PEX12	http://identifiers.org/ncbigene/5193	5193	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8854	HGNC:8854	peroxisomal biogenesis factor 12	This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200759	NANDO:1200759	PEX12	http://identifiers.org/ncbigene/5193	5193	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8854	HGNC:8854	peroxisomal biogenesis factor 12	This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200760	NANDO:1200760	PEX12	http://identifiers.org/ncbigene/5193	5193	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8854	HGNC:8854	peroxisomal biogenesis factor 12	This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200575	NANDO:2200575	PEX12	http://identifiers.org/ncbigene/5193	5193	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8854	HGNC:8854	peroxisomal biogenesis factor 12	This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200758	NANDO:1200758	PEX13	http://identifiers.org/ncbigene/5194	5194	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8855	HGNC:8855	peroxisomal biogenesis factor 13	This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200759	NANDO:1200759	PEX13	http://identifiers.org/ncbigene/5194	5194	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8855	HGNC:8855	peroxisomal biogenesis factor 13	This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200760	NANDO:1200760	PEX13	http://identifiers.org/ncbigene/5194	5194	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8855	HGNC:8855	peroxisomal biogenesis factor 13	This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200575	NANDO:2200575	PEX13	http://identifiers.org/ncbigene/5194	5194	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8855	HGNC:8855	peroxisomal biogenesis factor 13	This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200758	NANDO:1200758	PEX14	http://identifiers.org/ncbigene/5195	5195	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8856	HGNC:8856	peroxisomal biogenesis factor 14	This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200759	NANDO:1200759	PEX14	http://identifiers.org/ncbigene/5195	5195	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8856	HGNC:8856	peroxisomal biogenesis factor 14	This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200760	NANDO:1200760	PEX14	http://identifiers.org/ncbigene/5195	5195	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8856	HGNC:8856	peroxisomal biogenesis factor 14	This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200575	NANDO:2200575	PEX14	http://identifiers.org/ncbigene/5195	5195	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8856	HGNC:8856	peroxisomal biogenesis factor 14	This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200758	NANDO:1200758	PEX16	http://identifiers.org/ncbigene/9409	9409	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8857	HGNC:8857	peroxisomal biogenesis factor 16	The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200759	NANDO:1200759	PEX16	http://identifiers.org/ncbigene/9409	9409	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8857	HGNC:8857	peroxisomal biogenesis factor 16	The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200760	NANDO:1200760	PEX16	http://identifiers.org/ncbigene/9409	9409	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8857	HGNC:8857	peroxisomal biogenesis factor 16	The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200575	NANDO:2200575	PEX16	http://identifiers.org/ncbigene/9409	9409	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8857	HGNC:8857	peroxisomal biogenesis factor 16	The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200758	NANDO:1200758	PEX19	http://identifiers.org/ncbigene/5824	5824	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9713	HGNC:9713	peroxisomal biogenesis factor 19	This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_1200759	NANDO:1200759	PEX19	http://identifiers.org/ncbigene/5824	5824	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9713	HGNC:9713	peroxisomal biogenesis factor 19	This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_1200760	NANDO:1200760	PEX19	http://identifiers.org/ncbigene/5824	5824	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9713	HGNC:9713	peroxisomal biogenesis factor 19	This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_2200575	NANDO:2200575	PEX19	http://identifiers.org/ncbigene/5824	5824	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9713	HGNC:9713	peroxisomal biogenesis factor 19	This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_1200758	NANDO:1200758	PEX2	http://identifiers.org/ncbigene/5828	5828	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9717	HGNC:9717	peroxisomal biogenesis factor 2	This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200759	NANDO:1200759	PEX2	http://identifiers.org/ncbigene/5828	5828	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9717	HGNC:9717	peroxisomal biogenesis factor 2	This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200760	NANDO:1200760	PEX2	http://identifiers.org/ncbigene/5828	5828	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9717	HGNC:9717	peroxisomal biogenesis factor 2	This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200575	NANDO:2200575	PEX2	http://identifiers.org/ncbigene/5828	5828	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9717	HGNC:9717	peroxisomal biogenesis factor 2	This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200758	NANDO:1200758	PEX26	http://identifiers.org/ncbigene/55670	55670	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22965	HGNC:22965	peroxisomal biogenesis factor 26	This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010]
http://nanbyodata.jp/ontology/NANDO_1200759	NANDO:1200759	PEX26	http://identifiers.org/ncbigene/55670	55670	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22965	HGNC:22965	peroxisomal biogenesis factor 26	This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010]
http://nanbyodata.jp/ontology/NANDO_1200760	NANDO:1200760	PEX26	http://identifiers.org/ncbigene/55670	55670	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22965	HGNC:22965	peroxisomal biogenesis factor 26	This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010]
http://nanbyodata.jp/ontology/NANDO_2200575	NANDO:2200575	PEX26	http://identifiers.org/ncbigene/55670	55670	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22965	HGNC:22965	peroxisomal biogenesis factor 26	This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010]
http://nanbyodata.jp/ontology/NANDO_1200758	NANDO:1200758	PEX3	http://identifiers.org/ncbigene/8504	8504	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8858	HGNC:8858	peroxisomal biogenesis factor 3	The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200759	NANDO:1200759	PEX3	http://identifiers.org/ncbigene/8504	8504	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8858	HGNC:8858	peroxisomal biogenesis factor 3	The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200760	NANDO:1200760	PEX3	http://identifiers.org/ncbigene/8504	8504	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8858	HGNC:8858	peroxisomal biogenesis factor 3	The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200575	NANDO:2200575	PEX3	http://identifiers.org/ncbigene/8504	8504	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8858	HGNC:8858	peroxisomal biogenesis factor 3	The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200758	NANDO:1200758	PEX5	http://identifiers.org/ncbigene/5830	5830	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9719	HGNC:9719	peroxisomal biogenesis factor 5	The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200759	NANDO:1200759	PEX5	http://identifiers.org/ncbigene/5830	5830	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9719	HGNC:9719	peroxisomal biogenesis factor 5	The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200760	NANDO:1200760	PEX5	http://identifiers.org/ncbigene/5830	5830	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9719	HGNC:9719	peroxisomal biogenesis factor 5	The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200575	NANDO:2200575	PEX5	http://identifiers.org/ncbigene/5830	5830	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9719	HGNC:9719	peroxisomal biogenesis factor 5	The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200758	NANDO:1200758	PEX6	http://identifiers.org/ncbigene/5190	5190	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8859	HGNC:8859	peroxisomal biogenesis factor 6	This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200759	NANDO:1200759	PEX6	http://identifiers.org/ncbigene/5190	5190	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8859	HGNC:8859	peroxisomal biogenesis factor 6	This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200760	NANDO:1200760	PEX6	http://identifiers.org/ncbigene/5190	5190	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8859	HGNC:8859	peroxisomal biogenesis factor 6	This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_2200575	NANDO:2200575	PEX6	http://identifiers.org/ncbigene/5190	5190	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8859	HGNC:8859	peroxisomal biogenesis factor 6	This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200758	NANDO:1200758	PEX7	http://identifiers.org/ncbigene/5191	5191	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8860	HGNC:8860	peroxisomal biogenesis factor 7	This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200759	NANDO:1200759	PEX7	http://identifiers.org/ncbigene/5191	5191	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8860	HGNC:8860	peroxisomal biogenesis factor 7	This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200763	NANDO:1200763	PEX7	http://identifiers.org/ncbigene/5191	5191	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8860	HGNC:8860	peroxisomal biogenesis factor 7	This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200575	NANDO:2200575	PEX7	http://identifiers.org/ncbigene/5191	5191	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8860	HGNC:8860	peroxisomal biogenesis factor 7	This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200577	NANDO:2200577	PEX7	http://identifiers.org/ncbigene/5191	5191	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8860	HGNC:8860	peroxisomal biogenesis factor 7	This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200823	NANDO:1200823	PFKM	http://identifiers.org/ncbigene/5213	5213	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8877	HGNC:8877	phosphofructokinase, muscle	Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_1200829	NANDO:1200829	PFKM	http://identifiers.org/ncbigene/5213	5213	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8877	HGNC:8877	phosphofructokinase, muscle	Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_2200543	NANDO:2200543	PFKM	http://identifiers.org/ncbigene/5213	5213	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8877	HGNC:8877	phosphofructokinase, muscle	Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_1200823	NANDO:1200823	PGAM2	http://identifiers.org/ncbigene/5224	5224	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8889	HGNC:8889	phosphoglycerate mutase 2	Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase eficiency, also known as glycogen storage disease X. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200832	NANDO:1200832	PGAM2	http://identifiers.org/ncbigene/5224	5224	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8889	HGNC:8889	phosphoglycerate mutase 2	Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase eficiency, also known as glycogen storage disease X. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PGAP1	http://identifiers.org/ncbigene/80055	80055	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25712	HGNC:25712	post-GPI attachment to proteins inositol deacylase 1	The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this may be an important factor in the transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Defects in this gene are a cause an autosomal recessive form of cognitive impairment. [provided by RefSeq, Jul 2017]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PGAP1	http://identifiers.org/ncbigene/80055	80055	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25712	HGNC:25712	post-GPI attachment to proteins inositol deacylase 1	The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this may be an important factor in the transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Defects in this gene are a cause an autosomal recessive form of cognitive impairment. [provided by RefSeq, Jul 2017]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PGAP2	http://identifiers.org/ncbigene/27315	27315	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17893	HGNC:17893	post-GPI attachment to proteins 2	The protein encoded by this gene plays a role in the maturation of glycosylphosphatidylinositol (GPI) anchors on GPI-anchored proteins. Mutations in this gene are associated with an autosomal recessive syndrome characterized by hyperphosphatasia and intellectual disability. [provided by RefSeq, Jul 2017]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PGAP2	http://identifiers.org/ncbigene/27315	27315	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17893	HGNC:17893	post-GPI attachment to proteins 2	The protein encoded by this gene plays a role in the maturation of glycosylphosphatidylinositol (GPI) anchors on GPI-anchored proteins. Mutations in this gene are associated with an autosomal recessive syndrome characterized by hyperphosphatasia and intellectual disability. [provided by RefSeq, Jul 2017]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PGAP3	http://identifiers.org/ncbigene/93210	93210	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23719	HGNC:23719	post-GPI attachment to proteins phospholipase 3	This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from the sn-2 position of GPI. The remodeling of the constituent fatty acids on GPI is thought to be important for the proper association between GPI-anchored proteins and lipid rafts. The tethering of proteins to plasma membranes via posttranslational GPI-anchoring is thought to play a role in protein sorting and trafficking. Mutations in this gene cause an autosomal recessive form of neurologic hyperphosphatasia with cognitive disability (HPMRS4). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PGAP3	http://identifiers.org/ncbigene/93210	93210	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23719	HGNC:23719	post-GPI attachment to proteins phospholipase 3	This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from the sn-2 position of GPI. The remodeling of the constituent fatty acids on GPI is thought to be important for the proper association between GPI-anchored proteins and lipid rafts. The tethering of proteins to plasma membranes via posttranslational GPI-anchoring is thought to play a role in protein sorting and trafficking. Mutations in this gene cause an autosomal recessive form of neurologic hyperphosphatasia with cognitive disability (HPMRS4). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]
http://nanbyodata.jp/ontology/NANDO_1200823	NANDO:1200823	PGK1	http://identifiers.org/ncbigene/5230	5230	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8896	HGNC:8896	phosphoglycerate kinase 1	The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. Additionally, this protein is secreted by tumor cells where it participates in angiogenesis by functioning to reduce disulfide bonds in the serine protease, plasmin, which consequently leads to the release of the tumor blood vessel inhibitor angiostatin. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Deficiency of the enzyme is associated with a wide range of clinical phenotypes hemolytic anemia and neurological impairment. Pseudogenes of this gene have been defined on chromosomes 19, 21 and the X chromosome. [provided by RefSeq, Jan 2014]
http://nanbyodata.jp/ontology/NANDO_1200831	NANDO:1200831	PGK1	http://identifiers.org/ncbigene/5230	5230	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8896	HGNC:8896	phosphoglycerate kinase 1	The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. Additionally, this protein is secreted by tumor cells where it participates in angiogenesis by functioning to reduce disulfide bonds in the serine protease, plasmin, which consequently leads to the release of the tumor blood vessel inhibitor angiostatin. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Deficiency of the enzyme is associated with a wide range of clinical phenotypes hemolytic anemia and neurological impairment. Pseudogenes of this gene have been defined on chromosomes 19, 21 and the X chromosome. [provided by RefSeq, Jan 2014]
http://nanbyodata.jp/ontology/NANDO_1200823	NANDO:1200823	PGM1	http://identifiers.org/ncbigene/5236	5236	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8905	HGNC:8905	phosphoglucomutase 1	The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200836	NANDO:1200836	PGM1	http://identifiers.org/ncbigene/5236	5236	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8905	HGNC:8905	phosphoglucomutase 1	The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200403	NANDO:2200403	PHEX	http://identifiers.org/ncbigene/5251	5251	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8918	HGNC:8918	phosphate regulating endopeptidase homolog X-linked	The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
http://nanbyodata.jp/ontology/NANDO_1200670	NANDO:1200670	PHF6	http://identifiers.org/ncbigene/84295	84295	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18145	HGNC:18145	PHD finger protein 6	This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by cognitive disability, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_2200977	NANDO:2200977	PHF6	http://identifiers.org/ncbigene/84295	84295	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18145	HGNC:18145	PHD finger protein 6	This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by cognitive disability, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_1201020	NANDO:1201020	PHKA1	http://identifiers.org/ncbigene/5255	5255	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8925	HGNC:8925	phosphorylase kinase regulatory subunit alpha 1	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2200544	NANDO:2200544	PHKA1	http://identifiers.org/ncbigene/5255	5255	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8925	HGNC:8925	phosphorylase kinase regulatory subunit alpha 1	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2201167	NANDO:2201167	PHKA1	http://identifiers.org/ncbigene/5255	5255	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8925	HGNC:8925	phosphorylase kinase regulatory subunit alpha 1	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1200838	NANDO:1200838	PHKA2	http://identifiers.org/ncbigene/5256	5256	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8926	HGNC:8926	phosphorylase kinase regulatory subunit alpha 2	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1200847	NANDO:1200847	PHKA2	http://identifiers.org/ncbigene/5256	5256	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8926	HGNC:8926	phosphorylase kinase regulatory subunit alpha 2	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1201020	NANDO:1201020	PHKA2	http://identifiers.org/ncbigene/5256	5256	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8926	HGNC:8926	phosphorylase kinase regulatory subunit alpha 2	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2200544	NANDO:2200544	PHKA2	http://identifiers.org/ncbigene/5256	5256	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8926	HGNC:8926	phosphorylase kinase regulatory subunit alpha 2	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2201164	NANDO:2201164	PHKA2	http://identifiers.org/ncbigene/5256	5256	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8926	HGNC:8926	phosphorylase kinase regulatory subunit alpha 2	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1200823	NANDO:1200823	PHKB	http://identifiers.org/ncbigene/5257	5257	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8927	HGNC:8927	phosphorylase kinase regulatory subunit beta	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1200830	NANDO:1200830	PHKB	http://identifiers.org/ncbigene/5257	5257	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8927	HGNC:8927	phosphorylase kinase regulatory subunit beta	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1200838	NANDO:1200838	PHKB	http://identifiers.org/ncbigene/5257	5257	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8927	HGNC:8927	phosphorylase kinase regulatory subunit beta	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1200848	NANDO:1200848	PHKB	http://identifiers.org/ncbigene/5257	5257	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8927	HGNC:8927	phosphorylase kinase regulatory subunit beta	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1201020	NANDO:1201020	PHKB	http://identifiers.org/ncbigene/5257	5257	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8927	HGNC:8927	phosphorylase kinase regulatory subunit beta	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2200544	NANDO:2200544	PHKB	http://identifiers.org/ncbigene/5257	5257	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8927	HGNC:8927	phosphorylase kinase regulatory subunit beta	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2201165	NANDO:2201165	PHKB	http://identifiers.org/ncbigene/5257	5257	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8927	HGNC:8927	phosphorylase kinase regulatory subunit beta	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1200838	NANDO:1200838	PHKG2	http://identifiers.org/ncbigene/5261	5261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8931	HGNC:8931	phosphorylase kinase catalytic subunit gamma 2	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1200849	NANDO:1200849	PHKG2	http://identifiers.org/ncbigene/5261	5261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8931	HGNC:8931	phosphorylase kinase catalytic subunit gamma 2	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1201020	NANDO:1201020	PHKG2	http://identifiers.org/ncbigene/5261	5261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8931	HGNC:8931	phosphorylase kinase catalytic subunit gamma 2	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2200544	NANDO:2200544	PHKG2	http://identifiers.org/ncbigene/5261	5261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8931	HGNC:8931	phosphorylase kinase catalytic subunit gamma 2	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2201166	NANDO:2201166	PHKG2	http://identifiers.org/ncbigene/5261	5261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8931	HGNC:8931	phosphorylase kinase catalytic subunit gamma 2	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1200751	NANDO:1200751	PHOX2B	http://identifiers.org/ncbigene/8929	8929	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9143	HGNC:9143	paired like homeobox 2B	The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_1200753	NANDO:1200753	PHOX2B	http://identifiers.org/ncbigene/8929	8929	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9143	HGNC:9143	paired like homeobox 2B	The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2200198	NANDO:2200198	PHOX2B	http://identifiers.org/ncbigene/8929	8929	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9143	HGNC:9143	paired like homeobox 2B	The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_1200758	NANDO:1200758	PHYH	http://identifiers.org/ncbigene/5264	5264	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8940	HGNC:8940	phytanoyl-CoA 2-hydroxylase	This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200769	NANDO:1200769	PHYH	http://identifiers.org/ncbigene/5264	5264	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8940	HGNC:8940	phytanoyl-CoA 2-hydroxylase	This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200577	NANDO:2200577	PHYH	http://identifiers.org/ncbigene/5264	5264	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8940	HGNC:8940	phytanoyl-CoA 2-hydroxylase	This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	PIBF1	http://identifiers.org/ncbigene/10464	10464	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23352	HGNC:23352	progesterone immunomodulatory binding factor 1	This gene encodes a protein that is induced by the steroid hormone progesterone and plays a role in the maintenance of pregnancy. The encoded protein regulates multiple facets of the immune system to promote normal pregnancy including cytokine synthesis, natural killer (NK) cell activity, and arachidonic acid metabolism. Low serum levels of this protein have been associated with spontaneous pre-term labor in humans. This protein may promote the proliferation, migration and invasion of glioma. [provided by RefSeq, Mar 2017]
http://nanbyodata.jp/ontology/NANDO_2200031	NANDO:2200031	PICK1	http://identifiers.org/ncbigene/9463	9463	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9394	HGNC:9394	protein interacting with PRKCA 1	The protein encoded by this gene contains a PDZ domain, through which it interacts with protein kinase C, alpha (PRKCA). This protein may function as an adaptor that binds to and organizes the subcellular localization of a variety of membrane proteins. It has been shown to interact with multiple glutamate receptor subtypes, monoamine plasma membrane transporters, as well as non-voltage gated sodium channels, and may target PRKCA to these membrane proteins and thus regulate their distribution and function. This protein has also been found to act as an anchoring protein that specifically targets PRKCA to mitochondria in a ligand-specific manner. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200311	NANDO:1200311	PIGA	http://identifiers.org/ncbigene/5277	5277	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8957	HGNC:8957	phosphatidylinositol glycan anchor biosynthesis class A	This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterized. A related pseudogene is located on chromosome 12. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_1200594	NANDO:1200594	PIGA	http://identifiers.org/ncbigene/5277	5277	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8957	HGNC:8957	phosphatidylinositol glycan anchor biosynthesis class A	This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterized. A related pseudogene is located on chromosome 12. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PIGA	http://identifiers.org/ncbigene/5277	5277	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8957	HGNC:8957	phosphatidylinositol glycan anchor biosynthesis class A	This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterized. A related pseudogene is located on chromosome 12. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PIGA	http://identifiers.org/ncbigene/5277	5277	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8957	HGNC:8957	phosphatidylinositol glycan anchor biosynthesis class A	This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterized. A related pseudogene is located on chromosome 12. [provided by RefSeq, Jun 2010]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PIGB	http://identifiers.org/ncbigene/9488	9488	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8959	HGNC:8959	phosphatidylinositol glycan anchor biosynthesis class B	This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PIGB	http://identifiers.org/ncbigene/9488	9488	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8959	HGNC:8959	phosphatidylinositol glycan anchor biosynthesis class B	This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PIGC	http://identifiers.org/ncbigene/5279	5279	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8960	HGNC:8960	phosphatidylinositol glycan anchor biosynthesis class C	This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PIGC	http://identifiers.org/ncbigene/5279	5279	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8960	HGNC:8960	phosphatidylinositol glycan anchor biosynthesis class C	This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PIGF	http://identifiers.org/ncbigene/5281	5281	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8962	HGNC:8962	phosphatidylinositol glycan anchor biosynthesis class F	This gene encodes a protein involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor, a glycolipid containing three mannose molecules in its core backbone, is found on many blood cells where it serves to anchor proteins to the cell surface. The encoded protein and another GPI synthesis protein, PIGO, function in the transfer of ethanolaminephosphate to the third mannose in GPI. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PIGF	http://identifiers.org/ncbigene/5281	5281	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8962	HGNC:8962	phosphatidylinositol glycan anchor biosynthesis class F	This gene encodes a protein involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor, a glycolipid containing three mannose molecules in its core backbone, is found on many blood cells where it serves to anchor proteins to the cell surface. The encoded protein and another GPI synthesis protein, PIGO, function in the transfer of ethanolaminephosphate to the third mannose in GPI. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PIGG	http://identifiers.org/ncbigene/54872	54872	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25985	HGNC:25985	phosphatidylinositol glycan anchor biosynthesis class G	This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PIGG	http://identifiers.org/ncbigene/54872	54872	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25985	HGNC:25985	phosphatidylinositol glycan anchor biosynthesis class G	This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PIGH	http://identifiers.org/ncbigene/5283	5283	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8964	HGNC:8964	phosphatidylinositol glycan anchor biosynthesis class H	This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PIGH	http://identifiers.org/ncbigene/5283	5283	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8964	HGNC:8964	phosphatidylinositol glycan anchor biosynthesis class H	This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PIGK	http://identifiers.org/ncbigene/10026	10026	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8965	HGNC:8965	phosphatidylinositol glycan anchor biosynthesis class K	This gene encodes a member of the cysteine protease family C13 that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is a member of the multisubunit enzyme, GPI transamidase and is thought to be its enzymatic component. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PIGK	http://identifiers.org/ncbigene/10026	10026	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8965	HGNC:8965	phosphatidylinositol glycan anchor biosynthesis class K	This gene encodes a member of the cysteine protease family C13 that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is a member of the multisubunit enzyme, GPI transamidase and is thought to be its enzymatic component. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PIGL	http://identifiers.org/ncbigene/9487	9487	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8966	HGNC:8966	phosphatidylinositol glycan anchor biosynthesis class L	This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PIGL	http://identifiers.org/ncbigene/9487	9487	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8966	HGNC:8966	phosphatidylinositol glycan anchor biosynthesis class L	This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PIGM	http://identifiers.org/ncbigene/93183	93183	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18858	HGNC:18858	phosphatidylinositol glycan anchor biosynthesis class M	This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PIGM	http://identifiers.org/ncbigene/93183	93183	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18858	HGNC:18858	phosphatidylinositol glycan anchor biosynthesis class M	This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PIGN	http://identifiers.org/ncbigene/23556	23556	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8967	HGNC:8967	phosphatidylinositol glycan anchor biosynthesis class N	This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PIGN	http://identifiers.org/ncbigene/23556	23556	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8967	HGNC:8967	phosphatidylinositol glycan anchor biosynthesis class N	This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PIGO	http://identifiers.org/ncbigene/84720	84720	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23215	HGNC:23215	phosphatidylinositol glycan anchor biosynthesis class O	This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PIGO	http://identifiers.org/ncbigene/84720	84720	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23215	HGNC:23215	phosphatidylinositol glycan anchor biosynthesis class O	This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PIGP	http://identifiers.org/ncbigene/51227	51227	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3046	HGNC:3046	phosphatidylinositol glycan anchor biosynthesis class P	This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PIGP	http://identifiers.org/ncbigene/51227	51227	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3046	HGNC:3046	phosphatidylinositol glycan anchor biosynthesis class P	This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PIGQ	http://identifiers.org/ncbigene/9091	9091	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14135	HGNC:14135	phosphatidylinositol glycan anchor biosynthesis class Q	This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PIGQ	http://identifiers.org/ncbigene/9091	9091	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14135	HGNC:14135	phosphatidylinositol glycan anchor biosynthesis class Q	This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PIGS	http://identifiers.org/ncbigene/94005	94005	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14937	HGNC:14937	phosphatidylinositol glycan anchor biosynthesis class S	This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PIGS	http://identifiers.org/ncbigene/94005	94005	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14937	HGNC:14937	phosphatidylinositol glycan anchor biosynthesis class S	This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PIGT	http://identifiers.org/ncbigene/51604	51604	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14938	HGNC:14938	phosphatidylinositol glycan anchor biosynthesis class T	This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PIGT	http://identifiers.org/ncbigene/51604	51604	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14938	HGNC:14938	phosphatidylinositol glycan anchor biosynthesis class T	This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PIGU	http://identifiers.org/ncbigene/128869	128869	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15791	HGNC:15791	phosphatidylinositol glycan anchor biosynthesis class U	The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PIGU	http://identifiers.org/ncbigene/128869	128869	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15791	HGNC:15791	phosphatidylinositol glycan anchor biosynthesis class U	The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PIGV	http://identifiers.org/ncbigene/55650	55650	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26031	HGNC:26031	phosphatidylinositol glycan anchor biosynthesis class V	This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PIGV	http://identifiers.org/ncbigene/55650	55650	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26031	HGNC:26031	phosphatidylinositol glycan anchor biosynthesis class V	This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PIGW	http://identifiers.org/ncbigene/284098	284098	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23213	HGNC:23213	phosphatidylinositol glycan anchor biosynthesis class W	The protein encoded by this gene is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many cell surface proteins to the membrane. Defects in this gene are a cause of the age-dependent epileptic encephalopathy West syndrome as well as a syndrome exhibiting hyperphosphatasia and cognitive disability (HPMRS5). [provided by RefSeq, Jul 2017]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PIGW	http://identifiers.org/ncbigene/284098	284098	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23213	HGNC:23213	phosphatidylinositol glycan anchor biosynthesis class W	The protein encoded by this gene is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many cell surface proteins to the membrane. Defects in this gene are a cause of the age-dependent epileptic encephalopathy West syndrome as well as a syndrome exhibiting hyperphosphatasia and cognitive disability (HPMRS5). [provided by RefSeq, Jul 2017]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PIGX	http://identifiers.org/ncbigene/54965	54965	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26046	HGNC:26046	phosphatidylinositol glycan anchor biosynthesis class X	This gene encodes a type I transmembrane protein in the endoplasmic reticulum (ER). The protein is an essential component of glycosylphosphatidylinositol-mannosyltransferase I, which transfers the first of the four mannoses in the GPI-anchor precursors during GPI-anchor biosynthesis. Studies in rat indicate that the protein is translated from a non-AUG translation initiation site. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PIGX	http://identifiers.org/ncbigene/54965	54965	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26046	HGNC:26046	phosphatidylinositol glycan anchor biosynthesis class X	This gene encodes a type I transmembrane protein in the endoplasmic reticulum (ER). The protein is an essential component of glycosylphosphatidylinositol-mannosyltransferase I, which transfers the first of the four mannoses in the GPI-anchor precursors during GPI-anchor biosynthesis. Studies in rat indicate that the protein is translated from a non-AUG translation initiation site. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PIGY	http://identifiers.org/ncbigene/84992	84992	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28213	HGNC:28213	phosphatidylinositol glycan anchor biosynthesis class Y	The protein encoded by this gene is part of the GPI-N-acetylglucosaminyltransferase (GIP-GnT) complex which initiates the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is synthesized in the endoplasmic reticulum and serves as an anchor for many surface proteins. Proteins containing GPI anchors can have an important role in cell-cell interactions. The transcript for this gene is bicistronic. The downstream open reading frame encodes this GPI-GnT complex protein, while the upstream open reading frame encodes a protein with unknown function, as represented by GeneID:100996939. [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PIGY	http://identifiers.org/ncbigene/84992	84992	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28213	HGNC:28213	phosphatidylinositol glycan anchor biosynthesis class Y	The protein encoded by this gene is part of the GPI-N-acetylglucosaminyltransferase (GIP-GnT) complex which initiates the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is synthesized in the endoplasmic reticulum and serves as an anchor for many surface proteins. Proteins containing GPI anchors can have an important role in cell-cell interactions. The transcript for this gene is bicistronic. The downstream open reading frame encodes this GPI-GnT complex protein, while the upstream open reading frame encodes a protein with unknown function, as represented by GeneID:100996939. [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_1200983	NANDO:1200983	PIGZ	http://identifiers.org/ncbigene/80235	80235	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30596	HGNC:30596	phosphatidylinositol glycan anchor biosynthesis class Z	The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endoplasmic reticulum, and is involved in GPI anchor biosynthesis. As shown for the yeast homolog, which is a member of a family of dolichol-phosphate-mannose (Dol-P-Man)-dependent mannosyltransferases, this protein can also add a side-branching fourth mannose to GPI precursors during the assembly of GPI anchors. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200841	NANDO:2200841	PIGZ	http://identifiers.org/ncbigene/80235	80235	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30596	HGNC:30596	phosphatidylinositol glycan anchor biosynthesis class Z	The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endoplasmic reticulum, and is involved in GPI anchor biosynthesis. As shown for the yeast homolog, which is a member of a family of dolichol-phosphate-mannose (Dol-P-Man)-dependent mannosyltransferases, this protein can also add a side-branching fourth mannose to GPI precursors during the assembly of GPI anchors. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200563	NANDO:1200563	PIK3CA	http://identifiers.org/ncbigene/5290	5290	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8975	HGNC:8975	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]
http://nanbyodata.jp/ontology/NANDO_2200031	NANDO:2200031	PIK3CA	http://identifiers.org/ncbigene/5290	5290	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8975	HGNC:8975	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]
http://nanbyodata.jp/ontology/NANDO_2200823	NANDO:2200823	PIK3CA	http://identifiers.org/ncbigene/5290	5290	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8975	HGNC:8975	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]
http://nanbyodata.jp/ontology/NANDO_2201394	NANDO:2201394	PIK3CA	http://identifiers.org/ncbigene/5290	5290	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8975	HGNC:8975	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]
http://nanbyodata.jp/ontology/NANDO_2201498	NANDO:2201498	PIK3CA	http://identifiers.org/ncbigene/5290	5290	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8975	HGNC:8975	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]
http://nanbyodata.jp/ontology/NANDO_2200031	NANDO:2200031	PIK3R2	http://identifiers.org/ncbigene/5296	5296	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8980	HGNC:8980	phosphoinositide-3-kinase regulatory subunit 2	Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Three transcript variants, one protein coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Apr 2019]
http://nanbyodata.jp/ontology/NANDO_2200823	NANDO:2200823	PIK3R2	http://identifiers.org/ncbigene/5296	5296	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8980	HGNC:8980	phosphoinositide-3-kinase regulatory subunit 2	Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Three transcript variants, one protein coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Apr 2019]
http://nanbyodata.jp/ontology/NANDO_1201000	NANDO:1201000	PITX2	http://identifiers.org/ncbigene/5308	5308	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9005	HGNC:9005	paired like homeodomain 2	This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200367	NANDO:1200367	PKD1	http://identifiers.org/ncbigene/5310	5310	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9008	HGNC:9008	polycystin 1, transient receptor potential channel interacting	This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200368	NANDO:1200368	PKD1	http://identifiers.org/ncbigene/5310	5310	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9008	HGNC:9008	polycystin 1, transient receptor potential channel interacting	This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200152	NANDO:2200152	PKD1	http://identifiers.org/ncbigene/5310	5310	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9008	HGNC:9008	polycystin 1, transient receptor potential channel interacting	This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200153	NANDO:2200153	PKD1	http://identifiers.org/ncbigene/5310	5310	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9008	HGNC:9008	polycystin 1, transient receptor potential channel interacting	This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200934	NANDO:2200934	PKD1	http://identifiers.org/ncbigene/5310	5310	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9008	HGNC:9008	polycystin 1, transient receptor potential channel interacting	This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200367	NANDO:1200367	PKD2	http://identifiers.org/ncbigene/5311	5311	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9009	HGNC:9009	polycystin 2, transient receptor potential cation channel	This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_1200368	NANDO:1200368	PKD2	http://identifiers.org/ncbigene/5311	5311	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9009	HGNC:9009	polycystin 2, transient receptor potential cation channel	This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2200152	NANDO:2200152	PKD2	http://identifiers.org/ncbigene/5311	5311	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9009	HGNC:9009	polycystin 2, transient receptor potential cation channel	This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2200153	NANDO:2200153	PKD2	http://identifiers.org/ncbigene/5311	5311	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9009	HGNC:9009	polycystin 2, transient receptor potential cation channel	This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2200934	NANDO:2200934	PKD2	http://identifiers.org/ncbigene/5311	5311	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9009	HGNC:9009	polycystin 2, transient receptor potential cation channel	This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_1200367	NANDO:1200367	PKHD1	http://identifiers.org/ncbigene/5314	5314	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9016	HGNC:9016	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200369	NANDO:1200369	PKHD1	http://identifiers.org/ncbigene/5314	5314	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9016	HGNC:9016	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200152	NANDO:2200152	PKHD1	http://identifiers.org/ncbigene/5314	5314	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9016	HGNC:9016	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200154	NANDO:2200154	PKHD1	http://identifiers.org/ncbigene/5314	5314	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9016	HGNC:9016	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200934	NANDO:2200934	PKHD1	http://identifiers.org/ncbigene/5314	5314	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9016	HGNC:9016	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200628	NANDO:2200628	PKLR	http://identifiers.org/ncbigene/5313	5313	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9020	HGNC:9020	pyruvate kinase L/R	The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200230	NANDO:2200230	PKP2	http://identifiers.org/ncbigene/5318	5318	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9024	HGNC:9024	plakophilin 2	This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200537	NANDO:1200537	PLA2G6	http://identifiers.org/ncbigene/8398	8398	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9039	HGNC:9039	phospholipase A2 group VI	The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010]
http://nanbyodata.jp/ontology/NANDO_1200542	NANDO:1200542	PLA2G6	http://identifiers.org/ncbigene/8398	8398	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9039	HGNC:9039	phospholipase A2 group VI	The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010]
http://nanbyodata.jp/ontology/NANDO_2200887	NANDO:2200887	PLA2G6	http://identifiers.org/ncbigene/8398	8398	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9039	HGNC:9039	phospholipase A2 group VI	The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010]
http://nanbyodata.jp/ontology/NANDO_1200595	NANDO:1200595	PLCB1	http://identifiers.org/ncbigene/23236	23236	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15917	HGNC:15917	phospholipase C beta 1	The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201408	NANDO:2201408	PLCB1	http://identifiers.org/ncbigene/23236	23236	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15917	HGNC:15917	phospholipase C beta 1	The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200110	NANDO:2200110	PLCE1	http://identifiers.org/ncbigene/51196	51196	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17175	HGNC:17175	phospholipase C epsilon 1	This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2200111	NANDO:2200111	PLCE1	http://identifiers.org/ncbigene/51196	51196	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17175	HGNC:17175	phospholipase C epsilon 1	This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2200440	NANDO:2200440	PLCG2	http://identifiers.org/ncbigene/5336	5336	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9066	HGNC:9066	phospholipase C gamma 2	The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]
http://nanbyodata.jp/ontology/NANDO_2200442	NANDO:2200442	PLCG2	http://identifiers.org/ncbigene/5336	5336	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9066	HGNC:9066	phospholipase C gamma 2	The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]
http://nanbyodata.jp/ontology/NANDO_2200451	NANDO:2200451	PLCG2	http://identifiers.org/ncbigene/5336	5336	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9066	HGNC:9066	phospholipase C gamma 2	The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]
http://nanbyodata.jp/ontology/NANDO_2200455	NANDO:2200455	PLCG2	http://identifiers.org/ncbigene/5336	5336	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9066	HGNC:9066	phospholipase C gamma 2	The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]
http://nanbyodata.jp/ontology/NANDO_1200021	NANDO:1200021	PLEC	http://identifiers.org/ncbigene/5339	5339	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9069	HGNC:9069	plectin	"Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding platforms for the assembly, positioning, and regulation of signaling complexes (reviewed in PMID: 9701547, 11854008, and 17499243). Plectin is expressed as several protein isoforms in a wide range of cell types and tissues from a single gene located on chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse and rat) and the gene product had been referred to as ""hemidesmosomal protein 1"" or ""plectin 1, intermediate filament binding 500kDa"". These names were superseded by plectin. The plectin gene locus in mouse on chromosome 15 has been analyzed in detail (PMID: 10556294, 14559777), revealing a genomic exon-intron organization with well over 40 exons spanning over 62 kb and an unusual 5' transcript complexity of plectin isoforms. Eleven exons (1-1j) have been identified that alternatively splice directly into a common exon 2 which is the first exon to encode plectin's highly conserved actin binding domain (ABD). Three additional exons (-1, 0a, and 0) splice into an alternative first coding exon (1c), and two additional exons (2alpha and 3alpha) are optionally spliced within the exons encoding the acting binding domain (exons 2-8). Analysis of the human locus has identified eight of the eleven alternative 5' exons found in mouse and rat (PMID: 14672974); exons 1i, 1j and 1h have not been confirmed in human. Furthermore, isoforms lacking the central rod domain encoded by exon 31 have been detected in mouse (PMID:10556294), rat (PMID: 9177781), and human (PMID: 11441066, 10780662, 20052759). The short alternative amino-terminal sequences encoded by the different first exons direct the targeting of the various isoforms to distinct subcellular locations (PMID: 14559777). As the expression of specific plectin isoforms was found to be dependent on cell type (tissue) and stage of development (PMID: 10556294, 12542521, 17389230) it appears that each cell type (tissue) contains a unique set (proportion and composition) of plectin isoforms, as if custom-made for specific requirements of the particular cells. Concordantly, individual isoforms were found to carry out distinct and specific functions (PMID: 14559777, 12542521, 18541706). In 1996, a number of groups reported that patients suffering from epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687, 8696340). Two other subtypes of plectin-related EBS have been described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of plectin-related diseases see PMID: 15810881, 19945614. Mutations in the plectin gene related to human diseases should be named based on the position in NM_000445 (variant 1, isoform 1c), unless the mutation is located within one of the other alternative first exons, in which case the position in the respective Reference Sequence should be used. [provided by RefSeq, Aug 2011]"
http://nanbyodata.jp/ontology/NANDO_1200032	NANDO:1200032	PLEC	http://identifiers.org/ncbigene/5339	5339	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9069	HGNC:9069	plectin	"Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding platforms for the assembly, positioning, and regulation of signaling complexes (reviewed in PMID: 9701547, 11854008, and 17499243). Plectin is expressed as several protein isoforms in a wide range of cell types and tissues from a single gene located on chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse and rat) and the gene product had been referred to as ""hemidesmosomal protein 1"" or ""plectin 1, intermediate filament binding 500kDa"". These names were superseded by plectin. The plectin gene locus in mouse on chromosome 15 has been analyzed in detail (PMID: 10556294, 14559777), revealing a genomic exon-intron organization with well over 40 exons spanning over 62 kb and an unusual 5' transcript complexity of plectin isoforms. Eleven exons (1-1j) have been identified that alternatively splice directly into a common exon 2 which is the first exon to encode plectin's highly conserved actin binding domain (ABD). Three additional exons (-1, 0a, and 0) splice into an alternative first coding exon (1c), and two additional exons (2alpha and 3alpha) are optionally spliced within the exons encoding the acting binding domain (exons 2-8). Analysis of the human locus has identified eight of the eleven alternative 5' exons found in mouse and rat (PMID: 14672974); exons 1i, 1j and 1h have not been confirmed in human. Furthermore, isoforms lacking the central rod domain encoded by exon 31 have been detected in mouse (PMID:10556294), rat (PMID: 9177781), and human (PMID: 11441066, 10780662, 20052759). The short alternative amino-terminal sequences encoded by the different first exons direct the targeting of the various isoforms to distinct subcellular locations (PMID: 14559777). As the expression of specific plectin isoforms was found to be dependent on cell type (tissue) and stage of development (PMID: 10556294, 12542521, 17389230) it appears that each cell type (tissue) contains a unique set (proportion and composition) of plectin isoforms, as if custom-made for specific requirements of the particular cells. Concordantly, individual isoforms were found to carry out distinct and specific functions (PMID: 14559777, 12542521, 18541706). In 1996, a number of groups reported that patients suffering from epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687, 8696340). Two other subtypes of plectin-related EBS have been described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of plectin-related diseases see PMID: 15810881, 19945614. Mutations in the plectin gene related to human diseases should be named based on the position in NM_000445 (variant 1, isoform 1c), unless the mutation is located within one of the other alternative first exons, in which case the position in the respective Reference Sequence should be used. [provided by RefSeq, Aug 2011]"
http://nanbyodata.jp/ontology/NANDO_1200234	NANDO:1200234	PLEC	http://identifiers.org/ncbigene/5339	5339	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9069	HGNC:9069	plectin	"Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding platforms for the assembly, positioning, and regulation of signaling complexes (reviewed in PMID: 9701547, 11854008, and 17499243). Plectin is expressed as several protein isoforms in a wide range of cell types and tissues from a single gene located on chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse and rat) and the gene product had been referred to as ""hemidesmosomal protein 1"" or ""plectin 1, intermediate filament binding 500kDa"". These names were superseded by plectin. The plectin gene locus in mouse on chromosome 15 has been analyzed in detail (PMID: 10556294, 14559777), revealing a genomic exon-intron organization with well over 40 exons spanning over 62 kb and an unusual 5' transcript complexity of plectin isoforms. Eleven exons (1-1j) have been identified that alternatively splice directly into a common exon 2 which is the first exon to encode plectin's highly conserved actin binding domain (ABD). Three additional exons (-1, 0a, and 0) splice into an alternative first coding exon (1c), and two additional exons (2alpha and 3alpha) are optionally spliced within the exons encoding the acting binding domain (exons 2-8). Analysis of the human locus has identified eight of the eleven alternative 5' exons found in mouse and rat (PMID: 14672974); exons 1i, 1j and 1h have not been confirmed in human. Furthermore, isoforms lacking the central rod domain encoded by exon 31 have been detected in mouse (PMID:10556294), rat (PMID: 9177781), and human (PMID: 11441066, 10780662, 20052759). The short alternative amino-terminal sequences encoded by the different first exons direct the targeting of the various isoforms to distinct subcellular locations (PMID: 14559777). As the expression of specific plectin isoforms was found to be dependent on cell type (tissue) and stage of development (PMID: 10556294, 12542521, 17389230) it appears that each cell type (tissue) contains a unique set (proportion and composition) of plectin isoforms, as if custom-made for specific requirements of the particular cells. Concordantly, individual isoforms were found to carry out distinct and specific functions (PMID: 14559777, 12542521, 18541706). In 1996, a number of groups reported that patients suffering from epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687, 8696340). Two other subtypes of plectin-related EBS have been described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of plectin-related diseases see PMID: 15810881, 19945614. Mutations in the plectin gene related to human diseases should be named based on the position in NM_000445 (variant 1, isoform 1c), unless the mutation is located within one of the other alternative first exons, in which case the position in the respective Reference Sequence should be used. [provided by RefSeq, Aug 2011]"
