{ "metaData": { "release": "RGD-2024-SEP-12", "dateProduced": "2026-04-03T23:39:31.256-05:00", "dataProvider": { "crossReference": { "pages": [ "homepage" ], "id": "RGD" }, "type": "curated" } }, "data": [ { "symbol": "A1BG", "geneSynopsis": "The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "alpha-1-B glycoprotein", "basicGeneticEntity": { "synonyms": [ "A1B", "ABG", "DKFZp686F0970", "GAB", "HEL-S-163pA", "HYST2477", "alpha-1B-glycoprotein", "epididymis secretory sperm binding protein Li 163pA" ], "secondaryIds": [ "RGD:69466" ], "genomeLocations": [ { "strand": "-", "endPosition": 58353492, "chromosome": "19", "assembly": "GRCh38", "startPosition": 58345178 } ], "primaryId": "HGNC:5", "crossReferences": [ { "id": "ENSEMBL:ENSG00000121410" }, { "id": "NCBI_Gene:1" }, { "id": "PANTHER:PTHR11738" }, { "id": "UniProtKB:P04217" }, { "pages": [ "gene/references" ], "id": "RGD:69466" }, { "pages": [ "gene" ], "id": "HGNC:5" }, { "id": "RGD:69466" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "A1BG-AS1", "geneSynopsis": "INTERACTS WITH acrylamide; fipronil; N,N-diethyl-m-toluamide", "soTermId": "SO:0001263", "name": "A1BG antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "A1BG-AS", "A1BGAS", "FLJ23569", "NCRNA00181" ], "secondaryIds": [ "RGD:2311720" ], "genomeLocations": [ { "strand": "+", "endPosition": 58355455, "chromosome": "19", "assembly": "GRCh38", "startPosition": 58347718 } ], "primaryId": "HGNC:37133", "crossReferences": [ { "id": "ENSEMBL:ENSG00000268895" }, { "id": "NCBI_Gene:503538" }, { "pages": [ "gene/references" ], "id": "RGD:2311720" }, { "pages": [ "gene" ], "id": "HGNC:37133" }, { "id": "RGD:2311720" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "A1CF", "geneSynopsis": "Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation factor encoded by this gene. The gene product has three non-identical RNA recognition motifs and belongs to the hnRNP R family of RNA-binding proteins. It has been proposed that this complementation factor functions as an RNA-binding subunit and docks APOBEC-1 to deaminate the upstream cytidine. Studies suggest that the protein may also be involved in other RNA editing or RNA processing events. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]", "soTermId": "SO:0001217", "name": "APOBEC1 complementation factor", "basicGeneticEntity": { "synonyms": [ "ACF", "ACF64", "ACF65", "APOBEC-1 stimulating protein", "APOBEC1-stimulating protein", "APOBEC1CF", "ASP", "MGC163391", "RP11-564C4.2", "apo-B RNA editing protein", "apobec-1 complementation factor (ACF) (ASP)", "apobec-1 complementation factor, apobec-1 stimulating protein" ], "secondaryIds": [ "RGD:733348" ], "genomeLocations": [ { "strand": "-", "endPosition": 50885716, "chromosome": "10", "assembly": "GRCh38", "startPosition": 50799409 } ], "primaryId": "HGNC:24086", "crossReferences": [ { "id": "ENSEMBL:ENSG00000148584" }, { "id": "NCBI_Gene:29974" }, { "id": "PANTHER:PTHR21245" }, { "id": "UniProtKB:Q9NQ94" }, { "pages": [ "gene/references" ], "id": "RGD:733348" }, { "pages": [ "gene" ], "id": "HGNC:24086" }, { "id": "RGD:733348" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "A2M", "geneSynopsis": "The protein encoded by this gene is a protease inhibitor and cytokine transporter. It uses a bait-and-trap mechanism to inhibit a broad spectrum of proteases, including trypsin, thrombin and collagenase. It can also inhibit inflammatory cytokines, and it thus disrupts inflammatory cascades. Mutations in this gene are a cause of alpha-2-macroglobulin deficiency. This gene is implicated in Alzheimer's disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. A related pseudogene, which is also located on the p arm of chromosome 12, has been identified. [provided by RefSeq, Nov 2016]", "soTermId": "SO:0001217", "name": "alpha-2-macroglobulin", "basicGeneticEntity": { "synonyms": [ "A2MD", "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 5", "CPAMD5", "DKFZp779B086", "FWP007", "S863-7", "alpha-2-M" ], "secondaryIds": [ "RGD:735738" ], "genomeLocations": [ { "strand": "-", "endPosition": 9116229, "chromosome": "12", "assembly": "GRCh38", "startPosition": 9067664 } ], "primaryId": "HGNC:7", "crossReferences": [ { "id": "ENSEMBL:ENSG00000175899" }, { "id": "NCBI_Gene:2" }, { "id": "PANTHER:PTHR11412" }, { "id": "UniProtKB:P01023" }, { "pages": [ "gene/references" ], "id": "RGD:735738" }, { "pages": [ "gene" ], "id": "HGNC:7" }, { "id": "RGD:735738" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "A2M-AS1", "geneSynopsis": "INTERACTS WITH aflatoxin B1; dorsomorphin; methylmercury chloride", "soTermId": "SO:0001263", "name": "A2M antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "A2M antisense RNA 1 (head to head)", "RP11-436I9.2" ], "secondaryIds": [ "RGD:6766578" ], "genomeLocations": [ { "strand": "+", "endPosition": 9068689, "chromosome": "12", "assembly": "GRCh38", "startPosition": 9065163 } ], "primaryId": "HGNC:27057", "crossReferences": [ { "id": "ENSEMBL:ENSG00000245105" }, { "id": "NCBI_Gene:144571" }, { "pages": [ "gene/references" ], "id": "RGD:6766578" }, { "pages": [ "gene" ], "id": "HGNC:27057" }, { "id": "RGD:6766578" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "A2ML1", "geneSynopsis": "This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID:20805888). Mutations in these gene have also been associated with some cases of Noonan syndrome (NS; PMID:24939586) as well as some cases of otitis media (PMID:26121085). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]", "soTermId": "SO:0001217", "name": "alpha-2-macroglobulin like 1", "basicGeneticEntity": { "synonyms": [ "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 9", "C3 and PZP-like, alpha-2-macroglobulin domain containing 9", "CPAMD9", "DKFZp686C1729", "DKFZp686D2011", "DKFZp686G1812", "DKFZp686L1821", "DKFZp686O1010", "FLJ16045", "FLJ25179", "FLJ39129", "FLJ41597", "FLJ41598", "FLJ41607", "OMS", "alpha-2-macroglobulin-like 1", "alpha-2-macroglobulin-like protein 1", "p170" ], "secondaryIds": [ "RGD:1606453" ], "genomeLocations": [ { "strand": "+", "endPosition": 8887459, "chromosome": "12", "assembly": "GRCh38", "startPosition": 8822621 } ], "primaryId": "HGNC:23336", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166535" }, { "id": "NCBI_Gene:144568" }, { "id": "PANTHER:PTHR11412" }, { "id": "UniProtKB:A8K2U0" }, { "pages": [ "gene/references" ], "id": "RGD:1606453" }, { "pages": [ "gene" ], "id": "HGNC:23336" }, { "id": "RGD:1606453" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "A2ML1-AS1", "soTermId": "SO:0001263", "name": "A2ML1 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481317" ], "genomeLocations": [ { "strand": "-", "endPosition": 8831306, "chromosome": "12", "assembly": "GRCh38", "startPosition": 8776211 } ], "primaryId": "HGNC:41022", "crossReferences": [ { "id": "ENSEMBL:ENSG00000256661" }, { "id": "NCBI_Gene:100874108" }, { "pages": [ "gene/references" ], "id": "RGD:6481317" }, { "pages": [ "gene" ], "id": "HGNC:41022" }, { "id": "RGD:6481317" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "A2ML1-AS2", "soTermId": "SO:0001263", "name": "A2ML1 antisense RNA 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:10413359" ], "genomeLocations": [ { "strand": "-", "endPosition": 8820713, "chromosome": "12", "assembly": "GRCh38", "startPosition": 8819816 } ], "primaryId": "HGNC:41523", "crossReferences": [ { "id": "ENSEMBL:ENSG00000256904" }, { "id": "NCBI_Gene:106478979" }, { "pages": [ "gene/references" ], "id": "RGD:10413359" }, { "pages": [ "gene" ], "id": "HGNC:41523" }, { "id": "RGD:10413359" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "A3GALT2", "geneSynopsis": "Predicted to enable N-acetyllactosaminide 3-alpha-galactosyltransferase activity and alpha-1,3-galactosyltransferase activity. Predicted to be involved in lipid glycosylation. Predicted to act upstream of or within glycosphingolipid biosynthetic process. Predicted to be located in Golgi cisterna membrane. Predicted to be active in Golgi apparatus and vesicle. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "alpha 1,3-galactosyltransferase 2", "basicGeneticEntity": { "synonyms": [ "A3GALT2P", "IGB3S", "IGBS3S", "alpha 1,3-galactosyltransferase 2, pseudogene", "alpha-1,3-galactosyltransferase 2", "globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 pseudogene", "iGb3 synthase", "isoglobotriaosylceramide synthase" ], "secondaryIds": [ "RGD:1606731" ], "genomeLocations": [ { "strand": "-", "endPosition": 33321098, "chromosome": "1", "assembly": "GRCh38", "startPosition": 33306766 } ], "primaryId": "HGNC:30005", "crossReferences": [ { "id": "ENSEMBL:ENSG00000184389" }, { "id": "NCBI_Gene:127550" }, { "id": "PANTHER:PTHR10462" }, { "id": "UniProtKB:U3KPV4" }, { "pages": [ "gene/references" ], "id": "RGD:1606731" }, { "pages": [ "gene" ], "id": "HGNC:30005" }, { "id": "RGD:1606731" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "A4GALT", "geneSynopsis": "The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. This protein, a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]", "soTermId": "SO:0001217", "name": "alpha 1,4-galactosyltransferase (P1PK blood group)", "basicGeneticEntity": { "synonyms": [ "A14GALT", "A4GALT1", "CD77 synthase", "GB3 synthase", "Gb3S", "P blood group (P one antigen)", "P one antigen (P blood group)", "P(k)", "P(k) antigen synthase", "P1", "P1/Pk synthase", "P1PK", "PK", "UDP-galactose:beta-D-galactosyl-beta1-R 4-alpha-D-galactosyltransferase", "alpha 1,4-galactosyltransferase", "alpha 1,4-galactosyltransferase (P blood group)", "alpha 14-galactosyltransferase", "alpha-1,4-N-acetylglucosaminyltransferase", "alpha-1,4-galactosyltransferase", "alpha4Gal-T1", "globotriaosylceramide synthase", "lactosylceramide 4-alpha-galactosyltransferase", "truncated alpha 1,4-galactosyltransferase" ], "secondaryIds": [ "RGD:734223" ], "genomeLocations": [ { "strand": "-", "endPosition": 42721301, "chromosome": "22", "assembly": "GRCh38", "startPosition": 42691010 } ], "primaryId": "HGNC:18149", "crossReferences": [ { "id": "ENSEMBL:ENSG00000128274" }, { "id": "NCBI_Gene:53947" }, { "id": "PANTHER:PTHR12042" }, { "id": "UniProtKB:Q9NPC4" }, { "pages": [ "gene/references" ], "id": "RGD:734223" }, { "pages": [ "gene" ], "id": "HGNC:18149" }, { "id": "RGD:734223" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "A4GNT", "geneSynopsis": "This gene encodes a protein from the glycosyltransferase 32 family. The enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. It forms a unique glycan, GlcNAcalpha1-->4Galbeta-->R and is largely associated with the Golgi apparatus membrane. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "alpha-1,4-N-acetylglucosaminyltransferase", "basicGeneticEntity": { "synonyms": [ "MGC149493", "alpha4GnT" ], "secondaryIds": [ "RGD:1348447" ], "genomeLocations": [ { "strand": "-", "endPosition": 138133302, "chromosome": "3", "assembly": "GRCh38", "startPosition": 138122901 } ], "primaryId": "HGNC:17968", "crossReferences": [ { "id": "ENSEMBL:ENSG00000118017" }, { "id": "NCBI_Gene:51146" }, { "id": "PANTHER:PTHR12042" }, { "id": "UniProtKB:Q9UNA3" }, { "pages": [ "gene/references" ], "id": "RGD:1348447" }, { "pages": [ "gene" ], "id": "HGNC:17968" }, { "id": "RGD:1348447" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AAAS", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "aladin WD repeat nucleoporin", "basicGeneticEntity": { "synonyms": [ "AAA", "AAASb", "ADRACALA", "ADRACALIN", "Allgrove, triple-A", "DKFZp586G1624", "GL003", "achalasia, adrenocortical insufficiency, alacrimia", "achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)", "aladin" ], "secondaryIds": [ "RGD:1318625" ], "genomeLocations": [ { "strand": "-", "endPosition": 53324864, "chromosome": "12", "assembly": "GRCh38", "startPosition": 53307456 } ], "primaryId": "HGNC:13666", "crossReferences": [ { "id": "ENSEMBL:ENSG00000291836" }, { "id": "ENSEMBL:ENSG00000094914" }, { "id": "NCBI_Gene:8086" }, { "id": "PANTHER:PTHR14494" }, { "id": "UniProtKB:Q9NRG9" }, { "pages": [ "gene/references" ], "id": "RGD:1318625" }, { "pages": [ "gene" ], "id": "HGNC:13666" }, { "id": "RGD:1318625" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AACS", "geneSynopsis": "Predicted to enable acetoacetate-CoA ligase activity. Predicted to be involved in positive regulation of insulin secretion. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "acetoacetyl-CoA synthetase", "basicGeneticEntity": { "synonyms": [ "ACSF1", "FLJ12389", "FLJ41251", "SUR-5", "acetoacetate-CoA ligase", "acyl-CoA synthetase family member 1", "homolog of C. elegans supressor of ras 5 (sur-5)", "protein sur-5 homolog" ], "secondaryIds": [ "RGD:732340" ], "genomeLocations": [ { "strand": "+", "endPosition": 125143333, "chromosome": "12", "assembly": "GRCh38", "startPosition": 125065364 } ], "primaryId": "HGNC:21298", "crossReferences": [ { "id": "ENSEMBL:ENSG00000081760" }, { "id": "NCBI_Gene:65985" }, { "id": "PANTHER:PTHR42921" }, { "id": "UniProtKB:Q86V21" }, { "pages": [ "gene/references" ], "id": "RGD:732340" }, { "pages": [ "gene" ], "id": "HGNC:21298" }, { "id": "RGD:732340" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AACSP1", "geneSynopsis": "INTERACTS WITH 2-hydroxypropanoic acid; arsane; arsenic atom", "soTermId": "SO:0000336", "name": "acetoacetyl-CoA synthetase pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AACSL" ], "secondaryIds": [ "RGD:1604681" ], "genomeLocations": [ { "strand": "-", "endPosition": 178818435, "chromosome": "5", "assembly": "GRCh38", "startPosition": 178764861 } ], "primaryId": "HGNC:18226", "crossReferences": [ { "id": "ENSEMBL:ENSG00000250420" }, { "id": "ENSEMBL:ENSG00000291019" }, { "id": "NCBI_Gene:729522" }, { "pages": [ "gene/references" ], "id": "RGD:1604681" }, { "pages": [ "gene" ], "id": "HGNC:18226" }, { "id": "RGD:1604681" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AADAC", "geneSynopsis": "Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for arylamine and heterocyclic amine carcinogens [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "arylacetamide deacetylase", "basicGeneticEntity": { "synonyms": [ "CES5A1", "DAC", "arylacetamide deacetylase (esterase)" ], "secondaryIds": [ "RGD:737554" ], "genomeLocations": [ { "strand": "+", "endPosition": 151828917, "chromosome": "3", "assembly": "GRCh38", "startPosition": 151813931 } ], "primaryId": "HGNC:17", "crossReferences": [ { "id": "ENSEMBL:ENSG00000114771" }, { "id": "NCBI_Gene:13" }, { "id": "PANTHER:PTHR48081" }, { "id": "UniProtKB:P22760" }, { "pages": [ "gene/references" ], "id": "RGD:737554" }, { "pages": [ "gene" ], "id": "HGNC:17" }, { "id": "RGD:737554" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AADACL2", "geneSynopsis": "Predicted to enable carboxylic ester hydrolase activity. Predicted to be located in extracellular region and membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "arylacetamide deacetylase like 2", "basicGeneticEntity": { "synonyms": [ "MGC72001", "arylacetamide deacetylase-like 2" ], "secondaryIds": [ "RGD:1606396" ], "genomeLocations": [ { "strand": "+", "endPosition": 151761339, "chromosome": "3", "assembly": "GRCh38", "startPosition": 151733916 } ], "primaryId": "HGNC:24427", "crossReferences": [ { "id": "ENSEMBL:ENSG00000197953" }, { "id": "ENSEMBL:ENSG00000261846" }, { "id": "NCBI_Gene:344752" }, { "id": "PANTHER:PTHR48081" }, { "id": "UniProtKB:Q6P093" }, { "pages": [ "gene/references" ], "id": "RGD:1606396" }, { "pages": [ "gene" ], "id": "HGNC:24427" }, { "id": "RGD:1606396" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AADACL2-AS1", "soTermId": "SO:0001263", "name": "AADACL2 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:8552198" ], "genomeLocations": [ { "strand": "-", "endPosition": 151928178, "chromosome": "3", "assembly": "GRCh38", "startPosition": 151552378 } ], "primaryId": "HGNC:50301", "crossReferences": [ { "id": "ENSEMBL:ENSG00000242908" }, { "id": "NCBI_Gene:101928142" }, { "pages": [ "gene/references" ], "id": "RGD:8552198" }, { "pages": [ "gene" ], "id": "HGNC:50301" }, { "id": "RGD:8552198" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AADACL3", "geneSynopsis": "Predicted to enable carboxylic ester hydrolase activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "arylacetamide deacetylase like 3", "basicGeneticEntity": { "synonyms": [ "RP11-474O21.3", "arylacetamide deacetylase-like 3" ], "secondaryIds": [ "RGD:1602438" ], "genomeLocations": [ { "strand": "+", "endPosition": 12728760, "chromosome": "1", "assembly": "GRCh38", "startPosition": 12716110 } ], "primaryId": "HGNC:32037", "crossReferences": [ { "id": "ENSEMBL:ENSG00000188984" }, { "id": "NCBI_Gene:126767" }, { "id": "PANTHER:PTHR48081" }, { "id": "UniProtKB:Q5VUY0" }, { "pages": [ "gene/references" ], "id": "RGD:1602438" }, { "pages": [ "gene" ], "id": "HGNC:32037" }, { "id": "RGD:1602438" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AADACL4", "geneSynopsis": "Predicted to enable carboxylic ester hydrolase activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "arylacetamide deacetylase like 4", "basicGeneticEntity": { "synonyms": [ "arylacetamide deacetylase-like 4" ], "secondaryIds": [ "RGD:1603850" ], "genomeLocations": [ { "strand": "+", "endPosition": 12667076, "chromosome": "1", "assembly": "GRCh38", "startPosition": 12644085 } ], "primaryId": "HGNC:32038", "crossReferences": [ { "id": "ENSEMBL:ENSG00000204518" }, { "id": "NCBI_Gene:343066" }, { "id": "PANTHER:PTHR48081" }, { "id": "UniProtKB:Q5VUY2" }, { "pages": [ "gene/references" ], "id": "RGD:1603850" }, { "pages": [ "gene" ], "id": "HGNC:32038" }, { "id": "RGD:1603850" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AADACP1", "geneSynopsis": "INTERACTS WITH 4,4'-sulfonyldiphenol; aflatoxin B1; benzo[a]pyrene", "soTermId": "SO:0000336", "name": "arylacetamide deacetylase pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:8552214" ], "genomeLocations": [ { "strand": "+", "endPosition": 151784945, "chromosome": "3", "assembly": "GRCh38", "startPosition": 151766699 } ], "primaryId": "HGNC:50305", "crossReferences": [ { "id": "ENSEMBL:ENSG00000240602" }, { "id": "ENSEMBL:ENSG00000291076" }, { "id": "NCBI_Gene:201651" }, { "pages": [ "gene/references" ], "id": "RGD:8552214" }, { "pages": [ "gene" ], "id": "HGNC:50305" }, { "id": "RGD:8552214" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AADAT", "geneSynopsis": "This gene encodes a protein that is highly similar to mouse and rat kynurenine aminotransferase II. The rat protein is a homodimer with two transaminase activities. One activity is the transamination of alpha-aminoadipic acid, a final step in the saccaropine pathway which is the major pathway for L-lysine catabolism. The other activity involves the transamination of kynurenine to produce kynurenine acid, the precursor of kynurenic acid which has neuroprotective properties. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]", "soTermId": "SO:0001217", "name": "aminoadipate aminotransferase", "basicGeneticEntity": { "synonyms": [ "2-aminoadipate aminotransferase", "2-aminoadipate transaminase", "KAT/AadAT", "KAT2", "KATII", "KYAT2", "L kynurenine/alpha aminoadipate aminotransferase", "alpha-aminoadipate aminotransferase", "glycine transaminase AADAT", "kynurenine aminotransferase II", "kynurenine--glyoxylate transaminase AADAT", "kynurenine--oxoglutarate aminotransferase II", "kynurenine--oxoglutarate transaminase 2", "kynurenine--oxoglutarate transaminase II", "kynurenine/alpha-aminoadipate aminotransferase, mitochondrial", "methionine--glyoxylate transaminase AADAT" ], "secondaryIds": [ "RGD:1606004" ], "genomeLocations": [ { "strand": "-", "endPosition": 170094292, "chromosome": "4", "assembly": "GRCh38", "startPosition": 170060219 } ], "primaryId": "HGNC:17929", "crossReferences": [ { "id": "ENSEMBL:ENSG00000109576" }, { "id": "NCBI_Gene:51166" }, { "id": "PANTHER:PTHR42790" }, { "id": "UniProtKB:Q8N5Z0" }, { "pages": [ "gene/references" ], "id": "RGD:1606004" }, { "pages": [ "gene" ], "id": "HGNC:17929" }, { "id": "RGD:1606004" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AAGAB", "geneSynopsis": "The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]", "soTermId": "SO:0001217", "name": "alpha and gamma adaptin binding protein", "basicGeneticEntity": { "synonyms": [ "DKFZp667D2317", "DKFZp686G08119", "FLJ11506", "KPPP1", "PPKP1", "PPKP1A", "alpha- and gamma-adaptin-binding protein p34", "p34", "punctate palmoplantar keratoderma type I" ], "secondaryIds": [ "RGD:1605954" ], "genomeLocations": [ { "strand": "-", "endPosition": 67255198, "chromosome": "15", "assembly": "GRCh38", "startPosition": 67200667 } ], "primaryId": "HGNC:25662", "crossReferences": [ { "id": "ENSEMBL:ENSG00000103591" }, { "id": "NCBI_Gene:79719" }, { "id": "PANTHER:PTHR14659" }, { "id": "UniProtKB:Q6PD74" }, { "pages": [ "gene/references" ], "id": "RGD:1605954" }, { "pages": [ "gene" ], "id": "HGNC:25662" }, { "id": "RGD:1605954" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AAK1", "geneSynopsis": "This gene encodes a member of the SNF1 subfamily of serine/threonine protein kinases. Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clathrin assembly, interact with membrane-bound receptors, and recruit encodytic accessory factors. The encoded protein interacts with and phosphorylates a subunit of the AP-2 complex, which promotes binding of AP-2 to sorting signals found in membrane-bound receptors and subsequent receptor endocytosis. Its kinase activity is stimulated by clathrin. This kinase has been shown to play an important role in regulating the clathrin-mediated endocytosis of the rabies virus, facilitating infection. Inhibitors of this kinase are being studied as candidate therapeutics to disrupt the entry of viruses, including SARS-CoV-2, into target cells. It is also involved in positive regulation of Notch pathway signaling in mammals. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Aug 2020]", "soTermId": "SO:0001217", "name": "AP2 associated kinase 1", "basicGeneticEntity": { "synonyms": [ "AP2-associated protein kinase 1", "DKFZp686F03202", "DKFZp686K16132", "FLJ23712", "FLJ25931", "FLJ31060", "FLJ42882", "FLJ45252", "KIAA1048", "LOC112268437", "MGC138170", "MGC164568", "MGC164570", "RP11-427H3.3", "adaptor-associated kinase 1", "alternative protein AAK1", "hypothetical LOC388957", "uncharacterized protein FLJ45252" ], "secondaryIds": [ "RGD:1313595" ], "genomeLocations": [ { "strand": "-", "endPosition": 69674349, "chromosome": "2", "assembly": "GRCh38", "startPosition": 69457997 } ], "primaryId": "HGNC:19679", "crossReferences": [ { "id": "ENSEMBL:ENSG00000115977" }, { "id": "NCBI_Gene:22848" }, { "id": "PANTHER:PTHR47907" }, { "id": "UniProtKB:Q2M2I8" }, { "pages": [ "gene/references" ], "id": "RGD:1313595" }, { "pages": [ "gene" ], "id": "HGNC:19679" }, { "id": "RGD:1313595" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AAMDC", "geneSynopsis": "Predicted to be involved in positive regulation of fat cell differentiation. Predicted to act upstream of or within negative regulation of apoptotic process and positive regulation of transcription by RNA polymerase II. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "adipogenesis associated Mth938 domain containing", "basicGeneticEntity": { "synonyms": [ "C11orf67", "CK067", "FLJ21035", "MGC3367", "PTD015", "UPF0366 protein C11orf67", "adipogenesis associated Mth938 domain-containing protein", "adipogenesis associated, Mth938 domain containing", "hypothetical protein LOC28971", "mth938 domain-containing protein" ], "secondaryIds": [ "RGD:1603054" ], "genomeLocations": [ { "strand": "+", "endPosition": 77918432, "chromosome": "11", "assembly": "GRCh38", "startPosition": 77821100 } ], "primaryId": "HGNC:30205", "crossReferences": [ { "id": "ENSEMBL:ENSG00000087884" }, { "id": "NCBI_Gene:28971" }, { "id": "PANTHER:PTHR15811" }, { "id": "UniProtKB:Q9H7C9" }, { "pages": [ "gene/references" ], "id": "RGD:1603054" }, { "pages": [ "gene" ], "id": "HGNC:30205" }, { "id": "RGD:1603054" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AAMP", "geneSynopsis": "The gene is a member of the immunoglobulin superfamily. The encoded protein is associated with angiogenesis, with potential roles in endothelial tube formation and the migration of endothelial cells. It may also regulate smooth muscle cell migration via the RhoA pathway. The encoded protein can bind to heparin and may mediate heparin-sensitive cell adhesion. [provided by RefSeq, Oct 2014]", "soTermId": "SO:0001217", "name": "angio associated migratory cell protein", "basicGeneticEntity": { "synonyms": [ "angio-associated migratory cell protein" ], "secondaryIds": [ "RGD:1607091" ], "genomeLocations": [ { "strand": "-", "endPosition": 218270178, "chromosome": "2", "assembly": "GRCh38", "startPosition": 218264125 } ], "primaryId": "HGNC:18", "crossReferences": [ { "id": "ENSEMBL:ENSG00000127837" }, { "id": "NCBI_Gene:14" }, { "id": "PANTHER:PTHR19857" }, { "id": "UniProtKB:Q13685" }, { "pages": [ "gene/references" ], "id": "RGD:1607091" }, { "pages": [ "gene" ], "id": "HGNC:18" }, { "id": "RGD:1607091" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AANAT", "geneSynopsis": "The protein encoded by this gene belongs to the acetyltransferase superfamily. It is the penultimate enzyme in melatonin synthesis and controls the night/day rhythm in melatonin production in the vertebrate pineal gland. Melatonin is essential for the function of the circadian clock that influences activity and sleep. This enzyme is regulated by cAMP-dependent phosphorylation that promotes its interaction with 14-3-3 proteins and thus protects the enzyme against proteasomal degradation. This gene may contribute to numerous genetic diseases such as delayed sleep phase syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]", "soTermId": "SO:0001217", "name": "aralkylamine N-acetyltransferase", "basicGeneticEntity": { "synonyms": [ "AA-NAT", "DSPS", "SNAT", "arylalkylamine N-acetyltransferase", "arylalkylamine n - acetyltransferase", "serotonin N-acetyltransferase", "serotonin acetylase" ], "secondaryIds": [ "RGD:736736" ], "genomeLocations": [ { "strand": "+", "endPosition": 76470122, "chromosome": "17", "assembly": "GRCh38", "startPosition": 76452749 } ], "primaryId": "HGNC:19", "crossReferences": [ { "id": "ENSEMBL:ENSG00000129673" }, { "id": "NCBI_Gene:15" }, { "id": "PANTHER:PTHR10908" }, { "id": "UniProtKB:Q16613" }, { "pages": [ "gene/references" ], "id": "RGD:736736" }, { "pages": [ "gene" ], "id": "HGNC:19" }, { "id": "RGD:736736" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AAR2", "geneSynopsis": "This gene encodes the homolog of the yeast A1-alpha2 repressin protein that is involved in mRNA splicing. Alternately spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]", "soTermId": "SO:0001217", "name": "AAR2 splicing factor", "basicGeneticEntity": { "synonyms": [ "AAR2 splicing factor homolog", "C20orf4", "CGI-23", "DKFZp564N1363", "bA234K24.2", "hypothetical protein LOC25980", "protein AAR2 homolog", "uncharacterized protein C20orf4" ], "secondaryIds": [ "RGD:1322325" ], "genomeLocations": [ { "strand": "+", "endPosition": 36270918, "chromosome": "20", "assembly": "GRCh38", "startPosition": 36236131 } ], "primaryId": "HGNC:15886", "crossReferences": [ { "id": "ENSEMBL:ENSG00000131043" }, { "id": "NCBI_Gene:25980" }, { "id": "PANTHER:PTHR12689" }, { "id": "UniProtKB:Q9Y312" }, { "pages": [ "gene/references" ], "id": "RGD:1322325" }, { "pages": [ "gene" ], "id": "HGNC:15886" }, { "id": "RGD:1322325" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AARD", "geneSynopsis": "Predicted to act upstream of or within response to testosterone. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "alanine and arginine rich domain containing protein", "basicGeneticEntity": { "synonyms": [ "C8orf85", "alanine and arginine-rich domain-containing protein" ], "secondaryIds": [ "RGD:2311262" ], "genomeLocations": [ { "strand": "+", "endPosition": 116944487, "chromosome": "8", "assembly": "GRCh38", "startPosition": 116938207 } ], "primaryId": "HGNC:33842", "crossReferences": [ { "id": "ENSEMBL:ENSG00000205002" }, { "id": "NCBI_Gene:441376" }, { "id": "PANTHER:PTHR32289" }, { "id": "UniProtKB:Q4LEZ3" }, { "pages": [ "gene/references" ], "id": "RGD:2311262" }, { "pages": [ "gene" ], "id": "HGNC:33842" }, { "id": "RGD:2311262" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AARS1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "alanyl-tRNA synthetase 1", "basicGeneticEntity": { "synonyms": [ "AARS", "CMT2N", "DEE29", "EIEE29", "HDLS2", "TTD8", "alaRS", "alanine tRNA ligase 1, cytoplasmic", "alanine--tRNA ligase", "alanine--tRNA ligase, cytoplasmic", "alanyl-tRNA synthetase", "alanyl-tRNA synthetase, cytoplasmic", "renal carcinoma antigen NY-REN-42" ], "secondaryIds": [ "RGD:1312500" ], "genomeLocations": [ { "strand": "-", "endPosition": 70289707, "chromosome": "16", "assembly": "GRCh38", "startPosition": 70251983 } ], "primaryId": "HGNC:20", "crossReferences": [ { "id": "ENSEMBL:ENSG00000090861" }, { "id": "NCBI_Gene:16" }, { "id": "PANTHER:PTHR11777" }, { "id": "UniProtKB:P49588" }, { "pages": [ "gene/references" ], "id": "RGD:1312500" }, { "pages": [ "gene" ], "id": "HGNC:20" }, { "id": "RGD:1312500" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AARS1P1", "soTermId": "SO:0000336", "name": "alanyl-tRNA synthetase 1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AARSP1", "alanyl-tRNA synthetase pseudogene 1" ], "secondaryIds": [ "RGD:10400428" ], "genomeLocations": [ { "strand": "+", "endPosition": 132592536, "chromosome": "4", "assembly": "GRCh38", "startPosition": 132592084 } ], "primaryId": "HGNC:49894", "crossReferences": [ { "id": "ENSEMBL:ENSG00000249038" }, { "id": "NCBI_Gene:106480683" }, { "pages": [ "gene/references" ], "id": "RGD:10400428" }, { "pages": [ "gene" ], "id": "HGNC:49894" }, { "id": "RGD:10400428" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AARS2", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "alanyl-tRNA synthetase 2, mitochondrial", "basicGeneticEntity": { "synonyms": [ "AARSL", "COXPD8", "KIAA1270", "LKENP", "MT-ALARS", "MTALARS", "alaRS", "alanine tRNA ligase 2, mitochondrial (putative)", "alanine--tRNA ligase", "alanine--tRNA ligase, mitochondrial", "alanyl-tRNA synthetase 2, mitochondrial (putative)", "alanyl-tRNA synthetase like", "alanyl-tRNA synthetase, mitochondrial", "alanyl-tRNA synthetase-like", "bA444E17.1", "probable alanyl-tRNA synthetase, mitochondrial" ], "secondaryIds": [ "RGD:1321623" ], "genomeLocations": [ { "strand": "-", "endPosition": 44313347, "chromosome": "6", "assembly": "GRCh38", "startPosition": 44298726 } ], "primaryId": "HGNC:21022", "crossReferences": [ { "id": "ENSEMBL:ENSG00000124608" }, { "id": "NCBI_Gene:57505" }, { "id": "PANTHER:PTHR11777" }, { "id": "UniProtKB:Q5JTZ9" }, { "pages": [ "gene/references" ], "id": "RGD:1321623" }, { "pages": [ "gene" ], "id": "HGNC:21022" }, { "id": "RGD:1321623" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AARSD1", "geneSynopsis": "Predicted to enable Ser-tRNA(Ala) deacylase activity. Predicted to be involved in regulation of translational fidelity. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "alanyl-tRNA synthetase domain containing 1", "basicGeneticEntity": { "synonyms": [ "AlaXp", "MGC2744", "alanyl-tRNA editing protein Aarsd1", "alanyl-tRNA synthetase domain-containing protein 1" ], "secondaryIds": [ "RGD:1606776" ], "genomeLocations": [ { "strand": "-", "endPosition": 42964498, "chromosome": "17", "assembly": "GRCh38", "startPosition": 42950431 } ], "primaryId": "HGNC:28417", "crossReferences": [ { "id": "ENSEMBL:ENSG00000266967" }, { "id": "ENSEMBL:ENSG00000108825" }, { "id": "NCBI_Gene:80755" }, { "id": "PANTHER:PTHR43462" }, { "id": "UniProtKB:Q9BTE6" }, { "pages": [ "gene/references" ], "id": "RGD:1606776" }, { "pages": [ "gene" ], "id": "HGNC:28417" }, { "id": "RGD:1606776" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AARSD1P1", "soTermId": "SO:0000336", "name": "AARSD1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AL627389.1", "novel alanyl-tRNA synthetase protein pseudogene" ], "secondaryIds": [ "RGD:28912528" ], "genomeLocations": [ { "strand": "+", "endPosition": 74070896, "chromosome": "X", "assembly": "GRCh38", "startPosition": 74069257 } ], "primaryId": "HGNC:54994", "crossReferences": [ { "id": "ENSEMBL:ENSG00000234969" }, { "id": "NCBI_Gene:117981788" }, { "pages": [ "gene/references" ], "id": "RGD:28912528" }, { "pages": [ "gene" ], "id": "HGNC:54994" }, { "id": "RGD:28912528" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AASDH", "geneSynopsis": "This gene encodes a member of the non-ribosome peptide syntesase (NRPS) enzyme family. The encoded protein contains an AMP-binding domain, PP-binding (phosphopantetheine, or pantetheine 4'phosphate-binding) domain and the Pyrrolo-quinoline quinon (PQQ) binding domain. The protein is expressed in several adult tissues. [provided by RefSeq, Apr 2016]", "soTermId": "SO:0001217", "name": "aminoadipate-semialdehyde dehydrogenase", "basicGeneticEntity": { "synonyms": [ "2-aminoadipic 6-semialdehyde dehydrogenase", "ACSF4", "LYS2", "NRPS1098", "NRPS998", "acyl-CoA synthetase family member 4", "beta-alanine-activating enzyme", "non-ribosomal peptide synthetase 1098", "non-ribosomal peptide synthetase 998" ], "secondaryIds": [ "RGD:1606160" ], "genomeLocations": [ { "strand": "-", "endPosition": 56387523, "chromosome": "4", "assembly": "GRCh38", "startPosition": 56337994 } ], "primaryId": "HGNC:23993", "crossReferences": [ { "id": "ENSEMBL:ENSG00000157426" }, { "id": "NCBI_Gene:132949" }, { "id": "PANTHER:PTHR44394" }, { "id": "UniProtKB:Q4L235" }, { "pages": [ "gene/references" ], "id": "RGD:1606160" }, { "pages": [ "gene" ], "id": "HGNC:23993" }, { "id": "RGD:1606160" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AASDH-DT", "soTermId": "SO:0001263", "name": "AASDH divergent transcript", "basicGeneticEntity": { "secondaryIds": [ "RGD:629021556" ], "primaryId": "HGNC:58795", "crossReferences": [ { "id": "NCBI_Gene:144093380" }, { "pages": [ "gene/references" ], "id": "RGD:629021556" }, { "pages": [ "gene" ], "id": "HGNC:58795" }, { "id": "RGD:629021556" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AASDHPPT", "geneSynopsis": "The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has been suggested that defects in the human gene result in pipecolic acidemia. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase", "basicGeneticEntity": { "synonyms": [ "4'-phosphopantetheinyl transferase", "AASD-PPT", "ACPS", "CGI-80", "DKFZp566E2346", "L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase", "LYS2", "LYS5", "LYS5 ortholog", "alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase", "holo ACP synthase", "holo-[acyl-carrier-protein] synthase" ], "secondaryIds": [ "RGD:1322778" ], "genomeLocations": [ { "strand": "+", "endPosition": 106098708, "chromosome": "11", "assembly": "GRCh38", "startPosition": 106075501 } ], "primaryId": "HGNC:14235", "crossReferences": [ { "id": "ENSEMBL:ENSG00000149313" }, { "id": "NCBI_Gene:60496" }, { "id": "PANTHER:PTHR12215" }, { "id": "UniProtKB:Q9NRN7" }, { "pages": [ "gene/references" ], "id": "RGD:1322778" }, { "pages": [ "gene" ], "id": "HGNC:14235" }, { "id": "RGD:1322778" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AASDHPPT-AS1", "soTermId": "SO:0001263", "name": "AASDHPPT antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:597621598" ], "primaryId": "HGNC:58262", "crossReferences": [ { "id": "NCBI_Gene:139355254" }, { "pages": [ "gene/references" ], "id": "RGD:597621598" }, { "pages": [ "gene" ], "id": "HGNC:58262" }, { "id": "RGD:597621598" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AASS", "geneSynopsis": "This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "aminoadipate-semialdehyde synthase", "basicGeneticEntity": { "synonyms": [ "LKR/SDH", "LKRSDH", "LORSDH", "alpha-aminoadipate semialdehyde synthase", "alpha-aminoadipic semialdehyde synthase, mitochondrial", "aminoadipic semialdehyde synthase", "lysine-2-oxoglutarate reductase", "lysine-ketoglutarate reductase /saccharopine dehydrogenase", "saccharopine dehydrogenase (NAD(+), L-glutamate-forming)", "saccharopine dehydrogenase (NADP(+), L-lysine-forming)" ], "secondaryIds": [ "RGD:1321929" ], "genomeLocations": [ { "strand": "-", "endPosition": 122144489, "chromosome": "7", "assembly": "GRCh38", "startPosition": 122064583 } ], "primaryId": "HGNC:17366", "crossReferences": [ { "id": "ENSEMBL:ENSG00000008311" }, { "id": "NCBI_Gene:10157" }, { "id": "PANTHER:PTHR11133" }, { "id": "UniProtKB:Q9UDR5" }, { "pages": [ "gene/references" ], "id": "RGD:1321929" }, { "pages": [ "gene" ], "id": "HGNC:17366" }, { "id": "RGD:1321929" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AATBC", "geneSynopsis": "INTERACTS WITH 4,4'-sulfonyldiphenol; avobenzone; benzo[a]pyrene", "soTermId": "SO:0001263", "name": "apoptosis associated transcript in bladder cancer", "basicGeneticEntity": { "synonyms": [ "MGC133248" ], "secondaryIds": [ "RGD:2303841" ], "genomeLocations": [ { "strand": "-", "endPosition": 43812567, "chromosome": "21", "assembly": "GRCh38", "startPosition": 43805758 } ], "primaryId": "HGNC:51526", "crossReferences": [ { "id": "ENSEMBL:ENSG00000215458" }, { "id": "NCBI_Gene:284837" }, { "id": "UniProtKB:Q6ZR03" }, { "pages": [ "gene/references" ], "id": "RGD:2303841" }, { "pages": [ "gene" ], "id": "HGNC:51526" }, { "id": "RGD:2303841" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AATF", "geneSynopsis": "The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "apoptosis antagonizing transcription factor", "basicGeneticEntity": { "synonyms": [ "BFR2", "CHE-1", "CHE1", "DED", "apoptosis-antagonizing transcription factor", "rb-binding protein Che-1" ], "secondaryIds": [ "RGD:734398" ], "genomeLocations": [ { "strand": "+", "endPosition": 37056874, "chromosome": "17", "assembly": "GRCh38", "startPosition": 36948925 } ], "primaryId": "HGNC:19235", "crossReferences": [ { "id": "ENSEMBL:ENSG00000275700" }, { "id": "ENSEMBL:ENSG00000276072" }, { "id": "NCBI_Gene:26574" }, { "id": "PANTHER:PTHR15565" }, { "id": "UniProtKB:Q9NY61" }, { "pages": [ "gene/references" ], "id": "RGD:734398" }, { "pages": [ "gene" ], "id": "HGNC:19235" }, { "id": "RGD:734398" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AATK", "geneSynopsis": "The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]", "soTermId": "SO:0001217", "name": "apoptosis associated tyrosine kinase", "basicGeneticEntity": { "synonyms": [ "AATYK", "AATYK1", "CDK5-binding protein", "KIAA0641", "LMR1", "LMTK1", "PPP1R77", "apoptosis-associated tyrosine kinase", "brain apoptosis-associated tyrosine kinase", "lemur tyrosine kinase 1", "p35-binding protein", "p35BP", "serine/threonine-protein kinase LMTK1" ], "secondaryIds": [ "RGD:1317702" ], "genomeLocations": [ { "strand": "-", "endPosition": 81166223, "chromosome": "17", "assembly": "GRCh38", "startPosition": 81110487 } ], "primaryId": "HGNC:21", "crossReferences": [ { "id": "ENSEMBL:ENSG00000181409" }, { "id": "NCBI_Gene:9625" }, { "id": "PANTHER:PTHR24417" }, { "id": "UniProtKB:Q6ZMQ8" }, { "pages": [ "gene/references" ], "id": "RGD:1317702" }, { "pages": [ "gene" ], "id": "HGNC:21" }, { "id": "RGD:1317702" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AAVS1", "soTermId": "SO:0000704", "name": "adeno-associated virus integration site 1", "basicGeneticEntity": { "synonyms": [ "AAV" ], "secondaryIds": [ "RGD:1344732" ], "primaryId": "HGNC:22", "crossReferences": [ { "id": "NCBI_Gene:17" }, { "pages": [ "gene/references" ], "id": "RGD:1344732" }, { "pages": [ "gene" ], "id": "HGNC:22" }, { "id": "RGD:1344732" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABAT", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "4-aminobutyrate aminotransferase", "basicGeneticEntity": { "synonyms": [ "(S)-3-amino-2-methylpropionate transaminase", "4-aminobutyrate aminotransferase, mitochondrial", "4-aminobutyrate transaminase", "FLJ17813", "FLJ30272", "GABA aminotransferase", "GABA transaminase", "GABA transferase", "GABA-AT", "GABAT", "NPD009", "gamma-amino-N-butyrate transaminase", "gamma-aminobutyrate aminotransferase", "hCG1984265" ], "secondaryIds": [ "RGD:732065" ], "genomeLocations": [ { "strand": "+", "endPosition": 8784575, "chromosome": "16", "assembly": "GRCh38", "startPosition": 8674596 } ], "primaryId": "HGNC:23", "crossReferences": [ { "id": "ENSEMBL:ENSG00000183044" }, { "id": "NCBI_Gene:18" }, { "id": "PANTHER:PTHR43206" }, { "id": "UniProtKB:P80404" }, { "pages": [ "gene/references" ], "id": "RGD:732065" }, { "pages": [ "gene" ], "id": "HGNC:23" }, { "id": "RGD:732065" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCA1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily A member 1", "basicGeneticEntity": { "synonyms": [ "ABC-1", "ABC1", "ATP-binding cassette sub-family A member 1", "ATP-binding cassette transporter 1", "ATP-binding cassette transporter A1", "ATP-binding cassette, sub-family A (ABC1), member 1", "CERP", "FLJ14958", "HDLCQTL13", "HDLDT1", "HPALP1", "MGC164864", "MGC165011", "TGD", "cholesterol efflux regulatory protein", "membrane-bound", "phospholipid-transporting ATPase ABCA1" ], "secondaryIds": [ "RGD:736157" ], "genomeLocations": [ { "strand": "-", "endPosition": 104928155, "chromosome": "9", "assembly": "GRCh38", "startPosition": 104781006 } ], "primaryId": "HGNC:29", "crossReferences": [ { "id": "ENSEMBL:ENSG00000165029" }, { "id": "NCBI_Gene:19" }, { "id": "PANTHER:PTHR19229" }, { "id": "UniProtKB:O95477" }, { "pages": [ "gene/references" ], "id": "RGD:736157" }, { "pages": [ "gene" ], "id": "HGNC:29" }, { "id": "RGD:736157" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCA10", "geneSynopsis": "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. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily A member 10", "basicGeneticEntity": { "synonyms": [ "ATP-binding cassette A10", "ATP-binding cassette sub-family A member 10", "ATP-binding cassette, sub-family A (ABC1), member 10", "EST698739" ], "secondaryIds": [ "RGD:1347313" ], "genomeLocations": [ { "strand": "-", "endPosition": 69244848, "chromosome": "17", "assembly": "GRCh38", "startPosition": 69147214 } ], "primaryId": "HGNC:30", "crossReferences": [ { "id": "ENSEMBL:ENSG00000154263" }, { "id": "NCBI_Gene:10349" }, { "id": "PANTHER:PTHR19229" }, { "id": "UniProtKB:Q8WWZ4" }, { "pages": [ "gene/references" ], "id": "RGD:1347313" }, { "pages": [ "gene" ], "id": "HGNC:30" }, { "id": "RGD:1347313" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCA11P", "geneSynopsis": "INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; 4,4'-sulfonyldiphenol; antirheumatic drug", "soTermId": "SO:0000336", "name": "ATP binding cassette subfamily A member 11, pseudogene", "basicGeneticEntity": { "synonyms": [ "ABCA11", "EST1133530", "FLJ14297", "FLJ57767", "MGC120309", "MGC120310", "MGC120312", "MGC132744", "MGC138274", "atp-binding cassette, sub-family a (abc1), member 11" ], "secondaryIds": [ "RGD:1346566" ], "genomeLocations": [ { "strand": "-", "endPosition": 474209, "chromosome": "4", "assembly": "GRCh38", "startPosition": 425435 } ], "primaryId": "HGNC:31", "crossReferences": [ { "id": "ENSEMBL:ENSG00000293360" }, { "id": "ENSEMBL:ENSG00000251595" }, { "id": "NCBI_Gene:79963" }, { "pages": [ "gene/references" ], "id": "RGD:1346566" }, { "pages": [ "gene" ], "id": "HGNC:31" }, { "id": "RGD:1346566" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCA12", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily A member 12", "basicGeneticEntity": { "synonyms": [ "ARCI4A", "ARCI4B", "ATP-binding cassette sub-family A member 12", "ATP-binding cassette transporter 12", "ATP-binding cassette, sub-family A (ABC1), member 12", "DKFZp434G232", "FLJ41584", "ICR2B", "ICR5", "LI2", "glucosylceramide transporter ABCA12", "ichthyosis congenita II, lamellar ichthyosis B", "ichthyosis congenita V, Sjogren-Larsson-like" ], "secondaryIds": [ "RGD:1312110" ], "genomeLocations": [ { "strand": "-", "endPosition": 215138626, "chromosome": "2", "assembly": "GRCh38", "startPosition": 214931542 } ], "primaryId": "HGNC:14637", "crossReferences": [ { "id": "ENSEMBL:ENSG00000144452" }, { "id": "NCBI_Gene:26154" }, { "id": "PANTHER:PTHR19229" }, { "id": "UniProtKB:Q86UK0" }, { "pages": [ "gene/references" ], "id": "RGD:1312110" }, { "pages": [ "gene" ], "id": "HGNC:14637" }, { "id": "RGD:1312110" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCA13", "geneSynopsis": "In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily A member 13", "basicGeneticEntity": { "synonyms": [ "ATP binding cassette transporter A13", "ATP-binding cassette sub-family A member 13", "ATP-binding cassette sub-family A member 13 variant 2", "ATP-binding cassette sub-family A member 13 variant 3", "ATP-binding cassette, sub-family A (ABC1), member 13", "DKFZp313D2411", "FLJ16398", "FLJ33876", "FLJ33951" ], "secondaryIds": [ "RGD:1352197" ], "genomeLocations": [ { "strand": "+", "endPosition": 48647497, "chromosome": "7", "assembly": "GRCh38", "startPosition": 48171458 } ], "primaryId": "HGNC:14638", "crossReferences": [ { "id": "ENSEMBL:ENSG00000179869" }, { "id": "NCBI_Gene:154664" }, { "id": "PANTHER:PTHR19229" }, { "id": "UniProtKB:Q86UQ4" }, { "pages": [ "gene/references" ], "id": "RGD:1352197" }, { "pages": [ "gene" ], "id": "HGNC:14638" }, { "id": "RGD:1352197" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCA15P", "geneSynopsis": "Predicted to act upstream of or within hematopoietic progenitor cell differentiation. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0000336", "name": "ATP binding cassette subfamily A member 15, pseudogene", "basicGeneticEntity": { "synonyms": [ "CRYM antisense RNA 1", "CRYM-AS1", "FLJ41766", "NCRNA00169" ], "secondaryIds": [ "RGD:2303315" ], "genomeLocations": [ { "strand": "+", "endPosition": 21339037, "chromosome": "16", "assembly": "GRCh38", "startPosition": 21300849 } ], "primaryId": "HGNC:34405", "crossReferences": [ { "id": "ENSEMBL:ENSG00000189149" }, { "id": "ENSEMBL:ENSG00000293411" }, { "id": "NCBI_Gene:400508" }, { "pages": [ "gene/references" ], "id": "RGD:2303315" }, { "pages": [ "gene" ], "id": "HGNC:34405" }, { "id": "RGD:2303315" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCA17P", "geneSynopsis": "Predicted to act upstream of or within neutral lipid metabolic process. Predicted to be located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0000336", "name": "ATP binding cassette subfamily A member 17, pseudogene", "basicGeneticEntity": { "synonyms": [ "ABCA17", "FLJ37881" ], "secondaryIds": [ "RGD:2298742" ], "genomeLocations": [ { "strand": "+", "endPosition": 2426699, "chromosome": "16", "assembly": "GRCh38", "startPosition": 2339109 } ], "primaryId": "HGNC:32972", "crossReferences": [ { "id": "ENSEMBL:ENSG00000293423" }, { "id": "ENSEMBL:ENSG00000238098" }, { "id": "NCBI_Gene:650655" }, { "pages": [ "gene/references" ], "id": "RGD:2298742" }, { "pages": [ "gene" ], "id": "HGNC:32972" }, { "id": "RGD:2298742" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCA2", "geneSynopsis": "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. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily A member 2", "basicGeneticEntity": { "synonyms": [ "ABC2", "ATP-binding cassette 2", "ATP-binding cassette sub-family A member 2", "ATP-binding cassette transporter 2", "ATP-binding cassette, sub-family A (ABC1), member 2", "ATP-binding cassette, sub-family A, member 2", "IDPOGSA", "MGC129761" ], "secondaryIds": [ "RGD:732200" ], "genomeLocations": [ { "strand": "-", "endPosition": 137028922, "chromosome": "9", "assembly": "GRCh38", "startPosition": 137007234 } ], "primaryId": "HGNC:32", "crossReferences": [ { "id": "ENSEMBL:ENSG00000107331" }, { "id": "NCBI_Gene:20" }, { "id": "PANTHER:PTHR19229" }, { "id": "UniProtKB:Q9BZC7" }, { "pages": [ "gene/references" ], "id": "RGD:732200" }, { "pages": [ "gene" ], "id": "HGNC:32" }, { "id": "RGD:732200" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCA3", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily A member 3", "basicGeneticEntity": { "synonyms": [ "ABC transporter 3", "ABC-C", "ABC-C transporter", "ABC3", "ATP-binding cassette sub-family A member 3", "ATP-binding cassette transporter 3", "ATP-binding cassette, sub-family A (ABC1), member 3", "EST111653", "LBM180", "MGC166979", "MGC72201", "SMDP3", "phospholipid-transporting ATPase ABCA3", "xenobiotic-transporting ATPase ABCA3" ], "secondaryIds": [ "RGD:1316207" ], "genomeLocations": [ { "strand": "-", "endPosition": 2340749, "chromosome": "16", "assembly": "GRCh38", "startPosition": 2275878 } ], "primaryId": "HGNC:33", "crossReferences": [ { "id": "ENSEMBL:ENSG00000167972" }, { "id": "NCBI_Gene:21" }, { "id": "PANTHER:PTHR19229" }, { "id": "UniProtKB:Q99758" }, { "pages": [ "gene/references" ], "id": "RGD:1316207" }, { "pages": [ "gene" ], "id": "HGNC:33" }, { "id": "RGD:1316207" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCA3P1", "soTermId": "SO:0000336", "name": "ABCA3 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ATP binding cassette subfamily A member 3 pseudogene", "LOC342293" ], "secondaryIds": [ "RGD:38633623" ], "genomeLocations": [ { "strand": "+", "endPosition": 21940466, "chromosome": "16", "assembly": "GRCh38", "startPosition": 21938865 } ], "primaryId": "HGNC:55707", "crossReferences": [ { "id": "NCBI_Gene:342293" }, { "pages": [ "gene/references" ], "id": "RGD:38633623" }, { "pages": [ "gene" ], "id": "HGNC:55707" }, { "id": "RGD:38633623" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCA4", "geneSynopsis": "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. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, and the gene product mediates transport of an essental molecule, all-trans-retinal aldehyde (atRAL), across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Sep 2019]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily A member 4", "basicGeneticEntity": { "synonyms": [ "ABC10", "ABCR", "ARMD2", "ATP binding cassette transporter", "ATP-binding cassette sub-family A member 4", "ATP-binding cassette transporter, retinal-specific", "ATP-binding cassette, sub-family A (ABC1), member 4", "ATP-binding transporter, retina-specific", "CORD3", "DKFZp781N1972", "FFM", "FLJ17534", "RIM ABC transporter", "RIM protein", "RIM proteinv", "RMP", "RP19", "STGD", "STGD1", "photoreceptor rim protein", "retina-specific ABC transporter", "retinal-specific ATP-binding cassette transporter", "retinal-specific phospholipid-transporting ATPase ABCA4", "stargardt disease protein" ], "secondaryIds": [ "RGD:1319792" ], "genomeLocations": [ { "strand": "-", "endPosition": 94121148, "chromosome": "1", "assembly": "GRCh38", "startPosition": 93992834 } ], "primaryId": "HGNC:34", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198691" }, { "id": "NCBI_Gene:24" }, { "id": "PANTHER:PTHR19229" }, { "id": "UniProtKB:P78363" }, { "pages": [ "gene/references" ], "id": "RGD:1319792" }, { "pages": [ "gene" ], "id": "HGNC:34" }, { "id": "RGD:1319792" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCA5", "geneSynopsis": "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. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily A member 5", "basicGeneticEntity": { "synonyms": [ "ABC13", "ATP-binding cassette A5", "ATP-binding cassette sub-family A member 5", "ATP-binding cassette, sub-family A (ABC1), member 5", "DEL17q24", "DKFZp451F117", "DKFZp779N2435", "EST90625", "FLJ16381", "HTC3", "HTGH", "cholesterol transporter ABCA5" ], "secondaryIds": [ "RGD:1300038" ], "genomeLocations": [ { "strand": "-", "endPosition": 69327244, "chromosome": "17", "assembly": "GRCh38", "startPosition": 69244311 } ], "primaryId": "HGNC:35", "crossReferences": [ { "id": "ENSEMBL:ENSG00000154265" }, { "id": "NCBI_Gene:23461" }, { "id": "PANTHER:PTHR19229" }, { "id": "UniProtKB:Q8WWZ7" }, { "pages": [ "gene/references" ], "id": "RGD:1300038" }, { "pages": [ "gene" ], "id": "HGNC:35" }, { "id": "RGD:1300038" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCA6", "geneSynopsis": "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. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily A member 6", "basicGeneticEntity": { "synonyms": [ "ABC transporter ABCA6", "ATP-binding cassette A6", "ATP-binding cassette sub-family A member 6", "ATP-binding cassette, sub-family A (ABC1), member 6", "EST155051", "FLJ43498" ], "secondaryIds": [ "RGD:1319094" ], "genomeLocations": [ { "strand": "-", "endPosition": 69142031, "chromosome": "17", "assembly": "GRCh38", "startPosition": 69074255 } ], "primaryId": "HGNC:36", "crossReferences": [ { "id": "ENSEMBL:ENSG00000154262" }, { "id": "NCBI_Gene:23460" }, { "id": "PANTHER:PTHR19229" }, { "id": "UniProtKB:Q8N139" }, { "pages": [ "gene/references" ], "id": "RGD:1319094" }, { "pages": [ "gene" ], "id": "HGNC:36" }, { "id": "RGD:1319094" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCA7", "geneSynopsis": "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 ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily A member 7", "basicGeneticEntity": { "synonyms": [ "ABCA-SSN", "ABCX", "AD9", "ATP-binding cassette sub-family A member 7", "ATP-binding cassette, sub-family A (ABC1), member 7", "FLJ40025", "autoantigen SS-N", "macrophage ABC transporter", "phospholipid-transporting ATPase ABCA7" ], "secondaryIds": [ "RGD:1601775" ], "genomeLocations": [ { "strand": "+", "endPosition": 1065572, "chromosome": "19", "assembly": "GRCh38", "startPosition": 1039997 } ], "primaryId": "HGNC:37", "crossReferences": [ { "id": "ENSEMBL:ENSG00000064687" }, { "id": "NCBI_Gene:10347" }, { "id": "PANTHER:PTHR19229" }, { "id": "UniProtKB:Q8IZY2" }, { "pages": [ "gene/references" ], "id": "RGD:1601775" }, { "pages": [ "gene" ], "id": "HGNC:37" }, { "id": "RGD:1601775" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCA8", "geneSynopsis": "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 encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily A member 8", "basicGeneticEntity": { "synonyms": [ "ABC-type organic anion transporter ABCA8", "ATP-binding cassette sub-family A member 8", "ATP-binding cassette, sub-family A (ABC1), member 8", "KIAA0822", "MGC163152" ], "secondaryIds": [ "RGD:1316041" ], "genomeLocations": [ { "strand": "-", "endPosition": 68955470, "chromosome": "17", "assembly": "GRCh38", "startPosition": 68866052 } ], "primaryId": "HGNC:38", "crossReferences": [ { "id": "ENSEMBL:ENSG00000141338" }, { "id": "NCBI_Gene:10351" }, { "id": "PANTHER:PTHR19229" }, { "id": "UniProtKB:O94911" }, { "pages": [ "gene/references" ], "id": "RGD:1316041" }, { "pages": [ "gene" ], "id": "HGNC:38" }, { "id": "RGD:1316041" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCA9", "geneSynopsis": "This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. 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 gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily A member 9", "basicGeneticEntity": { "synonyms": [ "ATP-binding cassette A9", "ATP-binding cassette sub-family A member 9", "ATP-binding cassette, sub-family A (ABC1), member 9", "DKFZp686F2450", "EST640918", "MGC75415" ], "secondaryIds": [ "RGD:1314254" ], "genomeLocations": [ { "strand": "-", "endPosition": 69078977, "chromosome": "17", "assembly": "GRCh38", "startPosition": 68974488 } ], "primaryId": "HGNC:39", "crossReferences": [ { "id": "ENSEMBL:ENSG00000154258" }, { "id": "NCBI_Gene:10350" }, { "id": "PANTHER:PTHR19229" }, { "id": "UniProtKB:Q8IUA7" }, { "pages": [ "gene/references" ], "id": "RGD:1314254" }, { "pages": [ "gene" ], "id": "HGNC:39" }, { "id": "RGD:1314254" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCA9-AS1", "soTermId": "SO:0001263", "name": "ABCA9 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:9588879" ], "genomeLocations": [ { "strand": "+", "endPosition": 69042784, "chromosome": "17", "assembly": "GRCh38", "startPosition": 68944531 } ], "primaryId": "HGNC:39983", "crossReferences": [ { "id": "ENSEMBL:ENSG00000231749" }, { "id": "NCBI_Gene:104355297" }, { "pages": [ "gene/references" ], "id": "RGD:9588879" }, { "pages": [ "gene" ], "id": "HGNC:39983" }, { "id": "RGD:9588879" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCB1", "geneSynopsis": "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 an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. Mutations in this gene are associated with colchicine resistance and Inflammatory bowel disease 13. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Feb 2017]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily B member 1", "basicGeneticEntity": { "synonyms": [ "ABC20", "ATP-binding cassette sub-family B member 1", "ATP-binding cassette, sub-family B (MDR/TAP), member 1", "ATP-binding cassette, subfamily B, member 1", "ATP-dependent translocase ABCB1", "CD243", "CLCS", "ENPAT", "GP170", "MDR1", "MGC163296", "P glycoprotein", "P-GP", "P-glycoprotein 1", "PGY1", "colchicin sensitivity", "doxorubicin resistance", "multidrug resistance protein 1", "p-170", "phospholipid transporter ABCB1" ], "secondaryIds": [ "RGD:730823" ], "genomeLocations": [ { "strand": "-", "endPosition": 87713375, "chromosome": "7", "assembly": "GRCh38", "startPosition": 87503017 } ], "primaryId": "HGNC:40", "crossReferences": [ { "id": "ENSEMBL:ENSG00000085563" }, { "id": "NCBI_Gene:5243" }, { "id": "PANTHER:PTHR43394" }, { "id": "UniProtKB:P08183" }, { "pages": [ "gene/references" ], "id": "RGD:730823" }, { "pages": [ "gene" ], "id": "HGNC:40" }, { "id": "RGD:730823" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCB10", "geneSynopsis": "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 function of this mitochondrial protein is unknown. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily B member 10", "basicGeneticEntity": { "synonyms": [ "ABC transporter 10 protein", "ATP-binding cassette sub-family B member 10, mitochondrial", "ATP-binding cassette transporter 10", "ATP-binding cassette, sub-family B (MDR/TAP), member 10", "EST20237", "M-ABC2", "MTABC2", "mitochondrial ATP-binding cassette 2" ], "secondaryIds": [ "RGD:1322567" ], "genomeLocations": [ { "strand": "-", "endPosition": 229558957, "chromosome": "1", "assembly": "GRCh38", "startPosition": 229516582 } ], "primaryId": "HGNC:41", "crossReferences": [ { "id": "ENSEMBL:ENSG00000135776" }, { "id": "NCBI_Gene:23456" }, { "id": "PANTHER:PTHR43394" }, { "id": "UniProtKB:Q9NRK6" }, { "pages": [ "gene/references" ], "id": "RGD:1322567" }, { "pages": [ "gene" ], "id": "HGNC:41" }, { "id": "RGD:1322567" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCB10P1", "soTermId": "SO:0000336", "name": "ABCB10 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ABCB10P", "ABCB10P2", "ATP binding cassette subfamily B member 10 pseudogene 1", "M-ABC2", "MABC2" ], "secondaryIds": [ "RGD:1345233" ], "genomeLocations": [ { "strand": "+", "endPosition": 23183659, "chromosome": "15", "assembly": "GRCh38", "startPosition": 23179869 } ], "primaryId": "HGNC:14114", "crossReferences": [ { "id": "ENSEMBL:ENSG00000274099" }, { "id": "NCBI_Gene:56476" }, { "pages": [ "gene/references" ], "id": "RGD:1345233" }, { "pages": [ "gene" ], "id": "HGNC:14114" }, { "id": "RGD:1345233" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCB10P3", "soTermId": "SO:0000336", "name": "ABCB10 pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ATP binding cassette subfamily B member 10 pseudogene 3" ], "secondaryIds": [ "RGD:3516544" ], "genomeLocations": [ { "strand": "+", "endPosition": 28405228, "chromosome": "15", "assembly": "GRCh38", "startPosition": 28402865 } ], "primaryId": "HGNC:31129", "crossReferences": [ { "id": "ENSEMBL:ENSG00000261524" }, { "id": "NCBI_Gene:728248" }, { "pages": [ "gene/references" ], "id": "RGD:3516544" }, { "pages": [ "gene" ], "id": "HGNC:31129" }, { "id": "RGD:3516544" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCB10P4", "geneSynopsis": "INTERACTS WITH copper atom; copper(0); resveratrol", "soTermId": "SO:0000336", "name": "ABCB10 pseudogene 4", "basicGeneticEntity": { "synonyms": [ "ATP binding cassette subfamily B member 10 pseudogene 4" ], "secondaryIds": [ "RGD:3418289" ], "genomeLocations": [ { "strand": "-", "endPosition": 28508808, "chromosome": "15", "assembly": "GRCh38", "startPosition": 28506430 } ], "primaryId": "HGNC:31130", "crossReferences": [ { "id": "ENSEMBL:ENSG00000260053" }, { "id": "NCBI_Gene:100132289" }, { "pages": [ "gene/references" ], "id": "RGD:3418289" }, { "pages": [ "gene" ], "id": "HGNC:31130" }, { "id": "RGD:3418289" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCB11", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily B member 11", "basicGeneticEntity": { "synonyms": [ "ABC member 16, MDR/TAP subfamily", "ABC16", "ATP-binding cassette sub-family B member 11", "ATP-binding cassette, sub-family B (MDR/TAP), member 11", "BRIC2", "BSEP", "PFIC-2", "PFIC2", "PGY4", "SPGP", "bile salt export pump", "progressive familial intrahepatic cholestasis 2", "sister p-glycoprotein" ], "secondaryIds": [ "RGD:730944" ], "genomeLocations": [ { "strand": "-", "endPosition": 169031324, "chromosome": "2", "assembly": "GRCh38", "startPosition": 168915390 } ], "primaryId": "HGNC:42", "crossReferences": [ { "id": "ENSEMBL:ENSG00000073734" }, { "id": "NCBI_Gene:8647" }, { "id": "PANTHER:PTHR43394" }, { "id": "UniProtKB:O95342" }, { "pages": [ "gene/references" ], "id": "RGD:730944" }, { "pages": [ "gene" ], "id": "HGNC:42" }, { "id": "RGD:730944" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCB4", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily B member 4", "basicGeneticEntity": { "synonyms": [ "ABC21", "ATP-binding cassette sub-family B member 4", "ATP-binding cassette, sub-family B (MDR/TAP), member 4", "GBD1", "ICP3", "MDR2", "MDR2/3", "MDR3", "P glycoprotein 3/multiple drug resistance 3", "P-glycoprotein 3", "P-glycoprotein-3/multiple drug resistance-3", "PFIC-3", "PGY3", "multidrug resistance protein 3", "multiple drug resistance 3", "phosphatidylcholine translocator ABCB4" ], "secondaryIds": [ "RGD:736946" ], "genomeLocations": [ { "strand": "-", "endPosition": 87480435, "chromosome": "7", "assembly": "GRCh38", "startPosition": 87365896 } ], "primaryId": "HGNC:45", "crossReferences": [ { "id": "ENSEMBL:ENSG00000005471" }, { "id": "NCBI_Gene:5244" }, { "id": "PANTHER:PTHR43394" }, { "id": "UniProtKB:P21439" }, { "pages": [ "gene/references" ], "id": "RGD:736946" }, { "pages": [ "gene" ], "id": "HGNC:45" }, { "id": "RGD:736946" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCB5", "geneSynopsis": "ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily B member 5", "basicGeneticEntity": { "synonyms": [ "ABCB5 P-gp", "ABCB5alpha", "ABCB5beta", "ATP-binding cassette protein", "ATP-binding cassette sub-family B member 5", "ATP-binding cassette, sub-family B (MDR/TAP), member 5", "EST422562", "P-glycoprotein ABCB5" ], "secondaryIds": [ "RGD:1351002" ], "genomeLocations": [ { "strand": "+", "endPosition": 20777038, "chromosome": "7", "assembly": "GRCh38", "startPosition": 20615667 } ], "primaryId": "HGNC:46", "crossReferences": [ { "id": "ENSEMBL:ENSG00000004846" }, { "id": "NCBI_Gene:340273" }, { "id": "PANTHER:PTHR43394" }, { "id": "UniProtKB:Q2M3G0" }, { "pages": [ "gene/references" ], "id": "RGD:1351002" }, { "pages": [ "gene" ], "id": "HGNC:46" }, { "id": "RGD:1351002" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCB6", "geneSynopsis": "This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in porphyrin transport. This gene is the molecular basis of the Langereis (Lan) blood group antigen and mutations in this gene underlie familial pseudohyperkalemia and dyschromatosis universalis hereditaria. [provided by RefSeq, Mar 2017]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily B member 6 (LAN blood group)", "basicGeneticEntity": { "synonyms": [ "ABC", "ABC-type heme transporter ABCB6", "ABC14", "ATP binding cassette subfamily B member 6 (Langereis blood group)", "ATP-binding cassette half-transporter", "ATP-binding cassette sub-family B member 6", "ATP-binding cassette sub-family B member 6, mitochondrial", "ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)", "DUH3", "EST45597", "FLJ22414", "LAN", "MCOPCB7", "MTABC3", "P-glycoprotein-related protein", "PRP", "PSHK2", "mitochondrial ABC transporter 3", "mt-ABC transporter 3", "truncated ATP binding cassette subfamily b member 6", "ubiquitously-expressed mammalian ABC half transporter", "umat" ], "secondaryIds": [ "RGD:731735" ], "genomeLocations": [ { "strand": "-", "endPosition": 219219012, "chromosome": "2", "assembly": "GRCh38", "startPosition": 219209766 } ], "primaryId": "HGNC:47", "crossReferences": [ { "id": "ENSEMBL:ENSG00000115657" }, { "id": "NCBI_Gene:10058" }, { "id": "PANTHER:PTHR24221" }, { "id": "UniProtKB:Q9NP58" }, { "pages": [ "gene/references" ], "id": "RGD:731735" }, { "pages": [ "gene" ], "id": "HGNC:47" }, { "id": "RGD:731735" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCB7", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily B member 7", "basicGeneticEntity": { "synonyms": [ "ABC transporter 7 protein", "ABC7", "ASAT", "ATP-binding cassette 7", "ATP-binding cassette sub-family B member 7", "ATP-binding cassette sub-family B member 7, mitochondrial", "ATP-binding cassette transporter 7", "ATP-binding cassette, sub-family B (MDR/TAP), member 7", "Atm1p", "EST140535", "iron-sulfur clusters transporter ABCB7, mitochondrial" ], "secondaryIds": [ "RGD:1351480" ], "genomeLocations": [ { "strand": "-", "endPosition": 75156732, "chromosome": "X", "assembly": "GRCh38", "startPosition": 75051048 } ], "primaryId": "HGNC:48", "crossReferences": [ { "id": "ENSEMBL:ENSG00000131269" }, { "id": "NCBI_Gene:22" }, { "id": "PANTHER:PTHR24221" }, { "id": "UniProtKB:O75027" }, { "pages": [ "gene/references" ], "id": "RGD:1351480" }, { "pages": [ "gene" ], "id": "HGNC:48" }, { "id": "RGD:1351480" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCB8", "geneSynopsis": "This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily B member 8", "basicGeneticEntity": { "synonyms": [ "ATP-binding cassette sub-family B member 8, mitochondrial", "ATP-binding cassette, sub-family B (MDR/TAP), member 8", "EST328128", "M-ABC1", "MABC1", "MITOSUR", "mitochondrial ABC protein", "mitochondrial ATP-binding cassette 1", "mitochondrial potassium channel ATP-binding subunit", "mitochondrial sulfonylurea-receptor" ], "secondaryIds": [ "RGD:1316973" ], "genomeLocations": [ { "strand": "+", "endPosition": 151047782, "chromosome": "7", "assembly": "GRCh38", "startPosition": 151028422 } ], "primaryId": "HGNC:49", "crossReferences": [ { "id": "ENSEMBL:ENSG00000197150" }, { "id": "NCBI_Gene:11194" }, { "id": "PANTHER:PTHR43394" }, { "id": "UniProtKB:Q9NUT2" }, { "pages": [ "gene/references" ], "id": "RGD:1316973" }, { "pages": [ "gene" ], "id": "HGNC:49" }, { "id": "RGD:1316973" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCB9", "geneSynopsis": "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 family member functions in the translocation of peptides from the cytosol into the lysosomal lumen. Alternative splicing of this gene results in distinct isoforms which are likely to have different substrate specificities. [provided by RefSeq, Jul 2011]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily B member 9", "basicGeneticEntity": { "synonyms": [ "ABC transporter 9 protein", "ABC-type oligopeptide transporter ABCB9", "ATP-binding cassette sub-family B member 9", "ATP-binding cassette transporter 9", "ATP-binding cassette, sub-family B (MDR/TAP), member 9", "EST122234", "KIAA1520", "TAP-like protein", "TAPL", "hABCB9", "tap-like abc transporter" ], "secondaryIds": [ "RGD:733003" ], "genomeLocations": [ { "strand": "-", "endPosition": 122981649, "chromosome": "12", "assembly": "GRCh38", "startPosition": 122918610 } ], "primaryId": "HGNC:50", "crossReferences": [ { "id": "ENSEMBL:ENSG00000150967" }, { "id": "NCBI_Gene:23457" }, { "id": "PANTHER:PTHR43394" }, { "id": "UniProtKB:Q9NP78" }, { "pages": [ "gene/references" ], "id": "RGD:733003" }, { "pages": [ "gene" ], "id": "HGNC:50" }, { "id": "RGD:733003" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCC1", "geneSynopsis": "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 full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily C member 1 (ABCC1 blood group)", "basicGeneticEntity": { "synonyms": [ "ABC29", "ABCC", "ATP binding cassette subfamily C member 1", "ATP-binding cassette sub-family C member 1", "ATP-binding cassette transporter variant ABCC1delta-ex13", "ATP-binding cassette transporter variant ABCC1delta-ex13&14", "ATP-binding cassette transporter variant ABCC1delta-ex25", "ATP-binding cassette transporter variant ABCC1delta-ex25&26", "ATP-binding cassette, sub-family C (CFTR/MRP), member 1", "DFNA77", "DKFZp686N04233", "DKFZp781G125", "GS-X", "LTC4 transporter", "MRP", "MRP1", "glutathione S-conjugate export pump", "glutathione-S-conjugate-translocating ATPase ABCC1", "leukotriene C(4) transporter", "multidrug resistance associated protein 1", "multidrug resistance protein", "multidrug resistance-associated protein 1", "multiple drug resistance protein 1", "multiple drug resistance-associated protein" ], "secondaryIds": [ "RGD:1344624" ], "genomeLocations": [ { "strand": "+", "endPosition": 16143257, "chromosome": "16", "assembly": "GRCh38", "startPosition": 15949138 } ], "primaryId": "HGNC:51", "crossReferences": [ { "id": "ENSEMBL:ENSG00000103222" }, { "id": "ENSEMBL:ENSG00000278183" }, { "id": "NCBI_Gene:4363" }, { "id": "PANTHER:PTHR24223" }, { "id": "UniProtKB:P33527" }, { "pages": [ "gene/references" ], "id": "RGD:1344624" }, { "pages": [ "gene" ], "id": "HGNC:51" }, { "id": "RGD:1344624" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCC10", "geneSynopsis": "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, and White). This ABC full-transporter is a member of the MRP subfamily which is involved in multi-drug resistance. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2010]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily C member 10", "basicGeneticEntity": { "synonyms": [ "ATP-binding cassette sub-family C member 10", "ATP-binding cassette, sub-family C (CFTR/MRP), member 10", "EST182763", "MRP7", "SIMRP7", "multidrug resistance-associated protein 7" ], "secondaryIds": [ "RGD:1315462" ], "genomeLocations": [ { "strand": "+", "endPosition": 43451994, "chromosome": "6", "assembly": "GRCh38", "startPosition": 43427366 } ], "primaryId": "HGNC:52", "crossReferences": [ { "id": "ENSEMBL:ENSG00000124574" }, { "id": "NCBI_Gene:89845" }, { "id": "PANTHER:PTHR24223" }, { "id": "UniProtKB:Q5T3U5" }, { "pages": [ "gene/references" ], "id": "RGD:1315462" }, { "pages": [ "gene" ], "id": "HGNC:52" }, { "id": "RGD:1315462" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCC11", "geneSynopsis": "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 ABC full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. The product of this gene participates in physiological processes involving bile acids, conjugated steroids, and cyclic nucleotides. In addition, a SNP in this gene is responsible for determination of human earwax type. This gene and family member ABCC12 are determined to be derived by duplication and are both localized to chromosome 16q12.1. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily C member 11", "basicGeneticEntity": { "synonyms": [ "ATP-binding cassette protein C11", "ATP-binding cassette sub-family C member 11", "ATP-binding cassette transporter MRP8", "ATP-binding cassette transporter sub-family C member 11", "ATP-binding cassette, sub-family C (CFTR/MRP), member 11", "EWWD", "MRP8", "WW", "multi-resistance protein 8", "multidrug resistance-associated protein 8" ], "secondaryIds": [ "RGD:1350146" ], "genomeLocations": [ { "strand": "-", "endPosition": 48247568, "chromosome": "16", "assembly": "GRCh38", "startPosition": 48164819 } ], "primaryId": "HGNC:14639", "crossReferences": [ { "id": "ENSEMBL:ENSG00000121270" }, { "id": "NCBI_Gene:85320" }, { "id": "PANTHER:PTHR24223" }, { "id": "UniProtKB:Q96J66" }, { "pages": [ "gene/references" ], "id": "RGD:1350146" }, { "pages": [ "gene" ], "id": "HGNC:14639" }, { "id": "RGD:1350146" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCC12", "geneSynopsis": "This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two ATP-binding domains and 12 transmembrane regions. 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 gene is a member of the MRP subfamily which is involved in multi-drug resistance. This gene and another subfamily member are arranged head-to-tail on chromosome 16q12.1. Increased expression of this gene is associated with breast cancer. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily C member 12", "basicGeneticEntity": { "synonyms": [ "ATP-binding cassette sub-family C member 12", "ATP-binding cassette transporter sub-family C member 12", "ATP-binding cassette, sub-family C (CFTR/MRP), member 12", "MGC27071", "MRP9", "multidrug resistance-associated protein 9" ], "secondaryIds": [ "RGD:1342698" ], "genomeLocations": [ { "strand": "-", "endPosition": 48156018, "chromosome": "16", "assembly": "GRCh38", "startPosition": 48080882 } ], "primaryId": "HGNC:14640", "crossReferences": [ { "id": "ENSEMBL:ENSG00000140798" }, { "id": "NCBI_Gene:94160" }, { "id": "PANTHER:PTHR24223" }, { "id": "UniProtKB:Q96J65" }, { "pages": [ "gene/references" ], "id": "RGD:1342698" }, { "pages": [ "gene" ], "id": "HGNC:14640" }, { "id": "RGD:1342698" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCC13", "geneSynopsis": "This gene is a member of the superfamily of genes encoding 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, and White). This family member is part of the MRP subfamily, which is involved in multi-drug resistance, but the human locus is now thought to be a pseudogene incapable of encoding a functional ABC protein. Alternative splicing results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0000336", "name": "ATP binding cassette subfamily C member 13 (pseudogene)", "basicGeneticEntity": { "synonyms": [ "ABCC13P", "ATP-binding cassette protein C13", "C21orf73", "PRED6" ], "secondaryIds": [ "RGD:1352103" ], "genomeLocations": [ { "strand": "+", "endPosition": 14362754, "chromosome": "21", "assembly": "GRCh38", "startPosition": 14236206 } ], "primaryId": "HGNC:16022", "crossReferences": [ { "id": "ENSEMBL:ENSG00000291052" }, { "id": "ENSEMBL:ENSG00000243064" }, { "id": "NCBI_Gene:150000" }, { "pages": [ "gene/references" ], "id": "RGD:1352103" }, { "pages": [ "gene" ], "id": "HGNC:16022" }, { "id": "RGD:1352103" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCC2", "geneSynopsis": "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 is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily C member 2", "basicGeneticEntity": { "synonyms": [ "ABC30", "ATP-binding cassette sub-family C member 2", "ATP-binding cassette, sub-family C (CFTR/MRP), member 2", "CMOAT", "DJS", "KIAA1010", "MRP2", "cMRP", "canalicular multidrug resistance protein", "canalicular multispecific organic anion transporter 1", "multidrug resistance-associated protein 2" ], "secondaryIds": [ "RGD:619569" ], "genomeLocations": [ { "strand": "+", "endPosition": 99852594, "chromosome": "10", "assembly": "GRCh38", "startPosition": 99782640 } ], "primaryId": "HGNC:53", "crossReferences": [ { "id": "ENSEMBL:ENSG00000023839" }, { "id": "NCBI_Gene:1244" }, { "id": "PANTHER:PTHR24223" }, { "id": "UniProtKB:Q92887" }, { "pages": [ "gene/references" ], "id": "RGD:619569" }, { "pages": [ "gene" ], "id": "HGNC:53" }, { "id": "RGD:619569" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCC3", "geneSynopsis": "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. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily C member 3", "basicGeneticEntity": { "synonyms": [ "ABC31", "ATP-binding cassette sub-family C member 3", "ATP-binding cassette, sub-family C (CFTR/MRP), member 3", "DKFZp686E22157", "EST90757", "MLP2", "MOAT-D", "MRP3", "cMOAT2", "canalicular multispecific organic anion transporter 2", "canicular multispecific organic anion transporter", "multi-specific organic anion transporter D", "multidrug resistance associated protein", "multidrug resistance-associated protein 3" ], "secondaryIds": [ "RGD:736866" ], "genomeLocations": [ { "strand": "+", "endPosition": 50692631, "chromosome": "17", "assembly": "GRCh38", "startPosition": 50634609 } ], "primaryId": "HGNC:54", "crossReferences": [ { "id": "ENSEMBL:ENSG00000108846" }, { "id": "NCBI_Gene:8714" }, { "id": "PANTHER:PTHR24223" }, { "id": "UniProtKB:O15438" }, { "pages": [ "gene/references" ], "id": "RGD:736866" }, { "pages": [ "gene" ], "id": "HGNC:54" }, { "id": "RGD:736866" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCC4", "geneSynopsis": "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 family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily C member 4 (PEL blood group)", "basicGeneticEntity": { "synonyms": [ "ATP binding cassette subfamily C member 4", "ATP-binding cassette sub-family C member 4", "ATP-binding cassette, sub-family C (CFTR/MRP), member 4", "EST170205", "MOAT-B", "MOATB", "MRP/cMOAT-related ABC transporter", "MRP4", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "canalicular multispecific organic anion transporter (ABC superfamily)", "multi-specific organic anion transporter B", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B" ], "secondaryIds": [ "RGD:1352399" ], "genomeLocations": [ { "strand": "-", "endPosition": 95301822, "chromosome": "13", "assembly": "GRCh38", "startPosition": 95019835 } ], "primaryId": "HGNC:55", "crossReferences": [ { "id": "ENSEMBL:ENSG00000125257" }, { "id": "NCBI_Gene:10257" }, { "id": "PANTHER:PTHR24223" }, { "id": "UniProtKB:O15439" }, { "pages": [ "gene/references" ], "id": "RGD:1352399" }, { "pages": [ "gene" ], "id": "HGNC:55" }, { "id": "RGD:1352399" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCC5", "geneSynopsis": "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 in the cellular export of its substrate, cyclic nucleotides. This export contributes to the degradation of phosphodiesterases and possibly an elimination pathway for cyclic nucleotides. Studies show that this protein provides resistance to thiopurine anticancer drugs, 6-mercatopurine and thioguanine, and the anti-HIV drug 9-(2-phosphonylmethoxyethyl)adenine. This protein may be involved in resistance to thiopurines in acute lymphoblastic leukemia and antiretroviral nucleoside analogs in HIV-infected patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily C member 5", "basicGeneticEntity": { "synonyms": [ "ABC33", "ATP-binding cassette sub-family C member 5", "ATP-binding cassette, sub-family C (CFTR/MRP), member 5", "DKFZp686C1782", "EST277145", "MOAT-C", "MOATC", "MRP5", "SMRP", "atp-binding cassette, sub-family c (cftr/mrp), member 5a", "canalicular multispecific organic anion transporter C", "multi-specific organic anion transporter C", "multidrug resistance-associated protein 5", "pABC11" ], "secondaryIds": [ "RGD:734363" ], "genomeLocations": [ { "strand": "-", "endPosition": 184017939, "chromosome": "3", "assembly": "GRCh38", "startPosition": 183919934 } ], "primaryId": "HGNC:56", "crossReferences": [ { "id": "ENSEMBL:ENSG00000114770" }, { "id": "NCBI_Gene:10057" }, { "id": "PANTHER:PTHR24223" }, { "id": "UniProtKB:O15440" }, { "pages": [ "gene/references" ], "id": "RGD:734363" }, { "pages": [ "gene" ], "id": "HGNC:56" }, { "id": "RGD:734363" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCC5-AS1", "geneSynopsis": "INTERACTS WITH lipopolysaccharide; S-(1,2-dichlorovinyl)-L-cysteine", "soTermId": "SO:0001263", "name": "ABCC5 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "RP11-315J22.3" ], "secondaryIds": [ "RGD:6481332" ], "genomeLocations": [ { "strand": "+", "endPosition": 184011419, "chromosome": "3", "assembly": "GRCh38", "startPosition": 184006338 } ], "primaryId": "HGNC:40055", "crossReferences": [ { "id": "ENSEMBL:ENSG00000223882" }, { "id": "NCBI_Gene:100873982" }, { "pages": [ "gene/references" ], "id": "RGD:6481332" }, { "pages": [ "gene" ], "id": "HGNC:40055" }, { "id": "RGD:6481332" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCC6", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily C member 6", "basicGeneticEntity": { "synonyms": [ "ABC34", "ARA", "ATP-binding cassette sub-family C member 6", "ATP-binding cassette, sub-family C (CFTR/MRP), member 6", "EST349056", "GACI2", "MLP1", "MOAT-E", "MOATE", "MRP6", "PXE", "PXE1", "URG7", "anthracycline resistance-associated protein", "liver multidrug resistance-associated protein 6", "multi-specific organic anion transporter E", "multidrug resistance-associated protein 6", "pseudoxanthoma elasticum" ], "secondaryIds": [ "RGD:734433" ], "genomeLocations": [ { "strand": "-", "endPosition": 16223637, "chromosome": "16", "assembly": "GRCh38", "startPosition": 16149565 } ], "primaryId": "HGNC:57", "crossReferences": [ { "id": "ENSEMBL:ENSG00000091262" }, { "id": "ENSEMBL:ENSG00000275331" }, { "id": "NCBI_Gene:368" }, { "id": "PANTHER:PTHR24223" }, { "id": "UniProtKB:O95255" }, { "pages": [ "gene/references" ], "id": "RGD:734433" }, { "pages": [ "gene" ], "id": "HGNC:57" }, { "id": "RGD:734433" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCC6P1", "geneSynopsis": "INTERACTS WITH aflatoxin B1; benzo[a]pyrene; butanal", "soTermId": "SO:0000336", "name": "ATP binding cassette subfamily C member 6 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:1625838" ], "genomeLocations": [ { "strand": "+", "endPosition": 18598328, "chromosome": "16", "assembly": "GRCh38", "startPosition": 18570871 } ], "primaryId": "HGNC:33352", "crossReferences": [ { "id": "ENSEMBL:ENSG00000291057" }, { "id": "ENSEMBL:ENSG00000256340" }, { "id": "NCBI_Gene:653190" }, { "pages": [ "gene/references" ], "id": "RGD:1625838" }, { "pages": [ "gene" ], "id": "HGNC:33352" }, { "id": "RGD:1625838" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCC6P2", "geneSynopsis": "INTERACTS WITH benzo[a]pyrene; bisphenol A; cadmium dichloride", "soTermId": "SO:0000336", "name": "ATP binding cassette subfamily C member 6 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:2293908" ], "genomeLocations": [ { "strand": "-", "endPosition": 14825208, "chromosome": "16", "assembly": "GRCh38", "startPosition": 14810087 } ], "primaryId": "HGNC:33353", "crossReferences": [ { "id": "ENSEMBL:ENSG00000255277" }, { "id": "ENSEMBL:ENSG00000290943" }, { "id": "NCBI_Gene:730013" }, { "pages": [ "gene/references" ], "id": "RGD:2293908" }, { "pages": [ "gene" ], "id": "HGNC:33353" }, { "id": "RGD:2293908" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCC8", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily C member 8", "basicGeneticEntity": { "synonyms": [ "ABC36", "ATP-binding cassette sub-family C member 8", "ATP-binding cassette transporter sub-family C member 8", "ATP-binding cassette, sub-family C (CFTR/MRP), member 8", "HHF1", "HI", "HRINS", "MODY12", "MRP8", "PHHI", "PNDM3", "SUR", "SUR1", "SUR1delta2", "TNDM2", "atp-binding cassette, subfamily c (cftr/mrp), member 8", "sulfonylurea receptor (hyperinsulinemia)", "sulfonylurea receptor 1" ], "secondaryIds": [ "RGD:733938" ], "genomeLocations": [ { "strand": "-", "endPosition": 17476894, "chromosome": "11", "assembly": "GRCh38", "startPosition": 17392498 } ], "primaryId": "HGNC:59", "crossReferences": [ { "id": "ENSEMBL:ENSG00000006071" }, { "id": "NCBI_Gene:6833" }, { "id": "PANTHER:PTHR24223" }, { "id": "UniProtKB:Q09428" }, { "pages": [ "gene/references" ], "id": "RGD:733938" }, { "pages": [ "gene" ], "id": "HGNC:59" }, { "id": "RGD:733938" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCC9", "geneSynopsis": "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 is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily C member 9", "basicGeneticEntity": { "synonyms": [ "ABC37", "ATFB12", "ATP-binding cassette sub-family C member 9", "ATP-binding cassette transporter sub-family C member 9", "ATP-binding cassette, sub-family C (CFTR/MRP), member 9", "CANTU", "CMD1O", "FLJ36852", "IDMYS", "SUR2", "sulfonylurea receptor 2", "sulfonylurea receptor 2A" ], "secondaryIds": [ "RGD:735726" ], "genomeLocations": [ { "strand": "-", "endPosition": 21942543, "chromosome": "12", "assembly": "GRCh38", "startPosition": 21797389 } ], "primaryId": "HGNC:60", "crossReferences": [ { "id": "ENSEMBL:ENSG00000069431" }, { "id": "NCBI_Gene:10060" }, { "id": "PANTHER:PTHR24223" }, { "id": "UniProtKB:O60706" }, { "pages": [ "gene/references" ], "id": "RGD:735726" }, { "pages": [ "gene" ], "id": "HGNC:60" }, { "id": "RGD:735726" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCD1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily D member 1", "basicGeneticEntity": { "synonyms": [ "ABC42", "ALD", "ALDP", "AMN", "ATP-binding cassette sub-family D member 1", "ATP-binding cassette, sub-family D (ALD), member 1", "adrenoleukodystrophy protein" ], "secondaryIds": [ "RGD:1352747" ], "genomeLocations": [ { "strand": "+", "endPosition": 153744755, "chromosome": "X", "assembly": "GRCh38", "startPosition": 153724495 } ], "primaryId": "HGNC:61", "crossReferences": [ { "id": "ENSEMBL:ENSG00000101986" }, { "id": "NCBI_Gene:215" }, { "id": "PANTHER:PTHR11384" }, { "id": "UniProtKB:P33897" }, { "pages": [ "gene/references" ], "id": "RGD:1352747" }, { "pages": [ "gene" ], "id": "HGNC:61" }, { "id": "RGD:1352747" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCD1P1", "soTermId": "SO:0000336", "name": "ATP binding cassette subfamily D member 1 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:1353939" ], "genomeLocations": [ { "strand": "-", "endPosition": 89767368, "chromosome": "2", "assembly": "GRCh38", "startPosition": 89763173 } ], "primaryId": "HGNC:62", "crossReferences": [ { "id": "NCBI_Gene:23785" }, { "pages": [ "gene/references" ], "id": "RGD:1353939" }, { "pages": [ "gene" ], "id": "HGNC:62" }, { "id": "RGD:1353939" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCD1P2", "soTermId": "SO:0000336", "name": "ATP binding cassette subfamily D member 1 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "bA453N3.6" ], "secondaryIds": [ "RGD:1351336" ], "genomeLocations": [ { "strand": "+", "endPosition": 38605609, "chromosome": "10", "assembly": "GRCh38", "startPosition": 38601416 } ], "primaryId": "HGNC:63", "crossReferences": [ { "id": "ENSEMBL:ENSG00000215151" }, { "id": "NCBI_Gene:26983" }, { "pages": [ "gene/references" ], "id": "RGD:1351336" }, { "pages": [ "gene" ], "id": "HGNC:63" }, { "id": "RGD:1351336" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCD1P3", "soTermId": "SO:0000336", "name": "ATP binding cassette subfamily D member 1 pseudogene 3", "basicGeneticEntity": { "secondaryIds": [ "RGD:1342564" ], "genomeLocations": [ { "strand": "-", "endPosition": 32478250, "chromosome": "16", "assembly": "GRCh38", "startPosition": 32474823 } ], "primaryId": "HGNC:64", "crossReferences": [ { "id": "ENSEMBL:ENSG00000261233" }, { "id": "NCBI_Gene:26982" }, { "pages": [ "gene/references" ], "id": "RGD:1342564" }, { "pages": [ "gene" ], "id": "HGNC:64" }, { "id": "RGD:1342564" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCD1P4", "soTermId": "SO:0000336", "name": "ATP binding cassette subfamily D member 1 pseudogene 4", "basicGeneticEntity": { "synonyms": [ "ALD22Q11" ], "secondaryIds": [ "RGD:1351987" ], "genomeLocations": [ { "strand": "+", "endPosition": 16391877, "chromosome": "22", "assembly": "GRCh38", "startPosition": 16387689 } ], "primaryId": "HGNC:65", "crossReferences": [ { "id": "ENSEMBL:ENSG00000225293" }, { "id": "NCBI_Gene:26957" }, { "pages": [ "gene/references" ], "id": "RGD:1351987" }, { "pages": [ "gene" ], "id": "HGNC:65" }, { "id": "RGD:1351987" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCD1P5", "soTermId": "SO:0000336", "name": "ATP binding cassette subfamily D member 1 pseudogene 5", "basicGeneticEntity": { "secondaryIds": [ "RGD:5487936" ], "genomeLocations": [ { "strand": "+", "endPosition": 91844011, "chromosome": "2", "assembly": "GRCh38", "startPosition": 91840601 } ], "primaryId": "HGNC:42662", "crossReferences": [ { "id": "ENSEMBL:ENSG00000214330" }, { "id": "NCBI_Gene:642762" }, { "pages": [ "gene/references" ], "id": "RGD:5487936" }, { "pages": [ "gene" ], "id": "HGNC:42662" }, { "id": "RGD:5487936" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCD2", "geneSynopsis": "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. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily D member 2", "basicGeneticEntity": { "synonyms": [ "ABC39", "ALDL1", "ALDR", "ALDRP", "ATP-binding cassette sub-family D member 2", "ATP-binding cassette, sub-family D (ALD), member 2", "adrenoleukodystrophy-like 1", "adrenoleukodystrophy-related protein", "hALDR" ], "secondaryIds": [ "RGD:730967" ], "genomeLocations": [ { "strand": "-", "endPosition": 39619803, "chromosome": "12", "assembly": "GRCh38", "startPosition": 39531025 } ], "primaryId": "HGNC:66", "crossReferences": [ { "id": "ENSEMBL:ENSG00000173208" }, { "id": "NCBI_Gene:225" }, { "id": "PANTHER:PTHR11384" }, { "id": "UniProtKB:Q9UBJ2" }, { "pages": [ "gene/references" ], "id": "RGD:730967" }, { "pages": [ "gene" ], "id": "HGNC:66" }, { "id": "RGD:730967" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCD3", "geneSynopsis": "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 likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily D member 3", "basicGeneticEntity": { "synonyms": [ "70 kDa peroxisomal membrane protein", "ABC43", "ATP-binding cassette sub-family D member 3", "ATP-binding cassette, sub-family D (ALD), member 3", "CBAS5", "OPDM5", "PMP70", "PXMP1", "Peroxisomal membrane protein-1 (70kD)", "ZWS2", "dJ824O18.1 (ATP-binding cassette, sub-family D (ALD), member 3 (PMP70, PXMP1))", "peroxisomal membrane protein 1 (70kD, Zellweger syndrome)", "peroxisomal membrane protein 70 kDa" ], "secondaryIds": [ "RGD:736620" ], "genomeLocations": [ { "strand": "+", "endPosition": 94518666, "chromosome": "1", "assembly": "GRCh38", "startPosition": 94385131 } ], "primaryId": "HGNC:67", "crossReferences": [ { "id": "ENSEMBL:ENSG00000117528" }, { "id": "NCBI_Gene:5825" }, { "id": "PANTHER:PTHR11384" }, { "id": "UniProtKB:P28288" }, { "pages": [ "gene/references" ], "id": "RGD:736620" }, { "pages": [ "gene" ], "id": "HGNC:67" }, { "id": "RGD:736620" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCD4", "geneSynopsis": "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. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in several protein-coding and non-protein-coding variants. [provided by RefSeq, Jul 2017]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily D member 4", "basicGeneticEntity": { "synonyms": [ "69 kDa peroxisomal ABC-transporter", "ABC41", "ATP-binding cassette sub-family D member 4", "ATP-binding cassette, sub-family D (ALD), member 4", "EST352188", "MAHCJ", "P70R", "P79R", "PMP69", "PMP70-related protein", "PXMP1-L", "PXMP1L", "lysosomal cobalamin transporter ABCD4", "peroxisomal membrane protein 1-like", "peroxisomal membrane protein 69" ], "secondaryIds": [ "RGD:1316370" ], "genomeLocations": [ { "strand": "-", "endPosition": 74303055, "chromosome": "14", "assembly": "GRCh38", "startPosition": 74285269 } ], "primaryId": "HGNC:68", "crossReferences": [ { "id": "ENSEMBL:ENSG00000119688" }, { "id": "NCBI_Gene:5826" }, { "id": "PANTHER:PTHR11384" }, { "id": "UniProtKB:O14678" }, { "pages": [ "gene/references" ], "id": "RGD:1316370" }, { "pages": [ "gene" ], "id": "HGNC:68" }, { "id": "RGD:1316370" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCE1", "geneSynopsis": "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 OABP subfamily. Alternatively referred to as the RNase L inhibitor, this protein functions to block the activity of ribonuclease L. Activation of ribonuclease L leads to inhibition of protein synthesis in the 2-5A/RNase L system, the central pathway for viral interferon action. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily E member 1", "basicGeneticEntity": { "synonyms": [ "2'-5'-oligoadenylate-binding protein", "ABC38", "ATP-binding cassette sub-family E member 1", "ATP-binding cassette, sub-family E (OABP), member 1", "OABP", "RLI", "RLI1", "RNASEL1", "RNASELI", "RNS4I", "RNase L inhibitor", "RNase L inhibitor 1", "huHP68", "ribonuclease 4 inhibitor", "ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) inhibitor" ], "secondaryIds": [ "RGD:1313249" ], "genomeLocations": [ { "strand": "+", "endPosition": 145129524, "chromosome": "4", "assembly": "GRCh38", "startPosition": 145098248 } ], "primaryId": "HGNC:69", "crossReferences": [ { "id": "ENSEMBL:ENSG00000164163" }, { "id": "NCBI_Gene:6059" }, { "id": "PANTHER:PTHR19248" }, { "id": "UniProtKB:P61221" }, { "pages": [ "gene/references" ], "id": "RGD:1313249" }, { "pages": [ "gene" ], "id": "HGNC:69" }, { "id": "RGD:1313249" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCE1P1", "soTermId": "SO:0000336", "name": "ABCE1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AC006026.1", "ATP binding cassette subfamily E member 1 pseudogene", "ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1) pseudogene", "LOC442517" ], "secondaryIds": [ "RGD:16552994" ], "genomeLocations": [ { "strand": "-", "endPosition": 23564393, "chromosome": "7", "assembly": "GRCh38", "startPosition": 23562264 } ], "primaryId": "HGNC:58656", "crossReferences": [ { "id": "ENSEMBL:ENSG00000224785" }, { "id": "NCBI_Gene:442517" }, { "pages": [ "gene/references" ], "id": "RGD:16552994" }, { "pages": [ "gene" ], "id": "HGNC:58656" }, { "id": "RGD:16552994" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCE1P2", "soTermId": "SO:0000336", "name": "ABCE1 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ATP binding cassette subfamily E member 1 pseudogene", "LOC647150" ], "secondaryIds": [ "RGD:38602029" ], "genomeLocations": [ { "strand": "-", "endPosition": 192247495, "chromosome": "1", "assembly": "GRCh38", "startPosition": 192246509 } ], "primaryId": "HGNC:58657", "crossReferences": [ { "id": "NCBI_Gene:647150" }, { "pages": [ "gene/references" ], "id": "RGD:38602029" }, { "pages": [ "gene" ], "id": "HGNC:58657" }, { "id": "RGD:38602029" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCE1P3", "soTermId": "SO:0000336", "name": "ABCE1 pseudogene 3", "basicGeneticEntity": { "secondaryIds": [ "RGD:625776946" ], "primaryId": "HGNC:58658", "crossReferences": [ { "id": "NCBI_Gene:142761588" }, { "pages": [ "gene/references" ], "id": "RGD:625776946" }, { "pages": [ "gene" ], "id": "HGNC:58658" }, { "id": "RGD:625776946" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCF1", "geneSynopsis": "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 GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily F member 1", "basicGeneticEntity": { "synonyms": [ "ABC27", "ABC50", "ATP-binding cassette 50 (TNF-alpha stimulated)", "ATP-binding cassette sub-family F member 1", "ATP-binding cassette, sub-family F (GCN20), member 1", "TNF-alpha-stimulated ABC protein", "TNFalpha-inducible ATP-binding protein" ], "secondaryIds": [ "RGD:734018" ], "genomeLocations": [ { "strand": "+", "endPosition": 30597179, "chromosome": "6", "assembly": "GRCh38", "startPosition": 30571393 } ], "primaryId": "HGNC:70", "crossReferences": [ { "id": "ENSEMBL:ENSG00000231129" }, { "id": "ENSEMBL:ENSG00000204574" }, { "id": "ENSEMBL:ENSG00000206490" }, { "id": "ENSEMBL:ENSG00000236342" }, { "id": "ENSEMBL:ENSG00000236149" }, { "id": "ENSEMBL:ENSG00000232169" }, { "id": "ENSEMBL:ENSG00000225989" }, { "id": "NCBI_Gene:23" }, { "id": "PANTHER:PTHR19211" }, { "id": "UniProtKB:Q8NE71" }, { "pages": [ "gene/references" ], "id": "RGD:734018" }, { "pages": [ "gene" ], "id": "HGNC:70" }, { "id": "RGD:734018" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCF1-DT", "soTermId": "SO:0001263", "name": "ABCF1 divergent transcript", "basicGeneticEntity": { "secondaryIds": [ "RGD:13208465" ], "genomeLocations": [ { "strand": "-", "endPosition": 30571301, "chromosome": "6", "assembly": "GRCh38", "startPosition": 30563613 } ], "primaryId": "HGNC:53628", "crossReferences": [ { "id": "NCBI_Gene:107986587" }, { "pages": [ "gene/references" ], "id": "RGD:13208465" }, { "pages": [ "gene" ], "id": "HGNC:53628" }, { "id": "RGD:13208465" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCF2", "geneSynopsis": "This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding cassette proteins transport various molecules across extra- and intracellular membranes. Alterations in this gene may be involved in cancer progression. Related pseudogenes have been identified on chromosomes 3 and 7. [provided by RefSeq, Mar 2019]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily F member 2", "basicGeneticEntity": { "synonyms": [ "ABC-type transport protein", "ABC28", "ATP-binding cassette sub-family F member 2", "ATP-binding cassette, sub-family F (GCN20), member 2", "DKFZp586K1823", "EST133090", "HUSSY-18", "HUSSY18", "Iron inhibited ABC transporter 2", "M-ABC1", "iron-inhibited ABC transporter 2" ], "secondaryIds": [ "RGD:1312673" ], "genomeLocations": [ { "strand": "-", "endPosition": 151227241, "chromosome": "7", "assembly": "GRCh38", "startPosition": 151211484 } ], "primaryId": "HGNC:71", "crossReferences": [ { "id": "ENSEMBL:ENSG00000285292" }, { "id": "ENSEMBL:ENSG00000033050" }, { "id": "NCBI_Gene:10061" }, { "id": "PANTHER:PTHR19211" }, { "id": "UniProtKB:Q9UG63" }, { "pages": [ "gene/references" ], "id": "RGD:1312673" }, { "pages": [ "gene" ], "id": "HGNC:71" }, { "id": "RGD:1312673" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCF2-H2BK1", "geneSynopsis": "This gene represents readthrough transcription between ABCF2 and a downstream histone H2B-like gene. [provided by RefSeq, Mar 2019]", "soTermId": "SO:0001217", "name": "ABCF2-H2BK1 readthrough", "basicGeneticEntity": { "synonyms": [ "ABCF2-H2B protein", "ABCF2-H2B readthrough", "ABCF2-H2BE1", "ABCF2-H2BE1 readthrough" ], "secondaryIds": [ "RGD:18182974" ], "genomeLocations": [ { "strand": "-", "endPosition": 151227205, "chromosome": "7", "assembly": "GRCh38", "startPosition": 151207837 } ], "primaryId": "HGNC:54751", "crossReferences": [ { "id": "ENSEMBL:ENSG00000285292" }, { "id": "NCBI_Gene:114483834" }, { "id": "PANTHER:PTHR19211" }, { "id": "UniProtKB:A0A090N7Y2" }, { "pages": [ "gene/references" ], "id": "RGD:18182974" }, { "pages": [ "gene" ], "id": "HGNC:54751" }, { "id": "RGD:18182974" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCF2P1", "soTermId": "SO:0000336", "name": "ATP binding cassette subfamily F member 2 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:7246954" ], "genomeLocations": [ { "strand": "+", "endPosition": 88319022, "chromosome": "3", "assembly": "GRCh38", "startPosition": 88317091 } ], "primaryId": "HGNC:48841", "crossReferences": [ { "id": "ENSEMBL:ENSG00000242159" }, { "id": "NCBI_Gene:344653" }, { "pages": [ "gene/references" ], "id": "RGD:7246954" }, { "pages": [ "gene" ], "id": "HGNC:48841" }, { "id": "RGD:7246954" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCF2P2", "soTermId": "SO:0000336", "name": "ATP binding cassette subfamily F member 2 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:7246989" ], "genomeLocations": [ { "strand": "+", "endPosition": 72104209, "chromosome": "7", "assembly": "GRCh38", "startPosition": 72103172 } ], "primaryId": "HGNC:48842", "crossReferences": [ { "id": "ENSEMBL:ENSG00000228769" }, { "id": "NCBI_Gene:100422059" }, { "pages": [ "gene/references" ], "id": "RGD:7246989" }, { "pages": [ "gene" ], "id": "HGNC:48842" }, { "id": "RGD:7246989" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCF3", "geneSynopsis": "This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding cassette proteins transport various molecules across extra- and intracellular membranes. The protein encoded by this gene displays antiviral effect against flaviviruses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily F member 3", "basicGeneticEntity": { "synonyms": [ "ATP-binding cassette sub-family F member 3", "ATP-binding cassette, sub-family F (GCN20), member 3", "EST201864", "FLJ11198" ], "secondaryIds": [ "RGD:1321386" ], "genomeLocations": [ { "strand": "+", "endPosition": 184194013, "chromosome": "3", "assembly": "GRCh38", "startPosition": 184186095 } ], "primaryId": "HGNC:72", "crossReferences": [ { "id": "ENSEMBL:ENSG00000161204" }, { "id": "NCBI_Gene:55324" }, { "id": "PANTHER:PTHR19211" }, { "id": "UniProtKB:Q9NUQ8" }, { "pages": [ "gene/references" ], "id": "RGD:1321386" }, { "pages": [ "gene" ], "id": "HGNC:72" }, { "id": "RGD:1321386" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCG1", "geneSynopsis": "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. It is involved in macrophage cholesterol and phospholipids transport, and may regulate cellular lipid homeostasis in other cell types. Six alternative splice variants have been identified. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily G member 1", "basicGeneticEntity": { "synonyms": [ "ABC transporter 8", "ABC8", "ATP-binding cassette sub-family G member 1", "ATP-binding cassette transporter 8", "ATP-binding cassette transporter member 1 of subfamily G", "ATP-binding cassette, sub-family G (WHITE), member 1", "MGC34313", "WHITE1", "homolog of Drosophila white", "white protein homolog (ATP-binding cassette transporter 8)" ], "secondaryIds": [ "RGD:732853" ], "genomeLocations": [ { "strand": "+", "endPosition": 42304389, "chromosome": "21", "assembly": "GRCh38", "startPosition": 42199689 } ], "primaryId": "HGNC:73", "crossReferences": [ { "id": "ENSEMBL:ENSG00000160179" }, { "id": "NCBI_Gene:9619" }, { "id": "PANTHER:PTHR48041" }, { "id": "UniProtKB:P45844" }, { "pages": [ "gene/references" ], "id": "RGD:732853" }, { "pages": [ "gene" ], "id": "HGNC:73" }, { "id": "RGD:732853" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCG2", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily G member 2 (JR blood group)", "basicGeneticEntity": { "synonyms": [ "ABC transporter", "ABC15", "ABCP", "ATP binding cassette subfamily G member 2 (Junior blood group)", "ATP-binding cassette sub-family G member 2", "ATP-binding cassette transporter G2", "ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)", "ATPbinding cassette transporter ABCG2", "BCRP", "BCRP1", "BMDP", "CD338", "CDw338", "CDw388", "EST157481", "GOUT1", "MGC102821", "MRX", "MXR", "MXR-1", "MXR1", "UAQTL1", "breast cancer resistance protein", "broad substrate specificity ATP-binding cassette transporter ABCG2", "broad substrate specificity ATP-binding cassette transporter ABCG2 isoform 1 (Junior blood group)", "gout susceptibility 1", "mitoxantrone resistance protein", "mitoxantrone resistance-associated protein", "multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2", "placenta specific MDR protein", "placenta-specific ATP-binding cassette transporter", "urate exporter" ], "secondaryIds": [ "RGD:1352615" ], "genomeLocations": [ { "strand": "-", "endPosition": 88231818, "chromosome": "4", "assembly": "GRCh38", "startPosition": 88090150 } ], "primaryId": "HGNC:74", "crossReferences": [ { "id": "ENSEMBL:ENSG00000118777" }, { "id": "NCBI_Gene:9429" }, { "id": "PANTHER:PTHR48041" }, { "id": "UniProtKB:Q9UNQ0" }, { "pages": [ "gene/references" ], "id": "RGD:1352615" }, { "pages": [ "gene" ], "id": "HGNC:74" }, { "id": "RGD:1352615" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCG4", "geneSynopsis": "The protein encoded by this gene is a member of the ATP-binding cassette (ABC) transporter superfamily. 