http://nanbyodata.jp/ontology/NANDO_1200237	NANDO:1200237	PLEC	http://identifiers.org/ncbigene/5339	5339	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9069	HGNC:9069	plectin	"Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding platforms for the assembly, positioning, and regulation of signaling complexes (reviewed in PMID: 9701547, 11854008, and 17499243). Plectin is expressed as several protein isoforms in a wide range of cell types and tissues from a single gene located on chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse and rat) and the gene product had been referred to as ""hemidesmosomal protein 1"" or ""plectin 1, intermediate filament binding 500kDa"". These names were superseded by plectin. The plectin gene locus in mouse on chromosome 15 has been analyzed in detail (PMID: 10556294, 14559777), revealing a genomic exon-intron organization with well over 40 exons spanning over 62 kb and an unusual 5' transcript complexity of plectin isoforms. Eleven exons (1-1j) have been identified that alternatively splice directly into a common exon 2 which is the first exon to encode plectin's highly conserved actin binding domain (ABD). Three additional exons (-1, 0a, and 0) splice into an alternative first coding exon (1c), and two additional exons (2alpha and 3alpha) are optionally spliced within the exons encoding the acting binding domain (exons 2-8). Analysis of the human locus has identified eight of the eleven alternative 5' exons found in mouse and rat (PMID: 14672974); exons 1i, 1j and 1h have not been confirmed in human. Furthermore, isoforms lacking the central rod domain encoded by exon 31 have been detected in mouse (PMID:10556294), rat (PMID: 9177781), and human (PMID: 11441066, 10780662, 20052759). The short alternative amino-terminal sequences encoded by the different first exons direct the targeting of the various isoforms to distinct subcellular locations (PMID: 14559777). As the expression of specific plectin isoforms was found to be dependent on cell type (tissue) and stage of development (PMID: 10556294, 12542521, 17389230) it appears that each cell type (tissue) contains a unique set (proportion and composition) of plectin isoforms, as if custom-made for specific requirements of the particular cells. Concordantly, individual isoforms were found to carry out distinct and specific functions (PMID: 14559777, 12542521, 18541706). In 1996, a number of groups reported that patients suffering from epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687, 8696340). Two other subtypes of plectin-related EBS have been described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of plectin-related diseases see PMID: 15810881, 19945614. Mutations in the plectin gene related to human diseases should be named based on the position in NM_000445 (variant 1, isoform 1c), unless the mutation is located within one of the other alternative first exons, in which case the position in the respective Reference Sequence should be used. [provided by RefSeq, Aug 2011]"
http://nanbyodata.jp/ontology/NANDO_2201000	NANDO:2201000	PLEC	http://identifiers.org/ncbigene/5339	5339	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9069	HGNC:9069	plectin	"Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding platforms for the assembly, positioning, and regulation of signaling complexes (reviewed in PMID: 9701547, 11854008, and 17499243). Plectin is expressed as several protein isoforms in a wide range of cell types and tissues from a single gene located on chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse and rat) and the gene product had been referred to as ""hemidesmosomal protein 1"" or ""plectin 1, intermediate filament binding 500kDa"". These names were superseded by plectin. The plectin gene locus in mouse on chromosome 15 has been analyzed in detail (PMID: 10556294, 14559777), revealing a genomic exon-intron organization with well over 40 exons spanning over 62 kb and an unusual 5' transcript complexity of plectin isoforms. Eleven exons (1-1j) have been identified that alternatively splice directly into a common exon 2 which is the first exon to encode plectin's highly conserved actin binding domain (ABD). Three additional exons (-1, 0a, and 0) splice into an alternative first coding exon (1c), and two additional exons (2alpha and 3alpha) are optionally spliced within the exons encoding the acting binding domain (exons 2-8). Analysis of the human locus has identified eight of the eleven alternative 5' exons found in mouse and rat (PMID: 14672974); exons 1i, 1j and 1h have not been confirmed in human. Furthermore, isoforms lacking the central rod domain encoded by exon 31 have been detected in mouse (PMID:10556294), rat (PMID: 9177781), and human (PMID: 11441066, 10780662, 20052759). The short alternative amino-terminal sequences encoded by the different first exons direct the targeting of the various isoforms to distinct subcellular locations (PMID: 14559777). As the expression of specific plectin isoforms was found to be dependent on cell type (tissue) and stage of development (PMID: 10556294, 12542521, 17389230) it appears that each cell type (tissue) contains a unique set (proportion and composition) of plectin isoforms, as if custom-made for specific requirements of the particular cells. Concordantly, individual isoforms were found to carry out distinct and specific functions (PMID: 14559777, 12542521, 18541706). In 1996, a number of groups reported that patients suffering from epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687, 8696340). Two other subtypes of plectin-related EBS have been described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of plectin-related diseases see PMID: 15810881, 19945614. Mutations in the plectin gene related to human diseases should be named based on the position in NM_000445 (variant 1, isoform 1c), unless the mutation is located within one of the other alternative first exons, in which case the position in the respective Reference Sequence should be used. [provided by RefSeq, Aug 2011]"
http://nanbyodata.jp/ontology/NANDO_2201341	NANDO:2201341	PLEC	http://identifiers.org/ncbigene/5339	5339	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9069	HGNC:9069	plectin	"Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding platforms for the assembly, positioning, and regulation of signaling complexes (reviewed in PMID: 9701547, 11854008, and 17499243). Plectin is expressed as several protein isoforms in a wide range of cell types and tissues from a single gene located on chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse and rat) and the gene product had been referred to as ""hemidesmosomal protein 1"" or ""plectin 1, intermediate filament binding 500kDa"". These names were superseded by plectin. The plectin gene locus in mouse on chromosome 15 has been analyzed in detail (PMID: 10556294, 14559777), revealing a genomic exon-intron organization with well over 40 exons spanning over 62 kb and an unusual 5' transcript complexity of plectin isoforms. Eleven exons (1-1j) have been identified that alternatively splice directly into a common exon 2 which is the first exon to encode plectin's highly conserved actin binding domain (ABD). Three additional exons (-1, 0a, and 0) splice into an alternative first coding exon (1c), and two additional exons (2alpha and 3alpha) are optionally spliced within the exons encoding the acting binding domain (exons 2-8). Analysis of the human locus has identified eight of the eleven alternative 5' exons found in mouse and rat (PMID: 14672974); exons 1i, 1j and 1h have not been confirmed in human. Furthermore, isoforms lacking the central rod domain encoded by exon 31 have been detected in mouse (PMID:10556294), rat (PMID: 9177781), and human (PMID: 11441066, 10780662, 20052759). The short alternative amino-terminal sequences encoded by the different first exons direct the targeting of the various isoforms to distinct subcellular locations (PMID: 14559777). As the expression of specific plectin isoforms was found to be dependent on cell type (tissue) and stage of development (PMID: 10556294, 12542521, 17389230) it appears that each cell type (tissue) contains a unique set (proportion and composition) of plectin isoforms, as if custom-made for specific requirements of the particular cells. Concordantly, individual isoforms were found to carry out distinct and specific functions (PMID: 14559777, 12542521, 18541706). In 1996, a number of groups reported that patients suffering from epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687, 8696340). Two other subtypes of plectin-related EBS have been described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of plectin-related diseases see PMID: 15810881, 19945614. Mutations in the plectin gene related to human diseases should be named based on the position in NM_000445 (variant 1, isoform 1c), unless the mutation is located within one of the other alternative first exons, in which case the position in the respective Reference Sequence should be used. [provided by RefSeq, Aug 2011]"
http://nanbyodata.jp/ontology/NANDO_2201376	NANDO:2201376	PLEC	http://identifiers.org/ncbigene/5339	5339	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9069	HGNC:9069	plectin	"Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding platforms for the assembly, positioning, and regulation of signaling complexes (reviewed in PMID: 9701547, 11854008, and 17499243). Plectin is expressed as several protein isoforms in a wide range of cell types and tissues from a single gene located on chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse and rat) and the gene product had been referred to as ""hemidesmosomal protein 1"" or ""plectin 1, intermediate filament binding 500kDa"". These names were superseded by plectin. The plectin gene locus in mouse on chromosome 15 has been analyzed in detail (PMID: 10556294, 14559777), revealing a genomic exon-intron organization with well over 40 exons spanning over 62 kb and an unusual 5' transcript complexity of plectin isoforms. Eleven exons (1-1j) have been identified that alternatively splice directly into a common exon 2 which is the first exon to encode plectin's highly conserved actin binding domain (ABD). Three additional exons (-1, 0a, and 0) splice into an alternative first coding exon (1c), and two additional exons (2alpha and 3alpha) are optionally spliced within the exons encoding the acting binding domain (exons 2-8). Analysis of the human locus has identified eight of the eleven alternative 5' exons found in mouse and rat (PMID: 14672974); exons 1i, 1j and 1h have not been confirmed in human. Furthermore, isoforms lacking the central rod domain encoded by exon 31 have been detected in mouse (PMID:10556294), rat (PMID: 9177781), and human (PMID: 11441066, 10780662, 20052759). The short alternative amino-terminal sequences encoded by the different first exons direct the targeting of the various isoforms to distinct subcellular locations (PMID: 14559777). As the expression of specific plectin isoforms was found to be dependent on cell type (tissue) and stage of development (PMID: 10556294, 12542521, 17389230) it appears that each cell type (tissue) contains a unique set (proportion and composition) of plectin isoforms, as if custom-made for specific requirements of the particular cells. Concordantly, individual isoforms were found to carry out distinct and specific functions (PMID: 14559777, 12542521, 18541706). In 1996, a number of groups reported that patients suffering from epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687, 8696340). Two other subtypes of plectin-related EBS have been described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of plectin-related diseases see PMID: 15810881, 19945614. Mutations in the plectin gene related to human diseases should be named based on the position in NM_000445 (variant 1, isoform 1c), unless the mutation is located within one of the other alternative first exons, in which case the position in the respective Reference Sequence should be used. [provided by RefSeq, Aug 2011]"
http://nanbyodata.jp/ontology/NANDO_2201380	NANDO:2201380	PLEC	http://identifiers.org/ncbigene/5339	5339	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9069	HGNC:9069	plectin	"Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding platforms for the assembly, positioning, and regulation of signaling complexes (reviewed in PMID: 9701547, 11854008, and 17499243). Plectin is expressed as several protein isoforms in a wide range of cell types and tissues from a single gene located on chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse and rat) and the gene product had been referred to as ""hemidesmosomal protein 1"" or ""plectin 1, intermediate filament binding 500kDa"". These names were superseded by plectin. The plectin gene locus in mouse on chromosome 15 has been analyzed in detail (PMID: 10556294, 14559777), revealing a genomic exon-intron organization with well over 40 exons spanning over 62 kb and an unusual 5' transcript complexity of plectin isoforms. Eleven exons (1-1j) have been identified that alternatively splice directly into a common exon 2 which is the first exon to encode plectin's highly conserved actin binding domain (ABD). Three additional exons (-1, 0a, and 0) splice into an alternative first coding exon (1c), and two additional exons (2alpha and 3alpha) are optionally spliced within the exons encoding the acting binding domain (exons 2-8). Analysis of the human locus has identified eight of the eleven alternative 5' exons found in mouse and rat (PMID: 14672974); exons 1i, 1j and 1h have not been confirmed in human. Furthermore, isoforms lacking the central rod domain encoded by exon 31 have been detected in mouse (PMID:10556294), rat (PMID: 9177781), and human (PMID: 11441066, 10780662, 20052759). The short alternative amino-terminal sequences encoded by the different first exons direct the targeting of the various isoforms to distinct subcellular locations (PMID: 14559777). As the expression of specific plectin isoforms was found to be dependent on cell type (tissue) and stage of development (PMID: 10556294, 12542521, 17389230) it appears that each cell type (tissue) contains a unique set (proportion and composition) of plectin isoforms, as if custom-made for specific requirements of the particular cells. Concordantly, individual isoforms were found to carry out distinct and specific functions (PMID: 14559777, 12542521, 18541706). In 1996, a number of groups reported that patients suffering from epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687, 8696340). Two other subtypes of plectin-related EBS have been described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of plectin-related diseases see PMID: 15810881, 19945614. Mutations in the plectin gene related to human diseases should be named based on the position in NM_000445 (variant 1, isoform 1c), unless the mutation is located within one of the other alternative first exons, in which case the position in the respective Reference Sequence should be used. [provided by RefSeq, Aug 2011]"
http://nanbyodata.jp/ontology/NANDO_2200882	NANDO:2200882	PLEKHG4	http://identifiers.org/ncbigene/25894	25894	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24501	HGNC:24501	pleckstrin homology and RhoGEF domain containing G4	The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	PLEKHG5	http://identifiers.org/ncbigene/57449	57449	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29105	HGNC:29105	pleckstrin homology and RhoGEF domain containing G5	This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
http://nanbyodata.jp/ontology/NANDO_1200998	NANDO:1200998	PLEKHM1	http://identifiers.org/ncbigene/9842	9842	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29017	HGNC:29017	pleckstrin homology and RUN domain containing M1	The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2201013	NANDO:2201013	PLEKHM1	http://identifiers.org/ncbigene/9842	9842	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29017	HGNC:29017	pleckstrin homology and RUN domain containing M1	The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200858	NANDO:1200858	PLIN1	http://identifiers.org/ncbigene/5346	5346	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9076	HGNC:9076	perilipin 1	The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, when unphosphorylated, may play a role in the inhibition of lipolysis. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_1200861	NANDO:1200861	PLIN1	http://identifiers.org/ncbigene/5346	5346	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9076	HGNC:9076	perilipin 1	The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, when unphosphorylated, may play a role in the inhibition of lipolysis. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_2200404	NANDO:2200404	PLIN1	http://identifiers.org/ncbigene/5346	5346	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9076	HGNC:9076	perilipin 1	The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, when unphosphorylated, may play a role in the inhibition of lipolysis. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_2201443	NANDO:2201443	PLIN1	http://identifiers.org/ncbigene/5346	5346	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9076	HGNC:9076	perilipin 1	The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, when unphosphorylated, may play a role in the inhibition of lipolysis. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_2201446	NANDO:2201446	PLIN1	http://identifiers.org/ncbigene/5346	5346	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9076	HGNC:9076	perilipin 1	The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, when unphosphorylated, may play a role in the inhibition of lipolysis. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_1200645	NANDO:1200645	PLOD1	http://identifiers.org/ncbigene/5351	5351	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9081	HGNC:9081	procollagen-lysine,2-oxoglutarate 5-dioxygenase 1	Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VI have deficiencies in lysyl hydroxylase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200649	NANDO:1200649	PLOD1	http://identifiers.org/ncbigene/5351	5351	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9081	HGNC:9081	procollagen-lysine,2-oxoglutarate 5-dioxygenase 1	Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VI have deficiencies in lysyl hydroxylase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_2200607	NANDO:2200607	PLOD1	http://identifiers.org/ncbigene/5351	5351	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9081	HGNC:9081	procollagen-lysine,2-oxoglutarate 5-dioxygenase 1	Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VI have deficiencies in lysyl hydroxylase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200575	NANDO:1200575	PLP1	http://identifiers.org/ncbigene/5354	5354	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9086	HGNC:9086	proteolipid protein 1	This gene encodes a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations in this gene cause Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively splicing results in multiple transcript variants, including the DM20 splice variant. [provided by RefSeq, Feb 2015]
http://nanbyodata.jp/ontology/NANDO_1200576	NANDO:1200576	PLP1	http://identifiers.org/ncbigene/5354	5354	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9086	HGNC:9086	proteolipid protein 1	This gene encodes a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations in this gene cause Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively splicing results in multiple transcript variants, including the DM20 splice variant. [provided by RefSeq, Feb 2015]
http://nanbyodata.jp/ontology/NANDO_2200836	NANDO:2200836	PLP1	http://identifiers.org/ncbigene/5354	5354	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9086	HGNC:9086	proteolipid protein 1	This gene encodes a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations in this gene cause Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively splicing results in multiple transcript variants, including the DM20 splice variant. [provided by RefSeq, Feb 2015]
http://nanbyodata.jp/ontology/NANDO_2201409	NANDO:2201409	PLPBP	http://identifiers.org/ncbigene/11212	11212	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9457	HGNC:9457	pyridoxal phosphate binding protein	This gene encodes a pyridoxal 5'-phosphate binding protein involved in the homeostatic regulation of intracellular pyridoxal 5'-phosphate. This gene has a tumor suppressive effect on hepatocellular carcinoma and other solid tumors of epithelial origin. Naturally occurring mutations in this gene are associated with a pyridoxine-dependent epilepsy. [provided by RefSeq, Mar 2017]
http://nanbyodata.jp/ontology/NANDO_2201412	NANDO:2201412	PLPBP	http://identifiers.org/ncbigene/11212	11212	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9457	HGNC:9457	pyridoxal phosphate binding protein	This gene encodes a pyridoxal 5'-phosphate binding protein involved in the homeostatic regulation of intracellular pyridoxal 5'-phosphate. This gene has a tumor suppressive effect on hepatocellular carcinoma and other solid tumors of epithelial origin. Naturally occurring mutations in this gene are associated with a pyridoxine-dependent epilepsy. [provided by RefSeq, Mar 2017]
http://nanbyodata.jp/ontology/NANDO_2200004	NANDO:2200004	PML	http://identifiers.org/ncbigene/5371	5371	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9113	HGNC:9113	PML nuclear body scaffold	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200005	NANDO:2200005	PML	http://identifiers.org/ncbigene/5371	5371	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9113	HGNC:9113	PML nuclear body scaffold	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200006	NANDO:2200006	PML	http://identifiers.org/ncbigene/5371	5371	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9113	HGNC:9113	PML nuclear body scaffold	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200007	NANDO:2200007	PML	http://identifiers.org/ncbigene/5371	5371	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9113	HGNC:9113	PML nuclear body scaffold	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200008	NANDO:2200008	PML	http://identifiers.org/ncbigene/5371	5371	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9113	HGNC:9113	PML nuclear body scaffold	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200009	NANDO:2200009	PML	http://identifiers.org/ncbigene/5371	5371	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9113	HGNC:9113	PML nuclear body scaffold	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200010	NANDO:2200010	PML	http://identifiers.org/ncbigene/5371	5371	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9113	HGNC:9113	PML nuclear body scaffold	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200011	NANDO:2200011	PML	http://identifiers.org/ncbigene/5371	5371	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9113	HGNC:9113	PML nuclear body scaffold	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200019	NANDO:2200019	PML	http://identifiers.org/ncbigene/5371	5371	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9113	HGNC:9113	PML nuclear body scaffold	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	PMP2	http://identifiers.org/ncbigene/5375	5375	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9117	HGNC:9117	peripheral myelin protein 2	The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought to provide stability to the sheath. A defect in this gene was shown to be a cause of dominant demyelinating CMT neuropathy. [provided by RefSeq, Jan 2017]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	PMP22	http://identifiers.org/ncbigene/5376	5376	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9118	HGNC:9118	peripheral myelin protein 22	This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_2200855	NANDO:2200855	PMP22	http://identifiers.org/ncbigene/5376	5376	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9118	HGNC:9118	peripheral myelin protein 22	This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	PMS2	http://identifiers.org/ncbigene/5395	5395	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9122	HGNC:9122	PMS1 homolog 2, mismatch repair system component	The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. [provided by RefSeq, Apr 2016]
http://nanbyodata.jp/ontology/NANDO_1200335	NANDO:1200335	PMS2	http://identifiers.org/ncbigene/5395	5395	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9122	HGNC:9122	PMS1 homolog 2, mismatch repair system component	The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. [provided by RefSeq, Apr 2016]
http://nanbyodata.jp/ontology/NANDO_2200709	NANDO:2200709	PMS2	http://identifiers.org/ncbigene/5395	5395	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9122	HGNC:9122	PMS1 homolog 2, mismatch repair system component	The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. [provided by RefSeq, Apr 2016]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	PNKD	http://identifiers.org/ncbigene/25953	25953	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9153	HGNC:9153	PNKD metallo-beta-lactamase domain containing	This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200519	NANDO:1200519	PNKD	http://identifiers.org/ncbigene/25953	25953	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9153	HGNC:9153	PNKD metallo-beta-lactamase domain containing	This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	PNP	http://identifiers.org/ncbigene/4860	4860	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7892	HGNC:7892	purine nucleoside phosphorylase	This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200325	NANDO:1200325	PNP	http://identifiers.org/ncbigene/4860	4860	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7892	HGNC:7892	purine nucleoside phosphorylase	This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200698	NANDO:2200698	PNP	http://identifiers.org/ncbigene/4860	4860	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7892	HGNC:7892	purine nucleoside phosphorylase	This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200609	NANDO:1200609	PNPLA1	http://identifiers.org/ncbigene/285848	285848	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21246	HGNC:21246	patatin like phospholipase domain containing 1	The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
http://nanbyodata.jp/ontology/NANDO_2201409	NANDO:2201409	PNPO	http://identifiers.org/ncbigene/55163	55163	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30260	HGNC:30260	pyridoxamine 5'-phosphate oxidase	The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2201411	NANDO:2201411	PNPO	http://identifiers.org/ncbigene/55163	55163	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30260	HGNC:30260	pyridoxamine 5'-phosphate oxidase	The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200173	NANDO:1200173	POLG	http://identifiers.org/ncbigene/5428	5428	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9179	HGNC:9179	DNA polymerase gamma, catalytic subunit	Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200523	NANDO:2200523	POLG	http://identifiers.org/ncbigene/5428	5428	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9179	HGNC:9179	DNA polymerase gamma, catalytic subunit	Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200608	NANDO:1200608	POLH	http://identifiers.org/ncbigene/5429	5429	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9181	HGNC:9181	DNA polymerase eta	This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_2201002	NANDO:2201002	POLH	http://identifiers.org/ncbigene/5429	5429	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9181	HGNC:9181	DNA polymerase eta	This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_2201526	NANDO:2201526	POLR1B	http://identifiers.org/ncbigene/84172	84172	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20454	HGNC:20454	RNA polymerase I subunit B	Eukaryotic RNA polymerase I (pol I) is responsible for the transcription of ribosomal RNA (rRNA) genes and production of rRNA, the primary component of ribosomes. Pol I is a multisubunit enzyme composed of 6 to 14 polypeptides, depending on the species. Most of the mass of the pol I complex derives from the 2 largest subunits, Rpa1 and Rpa2 in yeast. POLR1B is homologous to Rpa2 (Seither and Grummt, 1996 [PubMed 8921381]).[supplied by OMIM, Mar 2008]
http://nanbyodata.jp/ontology/NANDO_2200836	NANDO:2200836	POLR1C	http://identifiers.org/ncbigene/9533	9533	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20194	HGNC:20194	RNA polymerase I and III subunit C	The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_2201526	NANDO:2201526	POLR1C	http://identifiers.org/ncbigene/9533	9533	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20194	HGNC:20194	RNA polymerase I and III subunit C	The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_2201526	NANDO:2201526	POLR1D	http://identifiers.org/ncbigene/51082	51082	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20422	HGNC:20422	RNA polymerase I and III subunit D	The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]
http://nanbyodata.jp/ontology/NANDO_1200575	NANDO:1200575	POLR3A	http://identifiers.org/ncbigene/11128	11128	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30074	HGNC:30074	RNA polymerase III subunit A	The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_1200583	NANDO:1200583	POLR3A	http://identifiers.org/ncbigene/11128	11128	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30074	HGNC:30074	RNA polymerase III subunit A	The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_1200585	NANDO:1200585	POLR3A	http://identifiers.org/ncbigene/11128	11128	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30074	HGNC:30074	RNA polymerase III subunit A	The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_2200836	NANDO:2200836	POLR3A	http://identifiers.org/ncbigene/11128	11128	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30074	HGNC:30074	RNA polymerase III subunit A	The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	POLR3B	http://identifiers.org/ncbigene/55703	55703	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30348	HGNC:30348	RNA polymerase III subunit B	This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_1200575	NANDO:1200575	POLR3B	http://identifiers.org/ncbigene/55703	55703	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30348	HGNC:30348	RNA polymerase III subunit B	This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_1200583	NANDO:1200583	POLR3B	http://identifiers.org/ncbigene/55703	55703	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30348	HGNC:30348	RNA polymerase III subunit B	This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_1200585	NANDO:1200585	POLR3B	http://identifiers.org/ncbigene/55703	55703	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30348	HGNC:30348	RNA polymerase III subunit B	This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_2200836	NANDO:2200836	POLR3B	http://identifiers.org/ncbigene/55703	55703	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30348	HGNC:30348	RNA polymerase III subunit B	This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_2200355	NANDO:2200355	POMC	http://identifiers.org/ncbigene/5443	5443	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9201	HGNC:9201	proopiomelanocortin	This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the preproprotein and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. The antimicrobial melanotropin alpha peptide exhibits antibacterial and antifungal activity. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_2200409	NANDO:2200409	POMC	http://identifiers.org/ncbigene/5443	5443	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9201	HGNC:9201	proopiomelanocortin	This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the preproprotein and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. The antimicrobial melanotropin alpha peptide exhibits antibacterial and antifungal activity. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	POMGNT1	http://identifiers.org/ncbigene/55624	55624	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19139	HGNC:19139	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	POMGNT1	http://identifiers.org/ncbigene/55624	55624	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19139	HGNC:19139	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	POMGNT2	http://identifiers.org/ncbigene/84892	84892	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25902	HGNC:25902	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	POMK	http://identifiers.org/ncbigene/84197	84197	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26267	HGNC:26267	protein O-mannose kinase	This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
http://nanbyodata.jp/ontology/NANDO_1200867	NANDO:1200867	POMP	http://identifiers.org/ncbigene/51371	51371	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20330	HGNC:20330	proteasome maturation protein	The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5' UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.[provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	POMT1	http://identifiers.org/ncbigene/10585	10585	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9202	HGNC:9202	protein O-mannosyltransferase 1	The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	POMT1	http://identifiers.org/ncbigene/10585	10585	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9202	HGNC:9202	protein O-mannosyltransferase 1	The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	POMT2	http://identifiers.org/ncbigene/29954	29954	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19743	HGNC:19743	protein O-mannosyltransferase 2	The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	POMT2	http://identifiers.org/ncbigene/29954	29954	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19743	HGNC:19743	protein O-mannosyltransferase 2	The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200396	NANDO:1200396	POR	http://identifiers.org/ncbigene/5447	5447	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9208	HGNC:9208	cytochrome p450 oxidoreductase	This gene encodes an endoplasmic reticulum membrane oxidoreductase that is essential for multiple metabolic processes, including reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs and xenobiotics. The encoded protein has a flavin adenine dinucleotide (FAD)-binding domain and a flavodoxin-like domain which bind two cofactors, FAD and FMN, that allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene cause a complex set of disorders, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome, that resemble those caused by defects in steroid metabolizing enzymes such as aromatase, 21-hydroxylase, and 17 alpha-hydroxylase. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_1200402	NANDO:1200402	POR	http://identifiers.org/ncbigene/5447	5447	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9208	HGNC:9208	cytochrome p450 oxidoreductase	This gene encodes an endoplasmic reticulum membrane oxidoreductase that is essential for multiple metabolic processes, including reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs and xenobiotics. The encoded protein has a flavin adenine dinucleotide (FAD)-binding domain and a flavodoxin-like domain which bind two cofactors, FAD and FMN, that allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene cause a complex set of disorders, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome, that resemble those caused by defects in steroid metabolizing enzymes such as aromatase, 21-hydroxylase, and 17 alpha-hydroxylase. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_1200669	NANDO:1200669	POR	http://identifiers.org/ncbigene/5447	5447	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9208	HGNC:9208	cytochrome p450 oxidoreductase	This gene encodes an endoplasmic reticulum membrane oxidoreductase that is essential for multiple metabolic processes, including reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs and xenobiotics. The encoded protein has a flavin adenine dinucleotide (FAD)-binding domain and a flavodoxin-like domain which bind two cofactors, FAD and FMN, that allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene cause a complex set of disorders, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome, that resemble those caused by defects in steroid metabolizing enzymes such as aromatase, 21-hydroxylase, and 17 alpha-hydroxylase. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_2200375	NANDO:2200375	POR	http://identifiers.org/ncbigene/5447	5447	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9208	HGNC:9208	cytochrome p450 oxidoreductase	This gene encodes an endoplasmic reticulum membrane oxidoreductase that is essential for multiple metabolic processes, including reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs and xenobiotics. The encoded protein has a flavin adenine dinucleotide (FAD)-binding domain and a flavodoxin-like domain which bind two cofactors, FAD and FMN, that allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene cause a complex set of disorders, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome, that resemble those caused by defects in steroid metabolizing enzymes such as aromatase, 21-hydroxylase, and 17 alpha-hydroxylase. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_2200380	NANDO:2200380	POR	http://identifiers.org/ncbigene/5447	5447	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9208	HGNC:9208	cytochrome p450 oxidoreductase	This gene encodes an endoplasmic reticulum membrane oxidoreductase that is essential for multiple metabolic processes, including reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs and xenobiotics. The encoded protein has a flavin adenine dinucleotide (FAD)-binding domain and a flavodoxin-like domain which bind two cofactors, FAD and FMN, that allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene cause a complex set of disorders, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome, that resemble those caused by defects in steroid metabolizing enzymes such as aromatase, 21-hydroxylase, and 17 alpha-hydroxylase. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_2200846	NANDO:2200846	POR	http://identifiers.org/ncbigene/5447	5447	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9208	HGNC:9208	cytochrome p450 oxidoreductase	This gene encodes an endoplasmic reticulum membrane oxidoreductase that is essential for multiple metabolic processes, including reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs and xenobiotics. The encoded protein has a flavin adenine dinucleotide (FAD)-binding domain and a flavodoxin-like domain which bind two cofactors, FAD and FMN, that allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene cause a complex set of disorders, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome, that resemble those caused by defects in steroid metabolizing enzymes such as aromatase, 21-hydroxylase, and 17 alpha-hydroxylase. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_2200975	NANDO:2200975	POR	http://identifiers.org/ncbigene/5447	5447	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9208	HGNC:9208	cytochrome p450 oxidoreductase	This gene encodes an endoplasmic reticulum membrane oxidoreductase that is essential for multiple metabolic processes, including reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs and xenobiotics. The encoded protein has a flavin adenine dinucleotide (FAD)-binding domain and a flavodoxin-like domain which bind two cofactors, FAD and FMN, that allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene cause a complex set of disorders, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome, that resemble those caused by defects in steroid metabolizing enzymes such as aromatase, 21-hydroxylase, and 17 alpha-hydroxylase. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_1200377	NANDO:1200377	POU1F1	http://identifiers.org/ncbigene/5449	5449	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9210	HGNC:9210	POU class 1 homeobox 1	This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200378	NANDO:1200378	POU1F1	http://identifiers.org/ncbigene/5449	5449	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9210	HGNC:9210	POU class 1 homeobox 1	This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200386	NANDO:1200386	POU1F1	http://identifiers.org/ncbigene/5449	5449	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9210	HGNC:9210	POU class 1 homeobox 1	This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200312	NANDO:2200312	POU1F1	http://identifiers.org/ncbigene/5449	5449	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9210	HGNC:9210	POU class 1 homeobox 1	This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200945	NANDO:1200945	POU4F3	http://identifiers.org/ncbigene/5459	5459	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9220	HGNC:9220	POU class 4 homeobox 3	This gene encodes a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. This protein is found in the retina and may play a role in determining or maintaining the identities of a small subset of visual system neurons. Defects in this gene are the cause of non-syndromic sensorineural deafness autosomal dominant type 15. [provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_1200858	NANDO:1200858	PPARG	http://identifiers.org/ncbigene/5468	5468	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9236	HGNC:9236	peroxisome proliferator activated receptor gamma	This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200861	NANDO:1200861	PPARG	http://identifiers.org/ncbigene/5468	5468	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9236	HGNC:9236	peroxisome proliferator activated receptor gamma	This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200404	NANDO:2200404	PPARG	http://identifiers.org/ncbigene/5468	5468	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9236	HGNC:9236	peroxisome proliferator activated receptor gamma	This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201443	NANDO:2201443	PPARG	http://identifiers.org/ncbigene/5468	5468	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9236	HGNC:9236	peroxisome proliferator activated receptor gamma	This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201446	NANDO:2201446	PPARG	http://identifiers.org/ncbigene/5468	5468	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9236	HGNC:9236	peroxisome proliferator activated receptor gamma	This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200873	NANDO:1200873	PPIB	http://identifiers.org/ncbigene/5479	5479	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9255	HGNC:9255	peptidylprolyl isomerase B	The protein encoded by this gene is a cyclosporine-binding protein and is mainly located within the endoplasmic reticulum. It is associated with the secretory pathway and released in biological fluids. This protein can bind to cells derived from T- and B-lymphocytes, and may regulate cyclosporine A-mediated immunosuppression. Variants have been identified in this protein that give rise to recessive forms of osteogenesis imperfecta. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2201011	NANDO:2201011	PPIB	http://identifiers.org/ncbigene/5479	5479	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9255	HGNC:9255	peptidylprolyl isomerase B	The protein encoded by this gene is a cyclosporine-binding protein and is mainly located within the endoplasmic reticulum. It is associated with the secretory pathway and released in biological fluids. This protein can bind to cells derived from T- and B-lymphocytes, and may regulate cyclosporine A-mediated immunosuppression. Variants have been identified in this protein that give rise to recessive forms of osteogenesis imperfecta. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200811	NANDO:1200811	PPOX	http://identifiers.org/ncbigene/5498	5498	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9280	HGNC:9280	protoporphyrinogen oxidase	This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200814	NANDO:1200814	PPOX	http://identifiers.org/ncbigene/5498	5498	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9280	HGNC:9280	protoporphyrinogen oxidase	This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200610	NANDO:2200610	PPOX	http://identifiers.org/ncbigene/5498	5498	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9280	HGNC:9280	protoporphyrinogen oxidase	This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200882	NANDO:2200882	PPP2R2B	http://identifiers.org/ncbigene/5521	5521	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9305	HGNC:9305	protein phosphatase 2 regulatory subunit Bbeta	The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 55-78 copies in cases of SCA12. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	PPT1	http://identifiers.org/ncbigene/5538	5538	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9325	HGNC:9325	palmitoyl-protein thioesterase 1	The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_1200150	NANDO:1200150	PPT1	http://identifiers.org/ncbigene/5538	5538	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9325	HGNC:9325	palmitoyl-protein thioesterase 1	The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_2200573	NANDO:2200573	PPT1	http://identifiers.org/ncbigene/5538	5538	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9325	HGNC:9325	palmitoyl-protein thioesterase 1	The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_1200645	NANDO:1200645	PRDM5	http://identifiers.org/ncbigene/11107	11107	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9349	HGNC:9349	PR/SET domain 5	The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201087	NANDO:1201087	PRDM5	http://identifiers.org/ncbigene/11107	11107	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9349	HGNC:9349	PR/SET domain 5	The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200021	NANDO:1200021	PREPL	http://identifiers.org/ncbigene/9581	9581	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30228	HGNC:30228	prolyl endopeptidase like	The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.[provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	PRF1	http://identifiers.org/ncbigene/5551	5551	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9360	HGNC:9360	perforin 1	This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs in the plasma membrane of target cells or in an endosomal membrane inside target cells is subject to debate. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), aplastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200032	NANDO:2200032	PRF1	http://identifiers.org/ncbigene/5551	5551	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9360	HGNC:9360	perforin 1	This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs in the plasma membrane of target cells or in an endosomal membrane inside target cells is subject to debate. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), aplastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	PRF1	http://identifiers.org/ncbigene/5551	5551	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9360	HGNC:9360	perforin 1	This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs in the plasma membrane of target cells or in an endosomal membrane inside target cells is subject to debate. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), aplastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200728	NANDO:2200728	PRF1	http://identifiers.org/ncbigene/5551	5551	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9360	HGNC:9360	perforin 1	This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs in the plasma membrane of target cells or in an endosomal membrane inside target cells is subject to debate. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), aplastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200756	NANDO:1200756	PRKAR1A	http://identifiers.org/ncbigene/5573	5573	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9388	HGNC:9388	protein kinase cAMP-dependent type I regulatory subunit alpha	cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	PRKCD	http://identifiers.org/ncbigene/5580	5580	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9399	HGNC:9399	protein kinase C delta	The protein encoded by this gene is a member of the protein kinase C family of serine- and threonine-specific protein kinases. The encoded protein is activated by diacylglycerol and is both a tumor suppressor and a positive regulator of cell cycle progression. Also, this protein can positively or negatively regulate apoptosis. Defects in this gene are a cause of autoimmune lymphoproliferative syndrome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200743	NANDO:2200743	PRKCD	http://identifiers.org/ncbigene/5580	5580	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9399	HGNC:9399	protein kinase C delta	The protein encoded by this gene is a member of the protein kinase C family of serine- and threonine-specific protein kinases. The encoded protein is activated by diacylglycerol and is both a tumor suppressor and a positive regulator of cell cycle progression. Also, this protein can positively or negatively regulate apoptosis. Defects in this gene are a cause of autoimmune lymphoproliferative syndrome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200037	NANDO:1200037	PRKCG	http://identifiers.org/ncbigene/5582	5582	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9402	HGNC:9402	protein kinase C gamma	Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_2200882	NANDO:2200882	PRKCG	http://identifiers.org/ncbigene/5582	5582	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9402	HGNC:9402	protein kinase C gamma	Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	PRKRA	http://identifiers.org/ncbigene/8575	8575	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9438	HGNC:9438	protein activator of interferon induced protein kinase EIF2AK2	This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_1200529	NANDO:1200529	PRKRA	http://identifiers.org/ncbigene/8575	8575	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9438	HGNC:9438	protein activator of interferon induced protein kinase EIF2AK2	This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_1200186	NANDO:1200186	PRNP	http://identifiers.org/ncbigene/5621	5621	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9449	HGNC:9449	prion protein	The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
http://nanbyodata.jp/ontology/NANDO_1200209	NANDO:1200209	PRNP	http://identifiers.org/ncbigene/5621	5621	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9449	HGNC:9449	prion protein	The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
http://nanbyodata.jp/ontology/NANDO_1200213	NANDO:1200213	PRNP	http://identifiers.org/ncbigene/5621	5621	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9449	HGNC:9449	prion protein	The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
http://nanbyodata.jp/ontology/NANDO_2200882	NANDO:2200882	PRNP	http://identifiers.org/ncbigene/5621	5621	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9449	HGNC:9449	prion protein	The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
http://nanbyodata.jp/ontology/NANDO_1200999	NANDO:1200999	PROC	http://identifiers.org/ncbigene/5624	5624	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9451	HGNC:9451	protein C, inactivator of coagulation factors Va and VIIIa	This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009]
http://nanbyodata.jp/ontology/NANDO_1201080	NANDO:1201080	PROC	http://identifiers.org/ncbigene/5624	5624	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9451	HGNC:9451	protein C, inactivator of coagulation factors Va and VIIIa	This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009]
http://nanbyodata.jp/ontology/NANDO_2200689	NANDO:2200689	PROC	http://identifiers.org/ncbigene/5624	5624	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9451	HGNC:9451	protein C, inactivator of coagulation factors Va and VIIIa	This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009]
http://nanbyodata.jp/ontology/NANDO_2200471	NANDO:2200471	PRODH	http://identifiers.org/ncbigene/5625	5625	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9453	HGNC:9453	proline dehydrogenase 1	This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_1200377	NANDO:1200377	PROP1	http://identifiers.org/ncbigene/5626	5626	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9455	HGNC:9455	PROP paired-like homeobox 1	This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011]
http://nanbyodata.jp/ontology/NANDO_1200378	NANDO:1200378	PROP1	http://identifiers.org/ncbigene/5626	5626	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9455	HGNC:9455	PROP paired-like homeobox 1	This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011]
http://nanbyodata.jp/ontology/NANDO_1200380	NANDO:1200380	PROP1	http://identifiers.org/ncbigene/5626	5626	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9455	HGNC:9455	PROP paired-like homeobox 1	This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011]
http://nanbyodata.jp/ontology/NANDO_1200386	NANDO:1200386	PROP1	http://identifiers.org/ncbigene/5626	5626	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9455	HGNC:9455	PROP paired-like homeobox 1	This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011]
http://nanbyodata.jp/ontology/NANDO_2200312	NANDO:2200312	PROP1	http://identifiers.org/ncbigene/5626	5626	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9455	HGNC:9455	PROP paired-like homeobox 1	This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011]
http://nanbyodata.jp/ontology/NANDO_1200999	NANDO:1200999	PROS1	http://identifiers.org/ncbigene/5627	5627	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9456	HGNC:9456	protein S	This gene encodes a vitamin K-dependent plasma protein that functions as a cofactor for the anticoagulant protease, activated protein C (APC) to inhibit blood coagulation. It is found in plasma in both a free, functionally active form and also in an inactive form complexed with C4b-binding protein. Mutations in this gene result in autosomal dominant hereditary thrombophilia. An inactive pseudogene of this locus is located at an adjacent region on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1201081	NANDO:1201081	PROS1	http://identifiers.org/ncbigene/5627	5627	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9456	HGNC:9456	protein S	This gene encodes a vitamin K-dependent plasma protein that functions as a cofactor for the anticoagulant protease, activated protein C (APC) to inhibit blood coagulation. It is found in plasma in both a free, functionally active form and also in an inactive form complexed with C4b-binding protein. Mutations in this gene result in autosomal dominant hereditary thrombophilia. An inactive pseudogene of this locus is located at an adjacent region on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_2200690	NANDO:2200690	PROS1	http://identifiers.org/ncbigene/5627	5627	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9456	HGNC:9456	protein S	This gene encodes a vitamin K-dependent plasma protein that functions as a cofactor for the anticoagulant protease, activated protein C (APC) to inhibit blood coagulation. It is found in plasma in both a free, functionally active form and also in an inactive form complexed with C4b-binding protein. Mutations in this gene result in autosomal dominant hereditary thrombophilia. An inactive pseudogene of this locus is located at an adjacent region on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200431	NANDO:1200431	PRPF31	http://identifiers.org/ncbigene/26121	26121	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15446	HGNC:15446	pre-mRNA processing factor 31	This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009]
http://nanbyodata.jp/ontology/NANDO_1200431	NANDO:1200431	PRPH2	http://identifiers.org/ncbigene/5961	5961	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9942	HGNC:9942	peripherin 2	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	PRPS1	http://identifiers.org/ncbigene/5631	5631	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9462	HGNC:9462	phosphoribosyl pyrophosphate synthetase 1	This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	PRRT2	http://identifiers.org/ncbigene/112476	112476	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30500	HGNC:30500	proline rich transmembrane protein 2	This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
http://nanbyodata.jp/ontology/NANDO_1200521	NANDO:1200521	PRRT2	http://identifiers.org/ncbigene/112476	112476	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30500	HGNC:30500	proline rich transmembrane protein 2	This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
http://nanbyodata.jp/ontology/NANDO_1200921	NANDO:1200921	PRSS1	http://identifiers.org/ncbigene/5644	5644	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9475	HGNC:9475	serine protease 1	This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. Mutations in this gene are associated with hereditary pancreatitis. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200942	NANDO:2200942	PRSS1	http://identifiers.org/ncbigene/5644	5644	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9475	HGNC:9475	serine protease 1	This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. Mutations in this gene are associated with hereditary pancreatitis. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	PRX	http://identifiers.org/ncbigene/57716	57716	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13797	HGNC:13797	periaxin	This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200855	NANDO:2200855	PRX	http://identifiers.org/ncbigene/57716	57716	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13797	HGNC:13797	periaxin	This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	PSAP	http://identifiers.org/ncbigene/5660	5660	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9498	HGNC:9498	prosaposin	This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_1200078	NANDO:1200078	PSAP	http://identifiers.org/ncbigene/5660	5660	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9498	HGNC:9498	prosaposin	This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_2200560	NANDO:2200560	PSAP	http://identifiers.org/ncbigene/5660	5660	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9498	HGNC:9498	prosaposin	This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_2200565	NANDO:2200565	PSAP	http://identifiers.org/ncbigene/5660	5660	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9498	HGNC:9498	prosaposin	This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_2201226	NANDO:2201226	PSAP	http://identifiers.org/ncbigene/5660	5660	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9498	HGNC:9498	prosaposin	This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_1200867	NANDO:1200867	PSMA3	http://identifiers.org/ncbigene/5684	5684	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9532	HGNC:9532	proteasome 20S subunit alpha 3	The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Two alternative transcripts encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200867	NANDO:1200867	PSMB4	http://identifiers.org/ncbigene/5692	5692	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9541	HGNC:9541	proteasome 20S subunit beta 4	The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200858	NANDO:1200858	PSMB8	http://identifiers.org/ncbigene/5696	5696	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9545	HGNC:9545	proteasome 20S subunit beta 8	The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same mature subunit. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200861	NANDO:1200861	PSMB8	http://identifiers.org/ncbigene/5696	5696	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9545	HGNC:9545	proteasome 20S subunit beta 8	The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same mature subunit. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200867	NANDO:1200867	PSMB8	http://identifiers.org/ncbigene/5696	5696	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9545	HGNC:9545	proteasome 20S subunit beta 8	The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same mature subunit. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200435	NANDO:2200435	PSMB8	http://identifiers.org/ncbigene/5696	5696	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9545	HGNC:9545	proteasome 20S subunit beta 8	The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same mature subunit. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200867	NANDO:1200867	PSMB9	http://identifiers.org/ncbigene/5698	5698	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9546	HGNC:9546	proteasome 20S subunit beta 9	The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 1 (proteasome beta 6 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200868	NANDO:1200868	PSTPIP1	http://identifiers.org/ncbigene/9051	9051	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9580	HGNC:9580	proline-serine-threonine phosphatase interacting protein 1	This gene encodes a cytoskeletal protein that is highly expressed in hemopoietic tissues. This protein functions via its interaction with several different proteins involved in cytoskeletal organization and inflammatory processes. It binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, downregulating CD2-triggered adhesion. It binds PEST-type protein tyrosine phosphatases (PTP) and directs them to c-Abl kinase to mediate c-Abl dephosphorylation, thereby, regulating c-Abl activity. It also interacts with pyrin, which is found in association with the cytoskeleton in myeloid/monocytic cells and modulates immunoregulatory functions. Mutations in this gene are associated with PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) syndrome. It is hypothesized that the disease-causing mutations compromise physiologic signaling necessary for the maintenance of a proper inflammatory response. [provided by RefSeq, Mar 2016]
http://nanbyodata.jp/ontology/NANDO_2200437	NANDO:2200437	PSTPIP1	http://identifiers.org/ncbigene/9051	9051	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9580	HGNC:9580	proline-serine-threonine phosphatase interacting protein 1	This gene encodes a cytoskeletal protein that is highly expressed in hemopoietic tissues. This protein functions via its interaction with several different proteins involved in cytoskeletal organization and inflammatory processes. It binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, downregulating CD2-triggered adhesion. It binds PEST-type protein tyrosine phosphatases (PTP) and directs them to c-Abl kinase to mediate c-Abl dephosphorylation, thereby, regulating c-Abl activity. It also interacts with pyrin, which is found in association with the cytoskeleton in myeloid/monocytic cells and modulates immunoregulatory functions. Mutations in this gene are associated with PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) syndrome. It is hypothesized that the disease-causing mutations compromise physiologic signaling necessary for the maintenance of a proper inflammatory response. [provided by RefSeq, Mar 2016]
http://nanbyodata.jp/ontology/NANDO_2200819	NANDO:2200819	PTCH1	http://identifiers.org/ncbigene/5727	5727	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9585	HGNC:9585	patched 1	This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200828	NANDO:2200828	PTCH1	http://identifiers.org/ncbigene/5727	5727	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9585	HGNC:9585	patched 1	This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200828	NANDO:2200828	PTCH2	http://identifiers.org/ncbigene/8643	8643	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9586	HGNC:9586	patched 2	This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2200918	NANDO:2200918	PTEN	http://identifiers.org/ncbigene/5728	5728	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9588	HGNC:9588	phosphatase and tensin homolog	This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. The use of a non-canonical (CUG) upstream initiation site produces a longer isoform that initiates translation with a leucine, and is thought to be preferentially associated with the mitochondrial inner membrane. This longer isoform may help regulate energy metabolism in the mitochondria. A pseudogene of this gene is found on chromosome 9. Alternative splicing and the use of multiple translation start codons results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]
http://nanbyodata.jp/ontology/NANDO_2200463	NANDO:2200463	PTF1A	http://identifiers.org/ncbigene/256297	256297	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23734	HGNC:23734	pancreas associated transcription factor 1a	This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201435	NANDO:2201435	PTF1A	http://identifiers.org/ncbigene/256297	256297	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23734	HGNC:23734	pancreas associated transcription factor 1a	This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200344	NANDO:2200344	PTH	http://identifiers.org/ncbigene/5741	5741	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9606	HGNC:9606	parathyroid hormone	This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_2200345	NANDO:2200345	PTH	http://identifiers.org/ncbigene/5741	5741	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9606	HGNC:9606	parathyroid hormone	This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200680	NANDO:1200680	PTPN11	http://identifiers.org/ncbigene/5781	5781	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9644	HGNC:9644	protein tyrosine phosphatase non-receptor type 11	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]
http://nanbyodata.jp/ontology/NANDO_2200015	NANDO:2200015	PTPN11	http://identifiers.org/ncbigene/5781	5781	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9644	HGNC:9644	protein tyrosine phosphatase non-receptor type 11	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]
http://nanbyodata.jp/ontology/NANDO_2200413	NANDO:2200413	PTPN11	http://identifiers.org/ncbigene/5781	5781	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9644	HGNC:9644	protein tyrosine phosphatase non-receptor type 11	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	PTS	http://identifiers.org/ncbigene/5805	5805	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9689	HGNC:9689	6-pyruvoyltetrahydropterin synthase	The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200516	NANDO:1200516	PTS	http://identifiers.org/ncbigene/5805	5805	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9689	HGNC:9689	6-pyruvoyltetrahydropterin synthase	The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1201108	NANDO:1201108	PURA	http://identifiers.org/ncbigene/5813	5813	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9701	HGNC:9701	purine rich element binding protein A	This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201405	NANDO:2201405	PURA	http://identifiers.org/ncbigene/5813	5813	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9701	HGNC:9701	purine rich element binding protein A	This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200892	NANDO:1200892	PUS1	http://identifiers.org/ncbigene/80324	80324	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15508	HGNC:15508	pseudouridine synthase 1	This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2200616	NANDO:2200616	PUS1	http://identifiers.org/ncbigene/80324	80324	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15508	HGNC:15508	pseudouridine synthase 1	This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200838	NANDO:1200838	PYGL	http://identifiers.org/ncbigene/5836	5836	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9725	HGNC:9725	glycogen phosphorylase L	This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_1200846	NANDO:1200846	PYGL	http://identifiers.org/ncbigene/5836	5836	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9725	HGNC:9725	glycogen phosphorylase L	This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_2200542	NANDO:2200542	PYGL	http://identifiers.org/ncbigene/5836	5836	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9725	HGNC:9725	glycogen phosphorylase L	This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_1200823	NANDO:1200823	PYGM	http://identifiers.org/ncbigene/5837	5837	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9726	HGNC:9726	glycogen phosphorylase, muscle associated	This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200828	NANDO:1200828	PYGM	http://identifiers.org/ncbigene/5837	5837	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9726	HGNC:9726	glycogen phosphorylase, muscle associated	This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2200541	NANDO:2200541	PYGM	http://identifiers.org/ncbigene/5837	5837	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9726	HGNC:9726	glycogen phosphorylase, muscle associated	This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2201408	NANDO:2201408	QARS1	http://identifiers.org/ncbigene/5859	5859	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9751	HGNC:9751	glutaminyl-tRNA synthetase 1	Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. In metazoans, 9 aminoacyl-tRNA synthetases specific for glutamine (gln), glutamic acid (glu), and 7 other amino acids are associated within a multienzyme complex. Although present in eukaryotes, glutaminyl-tRNA synthetase (QARS) is absent from many prokaryotes, mitochondria, and chloroplasts, in which Gln-tRNA(Gln) is formed by transamidation of the misacylated Glu-tRNA(Gln). Glutaminyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	QDPR	http://identifiers.org/ncbigene/5860	5860	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9752	HGNC:9752	quinoid dihydropteridine reductase	This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin.  This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations.  Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200516	NANDO:1200516	QDPR	http://identifiers.org/ncbigene/5860	5860	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9752	HGNC:9752	quinoid dihydropteridine reductase	This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin.  This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations.  Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200846	NANDO:2200846	RAB23	http://identifiers.org/ncbigene/51715	51715	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14263	HGNC:14263	RAB23, member RAS oncogene family	This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	RAB27A	http://identifiers.org/ncbigene/5873	5873	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9766	HGNC:9766	RAB27A, member RAS oncogene family	The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200637	NANDO:1200637	RAB27A	http://identifiers.org/ncbigene/5873	5873	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9766	HGNC:9766	RAB27A, member RAS oncogene family	The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200640	NANDO:1200640	RAB27A	http://identifiers.org/ncbigene/5873	5873	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9766	HGNC:9766	RAB27A, member RAS oncogene family	The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200747	NANDO:2200747	RAB27A	http://identifiers.org/ncbigene/5873	5873	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9766	HGNC:9766	RAB27A, member RAS oncogene family	The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	RAB7A	http://identifiers.org/ncbigene/7879	7879	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9788	HGNC:9788	RAB7A, member RAS oncogene family	RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200855	NANDO:2200855	RAB7A	http://identifiers.org/ncbigene/7879	7879	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9788	HGNC:9788	RAB7A, member RAS oncogene family	RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200957	NANDO:1200957	RAD21	http://identifiers.org/ncbigene/5885	5885	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9811	HGNC:9811	RAD21 cohesin complex component	The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated association of this protein with mitotic chromatin specifically at the centromere region suggests its role in sister chromatid cohesion in mitotic cells. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200960	NANDO:1200960	RAD21	http://identifiers.org/ncbigene/5885	5885	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9811	HGNC:9811	RAD21 cohesin complex component	The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated association of this protein with mitotic chromatin specifically at the centromere region suggests its role in sister chromatid cohesion in mitotic cells. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200958	NANDO:2200958	RAD21	http://identifiers.org/ncbigene/5885	5885	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9811	HGNC:9811	RAD21 cohesin complex component	The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated association of this protein with mitotic chromatin specifically at the centromere region suggests its role in sister chromatid cohesion in mitotic cells. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200891	NANDO:1200891	RAD51	http://identifiers.org/ncbigene/5888	5888	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9817	HGNC:9817	RAD51 recombinase	The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_1200891	NANDO:1200891	RAD51C	http://identifiers.org/ncbigene/5889	5889	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9820	HGNC:9820	RAD51 paralog C	This gene is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_1200680	NANDO:1200680	RAF1	http://identifiers.org/ncbigene/5894	5894	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9829	HGNC:9829	Raf-1 proto-oncogene, serine/threonine kinase	This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200413	NANDO:2200413	RAF1	http://identifiers.org/ncbigene/5894	5894	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9829	HGNC:9829	Raf-1 proto-oncogene, serine/threonine kinase	This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	RAG1	http://identifiers.org/ncbigene/5896	5896	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9831	HGNC:9831	recombination activating 1	The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200324	NANDO:1200324	RAG1	http://identifiers.org/ncbigene/5896	5896	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9831	HGNC:9831	recombination activating 1	The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200697	NANDO:2200697	RAG1	http://identifiers.org/ncbigene/5896	5896	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9831	HGNC:9831	recombination activating 1	The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	RAG2	http://identifiers.org/ncbigene/5897	5897	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9832	HGNC:9832	recombination activating 2	This gene encodes a protein that is involved in the initiation of V(D)J recombination during B and T cell development. This protein forms a complex with the product of the adjacent recombination activating gene 1, and this complex can form double-strand breaks by cleaving DNA at conserved recombination signal sequences. The recombination activating gene 1 component is thought to contain most of the catalytic activity, while the N-terminal of the recombination activating gene 2 component is thought to form a six-bladed propeller in the active core that serves as a binding scaffold for the tight association of the complex with DNA. A C-terminal plant homeodomain finger-like motif in this protein is necessary for interactions with chromatin components, specifically with histone H3 that is trimethylated at lysine 4. Mutations in this gene cause Omenn syndrome, a form of severe combined immunodeficiency associated with autoimmune-like symptoms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200324	NANDO:1200324	RAG2	http://identifiers.org/ncbigene/5897	5897	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9832	HGNC:9832	recombination activating 2	This gene encodes a protein that is involved in the initiation of V(D)J recombination during B and T cell development. This protein forms a complex with the product of the adjacent recombination activating gene 1, and this complex can form double-strand breaks by cleaving DNA at conserved recombination signal sequences. The recombination activating gene 1 component is thought to contain most of the catalytic activity, while the N-terminal of the recombination activating gene 2 component is thought to form a six-bladed propeller in the active core that serves as a binding scaffold for the tight association of the complex with DNA. A C-terminal plant homeodomain finger-like motif in this protein is necessary for interactions with chromatin components, specifically with histone H3 that is trimethylated at lysine 4. Mutations in this gene cause Omenn syndrome, a form of severe combined immunodeficiency associated with autoimmune-like symptoms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200697	NANDO:2200697	RAG2	http://identifiers.org/ncbigene/5897	5897	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9832	HGNC:9832	recombination activating 2	This gene encodes a protein that is involved in the initiation of V(D)J recombination during B and T cell development. This protein forms a complex with the product of the adjacent recombination activating gene 1, and this complex can form double-strand breaks by cleaving DNA at conserved recombination signal sequences. The recombination activating gene 1 component is thought to contain most of the catalytic activity, while the N-terminal of the recombination activating gene 2 component is thought to form a six-bladed propeller in the active core that serves as a binding scaffold for the tight association of the complex with DNA. A C-terminal plant homeodomain finger-like motif in this protein is necessary for interactions with chromatin components, specifically with histone H3 that is trimethylated at lysine 4. Mutations in this gene cause Omenn syndrome, a form of severe combined immunodeficiency associated with autoimmune-like symptoms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200687	NANDO:1200687	RAI1	http://identifiers.org/ncbigene/10743	10743	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9834	HGNC:9834	retinoic acid induced 1	This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200954	NANDO:2200954	RAI1	http://identifiers.org/ncbigene/10743	10743	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9834	HGNC:9834	retinoic acid induced 1	This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200953	NANDO:1200953	RAPGEF2	http://identifiers.org/ncbigene/9693	9693	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16854	HGNC:16854	Rap guanine nucleotide exchange factor 2	Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF2, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]
http://nanbyodata.jp/ontology/NANDO_1200956	NANDO:1200956	RAPGEF2	http://identifiers.org/ncbigene/9693	9693	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16854	HGNC:16854	Rap guanine nucleotide exchange factor 2	Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF2, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]
http://nanbyodata.jp/ontology/NANDO_1200021	NANDO:1200021	RAPSN	http://identifiers.org/ncbigene/5913	5913	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9863	HGNC:9863	receptor associated protein of the synapse	This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role in clustering and anchoring nicotinic acetylcholine receptors at synaptic sites by linking the receptors to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Mutations in this gene may play a role in postsynaptic congenital myasthenic syndromes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011]
http://nanbyodata.jp/ontology/NANDO_2200004	NANDO:2200004	RARA	http://identifiers.org/ncbigene/5914	5914	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9864	HGNC:9864	retinoic acid receptor alpha	This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulation of development, differentiation, apoptosis, granulopoeisis, and transcription of clock genes. Translocations between this locus and several other loci have been associated with acute promyelocytic leukemia. Alternatively spliced transcript variants have been found for this locus.[provided by RefSeq, Sep 2010]
http://nanbyodata.jp/ontology/NANDO_2200005	NANDO:2200005	RARA	http://identifiers.org/ncbigene/5914	5914	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9864	HGNC:9864	retinoic acid receptor alpha	This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulation of development, differentiation, apoptosis, granulopoeisis, and transcription of clock genes. Translocations between this locus and several other loci have been associated with acute promyelocytic leukemia. Alternatively spliced transcript variants have been found for this locus.[provided by RefSeq, Sep 2010]
http://nanbyodata.jp/ontology/NANDO_2200006	NANDO:2200006	RARA	http://identifiers.org/ncbigene/5914	5914	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9864	HGNC:9864	retinoic acid receptor alpha	This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulation of development, differentiation, apoptosis, granulopoeisis, and transcription of clock genes. Translocations between this locus and several other loci have been associated with acute promyelocytic leukemia. Alternatively spliced transcript variants have been found for this locus.[provided by RefSeq, Sep 2010]
http://nanbyodata.jp/ontology/NANDO_2200007	NANDO:2200007	RARA	http://identifiers.org/ncbigene/5914	5914	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9864	HGNC:9864	retinoic acid receptor alpha	This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulation of development, differentiation, apoptosis, granulopoeisis, and transcription of clock genes. Translocations between this locus and several other loci have been associated with acute promyelocytic leukemia. Alternatively spliced transcript variants have been found for this locus.[provided by RefSeq, Sep 2010]
http://nanbyodata.jp/ontology/NANDO_2200008	NANDO:2200008	RARA	http://identifiers.org/ncbigene/5914	5914	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9864	HGNC:9864	retinoic acid receptor alpha	This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulation of development, differentiation, apoptosis, granulopoeisis, and transcription of clock genes. Translocations between this locus and several other loci have been associated with acute promyelocytic leukemia. Alternatively spliced transcript variants have been found for this locus.[provided by RefSeq, Sep 2010]
http://nanbyodata.jp/ontology/NANDO_2200009	NANDO:2200009	RARA	http://identifiers.org/ncbigene/5914	5914	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9864	HGNC:9864	retinoic acid receptor alpha	This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulation of development, differentiation, apoptosis, granulopoeisis, and transcription of clock genes. Translocations between this locus and several other loci have been associated with acute promyelocytic leukemia. Alternatively spliced transcript variants have been found for this locus.[provided by RefSeq, Sep 2010]
http://nanbyodata.jp/ontology/NANDO_2200010	NANDO:2200010	RARA	http://identifiers.org/ncbigene/5914	5914	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9864	HGNC:9864	retinoic acid receptor alpha	This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulation of development, differentiation, apoptosis, granulopoeisis, and transcription of clock genes. Translocations between this locus and several other loci have been associated with acute promyelocytic leukemia. Alternatively spliced transcript variants have been found for this locus.[provided by RefSeq, Sep 2010]
http://nanbyodata.jp/ontology/NANDO_2200011	NANDO:2200011	RARA	http://identifiers.org/ncbigene/5914	5914	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9864	HGNC:9864	retinoic acid receptor alpha	This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulation of development, differentiation, apoptosis, granulopoeisis, and transcription of clock genes. Translocations between this locus and several other loci have been associated with acute promyelocytic leukemia. Alternatively spliced transcript variants have been found for this locus.[provided by RefSeq, Sep 2010]
http://nanbyodata.jp/ontology/NANDO_2200019	NANDO:2200019	RARA	http://identifiers.org/ncbigene/5914	5914	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9864	HGNC:9864	retinoic acid receptor alpha	This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulation of development, differentiation, apoptosis, granulopoeisis, and transcription of clock genes. Translocations between this locus and several other loci have been associated with acute promyelocytic leukemia. Alternatively spliced transcript variants have been found for this locus.[provided by RefSeq, Sep 2010]
http://nanbyodata.jp/ontology/NANDO_1200884	NANDO:1200884	RASA1	http://identifiers.org/ncbigene/5921	5921	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9871	HGNC:9871	RAS p21 protein activator 1	The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012]
http://nanbyodata.jp/ontology/NANDO_2201030	NANDO:2201030	RASA1	http://identifiers.org/ncbigene/5921	5921	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9871	HGNC:9871	RAS p21 protein activator 1	The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012]
http://nanbyodata.jp/ontology/NANDO_1200998	NANDO:1200998	RASGRP2	http://identifiers.org/ncbigene/10235	10235	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9879	HGNC:9879	RAS guanyl releasing protein 2	The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Four alternatively spliced transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_2201013	NANDO:2201013	RASGRP2	http://identifiers.org/ncbigene/10235	10235	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9879	HGNC:9879	RAS guanyl releasing protein 2	The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Four alternatively spliced transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_2200042	NANDO:2200042	RB1	http://identifiers.org/ncbigene/5925	5925	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9884	HGNC:9884	RB transcriptional corepressor 1	The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200048	NANDO:2200048	RB1	http://identifiers.org/ncbigene/5925	5925	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9884	HGNC:9884	RB transcriptional corepressor 1	The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201036	NANDO:2201036	RB1	http://identifiers.org/ncbigene/5925	5925	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9884	HGNC:9884	RB transcriptional corepressor 1	The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201037	NANDO:2201037	RB1	http://identifiers.org/ncbigene/5925	5925	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9884	HGNC:9884	RB transcriptional corepressor 1	The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201038	NANDO:2201038	RB1	http://identifiers.org/ncbigene/5925	5925	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9884	HGNC:9884	RB transcriptional corepressor 1	The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200440	NANDO:2200440	RBCK1	http://identifiers.org/ncbigene/10616	10616	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15864	HGNC:15864	RANBP2-type and C3HC4-type zinc finger containing 1	The protein encoded by this gene is similar to mouse UIP28/UbcM4 interacting protein. Alternative splicing has been observed at this locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200456	NANDO:2200456	RBCK1	http://identifiers.org/ncbigene/10616	10616	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15864	HGNC:15864	RANBP2-type and C3HC4-type zinc finger containing 1	The protein encoded by this gene is similar to mouse UIP28/UbcM4 interacting protein. Alternative splicing has been observed at this locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200765	NANDO:2200765	RBCK1	http://identifiers.org/ncbigene/10616	10616	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15864	HGNC:15864	RANBP2-type and C3HC4-type zinc finger containing 1	The protein encoded by this gene is similar to mouse UIP28/UbcM4 interacting protein. Alternative splicing has been observed at this locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200766	NANDO:2200766	RBCK1	http://identifiers.org/ncbigene/10616	10616	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15864	HGNC:15864	RANBP2-type and C3HC4-type zinc finger containing 1	The protein encoded by this gene is similar to mouse UIP28/UbcM4 interacting protein. Alternative splicing has been observed at this locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200004	NANDO:2200004	RBM15	http://identifiers.org/ncbigene/64783	64783	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14959	HGNC:14959	RNA binding motif protein 15	Members of the SPEN (Split-end) family of proteins, including RBM15, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_2200005	NANDO:2200005	RBM15	http://identifiers.org/ncbigene/64783	64783	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14959	HGNC:14959	RNA binding motif protein 15	Members of the SPEN (Split-end) family of proteins, including RBM15, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_2200006	NANDO:2200006	RBM15	http://identifiers.org/ncbigene/64783	64783	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14959	HGNC:14959	RNA binding motif protein 15	Members of the SPEN (Split-end) family of proteins, including RBM15, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_2200007	NANDO:2200007	RBM15	http://identifiers.org/ncbigene/64783	64783	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14959	HGNC:14959	RNA binding motif protein 15	Members of the SPEN (Split-end) family of proteins, including RBM15, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_2200008	NANDO:2200008	RBM15	http://identifiers.org/ncbigene/64783	64783	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14959	HGNC:14959	RNA binding motif protein 15	Members of the SPEN (Split-end) family of proteins, including RBM15, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_2200009	NANDO:2200009	RBM15	http://identifiers.org/ncbigene/64783	64783	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14959	HGNC:14959	RNA binding motif protein 15	Members of the SPEN (Split-end) family of proteins, including RBM15, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_2200010	NANDO:2200010	RBM15	http://identifiers.org/ncbigene/64783	64783	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14959	HGNC:14959	RNA binding motif protein 15	Members of the SPEN (Split-end) family of proteins, including RBM15, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_2200011	NANDO:2200011	RBM15	http://identifiers.org/ncbigene/64783	64783	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14959	HGNC:14959	RNA binding motif protein 15	Members of the SPEN (Split-end) family of proteins, including RBM15, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_2200019	NANDO:2200019	RBM15	http://identifiers.org/ncbigene/64783	64783	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14959	HGNC:14959	RNA binding motif protein 15	Members of the SPEN (Split-end) family of proteins, including RBM15, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_2200659	NANDO:2200659	RBM8A	http://identifiers.org/ncbigene/9939	9939	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9905	HGNC:9905	RNA binding motif protein 8A	This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_2200661	NANDO:2200661	RBM8A	http://identifiers.org/ncbigene/9939	9939	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9905	HGNC:9905	RNA binding motif protein 8A	This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_2201527	NANDO:2201527	RECQL4	http://identifiers.org/ncbigene/9401	9401	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9949	HGNC:9949	RecQ like helicase 4	The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_2201529	NANDO:2201529	RECQL4	http://identifiers.org/ncbigene/9401	9401	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9949	HGNC:9949	RecQ like helicase 4	The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_2201530	NANDO:2201530	RECQL4	http://identifiers.org/ncbigene/9401	9401	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9949	HGNC:9949	RecQ like helicase 4	The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_2201531	NANDO:2201531	RECQL4	http://identifiers.org/ncbigene/9401	9401	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9949	HGNC:9949	RecQ like helicase 4	The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	REEP1	http://identifiers.org/ncbigene/65055	65055	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25786	HGNC:25786	receptor accessory protein 1	This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2201386	NANDO:2201386	REN	http://identifiers.org/ncbigene/5972	5972	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9958	HGNC:9958	renin	This gene encodes renin, an aspartic protease that is secreted by the kidneys. Renin is a part of the renin-angiotensin-aldosterone system involved in regulation of blood pressure, and electrolyte balance. This enzyme catalyzes the first step in the activation pathway of angiotensinogen by cleaving angiotensinogen to form angiotensin I, which is then converted to angiotensin II by angiotensin I converting enzyme. This cascade can result in aldosterone release, narrowing of blood vessels, and increase in blood pressure as angiotension II is a vasoconstrictive peptide. Transcript variants that encode different protein isoforms and that arise from alternative splicing and the use of alternative promoters have been described, but their full-length nature has not been determined. Mutations in this gene have been shown to cause hyperuricemic nephropathy familial juvenile 2, familial hyperproreninemia, and renal tubular dysgenesis. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_2201389	NANDO:2201389	REN	http://identifiers.org/ncbigene/5972	5972	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9958	HGNC:9958	renin	This gene encodes renin, an aspartic protease that is secreted by the kidneys. Renin is a part of the renin-angiotensin-aldosterone system involved in regulation of blood pressure, and electrolyte balance. This enzyme catalyzes the first step in the activation pathway of angiotensinogen by cleaving angiotensinogen to form angiotensin I, which is then converted to angiotensin II by angiotensin I converting enzyme. This cascade can result in aldosterone release, narrowing of blood vessels, and increase in blood pressure as angiotension II is a vasoconstrictive peptide. Transcript variants that encode different protein isoforms and that arise from alternative splicing and the use of alternative promoters have been described, but their full-length nature has not been determined. Mutations in this gene have been shown to cause hyperuricemic nephropathy familial juvenile 2, familial hyperproreninemia, and renal tubular dysgenesis. [provided by RefSeq, May 2020]
http://nanbyodata.jp/ontology/NANDO_2200074	NANDO:2200074	RET	http://identifiers.org/ncbigene/5979	5979	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9967	HGNC:9967	ret proto-oncogene	This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and other related proteins to the encoded receptor stimulates receptor dimerization and activation of downstream signaling pathways that play a role in cell differentiation, growth, migration and survival. The encoded receptor is important in development of the nervous system, and the development of organs and tissues derived from the neural crest. This proto-oncogene can undergo oncogenic activation through both cytogenetic rearrangement and activating point mutations. Mutations in this gene are associated with Hirschsprung disease and central hypoventilation syndrome and have been identified in patients with renal agenesis. [provided by RefSeq, Sep 2017]
http://nanbyodata.jp/ontology/NANDO_2200406	NANDO:2200406	RET	http://identifiers.org/ncbigene/5979	5979	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9967	HGNC:9967	ret proto-oncogene	This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and other related proteins to the encoded receptor stimulates receptor dimerization and activation of downstream signaling pathways that play a role in cell differentiation, growth, migration and survival. The encoded receptor is important in development of the nervous system, and the development of organs and tissues derived from the neural crest. This proto-oncogene can undergo oncogenic activation through both cytogenetic rearrangement and activating point mutations. Mutations in this gene are associated with Hirschsprung disease and central hypoventilation syndrome and have been identified in patients with renal agenesis. [provided by RefSeq, Sep 2017]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	RFC1	http://identifiers.org/ncbigene/5981	5981	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9969	HGNC:9969	replication factor C subunit 1	This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	RFX5	http://identifiers.org/ncbigene/5993	5993	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9986	HGNC:9986	regulatory factor X5	A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200329	NANDO:1200329	RFX5	http://identifiers.org/ncbigene/5993	5993	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9986	HGNC:9986	regulatory factor X5	A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200702	NANDO:2200702	RFX5	http://identifiers.org/ncbigene/5993	5993	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9986	HGNC:9986	regulatory factor X5	A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200463	NANDO:2200463	RFX6	http://identifiers.org/ncbigene/222546	222546	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21478	HGNC:21478	regulatory factor X6	The nuclear protein encoded by this gene is a member of the regulatory factor X (RFX) family of transcription factors. Studies in mice suggest that this gene is specifically required for the differentiation of islet cells for the production of insulin, but not for the differentiation of pancreatic polypeptide-producing cells. It regulates the transcription factors involved in beta-cell maturation and function, thus, restricting the expression of the beta-cell differentiation and specification genes. Mutations in this gene are associated with Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic hypoplasia, duodenal and jejunal atresia, and gall bladder agenesis.[provided by RefSeq, Sep 2010]
http://nanbyodata.jp/ontology/NANDO_2201435	NANDO:2201435	RFX6	http://identifiers.org/ncbigene/222546	222546	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21478	HGNC:21478	regulatory factor X6	The nuclear protein encoded by this gene is a member of the regulatory factor X (RFX) family of transcription factors. Studies in mice suggest that this gene is specifically required for the differentiation of islet cells for the production of insulin, but not for the differentiation of pancreatic polypeptide-producing cells. It regulates the transcription factors involved in beta-cell maturation and function, thus, restricting the expression of the beta-cell differentiation and specification genes. Mutations in this gene are associated with Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic hypoplasia, duodenal and jejunal atresia, and gall bladder agenesis.[provided by RefSeq, Sep 2010]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	RFXANK	http://identifiers.org/ncbigene/8625	8625	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9987	HGNC:9987	regulatory factor X associated ankyrin containing protein	Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_1200329	NANDO:1200329	RFXANK	http://identifiers.org/ncbigene/8625	8625	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9987	HGNC:9987	regulatory factor X associated ankyrin containing protein	Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_2200702	NANDO:2200702	RFXANK	http://identifiers.org/ncbigene/8625	8625	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9987	HGNC:9987	regulatory factor X associated ankyrin containing protein	Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	RFXAP	http://identifiers.org/ncbigene/5994	5994	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9988	HGNC:9988	regulatory factor X associated protein	Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200329	NANDO:1200329	RFXAP	http://identifiers.org/ncbigene/5994	5994	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9988	HGNC:9988	regulatory factor X associated protein	Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200702	NANDO:2200702	RFXAP	http://identifiers.org/ncbigene/5994	5994	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9988	HGNC:9988	regulatory factor X associated protein	Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200623	NANDO:2200623	RHAG	http://identifiers.org/ncbigene/6005	6005	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10006	HGNC:10006	Rh associated glycoprotein	The protein encoded by this gene is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency syndrome.[provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2201498	NANDO:2201498	RHEB	http://identifiers.org/ncbigene/6009	6009	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10011	HGNC:10011	Ras homolog, mTORC1 binding	This gene is a member of the small GTPase superfamily and encodes a lipid-anchored, cell membrane protein with five repeats of the RAS-related GTP-binding region. This protein is vital in regulation of growth and cell cycle progression due to its role in the insulin/TOR/S6K signaling pathway. The protein has GTPase activity and shuttles between a GDP-bound form and a GTP-bound form, and farnesylation of the protein is required for this activity. Three pseudogenes have been mapped, two on chromosome 10 and one on chromosome 22. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200431	NANDO:1200431	RHO	http://identifiers.org/ncbigene/6010	6010	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10012	HGNC:10012	rhodopsin	The protein encoded by this gene is found in rod cells in the back of the eye and is essential for vision in low-light conditions. The encoded protein binds to 11-cis retinal and is activated when light hits the retinal molecule. Defects in this gene are a cause of congenital stationary night blindness. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200680	NANDO:1200680	RIT1	http://identifiers.org/ncbigene/6016	6016	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10023	HGNC:10023	Ras like without CAAX 1	This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
http://nanbyodata.jp/ontology/NANDO_2200697	NANDO:2200697	RMRP	http://identifiers.org/ncbigene/6023	6023	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10031	HGNC:10031	RNA component of mitochondrial RNA processing endoribonuclease	This gene encodes the RNA component of mitochondrial RNA processing endoribonuclease, which cleaves mitochondrial RNA at a priming site of mitochondrial DNA replication. This RNA also interacts with the telomerase reverse transcriptase catalytic subunit to form a distinct ribonucleoprotein complex that has RNA-dependent RNA polymerase activity and produces double-stranded RNAs that can be processed into small interfering RNA. Mutations in this gene are associated with cartilage-hair hypoplasia.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200993	NANDO:1200993	RNASEH2A	http://identifiers.org/ncbigene/10535	10535	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18518	HGNC:18518	ribonuclease H2 subunit A	The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_1200996	NANDO:1200996	RNASEH2A	http://identifiers.org/ncbigene/10535	10535	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18518	HGNC:18518	ribonuclease H2 subunit A	The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	RNASEH2A	http://identifiers.org/ncbigene/10535	10535	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18518	HGNC:18518	ribonuclease H2 subunit A	The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_2200893	NANDO:2200893	RNASEH2A	http://identifiers.org/ncbigene/10535	10535	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18518	HGNC:18518	ribonuclease H2 subunit A	The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_2200896	NANDO:2200896	RNASEH2A	http://identifiers.org/ncbigene/10535	10535	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18518	HGNC:18518	ribonuclease H2 subunit A	The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_1200993	NANDO:1200993	RNASEH2B	http://identifiers.org/ncbigene/79621	79621	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25671	HGNC:25671	ribonuclease H2 subunit B	RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_1200996	NANDO:1200996	RNASEH2B	http://identifiers.org/ncbigene/79621	79621	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25671	HGNC:25671	ribonuclease H2 subunit B	RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	RNASEH2B	http://identifiers.org/ncbigene/79621	79621	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25671	HGNC:25671	ribonuclease H2 subunit B	RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_2200893	NANDO:2200893	RNASEH2B	http://identifiers.org/ncbigene/79621	79621	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25671	HGNC:25671	ribonuclease H2 subunit B	RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_2200894	NANDO:2200894	RNASEH2B	http://identifiers.org/ncbigene/79621	79621	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25671	HGNC:25671	ribonuclease H2 subunit B	RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_1200993	NANDO:1200993	RNASEH2C	http://identifiers.org/ncbigene/84153	84153	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24116	HGNC:24116	ribonuclease H2 subunit C	This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200996	NANDO:1200996	RNASEH2C	http://identifiers.org/ncbigene/84153	84153	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24116	HGNC:24116	ribonuclease H2 subunit C	This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	RNASEH2C	http://identifiers.org/ncbigene/84153	84153	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24116	HGNC:24116	ribonuclease H2 subunit C	This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200893	NANDO:2200893	RNASEH2C	http://identifiers.org/ncbigene/84153	84153	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24116	HGNC:24116	ribonuclease H2 subunit C	This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200895	NANDO:2200895	RNASEH2C	http://identifiers.org/ncbigene/84153	84153	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24116	HGNC:24116	ribonuclease H2 subunit C	This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	RNF168	http://identifiers.org/ncbigene/165918	165918	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26661	HGNC:26661	ring finger protein 168	This gene encodes an E3 ubiquitin ligase protein that contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The protein is involved in DNA double-strand break (DSB) repair. Mutations in this gene result in Riddle syndrome. [provided by RefSeq, Sep 2011]
http://nanbyodata.jp/ontology/NANDO_1200336	NANDO:1200336	RNF168	http://identifiers.org/ncbigene/165918	165918	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26661	HGNC:26661	ring finger protein 168	This gene encodes an E3 ubiquitin ligase protein that contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The protein is involved in DNA double-strand break (DSB) repair. Mutations in this gene result in Riddle syndrome. [provided by RefSeq, Sep 2011]
http://nanbyodata.jp/ontology/NANDO_2200710	NANDO:2200710	RNF168	http://identifiers.org/ncbigene/165918	165918	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26661	HGNC:26661	ring finger protein 168	This gene encodes an E3 ubiquitin ligase protein that contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The protein is involved in DNA double-strand break (DSB) repair. Mutations in this gene result in Riddle syndrome. [provided by RefSeq, Sep 2011]
http://nanbyodata.jp/ontology/NANDO_1200183	NANDO:1200183	RNF213	http://identifiers.org/ncbigene/57674	57674	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14539	HGNC:14539	ring finger protein 213	This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_1200431	NANDO:1200431	RP1	http://identifiers.org/ncbigene/6101	6101	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10263	HGNC:10263	RP1 axonemal microtubule associated	This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Transcript variants resulted from an alternative promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of some variants cannot be determined at this time.[provided by RefSeq, Sep 2010]
http://nanbyodata.jp/ontology/NANDO_1200431	NANDO:1200431	RPGR	http://identifiers.org/ncbigene/6103	6103	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10295	HGNC:10295	retinitis pigmentosa GTPase regulator	This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	RPGR	http://identifiers.org/ncbigene/6103	6103	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10295	HGNC:10295	retinitis pigmentosa GTPase regulator	This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_2200203	NANDO:2200203	RPGR	http://identifiers.org/ncbigene/6103	6103	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10295	HGNC:10295	retinitis pigmentosa GTPase regulator	This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	RPGRIP1L	http://identifiers.org/ncbigene/23322	23322	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29168	HGNC:29168	RPGRIP1 like	The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	RPGRIP1L	http://identifiers.org/ncbigene/23322	23322	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29168	HGNC:29168	RPGRIP1 like	The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]
http://nanbyodata.jp/ontology/NANDO_2200140	NANDO:2200140	RPGRIP1L	http://identifiers.org/ncbigene/23322	23322	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29168	HGNC:29168	RPGRIP1 like	The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]
http://nanbyodata.jp/ontology/NANDO_2200824	NANDO:2200824	RPGRIP1L	http://identifiers.org/ncbigene/23322	23322	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29168	HGNC:29168	RPGRIP1 like	The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	RPL11	http://identifiers.org/ncbigene/6135	6135	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10301	HGNC:10301	ribosomal protein L11	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L5P family of ribosomal proteins. It is located in the cytoplasm. The protein probably associates with the 5S rRNA. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Dec 2010]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	RPL11	http://identifiers.org/ncbigene/6135	6135	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10301	HGNC:10301	ribosomal protein L11	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L5P family of ribosomal proteins. It is located in the cytoplasm. The protein probably associates with the 5S rRNA. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Dec 2010]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	RPL15	http://identifiers.org/ncbigene/6138	6138	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10306	HGNC:10306	ribosomal protein L15	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L15E family of ribosomal proteins and a component of the 60S subunit. This gene shares sequence similarity with the yeast ribosomal protein YL10 gene. Elevated expression of this gene has been observed in esophageal tumors and gastric cancer tissues, and deletion of this gene has been observed in a Diamond-Blackfan anemia (DBA) patient. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Mar 2017]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	RPL15	http://identifiers.org/ncbigene/6138	6138	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10306	HGNC:10306	ribosomal protein L15	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L15E family of ribosomal proteins and a component of the 60S subunit. This gene shares sequence similarity with the yeast ribosomal protein YL10 gene. Elevated expression of this gene has been observed in esophageal tumors and gastric cancer tissues, and deletion of this gene has been observed in a Diamond-Blackfan anemia (DBA) patient. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Mar 2017]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	RPL18	http://identifiers.org/ncbigene/6141	6141	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10310	HGNC:10310	ribosomal protein L18	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18E family of ribosomal proteins that is a component of the 60S subunit. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	RPL18	http://identifiers.org/ncbigene/6141	6141	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10310	HGNC:10310	ribosomal protein L18	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18E family of ribosomal proteins that is a component of the 60S subunit. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	RPL26	http://identifiers.org/ncbigene/6154	6154	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10327	HGNC:10327	ribosomal protein L26	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L24P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	RPL26	http://identifiers.org/ncbigene/6154	6154	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10327	HGNC:10327	ribosomal protein L26	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L24P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	RPL27	http://identifiers.org/ncbigene/6155	6155	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10328	HGNC:10328	ribosomal protein L27	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L27e family of ribosomal proteins and a component of the 60S subunit. A splice site mutation in this gene has been identified in a Diamond-Blackfan anemia (DBA) patient. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Mar 2017]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	RPL27	http://identifiers.org/ncbigene/6155	6155	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10328	HGNC:10328	ribosomal protein L27	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L27e family of ribosomal proteins and a component of the 60S subunit. A splice site mutation in this gene has been identified in a Diamond-Blackfan anemia (DBA) patient. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Mar 2017]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	RPL29	http://identifiers.org/ncbigene/6159	6159	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10331	HGNC:10331	ribosomal protein L29	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29E family of ribosomal proteins. The protein is also a peripheral membrane protein expressed on the cell surface that directly binds heparin. Although this gene was previously reported to map to 3q29-qter, it is believed that it is located at 3p21.3-p21.2. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	RPL29	http://identifiers.org/ncbigene/6159	6159	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10331	HGNC:10331	ribosomal protein L29	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29E family of ribosomal proteins. The protein is also a peripheral membrane protein expressed on the cell surface that directly binds heparin. Although this gene was previously reported to map to 3q29-qter, it is believed that it is located at 3p21.3-p21.2. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	RPL31	http://identifiers.org/ncbigene/6160	6160	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10334	HGNC:10334	ribosomal protein L31	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L31E family of ribosomal proteins. It is located in the cytoplasm. Higher levels of expression of this gene in familial adenomatous polyps compared to matched normal tissues have been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	RPL31	http://identifiers.org/ncbigene/6160	6160	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10334	HGNC:10334	ribosomal protein L31	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L31E family of ribosomal proteins. It is located in the cytoplasm. Higher levels of expression of this gene in familial adenomatous polyps compared to matched normal tissues have been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	RPL35	http://identifiers.org/ncbigene/11224	11224	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10344	HGNC:10344	ribosomal protein L35	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	RPL35	http://identifiers.org/ncbigene/11224	11224	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10344	HGNC:10344	ribosomal protein L35	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	RPL35A	http://identifiers.org/ncbigene/6165	6165	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10345	HGNC:10345	ribosomal protein L35a	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L35AE family of ribosomal proteins. It is located in the cytoplasm. The rat protein has been shown to bind to both initiator and elongator tRNAs, and thus, it is located at the P site, or P and A sites, of the ribosome. Although this gene was originally mapped to chromosome 18, it has been established that it is located at 3q29-qter. Alternative splicing results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	RPL35A	http://identifiers.org/ncbigene/6165	6165	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10345	HGNC:10345	ribosomal protein L35a	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L35AE family of ribosomal proteins. It is located in the cytoplasm. The rat protein has been shown to bind to both initiator and elongator tRNAs, and thus, it is located at the P site, or P and A sites, of the ribosome. Although this gene was originally mapped to chromosome 18, it has been established that it is located at 3q29-qter. Alternative splicing results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	RPL5	http://identifiers.org/ncbigene/6125	6125	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10360	HGNC:10360	ribosomal protein L5	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18P family of ribosomal proteins and component of the 60S subunit. The encoded protein binds 5S rRNA to form a stable complex called the 5S ribonucleoprotein particle (RNP), which is necessary for the transport of nonribosome-associated cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes. The encoded protein may also function to inhibit tumorigenesis through the activation of downstream tumor suppressors and the downregulation of oncoprotein expression. Mutations in this gene have been identified in patients with Diamond-Blackfan Anemia (DBA). This gene is co-transcribed with the small nucleolar RNA gene U21, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Mar 2017]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	RPL5	http://identifiers.org/ncbigene/6125	6125	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10360	HGNC:10360	ribosomal protein L5	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18P family of ribosomal proteins and component of the 60S subunit. The encoded protein binds 5S rRNA to form a stable complex called the 5S ribonucleoprotein particle (RNP), which is necessary for the transport of nonribosome-associated cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes. The encoded protein may also function to inhibit tumorigenesis through the activation of downstream tumor suppressors and the downregulation of oncoprotein expression. Mutations in this gene have been identified in patients with Diamond-Blackfan Anemia (DBA). This gene is co-transcribed with the small nucleolar RNA gene U21, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Mar 2017]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	RPL9	http://identifiers.org/ncbigene/6133	6133	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10369	HGNC:10369	ribosomal protein L9	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L6P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	RPL9	http://identifiers.org/ncbigene/6133	6133	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10369	HGNC:10369	ribosomal protein L9	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L6P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_2200004	NANDO:2200004	RPN1	http://identifiers.org/ncbigene/6184	6184	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10381	HGNC:10381	ribophorin I	This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein forms part of the regulatory subunit of the 26S proteasome and may mediate binding of ubiquitin-like domains to this proteasome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200019	NANDO:2200019	RPN1	http://identifiers.org/ncbigene/6184	6184	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10381	HGNC:10381	ribophorin I	This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein forms part of the regulatory subunit of the 26S proteasome and may mediate binding of ubiquitin-like domains to this proteasome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	RPS10	http://identifiers.org/ncbigene/6204	6204	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10383	HGNC:10383	ribosomal protein S10	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternate splicing results in multiple transcript variants that encode the same protein. Naturally occurring read-through transcription occurs between this locus and the neighboring locus NUDT3 (nudix (nucleoside diphosphate linked moiety X)-type motif 3).[provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	RPS10	http://identifiers.org/ncbigene/6204	6204	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10383	HGNC:10383	ribosomal protein S10	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternate splicing results in multiple transcript variants that encode the same protein. Naturally occurring read-through transcription occurs between this locus and the neighboring locus NUDT3 (nudix (nucleoside diphosphate linked moiety X)-type motif 3).[provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	RPS15	http://identifiers.org/ncbigene/6209	6209	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10388	HGNC:10388	ribosomal protein S15	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19P family of ribosomal proteins. It is located in the cytoplasm. This gene has been found to be activated in various tumors, such as insulinomas, esophageal cancers, and colon cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	RPS15	http://identifiers.org/ncbigene/6209	6209	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10388	HGNC:10388	ribosomal protein S15	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19P family of ribosomal proteins. It is located in the cytoplasm. This gene has been found to be activated in various tumors, such as insulinomas, esophageal cancers, and colon cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	RPS15A	http://identifiers.org/ncbigene/6210	6210	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10389	HGNC:10389	ribosomal protein S15a	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	RPS15A	http://identifiers.org/ncbigene/6210	6210	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10389	HGNC:10389	ribosomal protein S15a	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	RPS17	http://identifiers.org/ncbigene/6218	6218	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10397	HGNC:10397	ribosomal protein S17	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S17E family of ribosomal proteins and is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia 4. Alternative splicing of this gene results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Apr 2014]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	RPS17	http://identifiers.org/ncbigene/6218	6218	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10397	HGNC:10397	ribosomal protein S17	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S17E family of ribosomal proteins and is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia 4. Alternative splicing of this gene results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Apr 2014]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	RPS19	http://identifiers.org/ncbigene/6223	6223	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10402	HGNC:10402	ribosomal protein S19	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	RPS19	http://identifiers.org/ncbigene/6223	6223	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10402	HGNC:10402	ribosomal protein S19	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	RPS24	http://identifiers.org/ncbigene/6229	6229	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10411	HGNC:10411	ribosomal protein S24	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S24E family of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. [provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	RPS24	http://identifiers.org/ncbigene/6229	6229	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10411	HGNC:10411	ribosomal protein S24	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S24E family of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. [provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	RPS26	http://identifiers.org/ncbigene/6231	6231	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10414	HGNC:10414	ribosomal protein S26	This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. Mutations in this gene are found in Diamond-Blackfan anemia 10. There are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	RPS26	http://identifiers.org/ncbigene/6231	6231	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10414	HGNC:10414	ribosomal protein S26	This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. Mutations in this gene are found in Diamond-Blackfan anemia 10. There are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	RPS27	http://identifiers.org/ncbigene/6232	6232	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10416	HGNC:10416	ribosomal protein S27	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the S27e family of ribosomal proteins and component of the 40S subunit. The encoded protein contains a C4-type zinc finger domain that can bind to zinc and may bind to nucleic acid. Mutations in this gene have been identified in numerous melanoma patients and in at least one patient with Diamond-Blackfan anemia (DBA). Elevated expression of this gene has been observed in various human cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2018]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	RPS27	http://identifiers.org/ncbigene/6232	6232	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10416	HGNC:10416	ribosomal protein S27	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the S27e family of ribosomal proteins and component of the 40S subunit. The encoded protein contains a C4-type zinc finger domain that can bind to zinc and may bind to nucleic acid. Mutations in this gene have been identified in numerous melanoma patients and in at least one patient with Diamond-Blackfan anemia (DBA). Elevated expression of this gene has been observed in various human cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2018]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	RPS27A	http://identifiers.org/ncbigene/6233	6233	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10417	HGNC:10417	ribosomal protein S27a	Ubiquitin, a highly conserved protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome, is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein S27a at the C terminus. When expressed in yeast, the protein is post-translationally processed, generating free ubiquitin monomer and ribosomal protein S27a. Ribosomal protein S27a is a component of the 40S subunit of the ribosome and belongs to the S27AE family of ribosomal proteins. It contains C4-type zinc finger domains and is located in the cytoplasm. Pseudogenes derived from this gene are present in the genome. As with ribosomal protein S27a, ribosomal protein L40 is also synthesized as a fusion protein with ubiquitin; similarly, ribosomal protein S30 is synthesized as a fusion protein with the ubiquitin-like protein fubi. Multiple alternatively spliced transcript variants that encode the same proteins have been identified.[provided by RefSeq, Sep 2008]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	RPS27A	http://identifiers.org/ncbigene/6233	6233	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10417	HGNC:10417	ribosomal protein S27a	Ubiquitin, a highly conserved protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome, is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein S27a at the C terminus. When expressed in yeast, the protein is post-translationally processed, generating free ubiquitin monomer and ribosomal protein S27a. Ribosomal protein S27a is a component of the 40S subunit of the ribosome and belongs to the S27AE family of ribosomal proteins. It contains C4-type zinc finger domains and is located in the cytoplasm. Pseudogenes derived from this gene are present in the genome. As with ribosomal protein S27a, ribosomal protein L40 is also synthesized as a fusion protein with ubiquitin; similarly, ribosomal protein S30 is synthesized as a fusion protein with the ubiquitin-like protein fubi. Multiple alternatively spliced transcript variants that encode the same proteins have been identified.[provided by RefSeq, Sep 2008]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	RPS28	http://identifiers.org/ncbigene/6234	6234	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10418	HGNC:10418	ribosomal protein S28	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S28E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	RPS28	http://identifiers.org/ncbigene/6234	6234	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10418	HGNC:10418	ribosomal protein S28	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S28E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	RPS29	http://identifiers.org/ncbigene/6235	6235	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10419	HGNC:10419	ribosomal protein S29	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit and a member of the S14P family of ribosomal proteins. The protein, which contains a C2-C2 zinc finger-like domain that can bind to zinc, can enhance the tumor suppressor activity of Ras-related protein 1A (KREV1). It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	RPS29	http://identifiers.org/ncbigene/6235	6235	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10419	HGNC:10419	ribosomal protein S29	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit and a member of the S14P family of ribosomal proteins. The protein, which contains a C2-C2 zinc finger-like domain that can bind to zinc, can enhance the tumor suppressor activity of Ras-related protein 1A (KREV1). It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]
http://nanbyodata.jp/ontology/NANDO_1200660	NANDO:1200660	RPS6KA3	http://identifiers.org/ncbigene/6197	6197	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10432	HGNC:10432	ribosomal protein S6 kinase A3	This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200952	NANDO:2200952	RPS6KA3	http://identifiers.org/ncbigene/6197	6197	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10432	HGNC:10432	ribosomal protein S6 kinase A3	This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	RPS7	http://identifiers.org/ncbigene/6201	6201	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10440	HGNC:10440	ribosomal protein S7	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	RPS7	http://identifiers.org/ncbigene/6201	6201	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10440	HGNC:10440	ribosomal protein S7	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200765	NANDO:2200765	RPSA	http://identifiers.org/ncbigene/3921	3921	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6502	HGNC:6502	ribosomal protein SA	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Many of the effects of laminin are mediated through interactions with cell surface receptors. These receptors include members of the integrin family, as well as non-integrin laminin-binding proteins. This gene encodes a high-affinity, non-integrin family, laminin receptor 1. This receptor has been variously called 67 kD laminin receptor, 37 kD laminin receptor precursor (37LRP) and p40 ribosome-associated protein. The amino acid sequence of laminin receptor 1 is highly conserved through evolution, suggesting a key biological function. It has been observed that the level of the laminin receptor transcript is higher in colon carcinoma tissue and lung cancer cell line than their normal counterparts. Also, there is a correlation between the upregulation of this polypeptide in cancer cells and their invasive and metastatic phenotype. Multiple copies of this gene exist, however, most of them are pseudogenes thought to have arisen from retropositional events. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200775	NANDO:2200775	RPSA	http://identifiers.org/ncbigene/3921	3921	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6502	HGNC:6502	ribosomal protein SA	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Many of the effects of laminin are mediated through interactions with cell surface receptors. These receptors include members of the integrin family, as well as non-integrin laminin-binding proteins. This gene encodes a high-affinity, non-integrin family, laminin receptor 1. This receptor has been variously called 67 kD laminin receptor, 37 kD laminin receptor precursor (37LRP) and p40 ribosome-associated protein. The amino acid sequence of laminin receptor 1 is highly conserved through evolution, suggesting a key biological function. It has been observed that the level of the laminin receptor transcript is higher in colon carcinoma tissue and lung cancer cell line than their normal counterparts. Also, there is a correlation between the upregulation of this polypeptide in cancer cells and their invasive and metastatic phenotype. Multiple copies of this gene exist, however, most of them are pseudogenes thought to have arisen from retropositional events. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200680	NANDO:1200680	RRAS	http://identifiers.org/ncbigene/6237	6237	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10447	HGNC:10447	RAS related	The protein encoded by this gene is a small GTPase involved in diverse processes including angiogenesis, vascular homeostasis and regeneration, cell adhesion, and neuronal axon guidance. Mutations in this gene are found in many invasive cancers. [provided by RefSeq, Jul 2015]
http://nanbyodata.jp/ontology/NANDO_1200680	NANDO:1200680	RRAS2	http://identifiers.org/ncbigene/22800	22800	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17271	HGNC:17271	RAS related 2	This gene encodes a member of the R-Ras subfamily of Ras-like small GTPases. The encoded protein associates with the plasma membrane and may function as a signal transducer. This protein may play an important role in activating signal transduction pathways that control cell proliferation. Mutations in this gene are associated with the growth of certain tumors. Pseudogenes of this gene are found on chromosomes 1 and 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
http://nanbyodata.jp/ontology/NANDO_2200523	NANDO:2200523	RRM2B	http://identifiers.org/ncbigene/50484	50484	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17296	HGNC:17296	ribonucleotide reductase regulatory TP53 inducible subunit M2B	This gene encodes the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates. The product of this reaction is necessary for DNA synthesis. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinal encephalopathy. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	RSPH1	http://identifiers.org/ncbigene/89765	89765	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12371	HGNC:12371	radial spoke head component 1	This gene encodes a male meiotic metaphase chromosome-associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in this gene result in primary ciliary dyskinesia-24. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	RSPH3	http://identifiers.org/ncbigene/83861	83861	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21054	HGNC:21054	radial spoke head 3	The protein encoded by this gene acts as a protein kinase A anchoring protein. Mutations in this gene cause primary ciliary dyskinesia; a disorder characterized by defects of the axoneme in motile cilia and sperm flagella. The homolog of this gene was first identified in the blue-green algae Chlamydomonas as encoding a radial spoke protein that formed a structural component of motile cilia and flagella. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	RSPH4A	http://identifiers.org/ncbigene/345895	345895	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21558	HGNC:21558	radial spoke head component 4A	This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2200203	NANDO:2200203	RSPH4A	http://identifiers.org/ncbigene/345895	345895	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21558	HGNC:21558	radial spoke head component 4A	This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	RSPH9	http://identifiers.org/ncbigene/221421	221421	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21057	HGNC:21057	radial spoke head component 9	This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_2200203	NANDO:2200203	RSPH9	http://identifiers.org/ncbigene/221421	221421	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21057	HGNC:21057	radial spoke head component 9	This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_2200393	NANDO:2200393	RSPO1	http://identifiers.org/ncbigene/284654	284654	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21679	HGNC:21679	R-spondin 1	This gene encodes a secreted activator protein with two cysteine-rich, furin-like domains and one thrombospondin type 1 domain. The encoded protein is a ligand for leucine-rich repeat-containing G-protein coupled receptors (LGR proteins) and positively regulates the Wnt signaling pathway. In mice, the protein induces the rapid onset of crypt cell proliferation and increases intestinal epithelial healing, providing a protective effect against chemotherapy-induced adverse effects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
http://nanbyodata.jp/ontology/NANDO_2200001	NANDO:2200001	RUNX1	http://identifiers.org/ncbigene/861	861	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10471	HGNC:10471	RUNX family transcription factor 1	Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200004	NANDO:2200004	RUNX1	http://identifiers.org/ncbigene/861	861	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10471	HGNC:10471	RUNX family transcription factor 1	Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200005	NANDO:2200005	RUNX1	http://identifiers.org/ncbigene/861	861	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10471	HGNC:10471	RUNX family transcription factor 1	Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200006	NANDO:2200006	RUNX1	http://identifiers.org/ncbigene/861	861	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10471	HGNC:10471	RUNX family transcription factor 1	Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200007	NANDO:2200007	RUNX1	http://identifiers.org/ncbigene/861	861	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10471	HGNC:10471	RUNX family transcription factor 1	Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200008	NANDO:2200008	RUNX1	http://identifiers.org/ncbigene/861	861	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10471	HGNC:10471	RUNX family transcription factor 1	Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200009	NANDO:2200009	RUNX1	http://identifiers.org/ncbigene/861	861	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10471	HGNC:10471	RUNX family transcription factor 1	Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200010	NANDO:2200010	RUNX1	http://identifiers.org/ncbigene/861	861	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10471	HGNC:10471	RUNX family transcription factor 1	Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200011	NANDO:2200011	RUNX1	http://identifiers.org/ncbigene/861	861	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10471	HGNC:10471	RUNX family transcription factor 1	Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200014	NANDO:2200014	RUNX1	http://identifiers.org/ncbigene/861	861	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10471	HGNC:10471	RUNX family transcription factor 1	Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200019	NANDO:2200019	RUNX1	http://identifiers.org/ncbigene/861	861	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10471	HGNC:10471	RUNX family transcription factor 1	Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200659	NANDO:2200659	RUNX1	http://identifiers.org/ncbigene/861	861	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10471	HGNC:10471	RUNX family transcription factor 1	Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200662	NANDO:2200662	RUNX1	http://identifiers.org/ncbigene/861	861	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10471	HGNC:10471	RUNX family transcription factor 1	Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200004	NANDO:2200004	RUNX1T1	http://identifiers.org/ncbigene/862	862	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1535	HGNC:1535	RUNX1 partner transcriptional co-repressor 1	This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
http://nanbyodata.jp/ontology/NANDO_2200005	NANDO:2200005	RUNX1T1	http://identifiers.org/ncbigene/862	862	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1535	HGNC:1535	RUNX1 partner transcriptional co-repressor 1	This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
http://nanbyodata.jp/ontology/NANDO_2200006	NANDO:2200006	RUNX1T1	http://identifiers.org/ncbigene/862	862	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1535	HGNC:1535	RUNX1 partner transcriptional co-repressor 1	This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
http://nanbyodata.jp/ontology/NANDO_2200007	NANDO:2200007	RUNX1T1	http://identifiers.org/ncbigene/862	862	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1535	HGNC:1535	RUNX1 partner transcriptional co-repressor 1	This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
http://nanbyodata.jp/ontology/NANDO_2200008	NANDO:2200008	RUNX1T1	http://identifiers.org/ncbigene/862	862	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1535	HGNC:1535	RUNX1 partner transcriptional co-repressor 1	This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
http://nanbyodata.jp/ontology/NANDO_2200009	NANDO:2200009	RUNX1T1	http://identifiers.org/ncbigene/862	862	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1535	HGNC:1535	RUNX1 partner transcriptional co-repressor 1	This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
http://nanbyodata.jp/ontology/NANDO_2200010	NANDO:2200010	RUNX1T1	http://identifiers.org/ncbigene/862	862	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1535	HGNC:1535	RUNX1 partner transcriptional co-repressor 1	This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
http://nanbyodata.jp/ontology/NANDO_2200011	NANDO:2200011	RUNX1T1	http://identifiers.org/ncbigene/862	862	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1535	HGNC:1535	RUNX1 partner transcriptional co-repressor 1	This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
http://nanbyodata.jp/ontology/NANDO_2200019	NANDO:2200019	RUNX1T1	http://identifiers.org/ncbigene/862	862	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1535	HGNC:1535	RUNX1 partner transcriptional co-repressor 1	This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	RXYLT1	http://identifiers.org/ncbigene/10329	10329	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13530	HGNC:13530	ribitol xylosyltransferase 1	This gene encodes a type II transmembrane protein that is thought to have glycosyltransferase function. Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
http://nanbyodata.jp/ontology/NANDO_1200477	NANDO:1200477	RYR1	http://identifiers.org/ncbigene/6261	6261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10483	HGNC:10483	ryanodine receptor 1	This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200479	NANDO:1200479	RYR1	http://identifiers.org/ncbigene/6261	6261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10483	HGNC:10483	ryanodine receptor 1	This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200480	NANDO:1200480	RYR1	http://identifiers.org/ncbigene/6261	6261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10483	HGNC:10483	ryanodine receptor 1	This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200481	NANDO:1200481	RYR1	http://identifiers.org/ncbigene/6261	6261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10483	HGNC:10483	ryanodine receptor 1	This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200482	NANDO:1200482	RYR1	http://identifiers.org/ncbigene/6261	6261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10483	HGNC:10483	ryanodine receptor 1	This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200483	NANDO:1200483	RYR1	http://identifiers.org/ncbigene/6261	6261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10483	HGNC:10483	ryanodine receptor 1	This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	RYR1	http://identifiers.org/ncbigene/6261	6261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10483	HGNC:10483	ryanodine receptor 1	This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200867	NANDO:2200867	RYR1	http://identifiers.org/ncbigene/6261	6261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10483	HGNC:10483	ryanodine receptor 1	This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200868	NANDO:2200868	RYR1	http://identifiers.org/ncbigene/6261	6261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10483	HGNC:10483	ryanodine receptor 1	This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200870	NANDO:2200870	RYR1	http://identifiers.org/ncbigene/6261	6261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10483	HGNC:10483	ryanodine receptor 1	This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200871	NANDO:2200871	RYR1	http://identifiers.org/ncbigene/6261	6261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10483	HGNC:10483	ryanodine receptor 1	This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200872	NANDO:2200872	RYR1	http://identifiers.org/ncbigene/6261	6261	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10483	HGNC:10483	ryanodine receptor 1	This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200671	NANDO:1200671	RecQL4	http://identifiers.org/ncbigene/9401	9401	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9949	HGNC:9949	RecQ like helicase 4	The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_2200221	NANDO:2200221	RyR2	http://identifiers.org/ncbigene/6262	6262	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10484	HGNC:10484	ryanodine receptor 2	This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200227	NANDO:2200227	RyR2	http://identifiers.org/ncbigene/6262	6262	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10484	HGNC:10484	ryanodine receptor 2	This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	SACS	http://identifiers.org/ncbigene/26278	26278	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10519	HGNC:10519	sacsin molecular chaperone	"This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that ""the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins"" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]"
http://nanbyodata.jp/ontology/NANDO_2200882	NANDO:2200882	SACS	http://identifiers.org/ncbigene/26278	26278	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10519	HGNC:10519	sacsin molecular chaperone	"This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that ""the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins"" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]"
http://nanbyodata.jp/ontology/NANDO_1200675	NANDO:1200675	SALL1	http://identifiers.org/ncbigene/6299	6299	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10524	HGNC:10524	spalt like transcription factor 1	The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201391	NANDO:2201391	SALL1	http://identifiers.org/ncbigene/6299	6299	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10524	HGNC:10524	spalt like transcription factor 1	The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200019	NANDO:2200019	SAMD9	http://identifiers.org/ncbigene/54809	54809	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1348	HGNC:1348	sterile alpha motif domain containing 9	This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this gene are the cause of normophosphatemic familial tumoral calcinosis. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_2200019	NANDO:2200019	SAMD9L	http://identifiers.org/ncbigene/219285	219285	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1349	HGNC:1349	sterile alpha motif domain containing 9 like	This gene encodes a cytoplasmic protein that acts as a tumor suppressor but also plays a key role in cell proliferation and the innate immune response to viral infection. The encoded protein contains an N-terminal sterile alpha motif domain. Naturally occurring mutations in this gene are associated with myeloid disorders such as juvenile myelomonocytic leukemia, acute myeloid leukemia, and myelodysplastic syndrome. Naturally occurring mutations are also associated with hepatitis-B related hepatocellular carcinoma, normophosphatemic familial tumoral calcinosis, and ataxia-pancytopenia syndrome. [provided by RefSeq, Apr 2017]
http://nanbyodata.jp/ontology/NANDO_1200993	NANDO:1200993	SAMHD1	http://identifiers.org/ncbigene/25939	25939	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15925	HGNC:15925	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200996	NANDO:1200996	SAMHD1	http://identifiers.org/ncbigene/25939	25939	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15925	HGNC:15925	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	SAMHD1	http://identifiers.org/ncbigene/25939	25939	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15925	HGNC:15925	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200893	NANDO:2200893	SAMHD1	http://identifiers.org/ncbigene/25939	25939	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15925	HGNC:15925	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200897	NANDO:2200897	SAMHD1	http://identifiers.org/ncbigene/25939	25939	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15925	HGNC:15925	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200882	NANDO:2200882	SAR1B	http://identifiers.org/ncbigene/51128	51128	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10535	HGNC:10535	secretion associated Ras related GTPase 1B	The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	SBDS	http://identifiers.org/ncbigene/51119	51119	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19440	HGNC:19440	SBDS ribosome maturation factor	This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017]
http://nanbyodata.jp/ontology/NANDO_1200356	NANDO:1200356	SBDS	http://identifiers.org/ncbigene/51119	51119	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19440	HGNC:19440	SBDS ribosome maturation factor	This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017]
http://nanbyodata.jp/ontology/NANDO_2200756	NANDO:2200756	SBDS	http://identifiers.org/ncbigene/51119	51119	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19440	HGNC:19440	SBDS ribosome maturation factor	This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	SBF1	http://identifiers.org/ncbigene/6305	6305	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10542	HGNC:10542	SET binding factor 1	This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	SBF2	http://identifiers.org/ncbigene/81846	81846	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2135	HGNC:2135	SET binding factor 2	This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200855	NANDO:2200855	SBF2	http://identifiers.org/ncbigene/81846	81846	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2135	HGNC:2135	SET binding factor 2	This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200587	NANDO:1200587	SCN1A	http://identifiers.org/ncbigene/6323	6323	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10585	HGNC:10585	sodium voltage-gated channel alpha subunit 1	Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200595	NANDO:1200595	SCN1A	http://identifiers.org/ncbigene/6323	6323	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10585	HGNC:10585	sodium voltage-gated channel alpha subunit 1	Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200596	NANDO:1200596	SCN1A	http://identifiers.org/ncbigene/6323	6323	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10585	HGNC:10585	sodium voltage-gated channel alpha subunit 1	Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_2200877	NANDO:2200877	SCN1A	http://identifiers.org/ncbigene/6323	6323	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10585	HGNC:10585	sodium voltage-gated channel alpha subunit 1	Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_2201403	NANDO:2201403	SCN1A	http://identifiers.org/ncbigene/6323	6323	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10585	HGNC:10585	sodium voltage-gated channel alpha subunit 1	Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_2201408	NANDO:2201408	SCN1A	http://identifiers.org/ncbigene/6323	6323	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10585	HGNC:10585	sodium voltage-gated channel alpha subunit 1	Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200587	NANDO:1200587	SCN1B	http://identifiers.org/ncbigene/6324	6324	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10586	HGNC:10586	sodium voltage-gated channel beta subunit 1	Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_2200877	NANDO:2200877	SCN1B	http://identifiers.org/ncbigene/6324	6324	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10586	HGNC:10586	sodium voltage-gated channel beta subunit 1	Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200587	NANDO:1200587	SCN2A	http://identifiers.org/ncbigene/6326	6326	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10588	HGNC:10588	sodium voltage-gated channel alpha subunit 2	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
http://nanbyodata.jp/ontology/NANDO_1200593	NANDO:1200593	SCN2A	http://identifiers.org/ncbigene/6326	6326	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10588	HGNC:10588	sodium voltage-gated channel alpha subunit 2	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
http://nanbyodata.jp/ontology/NANDO_1200595	NANDO:1200595	SCN2A	http://identifiers.org/ncbigene/6326	6326	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10588	HGNC:10588	sodium voltage-gated channel alpha subunit 2	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
http://nanbyodata.jp/ontology/NANDO_2200877	NANDO:2200877	SCN2A	http://identifiers.org/ncbigene/6326	6326	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10588	HGNC:10588	sodium voltage-gated channel alpha subunit 2	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
http://nanbyodata.jp/ontology/NANDO_2201398	NANDO:2201398	SCN2A	http://identifiers.org/ncbigene/6326	6326	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10588	HGNC:10588	sodium voltage-gated channel alpha subunit 2	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
http://nanbyodata.jp/ontology/NANDO_2201408	NANDO:2201408	SCN2A	http://identifiers.org/ncbigene/6326	6326	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10588	HGNC:10588	sodium voltage-gated channel alpha subunit 2	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
http://nanbyodata.jp/ontology/NANDO_2200227	NANDO:2200227	SCN3B	http://identifiers.org/ncbigene/55800	55800	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20665	HGNC:20665	sodium voltage-gated channel beta subunit 3	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200021	NANDO:1200021	SCN4A	http://identifiers.org/ncbigene/6329	6329	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10591	HGNC:10591	sodium voltage-gated channel alpha subunit 4	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200496	NANDO:1200496	SCN4A	http://identifiers.org/ncbigene/6329	6329	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10591	HGNC:10591	sodium voltage-gated channel alpha subunit 4	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200500	NANDO:1200500	SCN4A	http://identifiers.org/ncbigene/6329	6329	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10591	HGNC:10591	sodium voltage-gated channel alpha subunit 4	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200501	NANDO:1200501	SCN4A	http://identifiers.org/ncbigene/6329	6329	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10591	HGNC:10591	sodium voltage-gated channel alpha subunit 4	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200502	NANDO:1200502	SCN4A	http://identifiers.org/ncbigene/6329	6329	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10591	HGNC:10591	sodium voltage-gated channel alpha subunit 4	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200503	NANDO:1200503	SCN4A	http://identifiers.org/ncbigene/6329	6329	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10591	HGNC:10591	sodium voltage-gated channel alpha subunit 4	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200504	NANDO:1200504	SCN4A	http://identifiers.org/ncbigene/6329	6329	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10591	HGNC:10591	sodium voltage-gated channel alpha subunit 4	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201508	NANDO:2201508	SCN4A	http://identifiers.org/ncbigene/6329	6329	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10591	HGNC:10591	sodium voltage-gated channel alpha subunit 4	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201512	NANDO:2201512	SCN4A	http://identifiers.org/ncbigene/6329	6329	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10591	HGNC:10591	sodium voltage-gated channel alpha subunit 4	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201513	NANDO:2201513	SCN4A	http://identifiers.org/ncbigene/6329	6329	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10591	HGNC:10591	sodium voltage-gated channel alpha subunit 4	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201514	NANDO:2201514	SCN4A	http://identifiers.org/ncbigene/6329	6329	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10591	HGNC:10591	sodium voltage-gated channel alpha subunit 4	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201515	NANDO:2201515	SCN4A	http://identifiers.org/ncbigene/6329	6329	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10591	HGNC:10591	sodium voltage-gated channel alpha subunit 4	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200228	NANDO:2200228	SCN4B	http://identifiers.org/ncbigene/6330	6330	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10592	HGNC:10592	sodium voltage-gated channel beta subunit 4	The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10). Three protein-coding and one non-coding transcript variant have been found for this gene.[provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2200212	NANDO:2200212	SCN5A	http://identifiers.org/ncbigene/6331	6331	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10593	HGNC:10593	sodium voltage-gated channel alpha subunit 5	The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200214	NANDO:2200214	SCN5A	http://identifiers.org/ncbigene/6331	6331	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10593	HGNC:10593	sodium voltage-gated channel alpha subunit 5	The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200215	NANDO:2200215	SCN5A	http://identifiers.org/ncbigene/6331	6331	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10593	HGNC:10593	sodium voltage-gated channel alpha subunit 5	The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200227	NANDO:2200227	SCN5A	http://identifiers.org/ncbigene/6331	6331	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10593	HGNC:10593	sodium voltage-gated channel alpha subunit 5	The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200228	NANDO:2200228	SCN5A	http://identifiers.org/ncbigene/6331	6331	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10593	HGNC:10593	sodium voltage-gated channel alpha subunit 5	The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200591	NANDO:1200591	SCN8A	http://identifiers.org/ncbigene/6334	6334	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10596	HGNC:10596	sodium voltage-gated channel alpha subunit 8	This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_1200595	NANDO:1200595	SCN8A	http://identifiers.org/ncbigene/6334	6334	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10596	HGNC:10596	sodium voltage-gated channel alpha subunit 8	This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2201408	NANDO:2201408	SCN8A	http://identifiers.org/ncbigene/6334	6334	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10596	HGNC:10596	sodium voltage-gated channel alpha subunit 8	This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_1200553	NANDO:1200553	SCN9A	http://identifiers.org/ncbigene/6335	6335	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10597	HGNC:10597	sodium voltage-gated channel alpha subunit 9	This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_2200367	NANDO:2200367	SCNN1A	http://identifiers.org/ncbigene/6337	6337	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10599	HGNC:10599	sodium channel epithelial 1 subunit alpha	Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]
http://nanbyodata.jp/ontology/NANDO_2200368	NANDO:2200368	SCNN1A	http://identifiers.org/ncbigene/6337	6337	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10599	HGNC:10599	sodium channel epithelial 1 subunit alpha	Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]
http://nanbyodata.jp/ontology/NANDO_2200363	NANDO:2200363	SCNN1B	http://identifiers.org/ncbigene/6338	6338	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10600	HGNC:10600	sodium channel epithelial 1 subunit beta	Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]
http://nanbyodata.jp/ontology/NANDO_2200367	NANDO:2200367	SCNN1B	http://identifiers.org/ncbigene/6338	6338	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10600	HGNC:10600	sodium channel epithelial 1 subunit beta	Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]
http://nanbyodata.jp/ontology/NANDO_2200368	NANDO:2200368	SCNN1B	http://identifiers.org/ncbigene/6338	6338	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10600	HGNC:10600	sodium channel epithelial 1 subunit beta	Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]
http://nanbyodata.jp/ontology/NANDO_2200363	NANDO:2200363	SCNN1G	http://identifiers.org/ncbigene/6340	6340	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10602	HGNC:10602	sodium channel epithelial 1 subunit gamma	Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the gamma subunit, and mutations in this gene have been associated with Liddle syndrome. [provided by RefSeq, Apr 2009]
http://nanbyodata.jp/ontology/NANDO_2200367	NANDO:2200367	SCNN1G	http://identifiers.org/ncbigene/6340	6340	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10602	HGNC:10602	sodium channel epithelial 1 subunit gamma	Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the gamma subunit, and mutations in this gene have been associated with Liddle syndrome. [provided by RefSeq, Apr 2009]
http://nanbyodata.jp/ontology/NANDO_2200368	NANDO:2200368	SCNN1G	http://identifiers.org/ncbigene/6340	6340	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10602	HGNC:10602	sodium channel epithelial 1 subunit gamma	Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the gamma subunit, and mutations in this gene have been associated with Liddle syndrome. [provided by RefSeq, Apr 2009]
http://nanbyodata.jp/ontology/NANDO_1200758	NANDO:1200758	SCP2	http://identifiers.org/ncbigene/6342	6342	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10606	HGNC:10606	sterol carrier protein 2	This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently regulated promoters. The transcript initiated from the proximal promoter encodes the longer SCPx protein, and the transcript initiated from the distal promoter encodes the shorter SCP2 protein, with the 2 proteins sharing a common C-terminus. Evidence suggests that the SCPx protein is a peroxisome-associated thiolase that is involved in the oxidation of branched chain fatty acids, while the SCP2 protein is thought to be an intracellular lipid transfer protein. This gene is highly expressed in organs involved in lipid metabolism, and may play a role in Zellweger syndrome, in which cells are deficient in peroxisomes and have impaired bile acid synthesis. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms.[provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_1200764	NANDO:1200764	SCP2	http://identifiers.org/ncbigene/6342	6342	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10606	HGNC:10606	sterol carrier protein 2	This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently regulated promoters. The transcript initiated from the proximal promoter encodes the longer SCPx protein, and the transcript initiated from the distal promoter encodes the shorter SCP2 protein, with the 2 proteins sharing a common C-terminus. Evidence suggests that the SCPx protein is a peroxisome-associated thiolase that is involved in the oxidation of branched chain fatty acids, while the SCP2 protein is thought to be an intracellular lipid transfer protein. This gene is highly expressed in organs involved in lipid metabolism, and may play a role in Zellweger syndrome, in which cells are deficient in peroxisomes and have impaired bile acid synthesis. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms.[provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_1200767	NANDO:1200767	SCP2	http://identifiers.org/ncbigene/6342	6342	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10606	HGNC:10606	sterol carrier protein 2	This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently regulated promoters. The transcript initiated from the proximal promoter encodes the longer SCPx protein, and the transcript initiated from the distal promoter encodes the shorter SCP2 protein, with the 2 proteins sharing a common C-terminus. Evidence suggests that the SCPx protein is a peroxisome-associated thiolase that is involved in the oxidation of branched chain fatty acids, while the SCP2 protein is thought to be an intracellular lipid transfer protein. This gene is highly expressed in organs involved in lipid metabolism, and may play a role in Zellweger syndrome, in which cells are deficient in peroxisomes and have impaired bile acid synthesis. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms.[provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	SDCCAG8	http://identifiers.org/ncbigene/10806	10806	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10671	HGNC:10671	SHH signaling and ciliogenesis regulator SDCCAG8	This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_2200140	NANDO:2200140	SDCCAG8	http://identifiers.org/ncbigene/10806	10806	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10671	HGNC:10671	SHH signaling and ciliogenesis regulator SDCCAG8	This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_2200078	NANDO:2200078	SDHB	http://identifiers.org/ncbigene/6390	6390	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10681	HGNC:10681	succinate dehydrogenase complex iron sulfur subunit B	Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200078	NANDO:2200078	SDHD	http://identifiers.org/ncbigene/6392	6392	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10683	HGNC:10683	succinate dehydrogenase complex subunit D	This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
http://nanbyodata.jp/ontology/NANDO_1200885	NANDO:1200885	SEC23B	http://identifiers.org/ncbigene/10483	10483	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10702	HGNC:10702	SEC23 homolog B, COPII coat complex component	The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1200887	NANDO:1200887	SEC23B	http://identifiers.org/ncbigene/10483	10483	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10702	HGNC:10702	SEC23 homolog B, COPII coat complex component	The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2201386	NANDO:2201386	SEC61A1	http://identifiers.org/ncbigene/29927	29927	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18276	HGNC:18276	SEC61 translocon subunit alpha 1	The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201390	NANDO:2201390	SEC61A1	http://identifiers.org/ncbigene/29927	29927	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18276	HGNC:18276	SEC61 translocon subunit alpha 1	The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200477	NANDO:1200477	SELENON	http://identifiers.org/ncbigene/57190	57190	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15999	HGNC:15999	selenoprotein N	This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessive disorders, originally thought to be separate entities: rigid spine muscular dystrophy (RSMD1), the classical form of multiminicore disease, desmin related myopathy with Mallory-body like inclusions, and congenital fiber-type disproportion (CFTD). This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_1200479	NANDO:1200479	SELENON	http://identifiers.org/ncbigene/57190	57190	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15999	HGNC:15999	selenoprotein N	This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessive disorders, originally thought to be separate entities: rigid spine muscular dystrophy (RSMD1), the classical form of multiminicore disease, desmin related myopathy with Mallory-body like inclusions, and congenital fiber-type disproportion (CFTD). This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_1200480	NANDO:1200480	SELENON	http://identifiers.org/ncbigene/57190	57190	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15999	HGNC:15999	selenoprotein N	This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessive disorders, originally thought to be separate entities: rigid spine muscular dystrophy (RSMD1), the classical form of multiminicore disease, desmin related myopathy with Mallory-body like inclusions, and congenital fiber-type disproportion (CFTD). This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	SELENON	http://identifiers.org/ncbigene/57190	57190	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15999	HGNC:15999	selenoprotein N	This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessive disorders, originally thought to be separate entities: rigid spine muscular dystrophy (RSMD1), the classical form of multiminicore disease, desmin related myopathy with Mallory-body like inclusions, and congenital fiber-type disproportion (CFTD). This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_2200871	NANDO:2200871	SELENON	http://identifiers.org/ncbigene/57190	57190	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15999	HGNC:15999	selenoprotein N	This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessive disorders, originally thought to be separate entities: rigid spine muscular dystrophy (RSMD1), the classical form of multiminicore disease, desmin related myopathy with Mallory-body like inclusions, and congenital fiber-type disproportion (CFTD). This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_1200755	NANDO:1200755	SERPINA1	http://identifiers.org/ncbigene/5265	5265	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8941	HGNC:8941	serpin family A member 1	The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow, by lymphocytic and monocytic cells in lymphoid tissue, and by the Paneth cells of the gut. Defects in this gene are associated with chronic obstructive pulmonary disease, emphysema, and chronic liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_2200611	NANDO:2200611	SERPINA1	http://identifiers.org/ncbigene/5265	5265	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8941	HGNC:8941	serpin family A member 1	The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow, by lymphocytic and monocytic cells in lymphoid tissue, and by the Paneth cells of the gut. Defects in this gene are associated with chronic obstructive pulmonary disease, emphysema, and chronic liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_1200999	NANDO:1200999	SERPINC1	http://identifiers.org/ncbigene/462	462	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:775	HGNC:775	serpin family C member 1	The protein encoded by this gene, antithrombin III, is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. Numerous mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency which constitutes a strong risk factor for thrombosis. A reduction in the serum level of this protein is associated with severe cases of Coronavirus Disease 19 (COVID-19). [provided by RefSeq, Sep 2020]
http://nanbyodata.jp/ontology/NANDO_1201082	NANDO:1201082	SERPINC1	http://identifiers.org/ncbigene/462	462	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:775	HGNC:775	serpin family C member 1	The protein encoded by this gene, antithrombin III, is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. Numerous mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency which constitutes a strong risk factor for thrombosis. A reduction in the serum level of this protein is associated with severe cases of Coronavirus Disease 19 (COVID-19). [provided by RefSeq, Sep 2020]
http://nanbyodata.jp/ontology/NANDO_2200691	NANDO:2200691	SERPINC1	http://identifiers.org/ncbigene/462	462	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:775	HGNC:775	serpin family C member 1	The protein encoded by this gene, antithrombin III, is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. Numerous mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency which constitutes a strong risk factor for thrombosis. A reduction in the serum level of this protein is associated with severe cases of Coronavirus Disease 19 (COVID-19). [provided by RefSeq, Sep 2020]
http://nanbyodata.jp/ontology/NANDO_1201112	NANDO:1201112	SERPINE1	http://identifiers.org/ncbigene/5054	5054	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8583	HGNC:8583	serpin family E member 1	This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. The protein also functions as a component of innate antiviral immunity. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_1201113	NANDO:1201113	SERPINE1	http://identifiers.org/ncbigene/5054	5054	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8583	HGNC:8583	serpin family E member 1	This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. The protein also functions as a component of innate antiviral immunity. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_1200873	NANDO:1200873	SERPINF1	http://identifiers.org/ncbigene/5176	5176	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8824	HGNC:8824	serpin family F member 1	This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI. [provided by RefSeq, Aug 2016]
http://nanbyodata.jp/ontology/NANDO_2201011	NANDO:2201011	SERPINF1	http://identifiers.org/ncbigene/5176	5176	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8824	HGNC:8824	serpin family F member 1	This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI. [provided by RefSeq, Aug 2016]
http://nanbyodata.jp/ontology/NANDO_1201112	NANDO:1201112	SERPINF2	http://identifiers.org/ncbigene/5345	5345	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9075	HGNC:9075	serpin family F member 2	This gene encodes a member of the serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1201114	NANDO:1201114	SERPINF2	http://identifiers.org/ncbigene/5345	5345	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9075	HGNC:9075	serpin family F member 2	This gene encodes a member of the serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200873	NANDO:1200873	SERPINH1	http://identifiers.org/ncbigene/871	871	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1546	HGNC:1546	serpin family H member 1	This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]
http://nanbyodata.jp/ontology/NANDO_2201011	NANDO:2201011	SERPINH1	http://identifiers.org/ncbigene/871	871	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1546	HGNC:1546	serpin family H member 1	This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	SETX	http://identifiers.org/ncbigene/23064	23064	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:445	HGNC:445	senataxin	This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200882	NANDO:2200882	SETX	http://identifiers.org/ncbigene/23064	23064	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:445	HGNC:445	senataxin	This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200357	NANDO:2200357	SF1	http://identifiers.org/ncbigene/7536	7536	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12950	HGNC:12950	splicing factor 1	This gene encodes a nuclear pre-mRNA splicing factor. The encoded protein specifically recognizes the intron branch point sequence at the 3' splice site, together with the large subunit of U2 auxiliary factor (U2AF), and is required for the early stages of spliceosome assembly. It also plays a role in nuclear pre-mRNA retention and transcriptional repression. The encoded protein contains an N-terminal U2AF ligand motif, a central hnRNP K homology motif and quaking 2 region which bind a key branch-site adenosine within the branch point sequence, a zinc knuckles domain, and a C-terminal proline-rich domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
http://nanbyodata.jp/ontology/NANDO_1200746	NANDO:1200746	SFTPB	http://identifiers.org/ncbigene/6439	6439	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10801	HGNC:10801	surfactant protein B	This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1200750	NANDO:1200750	SFTPB	http://identifiers.org/ncbigene/6439	6439	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10801	HGNC:10801	surfactant protein B	This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2200199	NANDO:2200199	SFTPB	http://identifiers.org/ncbigene/6439	6439	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10801	HGNC:10801	surfactant protein B	This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2200200	NANDO:2200200	SFTPB	http://identifiers.org/ncbigene/6439	6439	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10801	HGNC:10801	surfactant protein B	This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1200746	NANDO:1200746	SFTPC	http://identifiers.org/ncbigene/6440	6440	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10802	HGNC:10802	surfactant protein C	This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1200750	NANDO:1200750	SFTPC	http://identifiers.org/ncbigene/6440	6440	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10802	HGNC:10802	surfactant protein C	This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2200199	NANDO:2200199	SFTPC	http://identifiers.org/ncbigene/6440	6440	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10802	HGNC:10802	surfactant protein C	This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2200200	NANDO:2200200	SFTPC	http://identifiers.org/ncbigene/6440	6440	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10802	HGNC:10802	surfactant protein C	This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2200201	NANDO:2200201	SFTPC	http://identifiers.org/ncbigene/6440	6440	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10802	HGNC:10802	surfactant protein C	This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	SGCA	http://identifiers.org/ncbigene/6442	6442	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10805	HGNC:10805	sarcoglycan alpha	This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	SGCB	http://identifiers.org/ncbigene/6443	6443	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10806	HGNC:10806	sarcoglycan beta	This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	SGCD	http://identifiers.org/ncbigene/6444	6444	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10807	HGNC:10807	sarcoglycan delta	The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	SGCE	http://identifiers.org/ncbigene/8910	8910	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10808	HGNC:10808	sarcoglycan epsilon	This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016]
http://nanbyodata.jp/ontology/NANDO_1200522	NANDO:1200522	SGCE	http://identifiers.org/ncbigene/8910	8910	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10808	HGNC:10808	sarcoglycan epsilon	This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	SGCG	http://identifiers.org/ncbigene/6445	6445	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10809	HGNC:10809	sarcoglycan gamma	This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	SGSH	http://identifiers.org/ncbigene/6448	6448	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10818	HGNC:10818	N-sulfoglucosamine sulfohydrolase	This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jun 2017]
http://nanbyodata.jp/ontology/NANDO_1200100	NANDO:1200100	SGSH	http://identifiers.org/ncbigene/6448	6448	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10818	HGNC:10818	N-sulfoglucosamine sulfohydrolase	This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jun 2017]
http://nanbyodata.jp/ontology/NANDO_1200101	NANDO:1200101	SGSH	http://identifiers.org/ncbigene/6448	6448	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10818	HGNC:10818	N-sulfoglucosamine sulfohydrolase	This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jun 2017]
http://nanbyodata.jp/ontology/NANDO_2200549	NANDO:2200549	SGSH	http://identifiers.org/ncbigene/6448	6448	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10818	HGNC:10818	N-sulfoglucosamine sulfohydrolase	This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jun 2017]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	SH2D1A	http://identifiers.org/ncbigene/4068	4068	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10820	HGNC:10820	SH2 domain containing 1A	This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200351	NANDO:1200351	SH2D1A	http://identifiers.org/ncbigene/4068	4068	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10820	HGNC:10820	SH2 domain containing 1A	This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200725	NANDO:2200725	SH2D1A	http://identifiers.org/ncbigene/4068	4068	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10820	HGNC:10820	SH2 domain containing 1A	This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200440	NANDO:2200440	SH3BP2	http://identifiers.org/ncbigene/6452	6452	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10825	HGNC:10825	SH3 domain binding protein 2	The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2200444	NANDO:2200444	SH3BP2	http://identifiers.org/ncbigene/6452	6452	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10825	HGNC:10825	SH3 domain binding protein 2	The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	SH3TC2	http://identifiers.org/ncbigene/79628	79628	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29427	HGNC:29427	SH3 domain and tetratricopeptide repeats 2	This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200855	NANDO:2200855	SH3TC2	http://identifiers.org/ncbigene/79628	79628	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29427	HGNC:29427	SH3 domain and tetratricopeptide repeats 2	This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200819	NANDO:2200819	SHH	http://identifiers.org/ncbigene/6469	6469	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10848	HGNC:10848	sonic hedgehog signaling molecule	This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila, this protein is the most similar. The protein is made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the developing embryo. Defects in this protein or in its signalling pathway are a cause of holoprosencephaly (HPE), a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres. HPE is manifested by facial deformities. It is also thought that mutations in this gene or in its signalling pathway may be responsible for VACTERL syndrome, which is characterized by vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, cardiac anomalies, and limb abnormalities. Additionally, mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200680	NANDO:1200680	SHOC2	http://identifiers.org/ncbigene/8036	8036	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15454	HGNC:15454	SHOC2 leucine rich repeat scaffold protein	This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2200410	NANDO:2200410	SHOX	http://identifiers.org/ncbigene/6473	6473	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10853	HGNC:10853	short stature homeobox	This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200908	NANDO:2200908	SI	http://identifiers.org/ncbigene/6476	6476	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10856	HGNC:10856	sucrase-isomaltase	This gene encodes a sucrase-isomaltase enzyme that is expressed in the intestinal brush border. The encoded protein is synthesized as a precursor protein that is cleaved by pancreatic proteases into two enzymatic subunits sucrase and isomaltase. These two subunits heterodimerize to form the sucrose-isomaltase complex. This complex is essential for the digestion of dietary carbohydrates including starch, sucrose and isomaltose. Mutations in this gene are the cause of congenital sucrase-isomaltase deficiency.[provided by RefSeq, Apr 2010]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	SIGMAR1	http://identifiers.org/ncbigene/10280	10280	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8157	HGNC:8157	sigma non-opioid intracellular receptor 1	This gene encodes a receptor protein that interacts with a variety of psychotomimetic drugs, including cocaine and amphetamines. The receptor is believed to play an important role in the cellular functions of various tissues associated with the endocrine, immune, and nervous systems. As indicated by its previous name, opioid receptor sigma 1 (OPRS1), the product of this gene was erroneously thought to function as an opioid receptor; it is now thought to be a non-opioid receptor. Mutations in this gene has been associated with juvenile amyotrophic lateral sclerosis 16. Alternative splicing of this gene results in transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2013]
http://nanbyodata.jp/ontology/NANDO_1200594	NANDO:1200594	SIK1	http://identifiers.org/ncbigene/150094	150094	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11142	HGNC:11142	salt inducible kinase 1	This gene encodes a serine/threonine protein kinase that contains a ubiquitin-associated (UBA) domain. The encoded protein is a member of the adenosine monophosphate-activated kinase (AMPK) subfamily of kinases that play a role in conserved signal transduction pathways. A mutation in this gene is associated with early infantile epileptic encephalopathy 30. [provided by RefSeq, Nov 2016]
http://nanbyodata.jp/ontology/NANDO_2201403	NANDO:2201403	SIK1	http://identifiers.org/ncbigene/150094	150094	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11142	HGNC:11142	salt inducible kinase 1	This gene encodes a serine/threonine protein kinase that contains a ubiquitin-associated (UBA) domain. The encoded protein is a member of the adenosine monophosphate-activated kinase (AMPK) subfamily of kinases that play a role in conserved signal transduction pathways. A mutation in this gene is associated with early infantile epileptic encephalopathy 30. [provided by RefSeq, Nov 2016]
http://nanbyodata.jp/ontology/NANDO_1200485	NANDO:1200485	SIL1	http://identifiers.org/ncbigene/64374	64374	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24624	HGNC:24624	SIL1 nucleotide exchange factor	This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200882	NANDO:2200882	SIL1	http://identifiers.org/ncbigene/64374	64374	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24624	HGNC:24624	SIL1 nucleotide exchange factor	This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200675	NANDO:1200675	SIX1	http://identifiers.org/ncbigene/6495	6495	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10887	HGNC:10887	SIX homeobox 1	The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201391	NANDO:2201391	SIX1	http://identifiers.org/ncbigene/6495	6495	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10887	HGNC:10887	SIX homeobox 1	The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200819	NANDO:2200819	SIX3	http://identifiers.org/ncbigene/6496	6496	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10889	HGNC:10889	SIX homeobox 3	This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200675	NANDO:1200675	SIX5	http://identifiers.org/ncbigene/147912	147912	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10891	HGNC:10891	SIX homeobox 5	The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009]
http://nanbyodata.jp/ontology/NANDO_2201391	NANDO:2201391	SIX5	http://identifiers.org/ncbigene/147912	147912	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10891	HGNC:10891	SIX homeobox 5	The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009]
http://nanbyodata.jp/ontology/NANDO_2200146	NANDO:2200146	SLC12A1	http://identifiers.org/ncbigene/6557	6557	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10910	HGNC:10910	solute carrier family 12 member 1	This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2200145	NANDO:2200145	SLC12A3	http://identifiers.org/ncbigene/6559	6559	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10912	HGNC:10912	solute carrier family 12 member 3	This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201408	NANDO:2201408	SLC12A5	http://identifiers.org/ncbigene/57468	57468	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13818	HGNC:13818	solute carrier family 12 member 5	K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	SLC12A6	http://identifiers.org/ncbigene/9990	9990	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10914	HGNC:10914	solute carrier family 12 member 6	This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200399	NANDO:2200399	SLC16A1	http://identifiers.org/ncbigene/6566	6566	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10922	HGNC:10922	solute carrier family 16 member 1	The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009]
http://nanbyodata.jp/ontology/NANDO_1200575	NANDO:1200575	SLC16A2	http://identifiers.org/ncbigene/6567	6567	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10923	HGNC:10923	solute carrier family 16 member 2	This gene encodes an integral membrane protein that functions as a transporter of thyroid hormone. The encoded protein facilitates the cellular importation of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine (T2). This gene is expressed in many tissues and likely plays an important role in the development of the central nervous system. Loss of function mutations in this gene are associated with psychomotor retardation in males while females exhibit no neurological defects and more moderate thyroid-deficient phenotypes. This gene is subject to X-chromosome inactivation. Mutations in this gene are the cause of Allan-Herndon-Dudley syndrome. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_1200580	NANDO:1200580	SLC16A2	http://identifiers.org/ncbigene/6567	6567	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10923	HGNC:10923	solute carrier family 16 member 2	This gene encodes an integral membrane protein that functions as a transporter of thyroid hormone. The encoded protein facilitates the cellular importation of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine (T2). This gene is expressed in many tissues and likely plays an important role in the development of the central nervous system. Loss of function mutations in this gene are associated with psychomotor retardation in males while females exhibit no neurological defects and more moderate thyroid-deficient phenotypes. This gene is subject to X-chromosome inactivation. Mutations in this gene are the cause of Allan-Herndon-Dudley syndrome. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_2200836	NANDO:2200836	SLC16A2	http://identifiers.org/ncbigene/6567	6567	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10923	HGNC:10923	solute carrier family 16 member 2	This gene encodes an integral membrane protein that functions as a transporter of thyroid hormone. The encoded protein facilitates the cellular importation of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine (T2). This gene is expressed in many tissues and likely plays an important role in the development of the central nervous system. Loss of function mutations in this gene are associated with psychomotor retardation in males while females exhibit no neurological defects and more moderate thyroid-deficient phenotypes. This gene is subject to X-chromosome inactivation. Mutations in this gene are the cause of Allan-Herndon-Dudley syndrome. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_2200589	NANDO:2200589	SLC17A3	http://identifiers.org/ncbigene/10786	10786	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10931	HGNC:10931	solute carrier family 17 member 3	The protein encoded by this gene is a voltage-driven transporter that excretes intracellular urate and organic anions from the blood into renal tubule cells. Two transcript variants encoding different isoforms have been found for this gene. The longer isoform is a plasma membrane protein with transporter activity while the shorter isoform localizes to the endoplasmic reticulum. [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	SLC17A5	http://identifiers.org/ncbigene/26503	26503	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10933	HGNC:10933	solute carrier family 17 member 5	This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200146	NANDO:1200146	SLC17A5	http://identifiers.org/ncbigene/26503	26503	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10933	HGNC:10933	solute carrier family 17 member 5	This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200575	NANDO:1200575	SLC17A5	http://identifiers.org/ncbigene/26503	26503	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10933	HGNC:10933	solute carrier family 17 member 5	This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200582	NANDO:1200582	SLC17A5	http://identifiers.org/ncbigene/26503	26503	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10933	HGNC:10933	solute carrier family 17 member 5	This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200572	NANDO:2200572	SLC17A5	http://identifiers.org/ncbigene/26503	26503	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10933	HGNC:10933	solute carrier family 17 member 5	This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200836	NANDO:2200836	SLC17A5	http://identifiers.org/ncbigene/26503	26503	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10933	HGNC:10933	solute carrier family 17 member 5	This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200892	NANDO:1200892	SLC19A2	http://identifiers.org/ncbigene/10560	10560	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10938	HGNC:10938	solute carrier family 19 member 2	This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_2200463	NANDO:2200463	SLC19A2	http://identifiers.org/ncbigene/10560	10560	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10938	HGNC:10938	solute carrier family 19 member 2	This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_2200616	NANDO:2200616	SLC19A2	http://identifiers.org/ncbigene/10560	10560	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10938	HGNC:10938	solute carrier family 19 member 2	This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_2201435	NANDO:2201435	SLC19A2	http://identifiers.org/ncbigene/10560	10560	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10938	HGNC:10938	solute carrier family 19 member 2	This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_2200888	NANDO:2200888	SLC19A3	http://identifiers.org/ncbigene/80704	80704	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16266	HGNC:16266	solute carrier family 19 member 3	This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild cognitive disability, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_1200207	NANDO:1200207	SLC20A2	http://identifiers.org/ncbigene/6575	6575	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10947	HGNC:10947	solute carrier family 20 member 2	This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protein also confers susceptibility to viral infection as a gamma-retroviral receptor. Mutations in this gene may play a role in familial idiopathic basal ganglia calcification. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_2200589	NANDO:2200589	SLC22A12	http://identifiers.org/ncbigene/116085	116085	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17989	HGNC:17989	solute carrier family 22 member 12	The protein encoded by this gene is a member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
http://nanbyodata.jp/ontology/NANDO_1200969	NANDO:1200969	SLC22A5	http://identifiers.org/ncbigene/6584	6584	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10969	HGNC:10969	solute carrier family 22 member 5	Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
http://nanbyodata.jp/ontology/NANDO_1200973	NANDO:1200973	SLC22A5	http://identifiers.org/ncbigene/6584	6584	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10969	HGNC:10969	solute carrier family 22 member 5	Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
http://nanbyodata.jp/ontology/NANDO_2200508	NANDO:2200508	SLC22A5	http://identifiers.org/ncbigene/6584	6584	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10969	HGNC:10969	solute carrier family 22 member 5	Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
http://nanbyodata.jp/ontology/NANDO_1200637	NANDO:1200637	SLC24A5	http://identifiers.org/ncbigene/283652	283652	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20611	HGNC:20611	solute carrier family 24 member 5	This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200641	NANDO:1200641	SLC24A5	http://identifiers.org/ncbigene/283652	283652	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20611	HGNC:20611	solute carrier family 24 member 5	This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200986	NANDO:2200986	SLC24A5	http://identifiers.org/ncbigene/283652	283652	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20611	HGNC:20611	solute carrier family 24 member 5	This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200021	NANDO:1200021	SLC25A1	http://identifiers.org/ncbigene/6576	6576	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10979	HGNC:10979	solute carrier family 25 member 1	This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the movement of citrate across the inner membranes of the mitochondria. Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this gene have been identified on chromosomes 7, 11, 16, and 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
http://nanbyodata.jp/ontology/NANDO_1200978	NANDO:1200978	SLC25A13	http://identifiers.org/ncbigene/10165	10165	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10983	HGNC:10983	solute carrier family 25 member 13	This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
http://nanbyodata.jp/ontology/NANDO_2200483	NANDO:2200483	SLC25A13	http://identifiers.org/ncbigene/10165	10165	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10983	HGNC:10983	solute carrier family 25 member 13	This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
http://nanbyodata.jp/ontology/NANDO_2200484	NANDO:2200484	SLC25A15	http://identifiers.org/ncbigene/10166	10166	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10985	HGNC:10985	solute carrier family 25 member 15	This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of this locus on the Y chromosome.[provided by RefSeq, May 2009]
http://nanbyodata.jp/ontology/NANDO_2200485	NANDO:2200485	SLC25A15	http://identifiers.org/ncbigene/10166	10166	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10985	HGNC:10985	solute carrier family 25 member 15	This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of this locus on the Y chromosome.[provided by RefSeq, May 2009]
http://nanbyodata.jp/ontology/NANDO_1200969	NANDO:1200969	SLC25A20	http://identifiers.org/ncbigene/788	788	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1421	HGNC:1421	solute carrier family 25 member 20	This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200972	NANDO:1200972	SLC25A20	http://identifiers.org/ncbigene/788	788	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1421	HGNC:1421	solute carrier family 25 member 20	This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200511	NANDO:2200511	SLC25A20	http://identifiers.org/ncbigene/788	788	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1421	HGNC:1421	solute carrier family 25 member 20	This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200594	NANDO:1200594	SLC25A22	http://identifiers.org/ncbigene/79751	79751	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19954	HGNC:19954	solute carrier family 25 member 22	This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_1200595	NANDO:1200595	SLC25A22	http://identifiers.org/ncbigene/79751	79751	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19954	HGNC:19954	solute carrier family 25 member 22	This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_2201403	NANDO:2201403	SLC25A22	http://identifiers.org/ncbigene/79751	79751	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19954	HGNC:19954	solute carrier family 25 member 22	This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_2201408	NANDO:2201408	SLC25A22	http://identifiers.org/ncbigene/79751	79751	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19954	HGNC:19954	solute carrier family 25 member 22	This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_1200892	NANDO:1200892	SLC25A38	http://identifiers.org/ncbigene/54977	54977	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26054	HGNC:26054	solute carrier family 25 member 38	This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia (anemia, sideroblastic, 2, pyridoxine-refractory). A related pseudogene is found on chromosome 1. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200616	NANDO:2200616	SLC25A38	http://identifiers.org/ncbigene/54977	54977	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26054	HGNC:26054	solute carrier family 25 member 38	This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia (anemia, sideroblastic, 2, pyridoxine-refractory). A related pseudogene is found on chromosome 1. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2201470	NANDO:2201470	SLC25A38	http://identifiers.org/ncbigene/54977	54977	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26054	HGNC:26054	solute carrier family 25 member 38	This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia (anemia, sideroblastic, 2, pyridoxine-refractory). A related pseudogene is found on chromosome 1. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200523	NANDO:2200523	SLC25A4	http://identifiers.org/ncbigene/291	291	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10990	HGNC:10990	solute carrier family 25 member 4	This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun 2013]
http://nanbyodata.jp/ontology/NANDO_2200506	NANDO:2200506	SLC27A5	http://identifiers.org/ncbigene/10998	10998	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10999	HGNC:10999	solute carrier family 27 member 5	The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200440	NANDO:2200440	SLC29A3	http://identifiers.org/ncbigene/55315	55315	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23096	HGNC:23096	solute carrier family 29 member 3	This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200457	NANDO:2200457	SLC29A3	http://identifiers.org/ncbigene/55315	55315	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23096	HGNC:23096	solute carrier family 29 member 3	This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2201022	NANDO:2201022	SLC29A3	http://identifiers.org/ncbigene/55315	55315	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23096	HGNC:23096	solute carrier family 29 member 3	This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2201365	NANDO:2201365	SLC29A3	http://identifiers.org/ncbigene/55315	55315	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23096	HGNC:23096	solute carrier family 29 member 3	This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	SLC2A1	http://identifiers.org/ncbigene/6513	6513	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11005	HGNC:11005	solute carrier family 2 member 1	This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]
http://nanbyodata.jp/ontology/NANDO_1200520	NANDO:1200520	SLC2A1	http://identifiers.org/ncbigene/6513	6513	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11005	HGNC:11005	solute carrier family 2 member 1	This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]
http://nanbyodata.jp/ontology/NANDO_1200531	NANDO:1200531	SLC2A1	http://identifiers.org/ncbigene/6513	6513	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11005	HGNC:11005	solute carrier family 2 member 1	This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]
http://nanbyodata.jp/ontology/NANDO_1200799	NANDO:1200799	SLC2A1	http://identifiers.org/ncbigene/6513	6513	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11005	HGNC:11005	solute carrier family 2 member 1	This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]
http://nanbyodata.jp/ontology/NANDO_2200545	NANDO:2200545	SLC2A1	http://identifiers.org/ncbigene/6513	6513	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11005	HGNC:11005	solute carrier family 2 member 1	This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]
http://nanbyodata.jp/ontology/NANDO_2200623	NANDO:2200623	SLC2A1	http://identifiers.org/ncbigene/6513	6513	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11005	HGNC:11005	solute carrier family 2 member 1	This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]
http://nanbyodata.jp/ontology/NANDO_2200187	NANDO:2200187	SLC2A2	http://identifiers.org/ncbigene/6514	6514	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11006	HGNC:11006	solute carrier family 2 member 2	This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_2200463	NANDO:2200463	SLC2A2	http://identifiers.org/ncbigene/6514	6514	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11006	HGNC:11006	solute carrier family 2 member 2	This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_2201434	NANDO:2201434	SLC2A2	http://identifiers.org/ncbigene/6514	6514	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11006	HGNC:11006	solute carrier family 2 member 2	This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_2201435	NANDO:2201435	SLC2A2	http://identifiers.org/ncbigene/6514	6514	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11006	HGNC:11006	solute carrier family 2 member 2	This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_2200589	NANDO:2200589	SLC2A9	http://identifiers.org/ncbigene/56606	56606	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13446	HGNC:13446	solute carrier family 2 member 9	This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200202	NANDO:2200202	SLC34A2	http://identifiers.org/ncbigene/10568	10568	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11020	HGNC:11020	solute carrier family 34 member 2	The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2200403	NANDO:2200403	SLC34A3	http://identifiers.org/ncbigene/142680	142680	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20305	HGNC:20305	solute carrier family 34 member 3	This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.[provided by RefSeq, Apr 2010]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	SLC35C1	http://identifiers.org/ncbigene/55343	55343	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20197	HGNC:20197	solute carrier family 35 member C1	This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_1200355	NANDO:1200355	SLC35C1	http://identifiers.org/ncbigene/55343	55343	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20197	HGNC:20197	solute carrier family 35 member C1	This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_2200755	NANDO:2200755	SLC35C1	http://identifiers.org/ncbigene/55343	55343	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20197	HGNC:20197	solute carrier family 35 member C1	This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	SLC37A4	http://identifiers.org/ncbigene/2542	2542	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4061	HGNC:4061	solute carrier family 37 member 4	This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_1200838	NANDO:1200838	SLC37A4	http://identifiers.org/ncbigene/2542	2542	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4061	HGNC:4061	solute carrier family 37 member 4	This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_1200841	NANDO:1200841	SLC37A4	http://identifiers.org/ncbigene/2542	2542	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4061	HGNC:4061	solute carrier family 37 member 4	This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_1201018	NANDO:1201018	SLC37A4	http://identifiers.org/ncbigene/2542	2542	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4061	HGNC:4061	solute carrier family 37 member 4	This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_2200538	NANDO:2200538	SLC37A4	http://identifiers.org/ncbigene/2542	2542	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4061	HGNC:4061	solute carrier family 37 member 4	This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_2200747	NANDO:2200747	SLC37A4	http://identifiers.org/ncbigene/2542	2542	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4061	HGNC:4061	solute carrier family 37 member 4	This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_2200754	NANDO:2200754	SLC37A4	http://identifiers.org/ncbigene/2542	2542	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4061	HGNC:4061	solute carrier family 37 member 4	This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_2201154	NANDO:2201154	SLC37A4	http://identifiers.org/ncbigene/2542	2542	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4061	HGNC:4061	solute carrier family 37 member 4	This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_1200645	NANDO:1200645	SLC39A13	http://identifiers.org/ncbigene/91252	91252	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20859	HGNC:20859	solute carrier family 39 member 13	This gene encodes a member of the LIV-1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndrome. Alternate transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_1201088	NANDO:1201088	SLC39A13	http://identifiers.org/ncbigene/91252	91252	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20859	HGNC:20859	solute carrier family 39 member 13	This gene encodes a member of the LIV-1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndrome. Alternate transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
http://nanbyodata.jp/ontology/NANDO_2200584	NANDO:2200584	SLC39A4	http://identifiers.org/ncbigene/55630	55630	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17129	HGNC:17129	solute carrier family 39 member 4	This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_2200489	NANDO:2200489	SLC3A1	http://identifiers.org/ncbigene/6519	6519	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11025	HGNC:11025	solute carrier family 3 member 1	This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200637	NANDO:1200637	SLC45A2	http://identifiers.org/ncbigene/51151	51151	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16472	HGNC:16472	solute carrier family 45 member 2	This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_1200641	NANDO:1200641	SLC45A2	http://identifiers.org/ncbigene/51151	51151	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16472	HGNC:16472	solute carrier family 45 member 2	This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2200986	NANDO:2200986	SLC45A2	http://identifiers.org/ncbigene/51151	51151	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16472	HGNC:16472	solute carrier family 45 member 2	This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_1200810	NANDO:1200810	SLC46A1	http://identifiers.org/ncbigene/113235	113235	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30521	HGNC:30521	solute carrier family 46 member 1	This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]
http://nanbyodata.jp/ontology/NANDO_2200592	NANDO:2200592	SLC46A1	http://identifiers.org/ncbigene/113235	113235	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30521	HGNC:30521	solute carrier family 46 member 1	This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]
http://nanbyodata.jp/ontology/NANDO_2200622	NANDO:2200622	SLC4A1	http://identifiers.org/ncbigene/6521	6521	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11027	HGNC:11027	solute carrier family 4 member 1 (Diego blood group)	The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200623	NANDO:2200623	SLC4A1	http://identifiers.org/ncbigene/6521	6521	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11027	HGNC:11027	solute carrier family 4 member 1 (Diego blood group)	The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200144	NANDO:2200144	SLC4A4	http://identifiers.org/ncbigene/8671	8671	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11030	HGNC:11030	solute carrier family 4 member 4	This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200909	NANDO:2200909	SLC5A1	http://identifiers.org/ncbigene/6523	6523	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11036	HGNC:11036	solute carrier family 5 member 1	This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
http://nanbyodata.jp/ontology/NANDO_2200334	NANDO:2200334	SLC5A5	http://identifiers.org/ncbigene/6528	6528	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11040	HGNC:11040	solute carrier family 5 member 5	This gene encodes a member of the sodium glucose cotransporter family. The encoded protein is responsible for the uptake of iodine in tissues such as the thyroid and lactating breast tissue. The iodine taken up by the thyroid is incorporated into the metabolic regulators triiodothyronine (T3) and tetraiodothyronine (T4). Mutations in this gene are associated with thyroid dyshormonogenesis 1.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	SLC5A7	http://identifiers.org/ncbigene/60482	60482	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14025	HGNC:14025	solute carrier family 5 member 7	This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasma membranes in response to depolarization of cholinergic terminals. Dysfunction of cholinergic signaling has been implicated in various disorders including depression, attention-deficit disorder, and schizophrenia. An allelic variant of this gene is associated with autosomal dominant distal hereditary motor neuronopathy type VIIA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
http://nanbyodata.jp/ontology/NANDO_2200487	NANDO:2200487	SLC6A19	http://identifiers.org/ncbigene/340024	340024	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:27960	HGNC:27960	solute carrier family 6 member 19	This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene may result in Hartnup disorder, an inherited disease with symptoms such as pellagra, cerebellar ataxia, and psychosis. The expression and function of B0AT1 (SLC6A19) in intestinal cells depends on the presence of the accessory protein angiotensin-converting enzyme 2 (ACE2) which, among other functions, acts as a chaperone for membrane trafficking of B0AT1. The ACE2 is also the cellular receptor for severe acute respiratory syndrome-coronavirus (SARS-CoV) and for SARS-CoV-2 that is causing the coronavirus 2019 (COVID-19) pandemic [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_1201032	NANDO:1201032	SLC6A8	http://identifiers.org/ncbigene/6535	6535	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11055	HGNC:11055	solute carrier family 6 member 8	The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_1201035	NANDO:1201035	SLC6A8	http://identifiers.org/ncbigene/6535	6535	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11055	HGNC:11055	solute carrier family 6 member 8	The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_2200842	NANDO:2200842	SLC6A8	http://identifiers.org/ncbigene/6535	6535	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11055	HGNC:11055	solute carrier family 6 member 8	The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_2201301	NANDO:2201301	SLC6A8	http://identifiers.org/ncbigene/6535	6535	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11055	HGNC:11055	solute carrier family 6 member 8	The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_1200809	NANDO:1200809	SLC7A7	http://identifiers.org/ncbigene/9056	9056	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11065	HGNC:11065	solute carrier family 7 member 7	The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]
http://nanbyodata.jp/ontology/NANDO_2200488	NANDO:2200488	SLC7A7	http://identifiers.org/ncbigene/9056	9056	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11065	HGNC:11065	solute carrier family 7 member 7	The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]
http://nanbyodata.jp/ontology/NANDO_2200489	NANDO:2200489	SLC7A9	http://identifiers.org/ncbigene/11136	11136	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11067	HGNC:11067	solute carrier family 7 member 9	This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011]
http://nanbyodata.jp/ontology/NANDO_1200642	NANDO:1200642	SLCO2A1	http://identifiers.org/ncbigene/6578	6578	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10955	HGNC:10955	solute carrier organic anion transporter family member 2A1	This gene encodes a prostaglandin transporter that is a member of the 12-membrane-spanning superfamily of transporters. The encoded protein may be involved in mediating the uptake and clearance of prostaglandins in numerous tissues. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_1200902	NANDO:1200902	SLCO2A1	http://identifiers.org/ncbigene/6578	6578	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10955	HGNC:10955	solute carrier organic anion transporter family member 2A1	This gene encodes a prostaglandin transporter that is a member of the 12-membrane-spanning superfamily of transporters. The encoded protein may be involved in mediating the uptake and clearance of prostaglandins in numerous tissues. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_2200925	NANDO:2200925	SLCO2A1	http://identifiers.org/ncbigene/6578	6578	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10955	HGNC:10955	solute carrier organic anion transporter family member 2A1	This gene encodes a prostaglandin transporter that is a member of the 12-membrane-spanning superfamily of transporters. The encoded protein may be involved in mediating the uptake and clearance of prostaglandins in numerous tissues. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_2201004	NANDO:2201004	SLCO2A1	http://identifiers.org/ncbigene/6578	6578	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10955	HGNC:10955	solute carrier organic anion transporter family member 2A1	This gene encodes a prostaglandin transporter that is a member of the 12-membrane-spanning superfamily of transporters. The encoded protein may be involved in mediating the uptake and clearance of prostaglandins in numerous tissues. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_1200891	NANDO:1200891	SLX4	http://identifiers.org/ncbigene/84464	84464	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23845	HGNC:23845	SLX4 structure-specific endonuclease subunit	This gene encodes a protein that functions as an assembly component of multiple structure-specific endonucleases. These endonuclease complexes are required for repair of specific types of DNA lesions and critical for cellular responses to replication fork failure. Mutations in this gene were found in patients with Fanconi anemia. [provided by RefSeq, Sep 2016]
http://nanbyodata.jp/ontology/NANDO_1200644	NANDO:1200644	SMAD2	http://identifiers.org/ncbigene/4087	4087	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6768	HGNC:6768	SMAD family member 2	The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]
http://nanbyodata.jp/ontology/NANDO_1200644	NANDO:1200644	SMAD3	http://identifiers.org/ncbigene/4088	4088	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6769	HGNC:6769	SMAD family member 3	The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. The SMAD3 protein functions in the transforming growth factor-beta signaling pathway, and transmits signals from the cell surface to the nucleus, regulating gene activity and cell proliferation. It also functions as a tumor suppressor. Mutations in this gene are associated with aneurysms-osteoarthritis syndrome and Loeys-Dietz Syndrome 3. [provided by RefSeq, Nov 2019]
http://nanbyodata.jp/ontology/NANDO_2200968	NANDO:2200968	SMAD3	http://identifiers.org/ncbigene/4088	4088	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6769	HGNC:6769	SMAD family member 3	The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. The SMAD3 protein functions in the transforming growth factor-beta signaling pathway, and transmits signals from the cell surface to the nucleus, regulating gene activity and cell proliferation. It also functions as a tumor suppressor. Mutations in this gene are associated with aneurysms-osteoarthritis syndrome and Loeys-Dietz Syndrome 3. [provided by RefSeq, Nov 2019]
http://nanbyodata.jp/ontology/NANDO_2200969	NANDO:2200969	SMAD3	http://identifiers.org/ncbigene/4088	4088	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6769	HGNC:6769	SMAD family member 3	The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. The SMAD3 protein functions in the transforming growth factor-beta signaling pathway, and transmits signals from the cell surface to the nucleus, regulating gene activity and cell proliferation. It also functions as a tumor suppressor. Mutations in this gene are associated with aneurysms-osteoarthritis syndrome and Loeys-Dietz Syndrome 3. [provided by RefSeq, Nov 2019]
http://nanbyodata.jp/ontology/NANDO_1200744	NANDO:1200744	SMAD4	http://identifiers.org/ncbigene/4089	4089	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6770	HGNC:6770	SMAD family member 4	This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor (TGF)-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The protein acts as a tumor suppressor and inhibits epithelial cell proliferation. It may also have an inhibitory effect on tumors by reducing angiogenesis and increasng blood vessel hyperpermeability. The encoded protein is a crucial component of the bone morphogenetic protein signaling pathway. The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200916	NANDO:2200916	SMAD4	http://identifiers.org/ncbigene/4089	4089	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6770	HGNC:6770	SMAD family member 4	This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor (TGF)-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The protein acts as a tumor suppressor and inhibits epithelial cell proliferation. It may also have an inhibitory effect on tumors by reducing angiogenesis and increasng blood vessel hyperpermeability. The encoded protein is a crucial component of the bone morphogenetic protein signaling pathway. The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2201034	NANDO:2201034	SMAD4	http://identifiers.org/ncbigene/4089	4089	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6770	HGNC:6770	SMAD family member 4	This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor (TGF)-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The protein acts as a tumor suppressor and inhibits epithelial cell proliferation. It may also have an inhibitory effect on tumors by reducing angiogenesis and increasng blood vessel hyperpermeability. The encoded protein is a crucial component of the bone morphogenetic protein signaling pathway. The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200670	NANDO:1200670	SMARCA4	http://identifiers.org/ncbigene/6597	6597	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11100	HGNC:11100	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
http://nanbyodata.jp/ontology/NANDO_2200977	NANDO:2200977	SMARCA4	http://identifiers.org/ncbigene/6597	6597	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11100	HGNC:11100	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	SMARCAL1	http://identifiers.org/ncbigene/50485	50485	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11102	HGNC:11102	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1	The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200337	NANDO:1200337	SMARCAL1	http://identifiers.org/ncbigene/50485	50485	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11102	HGNC:11102	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1	The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200711	NANDO:2200711	SMARCAL1	http://identifiers.org/ncbigene/50485	50485	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11102	HGNC:11102	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1	The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200670	NANDO:1200670	SMARCB1	http://identifiers.org/ncbigene/6598	6598	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11103	HGNC:11103	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_2200057	NANDO:2200057	SMARCB1	http://identifiers.org/ncbigene/6598	6598	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11103	HGNC:11103	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_2200101	NANDO:2200101	SMARCB1	http://identifiers.org/ncbigene/6598	6598	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11103	HGNC:11103	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_2200977	NANDO:2200977	SMARCB1	http://identifiers.org/ncbigene/6598	6598	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11103	HGNC:11103	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_1200670	NANDO:1200670	SMARCE1	http://identifiers.org/ncbigene/6605	6605	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11109	HGNC:11109	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200977	NANDO:2200977	SMARCE1	http://identifiers.org/ncbigene/6605	6605	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11109	HGNC:11109	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200957	NANDO:1200957	SMC1A	http://identifiers.org/ncbigene/8243	8243	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11111	HGNC:11111	structural maintenance of chromosomes 1A	Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_1200960	NANDO:1200960	SMC1A	http://identifiers.org/ncbigene/8243	8243	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11111	HGNC:11111	structural maintenance of chromosomes 1A	Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_2200958	NANDO:2200958	SMC1A	http://identifiers.org/ncbigene/8243	8243	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11111	HGNC:11111	structural maintenance of chromosomes 1A	Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_1200957	NANDO:1200957	SMC3	http://identifiers.org/ncbigene/9126	9126	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2468	HGNC:2468	structural maintenance of chromosomes 3	This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200960	NANDO:1200960	SMC3	http://identifiers.org/ncbigene/9126	9126	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2468	HGNC:2468	structural maintenance of chromosomes 3	This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200958	NANDO:2200958	SMC3	http://identifiers.org/ncbigene/9126	9126	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2468	HGNC:2468	structural maintenance of chromosomes 3	This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	SMCHD1	http://identifiers.org/ncbigene/23347	23347	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29090	HGNC:29090	structural maintenance of chromosomes flexible hinge domain containing 1	This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_2200859	NANDO:2200859	SMCHD1	http://identifiers.org/ncbigene/23347	23347	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29090	HGNC:29090	structural maintenance of chromosomes flexible hinge domain containing 1	This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]
http://nanbyodata.jp/ontology/NANDO_1200003	NANDO:1200003	SMN1	http://identifiers.org/ncbigene/6606	6606	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11117	HGNC:11117	survival of motor neuron 1, telomeric	This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_1200004	NANDO:1200004	SMN1	http://identifiers.org/ncbigene/6606	6606	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11117	HGNC:11117	survival of motor neuron 1, telomeric	This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_1200005	NANDO:1200005	SMN1	http://identifiers.org/ncbigene/6606	6606	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11117	HGNC:11117	survival of motor neuron 1, telomeric	This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_1200006	NANDO:1200006	SMN1	http://identifiers.org/ncbigene/6606	6606	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11117	HGNC:11117	survival of motor neuron 1, telomeric	This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_1200007	NANDO:1200007	SMN1	http://identifiers.org/ncbigene/6606	6606	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11117	HGNC:11117	survival of motor neuron 1, telomeric	This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_2200853	NANDO:2200853	SMN1	http://identifiers.org/ncbigene/6606	6606	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11117	HGNC:11117	survival of motor neuron 1, telomeric	This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	SMPD1	http://identifiers.org/ncbigene/6609	6609	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11120	HGNC:11120	sphingomyelin phosphodiesterase 1	The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_1200060	NANDO:1200060	SMPD1	http://identifiers.org/ncbigene/6609	6609	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11120	HGNC:11120	sphingomyelin phosphodiesterase 1	The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_1201084	NANDO:1201084	SMPD1	http://identifiers.org/ncbigene/6609	6609	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11120	HGNC:11120	sphingomyelin phosphodiesterase 1	The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_2200561	NANDO:2200561	SMPD1	http://identifiers.org/ncbigene/6609	6609	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11120	HGNC:11120	sphingomyelin phosphodiesterase 1	The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_2201206	NANDO:2201206	SMPD1	http://identifiers.org/ncbigene/6609	6609	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11120	HGNC:11120	sphingomyelin phosphodiesterase 1	The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_2201207	NANDO:2201207	SMPD1	http://identifiers.org/ncbigene/6609	6609	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11120	HGNC:11120	sphingomyelin phosphodiesterase 1	The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_2200411	NANDO:2200411	SNRPN	http://identifiers.org/ncbigene/6638	6638	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11164	HGNC:11164	small nuclear ribonucleoprotein polypeptide N	This gene is located within the Prader-Willi Syndrome critical region on chromosome 15 and is imprinted and expressed from the paternal allele. It encodes a component of the small nuclear ribonucleoprotein complex, which functions in pre-mRNA processing and may contribute to tissue-specific alternative splicing. Alternative promoter use and alternative splicing result in a multitude of transcript variants encoding the same protein. Transcript variants that initiate at the CpG island-associated imprinting center may be bicistronic and also encode the SNRPN upstream reading frame protein (SNURF) from an upstream open reading frame. In addition, long spliced transcripts for small nucleolar RNA host gene 14 (SNHG14) may originate from the promoters at this locus and share exons with this gene. Alterations in this region are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017]
http://nanbyodata.jp/ontology/NANDO_2200228	NANDO:2200228	SNTA1	http://identifiers.org/ncbigene/6640	6640	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11167	HGNC:11167	syntrophin alpha 1	Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013]
http://nanbyodata.jp/ontology/NANDO_1200998	NANDO:1200998	SNX10	http://identifiers.org/ncbigene/29887	29887	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14974	HGNC:14974	sorting nexin 10	This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene may play a role in regulating endosome homeostasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
http://nanbyodata.jp/ontology/NANDO_1200002	NANDO:1200002	SOD1	http://identifiers.org/ncbigene/6647	6647	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11179	HGNC:11179	superoxide dismutase 1	The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. In addition, this protein contains an antimicrobial peptide that displays antibacterial, antifungal, and anti-MRSA activity against E. coli, E. faecalis, S. aureus, S. aureus MRSA LPV+, S. agalactiae, and yeast C. krusei. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_1200008	NANDO:1200008	SOD1	http://identifiers.org/ncbigene/6647	6647	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11179	HGNC:11179	superoxide dismutase 1	The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. In addition, this protein contains an antimicrobial peptide that displays antibacterial, antifungal, and anti-MRSA activity against E. coli, E. faecalis, S. aureus, S. aureus MRSA LPV+, S. agalactiae, and yeast C. krusei. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	SORD	http://identifiers.org/ncbigene/6652	6652	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11184	HGNC:11184	sorbitol dehydrogenase	Sorbitol dehydrogenase (SORD; EC 1.1.1.14) catalyzes the interconversion of polyols and their corresponding ketoses, and together with aldose reductase (ALDR1; MIM 103880), makes up the sorbitol pathway that is believed to play an important role in the development of diabetic complications (summarized by Carr and Markham, 1995 [PubMed 8535074]). The first reaction of the pathway (also called the polyol pathway) is the reduction of glucose to sorbitol by ALDR1 with NADPH as the cofactor. SORD then oxidizes the sorbitol to fructose using NAD(+) cofactor.[supplied by OMIM, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_1200680	NANDO:1200680	SOS1	http://identifiers.org/ncbigene/6654	6654	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11187	HGNC:11187	SOS Ras/Rac guanine nucleotide exchange factor 1	This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200413	NANDO:2200413	SOS1	http://identifiers.org/ncbigene/6654	6654	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11187	HGNC:11187	SOS Ras/Rac guanine nucleotide exchange factor 1	This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200680	NANDO:1200680	SOS2	http://identifiers.org/ncbigene/6655	6655	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11188	HGNC:11188	SOS Ras/Rho guanine nucleotide exchange factor 2	This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2201022	NANDO:2201022	SOST	http://identifiers.org/ncbigene/50964	50964	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13771	HGNC:13771	sclerostin	Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201368	NANDO:2201368	SOST	http://identifiers.org/ncbigene/50964	50964	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13771	HGNC:13771	sclerostin	Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201369	NANDO:2201369	SOST	http://identifiers.org/ncbigene/50964	50964	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13771	HGNC:13771	sclerostin	Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200575	NANDO:1200575	SOX10	http://identifiers.org/ncbigene/6663	6663	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11190	HGNC:11190	SRY-box transcription factor 10	This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200586	NANDO:1200586	SOX10	http://identifiers.org/ncbigene/6663	6663	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11190	HGNC:11190	SRY-box transcription factor 10	This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200836	NANDO:2200836	SOX10	http://identifiers.org/ncbigene/6663	6663	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11190	HGNC:11190	SRY-box transcription factor 10	This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200670	NANDO:1200670	SOX11	http://identifiers.org/ncbigene/6664	6664	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11191	HGNC:11191	SRY-box transcription factor 11	This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a role in tumorigenesis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200977	NANDO:2200977	SOX11	http://identifiers.org/ncbigene/6664	6664	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11191	HGNC:11191	SRY-box transcription factor 11	This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a role in tumorigenesis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201031	NANDO:2201031	SOX18	http://identifiers.org/ncbigene/54345	54345	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11194	HGNC:11194	SRY-box transcription factor 18	This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200560	NANDO:1200560	SOX2	http://identifiers.org/ncbigene/6657	6657	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11195	HGNC:11195	SRY-box transcription factor 2	This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200820	NANDO:2200820	SOX2	http://identifiers.org/ncbigene/6657	6657	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11195	HGNC:11195	SRY-box transcription factor 2	This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200383	NANDO:2200383	SOX9	http://identifiers.org/ncbigene/6662	6662	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11204	HGNC:11204	SRY-box transcription factor 9	The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200387	NANDO:2200387	SOX9	http://identifiers.org/ncbigene/6662	6662	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11204	HGNC:11204	SRY-box transcription factor 9	The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200392	NANDO:2200392	SOX9	http://identifiers.org/ncbigene/6662	6662	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11204	HGNC:11204	SRY-box transcription factor 9	The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200393	NANDO:2200393	SOX9	http://identifiers.org/ncbigene/6662	6662	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11204	HGNC:11204	SRY-box transcription factor 9	The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	SP110	http://identifiers.org/ncbigene/3431	3431	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5401	HGNC:5401	SP110 nuclear body protein	The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200341	NANDO:1200341	SP110	http://identifiers.org/ncbigene/3431	3431	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5401	HGNC:5401	SP110 nuclear body protein	The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200714	NANDO:2200714	SP110	http://identifiers.org/ncbigene/3431	3431	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5401	HGNC:5401	SP110 nuclear body protein	The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200873	NANDO:1200873	SP7	http://identifiers.org/ncbigene/121340	121340	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17321	HGNC:17321	Sp7 transcription factor	This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.[provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_2201011	NANDO:2201011	SP7	http://identifiers.org/ncbigene/121340	121340	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17321	HGNC:17321	Sp7 transcription factor	This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.[provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	SPAG1	http://identifiers.org/ncbigene/6674	6674	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11212	HGNC:11212	sperm associated antigen 1	The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm agglutinating antibodies from an infertile woman. Furthermore, immunization of female rats with the recombinant human protein reduced fertility. This protein localizes to the plasma membrane of germ cells in the testis and to the post-acrosomal plasma membrane of mature spermatozoa. Recombinant polypeptide binds GTP and exhibits GTPase activity. Thus, this protein may regulate GTP signal transduction pathways involved in spermatogenesis and fertilization. Two transcript variants of this gene encode the same protein. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200873	NANDO:1200873	SPARC	http://identifiers.org/ncbigene/6678	6678	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11219	HGNC:11219	secreted protein acidic and cysteine rich	This gene encodes a cysteine-rich acidic matrix-associated protein. The encoded protein is required for the collagen in bone to become calcified but is also involved in extracellular matrix synthesis and promotion of changes to cell shape. The gene product has been associated with tumor suppression but has also been correlated with metastasis based on changes to cell shape which can promote tumor cell invasion. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2015]
http://nanbyodata.jp/ontology/NANDO_1200477	NANDO:1200477	SPEG	http://identifiers.org/ncbigene/10290	10290	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16901	HGNC:16901	striated muscle enriched protein kinase	This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016]
http://nanbyodata.jp/ontology/NANDO_1200481	NANDO:1200481	SPEG	http://identifiers.org/ncbigene/10290	10290	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16901	HGNC:16901	striated muscle enriched protein kinase	This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016]
http://nanbyodata.jp/ontology/NANDO_1200482	NANDO:1200482	SPEG	http://identifiers.org/ncbigene/10290	10290	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16901	HGNC:16901	striated muscle enriched protein kinase	This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016]
http://nanbyodata.jp/ontology/NANDO_1200921	NANDO:1200921	SPINK1	http://identifiers.org/ncbigene/6690	6690	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11244	HGNC:11244	serine peptidase inhibitor Kazal type 1	The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary pancreatitis and tropical calcific pancreatitis. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200942	NANDO:2200942	SPINK1	http://identifiers.org/ncbigene/6690	6690	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11244	HGNC:11244	serine peptidase inhibitor Kazal type 1	The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary pancreatitis and tropical calcific pancreatitis. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	SPINK5	http://identifiers.org/ncbigene/11005	11005	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15464	HGNC:15464	serine peptidase inhibitor Kazal type 5	This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200338	NANDO:1200338	SPINK5	http://identifiers.org/ncbigene/11005	11005	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15464	HGNC:15464	serine peptidase inhibitor Kazal type 5	This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200609	NANDO:1200609	SPINK5	http://identifiers.org/ncbigene/11005	11005	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15464	HGNC:15464	serine peptidase inhibitor Kazal type 5	This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_2200993	NANDO:2200993	SPINK5	http://identifiers.org/ncbigene/11005	11005	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15464	HGNC:15464	serine peptidase inhibitor Kazal type 5	This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	SPR	http://identifiers.org/ncbigene/6697	6697	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11257	HGNC:11257	sepiapterin reductase	This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200516	NANDO:1200516	SPR	http://identifiers.org/ncbigene/6697	6697	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11257	HGNC:11257	sepiapterin reductase	This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200982	NANDO:1200982	SPR	http://identifiers.org/ncbigene/6697	6697	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11257	HGNC:11257	sepiapterin reductase	This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200594	NANDO:2200594	SPR	http://identifiers.org/ncbigene/6697	6697	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11257	HGNC:11257	sepiapterin reductase	This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200592	NANDO:1200592	SPTAN1	http://identifiers.org/ncbigene/6709	6709	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11273	HGNC:11273	spectrin alpha, non-erythrocytic 1	Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
http://nanbyodata.jp/ontology/NANDO_2200622	NANDO:2200622	SPTAN1	http://identifiers.org/ncbigene/6709	6709	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11273	HGNC:11273	spectrin alpha, non-erythrocytic 1	Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
http://nanbyodata.jp/ontology/NANDO_2200878	NANDO:2200878	SPTAN1	http://identifiers.org/ncbigene/6709	6709	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11273	HGNC:11273	spectrin alpha, non-erythrocytic 1	Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
http://nanbyodata.jp/ontology/NANDO_2201403	NANDO:2201403	SPTAN1	http://identifiers.org/ncbigene/6709	6709	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11273	HGNC:11273	spectrin alpha, non-erythrocytic 1	Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
http://nanbyodata.jp/ontology/NANDO_1200037	NANDO:1200037	SPTBN2	http://identifiers.org/ncbigene/6712	6712	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11276	HGNC:11276	spectrin beta, non-erythrocytic 2	Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]
http://nanbyodata.jp/ontology/NANDO_2200882	NANDO:2200882	SPTBN2	http://identifiers.org/ncbigene/6712	6712	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11276	HGNC:11276	spectrin beta, non-erythrocytic 2	Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]
http://nanbyodata.jp/ontology/NANDO_2200389	NANDO:2200389	SRD5A2	http://identifiers.org/ncbigene/6716	6716	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11285	HGNC:11285	steroid 5 alpha-reductase 2	This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200601	NANDO:1200601	SRPX2	http://identifiers.org/ncbigene/27286	27286	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30668	HGNC:30668	sushi repeat containing protein X-linked 2	This gene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and language centers in the brain. This protein may also be involved in angiogenesis. Mutations in this gene are the cause of bilateral perisylvian polymicrogyria, rolandic epilepsy, speech dyspraxia and cognitive disability. [provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2201402	NANDO:2201402	SRPX2	http://identifiers.org/ncbigene/27286	27286	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30668	HGNC:30668	sushi repeat containing protein X-linked 2	This gene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and language centers in the brain. This protein may also be involved in angiogenesis. Mutations in this gene are the cause of bilateral perisylvian polymicrogyria, rolandic epilepsy, speech dyspraxia and cognitive disability. [provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2200383	NANDO:2200383	SRY	http://identifiers.org/ncbigene/6736	6736	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11311	HGNC:11311	sex determining region Y	This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200387	NANDO:2200387	SRY	http://identifiers.org/ncbigene/6736	6736	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11311	HGNC:11311	sex determining region Y	This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200388	NANDO:2200388	SRY	http://identifiers.org/ncbigene/6736	6736	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11311	HGNC:11311	sex determining region Y	This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200389	NANDO:2200389	SRY	http://identifiers.org/ncbigene/6736	6736	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11311	HGNC:11311	sex determining region Y	This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200390	NANDO:2200390	SRY	http://identifiers.org/ncbigene/6736	6736	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11311	HGNC:11311	sex determining region Y	This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200391	NANDO:2200391	SRY	http://identifiers.org/ncbigene/6736	6736	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11311	HGNC:11311	sex determining region Y	This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200392	NANDO:2200392	SRY	http://identifiers.org/ncbigene/6736	6736	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11311	HGNC:11311	sex determining region Y	This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200393	NANDO:2200393	SRY	http://identifiers.org/ncbigene/6736	6736	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11311	HGNC:11311	sex determining region Y	This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200061	NANDO:2200061	SSX2	http://identifiers.org/ncbigene/6757	6757	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11336	HGNC:11336	SSX family member 2	The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX1 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. This gene also has an identical duplicate, GeneID: 727837, located about 45 kb downstream in the opposite orientation on chromosome X. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_1200396	NANDO:1200396	STAR	http://identifiers.org/ncbigene/6770	6770	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11359	HGNC:11359	steroidogenic acute regulatory protein	The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200397	NANDO:1200397	STAR	http://identifiers.org/ncbigene/6770	6770	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11359	HGNC:11359	steroidogenic acute regulatory protein	The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	STAT1	http://identifiers.org/ncbigene/6772	6772	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11362	HGNC:11362	signal transducer and activator of transcription 1	The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. The protein encoded by this gene can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. The protein plays an important role in immune responses to viral, fungal and mycobacterial pathogens. Mutations in this gene are associated with Immunodeficiency 31B, 31A, and 31C. [provided by RefSeq, Jun 2020]
http://nanbyodata.jp/ontology/NANDO_1200359	NANDO:1200359	STAT1	http://identifiers.org/ncbigene/6772	6772	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11362	HGNC:11362	signal transducer and activator of transcription 1	The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. The protein encoded by this gene can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. The protein plays an important role in immune responses to viral, fungal and mycobacterial pathogens. Mutations in this gene are associated with Immunodeficiency 31B, 31A, and 31C. [provided by RefSeq, Jun 2020]
http://nanbyodata.jp/ontology/NANDO_1200363	NANDO:1200363	STAT1	http://identifiers.org/ncbigene/6772	6772	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11362	HGNC:11362	signal transducer and activator of transcription 1	The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. The protein encoded by this gene can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. The protein plays an important role in immune responses to viral, fungal and mycobacterial pathogens. Mutations in this gene are associated with Immunodeficiency 31B, 31A, and 31C. [provided by RefSeq, Jun 2020]
http://nanbyodata.jp/ontology/NANDO_2200759	NANDO:2200759	STAT1	http://identifiers.org/ncbigene/6772	6772	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11362	HGNC:11362	signal transducer and activator of transcription 1	The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. The protein encoded by this gene can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. The protein plays an important role in immune responses to viral, fungal and mycobacterial pathogens. Mutations in this gene are associated with Immunodeficiency 31B, 31A, and 31C. [provided by RefSeq, Jun 2020]
http://nanbyodata.jp/ontology/NANDO_2200764	NANDO:2200764	STAT1	http://identifiers.org/ncbigene/6772	6772	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11362	HGNC:11362	signal transducer and activator of transcription 1	The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. The protein encoded by this gene can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. The protein plays an important role in immune responses to viral, fungal and mycobacterial pathogens. Mutations in this gene are associated with Immunodeficiency 31B, 31A, and 31C. [provided by RefSeq, Jun 2020]
http://nanbyodata.jp/ontology/NANDO_2200765	NANDO:2200765	STAT2	http://identifiers.org/ncbigene/6773	6773	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11363	HGNC:11363	signal transducer and activator of transcription 2	The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. The protein mediates innate antiviral activity. Mutations in this gene result in Immunodeficiency 44. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_2200769	NANDO:2200769	STAT2	http://identifiers.org/ncbigene/6773	6773	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11363	HGNC:11363	signal transducer and activator of transcription 2	The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. The protein mediates innate antiviral activity. Mutations in this gene result in Immunodeficiency 44. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_2200770	NANDO:2200770	STAT2	http://identifiers.org/ncbigene/6773	6773	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11363	HGNC:11363	signal transducer and activator of transcription 2	The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. The protein mediates innate antiviral activity. Mutations in this gene result in Immunodeficiency 44. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	STAT3	http://identifiers.org/ncbigene/6774	6774	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11364	HGNC:11364	signal transducer and activator of transcription 3	The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. This gene also plays a role in regulating host response to viral and bacterial infections. Mutations in this gene are associated with infantile-onset multisystem autoimmune disease and hyper-immunoglobulin E syndrome. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_1200340	NANDO:1200340	STAT3	http://identifiers.org/ncbigene/6774	6774	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11364	HGNC:11364	signal transducer and activator of transcription 3	The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. This gene also plays a role in regulating host response to viral and bacterial infections. Mutations in this gene are associated with infantile-onset multisystem autoimmune disease and hyper-immunoglobulin E syndrome. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_2200713	NANDO:2200713	STAT3	http://identifiers.org/ncbigene/6774	6774	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11364	HGNC:11364	signal transducer and activator of transcription 3	The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. This gene also plays a role in regulating host response to viral and bacterial infections. Mutations in this gene are associated with infantile-onset multisystem autoimmune disease and hyper-immunoglobulin E syndrome. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_2200737	NANDO:2200737	STAT5B	http://identifiers.org/ncbigene/6777	6777	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11367	HGNC:11367	signal transducer and activator of transcription 5B	The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	STAT5b	http://identifiers.org/ncbigene/6777	6777	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11367	HGNC:11367	signal transducer and activator of transcription 5B	The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201110	NANDO:1201110	STING1	http://identifiers.org/ncbigene/340061	340061	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:27962	HGNC:27962	stimulator of interferon response cGAMP interactor 1	This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses. The encoded protein has also been shown to play a role in apoptotic signaling by associating with type II major histocompatibility complex. Mutations in this gene are the cause of infantile-onset STING-associated vasculopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
http://nanbyodata.jp/ontology/NANDO_2201487	NANDO:2201487	STING1	http://identifiers.org/ncbigene/340061	340061	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:27962	HGNC:27962	stimulator of interferon response cGAMP interactor 1	This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses. The encoded protein has also been shown to play a role in apoptotic signaling by associating with type II major histocompatibility complex. Mutations in this gene are the cause of infantile-onset STING-associated vasculopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
http://nanbyodata.jp/ontology/NANDO_2200917	NANDO:2200917	STK11	http://identifiers.org/ncbigene/6794	6794	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11389	HGNC:11389	serine/threonine kinase 11	This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	STK36	http://identifiers.org/ncbigene/27148	27148	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17209	HGNC:17209	serine/threonine kinase 36	This gene encodes a member of the serine/threonine kinase family of enzymes. This family member is similar to a Drosophila protein that plays a key role in the Hedgehog signaling pathway. This human protein is a positive regulator of the GLI zinc-finger transcription factors. Knockout studies of the homologous mouse gene suggest that defects in this human gene may lead to congenital hydrocephalus, possibly due to a functional defect in motile cilia. Because Hedgehog signaling is frequently activated in certain kinds of gastrointestinal cancers, it has been suggested that this gene is a target for the treatment of these cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
http://nanbyodata.jp/ontology/NANDO_1200609	NANDO:1200609	STS	http://identifiers.org/ncbigene/412	412	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11425	HGNC:11425	steroid sulfatase	This gene encodes a multi-pass membrane protein that is localized to the endoplasmic reticulum. It belongs to the sulfatase family and hydrolyzes several 3-beta-hydroxysteroid sulfates, which serve as metabolic precursors for estrogens, androgens, and cholesterol. Mutations in this gene are associated with X-linked ichthyosis (XLI). Alternatively spliced transcript variants resulting from the use of different promoters have been described for this gene (PMID:17601726). [provided by RefSeq, Mar 2016]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	STX11	http://identifiers.org/ncbigene/8676	8676	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11429	HGNC:11429	syntaxin 11	This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200032	NANDO:2200032	STX11	http://identifiers.org/ncbigene/8676	8676	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11429	HGNC:11429	syntaxin 11	This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	STX11	http://identifiers.org/ncbigene/8676	8676	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11429	HGNC:11429	syntaxin 11	This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200730	NANDO:2200730	STX11	http://identifiers.org/ncbigene/8676	8676	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11429	HGNC:11429	syntaxin 11	This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200286	NANDO:2200286	STX1A	http://identifiers.org/ncbigene/6804	6804	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11433	HGNC:11433	syntaxin 1A	This gene encodes a member of the syntaxin superfamily. Syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane. Syntaxins possess a single C-terminal transmembrane domain, a SNARE [Soluble NSF (N-ethylmaleimide-sensitive fusion protein)-Attachment protein REceptor] domain (known as H3), and an N-terminal regulatory domain (Habc). Syntaxins bind synaptotagmin in a calcium-dependent fashion and interact with voltage dependent calcium and potassium channels via the C-terminal H3 domain. This gene product is a key molecule in ion channel regulation and synaptic exocytosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200591	NANDO:1200591	STXBP1	http://identifiers.org/ncbigene/6812	6812	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11444	HGNC:11444	syntaxin binding protein 1	This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1200592	NANDO:1200592	STXBP1	http://identifiers.org/ncbigene/6812	6812	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11444	HGNC:11444	syntaxin binding protein 1	This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1200593	NANDO:1200593	STXBP1	http://identifiers.org/ncbigene/6812	6812	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11444	HGNC:11444	syntaxin binding protein 1	This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2200878	NANDO:2200878	STXBP1	http://identifiers.org/ncbigene/6812	6812	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11444	HGNC:11444	syntaxin binding protein 1	This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2201398	NANDO:2201398	STXBP1	http://identifiers.org/ncbigene/6812	6812	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11444	HGNC:11444	syntaxin binding protein 1	This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2201403	NANDO:2201403	STXBP1	http://identifiers.org/ncbigene/6812	6812	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11444	HGNC:11444	syntaxin binding protein 1	This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	STXBP2	http://identifiers.org/ncbigene/6813	6813	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11445	HGNC:11445	syntaxin binding protein 2	This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	STXBP2	http://identifiers.org/ncbigene/6813	6813	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11445	HGNC:11445	syntaxin binding protein 2	This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]
http://nanbyodata.jp/ontology/NANDO_2200731	NANDO:2200731	STXBP2	http://identifiers.org/ncbigene/6813	6813	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11445	HGNC:11445	syntaxin binding protein 2	This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]
http://nanbyodata.jp/ontology/NANDO_2200521	NANDO:2200521	SUCLA2	http://identifiers.org/ncbigene/8803	8803	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11448	HGNC:11448	succinate-CoA ligase ADP-forming subunit beta	Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200523	NANDO:2200523	SUCLA2	http://identifiers.org/ncbigene/8803	8803	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11448	HGNC:11448	succinate-CoA ligase ADP-forming subunit beta	Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200521	NANDO:2200521	SUCLG1	http://identifiers.org/ncbigene/8802	8802	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11449	HGNC:11449	succinate-CoA ligase GDP/ADP-forming subunit alpha	This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion. [provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2200523	NANDO:2200523	SUCLG1	http://identifiers.org/ncbigene/8802	8802	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11449	HGNC:11449	succinate-CoA ligase GDP/ADP-forming subunit alpha	This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion. [provided by RefSeq, Feb 2010]
http://nanbyodata.jp/ontology/NANDO_2200521	NANDO:2200521	SUCLG2	http://identifiers.org/ncbigene/8801	8801	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11450	HGNC:11450	succinate-CoA ligase GDP-forming subunit beta	This gene encodes a GTP-specific beta subunit of succinyl-CoA synthetase. Succinyl-CoA synthetase catalyzes the reversible reaction involving the formation of succinyl-CoA and succinate. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 5 and 12. [provided by RefSeq, Apr 2010]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	SUFU	http://identifiers.org/ncbigene/51684	51684	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16466	HGNC:16466	SUFU negative regulator of hedgehog signaling	The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2200828	NANDO:2200828	SUFU	http://identifiers.org/ncbigene/51684	51684	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16466	HGNC:16466	SUFU negative regulator of hedgehog signaling	The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	SUMF1	http://identifiers.org/ncbigene/285362	285362	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20376	HGNC:20376	sulfatase modifying factor 1	This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200083	NANDO:1200083	SUMF1	http://identifiers.org/ncbigene/285362	285362	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20376	HGNC:20376	sulfatase modifying factor 1	This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200609	NANDO:1200609	SUMF1	http://identifiers.org/ncbigene/285362	285362	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20376	HGNC:20376	sulfatase modifying factor 1	This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2200566	NANDO:2200566	SUMF1	http://identifiers.org/ncbigene/285362	285362	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20376	HGNC:20376	sulfatase modifying factor 1	This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2200583	NANDO:2200583	SUOX	http://identifiers.org/ncbigene/6821	6821	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11460	HGNC:11460	sulfite oxidase	Sulfite oxidase is a homodimeric protein localized to the intermembrane space of mitochondria. Each subunit contains a heme domain and a molybdopterin-binding domain. The enzyme catalyzes the oxidation of sulfite to sulfate, the final reaction in the oxidative degradation of the sulfur amino acids cysteine and methionine. Sulfite oxidase deficiency results in neurological abnormalities which are often fatal at an early age. Alternative splicing results in multiple transcript variants encoding identical proteins. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	SURF1	http://identifiers.org/ncbigene/6834	6834	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11474	HGNC:11474	SURF1 cytochrome c oxidase assembly factor	This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200173	NANDO:1200173	SURF1	http://identifiers.org/ncbigene/6834	6834	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11474	HGNC:11474	SURF1 cytochrome c oxidase assembly factor	This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200863	NANDO:2200863	SYNE1	http://identifiers.org/ncbigene/23345	23345	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17089	HGNC:17089	spectrin repeat containing nuclear envelope protein 1	This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200882	NANDO:2200882	SYNE1	http://identifiers.org/ncbigene/23345	23345	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17089	HGNC:17089	spectrin repeat containing nuclear envelope protein 1	This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200061	NANDO:2200061	SYT1	http://identifiers.org/ncbigene/6857	6857	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11509	HGNC:11509	synaptotagmin 1	The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001 [PubMed 11242035]).[supplied by OMIM, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_1200021	NANDO:1200021	SYT2	http://identifiers.org/ncbigene/127833	127833	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11510	HGNC:11510	synaptotagmin 2	This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated with myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
http://nanbyodata.jp/ontology/NANDO_2200370	NANDO:2200370	StAR	http://identifiers.org/ncbigene/6770	6770	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11359	HGNC:11359	steroidogenic acute regulatory protein	The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201006	NANDO:1201006	TACSTD2	http://identifiers.org/ncbigene/4070	4070	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11530	HGNC:11530	tumor associated calcium signal transducer 2	This intronless gene encodes a carcinoma-associated antigen. This antigen is a cell surface receptor that transduces calcium signals. Mutations of this gene have been associated with gelatinous drop-like corneal dystrophy.[provided by RefSeq, Dec 2009]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	TAF1	http://identifiers.org/ncbigene/6872	6872	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11535	HGNC:11535	TATA-box binding protein associated factor 1	Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor TFIID, which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N- and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. Mutations in this gene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing of this gene results in multiple transcript variants. This gene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons. [provided by RefSeq, Oct 2013]
http://nanbyodata.jp/ontology/NANDO_1200514	NANDO:1200514	TAF1	http://identifiers.org/ncbigene/6872	6872	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11535	HGNC:11535	TATA-box binding protein associated factor 1	Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor TFIID, which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N- and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. Mutations in this gene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing of this gene results in multiple transcript variants. This gene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons. [provided by RefSeq, Oct 2013]
http://nanbyodata.jp/ontology/NANDO_1200989	NANDO:1200989	TAFAZZIN	http://identifiers.org/ncbigene/6901	6901	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11577	HGNC:11577	tafazzin, phospholipid-lysophospholipid transacylase	This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200991	NANDO:1200991	TAFAZZIN	http://identifiers.org/ncbigene/6901	6901	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11577	HGNC:11577	tafazzin, phospholipid-lysophospholipid transacylase	This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200231	NANDO:2200231	TAFAZZIN	http://identifiers.org/ncbigene/6901	6901	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11577	HGNC:11577	tafazzin, phospholipid-lysophospholipid transacylase	This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200496	NANDO:2200496	TAFAZZIN	http://identifiers.org/ncbigene/6901	6901	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11577	HGNC:11577	tafazzin, phospholipid-lysophospholipid transacylase	This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200747	NANDO:2200747	TAFAZZIN	http://identifiers.org/ncbigene/6901	6901	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11577	HGNC:11577	tafazzin, phospholipid-lysophospholipid transacylase	This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200751	NANDO:2200751	TAFAZZIN	http://identifiers.org/ncbigene/6901	6901	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11577	HGNC:11577	tafazzin, phospholipid-lysophospholipid transacylase	This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	TAP1	http://identifiers.org/ncbigene/6890	6890	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:43	HGNC:43	transporter 1, ATP binding cassette subfamily B member	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum into the membrane-bound compartment where class I molecules assemble. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_1200328	NANDO:1200328	TAP1	http://identifiers.org/ncbigene/6890	6890	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:43	HGNC:43	transporter 1, ATP binding cassette subfamily B member	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum into the membrane-bound compartment where class I molecules assemble. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_2200701	NANDO:2200701	TAP1	http://identifiers.org/ncbigene/6890	6890	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:43	HGNC:43	transporter 1, ATP binding cassette subfamily B member	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum into the membrane-bound compartment where class I molecules assemble. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	TAP2	http://identifiers.org/ncbigene/6891	6891	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:44	HGNC:44	transporter 2, ATP binding cassette subfamily B member	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. This gene is located 7 kb telomeric to gene family member ABCB2. The protein encoded by this gene is involved in antigen presentation. This protein forms a heterodimer with ABCB2 in order to transport peptides from the cytoplasm to the endoplasmic reticulum. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Alternative splicing of this gene produces products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules. [provided by RefSeq, Feb 2014]
http://nanbyodata.jp/ontology/NANDO_1200328	NANDO:1200328	TAP2	http://identifiers.org/ncbigene/6891	6891	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:44	HGNC:44	transporter 2, ATP binding cassette subfamily B member	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. This gene is located 7 kb telomeric to gene family member ABCB2. The protein encoded by this gene is involved in antigen presentation. This protein forms a heterodimer with ABCB2 in order to transport peptides from the cytoplasm to the endoplasmic reticulum. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Alternative splicing of this gene produces products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules. [provided by RefSeq, Feb 2014]
http://nanbyodata.jp/ontology/NANDO_2200701	NANDO:2200701	TAP2	http://identifiers.org/ncbigene/6891	6891	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:44	HGNC:44	transporter 2, ATP binding cassette subfamily B member	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. This gene is located 7 kb telomeric to gene family member ABCB2. The protein encoded by this gene is involved in antigen presentation. This protein forms a heterodimer with ABCB2 in order to transport peptides from the cytoplasm to the endoplasmic reticulum. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Alternative splicing of this gene produces products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules. [provided by RefSeq, Feb 2014]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	TAPBP	http://identifiers.org/ncbigene/6892	6892	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11566	HGNC:11566	TAP binding protein	This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200328	NANDO:1200328	TAPBP	http://identifiers.org/ncbigene/6892	6892	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11566	HGNC:11566	TAP binding protein	This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200701	NANDO:2200701	TAPBP	http://identifiers.org/ncbigene/6892	6892	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11566	HGNC:11566	TAP binding protein	This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200002	NANDO:1200002	TARDBP	http://identifiers.org/ncbigene/23435	23435	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11571	HGNC:11571	TAR DNA binding protein	HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200008	NANDO:1200008	TARDBP	http://identifiers.org/ncbigene/23435	23435	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11571	HGNC:11571	TAR DNA binding protein	HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200548	NANDO:1200548	TARDBP	http://identifiers.org/ncbigene/23435	23435	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11571	HGNC:11571	TAR DNA binding protein	HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200789	NANDO:1200789	TAT	http://identifiers.org/ncbigene/6898	6898	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11573	HGNC:11573	tyrosine aminotransferase	This nuclear gene encodes a mitochondrial protein tyrosine aminotransferase which is present in the liver and catalyzes the conversion of L-tyrosine into p-hydroxyphenylpyruvate. Mutations in this gene cause tyrosinemia (type II, Richner-Hanhart syndrome), a disorder accompanied by major skin and corneal lesions, with possible cognitive disability. A regulator gene for tyrosine aminotransferase is X-linked. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200595	NANDO:1200595	TBC1D24	http://identifiers.org/ncbigene/57465	57465	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29203	HGNC:29203	TBC1 domain family member 24	This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_2201408	NANDO:2201408	TBC1D24	http://identifiers.org/ncbigene/57465	57465	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29203	HGNC:29203	TBC1 domain family member 24	This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	TBK1	http://identifiers.org/ncbigene/29110	29110	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11584	HGNC:11584	TANK binding kinase 1	The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. [provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_2200765	NANDO:2200765	TBK1	http://identifiers.org/ncbigene/29110	29110	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11584	HGNC:11584	TANK binding kinase 1	The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. [provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_2200772	NANDO:2200772	TBK1	http://identifiers.org/ncbigene/29110	29110	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11584	HGNC:11584	TANK binding kinase 1	The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. [provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_1200037	NANDO:1200037	TBP	http://identifiers.org/ncbigene/6908	6908	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11588	HGNC:11588	TATA-box binding protein	Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes TBP, the TATA-binding protein. A distinctive feature of TBP is a long string of glutamines in the N-terminus. This region of the protein modulates the DNA binding activity of the C terminus, and modulation of DNA binding affects the rate of transcription complex formation and initiation of transcription. The number of CAG repeats encoding the polyglutamine tract is usually 25-42, and expansion of the number of repeats to 45-66 increases the length of the polyglutamine string and is associated with spinocerebellar ataxia 17, a neurodegenerative disorder classified as a polyglutamine disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2200882	NANDO:2200882	TBP	http://identifiers.org/ncbigene/6908	6908	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11588	HGNC:11588	TATA-box binding protein	Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes TBP, the TATA-binding protein. A distinctive feature of TBP is a long string of glutamines in the N-terminus. This region of the protein modulates the DNA binding activity of the C terminus, and modulation of DNA binding affects the rate of transcription complex formation and initiation of transcription. The number of CAG repeats encoding the polyglutamine tract is usually 25-42, and expansion of the number of repeats to 45-66 increases the length of the polyglutamine string and is associated with spinocerebellar ataxia 17, a neurodegenerative disorder classified as a polyglutamine disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	TBX1	http://identifiers.org/ncbigene/6899	6899	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11592	HGNC:11592	T-box transcription factor 1	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200339	NANDO:1200339	TBX1	http://identifiers.org/ncbigene/6899	6899	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11592	HGNC:11592	T-box transcription factor 1	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200693	NANDO:1200693	TBX1	http://identifiers.org/ncbigene/6899	6899	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11592	HGNC:11592	T-box transcription factor 1	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200708	NANDO:1200708	TBX1	http://identifiers.org/ncbigene/6899	6899	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11592	HGNC:11592	T-box transcription factor 1	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200709	NANDO:1200709	TBX1	http://identifiers.org/ncbigene/6899	6899	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11592	HGNC:11592	T-box transcription factor 1	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200344	NANDO:2200344	TBX1	http://identifiers.org/ncbigene/6899	6899	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11592	HGNC:11592	T-box transcription factor 1	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200712	NANDO:2200712	TBX1	http://identifiers.org/ncbigene/6899	6899	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11592	HGNC:11592	T-box transcription factor 1	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200379	NANDO:1200379	TBX19	http://identifiers.org/ncbigene/9095	9095	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11596	HGNC:11596	T-box transcription factor 19	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200355	NANDO:2200355	TBX19	http://identifiers.org/ncbigene/9095	9095	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11596	HGNC:11596	T-box transcription factor 19	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201392	NANDO:2201392	TBX5	http://identifiers.org/ncbigene/6910	6910	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11604	HGNC:11604	T-box transcription factor 5	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200001	NANDO:2200001	TCF3	http://identifiers.org/ncbigene/6929	6929	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11633	HGNC:11633	transcription factor 3	This gene encodes a member of the E protein (class I) family of helix-loop-helix transcription factors. E proteins activate transcription by binding to regulatory E-box sequences on target genes as heterodimers or homodimers, and are inhibited by heterodimerization with inhibitor of DNA-binding (class IV) helix-loop-helix proteins. E proteins play a critical role in lymphopoiesis, and the encoded protein is required for B and T lymphocyte development. Deletion of this gene or diminished activity of the encoded protein may play a role in lymphoid malignancies. This gene is also involved in several chromosomal translocations that are associated with lymphoid malignancies including pre-B-cell acute lymphoblastic leukemia (t(1;19), with PBX1), childhood leukemia (t(19;19), with TFPT) and acute leukemia (t(12;19), with ZNF384). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Sep 2011]
http://nanbyodata.jp/ontology/NANDO_2201415	NANDO:2201415	TCF4	http://identifiers.org/ncbigene/6925	6925	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11634	HGNC:11634	transcription factor 4	This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2201419	NANDO:2201419	TCF4	http://identifiers.org/ncbigene/6925	6925	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11634	HGNC:11634	transcription factor 4	This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_1200998	NANDO:1200998	TCIRG1	http://identifiers.org/ncbigene/10312	10312	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11647	HGNC:11647	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environment. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Alternative splicing results in multiple transcript variants. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, May 2017]
http://nanbyodata.jp/ontology/NANDO_2201013	NANDO:2201013	TCIRG1	http://identifiers.org/ncbigene/10312	10312	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11647	HGNC:11647	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environment. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Alternative splicing results in multiple transcript variants. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, May 2017]
http://nanbyodata.jp/ontology/NANDO_2201526	NANDO:2201526	TCOF1	http://identifiers.org/ncbigene/6949	6949	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11654	HGNC:11654	treacle ribosome biogenesis factor 1	This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	TCTN1	http://identifiers.org/ncbigene/79600	79600	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26113	HGNC:26113	tectonic family member 1	This gene encodes a member of a family of secreted and transmembrane proteins. The orthologous gene in mouse functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. This protein is a component of the tectonic-like complex, which forms a barrier between the ciliary axoneme and the basal body. A mutation in this gene was found in a family with Joubert syndrome-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	TCTN2	http://identifiers.org/ncbigene/79867	79867	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25774	HGNC:25774	tectonic family member 2	This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	TCTN3	http://identifiers.org/ncbigene/26123	26123	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24519	HGNC:24519	tectonic family member 3	This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	TDP1	http://identifiers.org/ncbigene/55775	55775	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18884	HGNC:18884	tyrosyl-DNA phosphodiesterase 1	The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). [provided by RefSeq, Aug 2016]
http://nanbyodata.jp/ontology/NANDO_1200945	NANDO:1200945	TECTA	http://identifiers.org/ncbigene/7007	7007	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11720	HGNC:11720	tectorin alpha	The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane.  Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201027	NANDO:2201027	TEK	http://identifiers.org/ncbigene/7010	7010	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11724	HGNC:11724	TEK receptor tyrosine kinase	This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]
http://nanbyodata.jp/ontology/NANDO_2201028	NANDO:2201028	TEK	http://identifiers.org/ncbigene/7010	7010	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11724	HGNC:11724	TEK receptor tyrosine kinase	This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	TERC	http://identifiers.org/ncbigene/7012	7012	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11727	HGNC:11727	telomerase RNA component	Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, and an RNA component, encoded by this gene, that serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200342	NANDO:1200342	TERC	http://identifiers.org/ncbigene/7012	7012	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11727	HGNC:11727	telomerase RNA component	Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, and an RNA component, encoded by this gene, that serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200715	NANDO:2200715	TERC	http://identifiers.org/ncbigene/7012	7012	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11727	HGNC:11727	telomerase RNA component	Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, and an RNA component, encoded by this gene, that serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	TERT	http://identifiers.org/ncbigene/7015	7015	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11730	HGNC:11730	telomerase reverse transcriptase	Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200342	NANDO:1200342	TERT	http://identifiers.org/ncbigene/7015	7015	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11730	HGNC:11730	telomerase reverse transcriptase	Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200715	NANDO:2200715	TERT	http://identifiers.org/ncbigene/7015	7015	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11730	HGNC:11730	telomerase reverse transcriptase	Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200014	NANDO:2200014	TET2	http://identifiers.org/ncbigene/54790	54790	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25941	HGNC:25941	tet methylcytosine dioxygenase 2	The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defects in this gene have been associated with several myeloproliferative disorders. Two variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2200617	NANDO:2200617	TF	http://identifiers.org/ncbigene/7018	7018	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11740	HGNC:11740	transferrin	This gene encodes a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds one ion of ferric iron. The function of this protein is to transport iron from the intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. This protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter and allergens from serum. [provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2200063	NANDO:2200063	TFE3	http://identifiers.org/ncbigene/7030	7030	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11752	HGNC:11752	transcription factor binding to IGHM enhancer 3	This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta) signaling. This gene may be involved in chromosomal translocations in renal cell carcinomas and other cancers, resulting in the production of fusion proteins. Translocation partners include PRCC (papillary renal cell carcinoma), NONO (non-POU domain containing, octamer-binding), and ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1), among other genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	TFG	http://identifiers.org/ncbigene/10342	10342	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11758	HGNC:11758	trafficking from ER to golgi regulator	There are several documented fusion oncoproteins encoded partially by this gene. This gene also participates in several oncogenic rearrangements resulting in anaplastic lymphoma and mixoid chondrosarcoma, and may play a role in the NF-kappaB pathway. Multiple transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]
http://nanbyodata.jp/ontology/NANDO_2200334	NANDO:2200334	TG	http://identifiers.org/ncbigene/7038	7038	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11764	HGNC:11764	thyroglobulin	Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009]
http://nanbyodata.jp/ontology/NANDO_2200970	NANDO:2200970	TGFB1	http://identifiers.org/ncbigene/7040	7040	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11766	HGNC:11766	transforming growth factor beta 1	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]
http://nanbyodata.jp/ontology/NANDO_1200644	NANDO:1200644	TGFB2	http://identifiers.org/ncbigene/7042	7042	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11768	HGNC:11768	transforming growth factor beta 2	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers. A chromosomal translocation that includes this gene is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. Mutations in this gene may be associated with Loeys-Dietz syndrome. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]
http://nanbyodata.jp/ontology/NANDO_2200968	NANDO:2200968	TGFB2	http://identifiers.org/ncbigene/7042	7042	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11768	HGNC:11768	transforming growth factor beta 2	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers. A chromosomal translocation that includes this gene is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. Mutations in this gene may be associated with Loeys-Dietz syndrome. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]
http://nanbyodata.jp/ontology/NANDO_2200969	NANDO:2200969	TGFB2	http://identifiers.org/ncbigene/7042	7042	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11768	HGNC:11768	transforming growth factor beta 2	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers. A chromosomal translocation that includes this gene is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. Mutations in this gene may be associated with Loeys-Dietz syndrome. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]
http://nanbyodata.jp/ontology/NANDO_1200644	NANDO:1200644	TGFB3	http://identifiers.org/ncbigene/7043	7043	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11769	HGNC:11769	transforming growth factor beta 3	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016]
http://nanbyodata.jp/ontology/NANDO_2200969	NANDO:2200969	TGFB3	http://identifiers.org/ncbigene/7043	7043	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11769	HGNC:11769	transforming growth factor beta 3	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016]
http://nanbyodata.jp/ontology/NANDO_1200644	NANDO:1200644	TGFBR1	http://identifiers.org/ncbigene/7046	7046	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11772	HGNC:11772	transforming growth factor beta receptor 1	The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
http://nanbyodata.jp/ontology/NANDO_2200968	NANDO:2200968	TGFBR1	http://identifiers.org/ncbigene/7046	7046	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11772	HGNC:11772	transforming growth factor beta receptor 1	The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
http://nanbyodata.jp/ontology/NANDO_2200969	NANDO:2200969	TGFBR1	http://identifiers.org/ncbigene/7046	7046	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11772	HGNC:11772	transforming growth factor beta receptor 1	The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
http://nanbyodata.jp/ontology/NANDO_1200644	NANDO:1200644	TGFBR2	http://identifiers.org/ncbigene/7048	7048	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11773	HGNC:11773	transforming growth factor beta receptor 2	The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200968	NANDO:2200968	TGFBR2	http://identifiers.org/ncbigene/7048	7048	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11773	HGNC:11773	transforming growth factor beta receptor 2	The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200969	NANDO:2200969	TGFBR2	http://identifiers.org/ncbigene/7048	7048	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11773	HGNC:11773	transforming growth factor beta receptor 2	The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200819	NANDO:2200819	TGIF1	http://identifiers.org/ncbigene/7050	7050	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11776	HGNC:11776	TGFB induced factor homeobox 1	The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and multiple splice variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_1200609	NANDO:1200609	TGM1	http://identifiers.org/ncbigene/7051	7051	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11777	HGNC:11777	transglutaminase 1	The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200991	NANDO:2200991	TGM1	http://identifiers.org/ncbigene/7051	7051	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11777	HGNC:11777	transglutaminase 1	The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	TH	http://identifiers.org/ncbigene/7054	7054	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11782	HGNC:11782	tyrosine hydroxylase	The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200516	NANDO:1200516	TH	http://identifiers.org/ncbigene/7054	7054	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11782	HGNC:11782	tyrosine hydroxylase	The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200595	NANDO:2200595	TH	http://identifiers.org/ncbigene/7054	7054	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11782	HGNC:11782	tyrosine hydroxylase	The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	THAP1	http://identifiers.org/ncbigene/55145	55145	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20856	HGNC:20856	THAP domain containing 1	The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200517	NANDO:1200517	THAP1	http://identifiers.org/ncbigene/55145	55145	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20856	HGNC:20856	THAP domain containing 1	The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200473	NANDO:1200473	THBD	http://identifiers.org/ncbigene/7056	7056	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11784	HGNC:11784	thrombomodulin	The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201112	NANDO:1201112	THBD	http://identifiers.org/ncbigene/7056	7056	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11784	HGNC:11784	thrombomodulin	The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201115	NANDO:1201115	THBD	http://identifiers.org/ncbigene/7056	7056	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11784	HGNC:11784	thrombomodulin	The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200131	NANDO:2200131	THBD	http://identifiers.org/ncbigene/7056	7056	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11784	HGNC:11784	thrombomodulin	The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200395	NANDO:1200395	THRB	http://identifiers.org/ncbigene/7068	7068	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11799	HGNC:11799	thyroid hormone receptor beta	The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200341	NANDO:2200341	THRB	http://identifiers.org/ncbigene/7068	7068	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11799	HGNC:11799	thyroid hormone receptor beta	The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200216	NANDO:1200216	TIA1	http://identifiers.org/ncbigene/7072	7072	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11802	HGNC:11802	TIA1 cytotoxic granule associated RNA binding protein	The product encoded by this gene is a member of a RNA-binding protein family and possesses nucleolytic activity against cytotoxic lymphocyte (CTL) target cells. It has been suggested that this protein may be involved in the induction of apoptosis as it preferentially recognizes poly(A) homopolymers and induces DNA fragmentation in CTL targets. The major granule-associated species is a 15-kDa protein that is thought to be derived from the carboxyl terminus of the 40-kDa product by proteolytic processing. Alternative splicing resulting in different isoforms has been found for this gene. [provided by RefSeq, May 2017]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	TICAM1	http://identifiers.org/ncbigene/148022	148022	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18348	HGNC:18348	toll like receptor adaptor molecule 1	This gene encodes an adaptor protein containing a Toll/interleukin-1 receptor (TIR) homology domain, which is an intracellular signaling domain that mediates protein-protein interactions between the Toll-like receptors (TLRs) and signal-transduction components. This protein is involved in native immunity against invading pathogens. It specifically interacts with toll-like receptor 3, but not with other TLRs, and this association mediates dsRNA induction of interferon-beta through activation of nuclear factor kappa-B, during an antiviral immune response. Mutations in this gene are associated with encephalopathy, acute, infection-induced. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_2200765	NANDO:2200765	TICAM1	http://identifiers.org/ncbigene/148022	148022	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18348	HGNC:18348	toll like receptor adaptor molecule 1	This gene encodes an adaptor protein containing a Toll/interleukin-1 receptor (TIR) homology domain, which is an intracellular signaling domain that mediates protein-protein interactions between the Toll-like receptors (TLRs) and signal-transduction components. This protein is involved in native immunity against invading pathogens. It specifically interacts with toll-like receptor 3, but not with other TLRs, and this association mediates dsRNA induction of interferon-beta through activation of nuclear factor kappa-B, during an antiviral immune response. Mutations in this gene are associated with encephalopathy, acute, infection-induced. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_2200772	NANDO:2200772	TICAM1	http://identifiers.org/ncbigene/148022	148022	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18348	HGNC:18348	toll like receptor adaptor molecule 1	This gene encodes an adaptor protein containing a Toll/interleukin-1 receptor (TIR) homology domain, which is an intracellular signaling domain that mediates protein-protein interactions between the Toll-like receptors (TLRs) and signal-transduction components. This protein is involved in native immunity against invading pathogens. It specifically interacts with toll-like receptor 3, but not with other TLRs, and this association mediates dsRNA induction of interferon-beta through activation of nuclear factor kappa-B, during an antiviral immune response. Mutations in this gene are associated with encephalopathy, acute, infection-induced. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	TINF2	http://identifiers.org/ncbigene/26277	26277	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11824	HGNC:11824	TERF1 interacting nuclear factor 2	This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200342	NANDO:1200342	TINF2	http://identifiers.org/ncbigene/26277	26277	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11824	HGNC:11824	TERF1 interacting nuclear factor 2	This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_2200715	NANDO:2200715	TINF2	http://identifiers.org/ncbigene/26277	26277	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11824	HGNC:11824	TERF1 interacting nuclear factor 2	This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1201042	NANDO:1201042	TJP2	http://identifiers.org/ncbigene/9414	9414	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11828	HGNC:11828	tight junction protein 2	This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
http://nanbyodata.jp/ontology/NANDO_1201046	NANDO:1201046	TJP2	http://identifiers.org/ncbigene/9414	9414	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11828	HGNC:11828	tight junction protein 2	This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
http://nanbyodata.jp/ontology/NANDO_1200037	NANDO:1200037	TK2	http://identifiers.org/ncbigene/7084	7084	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11831	HGNC:11831	thymidine kinase 2	This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012]
http://nanbyodata.jp/ontology/NANDO_2200523	NANDO:2200523	TK2	http://identifiers.org/ncbigene/7084	7084	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11831	HGNC:11831	thymidine kinase 2	This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	TLR3	http://identifiers.org/ncbigene/7098	7098	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11849	HGNC:11849	toll like receptor 3	The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor is most abundantly expressed in placenta and pancreas, and is restricted to the dendritic subpopulation of the leukocytes. It recognizes dsRNA associated with viral infection, and induces the activation of NF-kappaB and the production of type I interferons. It thus plays a role in host defense against multiple viruses. [provided by RefSeq, Jul 2021]
http://nanbyodata.jp/ontology/NANDO_2200765	NANDO:2200765	TLR3	http://identifiers.org/ncbigene/7098	7098	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11849	HGNC:11849	toll like receptor 3	The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor is most abundantly expressed in placenta and pancreas, and is restricted to the dendritic subpopulation of the leukocytes. It recognizes dsRNA associated with viral infection, and induces the activation of NF-kappaB and the production of type I interferons. It thus plays a role in host defense against multiple viruses. [provided by RefSeq, Jul 2021]
http://nanbyodata.jp/ontology/NANDO_2200772	NANDO:2200772	TLR3	http://identifiers.org/ncbigene/7098	7098	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11849	HGNC:11849	toll like receptor 3	The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor is most abundantly expressed in placenta and pancreas, and is restricted to the dendritic subpopulation of the leukocytes. It recognizes dsRNA associated with viral infection, and induces the activation of NF-kappaB and the production of type I interferons. It thus plays a role in host defense against multiple viruses. [provided by RefSeq, Jul 2021]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	TMC6	http://identifiers.org/ncbigene/11322	11322	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18021	HGNC:18021	transmembrane channel like 6	Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200765	NANDO:2200765	TMC6	http://identifiers.org/ncbigene/11322	11322	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18021	HGNC:18021	transmembrane channel like 6	Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200768	NANDO:2200768	TMC6	http://identifiers.org/ncbigene/11322	11322	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18021	HGNC:18021	transmembrane channel like 6	Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	TMC8	http://identifiers.org/ncbigene/147138	147138	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20474	HGNC:20474	transmembrane channel like 8	Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200765	NANDO:2200765	TMC8	http://identifiers.org/ncbigene/147138	147138	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20474	HGNC:20474	transmembrane channel like 8	Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200768	NANDO:2200768	TMC8	http://identifiers.org/ncbigene/147138	147138	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20474	HGNC:20474	transmembrane channel like 8	Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	TMEM107	http://identifiers.org/ncbigene/84314	84314	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28128	HGNC:28128	transmembrane protein 107	This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of cilia, altered cilia length, and impaired sonic hedgehog signaling. In human patients, different mutations in this gene cause different ciliopathies, including Meckel-Gruber syndrome and orofaciodigital syndrome. [provided by RefSeq, May 2017]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	TMEM138	http://identifiers.org/ncbigene/51524	51524	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26944	HGNC:26944	transmembrane protein 138	This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinated with expression of the neighboring gene TMEM216. Mutations in this gene are associated with the autosomal recessive neurodevelopmental disorder Joubert Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	TMEM216	http://identifiers.org/ncbigene/51259	51259	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25018	HGNC:25018	transmembrane protein 216	This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	TMEM231	http://identifiers.org/ncbigene/79583	79583	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:37234	HGNC:37234	transmembrane protein 231	This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	TMEM237	http://identifiers.org/ncbigene/65062	65062	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14432	HGNC:14432	transmembrane protein 237	The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
http://nanbyodata.jp/ontology/NANDO_1200873	NANDO:1200873	TMEM38B	http://identifiers.org/ncbigene/55151	55151	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25535	HGNC:25535	transmembrane protein 38B	This gene encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Mutations in this gene may be associated with autosomal recessive osteogenesis. [provided by RefSeq, Oct 2012]
http://nanbyodata.jp/ontology/NANDO_2201011	NANDO:2201011	TMEM38B	http://identifiers.org/ncbigene/55151	55151	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25535	HGNC:25535	transmembrane protein 38B	This gene encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Mutations in this gene may be associated with autosomal recessive osteogenesis. [provided by RefSeq, Oct 2012]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	TMEM67	http://identifiers.org/ncbigene/91147	91147	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28396	HGNC:28396	transmembrane protein 67	The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	TMEM67	http://identifiers.org/ncbigene/91147	91147	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28396	HGNC:28396	transmembrane protein 67	The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_2200140	NANDO:2200140	TMEM67	http://identifiers.org/ncbigene/91147	91147	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28396	HGNC:28396	transmembrane protein 67	The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_2200824	NANDO:2200824	TMEM67	http://identifiers.org/ncbigene/91147	91147	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28396	HGNC:28396	transmembrane protein 67	The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]
http://nanbyodata.jp/ontology/NANDO_2200910	NANDO:2200910	TMPRSS15	http://identifiers.org/ncbigene/5651	5651	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9490	HGNC:9490	transmembrane serine protease 15	This gene encodes an enzyme that converts the pancreatic proenzyme trypsinogen to trypsin, which activates other proenzymes including chymotrypsinogen and procarboxypeptidases. The precursor protein is cleaved into two chains that form a heterodimer linked by a disulfide bond. This protein is a member of the trypsin family of peptidases. Mutations in this gene cause enterokinase deficiency, a malabsorption disorder characterized by diarrhea and failure to thrive. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200945	NANDO:1200945	TMPRSS3	http://identifiers.org/ncbigene/64699	64699	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11877	HGNC:11877	transmembrane serine protease 3	This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
http://nanbyodata.jp/ontology/NANDO_1200993	NANDO:1200993	TNFAIP3	http://identifiers.org/ncbigene/7128	7128	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11896	HGNC:11896	TNF alpha induced protein 3	This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein and ubiqitin-editing enzyme, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. The encoded protein, which has both ubiquitin ligase and deubiquitinase activities, is involved in the cytokine-mediated immune and inflammatory responses. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2012]
http://nanbyodata.jp/ontology/NANDO_1200997	NANDO:1200997	TNFAIP3	http://identifiers.org/ncbigene/7128	7128	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11896	HGNC:11896	TNF alpha induced protein 3	This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein and ubiqitin-editing enzyme, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. The encoded protein, which has both ubiquitin ligase and deubiquitinase activities, is involved in the cytokine-mediated immune and inflammatory responses. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2012]
http://nanbyodata.jp/ontology/NANDO_2200440	NANDO:2200440	TNFAIP3	http://identifiers.org/ncbigene/7128	7128	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11896	HGNC:11896	TNF alpha induced protein 3	This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein and ubiqitin-editing enzyme, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. The encoded protein, which has both ubiquitin ligase and deubiquitinase activities, is involved in the cytokine-mediated immune and inflammatory responses. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2012]
http://nanbyodata.jp/ontology/NANDO_2200458	NANDO:2200458	TNFAIP3	http://identifiers.org/ncbigene/7128	7128	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11896	HGNC:11896	TNF alpha induced protein 3	This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein and ubiqitin-editing enzyme, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. The encoded protein, which has both ubiquitin ligase and deubiquitinase activities, is involved in the cytokine-mediated immune and inflammatory responses. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2012]
http://nanbyodata.jp/ontology/NANDO_1200998	NANDO:1200998	TNFRSF11A	http://identifiers.org/ncbigene/8792	8792	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11908	HGNC:11908	TNF receptor superfamily member 11a	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_2201013	NANDO:2201013	TNFRSF11A	http://identifiers.org/ncbigene/8792	8792	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11908	HGNC:11908	TNF receptor superfamily member 11a	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	TNFRSF13B	http://identifiers.org/ncbigene/23495	23495	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18153	HGNC:18153	TNF receptor superfamily member 13B	The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200344	NANDO:1200344	TNFRSF13B	http://identifiers.org/ncbigene/23495	23495	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18153	HGNC:18153	TNF receptor superfamily member 13B	The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200717	NANDO:2200717	TNFRSF13B	http://identifiers.org/ncbigene/23495	23495	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18153	HGNC:18153	TNF receptor superfamily member 13B	The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200720	NANDO:2200720	TNFRSF13B	http://identifiers.org/ncbigene/23495	23495	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18153	HGNC:18153	TNF receptor superfamily member 13B	The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	TNFRSF13C	http://identifiers.org/ncbigene/115650	115650	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17755	HGNC:17755	TNF receptor superfamily member 13C	B cell-activating factor (BAFF) enhances B-cell survival in vitro and is a regulator of the peripheral B-cell population. Overexpression of Baff in mice results in mature B-cell hyperplasia and symptoms of systemic lupus erythematosus (SLE). Also, some SLE patients have increased levels of BAFF in serum. Therefore, it has been proposed that abnormally high levels of BAFF may contribute to the pathogenesis of autoimmune diseases by enhancing the survival of autoreactive B cells. The protein encoded by this gene is a receptor for BAFF and is a type III transmembrane protein containing a single extracellular cysteine-rich domain. It is thought that this receptor is the principal receptor required for BAFF-mediated mature B-cell survival. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200344	NANDO:1200344	TNFRSF13C	http://identifiers.org/ncbigene/115650	115650	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17755	HGNC:17755	TNF receptor superfamily member 13C	B cell-activating factor (BAFF) enhances B-cell survival in vitro and is a regulator of the peripheral B-cell population. Overexpression of Baff in mice results in mature B-cell hyperplasia and symptoms of systemic lupus erythematosus (SLE). Also, some SLE patients have increased levels of BAFF in serum. Therefore, it has been proposed that abnormally high levels of BAFF may contribute to the pathogenesis of autoimmune diseases by enhancing the survival of autoreactive B cells. The protein encoded by this gene is a receptor for BAFF and is a type III transmembrane protein containing a single extracellular cysteine-rich domain. It is thought that this receptor is the principal receptor required for BAFF-mediated mature B-cell survival. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200717	NANDO:2200717	TNFRSF13C	http://identifiers.org/ncbigene/115650	115650	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17755	HGNC:17755	TNF receptor superfamily member 13C	B cell-activating factor (BAFF) enhances B-cell survival in vitro and is a regulator of the peripheral B-cell population. Overexpression of Baff in mice results in mature B-cell hyperplasia and symptoms of systemic lupus erythematosus (SLE). Also, some SLE patients have increased levels of BAFF in serum. Therefore, it has been proposed that abnormally high levels of BAFF may contribute to the pathogenesis of autoimmune diseases by enhancing the survival of autoreactive B cells. The protein encoded by this gene is a receptor for BAFF and is a type III transmembrane protein containing a single extracellular cysteine-rich domain. It is thought that this receptor is the principal receptor required for BAFF-mediated mature B-cell survival. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200472	NANDO:1200472	TNFRSF1A	http://identifiers.org/ncbigene/7132	7132	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11916	HGNC:11916	TNF receptor superfamily member 1A	This gene encodes a member of the TNF receptor superfamily of proteins. The encoded receptor is found in membrane-bound and soluble forms that interact with membrane-bound and soluble forms, respectively, of its ligand, tumor necrosis factor alpha. Binding of membrane-bound tumor necrosis factor alpha to the membrane-bound receptor induces receptor trimerization and activation, which plays a role in cell survival, apoptosis, and inflammation. Proteolytic processing of the encoded receptor results in release of the soluble form of the receptor, which can interact with free tumor necrosis factor alpha to inhibit inflammation. Mutations in this gene underlie tumor necrosis factor receptor-associated periodic syndrome (TRAPS), characterized by fever, abdominal pain and other features. Mutations in this gene may also be associated with multiple sclerosis in human patients. [provided by RefSeq, Sep 2016]
http://nanbyodata.jp/ontology/NANDO_2200433	NANDO:2200433	TNFRSF1A	http://identifiers.org/ncbigene/7132	7132	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11916	HGNC:11916	TNF receptor superfamily member 1A	This gene encodes a member of the TNF receptor superfamily of proteins. The encoded receptor is found in membrane-bound and soluble forms that interact with membrane-bound and soluble forms, respectively, of its ligand, tumor necrosis factor alpha. Binding of membrane-bound tumor necrosis factor alpha to the membrane-bound receptor induces receptor trimerization and activation, which plays a role in cell survival, apoptosis, and inflammation. Proteolytic processing of the encoded receptor results in release of the soluble form of the receptor, which can interact with free tumor necrosis factor alpha to inhibit inflammation. Mutations in this gene underlie tumor necrosis factor receptor-associated periodic syndrome (TRAPS), characterized by fever, abdominal pain and other features. Mutations in this gene may also be associated with multiple sclerosis in human patients. [provided by RefSeq, Sep 2016]
http://nanbyodata.jp/ontology/NANDO_1200998	NANDO:1200998	TNFSF11	http://identifiers.org/ncbigene/8600	8600	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11926	HGNC:11926	TNF superfamily member 11	This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. Two alternatively spliced transcript variants have been found. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201013	NANDO:2201013	TNFSF11	http://identifiers.org/ncbigene/8600	8600	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11926	HGNC:11926	TNF superfamily member 11	This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. Two alternatively spliced transcript variants have been found. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200717	NANDO:2200717	TNFSF12	http://identifiers.org/ncbigene/8742	8742	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11927	HGNC:11927	TNF superfamily member 12	The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is a ligand for the FN14/TWEAKR receptor. This cytokine has overlapping signaling functions with TNF, but displays a much wider tissue distribution. This cytokine, which exists in both membrane-bound and secreted forms, can induce apoptosis via multiple pathways of cell death in a cell type-specific manner. This cytokine is also found to promote proliferation and migration of endothelial cells, and thus acts as a regulator of angiogenesis. Alternative splicing results in multiple transcript variants. Some transcripts skip the last exon of this gene and continue into the second exon of the neighboring TNFSF13 gene; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010]
http://nanbyodata.jp/ontology/NANDO_1200286	NANDO:1200286	TNNI3	http://identifiers.org/ncbigene/7137	7137	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11947	HGNC:11947	troponin I3, cardiac type	Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. This gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations in this gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM). Troponin I is useful in making a diagnosis of heart failure, and of ischemic heart disease. An elevated level of troponin is also now used as indicator of acute myocardial injury in patients hospitalized with moderate/severe Coronavirus Disease 2019 (COVID-19). Such elevation has also been associated with higher risk of mortality in cardiovascular disease patients hospitalized due to COVID-19. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_2200233	NANDO:2200233	TNNI3	http://identifiers.org/ncbigene/7137	7137	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11947	HGNC:11947	troponin I3, cardiac type	Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. This gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations in this gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM). Troponin I is useful in making a diagnosis of heart failure, and of ischemic heart disease. An elevated level of troponin is also now used as indicator of acute myocardial injury in patients hospitalized with moderate/severe Coronavirus Disease 2019 (COVID-19). Such elevation has also been associated with higher risk of mortality in cardiovascular disease patients hospitalized due to COVID-19. [provided by RefSeq, Aug 2020]
http://nanbyodata.jp/ontology/NANDO_1200477	NANDO:1200477	TNNT1	http://identifiers.org/ncbigene/7138	7138	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11948	HGNC:11948	troponin T1, slow skeletal type	This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200478	NANDO:1200478	TNNT1	http://identifiers.org/ncbigene/7138	7138	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11948	HGNC:11948	troponin T1, slow skeletal type	This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200869	NANDO:2200869	TNNT1	http://identifiers.org/ncbigene/7138	7138	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11948	HGNC:11948	troponin T1, slow skeletal type	This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200286	NANDO:1200286	TNNT2	http://identifiers.org/ncbigene/7139	7139	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11949	HGNC:11949	troponin T2, cardiac type	The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. Transcripts for this gene undergo alternative splicing that results in many tissue-specific isoforms, however, the full-length nature of some of these variants has not yet been determined. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200953	NANDO:1200953	TNRC6A	http://identifiers.org/ncbigene/27327	27327	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11969	HGNC:11969	trinucleotide repeat containing adaptor 6A	This gene encodes a member of the trinucleotide repeat containing 6 protein family. The protein functions in post-transcriptional gene silencing through the RNA interference (RNAi) and microRNA pathways. The protein associates with messenger RNAs and Argonaute proteins in cytoplasmic bodies known as GW-bodies or P-bodies. Inhibiting expression of this gene delocalizes other GW-body proteins and impairs RNAi and microRNA-induced gene silencing. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200956	NANDO:1200956	TNRC6A	http://identifiers.org/ncbigene/27327	27327	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11969	HGNC:11969	trinucleotide repeat containing adaptor 6A	This gene encodes a member of the trinucleotide repeat containing 6 protein family. The protein functions in post-transcriptional gene silencing through the RNA interference (RNAi) and microRNA pathways. The protein associates with messenger RNAs and Argonaute proteins in cytoplasmic bodies known as GW-bodies or P-bodies. Inhibiting expression of this gene delocalizes other GW-body proteins and impairs RNAi and microRNA-induced gene silencing. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200645	NANDO:1200645	TNXB	http://identifiers.org/ncbigene/7148	7148	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11976	HGNC:11976	tenascin XB	This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing, and its deficiency has been associated with the connective tissue disorder Ehlers-Danlos syndrome. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. It is one of four genes in this cluster which have been duplicated. The duplicated copy of this gene is incomplete and is a pseudogene which is transcribed but does not encode a protein. The structure of this gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5' and 3' ends, respectively. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201085	NANDO:1201085	TNXB	http://identifiers.org/ncbigene/7148	7148	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11976	HGNC:11976	tenascin XB	This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing, and its deficiency has been associated with the connective tissue disorder Ehlers-Danlos syndrome. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. It is one of four genes in this cluster which have been duplicated. The duplicated copy of this gene is incomplete and is a pseudogene which is transcribed but does not encode a protein. The structure of this gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5' and 3' ends, respectively. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200607	NANDO:2200607	TNXB	http://identifiers.org/ncbigene/7148	7148	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11976	HGNC:11976	tenascin XB	This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing, and its deficiency has been associated with the connective tissue disorder Ehlers-Danlos syndrome. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. It is one of four genes in this cluster which have been duplicated. The duplicated copy of this gene is incomplete and is a pseudogene which is transcribed but does not encode a protein. The structure of this gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5' and 3' ends, respectively. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	TOR1A	http://identifiers.org/ncbigene/1861	1861	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3098	HGNC:3098	torsin family 1 member A	The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200512	NANDO:1200512	TOR1A	http://identifiers.org/ncbigene/1861	1861	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3098	HGNC:3098	torsin family 1 member A	The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200884	NANDO:2200884	TOR1A	http://identifiers.org/ncbigene/1861	1861	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3098	HGNC:3098	torsin family 1 member A	The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200048	NANDO:2200048	TP53	http://identifiers.org/ncbigene/7157	7157	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11998	HGNC:11998	tumor protein p53	This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_2200073	NANDO:2200073	TP53	http://identifiers.org/ncbigene/7157	7157	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11998	HGNC:11998	tumor protein p53	This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	TP73	http://identifiers.org/ncbigene/7161	7161	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12003	HGNC:12003	tumor protein p73	This gene encodes a member of the p53 family of transcription factors involved in cellular responses to stress and development. It maps to a region on chromosome 1p36 that is frequently deleted in neuroblastoma and other tumors, and thought to contain multiple tumor suppressor genes. The demonstration that this gene is monoallelically expressed (likely from the maternal allele), supports the notion that it is a candidate gene for neuroblastoma. Many transcript variants resulting from alternative splicing and/or use of alternate promoters have been found for this gene, but the biological validity and the full-length nature of some variants have not been determined. [provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_2200229	NANDO:2200229	TPM1	http://identifiers.org/ncbigene/7168	7168	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12010	HGNC:12010	tropomyosin 1	This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200232	NANDO:2200232	TPM1	http://identifiers.org/ncbigene/7168	7168	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12010	HGNC:12010	tropomyosin 1	This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201041	NANDO:2201041	TPM1	http://identifiers.org/ncbigene/7168	7168	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12010	HGNC:12010	tropomyosin 1	This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200477	NANDO:1200477	TPM2	http://identifiers.org/ncbigene/7169	7169	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12011	HGNC:12011	tropomyosin 2	This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_1200478	NANDO:1200478	TPM2	http://identifiers.org/ncbigene/7169	7169	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12011	HGNC:12011	tropomyosin 2	This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2200869	NANDO:2200869	TPM2	http://identifiers.org/ncbigene/7169	7169	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12011	HGNC:12011	tropomyosin 2	This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2200874	NANDO:2200874	TPM2	http://identifiers.org/ncbigene/7169	7169	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12011	HGNC:12011	tropomyosin 2	This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_1200477	NANDO:1200477	TPM3	http://identifiers.org/ncbigene/7170	7170	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12012	HGNC:12012	tropomyosin 3	This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
http://nanbyodata.jp/ontology/NANDO_1200478	NANDO:1200478	TPM3	http://identifiers.org/ncbigene/7170	7170	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12012	HGNC:12012	tropomyosin 3	This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
http://nanbyodata.jp/ontology/NANDO_1200483	NANDO:1200483	TPM3	http://identifiers.org/ncbigene/7170	7170	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12012	HGNC:12012	tropomyosin 3	This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
http://nanbyodata.jp/ontology/NANDO_2200868	NANDO:2200868	TPM3	http://identifiers.org/ncbigene/7170	7170	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12012	HGNC:12012	tropomyosin 3	This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
http://nanbyodata.jp/ontology/NANDO_2200869	NANDO:2200869	TPM3	http://identifiers.org/ncbigene/7170	7170	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12012	HGNC:12012	tropomyosin 3	This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
http://nanbyodata.jp/ontology/NANDO_2200334	NANDO:2200334	TPO	http://identifiers.org/ncbigene/7173	7173	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12015	HGNC:12015	thyroid peroxidase	This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011]
http://nanbyodata.jp/ontology/NANDO_1200055	NANDO:1200055	TPP1	http://identifiers.org/ncbigene/1200	1200	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2073	HGNC:2073	tripeptidyl peptidase 1	This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200150	NANDO:1200150	TPP1	http://identifiers.org/ncbigene/1200	1200	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2073	HGNC:2073	tripeptidyl peptidase 1	This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200573	NANDO:2200573	TPP1	http://identifiers.org/ncbigene/1200	1200	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2073	HGNC:2073	tripeptidyl peptidase 1	This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	TRAF3	http://identifiers.org/ncbigene/7187	7187	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12033	HGNC:12033	TNF receptor associated factor 3	The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from, members of the TNF receptor (TNFR) superfamily. This protein participates in the signal transduction of CD40, a TNFR family member important for the activation of the immune response. This protein is found to be a critical component of the lymphotoxin-beta receptor (LTbetaR) signaling complex, which induces NF-kappaB activation and cell death initiated by LTbeta ligation. Epstein-Barr virus encoded latent infection membrane protein-1 (LMP1) can interact with this and several other members of the TRAF family, which may be essential for the oncogenic effects of LMP1. The protein also plays a role in the regulation of antiviral response. Mutations in this are associated with Encephalopathy, acute, infection-induced, herpes-specific 5. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_2200765	NANDO:2200765	TRAF3	http://identifiers.org/ncbigene/7187	7187	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12033	HGNC:12033	TNF receptor associated factor 3	The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from, members of the TNF receptor (TNFR) superfamily. This protein participates in the signal transduction of CD40, a TNFR family member important for the activation of the immune response. This protein is found to be a critical component of the lymphotoxin-beta receptor (LTbetaR) signaling complex, which induces NF-kappaB activation and cell death initiated by LTbeta ligation. Epstein-Barr virus encoded latent infection membrane protein-1 (LMP1) can interact with this and several other members of the TRAF family, which may be essential for the oncogenic effects of LMP1. The protein also plays a role in the regulation of antiviral response. Mutations in this are associated with Encephalopathy, acute, infection-induced, herpes-specific 5. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_2200772	NANDO:2200772	TRAF3	http://identifiers.org/ncbigene/7187	7187	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12033	HGNC:12033	TNF receptor associated factor 3	The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from, members of the TNF receptor (TNFR) superfamily. This protein participates in the signal transduction of CD40, a TNFR family member important for the activation of the immune response. This protein is found to be a critical component of the lymphotoxin-beta receptor (LTbetaR) signaling complex, which induces NF-kappaB activation and cell death initiated by LTbeta ligation. Epstein-Barr virus encoded latent infection membrane protein-1 (LMP1) can interact with this and several other members of the TRAF family, which may be essential for the oncogenic effects of LMP1. The protein also plays a role in the regulation of antiviral response. Mutations in this are associated with Encephalopathy, acute, infection-induced, herpes-specific 5. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	TRAF3IP1	http://identifiers.org/ncbigene/26146	26146	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17861	HGNC:17861	TRAF3 interacting protein 1	The protein encoded by this gene interacts with TNF receptor-associated factor 3, tethering it to cytoskeletal microtubules. The encoded protein is also an inhibitor of the innate type I IFN response. Defects in this gene are a cause of Senior-Loken syndrome 9. [provided by RefSeq, Mar 2017]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	TRAF3IP2	http://identifiers.org/ncbigene/10758	10758	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1343	HGNC:1343	TRAF3 interacting protein 2	This gene encodes a protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress. This gene product interacts with TRAF proteins (tumor necrosis factor receptor-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Several alternative transcripts encoding different isoforms have been identified. Another transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding transcripts, suggesting it has a regulatory role in the expression of this gene. [provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_1200363	NANDO:1200363	TRAF3IP2	http://identifiers.org/ncbigene/10758	10758	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1343	HGNC:1343	TRAF3 interacting protein 2	This gene encodes a protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress. This gene product interacts with TRAF proteins (tumor necrosis factor receptor-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Several alternative transcripts encoding different isoforms have been identified. Another transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding transcripts, suggesting it has a regulatory role in the expression of this gene. [provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_2200764	NANDO:2200764	TRAF3IP2	http://identifiers.org/ncbigene/10758	10758	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1343	HGNC:1343	TRAF3 interacting protein 2	This gene encodes a protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress. This gene product interacts with TRAF proteins (tumor necrosis factor receptor-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Several alternative transcripts encoding different isoforms have been identified. Another transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding transcripts, suggesting it has a regulatory role in the expression of this gene. [provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_2200023	NANDO:2200023	TRB	http://identifiers.org/ncbigene/6957	6957	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12155	HGNC:12155	T cell receptor beta locus	T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor beta locus. The beta locus includes V (variable), J (joining), diversity (D), and C (constant) segments. During T cell development, the beta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Several V segments and one J segment of the beta locus are known to be incapable of encoding a protein and are considered pseudogenes. The beta locus also includes eight trypsinogen genes, three of which encode functional proteins and five of which are pseudogenes. Chromosomal abnormalities involving the T-cell receptor beta locus have been associated with T-cell lymphomas. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200028	NANDO:2200028	TRB	http://identifiers.org/ncbigene/6957	6957	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12155	HGNC:12155	T cell receptor beta locus	T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor beta locus. The beta locus includes V (variable), J (joining), diversity (D), and C (constant) segments. During T cell development, the beta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Several V segments and one J segment of the beta locus are known to be incapable of encoding a protein and are considered pseudogenes. The beta locus also includes eight trypsinogen genes, three of which encode functional proteins and five of which are pseudogenes. Chromosomal abnormalities involving the T-cell receptor beta locus have been associated with T-cell lymphomas. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200030	NANDO:2200030	TRB	http://identifiers.org/ncbigene/6957	6957	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12155	HGNC:12155	T cell receptor beta locus	T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor beta locus. The beta locus includes V (variable), J (joining), diversity (D), and C (constant) segments. During T cell development, the beta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Several V segments and one J segment of the beta locus are known to be incapable of encoding a protein and are considered pseudogenes. The beta locus also includes eight trypsinogen genes, three of which encode functional proteins and five of which are pseudogenes. Chromosomal abnormalities involving the T-cell receptor beta locus have been associated with T-cell lymphomas. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200658	NANDO:1200658	TREM2	http://identifiers.org/ncbigene/54209	54209	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17761	HGNC:17761	triggering receptor expressed on myeloid cells 2	This gene encodes a membrane protein that forms a receptor signaling complex with the TYRO protein tyrosine kinase binding protein. The encoded protein functions in immune response and may be involved in chronic inflammation by triggering the production of constitutive inflammatory cytokines. Defects in this gene are a cause of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]
http://nanbyodata.jp/ontology/NANDO_1200993	NANDO:1200993	TREX1	http://identifiers.org/ncbigene/11277	11277	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12269	HGNC:12269	three prime repair exonuclease 1	This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
http://nanbyodata.jp/ontology/NANDO_1200996	NANDO:1200996	TREX1	http://identifiers.org/ncbigene/11277	11277	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12269	HGNC:12269	three prime repair exonuclease 1	This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	TREX1	http://identifiers.org/ncbigene/11277	11277	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12269	HGNC:12269	three prime repair exonuclease 1	This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
http://nanbyodata.jp/ontology/NANDO_2200893	NANDO:2200893	TREX1	http://identifiers.org/ncbigene/11277	11277	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12269	HGNC:12269	three prime repair exonuclease 1	This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
http://nanbyodata.jp/ontology/NANDO_2200023	NANDO:2200023	TRG	http://identifiers.org/ncbigene/6965	6965	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12271	HGNC:12271	T cell receptor gamma locus	T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor gamma locus. The gamma locus includes V (variable), J (joining), and C (constant) segments. During T cell development, the gamma chain is synthesized by a recombination event at the DNA level joining a V segment with a J segment; the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random addition of nucleotides by terminal deoxynucleotidyltransferase. Several V segments of the gamma locus are known to be incapable of encoding a protein and are considered pseudogenes. Somatic rearrangement of the gamma locus has been observed in T cells derived from patients with T cell leukemia and ataxia telangiectasia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200028	NANDO:2200028	TRG	http://identifiers.org/ncbigene/6965	6965	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12271	HGNC:12271	T cell receptor gamma locus	T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor gamma locus. The gamma locus includes V (variable), J (joining), and C (constant) segments. During T cell development, the gamma chain is synthesized by a recombination event at the DNA level joining a V segment with a J segment; the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random addition of nucleotides by terminal deoxynucleotidyltransferase. Several V segments of the gamma locus are known to be incapable of encoding a protein and are considered pseudogenes. Somatic rearrangement of the gamma locus has been observed in T cells derived from patients with T cell leukemia and ataxia telangiectasia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200030	NANDO:2200030	TRG	http://identifiers.org/ncbigene/6965	6965	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12271	HGNC:12271	T cell receptor gamma locus	T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor gamma locus. The gamma locus includes V (variable), J (joining), and C (constant) segments. During T cell development, the gamma chain is synthesized by a recombination event at the DNA level joining a V segment with a J segment; the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random addition of nucleotides by terminal deoxynucleotidyltransferase. Several V segments of the gamma locus are known to be incapable of encoding a protein and are considered pseudogenes. Somatic rearrangement of the gamma locus has been observed in T cells derived from patients with T cell leukemia and ataxia telangiectasia. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200414	NANDO:2200414	TRIM32	http://identifiers.org/ncbigene/22954	22954	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16380	HGNC:16380	tripartite motif containing 32	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein has also been localized to the nucleus, where it interacts with the activation domain of the HIV-1 Tat protein. The Tat protein activates transcription of HIV-1 genes. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200616	NANDO:2200616	TRNT1	http://identifiers.org/ncbigene/51095	51095	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17341	HGNC:17341	tRNA nucleotidyl transferase 1	The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3' terminus of tRNA molecules. Mutations in this gene result in sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
http://nanbyodata.jp/ontology/NANDO_2201014	NANDO:2201014	TRPS1	http://identifiers.org/ncbigene/7227	7227	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12340	HGNC:12340	transcriptional repressor GATA binding 1	This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	TRPV4	http://identifiers.org/ncbigene/59341	59341	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18083	HGNC:18083	transient receptor potential cation channel subfamily V member 4	This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
http://nanbyodata.jp/ontology/NANDO_1201098	NANDO:1201098	TRPV4	http://identifiers.org/ncbigene/59341	59341	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18083	HGNC:18083	transient receptor potential cation channel subfamily V member 4	This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
http://nanbyodata.jp/ontology/NANDO_2200855	NANDO:2200855	TRPV4	http://identifiers.org/ncbigene/59341	59341	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18083	HGNC:18083	transient receptor potential cation channel subfamily V member 4	This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
http://nanbyodata.jp/ontology/NANDO_2201021	NANDO:2201021	TRPV4	http://identifiers.org/ncbigene/59341	59341	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18083	HGNC:18083	transient receptor potential cation channel subfamily V member 4	This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
http://nanbyodata.jp/ontology/NANDO_1200430	NANDO:1200430	TSC1	http://identifiers.org/ncbigene/7248	7248	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12362	HGNC:12362	TSC complex subunit 1	This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signalling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including Tsc2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis. [provided by RefSeq, Apr 2018]
http://nanbyodata.jp/ontology/NANDO_1200607	NANDO:1200607	TSC1	http://identifiers.org/ncbigene/7248	7248	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12362	HGNC:12362	TSC complex subunit 1	This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signalling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including Tsc2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis. [provided by RefSeq, Apr 2018]
http://nanbyodata.jp/ontology/NANDO_2200236	NANDO:2200236	TSC1	http://identifiers.org/ncbigene/7248	7248	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12362	HGNC:12362	TSC complex subunit 1	This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signalling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including Tsc2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis. [provided by RefSeq, Apr 2018]
http://nanbyodata.jp/ontology/NANDO_2200826	NANDO:2200826	TSC1	http://identifiers.org/ncbigene/7248	7248	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12362	HGNC:12362	TSC complex subunit 1	This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signalling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including Tsc2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis. [provided by RefSeq, Apr 2018]
http://nanbyodata.jp/ontology/NANDO_2201498	NANDO:2201498	TSC1	http://identifiers.org/ncbigene/7248	7248	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12362	HGNC:12362	TSC complex subunit 1	This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signalling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including Tsc2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis. [provided by RefSeq, Apr 2018]
http://nanbyodata.jp/ontology/NANDO_1200430	NANDO:1200430	TSC2	http://identifiers.org/ncbigene/7249	7249	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12363	HGNC:12363	TSC complex subunit 2	Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200607	NANDO:1200607	TSC2	http://identifiers.org/ncbigene/7249	7249	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12363	HGNC:12363	TSC complex subunit 2	Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200236	NANDO:2200236	TSC2	http://identifiers.org/ncbigene/7249	7249	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12363	HGNC:12363	TSC complex subunit 2	Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200826	NANDO:2200826	TSC2	http://identifiers.org/ncbigene/7249	7249	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12363	HGNC:12363	TSC complex subunit 2	Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201498	NANDO:2201498	TSC2	http://identifiers.org/ncbigene/7249	7249	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12363	HGNC:12363	TSC complex subunit 2	Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200329	NANDO:2200329	TSHR	http://identifiers.org/ncbigene/7253	7253	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12373	HGNC:12373	thyroid stimulating hormone receptor	The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_2200334	NANDO:2200334	TSHR	http://identifiers.org/ncbigene/7253	7253	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12373	HGNC:12373	thyroid stimulating hormone receptor	The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_2200383	NANDO:2200383	TSPYL1	http://identifiers.org/ncbigene/7259	7259	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12382	HGNC:12382	TSPY like 1	The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). [provided by RefSeq, Dec 2009]
http://nanbyodata.jp/ontology/NANDO_1200890	NANDO:1200890	TSR2	http://identifiers.org/ncbigene/90121	90121	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25455	HGNC:25455	TSR2 ribosome maturation factor	The protein encoded by this gene appears to repress the transcription of NF-kappaB and may be involved in apoptosis. Defects in this gene are a cause of Diamond-Blackfan anemia. [provided by RefSeq, Oct 2016]
http://nanbyodata.jp/ontology/NANDO_2200614	NANDO:2200614	TSR2	http://identifiers.org/ncbigene/90121	90121	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25455	HGNC:25455	TSR2 ribosome maturation factor	The protein encoded by this gene appears to repress the transcription of NF-kappaB and may be involved in apoptosis. Defects in this gene are a cause of Diamond-Blackfan anemia. [provided by RefSeq, Oct 2016]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	TTC21B	http://identifiers.org/ncbigene/79809	79809	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25660	HGNC:25660	tetratricopeptide repeat domain 21B	This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	TTC21B	http://identifiers.org/ncbigene/79809	79809	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25660	HGNC:25660	tetratricopeptide repeat domain 21B	This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011]
http://nanbyodata.jp/ontology/NANDO_2200140	NANDO:2200140	TTC21B	http://identifiers.org/ncbigene/79809	79809	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25660	HGNC:25660	tetratricopeptide repeat domain 21B	This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011]
http://nanbyodata.jp/ontology/NANDO_2200414	NANDO:2200414	TTC8	http://identifiers.org/ncbigene/123016	123016	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20087	HGNC:20087	tetratricopeptide repeat domain 8	This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
http://nanbyodata.jp/ontology/NANDO_1200216	NANDO:1200216	TTN	http://identifiers.org/ncbigene/7273	7273	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12403	HGNC:12403	titin	This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012]
http://nanbyodata.jp/ontology/NANDO_1200285	NANDO:1200285	TTN	http://identifiers.org/ncbigene/7273	7273	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12403	HGNC:12403	titin	This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012]
http://nanbyodata.jp/ontology/NANDO_1200486	NANDO:1200486	TTN	http://identifiers.org/ncbigene/7273	7273	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12403	HGNC:12403	titin	This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012]
http://nanbyodata.jp/ontology/NANDO_1200209	NANDO:1200209	TTR	http://identifiers.org/ncbigene/7276	7276	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12405	HGNC:12405	transthyretin	This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200210	NANDO:1200210	TTR	http://identifiers.org/ncbigene/7276	7276	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12405	HGNC:12405	transthyretin	This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200212	NANDO:1200212	TTR	http://identifiers.org/ncbigene/7276	7276	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12405	HGNC:12405	transthyretin	This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200214	NANDO:1200214	TTR	http://identifiers.org/ncbigene/7276	7276	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12405	HGNC:12405	transthyretin	This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200574	NANDO:1200574	TUBA1A	http://identifiers.org/ncbigene/7846	7846	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20766	HGNC:20766	tubulin alpha 1a	Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blot studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, intellectual disability, and early-onset epilepsy caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]
http://nanbyodata.jp/ontology/NANDO_2200817	NANDO:2200817	TUBA1A	http://identifiers.org/ncbigene/7846	7846	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20766	HGNC:20766	tubulin alpha 1a	Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blot studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, intellectual disability, and early-onset epilepsy caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]
http://nanbyodata.jp/ontology/NANDO_2200659	NANDO:2200659	TUBB1	http://identifiers.org/ncbigene/81027	81027	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16257	HGNC:16257	tubulin beta 1 class VI	This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_2200667	NANDO:2200667	TUBB1	http://identifiers.org/ncbigene/81027	81027	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16257	HGNC:16257	tubulin beta 1 class VI	This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	TUBB4A	http://identifiers.org/ncbigene/10382	10382	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20774	HGNC:20774	tubulin beta 4A class IVa	This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]
http://nanbyodata.jp/ontology/NANDO_1200515	NANDO:1200515	TUBB4A	http://identifiers.org/ncbigene/10382	10382	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20774	HGNC:20774	tubulin beta 4A class IVa	This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]
http://nanbyodata.jp/ontology/NANDO_1200575	NANDO:1200575	TUBB4A	http://identifiers.org/ncbigene/10382	10382	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20774	HGNC:20774	tubulin beta 4A class IVa	This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]
http://nanbyodata.jp/ontology/NANDO_1200578	NANDO:1200578	TUBB4A	http://identifiers.org/ncbigene/10382	10382	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20774	HGNC:20774	tubulin beta 4A class IVa	This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]
http://nanbyodata.jp/ontology/NANDO_2200836	NANDO:2200836	TUBB4A	http://identifiers.org/ncbigene/10382	10382	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20774	HGNC:20774	tubulin beta 4A class IVa	This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]
http://nanbyodata.jp/ontology/NANDO_2200846	NANDO:2200846	TWIST1	http://identifiers.org/ncbigene/7291	7291	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12428	HGNC:12428	twist family bHLH transcription factor 1	This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis, as well as metastatic recurrence. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_2200848	NANDO:2200848	TWIST1	http://identifiers.org/ncbigene/7291	7291	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12428	HGNC:12428	twist family bHLH transcription factor 1	This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis, as well as metastatic recurrence. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Jul 2020]
http://nanbyodata.jp/ontology/NANDO_2200523	NANDO:2200523	TWNK	http://identifiers.org/ncbigene/56652	56652	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1160	HGNC:1160	twinkle mtDNA helicase	This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009]
http://nanbyodata.jp/ontology/NANDO_1200777	NANDO:1200777	TXNRD2	http://identifiers.org/ncbigene/10587	10587	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18155	HGNC:18155	thioredoxin reductase 2	The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes a mitochondrial form important for scavenging reactive oxygen species in mitochondria. It functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants encoding different isoforms, including a few localized in the cytosol and some lacking the C-terminal Sec residue, have been found for this gene. [provided by RefSeq, Jun 2017]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	TYK2	http://identifiers.org/ncbigene/7297	7297	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12440	HGNC:12440	tyrosine kinase 2	This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also a component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with Immunodeficiency 35. [provided by RefSeq, Sep 2020]
http://nanbyodata.jp/ontology/NANDO_1200340	NANDO:1200340	TYK2	http://identifiers.org/ncbigene/7297	7297	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12440	HGNC:12440	tyrosine kinase 2	This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also a component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with Immunodeficiency 35. [provided by RefSeq, Sep 2020]
http://nanbyodata.jp/ontology/NANDO_1200359	NANDO:1200359	TYK2	http://identifiers.org/ncbigene/7297	7297	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12440	HGNC:12440	tyrosine kinase 2	This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also a component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with Immunodeficiency 35. [provided by RefSeq, Sep 2020]
http://nanbyodata.jp/ontology/NANDO_2200713	NANDO:2200713	TYK2	http://identifiers.org/ncbigene/7297	7297	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12440	HGNC:12440	tyrosine kinase 2	This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also a component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with Immunodeficiency 35. [provided by RefSeq, Sep 2020]
http://nanbyodata.jp/ontology/NANDO_2200759	NANDO:2200759	TYK2	http://identifiers.org/ncbigene/7297	7297	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12440	HGNC:12440	tyrosine kinase 2	This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also a component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with Immunodeficiency 35. [provided by RefSeq, Sep 2020]
http://nanbyodata.jp/ontology/NANDO_2200523	NANDO:2200523	TYMP	http://identifiers.org/ncbigene/1890	1890	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3148	HGNC:3148	thymidine phosphorylase	This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2012]
http://nanbyodata.jp/ontology/NANDO_1200637	NANDO:1200637	TYR	http://identifiers.org/ncbigene/7299	7299	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12442	HGNC:12442	tyrosinase	The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200641	NANDO:1200641	TYR	http://identifiers.org/ncbigene/7299	7299	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12442	HGNC:12442	tyrosinase	The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_2200986	NANDO:2200986	TYR	http://identifiers.org/ncbigene/7299	7299	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12442	HGNC:12442	tyrosinase	The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008]
http://nanbyodata.jp/ontology/NANDO_1200658	NANDO:1200658	TYROBP	http://identifiers.org/ncbigene/7305	7305	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12449	HGNC:12449	transmembrane immune signaling adaptor TYROBP	This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010]
http://nanbyodata.jp/ontology/NANDO_1200637	NANDO:1200637	TYRP1	http://identifiers.org/ncbigene/7306	7306	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12450	HGNC:12450	tyrosinase related protein 1	This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III. [provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_1200641	NANDO:1200641	TYRP1	http://identifiers.org/ncbigene/7306	7306	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12450	HGNC:12450	tyrosinase related protein 1	This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III. [provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2200986	NANDO:2200986	TYRP1	http://identifiers.org/ncbigene/7306	7306	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12450	HGNC:12450	tyrosinase related protein 1	This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III. [provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_1200891	NANDO:1200891	UBE2T	http://identifiers.org/ncbigene/29089	29089	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25009	HGNC:25009	ubiquitin conjugating enzyme E2 T	The protein encoded by this gene catalyzes the covalent attachment of ubiquitin to protein substrates. Defects in this gene have been associated with Fanconi anemia of complementation group T. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
http://nanbyodata.jp/ontology/NANDO_1200686	NANDO:1200686	UBE3A	http://identifiers.org/ncbigene/7337	7337	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12496	HGNC:12496	ubiquitin protein ligase E3A	This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200960	NANDO:2200960	UBE3A	http://identifiers.org/ncbigene/7337	7337	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12496	HGNC:12496	ubiquitin protein ligase E3A	This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200399	NANDO:2200399	UCP2	http://identifiers.org/ncbigene/7351	7351	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12518	HGNC:12518	uncoupling protein 2	Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed in many tissues, with the greatest expression in skeletal muscle. It is thought to play a role in nonshivering thermogenesis, obesity and diabetes. Chromosomal order is 5'-UCP3-UCP2-3'. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201413	NANDO:2201413	UGT1A1	http://identifiers.org/ncbigene/54658	54658	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12530	HGNC:12530	UDP glucuronosyltransferase family 1 member A1	This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200139	NANDO:2200139	UMOD	http://identifiers.org/ncbigene/7369	7369	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12559	HGNC:12559	uromodulin	The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_2201386	NANDO:2201386	UMOD	http://identifiers.org/ncbigene/7369	7369	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12559	HGNC:12559	uromodulin	The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_2201387	NANDO:2201387	UMOD	http://identifiers.org/ncbigene/7369	7369	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12559	HGNC:12559	uromodulin	The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	UNC13D	http://identifiers.org/ncbigene/201294	201294	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23147	HGNC:23147	unc-13 homolog D	This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200032	NANDO:2200032	UNC13D	http://identifiers.org/ncbigene/201294	201294	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23147	HGNC:23147	unc-13 homolog D	This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200727	NANDO:2200727	UNC13D	http://identifiers.org/ncbigene/201294	201294	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23147	HGNC:23147	unc-13 homolog D	This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200729	NANDO:2200729	UNC13D	http://identifiers.org/ncbigene/201294	201294	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23147	HGNC:23147	unc-13 homolog D	This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	UNC93B1	http://identifiers.org/ncbigene/81622	81622	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13481	HGNC:13481	unc-93 homolog B1, TLR signaling regulator	This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficiency of the encoded protein has been associated with herpes simplex encephalitis. [provided by RefSeq, Feb 2014]
http://nanbyodata.jp/ontology/NANDO_2200765	NANDO:2200765	UNC93B1	http://identifiers.org/ncbigene/81622	81622	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13481	HGNC:13481	unc-93 homolog B1, TLR signaling regulator	This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficiency of the encoded protein has been associated with herpes simplex encephalitis. [provided by RefSeq, Feb 2014]
http://nanbyodata.jp/ontology/NANDO_2200772	NANDO:2200772	UNC93B1	http://identifiers.org/ncbigene/81622	81622	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13481	HGNC:13481	unc-93 homolog B1, TLR signaling regulator	This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficiency of the encoded protein has been associated with herpes simplex encephalitis. [provided by RefSeq, Feb 2014]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	UNG	http://identifiers.org/ncbigene/7374	7374	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12572	HGNC:12572	uracil DNA glycosylase	This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases. [provided by RefSeq, Nov 2010]
http://nanbyodata.jp/ontology/NANDO_1200345	NANDO:1200345	UNG	http://identifiers.org/ncbigene/7374	7374	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12572	HGNC:12572	uracil DNA glycosylase	This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases. [provided by RefSeq, Nov 2010]
http://nanbyodata.jp/ontology/NANDO_2200718	NANDO:2200718	UNG	http://identifiers.org/ncbigene/7374	7374	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12572	HGNC:12572	uracil DNA glycosylase	This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases. [provided by RefSeq, Nov 2010]
http://nanbyodata.jp/ontology/NANDO_1200811	NANDO:1200811	UROD	http://identifiers.org/ncbigene/7389	7389	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12591	HGNC:12591	uroporphyrinogen decarboxylase	This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_1200816	NANDO:1200816	UROD	http://identifiers.org/ncbigene/7389	7389	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12591	HGNC:12591	uroporphyrinogen decarboxylase	This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_1200819	NANDO:1200819	UROD	http://identifiers.org/ncbigene/7389	7389	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12591	HGNC:12591	uroporphyrinogen decarboxylase	This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_2200610	NANDO:2200610	UROD	http://identifiers.org/ncbigene/7389	7389	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12591	HGNC:12591	uroporphyrinogen decarboxylase	This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_2201267	NANDO:2201267	UROD	http://identifiers.org/ncbigene/7389	7389	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12591	HGNC:12591	uroporphyrinogen decarboxylase	This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010]
http://nanbyodata.jp/ontology/NANDO_1200811	NANDO:1200811	UROS	http://identifiers.org/ncbigene/7390	7390	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12592	HGNC:12592	uroporphyrinogen III synthase	The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200817	NANDO:1200817	UROS	http://identifiers.org/ncbigene/7390	7390	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12592	HGNC:12592	uroporphyrinogen III synthase	The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200610	NANDO:2200610	UROS	http://identifiers.org/ncbigene/7390	7390	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12592	HGNC:12592	uroporphyrinogen III synthase	The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200747	NANDO:2200747	USB1	http://identifiers.org/ncbigene/79650	79650	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25792	HGNC:25792	U6 snRNA biogenesis phosphodiesterase 1	This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_2200749	NANDO:2200749	USB1	http://identifiers.org/ncbigene/79650	79650	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25792	HGNC:25792	U6 snRNA biogenesis phosphodiesterase 1	This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_1200941	NANDO:1200941	USH1C	http://identifiers.org/ncbigene/10083	10083	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12597	HGNC:12597	USH1 protein network component harmonin	This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_1200942	NANDO:1200942	USH1C	http://identifiers.org/ncbigene/10083	10083	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12597	HGNC:12597	USH1 protein network component harmonin	This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_1200941	NANDO:1200941	USH1G	http://identifiers.org/ncbigene/124590	124590	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16356	HGNC:16356	USH1 protein network component sans	This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
http://nanbyodata.jp/ontology/NANDO_1200942	NANDO:1200942	USH1G	http://identifiers.org/ncbigene/124590	124590	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16356	HGNC:16356	USH1 protein network component sans	This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
http://nanbyodata.jp/ontology/NANDO_1200431	NANDO:1200431	USH2A	http://identifiers.org/ncbigene/7399	7399	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12601	HGNC:12601	usherin	This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_1200941	NANDO:1200941	USH2A	http://identifiers.org/ncbigene/7399	7399	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12601	HGNC:12601	usherin	This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_1200943	NANDO:1200943	USH2A	http://identifiers.org/ncbigene/7399	7399	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12601	HGNC:12601	usherin	This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
http://nanbyodata.jp/ontology/NANDO_1200216	NANDO:1200216	VCP	http://identifiers.org/ncbigene/7415	7415	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12666	HGNC:12666	valosin containing protein	This gene encodes a member of the AAA ATPase family of proteins. The encoded protein plays a role in protein degradation, intracellular membrane fusion, DNA repair and replication, regulation of the cell cycle, and activation of the NF-kappa B pathway. This protein forms a homohexameric complex that interacts with a variety of cofactors and extracts ubiquitinated proteins from lipid membranes or protein complexes. Mutations in this gene cause IBMPFD (inclusion body myopathy with paget disease of bone and frontotemporal dementia), ALS (amyotrophic lateral sclerosis) and Charcot-Marie-Tooth disease in human patients. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200781	NANDO:1200781	VDR	http://identifiers.org/ncbigene/7421	7421	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12679	HGNC:12679	vitamin D receptor	This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of vitamin D3 receptor are principally involved in mineral metabolism, though this receptor regulates a variety of other metabolic pathways, such as those involved in immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]
http://nanbyodata.jp/ontology/NANDO_1200783	NANDO:1200783	VDR	http://identifiers.org/ncbigene/7421	7421	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12679	HGNC:12679	vitamin D receptor	This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of vitamin D3 receptor are principally involved in mineral metabolism, though this receptor regulates a variety of other metabolic pathways, such as those involved in immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]
http://nanbyodata.jp/ontology/NANDO_2200401	NANDO:2200401	VDR	http://identifiers.org/ncbigene/7421	7421	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12679	HGNC:12679	vitamin D receptor	This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of vitamin D3 receptor are principally involved in mineral metabolism, though this receptor regulates a variety of other metabolic pathways, such as those involved in immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]
http://nanbyodata.jp/ontology/NANDO_2200045	NANDO:2200045	VHL	http://identifiers.org/ncbigene/7428	7428	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12687	HGNC:12687	von Hippel-Lindau tumor suppressor	Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200407	NANDO:2200407	VHL	http://identifiers.org/ncbigene/7428	7428	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12687	HGNC:12687	von Hippel-Lindau tumor suppressor	Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200829	NANDO:2200829	VHL	http://identifiers.org/ncbigene/7428	7428	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12687	HGNC:12687	von Hippel-Lindau tumor suppressor	Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201017	NANDO:2201017	VKORC1	http://identifiers.org/ncbigene/79001	79001	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23663	HGNC:23663	vitamin K epoxide reductase complex subunit 1	This gene encodes the catalytic subunit of the vitamin K epoxide reductase complex, which is responsible for the reduction of inactive vitamin K 2,3-epoxide to active vitamin K in the endoplasmic reticulum membrane. Vitamin K is a required co-factor for carboxylation of glutamic acid residues by vitamin K-dependent gamma-carboxylase in blood-clotting enzymes. Allelic variation in this gene is associated with vitamin k-dependent clotting factors combined deficiency of 2, and increased resistance or sensitivity to warfarin, an inhibitor of vitamin K epoxide reductase. Pseudogenes of this gene are located on chromosomes 1 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
http://nanbyodata.jp/ontology/NANDO_1200221	NANDO:1200221	VMA21	http://identifiers.org/ncbigene/203547	203547	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22082	HGNC:22082	vacuolar ATPase assembly factor VMA21	This gene encodes a chaperone for assembly of lysosomal vacuolar ATPase.[provided by RefSeq, Jul 2012]
http://nanbyodata.jp/ontology/NANDO_1200223	NANDO:1200223	VMA21	http://identifiers.org/ncbigene/203547	203547	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22082	HGNC:22082	vacuolar ATPase assembly factor VMA21	This gene encodes a chaperone for assembly of lysosomal vacuolar ATPase.[provided by RefSeq, Jul 2012]
http://nanbyodata.jp/ontology/NANDO_1200013	NANDO:1200013	VPS13A	http://identifiers.org/ncbigene/23230	23230	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1908	HGNC:1908	vacuolar protein sorting 13 homolog A	The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200014	NANDO:1200014	VPS13A	http://identifiers.org/ncbigene/23230	23230	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1908	HGNC:1908	vacuolar protein sorting 13 homolog A	The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200747	NANDO:2200747	VPS13B	http://identifiers.org/ncbigene/157680	157680	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2183	HGNC:2183	vacuolar protein sorting 13 homolog B	This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200750	NANDO:2200750	VPS13B	http://identifiers.org/ncbigene/157680	157680	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2183	HGNC:2183	vacuolar protein sorting 13 homolog B	This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201415	NANDO:2201415	VPS13B	http://identifiers.org/ncbigene/157680	157680	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2183	HGNC:2183	vacuolar protein sorting 13 homolog B	This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201418	NANDO:2201418	VPS13B	http://identifiers.org/ncbigene/157680	157680	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2183	HGNC:2183	vacuolar protein sorting 13 homolog B	This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200511	NANDO:1200511	VPS16	http://identifiers.org/ncbigene/64601	64601	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14584	HGNC:14584	VPS16 core subunit of CORVET and HOPS complexes	Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
http://nanbyodata.jp/ontology/NANDO_2200745	NANDO:2200745	VPS45	http://identifiers.org/ncbigene/11311	11311	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14579	HGNC:14579	vacuolar protein sorting 45 homolog	Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	WAS	http://identifiers.org/ncbigene/7454	7454	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12731	HGNC:12731	WASP actin nucleation promoting factor	 The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton.  The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins.  Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3.  Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene.  The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients.  A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200330	NANDO:1200330	WAS	http://identifiers.org/ncbigene/7454	7454	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12731	HGNC:12731	WASP actin nucleation promoting factor	 The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton.  The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins.  Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3.  Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene.  The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients.  A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200353	NANDO:1200353	WAS	http://identifiers.org/ncbigene/7454	7454	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12731	HGNC:12731	WASP actin nucleation promoting factor	 The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton.  The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins.  Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3.  Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene.  The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients.  A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200704	NANDO:2200704	WAS	http://identifiers.org/ncbigene/7454	7454	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12731	HGNC:12731	WASP actin nucleation promoting factor	 The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton.  The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins.  Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3.  Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene.  The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients.  A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200745	NANDO:2200745	WAS	http://identifiers.org/ncbigene/7454	7454	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12731	HGNC:12731	WASP actin nucleation promoting factor	 The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton.  The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins.  Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3.  Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene.  The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients.  A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200747	NANDO:2200747	WAS	http://identifiers.org/ncbigene/7454	7454	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12731	HGNC:12731	WASP actin nucleation promoting factor	 The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton.  The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins.  Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3.  Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene.  The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients.  A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200753	NANDO:2200753	WAS	http://identifiers.org/ncbigene/7454	7454	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12731	HGNC:12731	WASP actin nucleation promoting factor	 The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton.  The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins.  Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3.  Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene.  The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients.  A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200414	NANDO:2200414	WDPCP	http://identifiers.org/ncbigene/51057	51057	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28027	HGNC:28027	WD repeat containing planar cell polarity effector	This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	WDR19	http://identifiers.org/ncbigene/57728	57728	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18340	HGNC:18340	WD repeat domain 19	The protein encoded by this gene is a member of the WD (tryptophan-aspartic acid) repeat family, which is a large family of structurally-related proteins known to participate in a wide range of cellular processes. Each WD repeat typically contains about 40 amino acids that are usually bracketed by glycine-histidine and tryptophan-aspartic acid (WD) dipeptides. This protein contains six WD repeats, three transmembrane domains, and a clathrin heavy-chain repeat. Mutations in this gene have been described in individuals with a wide range of disorders affecting function of the cilium. These disorders are known as ciliopathies, and include Jeune syndrome, Sensenbrenner syndromes, Senior-Loken syndrome, combined or isolated nephronophthisis (NPHP), and retinitis pigmentosa (RP). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_2200140	NANDO:2200140	WDR19	http://identifiers.org/ncbigene/57728	57728	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18340	HGNC:18340	WD repeat domain 19	The protein encoded by this gene is a member of the WD (tryptophan-aspartic acid) repeat family, which is a large family of structurally-related proteins known to participate in a wide range of cellular processes. Each WD repeat typically contains about 40 amino acids that are usually bracketed by glycine-histidine and tryptophan-aspartic acid (WD) dipeptides. This protein contains six WD repeats, three transmembrane domains, and a clathrin heavy-chain repeat. Mutations in this gene have been described in individuals with a wide range of disorders affecting function of the cilium. These disorders are known as ciliopathies, and include Jeune syndrome, Sensenbrenner syndromes, Senior-Loken syndrome, combined or isolated nephronophthisis (NPHP), and retinitis pigmentosa (RP). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
http://nanbyodata.jp/ontology/NANDO_2200120	NANDO:2200120	WDR4	http://identifiers.org/ncbigene/10785	10785	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12756	HGNC:12756	WD repeat domain 4	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]
http://nanbyodata.jp/ontology/NANDO_2201385	NANDO:2201385	WDR4	http://identifiers.org/ncbigene/10785	10785	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12756	HGNC:12756	WD repeat domain 4	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]
http://nanbyodata.jp/ontology/NANDO_1200542	NANDO:1200542	WDR45	http://identifiers.org/ncbigene/11152	11152	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28912	HGNC:28912	WD repeat domain 45	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201414	NANDO:2201414	WDR45	http://identifiers.org/ncbigene/11152	11152	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28912	HGNC:28912	WD repeat domain 45	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200120	NANDO:2200120	WDR73	http://identifiers.org/ncbigene/84942	84942	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25928	HGNC:25928	WD repeat domain 73	The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
http://nanbyodata.jp/ontology/NANDO_2201385	NANDO:2201385	WDR73	http://identifiers.org/ncbigene/84942	84942	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25928	HGNC:25928	WD repeat domain 73	The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
http://nanbyodata.jp/ontology/NANDO_1200757	NANDO:1200757	WFS1	http://identifiers.org/ncbigene/7466	7466	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12762	HGNC:12762	wolframin ER transmembrane glycoprotein	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_1200945	NANDO:1200945	WFS1	http://identifiers.org/ncbigene/7466	7466	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12762	HGNC:12762	wolframin ER transmembrane glycoprotein	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2200463	NANDO:2200463	WFS1	http://identifiers.org/ncbigene/7466	7466	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12762	HGNC:12762	wolframin ER transmembrane glycoprotein	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_2201435	NANDO:2201435	WFS1	http://identifiers.org/ncbigene/7466	7466	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12762	HGNC:12762	wolframin ER transmembrane glycoprotein	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
http://nanbyodata.jp/ontology/NANDO_1200941	NANDO:1200941	WHRN	http://identifiers.org/ncbigene/25861	25861	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16361	HGNC:16361	whirlin	This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
http://nanbyodata.jp/ontology/NANDO_1200943	NANDO:1200943	WHRN	http://identifiers.org/ncbigene/25861	25861	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16361	HGNC:16361	whirlin	This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	WIPF1	http://identifiers.org/ncbigene/7456	7456	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12736	HGNC:12736	WAS/WASL interacting protein family member 1	This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200330	NANDO:1200330	WIPF1	http://identifiers.org/ncbigene/7456	7456	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12736	HGNC:12736	WAS/WASL interacting protein family member 1	This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200704	NANDO:2200704	WIPF1	http://identifiers.org/ncbigene/7456	7456	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12736	HGNC:12736	WAS/WASL interacting protein family member 1	This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200367	NANDO:2200367	WNK1	http://identifiers.org/ncbigene/65125	65125	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14540	HGNC:14540	WNK lysine deficient protein kinase 1	This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2200369	NANDO:2200369	WNK1	http://identifiers.org/ncbigene/65125	65125	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14540	HGNC:14540	WNK lysine deficient protein kinase 1	This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010]
http://nanbyodata.jp/ontology/NANDO_2200367	NANDO:2200367	WNK4	http://identifiers.org/ncbigene/65266	65266	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14544	HGNC:14544	WNK lysine deficient protein kinase 4	This gene encodes a member of the WNK family of serine-threonine protein kinases. The kinase is part of the tight junction complex in kidney cells, and regulates the balance between NaCl reabsorption and K(+) secretion. The kinase regulates the activities of several types of ion channels, cotransporters, and exchangers involved in electrolyte flux in epithelial cells. Mutations in this gene result in pseudohypoaldosteronism type IIB.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2200369	NANDO:2200369	WNK4	http://identifiers.org/ncbigene/65266	65266	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14544	HGNC:14544	WNK lysine deficient protein kinase 4	This gene encodes a member of the WNK family of serine-threonine protein kinases. The kinase is part of the tight junction complex in kidney cells, and regulates the balance between NaCl reabsorption and K(+) secretion. The kinase regulates the activities of several types of ion channels, cotransporters, and exchangers involved in electrolyte flux in epithelial cells. Mutations in this gene result in pseudohypoaldosteronism type IIB.[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_1200873	NANDO:1200873	WNT1	http://identifiers.org/ncbigene/7471	7471	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12774	HGNC:12774	Wnt family member 1	The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is very conserved in evolution, and the protein encoded by this gene is known to be 98% identical to the mouse Wnt1 protein at the amino acid level. The studies in mouse indicate that the Wnt1 protein functions in the induction of the mesencephalon and cerebellum. This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature. However,  further studies suggested that the gene mutations might not have a significant role in Joubert syndrome. This gene is clustered with another family member, WNT10B, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201011	NANDO:2201011	WNT1	http://identifiers.org/ncbigene/7471	7471	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12774	HGNC:12774	Wnt family member 1	The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is very conserved in evolution, and the protein encoded by this gene is known to be 98% identical to the mouse Wnt1 protein at the amino acid level. The studies in mouse indicate that the Wnt1 protein functions in the induction of the mesencephalon and cerebellum. This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature. However,  further studies suggested that the gene mutations might not have a significant role in Joubert syndrome. This gene is clustered with another family member, WNT10B, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200384	NANDO:2200384	WNT4	http://identifiers.org/ncbigene/54361	54361	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12783	HGNC:12783	Wnt family member 4	The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and is the first signaling molecule shown to influence the sex-determination cascade. It encodes a protein which shows 98% amino acid identity to the Wnt4 protein of mouse and rat. This gene and a nuclear receptor known to antagonize the testis-determining factor play a concerted role in both the control of female development and the prevention of testes formation. This gene and another two family members, WNT2 and WNT7B, may be associated with abnormal proliferation in breast tissue. Mutations in this gene can result in Rokitansky-Kuster-Hauser syndrome and in SERKAL syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200392	NANDO:2200392	WNT4	http://identifiers.org/ncbigene/54361	54361	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12783	HGNC:12783	Wnt family member 4	The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and is the first signaling molecule shown to influence the sex-determination cascade. It encodes a protein which shows 98% amino acid identity to the Wnt4 protein of mouse and rat. This gene and a nuclear receptor known to antagonize the testis-determining factor play a concerted role in both the control of female development and the prevention of testes formation. This gene and another two family members, WNT2 and WNT7B, may be associated with abnormal proliferation in breast tissue. Mutations in this gene can result in Rokitansky-Kuster-Hauser syndrome and in SERKAL syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200393	NANDO:2200393	WNT4	http://identifiers.org/ncbigene/54361	54361	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12783	HGNC:12783	Wnt family member 4	The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and is the first signaling molecule shown to influence the sex-determination cascade. It encodes a protein which shows 98% amino acid identity to the Wnt4 protein of mouse and rat. This gene and a nuclear receptor known to antagonize the testis-determining factor play a concerted role in both the control of female development and the prevention of testes formation. This gene and another two family members, WNT2 and WNT7B, may be associated with abnormal proliferation in breast tissue. Mutations in this gene can result in Rokitansky-Kuster-Hauser syndrome and in SERKAL syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200676	NANDO:1200676	WRN	http://identifiers.org/ncbigene/7486	7486	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12791	HGNC:12791	WRN RecQ like helicase	This gene encodes a member of the RecQ subfamily of DNA helicase proteins. The encoded nuclear protein is important in the maintenance of genome stability and plays a role in DNA repair, replication, transcription and telomere maintenance. This protein contains a N-terminal 3' to 5' exonuclease domain, an ATP-dependent helicase domain and RQC (RecQ helicase conserved region) domain in its central region, and a C-terminal HRDC (helicase RNase D C-terminal) domain and nuclear localization signal. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by accelerated aging and an elevated risk for certain cancers. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200831	NANDO:2200831	WRN	http://identifiers.org/ncbigene/7486	7486	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12791	HGNC:12791	WRN RecQ like helicase	This gene encodes a member of the RecQ subfamily of DNA helicase proteins. The encoded nuclear protein is important in the maintenance of genome stability and plays a role in DNA repair, replication, transcription and telomere maintenance. This protein contains a N-terminal 3' to 5' exonuclease domain, an ATP-dependent helicase domain and RQC (RecQ helicase conserved region) domain in its central region, and a C-terminal HRDC (helicase RNase D C-terminal) domain and nuclear localization signal. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by accelerated aging and an elevated risk for certain cancers. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2200043	NANDO:2200043	WT1	http://identifiers.org/ncbigene/7490	7490	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12796	HGNC:12796	WT1 transcription factor	This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilms tumor. This gene exhibits complex tissue-specific and polymorphic imprinting pattern, with biallelic, and monoallelic expression from the maternal and paternal alleles in different tissues. Multiple transcript variants have been described. In several variants, there is evidence for the use of a non-AUG (CUG) translation initiation codon upstream of, and in-frame with the first AUG. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated. [provided by RefSeq, Mar 2015]
http://nanbyodata.jp/ontology/NANDO_2200059	NANDO:2200059	WT1	http://identifiers.org/ncbigene/7490	7490	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12796	HGNC:12796	WT1 transcription factor	This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilms tumor. This gene exhibits complex tissue-specific and polymorphic imprinting pattern, with biallelic, and monoallelic expression from the maternal and paternal alleles in different tissues. Multiple transcript variants have been described. In several variants, there is evidence for the use of a non-AUG (CUG) translation initiation codon upstream of, and in-frame with the first AUG. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated. [provided by RefSeq, Mar 2015]
http://nanbyodata.jp/ontology/NANDO_2200110	NANDO:2200110	WT1	http://identifiers.org/ncbigene/7490	7490	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12796	HGNC:12796	WT1 transcription factor	This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilms tumor. This gene exhibits complex tissue-specific and polymorphic imprinting pattern, with biallelic, and monoallelic expression from the maternal and paternal alleles in different tissues. Multiple transcript variants have been described. In several variants, there is evidence for the use of a non-AUG (CUG) translation initiation codon upstream of, and in-frame with the first AUG. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated. [provided by RefSeq, Mar 2015]
http://nanbyodata.jp/ontology/NANDO_2200111	NANDO:2200111	WT1	http://identifiers.org/ncbigene/7490	7490	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12796	HGNC:12796	WT1 transcription factor	This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilms tumor. This gene exhibits complex tissue-specific and polymorphic imprinting pattern, with biallelic, and monoallelic expression from the maternal and paternal alleles in different tissues. Multiple transcript variants have been described. In several variants, there is evidence for the use of a non-AUG (CUG) translation initiation codon upstream of, and in-frame with the first AUG. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated. [provided by RefSeq, Mar 2015]
http://nanbyodata.jp/ontology/NANDO_2200383	NANDO:2200383	WT1	http://identifiers.org/ncbigene/7490	7490	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12796	HGNC:12796	WT1 transcription factor	This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilms tumor. This gene exhibits complex tissue-specific and polymorphic imprinting pattern, with biallelic, and monoallelic expression from the maternal and paternal alleles in different tissues. Multiple transcript variants have been described. In several variants, there is evidence for the use of a non-AUG (CUG) translation initiation codon upstream of, and in-frame with the first AUG. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated. [provided by RefSeq, Mar 2015]
http://nanbyodata.jp/ontology/NANDO_2200392	NANDO:2200392	WT1	http://identifiers.org/ncbigene/7490	7490	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12796	HGNC:12796	WT1 transcription factor	This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilms tumor. This gene exhibits complex tissue-specific and polymorphic imprinting pattern, with biallelic, and monoallelic expression from the maternal and paternal alleles in different tissues. Multiple transcript variants have been described. In several variants, there is evidence for the use of a non-AUG (CUG) translation initiation codon upstream of, and in-frame with the first AUG. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated. [provided by RefSeq, Mar 2015]
http://nanbyodata.jp/ontology/NANDO_2200588	NANDO:2200588	XDH	http://identifiers.org/ncbigene/7498	7498	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12805	HGNC:12805	xanthine dehydrogenase	Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jan 2014]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	XIAP	http://identifiers.org/ncbigene/331	331	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:592	HGNC:592	X-linked inhibitor of apoptosis	This gene encodes a protein that belongs to a family of apoptotic suppressor proteins. Members of this family share a conserved motif termed, baculovirus IAP repeat, which is necessary for their anti-apoptotic function. This protein functions through binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2 and inhibits apoptosis induced by menadione, a potent inducer of free radicals, and interleukin 1-beta converting enzyme. This protein also inhibits at least two members of the caspase family of cell-death proteases, caspase-3 and caspase-7. Mutations in this gene are the cause of X-linked lymphoproliferative syndrome. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 2 and 11.[provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_1200351	NANDO:1200351	XIAP	http://identifiers.org/ncbigene/331	331	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:592	HGNC:592	X-linked inhibitor of apoptosis	This gene encodes a protein that belongs to a family of apoptotic suppressor proteins. Members of this family share a conserved motif termed, baculovirus IAP repeat, which is necessary for their anti-apoptotic function. This protein functions through binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2 and inhibits apoptosis induced by menadione, a potent inducer of free radicals, and interleukin 1-beta converting enzyme. This protein also inhibits at least two members of the caspase family of cell-death proteases, caspase-3 and caspase-7. Mutations in this gene are the cause of X-linked lymphoproliferative syndrome. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 2 and 11.[provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_2200725	NANDO:2200725	XIAP	http://identifiers.org/ncbigene/331	331	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:592	HGNC:592	X-linked inhibitor of apoptosis	This gene encodes a protein that belongs to a family of apoptotic suppressor proteins. Members of this family share a conserved motif termed, baculovirus IAP repeat, which is necessary for their anti-apoptotic function. This protein functions through binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2 and inhibits apoptosis induced by menadione, a potent inducer of free radicals, and interleukin 1-beta converting enzyme. This protein also inhibits at least two members of the caspase family of cell-death proteases, caspase-3 and caspase-7. Mutations in this gene are the cause of X-linked lymphoproliferative syndrome. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 2 and 11.[provided by RefSeq, Feb 2011]
http://nanbyodata.jp/ontology/NANDO_1200013	NANDO:1200013	XK	http://identifiers.org/ncbigene/7504	7504	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12811	HGNC:12811	X-linked Kx blood group	This locus controls the synthesis of the Kell blood group 'precursor substance' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200015	NANDO:1200015	XK	http://identifiers.org/ncbigene/7504	7504	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12811	HGNC:12811	X-linked Kx blood group	This locus controls the synthesis of the Kell blood group 'precursor substance' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200608	NANDO:1200608	XPA	http://identifiers.org/ncbigene/7507	7507	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12814	HGNC:12814	XPA, DNA damage recognition and repair factor	This gene encodes a zinc finger protein plays a central role in nucleotide excision repair (NER), a specialized type of DNA repair. NER is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens and chemotherapeutic drugs. The encoded protein interacts with DNA and several NER proteins, acting as a scaffold to assemble the NER incision complex at sites of DNA damage. Mutations in this gene cause Xeroderma pigmentosum complementation group A (XP-A), an autosomal recessive skin disorder featuring hypersensitivity to sunlight and increased risk for skin cancer. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2201002	NANDO:2201002	XPA	http://identifiers.org/ncbigene/7507	7507	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12814	HGNC:12814	XPA, DNA damage recognition and repair factor	This gene encodes a zinc finger protein plays a central role in nucleotide excision repair (NER), a specialized type of DNA repair. NER is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens and chemotherapeutic drugs. The encoded protein interacts with DNA and several NER proteins, acting as a scaffold to assemble the NER incision complex at sites of DNA damage. Mutations in this gene cause Xeroderma pigmentosum complementation group A (XP-A), an autosomal recessive skin disorder featuring hypersensitivity to sunlight and increased risk for skin cancer. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1200608	NANDO:1200608	XPC	http://identifiers.org/ncbigene/7508	7508	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12816	HGNC:12816	XPC complex subunit, DNA damage recognition and repair factor	The protein encoded by this gene is a key component of the XPC complex, which plays an important role in the early steps of global genome nucleotide excision repair (NER). The encoded protein is important for damage sensing and DNA binding, and shows a preference for single-stranded DNA. Mutations in this gene or some other NER components can result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_2201002	NANDO:2201002	XPC	http://identifiers.org/ncbigene/7508	7508	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12816	HGNC:12816	XPC complex subunit, DNA damage recognition and repair factor	The protein encoded by this gene is a key component of the XPC complex, which plays an important role in the early steps of global genome nucleotide excision repair (NER). The encoded protein is important for damage sensing and DNA binding, and shows a preference for single-stranded DNA. Mutations in this gene or some other NER components can result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	XPNPEP3	http://identifiers.org/ncbigene/63929	63929	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28052	HGNC:28052	X-prolyl aminopeptidase 3	The protein encoded by this gene belongs to the family of X-pro-aminopeptidases that utilize a metal cofactor, and remove the N-terminal amino acid from peptides with a proline residue in the penultimate position. This protein has been shown to localize to the mitochondria of renal cells, and have a role in ciliary function. Mutations in this gene are associated with nephronophthisis-like nephropathy-1. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene, however, expression of some of these isoforms in vivo is not known.[provided by RefSeq, Mar 2011]
http://nanbyodata.jp/ontology/NANDO_1200207	NANDO:1200207	XPR1	http://identifiers.org/ncbigene/9213	9213	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12827	HGNC:12827	xenotropic and polytropic retrovirus receptor 1	The protein encoded by this gene is a receptor for the xenotropic and polytropic classes of murine leukemia viruses. The encoded protein is involved in phosphate homeostasis by mediating phosphate export from the cell. Defects in this gene have been associated with idiopathic basal ganglia calcification-6. [provided by RefSeq, Jun 2016]
http://nanbyodata.jp/ontology/NANDO_1200891	NANDO:1200891	XRCC2	http://identifiers.org/ncbigene/7516	7516	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12829	HGNC:12829	X-ray repair cross complementing 2	This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene is involved in the repair of DNA double-strand breaks by homologous recombination and it functionally complements Chinese hamster irs1, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200016	NANDO:1200016	YARS1	http://identifiers.org/ncbigene/8565	8565	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12840	HGNC:12840	tyrosyl-tRNA synthetase 1	Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Tyrosyl-tRNA synthetase belongs to the class I tRNA synthetase family. Cytokine activities have also been observed for the human tyrosyl-tRNA synthetase, after it is split into two parts, an N-terminal fragment that harbors the catalytic site and a C-terminal fragment found only in the mammalian enzyme. The N-terminal fragment is an interleukin-8-like cytokine, whereas the released C-terminal fragment is an EMAP II-like cytokine. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200616	NANDO:2200616	YARS2	http://identifiers.org/ncbigene/51067	51067	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24249	HGNC:24249	tyrosyl-tRNA synthetase 2	This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]
http://nanbyodata.jp/ontology/NANDO_1200953	NANDO:1200953	YEATS2	http://identifiers.org/ncbigene/55689	55689	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25489	HGNC:25489	YEATS domain containing 2	Summary: The protein encoded by this gene is a scaffolding subunit of the ATAC complex, which is a complex with acetyltransferase activity on histones H3 and H4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]
http://nanbyodata.jp/ontology/NANDO_1200574	NANDO:1200574	YWHAE	http://identifiers.org/ncbigene/7531	7531	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12851	HGNC:12851	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008]
http://nanbyodata.jp/ontology/NANDO_1201083	NANDO:1201083	YWHAE	http://identifiers.org/ncbigene/7531	7531	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12851	HGNC:12851	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008]
http://nanbyodata.jp/ontology/NANDO_2200817	NANDO:2200817	YWHAE	http://identifiers.org/ncbigene/7531	7531	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12851	HGNC:12851	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008]
http://nanbyodata.jp/ontology/NANDO_2200398	NANDO:2200398	YY1	http://identifiers.org/ncbigene/7528	7528	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12856	HGNC:12856	YY1 transcription factor	YY1 is a ubiquitously distributed transcription factor belonging to the GLI-Kruppel class of zinc finger proteins. The protein is involved in repressing and activating a diverse number of promoters.  YY1 may direct histone deacetylases and histone acetyltransferases to a promoter in order to activate or repress the promoter, thus implicating histone modification in the function of YY1. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200320	NANDO:1200320	ZAP70	http://identifiers.org/ncbigene/7535	7535	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12858	HGNC:12858	zeta chain of T cell receptor associated protein kinase 70	This gene encodes an enzyme belonging to the protein tyrosine kinase family, and it plays a role in T-cell development and lymphocyte activation. This enzyme, which is phosphorylated on tyrosine residues upon T-cell antigen receptor (TCR) stimulation, functions in the initial step of TCR-mediated signal transduction in combination with the Src family kinases, Lck and Fyn. This enzyme is also essential for thymocyte development. Mutations in this gene cause selective T-cell defect, a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T-cells. Two transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200327	NANDO:1200327	ZAP70	http://identifiers.org/ncbigene/7535	7535	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12858	HGNC:12858	zeta chain of T cell receptor associated protein kinase 70	This gene encodes an enzyme belonging to the protein tyrosine kinase family, and it plays a role in T-cell development and lymphocyte activation. This enzyme, which is phosphorylated on tyrosine residues upon T-cell antigen receptor (TCR) stimulation, functions in the initial step of TCR-mediated signal transduction in combination with the Src family kinases, Lck and Fyn. This enzyme is also essential for thymocyte development. Mutations in this gene cause selective T-cell defect, a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T-cells. Two transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200700	NANDO:2200700	ZAP70	http://identifiers.org/ncbigene/7535	7535	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12858	HGNC:12858	zeta chain of T cell receptor associated protein kinase 70	This gene encodes an enzyme belonging to the protein tyrosine kinase family, and it plays a role in T-cell development and lymphocyte activation. This enzyme, which is phosphorylated on tyrosine residues upon T-cell antigen receptor (TCR) stimulation, functions in the initial step of TCR-mediated signal transduction in combination with the Src family kinases, Lck and Fyn. This enzyme is also essential for thymocyte development. Mutations in this gene cause selective T-cell defect, a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T-cells. Two transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200663	NANDO:1200663	ZEB2	http://identifiers.org/ncbigene/9839	9839	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14881	HGNC:14881	zinc finger E-box binding homeobox 2	The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_2200981	NANDO:2200981	ZEB2	http://identifiers.org/ncbigene/9839	9839	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14881	HGNC:14881	zinc finger E-box binding homeobox 2	The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jan 2010]
http://nanbyodata.jp/ontology/NANDO_2200463	NANDO:2200463	ZFP57	http://identifiers.org/ncbigene/346171	346171	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18791	HGNC:18791	ZFP57 zinc finger protein	The protein encoded by this gene is a zinc finger protein containing a KRAB domain. Studies in mouse suggest that this protein may function as a transcriptional repressor. Mutations in this gene have been associated with transient neonatal diabetes mellitus type 1 (TNDM1).[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2201434	NANDO:2201434	ZFP57	http://identifiers.org/ncbigene/346171	346171	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18791	HGNC:18791	ZFP57 zinc finger protein	The protein encoded by this gene is a zinc finger protein containing a KRAB domain. Studies in mouse suggest that this protein may function as a transcriptional repressor. Mutations in this gene have been associated with transient neonatal diabetes mellitus type 1 (TNDM1).[provided by RefSeq, Sep 2009]
http://nanbyodata.jp/ontology/NANDO_2200821	NANDO:2200821	ZIC1	http://identifiers.org/ncbigene/7545	7545	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12872	HGNC:12872	Zic family member 1	This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development. Aberrant expression of this gene is seen in medulloblastoma, a childhood brain tumor. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 4, a related family member on chromosome 3. This gene encodes a transcription factor that can bind and transactivate the apolipoprotein E gene. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200819	NANDO:2200819	ZIC2	http://identifiers.org/ncbigene/7546	7546	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12873	HGNC:12873	Zic family member 2	This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Expansion of an alanine repeat in the C-terminus of the encoded protein and other mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13. [provided by RefSeq, Jul 2016]
http://nanbyodata.jp/ontology/NANDO_2200821	NANDO:2200821	ZIC4	http://identifiers.org/ncbigene/84107	84107	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20393	HGNC:20393	Zic family member 4	This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development, and have been associated with X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 1, a related family member on chromosome 3. Heterozygous deletion of these linked genes is involved in Dandy-Walker malformation, which is a congenital cerebellar malformation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Dec 2009]
http://nanbyodata.jp/ontology/NANDO_1200858	NANDO:1200858	ZMPSTE24	http://identifiers.org/ncbigene/10269	10269	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12877	HGNC:12877	zinc metallopeptidase STE24	This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200861	NANDO:1200861	ZMPSTE24	http://identifiers.org/ncbigene/10269	10269	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12877	HGNC:12877	zinc metallopeptidase STE24	This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2200404	NANDO:2200404	ZMPSTE24	http://identifiers.org/ncbigene/10269	10269	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12877	HGNC:12877	zinc metallopeptidase STE24	This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201443	NANDO:2201443	ZMPSTE24	http://identifiers.org/ncbigene/10269	10269	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12877	HGNC:12877	zinc metallopeptidase STE24	This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_2201446	NANDO:2201446	ZMPSTE24	http://identifiers.org/ncbigene/10269	10269	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12877	HGNC:12877	zinc metallopeptidase STE24	This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201096	NANDO:1201096	ZMYND10	http://identifiers.org/ncbigene/51364	51364	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19412	HGNC:19412	zinc finger MYND-type containing 10	This gene encodes a protein containing a MYND-type zinc finger domain that likely functions in assembly of the dynein motor. Mutations in this gene can cause primary ciliary dyskinesia. This gene is also considered a tumor suppressor gene and is often mutated, deleted, or hypermethylated and silenced in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
http://nanbyodata.jp/ontology/NANDO_2200016	NANDO:2200016	ZNF384	http://identifiers.org/ncbigene/171017	171017	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11955	HGNC:11955	zinc finger protein 384	This gene encodes a C2H2-type zinc finger protein, which may function as a transcription factor. This gene also contains long CAG trinucleotide repeats that encode consecutive glutamine residues. The protein appears to bind and regulate the promoters of the extracellular matrix genes MMP1, MMP3, MMP7 and COL1A1. Studies in mouse suggest that nuclear matrix transcription factors (NP/NMP4) may be part of a general mechanical pathway that couples cell construction and function during extracellular matrix remodeling. Alternative splicing results in multiple transcript variants. Recurrent rearrangements of this gene with the Ewing's sarcoma gene, EWSR1 on chromosome 22, or with the TAF15 gene on chromosome 17, or with the TCF3 (E2A) gene on chromosome 19, have been observed in acute leukemia. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Apr 2011]
http://nanbyodata.jp/ontology/NANDO_1200661	NANDO:1200661	ZNF423	http://identifiers.org/ncbigene/23090	23090	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16762	HGNC:16762	zinc finger protein 423	The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012]
http://nanbyodata.jp/ontology/NANDO_1201036	NANDO:1201036	ZNF423	http://identifiers.org/ncbigene/23090	23090	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16762	HGNC:16762	zinc finger protein 423	The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012]
http://nanbyodata.jp/ontology/NANDO_2200140	NANDO:2200140	ZNF423	http://identifiers.org/ncbigene/23090	23090	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16762	HGNC:16762	zinc finger protein 423	The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012]
http://nanbyodata.jp/ontology/NANDO_1200645	NANDO:1200645	ZNF469	http://identifiers.org/ncbigene/84627	84627	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23216	HGNC:23216	zinc finger protein 469	This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1201087	NANDO:1201087	ZNF469	http://identifiers.org/ncbigene/84627	84627	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23216	HGNC:23216	zinc finger protein 469	This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008]
http://nanbyodata.jp/ontology/NANDO_1200793	NANDO:1200793	cblB	http://identifiers.org/ncbigene/868	868	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1542	HGNC:1542	Cbl proto-oncogene B	This gene encodes an E3 ubiquitin-protein ligase which promotes proteosome-mediated protein degradation by transferring ubiquitin from an E2 ubiquitin-conjugating enzyme to a substrate. The encoded protein is involved in the regulation of immune response by limiting T-cell receptor, B-cell receptor, and high affinity immunoglobulin epsilon receptor activation. Studies in mouse suggest that this gene is involved in antifungal host defense and that its inhibition leads to increased fungal killing. Manipulation of this gene may be beneficial in implementing immunotherapies for a variety of conditions, including cancer, autoimmune diseases, allergies, and infections. [provided by RefSeq, Sep 2017]
http://nanbyodata.jp/ontology/NANDO_1200796	NANDO:1200796	cblB	http://identifiers.org/ncbigene/868	868	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1542	HGNC:1542	Cbl proto-oncogene B	This gene encodes an E3 ubiquitin-protein ligase which promotes proteosome-mediated protein degradation by transferring ubiquitin from an E2 ubiquitin-conjugating enzyme to a substrate. The encoded protein is involved in the regulation of immune response by limiting T-cell receptor, B-cell receptor, and high affinity immunoglobulin epsilon receptor activation. Studies in mouse suggest that this gene is involved in antifungal host defense and that its inhibition leads to increased fungal killing. Manipulation of this gene may be beneficial in implementing immunotherapies for a variety of conditions, including cancer, autoimmune diseases, allergies, and infections. [provided by RefSeq, Sep 2017]
http://nanbyodata.jp/ontology/NANDO_2200888	NANDO:2200888	nup62	http://identifiers.org/ncbigene/23636	23636	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8066	HGNC:8066	nucleoporin 62	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins and is localized to the nuclear pore central plug. This protein associates with the importin alpha/beta complex which is involved in the import of proteins containing nuclear localization signals. Multiple transcript variants of this gene encode a single protein isoform. [provided by RefSeq, Jul 2008]