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 is a member of the White subfamily and plays an important role in cellular cholesterol homeostasis. This protein functions as either a homodimer or as a heterodimer with another ABC subfamily protein such as ABCG1. [provided by RefSeq, Jan 2017]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily G member 4", "basicGeneticEntity": { "synonyms": [ "ATP-binding cassette sub-family G member 4", "ATP-binding cassette, sub-family G (WHITE), member 4", "ATP-binding cassette, subfamily G, member 4", "WHITE2", "putative ABC transporter" ], "secondaryIds": [ "RGD:1314115" ], "genomeLocations": [ { "strand": "+", "endPosition": 119162666, "chromosome": "11", "assembly": "GRCh38", "startPosition": 119149052 } ], "primaryId": "HGNC:13884", "crossReferences": [ { "id": "ENSEMBL:ENSG00000172350" }, { "id": "NCBI_Gene:64137" }, { "id": "PANTHER:PTHR48041" }, { "id": "UniProtKB:Q9H172" }, { "pages": [ "gene/references" ], "id": "RGD:1314115" }, { "pages": [ "gene" ], "id": "HGNC:13884" }, { "id": "RGD:1314115" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCG5", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily G member 5", "basicGeneticEntity": { "synonyms": [ "ATP-binding cassette sub-family G member 5", "ATP-binding cassette, sub-family G (WHITE), member 5", "ATP-binding cassette, subfamily G, member 5", "STSL", "STSL2", "sterolin 1", "sterolin-1" ], "secondaryIds": [ "RGD:732219" ], "genomeLocations": [ { "strand": "-", "endPosition": 43839231, "chromosome": "2", "assembly": "GRCh38", "startPosition": 43806211 } ], "primaryId": "HGNC:13886", "crossReferences": [ { "id": "ENSEMBL:ENSG00000138075" }, { "id": "NCBI_Gene:64240" }, { "id": "PANTHER:PTHR48041" }, { "id": "UniProtKB:Q9H222" }, { "pages": [ "gene/references" ], "id": "RGD:732219" }, { "pages": [ "gene" ], "id": "HGNC:13886" }, { "id": "RGD:732219" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABCG8", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ATP binding cassette subfamily G member 8", "basicGeneticEntity": { "synonyms": [ "ATP-binding cassette sub-family G member 8", "ATP-binding cassette, sub-family G (WHITE), member 8", "ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)", "ATP-binding cassette, subfamily G, member 8", "GBD4", "MGC142217", "STSL", "STSL1", "sterolin 2", "sterolin-2" ], "secondaryIds": [ "RGD:732770" ], "genomeLocations": [ { "strand": "+", "endPosition": 43882988, "chromosome": "2", "assembly": "GRCh38", "startPosition": 43831942 } ], "primaryId": "HGNC:13887", "crossReferences": [ { "id": "ENSEMBL:ENSG00000143921" }, { "id": "NCBI_Gene:64241" }, { "id": "PANTHER:PTHR48041" }, { "id": "UniProtKB:Q9H221" }, { "pages": [ "gene/references" ], "id": "RGD:732770" }, { "pages": [ "gene" ], "id": "HGNC:13887" }, { "id": "RGD:732770" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD1", "geneSynopsis": "This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "abhydrolase domain containing 1", "basicGeneticEntity": { "synonyms": [ "FLJ36128", "LABH1", "abhydrolase domain-containing protein 1", "alpha/beta hydrolase domain-containing protein 1", "lung alpha/beta hydrolase 1", "testicular tissue protein Li 5" ], "secondaryIds": [ "RGD:1322201" ], "genomeLocations": [ { "strand": "+", "endPosition": 27130812, "chromosome": "2", "assembly": "GRCh38", "startPosition": 27123789 } ], "primaryId": "HGNC:17553", "crossReferences": [ { "id": "ENSEMBL:ENSG00000143994" }, { "id": "NCBI_Gene:84696" }, { "id": "PANTHER:PTHR10794" }, { "id": "UniProtKB:Q96SE0" }, { "pages": [ "gene/references" ], "id": "RGD:1322201" }, { "pages": [ "gene" ], "id": "HGNC:17553" }, { "id": "RGD:1322201" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD10", "geneSynopsis": "This gene encodes a mitochondrially-localized enzyme that acts in liver cells as a hydrolase. The encoded protein removes glucuronide from mycophenolic acid acyl-glucuronide. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]", "soTermId": "SO:0001217", "name": "abhydrolase domain containing 10, depalmitoylase", "basicGeneticEntity": { "synonyms": [ "FLJ11342", "abhydrolase domain containing 10", "abhydrolase domain-containing protein 10, mitochondrial", "acyl-protein thioesterase ABHD10", "alpha/beta hydrolase domain-containing protein 10, mitochondrial", "mycophenolic acid acyl-glucuronide esterase, mitochondrial", "palmitoyl-protein thioesterase ABHD10, mitochondrial" ], "secondaryIds": [ "RGD:1346003" ], "genomeLocations": [ { "strand": "+", "endPosition": 111993368, "chromosome": "3", "assembly": "GRCh38", "startPosition": 111978972 } ], "primaryId": "HGNC:25656", "crossReferences": [ { "id": "ENSEMBL:ENSG00000144827" }, { "id": "NCBI_Gene:55347" }, { "id": "PANTHER:PTHR16138" }, { "id": "UniProtKB:Q9NUJ1" }, { "pages": [ "gene/references" ], "id": "RGD:1346003" }, { "pages": [ "gene" ], "id": "HGNC:25656" }, { "id": "RGD:1346003" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD11", "geneSynopsis": "This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Mar 2016]", "soTermId": "SO:0001217", "name": "abhydrolase domain containing 11", "basicGeneticEntity": { "synonyms": [ "PP1226", "WBSCR21", "Williams Beuren syndrome chromosome region 21", "abhydrolase domain-containing protein 11", "alpha/beta hydrolase domain-containing protein 11", "sn-1-specific diacylglycerol lipase ABHD11", "williams-Beuren syndrome chromosomal region 21 protein" ], "secondaryIds": [ "RGD:1606493" ], "genomeLocations": [ { "strand": "-", "endPosition": 73738863, "chromosome": "7", "assembly": "GRCh38", "startPosition": 73736091 } ], "primaryId": "HGNC:16407", "crossReferences": [ { "id": "ENSEMBL:ENSG00000106077" }, { "id": "NCBI_Gene:83451" }, { "id": "PANTHER:PTHR46118" }, { "id": "UniProtKB:Q8NFV4" }, { "pages": [ "gene/references" ], "id": "RGD:1606493" }, { "pages": [ "gene" ], "id": "HGNC:16407" }, { "id": "RGD:1606493" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD12", "geneSynopsis": "This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011]", "soTermId": "SO:0001217", "name": "abhydrolase domain containing 12, lysophospholipase", "basicGeneticEntity": { "synonyms": [ "2-arachidonoylglycerol hydrolase", "2-arachidonoylglycerol hydrolase ABHD12", "ABHD12A", "BEM46L2", "C20orf22", "DKFZp434P106", "PHARC", "abhydrolase domain containing 12", "abhydrolase domain-containing protein 12", "chromosome 20 open reading frame 22", "dJ965G21.2", "hABHD12", "lysophosphatidylserine lipase ABHD12", "monoacylglycerol lipase ABHD12", "oxidized phosphatidylserine lipase ABHD12" ], "secondaryIds": [ "RGD:1314604" ], "genomeLocations": [ { "strand": "-", "endPosition": 25390866, "chromosome": "20", "assembly": "GRCh38", "startPosition": 25294742 } ], "primaryId": "HGNC:15868", "crossReferences": [ { "id": "ENSEMBL:ENSG00000100997" }, { "id": "NCBI_Gene:26090" }, { "id": "PANTHER:PTHR12277" }, { "id": "UniProtKB:Q8N2K0" }, { "pages": [ "gene/references" ], "id": "RGD:1314604" }, { "pages": [ "gene" ], "id": "HGNC:15868" }, { "id": "RGD:1314604" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD12B", "geneSynopsis": "Predicted to enable lysophospholipase activity and monoacylglycerol lipase activity. Predicted to be involved in monoacylglycerol catabolic process and phosphatidylserine catabolic process. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "abhydrolase domain containing 12B", "basicGeneticEntity": { "synonyms": [ "BEM46L3", "C14orf29", "MGC129926", "MGC129927", "abhydrolase domain-containing protein 12B", "alpha/beta hydrolase domain-containing protein 12B", "c14_5314" ], "secondaryIds": [ "RGD:1349841" ], "genomeLocations": [ { "strand": "+", "endPosition": 50904970, "chromosome": "14", "assembly": "GRCh38", "startPosition": 50872053 } ], "primaryId": "HGNC:19837", "crossReferences": [ { "id": "ENSEMBL:ENSG00000131969" }, { "id": "NCBI_Gene:145447" }, { "id": "PANTHER:PTHR12277" }, { "id": "UniProtKB:Q7Z5M8" }, { "pages": [ "gene/references" ], "id": "RGD:1349841" }, { "pages": [ "gene" ], "id": "HGNC:19837" }, { "id": "RGD:1349841" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD13", "geneSynopsis": "Predicted to enable palmitoyl-(protein) hydrolase activity. Predicted to be involved in protein depalmitoylation. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "abhydrolase domain containing 13", "basicGeneticEntity": { "synonyms": [ "BEM46L1", "C13orf6", "FLJ14906", "MGC27058", "RP11-153I24.2", "abhydrolase domain-containing protein 13", "alpha/beta hydrolase domain-containing protein 13", "bA153I24.2", "chromosome 13 open reading frame 6" ], "secondaryIds": [ "RGD:1318018" ], "genomeLocations": [ { "strand": "+", "endPosition": 108234243, "chromosome": "13", "assembly": "GRCh38", "startPosition": 108218167 } ], "primaryId": "HGNC:20293", "crossReferences": [ { "id": "ENSEMBL:ENSG00000139826" }, { "id": "NCBI_Gene:84945" }, { "id": "PANTHER:PTHR12277" }, { "id": "UniProtKB:Q7L211" }, { "pages": [ "gene/references" ], "id": "RGD:1318018" }, { "pages": [ "gene" ], "id": "HGNC:20293" }, { "id": "RGD:1318018" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD14A", "geneSynopsis": "Predicted to enable hydrolase activity. Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "abhydrolase domain containing 14A", "basicGeneticEntity": { "synonyms": [ "DKFZp564O243", "DORZ1", "FLJ60317", "FLJ60467", "abhydrolase domain-containing protein 14A", "alpha/beta hydrolase domain-containing protein 14A" ], "secondaryIds": [ "RGD:1601874" ], "genomeLocations": [ { "strand": "+", "endPosition": 51981197, "chromosome": "3", "assembly": "GRCh38", "startPosition": 51971426 } ], "primaryId": "HGNC:24538", "crossReferences": [ { "id": "ENSEMBL:ENSG00000248487" }, { "id": "NCBI_Gene:25864" }, { "id": "PANTHER:PTHR46197" }, { "id": "UniProtKB:Q9BUJ0" }, { "pages": [ "gene/references" ], "id": "RGD:1601874" }, { "pages": [ "gene" ], "id": "HGNC:24538" }, { "id": "RGD:1601874" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD14A-ACY1", "geneSynopsis": "This locus represents naturally occurring read-through transcription between the neighboring abhydrolase domain containing 14A (ABHD14A) and aminoacylase 1 (ACY1) genes on chromosome 3. The read-through transcript encodes a protein that shares sequence identity with the downstream gene product but its N-terminal region is distinct due to the use of an alternate start codon relative to the upstream gene. [provided by RefSeq, Oct 2015]", "soTermId": "SO:0001217", "name": "ABHD14A-ACY1 readthrough", "basicGeneticEntity": { "synonyms": [ "ABHD14A-ACY1 readthrough (NMD candidate)", "ABHD14A-ACY1 readthrough (non-protein coding)", "FLJ60317", "FLJ60467" ], "secondaryIds": [ "RGD:5133081" ], "genomeLocations": [ { "strand": "+", "endPosition": 51989197, "chromosome": "3", "assembly": "GRCh38", "startPosition": 51974706 } ], "primaryId": "HGNC:38856", "crossReferences": [ { "id": "ENSEMBL:ENSG00000114786" }, { "id": "NCBI_Gene:100526760" }, { "id": "PANTHER:PTHR45892" }, { "id": "PANTHER:PTHR46197" }, { "id": "UniProtKB:A0A1B0GW23" }, { "id": "UniProtKB:A0A1B0GW28" }, { "id": "UniProtKB:A0A1B0GWD9" }, { "id": "UniProtKB:B4DNW0" }, { "id": "UniProtKB:A0A1B0GVW5" }, { "id": "UniProtKB:A0A1B0GVQ8" }, { "id": "UniProtKB:A0A1B0GVN8" }, { "id": "UniProtKB:A0A1B0GVC5" }, { "id": "UniProtKB:A0A1B0GV31" }, { "id": "UniProtKB:A0A1B0GUT4" }, { "id": "UniProtKB:A0A1B0GU64" }, { "id": "UniProtKB:A0A1B0GVA5" }, { "id": "UniProtKB:C9JMV9" }, { "id": "UniProtKB:F2Z3Q0" }, { "pages": [ "gene/references" ], "id": "RGD:5133081" }, { "pages": [ "gene" ], "id": "HGNC:38856" }, { "id": "RGD:5133081" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD14B", "geneSynopsis": "Enables hydrolase activity. Involved in positive regulation of transcription by RNA polymerase II. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "abhydrolase domain containing 14B", "basicGeneticEntity": { "synonyms": [ "CCG1-interacting factor B", "CCG1/TAFII250-interacting factor B", "CIB", "HEL-S-299", "MGC15429", "abhydrolase domain-containing protein 14B", "alpha/beta hydrolase domain-containing protein 14B", "cell cycle gene 1-interacting factor B", "epididymis secretory protein Li 299", "putative protein-lysine deacylase ABHD14B" ], "secondaryIds": [ "RGD:1603002" ], "genomeLocations": [ { "strand": "-", "endPosition": 51983409, "chromosome": "3", "assembly": "GRCh38", "startPosition": 51968510 } ], "primaryId": "HGNC:28235", "crossReferences": [ { "id": "ENSEMBL:ENSG00000114779" }, { "id": "NCBI_Gene:84836" }, { "id": "PANTHER:PTHR46197" }, { "id": "UniProtKB:Q96IU4" }, { "pages": [ "gene/references" ], "id": "RGD:1603002" }, { "pages": [ "gene" ], "id": "HGNC:28235" }, { "id": "RGD:1603002" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD15", "geneSynopsis": "Predicted to enable monoacylglycerol lipase activity and short-chain carboxylesterase activity. Predicted to be involved in adipose tissue development and lipid catabolic process. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "abhydrolase domain containing 15", "basicGeneticEntity": { "synonyms": [ "abhydrolase domain-containing protein 15", "alpha/beta hydrolase domain-containing protein 15" ], "secondaryIds": [ "RGD:1605591" ], "genomeLocations": [ { "strand": "-", "endPosition": 29567037, "chromosome": "17", "assembly": "GRCh38", "startPosition": 29560547 } ], "primaryId": "HGNC:26971", "crossReferences": [ { "id": "ENSEMBL:ENSG00000168792" }, { "id": "NCBI_Gene:116236" }, { "id": "PANTHER:PTHR10794" }, { "id": "UniProtKB:Q6UXT9" }, { "pages": [ "gene/references" ], "id": "RGD:1605591" }, { "pages": [ "gene" ], "id": "HGNC:26971" }, { "id": "RGD:1605591" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD15-AS1", "soTermId": "SO:0001263", "name": "ABHD15 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "linc-TP53I13", "lnc-TP53I13" ], "secondaryIds": [ "RGD:9588876" ], "genomeLocations": [ { "strand": "+", "endPosition": 29707090, "chromosome": "17", "assembly": "GRCh38", "startPosition": 29560547 } ], "primaryId": "HGNC:49685", "crossReferences": [ { "id": "ENSEMBL:ENSG00000264031" }, { "id": "NCBI_Gene:104355133" }, { "pages": [ "gene/references" ], "id": "RGD:9588876" }, { "pages": [ "gene" ], "id": "HGNC:49685" }, { "id": "RGD:9588876" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD16A", "geneSynopsis": "A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]", "soTermId": "SO:0001217", "name": "abhydrolase domain containing 16A, phospholipase", "basicGeneticEntity": { "synonyms": [ "BAT5", "D6S82E", "HLA-B associated transcript 5", "NG26", "PP199", "SPG86", "abhydrolase domain containing 16A", "abhydrolase domain-containing protein 16A", "alpha/beta hydrolase domain-containing protein 16A", "hBAT5", "monoacylglycerol lipase ABHD16A", "phosphatidylserine lipase ABHD16A", "protein G5" ], "secondaryIds": [ "RGD:1351609" ], "genomeLocations": [ { "strand": "-", "endPosition": 31703356, "chromosome": "6", "assembly": "GRCh38", "startPosition": 31686954 } ], "primaryId": "HGNC:13921", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230475" }, { "id": "ENSEMBL:ENSG00000204427" }, { "id": "ENSEMBL:ENSG00000206403" }, { "id": "ENSEMBL:ENSG00000236063" }, { "id": "ENSEMBL:ENSG00000235676" }, { "id": "ENSEMBL:ENSG00000231488" }, { "id": "ENSEMBL:ENSG00000224552" }, { "id": "NCBI_Gene:7920" }, { "id": "PANTHER:PTHR12277" }, { "id": "UniProtKB:O95870" }, { "pages": [ "gene/references" ], "id": "RGD:1351609" }, { "pages": [ "gene" ], "id": "HGNC:13921" }, { "id": "RGD:1351609" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD16A-AS1", "soTermId": "SO:0001263", "name": "ABHD16A antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LOC105375018", "uncharacterized LOC105375018" ], "secondaryIds": [ "RGD:38649718" ], "genomeLocations": [ { "strand": "+", "endPosition": 31691316, "chromosome": "6", "assembly": "GRCh38", "startPosition": 31689649 } ], "primaryId": "HGNC:59161", "crossReferences": [ { "id": "NCBI_Gene:105375018" }, { "pages": [ "gene/references" ], "id": "RGD:38649718" }, { "pages": [ "gene" ], "id": "HGNC:59161" }, { "id": "RGD:38649718" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD16B", "geneSynopsis": "Predicted to enable monoacylglycerol lipase activity and phospholipase activity. Predicted to be involved in monoacylglycerol catabolic process and phosphatidylserine catabolic process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "abhydrolase domain containing 16B", "basicGeneticEntity": { "synonyms": [ "C20orf135", "MGC42974", "abhydrolase domain-containing protein 16B", "alpha/beta hydrolase domain-containing protein 16B", "dJ591C20.1", "hypothetical protein LOC140701" ], "secondaryIds": [ "RGD:1320221" ], "genomeLocations": [ { "strand": "+", "endPosition": 63862988, "chromosome": "20", "assembly": "GRCh38", "startPosition": 63861498 } ], "primaryId": "HGNC:16128", "crossReferences": [ { "id": "ENSEMBL:ENSG00000183260" }, { "id": "NCBI_Gene:140701" }, { "id": "PANTHER:PTHR12277" }, { "id": "UniProtKB:Q9H3Z7" }, { "pages": [ "gene/references" ], "id": "RGD:1320221" }, { "pages": [ "gene" ], "id": "HGNC:16128" }, { "id": "RGD:1320221" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD16B-AS1", "soTermId": "SO:0001263", "name": "ABHD16B antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LOC112268269", "uncharacterized LOC112268269" ], "secondaryIds": [ "RGD:38643283" ], "genomeLocations": [ { "strand": "-", "endPosition": 63865073, "chromosome": "20", "assembly": "GRCh38", "startPosition": 63861215 } ], "primaryId": "HGNC:58392", "crossReferences": [ { "id": "NCBI_Gene:112268269" }, { "pages": [ "gene/references" ], "id": "RGD:38643283" }, { "pages": [ "gene" ], "id": "HGNC:58392" }, { "id": "RGD:38643283" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD17A", "geneSynopsis": "Enables palmitoyl-(protein) hydrolase activity. Involved in negative regulation of NLRP3 inflammasome complex assembly; protein depalmitoylation; and protein localization to membrane. Located in endosome membrane; nuclear speck; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "abhydrolase domain containing 17A, depalmitoylase", "basicGeneticEntity": { "synonyms": [ "C19orf27", "FAM108A1", "MGC5244", "abhydrolase domain containing 17A", "abhydrolase domain-containing protein 17A", "abhydrolase domain-containing protein FAM108A1", "alpha/beta hydrolase domain-containing protein 17A", "chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1" ], "secondaryIds": [ "RGD:1347246" ], "genomeLocations": [ { "strand": "-", "endPosition": 1885618, "chromosome": "19", "assembly": "GRCh38", "startPosition": 1876810 } ], "primaryId": "HGNC:28756", "crossReferences": [ { "id": "ENSEMBL:ENSG00000129968" }, { "id": "NCBI_Gene:81926" }, { "id": "PANTHER:PTHR12277" }, { "id": "UniProtKB:Q96GS6" }, { "pages": [ "gene/references" ], "id": "RGD:1347246" }, { "pages": [ "gene" ], "id": "HGNC:28756" }, { "id": "RGD:1347246" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD17AP1", "geneSynopsis": "INTERACTS WITH temozolomide", "soTermId": "SO:0000336", "name": "ABHD17A pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ABHD17AP2", "C1orf47", "FAM108A11P", "FAM108A2", "FAM108A3", "FAM108A3P", "abhydrolase domain containing 17A pseudogene 1", "family with sequence similarity 108, member A11, pseudogene", "family with sequence similarity 108, member A3, pseudogene" ], "secondaryIds": [ "RGD:1604668" ], "genomeLocations": [ { "strand": "+", "endPosition": 148149788, "chromosome": "1", "assembly": "GRCh38", "startPosition": 148146066 } ], "primaryId": "HGNC:28394", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198658" }, { "id": "NCBI_Gene:728917" }, { "pages": [ "gene/references" ], "id": "RGD:1604668" }, { "pages": [ "gene" ], "id": "HGNC:28394" }, { "id": "RGD:1604668" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD17AP3", "soTermId": "SO:0000336", "name": "ABHD17A pseudogene 3", "basicGeneticEntity": { "synonyms": [ "FAM108A4", "FAM108A4P", "abhydrolase domain containing 17A pseudogene 3", "family with sequence similarity 108, member A4" ], "secondaryIds": [ "RGD:2292190" ], "genomeLocations": [ { "strand": "-", "endPosition": 214609203, "chromosome": "1", "assembly": "GRCh38", "startPosition": 214605457 } ], "primaryId": "HGNC:34041", "crossReferences": [ { "id": "ENSEMBL:ENSG00000250536" }, { "id": "NCBI_Gene:648359" }, { "pages": [ "gene/references" ], "id": "RGD:2292190" }, { "pages": [ "gene" ], "id": "HGNC:34041" }, { "id": "RGD:2292190" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD17AP4", "geneSynopsis": "INTERACTS WITH resveratrol", "soTermId": "SO:0000336", "name": "ABHD17A pseudogene 4", "basicGeneticEntity": { "synonyms": [ "FAM108A5", "FAM108A5P", "abhydrolase domain containing 17A pseudogene P4" ], "secondaryIds": [ "RGD:2293157" ], "genomeLocations": [ { "strand": "-", "endPosition": 20671339, "chromosome": "22", "assembly": "GRCh38", "startPosition": 20667597 } ], "primaryId": "HGNC:34042", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229107" }, { "id": "NCBI_Gene:729495" }, { "pages": [ "gene/references" ], "id": "RGD:2293157" }, { "pages": [ "gene" ], "id": "HGNC:34042" }, { "id": "RGD:2293157" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD17AP5", "geneSynopsis": "This locus is a pseudogene in the FAM108 family, and lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. [provided by RefSeq, Jun 2010]", "soTermId": "SO:0000336", "name": "ABHD17A pseudogene 5", "basicGeneticEntity": { "synonyms": [ "FAM108A6", "FAM108A6P", "Putative abhydrolase domain-containing protein FAM108A6", "abhydrolase domain containing 17A pseudogene 5" ], "secondaryIds": [ "RGD:3520891" ], "genomeLocations": [ { "strand": "-", "endPosition": 22118005, "chromosome": "22", "assembly": "GRCh38", "startPosition": 22114844 } ], "primaryId": "HGNC:34043", "crossReferences": [ { "id": "ENSEMBL:ENSG00000263366" }, { "id": "NCBI_Gene:91219" }, { "pages": [ "gene/references" ], "id": "RGD:3520891" }, { "pages": [ "gene" ], "id": "HGNC:34043" }, { "id": "RGD:3520891" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD17AP6", "soTermId": "SO:0000336", "name": "ABHD17A pseudogene 6", "basicGeneticEntity": { "synonyms": [ "FAM108A7P", "abhydrolase domain containing 17A pseudogene 6" ], "secondaryIds": [ "RGD:3378585" ], "genomeLocations": [ { "strand": "+", "endPosition": 20844479, "chromosome": "17", "assembly": "GRCh38", "startPosition": 20814620 } ], "primaryId": "HGNC:34044", "crossReferences": [ { "id": "ENSEMBL:ENSG00000226981" }, { "id": "NCBI_Gene:644988" }, { "pages": [ "gene/references" ], "id": "RGD:3378585" }, { "pages": [ "gene" ], "id": "HGNC:34044" }, { "id": "RGD:3378585" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD17AP7", "soTermId": "SO:0000336", "name": "ABHD17A pseudogene 7", "basicGeneticEntity": { "synonyms": [ "FAM108A8P", "abhydrolase domain containing 17A pseudogene 7" ], "secondaryIds": [ "RGD:3207450" ], "genomeLocations": [ { "strand": "-", "endPosition": 32729540, "chromosome": "16", "assembly": "GRCh38", "startPosition": 32726412 } ], "primaryId": "HGNC:38508", "crossReferences": [ { "id": "ENSEMBL:ENSG00000260864" }, { "id": "NCBI_Gene:100133212" }, { "pages": [ "gene/references" ], "id": "RGD:3207450" }, { "pages": [ "gene" ], "id": "HGNC:38508" }, { "id": "RGD:3207450" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD17AP8", "soTermId": "SO:0000336", "name": "ABHD17A pseudogene 8", "basicGeneticEntity": { "synonyms": [ "FAM108A9P", "abhydrolase domain containing 17A pseudogene 8" ], "secondaryIds": [ "RGD:2859282" ], "genomeLocations": [ { "strand": "+", "endPosition": 32203021, "chromosome": "16", "assembly": "GRCh38", "startPosition": 32199899 } ], "primaryId": "HGNC:38509", "crossReferences": [ { "id": "ENSEMBL:ENSG00000260540" }, { "id": "NCBI_Gene:647144" }, { "pages": [ "gene/references" ], "id": "RGD:2859282" }, { "pages": [ "gene" ], "id": "HGNC:38509" }, { "id": "RGD:2859282" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD17AP9", "soTermId": "SO:0000336", "name": "ABHD17A pseudogene 9", "basicGeneticEntity": { "synonyms": [ "FAM108A10P", "abhydrolase domain containing 17A pseudogene 9" ], "secondaryIds": [ "RGD:3418290" ], "genomeLocations": [ { "strand": "+", "endPosition": 33144023, "chromosome": "16", "assembly": "GRCh38", "startPosition": 33140850 } ], "primaryId": "HGNC:38510", "crossReferences": [ { "id": "ENSEMBL:ENSG00000261536" }, { "id": "NCBI_Gene:100132251" }, { "pages": [ "gene/references" ], "id": "RGD:3418290" }, { "pages": [ "gene" ], "id": "HGNC:38510" }, { "id": "RGD:3418290" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD17B", "geneSynopsis": "Enables palmitoyl-(protein) hydrolase activity. Involved in protein depalmitoylation. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "abhydrolase domain containing 17B, depalmitoylase", "basicGeneticEntity": { "synonyms": [ "C9orf77", "CGI-67", "FAM108B1", "RP11-409O11.2", "abhydrolase domain containing 17B", "abhydrolase domain-containing protein 17B", "abhydrolase domain-containing protein FAM108B1", "alpha/beta hydrolase domain-containing protein 17B", "chromosome 9 open reading frame 77", "family with sequence similarity 108, member B1" ], "secondaryIds": [ "RGD:1313162" ], "genomeLocations": [ { "strand": "-", "endPosition": 71911224, "chromosome": "9", "assembly": "GRCh38", "startPosition": 71862452 } ], "primaryId": "HGNC:24278", "crossReferences": [ { "id": "ENSEMBL:ENSG00000107362" }, { "id": "NCBI_Gene:51104" }, { "id": "PANTHER:PTHR12277" }, { "id": "UniProtKB:Q5VST6" }, { "pages": [ "gene/references" ], "id": "RGD:1313162" }, { "pages": [ "gene" ], "id": "HGNC:24278" }, { "id": "RGD:1313162" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD17C", "geneSynopsis": "Enables palmitoyl-(protein) hydrolase activity. Involved in protein depalmitoylation. Predicted to be located in dendritic spine; postsynaptic density membrane; and recycling endosome membrane. Predicted to be active in endosome membrane; glutamatergic synapse; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "abhydrolase domain containing 17C, depalmitoylase", "basicGeneticEntity": { "synonyms": [ "FAM108C1", "FLJ34461", "MGC131546", "abhydrolase domain containing 17C", "abhydrolase domain-containing protein 17C", "abhydrolase domain-containing protein FAM108C1", "alpha/beta hydrolase domain-containing protein 17C", "family with sequence similarity 108, member C1" ], "secondaryIds": [ "RGD:1603613" ], "genomeLocations": [ { "strand": "+", "endPosition": 80755621, "chromosome": "15", "assembly": "GRCh38", "startPosition": 80679684 } ], "primaryId": "HGNC:26925", "crossReferences": [ { "id": "ENSEMBL:ENSG00000136379" }, { "id": "NCBI_Gene:58489" }, { "id": "PANTHER:PTHR12277" }, { "id": "UniProtKB:Q6PCB6" }, { "pages": [ "gene/references" ], "id": "RGD:1603613" }, { "pages": [ "gene" ], "id": "HGNC:26925" }, { "id": "RGD:1603613" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD18", "geneSynopsis": "Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "abhydrolase domain containing 18", "basicGeneticEntity": { "synonyms": [ "C4orf29", "FLJ21106", "MGC149227", "MGC149228", "abhydrolase domain-containing protein 18", "alpha/beta hydrolase domain-containing protein 18", "hypothetical protein LOC80167", "uncharacterized protein C4orf29" ], "secondaryIds": [ "RGD:1604791" ], "genomeLocations": [ { "strand": "+", "endPosition": 128039953, "chromosome": "4", "assembly": "GRCh38", "startPosition": 127965267 } ], "primaryId": "HGNC:26111", "crossReferences": [ { "id": "ENSEMBL:ENSG00000164074" }, { "id": "NCBI_Gene:80167" }, { "id": "PANTHER:PTHR13617" }, { "id": "UniProtKB:Q0P651" }, { "pages": [ "gene/references" ], "id": "RGD:1604791" }, { "pages": [ "gene" ], "id": "HGNC:26111" }, { "id": "RGD:1604791" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD2", "geneSynopsis": "This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a wide range of enzymes. The encoded protein is an acylglycerol lipase that catalyzes the hydrolysis of endocannabinoid arachidonoylglycerol from the cell membrane. This leads to activation of the sperm calcium channel CatSper, which results in sperm activation. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jan 2017]", "soTermId": "SO:0001217", "name": "abhydrolase domain containing 2, acylglycerol lipase", "basicGeneticEntity": { "synonyms": [ "2-arachidonoylglycerol hydrolase", "HS1-2", "LABH2", "MGC111112", "MGC26249", "PHPS1-2", "abhydrolase domain containing 2", "abhydrolase domain-containing protein 2", "acetylesterase", "alpha/beta hydrolase domain containing protein 2", "lung alpha/beta hydrolase 2", "monoacylglycerol lipase ABHD2", "progesterone-sensitive lipase", "testicular tissue protein Li 6" ], "secondaryIds": [ "RGD:1322825" ], "genomeLocations": [ { "strand": "+", "endPosition": 89202355, "chromosome": "15", "assembly": "GRCh38", "startPosition": 89040998 } ], "primaryId": "HGNC:18717", "crossReferences": [ { "id": "ENSEMBL:ENSG00000140526" }, { "id": "NCBI_Gene:11057" }, { "id": "PANTHER:PTHR10794" }, { "id": "UniProtKB:P08910" }, { "pages": [ "gene/references" ], "id": "RGD:1322825" }, { "pages": [ "gene" ], "id": "HGNC:18717" }, { "id": "RGD:1322825" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD3", "geneSynopsis": "This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "abhydrolase domain containing 3, phospholipase", "basicGeneticEntity": { "synonyms": [ "LABH3", "MGC11259", "abhydrolase domain containing 3", "abhydrolase domain-containing protein 3", "alpha/beta hydrolase domain containing protein 3", "lung alpha/beta hydrolase 3", "phospholipase ABHD3" ], "secondaryIds": [ "RGD:1321686" ], "genomeLocations": [ { "strand": "-", "endPosition": 21704808, "chromosome": "18", "assembly": "GRCh38", "startPosition": 21650898 } ], "primaryId": "HGNC:18718", "crossReferences": [ { "id": "ENSEMBL:ENSG00000158201" }, { "id": "NCBI_Gene:171586" }, { "id": "PANTHER:PTHR10794" }, { "id": "UniProtKB:Q8WU67" }, { "pages": [ "gene/references" ], "id": "RGD:1321686" }, { "pages": [ "gene" ], "id": "HGNC:18718" }, { "id": "RGD:1321686" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD4", "geneSynopsis": "Predicted to enable lysophosphatidic acid acyltransferase activity and lysophospholipase activity. Predicted to be involved in N-acylphosphatidylethanolamine metabolic process; lipid homeostasis; and phosphatidic acid biosynthetic process. Predicted to act upstream of or within N-acylethanolamine metabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in lipid droplet and mitochondrion. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "abhydrolase domain containing 4, N-acyl phospholipase B", "basicGeneticEntity": { "synonyms": [ "(Lyso)-N-acylphosphatidylethanolamine lipase", "ABH4", "FLJ12816", "abhydrolase domain containing 4", "abhydrolase domain-containing protein 4", "alpha/beta hydrolase domain-containing protein 4", "alpha/beta-hydrolase 4", "lyso-N-acylphosphatidylethanolamine lipase" ], "secondaryIds": [ "RGD:1323534" ], "genomeLocations": [ { "strand": "+", "endPosition": 22612963, "chromosome": "14", "assembly": "GRCh38", "startPosition": 22598249 } ], "primaryId": "HGNC:20154", "crossReferences": [ { "id": "ENSEMBL:ENSG00000100439" }, { "id": "NCBI_Gene:63874" }, { "id": "PANTHER:PTHR42886" }, { "id": "UniProtKB:Q8TB40" }, { "pages": [ "gene/references" ], "id": "RGD:1323534" }, { "pages": [ "gene" ], "id": "HGNC:20154" }, { "id": "RGD:1323534" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD5", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "abhydrolase domain containing 5, lysophosphatidic acid acyltransferase", "basicGeneticEntity": { "synonyms": [ "1-acylglycerol-3-phosphate O-acyltransferase ABHD5", "CDS", "CGI58", "IECN2", "MGC8731", "NCIE2", "abhydrolase domain containing 5", "abhydrolase domain-containing protein 5", "lipid droplet-binding protein CGI-58", "truncated abhydrolase domain-containing protein 5" ], "secondaryIds": [ "RGD:1342875" ], "genomeLocations": [ { "strand": "+", "endPosition": 43734371, "chromosome": "3", "assembly": "GRCh38", "startPosition": 43690108 } ], "primaryId": "HGNC:21396", "crossReferences": [ { "id": "ENSEMBL:ENSG00000011198" }, { "id": "NCBI_Gene:51099" }, { "id": "PANTHER:PTHR42886" }, { "id": "UniProtKB:Q8WTS1" }, { "pages": [ "gene/references" ], "id": "RGD:1342875" }, { "pages": [ "gene" ], "id": "HGNC:21396" }, { "id": "RGD:1342875" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD6", "geneSynopsis": "Enables monoacylglycerol lipase activity. Involved in acylglycerol catabolic process. Predicted to be located in late endosome membrane and lysosomal membrane. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in GABA-ergic synapse; glutamatergic synapse; and postsynaptic membrane. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "abhydrolase domain containing 6, acylglycerol lipase", "basicGeneticEntity": { "synonyms": [ "2-arachidonoylglycerol hydrolase", "abhydrolase domain containing 6", "abhydrolase domain-containing protein 6", "lipase protein", "monoacylglycerol lipase ABHD6" ], "secondaryIds": [ "RGD:1351429" ], "genomeLocations": [ { "strand": "+", "endPosition": 58295693, "chromosome": "3", "assembly": "GRCh38", "startPosition": 58237516 } ], "primaryId": "HGNC:21398", "crossReferences": [ { "id": "ENSEMBL:ENSG00000163686" }, { "id": "NCBI_Gene:57406" }, { "id": "PANTHER:PTHR43798" }, { "id": "UniProtKB:Q9BV23" }, { "pages": [ "gene/references" ], "id": "RGD:1351429" }, { "pages": [ "gene" ], "id": "HGNC:21398" }, { "id": "RGD:1351429" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABHD8", "geneSynopsis": "This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "abhydrolase domain containing 8", "basicGeneticEntity": { "synonyms": [ "FLJ11743", "MGC14280", "MGC2512", "abhydrolase domain-containing protein 8", "alpha/beta hydrolase domain-containing protein 8" ], "secondaryIds": [ "RGD:1313870" ], "genomeLocations": [ { "strand": "-", "endPosition": 17310236, "chromosome": "19", "assembly": "GRCh38", "startPosition": 17292131 } ], "primaryId": "HGNC:23759", "crossReferences": [ { "id": "ENSEMBL:ENSG00000127220" }, { "id": "NCBI_Gene:79575" }, { "id": "PANTHER:PTHR42886" }, { "id": "UniProtKB:Q96I13" }, { "pages": [ "gene/references" ], "id": "RGD:1313870" }, { "pages": [ "gene" ], "id": "HGNC:23759" }, { "id": "RGD:1313870" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABI1", "geneSynopsis": "This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal remodeling through interactions with Abelson tyrosine kinases. The encoded protein plays a role in macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies including melanoma, colon cancer and breast cancer, and a t(10;11) chromosomal translocation involving this gene and the MLL gene has been associated with acute myeloid leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Sep 2011]", "soTermId": "SO:0001217", "name": "abl interactor 1", "basicGeneticEntity": { "synonyms": [ "ABI-1", "ABLBP4", "Abelson interactor 1", "Abl-interactor protein 1 long", "E3B1", "NAP1BP", "SSH3BP", "SSH3BP1", "abl-binding protein 4", "abl-interactor 1", "eps8 SH3 domain-binding protein", "eps8 binding protein", "eps8-binding protein", "interactor protein AblBP4", "nap1 binding protein", "nap1-binding protein", "spectrin SH3 domain binding protein 1", "spectrin SH3 domain-binding protein 1" ], "secondaryIds": [ "RGD:1604650" ], "genomeLocations": [ { "strand": "-", "endPosition": 26861094, "chromosome": "10", "assembly": "GRCh38", "startPosition": 26745942 } ], "primaryId": "HGNC:11320", "crossReferences": [ { "id": "ENSEMBL:ENSG00000136754" }, { "id": "NCBI_Gene:10006" }, { "id": "PANTHER:PTHR10460" }, { "id": "UniProtKB:Q8IZP0" }, { "pages": [ "gene/references" ], "id": "RGD:1604650" }, { "pages": [ "gene" ], "id": "HGNC:11320" }, { "id": "RGD:1604650" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABI1P1", "soTermId": "SO:0000336", "name": "abl interactor 1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ABI1P", "SSH3BP1P", "abl-interactor 1 pseudogene 1" ], "secondaryIds": [ "RGD:1351473" ], "genomeLocations": [ { "strand": "+", "endPosition": 55550363, "chromosome": "14", "assembly": "GRCh38", "startPosition": 55546559 } ], "primaryId": "HGNC:20035", "crossReferences": [ { "id": "ENSEMBL:ENSG00000271484" }, { "id": "NCBI_Gene:326268" }, { "pages": [ "gene/references" ], "id": "RGD:1351473" }, { "pages": [ "gene" ], "id": "HGNC:20035" }, { "id": "RGD:1351473" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABI2", "geneSynopsis": "Enables several functions, including SH3 domain binding activity; proline-rich region binding activity; and ubiquitin protein ligase binding activity. Contributes to small GTPase binding activity. Involved in several processes, including Rac protein signal transduction; positive regulation of cellular component organization; and zonula adherens assembly. Acts upstream of or within peptidyl-tyrosine phosphorylation. Located in several cellular components, including actin filament; filopodium tip; and lamellipodium. Part of SCAR complex. Is active in adherens junction. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "abl interactor 2", "basicGeneticEntity": { "synonyms": [ "ABI-2", "ABI2B", "AIP-1", "AIP1", "AblBP3", "SSH3BP2", "abelson interactor 2", "abl binding protein 3", "abl-binding protein 3", "abl-interacting protein 1 (SH3-containing protein)", "abl-interactor 2", "abl-interactor protein 2b", "arg protein tyrosine kinase-binding protein", "arg-binding protein 1", "argBP1", "argBPIA", "argBPIB" ], "secondaryIds": [ "RGD:1353143" ], "genomeLocations": [ { "strand": "+", "endPosition": 203447728, "chromosome": "2", "assembly": "GRCh38", "startPosition": 203328252 } ], "primaryId": "HGNC:24011", "crossReferences": [ { "id": "ENSEMBL:ENSG00000138443" }, { "id": "NCBI_Gene:10152" }, { "id": "PANTHER:PTHR10460" }, { "id": "UniProtKB:Q9NYB9" }, { "pages": [ "gene/references" ], "id": "RGD:1353143" }, { "pages": [ "gene" ], "id": "HGNC:24011" }, { "id": "RGD:1353143" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABI3", "geneSynopsis": "This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]", "soTermId": "SO:0001217", "name": "ABI family member 3", "basicGeneticEntity": { "synonyms": [ "ABI family, member 3", "ABI gene family member 3", "ABI gene family, member 3", "NESH", "SSH3BP3", "new molecule including SH3" ], "secondaryIds": [ "RGD:1323432" ], "genomeLocations": [ { "strand": "+", "endPosition": 49223225, "chromosome": "17", "assembly": "GRCh38", "startPosition": 49210411 } ], "primaryId": "HGNC:29859", "crossReferences": [ { "id": "ENSEMBL:ENSG00000108798" }, { "id": "NCBI_Gene:51225" }, { "id": "PANTHER:PTHR10460" }, { "id": "UniProtKB:Q9P2A4" }, { "pages": [ "gene/references" ], "id": "RGD:1323432" }, { "pages": [ "gene" ], "id": "HGNC:29859" }, { "id": "RGD:1323432" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABI3BP", "geneSynopsis": "Predicted to enable actin filament binding activity. Predicted to be involved in several processes, including extracellular matrix organization; positive regulation of cell-substrate adhesion; and regulation of postsynapse organization. Located in collagen-containing extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "ABI family member 3 binding protein", "basicGeneticEntity": { "synonyms": [ "ABI gene family member 3-binding protein", "ABI gene family, member 3 (NESH) binding protein", "FLJ41743", "FLJ41754", "NESHBP", "TARSH", "nesh-binding protein", "target of Nesh-SH3" ], "secondaryIds": [ "RGD:1349467" ], "genomeLocations": [ { "strand": "-", "endPosition": 100993515, "chromosome": "3", "assembly": "GRCh38", "startPosition": 100749155 } ], "primaryId": "HGNC:17265", "crossReferences": [ { "id": "ENSEMBL:ENSG00000154175" }, { "id": "NCBI_Gene:25890" }, { "id": "PANTHER:PTHR23197" }, { "id": "UniProtKB:Q7Z7G0" }, { "pages": [ "gene/references" ], "id": "RGD:1349467" }, { "pages": [ "gene" ], "id": "HGNC:17265" }, { "id": "RGD:1349467" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABITRAM", "geneSynopsis": "Predicted to enable actin filament binding activity and actin monomer binding activity. Predicted to be involved in dendrite morphogenesis; regulation of actin filament polymerization; and regulation of filopodium assembly. Predicted to be located in growth cone. Predicted to be active in several cellular components, including dendrite; filopodium tip; and lamellipodium. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "actin binding transcription modulator", "basicGeneticEntity": { "synonyms": [ "C9orf6", "CG-8", "FAM206A", "FLJ20457", "Simiate", "family with sequence similarity 206 member A", "family with sequence similarity 206, member A", "hypothetical protein LOC54942" ], "secondaryIds": [ "RGD:1352417" ], "genomeLocations": [ { "strand": "+", "endPosition": 108950744, "chromosome": "9", "assembly": "GRCh38", "startPosition": 108934400 } ], "primaryId": "HGNC:1364", "crossReferences": [ { "id": "ENSEMBL:ENSG00000119328" }, { "id": "NCBI_Gene:54942" }, { "id": "PANTHER:PTHR13651" }, { "id": "UniProtKB:Q9NX38" }, { "pages": [ "gene/references" ], "id": "RGD:1352417" }, { "pages": [ "gene" ], "id": "HGNC:1364" }, { "id": "RGD:1352417" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABITRAMP1", "geneSynopsis": "INTERACTS WITH cadmium dichloride", "soTermId": "SO:0000336", "name": "ABITRAM pseudogene 1", "basicGeneticEntity": { "synonyms": [ "FAM206BP", "FLJ21562", "family with sequence similarity 206 member B, pseudogene" ], "secondaryIds": [ "RGD:5489266" ], "genomeLocations": [ { "strand": "+", "endPosition": 46270818, "chromosome": "13", "assembly": "GRCh38", "startPosition": 46270053 } ], "primaryId": "HGNC:39851", "crossReferences": [ { "id": "ENSEMBL:ENSG00000251106" }, { "id": "NCBI_Gene:390403" }, { "pages": [ "gene/references" ], "id": "RGD:5489266" }, { "pages": [ "gene" ], "id": "HGNC:39851" }, { "id": "RGD:5489266" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABL1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ABL proto-oncogene 1, non-receptor tyrosine kinase", "basicGeneticEntity": { "synonyms": [ "ABL", "ABL protooncogene 1 nonreceptor tyrosine kinase", "Abelson tyrosine-protein kinase 1", "BCR-ABL", "BCR-ABL1 p190", "BCR/ABL e8a2 fusion", "BCR/ABL1 fusion", "BCR/ABL1 fusion protein e3a1", "CHDSKM", "JTK7", "bcr/abl", "bcr/c-abl oncogene protein", "c-ABL", "c-ABL1", "c-abl oncogene 1, non-receptor tyrosine kinase", "c-abl oncogene 1, receptor tyrosine kinase", "p150", "proto-oncogene c-Abl", "proto-oncogene tyrosine-protein kinase ABL1", "truncated ABL protooncogene 1 nonreceptor tyrosine kinase", "tyrosine-protein kinase", "tyrosine-protein kinase ABL1", "v-abl", "v-abl Abelson murine leukemia viral oncogene homolog 1" ], "secondaryIds": [ "RGD:1342972" ], "genomeLocations": [ { "strand": "+", "endPosition": 130887675, "chromosome": "9", "assembly": "GRCh38", "startPosition": 130713043 } ], "primaryId": "HGNC:76", "crossReferences": [ { "id": "ENSEMBL:ENSG00000097007" }, { "id": "NCBI_Gene:25" }, { "id": "PANTHER:PTHR24418" }, { "id": "UniProtKB:P00519" }, { "pages": [ "gene/references" ], "id": "RGD:1342972" }, { "pages": [ "gene" ], "id": "HGNC:76" }, { "id": "RGD:1342972" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABL2", "geneSynopsis": "This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrangements through its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2009]", "soTermId": "SO:0001217", "name": "ABL proto-oncogene 2, non-receptor tyrosine kinase", "basicGeneticEntity": { "synonyms": [ "ABLL", "ARG", "Abelson murine leukemia viral (v-abl) oncogene homolog 2", "Abelson tyrosine-protein kinase 2", "Abelson-related", "FLJ22224", "FLJ31718", "FLJ41441", "abelson murine leukemia viral oncogene homolog 2", "abelson-related gene protein", "arg tyrosine kinase", "c-abl oncogene 2, non-receptor tyrosine kinase", "tyrosine-protein kinase ABL2", "tyrosine-protein kinase ARG", "v-abl Abelson murine leukemia viral oncogene homolog 2", "v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)" ], "secondaryIds": [ "RGD:1352263" ], "genomeLocations": [ { "strand": "-", "endPosition": 179229684, "chromosome": "1", "assembly": "GRCh38", "startPosition": 179099330 } ], "primaryId": "HGNC:77", "crossReferences": [ { "id": "ENSEMBL:ENSG00000143322" }, { "id": "NCBI_Gene:27" }, { "id": "PANTHER:PTHR24418" }, { "id": "UniProtKB:P42684" }, { "pages": [ "gene/references" ], "id": "RGD:1352263" }, { "pages": [ "gene" ], "id": "HGNC:77" }, { "id": "RGD:1352263" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABLIM1", "geneSynopsis": "This gene encodes a LIM zinc-binding domain-containing protein that binds to actin filaments and mediates interactions between actin and cytoplasmic targets. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2017]", "soTermId": "SO:0001217", "name": "actin binding LIM protein 1", "basicGeneticEntity": { "synonyms": [ "ABLIM", "DKFZp781D0148", "FLJ14564", "KIAA0059", "LIM actin-binding protein 1", "LIMAB1", "LIMATIN", "MGC1224", "abLIM-1", "actin-binding LIM protein 1", "actin-binding LIM protein family member 1", "actin-binding double zinc finger protein", "actin-binding double-zinc-finger protein" ], "secondaryIds": [ "RGD:1346152" ], "genomeLocations": [ { "strand": "-", "endPosition": 114801373, "chromosome": "10", "assembly": "GRCh38", "startPosition": 114431110 } ], "primaryId": "HGNC:78", "crossReferences": [ { "id": "ENSEMBL:ENSG00000099204" }, { "id": "NCBI_Gene:3983" }, { "id": "PANTHER:PTHR24213" }, { "id": "UniProtKB:O14639" }, { "pages": [ "gene/references" ], "id": "RGD:1346152" }, { "pages": [ "gene" ], "id": "HGNC:78" }, { "id": "RGD:1346152" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABLIM2", "geneSynopsis": "Predicted to enable actin filament binding activity. Predicted to be involved in lamellipodium assembly. Predicted to act upstream of or within positive regulation of transcription by RNA polymerase II. Located in actin cytoskeleton. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "actin binding LIM protein family member 2", "basicGeneticEntity": { "synonyms": [ "DKFZp761F129", "FLJ26534", "FLJ39684", "KIAA1808", "MGC141918", "abLIM-2", "actin binding LIM protein 2", "actin binding LIM protein family, member 2", "actin-binding LIM protein 2", "actin-binding LIM protein family member 2", "testis tissue sperm-binding protein Li 35a" ], "secondaryIds": [ "RGD:1349528" ], "genomeLocations": [ { "strand": "-", "endPosition": 8158832, "chromosome": "4", "assembly": "GRCh38", "startPosition": 7965310 } ], "primaryId": "HGNC:19195", "crossReferences": [ { "id": "ENSEMBL:ENSG00000163995" }, { "id": "NCBI_Gene:84448" }, { "id": "PANTHER:PTHR24213" }, { "id": "UniProtKB:Q6H8Q1" }, { "pages": [ "gene/references" ], "id": "RGD:1349528" }, { "pages": [ "gene" ], "id": "HGNC:19195" }, { "id": "RGD:1349528" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABLIM2-DT", "soTermId": "SO:0001263", "name": "ABLIM2 divergent transcript", "basicGeneticEntity": { "secondaryIds": [ "RGD:626469794" ], "primaryId": "HGNC:58727", "crossReferences": [ { "id": "NCBI_Gene:143433676" }, { "pages": [ "gene/references" ], "id": "RGD:626469794" }, { "pages": [ "gene" ], "id": "HGNC:58727" }, { "id": "RGD:626469794" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABLIM3", "geneSynopsis": "This gene encodes a member of the actin-binding LIM (abLIM) family of proteins. These proteins are characterized by an N-terminal LIM domain and a C-terminal dematin-like domain. The encoded protein interacts with actin filaments and may be a component of adherens junctions in several cell types. A variant of this gene may be associated with pain sensitivity in male human patients. [provided by RefSeq, Sep 2016]", "soTermId": "SO:0001217", "name": "actin binding LIM protein family member 3", "basicGeneticEntity": { "synonyms": [ "HMFN1661", "abLIM-3", "actin binding LIM protein family, member 3", "actin-binding LIM protein 3", "actin-binding LIM protein family member 3" ], "secondaryIds": [ "RGD:1354406" ], "genomeLocations": [ { "strand": "+", "endPosition": 149260542, "chromosome": "5", "assembly": "GRCh38", "startPosition": 149141483 } ], "primaryId": "HGNC:29132", "crossReferences": [ { "id": "ENSEMBL:ENSG00000173210" }, { "id": "NCBI_Gene:22885" }, { "id": "PANTHER:PTHR24213" }, { "id": "UniProtKB:O94929" }, { "pages": [ "gene/references" ], "id": "RGD:1354406" }, { "pages": [ "gene" ], "id": "HGNC:29132" }, { "id": "RGD:1354406" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABO", "geneSynopsis": "This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Apr 2022]", "soTermId": "SO:0001217", "name": "ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase", "basicGeneticEntity": { "synonyms": [ "A1-specific alpha 1-3-N-acetylgalactosaminyltransferase", "A3GALNT", "A3GALT1", "ABO A3 transferase", "ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase, transferase B, alpha 1-3-galactosyltransferase)", "ABO glycosyltransferase", "ABO weak transfer", "B(A) alpha-1,3-galactosyltransferase", "GTA", "GTB", "NAGAT", "Transferase", "fucosylglycoprotein", "fucosylglycoprotein 3-alpha-galactosyltransferase", "fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase", "glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase", "glycoprotein-fucosylgalactoside alpha-galactosyltransferase", "glycosyltransferase A", "glycosyltransferase B", "histo-blood group A transferase", "histo-blood group A2 transferase", "histo-blood group ABO system transferase", "histo-blood group B transferase", "transferase A" ], "secondaryIds": [ "RGD:730884" ], "genomeLocations": [ { "strand": "-", "endPosition": 133276024, "chromosome": "9", "assembly": "GRCh38", "startPosition": 133233278 } ], "primaryId": "HGNC:79", "crossReferences": [ { "id": "ENSEMBL:ENSG00000175164" }, { "id": "NCBI_Gene:28" }, { "id": "PANTHER:PTHR10462" }, { "id": "UniProtKB:P16442" }, { "pages": [ "gene/references" ], "id": "RGD:730884" }, { "pages": [ "gene" ], "id": "HGNC:79" }, { "id": "RGD:730884" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABR", "geneSynopsis": "This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]", "soTermId": "SO:0001217", "name": "ABR activator of RhoGEF and GTPase", "basicGeneticEntity": { "synonyms": [ "FLJ45954", "MDB", "active BCR-related", "active breakpoint cluster region-related protein" ], "secondaryIds": [ "RGD:1314808" ], "genomeLocations": [ { "strand": "-", "endPosition": 1229738, "chromosome": "17", "assembly": "GRCh38", "startPosition": 1003519 } ], "primaryId": "HGNC:81", "crossReferences": [ { "id": "ENSEMBL:ENSG00000276016" }, { "id": "ENSEMBL:ENSG00000159842" }, { "id": "ENSEMBL:ENSG00000278741" }, { "id": "NCBI_Gene:29" }, { "id": "PANTHER:PTHR23182" }, { "id": "UniProtKB:Q12979" }, { "pages": [ "gene/references" ], "id": "RGD:1314808" }, { "pages": [ "gene" ], "id": "HGNC:81" }, { "id": "RGD:1314808" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABR-AS1", "soTermId": "SO:0001263", "name": "ABR antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LOC105371479", "uncharacterized LOC105371479" ], "secondaryIds": [ "RGD:38674201" ], "genomeLocations": [ { "strand": "+", "endPosition": 1190361, "chromosome": "17", "assembly": "GRCh38", "startPosition": 1181627 } ], "primaryId": "HGNC:55674", "crossReferences": [ { "id": "NCBI_Gene:105371479" }, { "pages": [ "gene/references" ], "id": "RGD:38674201" }, { "pages": [ "gene" ], "id": "HGNC:55674" }, { "id": "RGD:38674201" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABRA", "geneSynopsis": "Predicted to enable actin binding activity. Predicted to be involved in actin cytoskeleton organization; positive regulation of Rho protein signal transduction; and positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of DNA-templated transcription and protein import into nucleus. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "actin binding Rho activating protein", "basicGeneticEntity": { "synonyms": [ "STARS", "actin-binding Rho-activating protein", "striated muscle activator of Rho-dependent signaling" ], "secondaryIds": [ "RGD:1603582" ], "genomeLocations": [ { "strand": "-", "endPosition": 106770244, "chromosome": "8", "assembly": "GRCh38", "startPosition": 106759483 } ], "primaryId": "HGNC:30655", "crossReferences": [ { "id": "ENSEMBL:ENSG00000174429" }, { "id": "NCBI_Gene:137735" }, { "id": "PANTHER:PTHR22739" }, { "id": "UniProtKB:Q8N0Z2" }, { "pages": [ "gene/references" ], "id": "RGD:1603582" }, { "pages": [ "gene" ], "id": "HGNC:30655" }, { "id": "RGD:1603582" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABRACL", "geneSynopsis": "Predicted to be involved in regulation of actin filament-based process. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ABRA C-terminal like", "basicGeneticEntity": { "synonyms": [ "ABRA C-terminal-like protein", "C6orf115", "Costars", "HSPC280", "PRO2013", "RP11-501K14.2", "costars family protein ABRACL", "costars family protein C6orf115", "hypothetical protein LOC58527" ], "secondaryIds": [ "RGD:1351168" ], "genomeLocations": [ { "strand": "+", "endPosition": 139043742, "chromosome": "6", "assembly": "GRCh38", "startPosition": 139027494 } ], "primaryId": "HGNC:21230", "crossReferences": [ { "id": "ENSEMBL:ENSG00000146386" }, { "id": "NCBI_Gene:58527" }, { "id": "PANTHER:PTHR46334" }, { "id": "UniProtKB:Q9P1F3" }, { "pages": [ "gene/references" ], "id": "RGD:1351168" }, { "pages": [ "gene" ], "id": "HGNC:21230" }, { "id": "RGD:1351168" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABRAXAS1", "geneSynopsis": "This gene encodes a protein that binds to the C-terminal repeats of breast cancer 1 (BRCA1) through a phospho-SXXF motif. The encoded protein recruits ubiquitin interaction motif containing 1 protein to BRCA1 protein and is required for DNA damage resistance, DNA repair, and cell cycle checkpoint control. Pseudogenes of this gene are found on chromosomes 3 and 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]", "soTermId": "SO:0001217", "name": "abraxas 1, BRCA1 A complex subunit", "basicGeneticEntity": { "synonyms": [ "ABRA1", "BRCA1-A complex subunit Abraxas", "BRCA1-A complex subunit Abraxas 1", "CCDC98", "FAM175A", "FLJ11520", "FLJ12642", "FLJ13614", "abraxas protein", "coiled-coil domain containing 98", "coiled-coil domain-containing protein 98", "family with sequence similarity 175 member A", "family with sequence similarity 175, member A" ], "secondaryIds": [ "RGD:1604576" ], "genomeLocations": [ { "strand": "-", "endPosition": 83523348, "chromosome": "4", "assembly": "GRCh38", "startPosition": 83459517 } ], "primaryId": "HGNC:25829", "crossReferences": [ { "id": "ENSEMBL:ENSG00000163322" }, { "id": "NCBI_Gene:84142" }, { "id": "PANTHER:PTHR31728" }, { "id": "UniProtKB:Q6UWZ7" }, { "pages": [ "gene/references" ], "id": "RGD:1604576" }, { "pages": [ "gene" ], "id": "HGNC:25829" }, { "id": "RGD:1604576" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABRAXAS1P1", "soTermId": "SO:0000336", "name": "ABRAXAS1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AC080014.1", "LOC100421580", "abraxas 1, BRCA1 A complex subunit pseudogene", "family with sequence similarity 175, member A (FAM175A) pseudogene" ], "secondaryIds": [ "RGD:16552023" ], "genomeLocations": [ { "strand": "-", "endPosition": 100912204, "chromosome": "3", "assembly": "GRCh38", "startPosition": 100910781 } ], "primaryId": "HGNC:56461", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213431" }, { "id": "NCBI_Gene:100421580" }, { "pages": [ "gene/references" ], "id": "RGD:16552023" }, { "pages": [ "gene" ], "id": "HGNC:56461" }, { "id": "RGD:16552023" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABRAXAS1P2", "soTermId": "SO:0000336", "name": "ABRAXAS1 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "LOC100133073", "abraxas 1, BRCA1 A complex subunit pseudogene" ], "secondaryIds": [ "RGD:38625270" ], "genomeLocations": [ { "strand": "-", "endPosition": 18089890, "chromosome": "8", "assembly": "GRCh38", "startPosition": 18088892 } ], "primaryId": "HGNC:56462", "crossReferences": [ { "id": "NCBI_Gene:100133073" }, { "pages": [ "gene/references" ], "id": "RGD:38625270" }, { "pages": [ "gene" ], "id": "HGNC:56462" }, { "id": "RGD:38625270" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABRAXAS2", "geneSynopsis": "Enables microtubule binding activity and polyubiquitin modification-dependent protein binding activity. Involved in nuclear chromosome segregation; protein K63-linked deubiquitination; and response to ischemia. Located in cytosol; microtubule cytoskeleton; and midbody. Part of BRISC complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "abraxas 2, BRISC complex subunit", "basicGeneticEntity": { "synonyms": [ "ABRO1", "BRISC complex subunit Abraxas 2", "BRISC complex subunit Abro1", "FAM175B", "FLJ22338", "KIAA0157", "abraxas brother 1", "abraxas brother protein 1", "family with sequence similarity 175 member B", "family with sequence similarity 175, member B" ], "secondaryIds": [ "RGD:1318962" ], "genomeLocations": [ { "strand": "+", "endPosition": 124836670, "chromosome": "10", "assembly": "GRCh38", "startPosition": 124801805 } ], "primaryId": "HGNC:28975", "crossReferences": [ { "id": "ENSEMBL:ENSG00000165660" }, { "id": "NCBI_Gene:23172" }, { "id": "PANTHER:PTHR31728" }, { "id": "UniProtKB:Q15018" }, { "pages": [ "gene/references" ], "id": "RGD:1318962" }, { "pages": [ "gene" ], "id": "HGNC:28975" }, { "id": "RGD:1318962" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABT1", "geneSynopsis": "Basal transcription of genes by RNA polymerase II requires the interaction of TATA-binding protein (TBP) with the core region of class II promoters. Studies in mouse suggest that the protein encoded by this gene likely activates basal transcription from class II promoters by interaction with TBP and the class II promoter DNA. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "activator of basal transcription 1", "basicGeneticEntity": { "synonyms": [ "Esf2", "TATA-binding protein-binding protein", "basal transcriptional activator", "hABT1" ], "secondaryIds": [ "RGD:1321888" ], "genomeLocations": [ { "strand": "+", "endPosition": 26600739, "chromosome": "6", "assembly": "GRCh38", "startPosition": 26596953 } ], "primaryId": "HGNC:17369", "crossReferences": [ { "id": "ENSEMBL:ENSG00000146109" }, { "id": "ENSEMBL:ENSG00000292169" }, { "id": "NCBI_Gene:29777" }, { "id": "PANTHER:PTHR12311" }, { "id": "UniProtKB:Q9ULW3" }, { "pages": [ "gene/references" ], "id": "RGD:1321888" }, { "pages": [ "gene" ], "id": "HGNC:17369" }, { "id": "RGD:1321888" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABT1P1", "soTermId": "SO:0000336", "name": "activator of basal transcription 1 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:5013939" ], "genomeLocations": [ { "strand": "-", "endPosition": 99023155, "chromosome": "4", "assembly": "GRCh38", "startPosition": 99022122 } ], "primaryId": "HGNC:39557", "crossReferences": [ { "id": "ENSEMBL:ENSG00000250496" }, { "id": "NCBI_Gene:100420695" }, { "pages": [ "gene/references" ], "id": "RGD:5013939" }, { "pages": [ "gene" ], "id": "HGNC:39557" }, { "id": "RGD:5013939" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABTB1", "geneSynopsis": "This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]", "soTermId": "SO:0001217", "name": "ankyrin repeat and BTB domain containing 1", "basicGeneticEntity": { "synonyms": [ "BPOZ", "BPOZ-2", "BTBD21", "Btb3", "EF1ABP", "MGC20585", "PP2259", "ankyrin repeat and BTB (POZ) domain containing 1", "ankyrin repeat and BTB/POZ domain-containing protein 1", "elongation factor 1A binding protein", "elongation factor 1A-binding protein" ], "secondaryIds": [ "RGD:1349137" ], "genomeLocations": [ { "strand": "+", "endPosition": 127680926, "chromosome": "3", "assembly": "GRCh38", "startPosition": 127672906 } ], "primaryId": "HGNC:18275", "crossReferences": [ { "id": "ENSEMBL:ENSG00000114626" }, { "id": "NCBI_Gene:80325" }, { "id": "PANTHER:PTHR46231" }, { "id": "UniProtKB:Q969K4" }, { "pages": [ "gene/references" ], "id": "RGD:1349137" }, { "pages": [ "gene" ], "id": "HGNC:18275" }, { "id": "RGD:1349137" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABTB2", "geneSynopsis": "Predicted to enable protein heterodimerization activity. Predicted to act upstream of or within cellular response to toxic substance. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat and BTB domain containing 2", "basicGeneticEntity": { "synonyms": [ "ABTB2A", "BTBD22", "CCA3", "DKFZp586C1619", "ankyrin repeat and BTB (POZ) domain containing 2", "ankyrin repeat and BTB/POZ domain-containing protein 2" ], "secondaryIds": [ "RGD:733617" ], "genomeLocations": [ { "strand": "-", "endPosition": 34358010, "chromosome": "11", "assembly": "GRCh38", "startPosition": 34150987 } ], "primaryId": "HGNC:23842", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166016" }, { "id": "NCBI_Gene:25841" }, { "id": "PANTHER:PTHR46071" }, { "id": "UniProtKB:Q8N961" }, { "pages": [ "gene/references" ], "id": "RGD:733617" }, { "pages": [ "gene" ], "id": "HGNC:23842" }, { "id": "RGD:733617" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ABTB3", "geneSynopsis": "Predicted to enable PDZ domain binding activity and protein heterodimerization activity. Predicted to act upstream of or within exploration behavior; glutamatergic synaptic transmission; and protein stabilization. Predicted to be located in glutamatergic synapse and membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat and BTB domain containing 3", "basicGeneticEntity": { "synonyms": [ "ABTB2B", "ANK-repeat BTB domain containing protein", "BTB (POZ) domain containing 11", "BTB domain containing 11", "BTB/POZ domain-containing protein 11", "BTBD11", "FLJ33957", "FLJ42845", "ankyrin repeat and BTB/POZ domain-containing protein 3", "ankyrin repeat and BTB/POZ domain-containing protein BTBD11", "ankyrin repeat- and BTB/POZ domain-containing protein 3" ], "secondaryIds": [ "RGD:1318539" ], "genomeLocations": [ { "strand": "+", "endPosition": 107659642, "chromosome": "12", "assembly": "GRCh38", "startPosition": 107318421 } ], "primaryId": "HGNC:23844", "crossReferences": [ { "id": "ENSEMBL:ENSG00000151136" }, { "id": "NCBI_Gene:121551" }, { "id": "PANTHER:PTHR46071" }, { "id": "UniProtKB:A6QL63" }, { "pages": [ "gene/references" ], "id": "RGD:1318539" }, { "pages": [ "gene" ], "id": "HGNC:23844" }, { "id": "RGD:1318539" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACAA1", "geneSynopsis": "This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "acetyl-CoA acyltransferase 1", "basicGeneticEntity": { "synonyms": [ "3-ketoacyl-CoA thiolase, peroxisomal", "ACAA", "Lnc-Myd88", "PTHIO", "THIO", "acetyl-CoA C-myristoyltransferase", "acetyl-Coenzyme A acyltransferase 1", "beta-ketothiolase", "peroxisomal 3-oxoacyl-CoA thiolase", "peroxisomal 3-oxoacyl-Coenzyme A thiolase", "testicular tissue protein Li 197" ], "secondaryIds": [ "RGD:69012" ], "genomeLocations": [ { "strand": "-", "endPosition": 38137647, "chromosome": "3", "assembly": "GRCh38", "startPosition": 38103129 } ], "primaryId": "HGNC:82", "crossReferences": [ { "id": "ENSEMBL:ENSG00000060971" }, { "id": "NCBI_Gene:30" }, { "id": "PANTHER:PTHR43853" }, { "id": "UniProtKB:P09110" }, { "pages": [ "gene/references" ], "id": "RGD:69012" }, { "pages": [ "gene" ], "id": "HGNC:82" }, { "id": "RGD:69012" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACAA2", "geneSynopsis": "The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "acetyl-CoA acyltransferase 2", "basicGeneticEntity": { "synonyms": [ "3-ketoacyl-CoA thiolase, mitochondrial", "DSAEC", "FLJ35992", "FLJ95265", "T1", "acetyl-CoA acetyltransferase", "acetyl-Coenzyme A acyltransferase 2", "acyl-CoA hydrolase, mitochondrial", "beta ketothiolase", "beta-ketothiolase", "mitochondrial 3-oxoacyl-CoA thiolase", "mitochondrial 3-oxoacyl-Coenzyme A thiolase" ], "secondaryIds": [ "RGD:733990" ], "genomeLocations": [ { "strand": "-", "endPosition": 49813953, "chromosome": "18", "assembly": "GRCh38", "startPosition": 49782164 } ], "primaryId": "HGNC:83", "crossReferences": [ { "id": "ENSEMBL:ENSG00000167315" }, { "id": "NCBI_Gene:10449" }, { "id": "PANTHER:PTHR18919" }, { "id": "UniProtKB:P42765" }, { "pages": [ "gene/references" ], "id": "RGD:733990" }, { "pages": [ "gene" ], "id": "HGNC:83" }, { "id": "RGD:733990" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACAA2P1", "geneSynopsis": "INTERACTS WITH okadaic acid", "soTermId": "SO:0000336", "name": "ACAA2 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AC231533.2", "LOC100420869", "acetyl-CoA acyltransferase 2 pseudogene", "acetyl-Coenzyme A acyltransferase 2 (mitochondrial 3-oxoacyl-Coenzyme A thiolase) (ACAA2) pseudogene" ], "secondaryIds": [ "RGD:16555670" ], "genomeLocations": [ { "strand": "-", "endPosition": 48776992, "chromosome": "X", "assembly": "GRCh38", "startPosition": 48775797 } ], "primaryId": "HGNC:55880", "crossReferences": [ { "id": "ENSEMBL:ENSG00000233585" }, { "id": "NCBI_Gene:100420869" }, { "pages": [ "gene/references" ], "id": "RGD:16555670" }, { "pages": [ "gene" ], "id": "HGNC:55880" }, { "id": "RGD:16555670" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACACA", "geneSynopsis": "Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "acetyl-CoA carboxylase alpha", "basicGeneticEntity": { "synonyms": [ "ACAC", "ACACAD", "ACACalpha", "ACC", "ACC-alpha", "ACC1", "ACCA", "ACCalpha", "Acac1", "acetyl-CoA carboxylase 1", "acetyl-CoA carboxylase-alpha", "acetyl-Coenzyme A carboxylase alpha", "hACC1" ], "secondaryIds": [ "RGD:736015" ], "genomeLocations": [ { "strand": "-", "endPosition": 37406836, "chromosome": "17", "assembly": "GRCh38", "startPosition": 37084992 } ], "primaryId": "HGNC:84", "crossReferences": [ { "id": "ENSEMBL:ENSG00000278540" }, { "id": "ENSEMBL:ENSG00000275176" }, { "id": "NCBI_Gene:31" }, { "id": "PANTHER:PTHR45728" }, { "id": "UniProtKB:Q13085" }, { "pages": [ "gene/references" ], "id": "RGD:736015" }, { "pages": [ "gene" ], "id": "HGNC:84" }, { "id": "RGD:736015" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACACB", "geneSynopsis": "Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. [provided by RefSeq, Oct 2022]", "soTermId": "SO:0001217", "name": "acetyl-CoA carboxylase beta", "basicGeneticEntity": { "synonyms": [ "ACACbeta", "ACC-beta", "ACC2", "ACCB", "ACCbeta", "HACC275", "acetyl-CoA carboxylase 2", "acetyl-Coenzyme A carboxylase beta" ], "secondaryIds": [ "RGD:731908" ], "genomeLocations": [ { "strand": "+", "endPosition": 109268226, "chromosome": "12", "assembly": "GRCh38", "startPosition": 109111189 } ], "primaryId": "HGNC:85", "crossReferences": [ { "id": "ENSEMBL:ENSG00000076555" }, { "id": "NCBI_Gene:32" }, { "id": "PANTHER:PTHR45728" }, { "id": "UniProtKB:O00763" }, { "pages": [ "gene/references" ], "id": "RGD:731908" }, { "pages": [ "gene" ], "id": "HGNC:85" }, { "id": "RGD:731908" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACAD10", "geneSynopsis": "This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes (ACADs), which participate in the beta-oxidation of fatty acids in mitochondria. The encoded enzyme contains a hydrolase domain at the N-terminal portion, a serine/threonine protein kinase catlytic domain in the central region, and a conserved ACAD domain at the C-terminus. 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, Nov 2008]", "soTermId": "SO:0001217", "name": "acyl-CoA dehydrogenase family member 10", "basicGeneticEntity": { "synonyms": [ "ACAD-10", "MGC5601", "acyl-CoA dehydrogenase family, member 10", "acyl-Coenzyme A dehydrogenase family, member 10" ], "secondaryIds": [ "RGD:1346668" ], "genomeLocations": [ { "strand": "+", "endPosition": 111757125, "chromosome": "12", "assembly": "GRCh38", "startPosition": 111686037 } ], "primaryId": "HGNC:21597", "crossReferences": [ { "id": "ENSEMBL:ENSG00000111271" }, { "id": "NCBI_Gene:80724" }, { "id": "PANTHER:PTHR47829" }, { "id": "UniProtKB:Q6JQN1" }, { "pages": [ "gene/references" ], "id": "RGD:1346668" }, { "pages": [ "gene" ], "id": "HGNC:21597" }, { "id": "RGD:1346668" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACAD11", "geneSynopsis": "This gene encodes an acyl-CoA dehydrogenase enzyme with a preference for carbon chain lengths between 20 and 26. Naturally occurring read-through transcription occurs between the upstream gene NPHP3 (nephronophthisis 3 (adolescent)) and this gene. [provided by RefSeq, Aug 2015]", "soTermId": "SO:0001217", "name": "acyl-CoA dehydrogenase family member 11", "basicGeneticEntity": { "synonyms": [ "62113 protein", "ACAD-11", "FLJ12592", "MGC150619", "acyl-CoA dehydrogenase family, member 11", "acyl-Coenzyme A dehydrogenase family, member 11", "putative acyl-CoA dehydrogenase" ], "secondaryIds": [ "RGD:1604580" ], "genomeLocations": [ { "strand": "-", "endPosition": 132660104, "chromosome": "3", "assembly": "GRCh38", "startPosition": 132558138 } ], "primaryId": "HGNC:30211", "crossReferences": [ { "id": "ENSEMBL:ENSG00000240303" }, { "id": "NCBI_Gene:84129" }, { "id": "PANTHER:PTHR48083" }, { "id": "UniProtKB:Q709F0" }, { "pages": [ "gene/references" ], "id": "RGD:1604580" }, { "pages": [ "gene" ], "id": "HGNC:30211" }, { "id": "RGD:1604580" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACAD8", "geneSynopsis": "This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009]", "soTermId": "SO:0001217", "name": "acyl-CoA dehydrogenase family member 8", "basicGeneticEntity": { "synonyms": [ "ACAD-8", "ARC42", "FLJ22590", "IBDH", "activator-recruited cofactor 42 kDa component", "acyl-CoA dehydrogenase family, member 8", "acyl-Coenzyme A dehydrogenase family, member 8", "isobutyryl-CoA dehydrogenase, mitochondrial" ], "secondaryIds": [ "RGD:1344764" ], "genomeLocations": [ { "strand": "+", "endPosition": 134265855, "chromosome": "11", "assembly": "GRCh38", "startPosition": 134253514 } ], "primaryId": "HGNC:87", "crossReferences": [ { "id": "ENSEMBL:ENSG00000151498" }, { "id": "NCBI_Gene:27034" }, { "id": "PANTHER:PTHR43831" }, { "id": "UniProtKB:Q9UKU7" }, { "pages": [ "gene/references" ], "id": "RGD:1344764" }, { "pages": [ "gene" ], "id": "HGNC:87" }, { "id": "RGD:1344764" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACAD9", "geneSynopsis": "This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]", "soTermId": "SO:0001217", "name": "acyl-CoA dehydrogenase family member 9", "basicGeneticEntity": { "synonyms": [ "ACAD-9", "FLJ23533", "MC1DN20", "MGC14452", "NPD002", "acyl-CoA dehydrogenase family member 9, mitochondrial", "acyl-CoA dehydrogenase family, member 9", "acyl-Coenzyme A dehydrogenase family, member 9", "complex I assembly factor ACAD9, mitochondrial", "very-long-chain acyl-CoA dehydrogenase VLCAD" ], "secondaryIds": [ "RGD:1348095" ], "genomeLocations": [ { "strand": "+", "endPosition": 128924003, "chromosome": "3", "assembly": "GRCh38", "startPosition": 128879596 } ], "primaryId": "HGNC:21497", "crossReferences": [ { "id": "ENSEMBL:ENSG00000177646" }, { "id": "NCBI_Gene:28976" }, { "id": "PANTHER:PTHR43884" }, { "id": "UniProtKB:Q9H845" }, { "pages": [ "gene/references" ], "id": "RGD:1348095" }, { "pages": [ "gene" ], "id": "HGNC:21497" }, { "id": "RGD:1348095" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACAD9-DT", "soTermId": "SO:0001263", "name": "ACAD9 divergent transcript", "basicGeneticEntity": { "secondaryIds": [ "RGD:150573756" ], "genomeLocations": [ { "strand": "-", "endPosition": 128879590, "chromosome": "3", "assembly": "GRCh38", "startPosition": 128854556 } ], "primaryId": "HGNC:56086", "crossReferences": [ { "id": "ENSEMBL:ENSG00000287110" }, { "id": "NCBI_Gene:123706524" }, { "pages": [ "gene/references" ], "id": "RGD:150573756" }, { "pages": [ "gene" ], "id": "HGNC:56086" }, { "id": "RGD:150573756" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACADL", "geneSynopsis": "The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "acyl-CoA dehydrogenase long chain", "basicGeneticEntity": { "synonyms": [ "ACAD4", "FLJ94052", "LCAD", "acetyl-coenzyme a dehydrogenase, long-chain", "acyl-CoA dehydrogenase, long chain", "acyl-Coenzyme A dehydrogenase, long chain", "long-chain acyl-CoA dehydrogenase", "long-chain specific acyl-CoA dehydrogenase, mitochondrial", "medium-chain acyl-CoA dehydrogenase, mitochondrial" ], "secondaryIds": [ "RGD:733759" ], "genomeLocations": [ { "strand": "-", "endPosition": 210225447, "chromosome": "2", "assembly": "GRCh38", "startPosition": 210187126 } ], "primaryId": "HGNC:88", "crossReferences": [ { "id": "ENSEMBL:ENSG00000115361" }, { "id": "NCBI_Gene:33" }, { "id": "PANTHER:PTHR48083" }, { "id": "UniProtKB:P28330" }, { "pages": [ "gene/references" ], "id": "RGD:733759" }, { "pages": [ "gene" ], "id": "HGNC:88" }, { "id": "RGD:733759" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACADM", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "acyl-CoA dehydrogenase medium chain", "basicGeneticEntity": { "synonyms": [ "ACAD1", "FLJ18227", "FLJ93013", "FLJ99884", "MCAD", "MCADH", "acetyl-coenzyme a dehydrogenase, medium chain", "acyl-CoA dehydrogenase C-4 to C-12 straight chain", "acyl-CoA dehydrogenase, C-4 to C-12 straight chain", "acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain", "medium-chain acyl-CoA dehydrogenase", "medium-chain specific acyl-CoA dehydrogenase, mitochondrial", "testicular tissue protein Li 7" ], "secondaryIds": [ "RGD:735259" ], "genomeLocations": [ { "strand": "+", "endPosition": 75787575, "chromosome": "1", "assembly": "GRCh38", "startPosition": 75724431 } ], "primaryId": "HGNC:89", "crossReferences": [ { "id": "ENSEMBL:ENSG00000117054" }, { "id": "NCBI_Gene:34" }, { "id": "PANTHER:PTHR48083" }, { "id": "UniProtKB:P11310" }, { "pages": [ "gene/references" ], "id": "RGD:735259" }, { "pages": [ "gene" ], "id": "HGNC:89" }, { "id": "RGD:735259" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACADS", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "acyl-CoA dehydrogenase short chain", "basicGeneticEntity": { "synonyms": [ "ACAD3", "SCAD", "acyl-CoA dehydrogenase, C-2 to C-3 short chain", "acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain", "butyryl-CoA dehydrogenase", "mitochondrial short-chain specific acyl-CoA dehydrogenase", "short chain acyl-coenzyme a dehydrogenase", "short-chain acyl-CoA dehydrogenase", "short-chain specific acyl-CoA dehydrogenase, mitochondrial", "unsaturated acyl-CoA reductase" ], "secondaryIds": [ "RGD:732202" ], "genomeLocations": [ { "strand": "+", "endPosition": 120740009, "chromosome": "12", "assembly": "GRCh38", "startPosition": 120725774 } ], "primaryId": "HGNC:90", "crossReferences": [ { "id": "ENSEMBL:ENSG00000122971" }, { "id": "NCBI_Gene:35" }, { "id": "PANTHER:PTHR43884" }, { "id": "UniProtKB:P16219" }, { "pages": [ "gene/references" ], "id": "RGD:732202" }, { "pages": [ "gene" ], "id": "HGNC:90" }, { "id": "RGD:732202" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACADSB", "geneSynopsis": "Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "acyl-CoA dehydrogenase short/branched chain", "basicGeneticEntity": { "synonyms": [ "2-MEBCAD", "2-methyl branched chain acyl-CoA dehydrogenase", "2-methylbutyryl-coenzyme A dehydrogenase", "ACAD7", "SBCAD", "acyl-CoA dehydrogenase, short/branched chain", "acyl-Coenzyme A dehydrogenase, short/branched chain", "short/branched chain specific acyl-CoA dehydrogenase, mitochondrial" ], "secondaryIds": [ "RGD:735869" ], "genomeLocations": [ { "strand": "+", "endPosition": 123058290, "chromosome": "10", "assembly": "GRCh38", "startPosition": 123008972 } ], "primaryId": "HGNC:91", "crossReferences": [ { "id": "ENSEMBL:ENSG00000196177" }, { "id": "NCBI_Gene:36" }, { "id": "PANTHER:PTHR43884" }, { "id": "UniProtKB:P45954" }, { "pages": [ "gene/references" ], "id": "RGD:735869" }, { "pages": [ "gene" ], "id": "HGNC:91" }, { "id": "RGD:735869" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACADVL", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "acyl-CoA dehydrogenase very long chain", "basicGeneticEntity": { "synonyms": [ "ACAD6", "LCACD", "VLCAD", "acyl-CoA dehydrogenase, very long chain", "acyl-Coenzyme A dehydrogenase, very long chain", "long-chain acyl-CoA dehydrogenase, mitochondrial", "very long-chain acyl-CoA dehydrogenase, mitochondrial", "very long-chain specific acyl-CoA dehydrogenase, mitochondrial" ], "secondaryIds": [ "RGD:735407" ], "genomeLocations": [ { "strand": "+", "endPosition": 7225269, "chromosome": "17", "assembly": "GRCh38", "startPosition": 7217125 } ], "primaryId": "HGNC:92", "crossReferences": [ { "id": "ENSEMBL:ENSG00000072778" }, { "id": "NCBI_Gene:37" }, { "id": "PANTHER:PTHR43884" }, { "id": "UniProtKB:P49748" }, { "pages": [ "gene/references" ], "id": "RGD:735407" }, { "pages": [ "gene" ], "id": "HGNC:92" }, { "id": "RGD:735407" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACAN", "geneSynopsis": "This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "aggrecan", "basicGeneticEntity": { "synonyms": [ "AGC1", "AGCAN", "CSPG1", "CSPGCP", "MSK16", "SEDK", "SSOAOD", "aggrecan 1", "aggrecan core protein", "cartilage-specific proteoglycan core protein", "chondroitin sulfate proteoglycan core protein 1", "large aggregating proteoglycan" ], "secondaryIds": [ "RGD:68507" ], "genomeLocations": [ { "strand": "+", "endPosition": 88875353, "chromosome": "15", "assembly": "GRCh38", "startPosition": 88803436 } ], "primaryId": "HGNC:319", "crossReferences": [ { "id": "ENSEMBL:ENSG00000157766" }, { "id": "NCBI_Gene:176" }, { "id": "PANTHER:PTHR22804" }, { "id": "UniProtKB:P16112" }, { "pages": [ "gene/references" ], "id": "RGD:68507" }, { "pages": [ "gene" ], "id": "HGNC:319" }, { "id": "RGD:68507" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACAP1", "geneSynopsis": "Predicted to enable GTPase activator activity and zinc ion binding activity. Predicted to be involved in protein transport. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ArfGAP with coiled-coil, ankyrin repeat and PH domains 1", "basicGeneticEntity": { "synonyms": [ "Arf GAP with coiled coil, ANK repeat and PH domains 1", "CENTB1", "KIAA0050", "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1", "centaurin, beta 1", "centaurin-beta-1", "cnt-b1" ], "secondaryIds": [ "RGD:1313339" ], "genomeLocations": [ { "strand": "+", "endPosition": 7351478, "chromosome": "17", "assembly": "GRCh38", "startPosition": 7332960 } ], "primaryId": "HGNC:16467", "crossReferences": [ { "id": "ENSEMBL:ENSG00000072818" }, { "id": "ENSEMBL:ENSG00000288169" }, { "id": "NCBI_Gene:9744" }, { "id": "PANTHER:PTHR23180" }, { "id": "UniProtKB:Q15027" }, { "pages": [ "gene/references" ], "id": "RGD:1313339" }, { "pages": [ "gene" ], "id": "HGNC:16467" }, { "id": "RGD:1313339" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACAP2", "geneSynopsis": "Enables GTPase activator activity. Acts upstream of or within actin filament-based process. Located in ruffle. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "ArfGAP with coiled-coil, ankyrin repeat and PH domains 2", "basicGeneticEntity": { "synonyms": [ "Arf GAP with coiled coil, ANK repeat and PH domains 2", "CENTB2", "CNT-B2", "KIAA0041", "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2", "centaurin, beta 2", "centaurin-beta-2" ], "secondaryIds": [ "RGD:1347120" ], "genomeLocations": [ { "strand": "-", "endPosition": 195443091, "chromosome": "3", "assembly": "GRCh38", "startPosition": 195274738 } ], "primaryId": "HGNC:16469", "crossReferences": [ { "id": "ENSEMBL:ENSG00000114331" }, { "id": "NCBI_Gene:23527" }, { "id": "PANTHER:PTHR23180" }, { "id": "UniProtKB:Q15057" }, { "pages": [ "gene/references" ], "id": "RGD:1347120" }, { "pages": [ "gene" ], "id": "HGNC:16469" }, { "id": "RGD:1347120" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACAP2-IT1", "geneSynopsis": "INTERACTS WITH GSK-J4; sodium arsenite", "soTermId": "SO:0001263", "name": "ACAP2 intronic transcript 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481025" ], "genomeLocations": [ { "strand": "-", "endPosition": 195282741, "chromosome": "3", "assembly": "GRCh38", "startPosition": 195280723 } ], "primaryId": "HGNC:41426", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229325" }, { "id": "NCBI_Gene:100874306" }, { "pages": [ "gene/references" ], "id": "RGD:6481025" }, { "pages": [ "gene" ], "id": "HGNC:41426" }, { "id": "RGD:6481025" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACAP3", "geneSynopsis": "Predicted to enable GTPase activator activity and zinc ion binding activity. Predicted to act upstream of or within neuron migration and regulation of neuron projection development. Predicted to be located in endosome membrane and growth cone. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ArfGAP with coiled-coil, ankyrin repeat and PH domains 3", "basicGeneticEntity": { "synonyms": [ "CENTB5", "KIAA1716", "arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3", "centaurin, beta 5", "centaurin-beta-5", "cnt-b5" ], "secondaryIds": [ "RGD:1321777" ], "genomeLocations": [ { "strand": "-", "endPosition": 1309609, "chromosome": "1", "assembly": "GRCh38", "startPosition": 1292376 } ], "primaryId": "HGNC:16754", "crossReferences": [ { "id": "ENSEMBL:ENSG00000131584" }, { "id": "NCBI_Gene:116983" }, { "id": "PANTHER:PTHR23180" }, { "id": "UniProtKB:Q96P50" }, { "pages": [ "gene/references" ], "id": "RGD:1321777" }, { "pages": [ "gene" ], "id": "HGNC:16754" }, { "id": "RGD:1321777" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACAT1", "geneSynopsis": "This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009]", "soTermId": "SO:0001217", "name": "acetyl-CoA acetyltransferase 1", "basicGeneticEntity": { "synonyms": [ "ACAT", "MAT", "T2", "THIL", "acetoacetyl Coenzyme A thiolase", "acetoacetyl-CoA thiolase", "acetyl-CoA acetyltransferase, mitochondrial", "acetyl-Coenzyme A acetyltransferase 1", "mitochondrial acetoacetyl-CoA thiolase", "testicular tissue protein Li 198" ], "secondaryIds": [ "RGD:737017" ], "genomeLocations": [ { "strand": "+", "endPosition": 108148957, "chromosome": "11", "assembly": "GRCh38", "startPosition": 108116695 } ], "primaryId": "HGNC:93", "crossReferences": [ { "id": "ENSEMBL:ENSG00000075239" }, { "id": "NCBI_Gene:38" }, { "id": "PANTHER:PTHR18919" }, { "id": "UniProtKB:P24752" }, { "pages": [ "gene/references" ], "id": "RGD:737017" }, { "pages": [ "gene" ], "id": "HGNC:93" }, { "id": "RGD:737017" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACAT2", "geneSynopsis": "The product of this gene is an enzyme involved in lipid metabolism, and it encodes cytosolic acetoacetyl-CoA thiolase. This gene shows complementary overlapping with the 3-prime region of the TCP1 gene in both mouse and human. These genes are encoded on opposite strands of DNA, as well as in opposite transcriptional orientation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]", "soTermId": "SO:0001217", "name": "acetyl-CoA acetyltransferase 2", "basicGeneticEntity": { "synonyms": [ "acetoacetyl Coenzyme A thiolase", "acetyl-CoA acetyltransferase, cytosolic", "acetyl-CoA transferase-like protein", "acetyl-Coenzyme A acetyltransferase 2", "acetyl-coenzyme a acetyltransferase 2 (acetoacetyl coenzyme a thiolase)", "cytosolic acetoacetyl-CoA thiolase" ], "secondaryIds": [ "RGD:1354229" ], "genomeLocations": [ { "strand": "+", "endPosition": 159779821, "chromosome": "6", "assembly": "GRCh38", "startPosition": 159761981 } ], "primaryId": "HGNC:94", "crossReferences": [ { "id": "ENSEMBL:ENSG00000120437" }, { "id": "NCBI_Gene:39" }, { "id": "PANTHER:PTHR18919" }, { "id": "UniProtKB:Q9BWD1" }, { "pages": [ "gene/references" ], "id": "RGD:1354229" }, { "pages": [ "gene" ], "id": "HGNC:94" }, { "id": "RGD:1354229" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACBD3", "geneSynopsis": "The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structure and function through its interaction with the integral membrane protein giantin. It may also be involved in the hormonal regulation of steroid formation. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "acyl-CoA binding domain containing 3", "basicGeneticEntity": { "synonyms": [ "GCP60", "GOCAP1", "GOLPH1", "Golgi resident protein GCP60", "PAP7", "PBR associated protein", "PBR- and PKA-associated protein 7", "PKA (RIalpha)-associated protein", "acyl-CoA-binding domain-containing protein 3", "acyl-Coenzyme A binding domain containing 3", "golgi complex associated protein 1, 60kDa", "golgi complex-associated protein 1", "golgi phosphoprotein 1", "peripheral benzodiazepine receptor-associated protein PAP7", "peripherial benzodiazepine receptor associated protein" ], "secondaryIds": [ "RGD:1348505" ], "genomeLocations": [ { "strand": "-", "endPosition": 226186762, "chromosome": "1", "assembly": "GRCh38", "startPosition": 226144679 } ], "primaryId": "HGNC:15453", "crossReferences": [ { "id": "ENSEMBL:ENSG00000182827" }, { "id": "NCBI_Gene:64746" }, { "id": "PANTHER:PTHR22973" }, { "id": "UniProtKB:Q9H3P7" }, { "pages": [ "gene/references" ], "id": "RGD:1348505" }, { "pages": [ "gene" ], "id": "HGNC:15453" }, { "id": "RGD:1348505" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACBD3-AS1", "geneSynopsis": "INTERACTS WITH dimethylselenide; hydroxyl; ozone", "soTermId": "SO:0001263", "name": "ACBD3 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:11562326" ], "genomeLocations": [ { "strand": "+", "endPosition": 226155071, "chromosome": "1", "assembly": "GRCh38", "startPosition": 226133245 } ], "primaryId": "HGNC:40701", "crossReferences": [ { "id": "ENSEMBL:ENSG00000234478" }, { "id": "NCBI_Gene:107985353" }, { "pages": [ "gene/references" ], "id": "RGD:11562326" }, { "pages": [ "gene" ], "id": "HGNC:40701" }, { "id": "RGD:11562326" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACBD4", "geneSynopsis": "This gene encodes a member of the acyl-coenzyme A binding domain containing protein family. All family members contain the conserved acyl-Coenzyme A binding domain, which binds acyl-CoA thiol esters. They are thought to play roles in acyl-CoA dependent lipid metabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]", "soTermId": "SO:0001217", "name": "acyl-CoA binding domain containing 4", "basicGeneticEntity": { "synonyms": [ "FLJ13322", "FLJ90623", "HMFT0700", "acyl-CoA-binding domain-containing protein 4", "acyl-Coenzyme A binding domain containing 4" ], "secondaryIds": [ "RGD:1318153" ], "genomeLocations": [ { "strand": "+", "endPosition": 45144181, "chromosome": "17", "assembly": "GRCh38", "startPosition": 45131597 } ], "primaryId": "HGNC:23337", "crossReferences": [ { "id": "ENSEMBL:ENSG00000181513" }, { "id": "NCBI_Gene:79777" }, { "id": "PANTHER:PTHR23310" }, { "id": "UniProtKB:Q8NC06" }, { "pages": [ "gene/references" ], "id": "RGD:1318153" }, { "pages": [ "gene" ], "id": "HGNC:23337" }, { "id": "RGD:1318153" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACBD5", "geneSynopsis": "This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]", "soTermId": "SO:0001217", "name": "acyl-CoA binding domain containing 5", "basicGeneticEntity": { "synonyms": [ "DKFZp434A2417", "KIAA1996", "RDLKD", "acyl-CoA-binding domain-containing protein 5", "acyl-Coenzyme A binding domain containing 5", "endozepine-related protein", "membrane-associated diazepam binding inhibitor" ], "secondaryIds": [ "RGD:1319743" ], "genomeLocations": [ { "strand": "-", "endPosition": 27243046, "chromosome": "10", "assembly": "GRCh38", "startPosition": 27168135 } ], "primaryId": "HGNC:23338", "crossReferences": [ { "id": "ENSEMBL:ENSG00000107897" }, { "id": "NCBI_Gene:91452" }, { "id": "PANTHER:PTHR23310" }, { "id": "UniProtKB:Q5T8D3" }, { "pages": [ "gene/references" ], "id": "RGD:1319743" }, { "pages": [ "gene" ], "id": "HGNC:23338" }, { "id": "RGD:1319743" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACBD6", "geneSynopsis": "Enables fatty-acyl-CoA binding activity. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "acyl-CoA binding domain containing 6", "basicGeneticEntity": { "synonyms": [ "MGC2404", "NEDPM", "acyl-CoA-binding domain-containing protein 6", "acyl-Coenzyme A binding domain containing 6" ], "secondaryIds": [ "RGD:1312817" ], "genomeLocations": [ { "strand": "-", "endPosition": 180502954, "chromosome": "1", "assembly": "GRCh38", "startPosition": 180269653 } ], "primaryId": "HGNC:23339", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230124" }, { "id": "NCBI_Gene:84320" }, { "id": "PANTHER:PTHR24119" }, { "id": "UniProtKB:Q9BR61" }, { "pages": [ "gene/references" ], "id": "RGD:1312817" }, { "pages": [ "gene" ], "id": "HGNC:23339" }, { "id": "RGD:1312817" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACBD7", "geneSynopsis": "Predicted to enable fatty-acyl-CoA binding activity. Predicted to be involved in fatty acid metabolic process. Predicted to act upstream of or within several processes, including energy homeostasis; leptin-mediated signaling pathway; and response to food. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "acyl-CoA binding domain containing 7", "basicGeneticEntity": { "synonyms": [ "FLJ38219", "FLJ52263", "MGC33893", "acyl-CoA-binding domain-containing protein 7", "acyl-Coenzyme A binding domain containing 7", "bA455B2.2" ], "secondaryIds": [ "RGD:1350250" ], "genomeLocations": [ { "strand": "-", "endPosition": 15088776, "chromosome": "10", "assembly": "GRCh38", "startPosition": 15075475 } ], "primaryId": "HGNC:17715", "crossReferences": [ { "id": "ENSEMBL:ENSG00000176244" }, { "id": "NCBI_Gene:414149" }, { "id": "PANTHER:PTHR23310" }, { "id": "UniProtKB:Q8N6N7" }, { "pages": [ "gene/references" ], "id": "RGD:1350250" }, { "pages": [ "gene" ], "id": "HGNC:17715" }, { "id": "RGD:1350250" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACBD7P1", "soTermId": "SO:0000336", "name": "ACBD7 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "APAF1 interacting protein pseudogene", "APIP pseudogene 1", "LOC100128086" ], "secondaryIds": [ "RGD:38601588" ], "genomeLocations": [ { "strand": "+", "endPosition": 107117907, "chromosome": "9", "assembly": "GRCh38", "startPosition": 107116752 } ], "primaryId": "HGNC:58659", "crossReferences": [ { "id": "NCBI_Gene:100128086" }, { "pages": [ "gene/references" ], "id": "RGD:38601588" }, { "pages": [ "gene" ], "id": "HGNC:58659" }, { "id": "RGD:38601588" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACCS", "geneSynopsis": "Enables identical protein binding activity. Predicted to be involved in amino acid metabolic process. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "1-aminocyclopropane-1-carboxylate synthase homolog (inactive)", "basicGeneticEntity": { "synonyms": [ "1-aminocyclopropane-1-carboxylate synthase-like protein (non-functional) isoform 1", "1-aminocyclopropane-1-carboxylate synthase-like protein (non-functional) isoform 2", "1-aminocyclopropane-1-carboxylate synthase-like protein (non-functional) isoform 4", "1-aminocyclopropane-1-carboxylate synthase-like protein 1", "ACC synthase-like protein 1", "ACS", "PHACS" ], "secondaryIds": [ "RGD:1606762" ], "genomeLocations": [ { "strand": "+", "endPosition": 44084241, "chromosome": "11", "assembly": "GRCh38", "startPosition": 44065916 } ], "primaryId": "HGNC:23989", "crossReferences": [ { "id": "ENSEMBL:ENSG00000110455" }, { "id": "NCBI_Gene:84680" }, { "id": "PANTHER:PTHR43795" }, { "id": "UniProtKB:Q96QU6" }, { "pages": [ "gene/references" ], "id": "RGD:1606762" }, { "pages": [ "gene" ], "id": "HGNC:23989" }, { "id": "RGD:1606762" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACCSL", "geneSynopsis": "Predicted to enable transaminase activity. Predicted to be involved in amino acid metabolic process. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "1-aminocyclopropane-1-carboxylate synthase homolog (inactive) like", "basicGeneticEntity": { "synonyms": [ "1-aminocyclopropane-1-carboxylate synthase (inactive)-like", "1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like", "1-aminocyclopropane-1-carboxylate synthase homolog(non-functional)-like", "1-aminocyclopropane-1-carboxylate synthase-like protein 2", "ACC synthase-like protein 2", "probable inactive 1-aminocyclopropane-1-carboxylate synthase-like protein 2", "putative inactive 1-aminocyclopropane-1-carboxylate synthase-like protein 2" ], "secondaryIds": [ "RGD:2302255" ], "genomeLocations": [ { "strand": "+", "endPosition": 44059977, "chromosome": "11", "assembly": "GRCh38", "startPosition": 43921068 } ], "primaryId": "HGNC:34391", "crossReferences": [ { "id": "ENSEMBL:ENSG00000205126" }, { "id": "NCBI_Gene:390110" }, { "id": "PANTHER:PTHR43795" }, { "id": "UniProtKB:Q4AC99" }, { "pages": [ "gene/references" ], "id": "RGD:2302255" }, { "pages": [ "gene" ], "id": "HGNC:34391" }, { "id": "RGD:2302255" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACCSLP1", "soTermId": "SO:0000336", "name": "ACCSL pseudogene 1", "basicGeneticEntity": { "synonyms": [ "1-aminocyclopropane-1-carboxylate synthase homolog (inactive) like pseudogene", "LOC100422646" ], "secondaryIds": [ "RGD:38639226" ], "genomeLocations": [ { "strand": "-", "endPosition": 7342555, "chromosome": "6", "assembly": "GRCh38", "startPosition": 7340744 } ], "primaryId": "HGNC:56899", "crossReferences": [ { "id": "NCBI_Gene:100422646" }, { "pages": [ "gene/references" ], "id": "RGD:38639226" }, { "pages": [ "gene" ], "id": "HGNC:56899" }, { "id": "RGD:38639226" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACD", "geneSynopsis": "This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ACD shelterin complex subunit and telomerase recruitment factor", "basicGeneticEntity": { "synonyms": [ "ACD, shelterin complex subunit and telomerase recruitment factor", "DKCA6", "DKCB7", "PIP1", "POT1 and TIN2 organizing protein", "POT1 and TIN2-interacting protein", "PTOP", "TIN2 interacting protein 1", "TINT1", "TPP1", "adrenocortical dysplasia homolog", "adrenocortical dysplasia homolog (mouse)", "adrenocortical dysplasia protein homolog" ], "secondaryIds": [ "RGD:1351362" ], "genomeLocations": [ { "strand": "-", "endPosition": 67660810, "chromosome": "16", "assembly": "GRCh38", "startPosition": 67657512 } ], "primaryId": "HGNC:25070", "crossReferences": [ { "id": "ENSEMBL:ENSG00000102977" }, { "id": "NCBI_Gene:65057" }, { "id": "PANTHER:PTHR14487" }, { "id": "UniProtKB:Q96AP0" }, { "pages": [ "gene/references" ], "id": "RGD:1351362" }, { "pages": [ "gene" ], "id": "HGNC:25070" }, { "id": "RGD:1351362" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACE", "geneSynopsis": "This gene encodes an enzyme involved in blood pressure regulation and electrolyte balance. It catalyzes the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This angiotensin converting enzyme (ACE) also inactivates the vasodilator protein, bradykinin. Accordingly, the encoded enzyme increases blood pressure and is a drug target of ACE inhibitors, which are often prescribed to reduce blood pressure. This enzyme additionally plays a role in fertility through its ability to cleave and release GPI-anchored membrane proteins in spermatozoa. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme. This polymorphism, as well as mutations in this gene, have been implicated in a wide variety of diseases including cardiovascular pathophysiologies, psoriasis, renal disease, stroke, and Alzheimer's disease. Regulation of the homologous ACE2 gene may be involved in progression of disease caused by several human coronaviruses, including SARS-CoV and SARS-CoV-2. Alternative splicing results in multiple transcript variants encoding both somatic (sACE) and male-specific testicular (tACE) isoforms. [provided by RefSeq, Sep 2020]", "soTermId": "SO:0001217", "name": "angiotensin I converting enzyme", "basicGeneticEntity": { "synonyms": [ "ACE1", "CD143", "CD143 antigen", "DCP", "DCP1", "ICH", "MGC26566", "MVCD3", "angiotensin 1 converting enzyme 1", "angiotensin I converting enzyme (peptidyl-dipeptidase A) 1", "angiotensin I converting enzyme peptidyl-dipeptidase A 1 transcript", "angiotensin converting enzyme, somatic isoform", "angiotensin-converting enzyme", "carboxycathepsin", "dipeptidyl carboxypeptidase 1", "dipeptidyl carboxypeptidase I", "kininase II", "peptidase P", "testicular ECA" ], "secondaryIds": [ "RGD:737323" ], "genomeLocations": [ { "strand": "+", "endPosition": 63498380, "chromosome": "17", "assembly": "GRCh38", "startPosition": 63477058 } ], "primaryId": "HGNC:2707", "crossReferences": [ { "id": "ENSEMBL:ENSG00000159640" }, { "id": "NCBI_Gene:1636" }, { "id": "PANTHER:PTHR10514" }, { "id": "UniProtKB:P12821" }, { "pages": [ "gene/references" ], "id": "RGD:737323" }, { "pages": [ "gene" ], "id": "HGNC:2707" }, { "id": "RGD:737323" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACE2", "geneSynopsis": "The protein encoded by this gene belongs to the angiotensin-converting enzyme family of dipeptidyl carboxydipeptidases and has considerable homology to human angiotensin 1 converting enzyme. This secreted protein catalyzes the cleavage of angiotensin I into angiotensin 1-9, and angiotensin II into the vasodilator angiotensin 1-7. ACE2 is known to be expressed in various human organs, and its organ- and cell-specific expression suggests that it may play a role in the regulation of cardiovascular and renal function, as well as fertility. In addition, the encoded protein is a functional receptor for the spike glycoprotein of the human coronavirus HCoV-NL63 and the human severe acute respiratory syndrome coronaviruses, SARS-CoV and SARS-CoV-2, the latter is the causative agent of coronavirus disease-2019 (COVID-19). Multiple splice variants have been found for this gene and the dACE2 (or MIRb-ACE2) splice variant has been found to be interferon inducible. [provided by RefSeq, Nov 2020]", "soTermId": "SO:0001217", "name": "angiotensin converting enzyme 2", "basicGeneticEntity": { "synonyms": [ "ACE-related carboxypeptidase", "ACEH", "DKFZp434A014", "angiotensin I converting enzyme (peptidyl-dipeptidase A) 2", "angiotensin I converting enzyme 2", "angiotensin-converting enzyme 2", "angiotensin-converting enzyme homolog", "angiotensin-converting enzyme-related carboxypeptidase", "metalloprotease MPROT15", "peptidyl-dipeptidase A", "truncated angiotensin converting enzyme 2" ], "secondaryIds": [ "RGD:1347174" ], "genomeLocations": [ { "strand": "-", "endPosition": 15607236, "chromosome": "X", "assembly": "GRCh38", "startPosition": 15494566 } ], "primaryId": "HGNC:13557", "crossReferences": [ { "id": "ENSEMBL:ENSG00000130234" }, { "id": "NCBI_Gene:59272" }, { "id": "PANTHER:PTHR10514" }, { "id": "UniProtKB:Q9BYF1" }, { "pages": [ "gene/references" ], "id": "RGD:1347174" }, { "pages": [ "gene" ], "id": "HGNC:13557" }, { "id": "RGD:1347174" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACE2-DT", "geneSynopsis": "INTERACTS WITH sodium arsenite", "soTermId": "SO:0001263", "name": "ACE2 divergent transcript", "basicGeneticEntity": { "synonyms": [ "AC097625.1", "GS1-594A7.3", "uncharacterized LOC104798195" ], "secondaryIds": [ "RGD:16553303" ], "genomeLocations": [ { "strand": "+", "endPosition": 15621485, "chromosome": "X", "assembly": "GRCh38", "startPosition": 15602858 } ], "primaryId": "HGNC:56255", "crossReferences": [ { "id": "ENSEMBL:ENSG00000225833" }, { "id": "NCBI_Gene:104798195" }, { "pages": [ "gene/references" ], "id": "RGD:16553303" }, { "pages": [ "gene" ], "id": "HGNC:56255" }, { "id": "RGD:16553303" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACE3P", "geneSynopsis": "Predicted to be located in acrosomal vesicle. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0000336", "name": "angiotensin I converting enzyme 3, pseudogene", "basicGeneticEntity": { "synonyms": [ "ACE3", "angiotensin I converting enzyme (peptidyl-dipeptidase A) 3, pseudogene" ], "secondaryIds": [ "RGD:6895289" ], "genomeLocations": [ { "strand": "+", "endPosition": 63519827, "chromosome": "17", "assembly": "GRCh38", "startPosition": 63507034 } ], "primaryId": "HGNC:44365", "crossReferences": [ { "id": "ENSEMBL:ENSG00000224353" }, { "id": "NCBI_Gene:100129123" }, { "pages": [ "gene/references" ], "id": "RGD:6895289" }, { "pages": [ "gene" ], "id": "HGNC:44365" }, { "id": "RGD:6895289" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACER1", "geneSynopsis": "Ceramides are synthesized during epidermal differentiation and accumulate within the interstices of the stratum corneum, where they represent critical components of the epidermal permeability barrier. Excess cellular ceramide can trigger antimitogenic signals and induce apoptosis, and the ceramide metabolites sphingosine and sphingosine-1-phosphate (S1P) are important bioregulatory molecules. Ceramide hydrolysis in the nucleated cell layers regulates keratinocyte proliferation and apoptosis in response to external stress. Ceramide hydrolysis also occurs at the stratum corneum, releasing free sphingoid base that functions as an endogenous antimicrobial agent. ACER1 is highly expressed in epidermis and catalyzes the hydrolysis of very long chain ceramides to generate sphingosine (Houben et al., 2006 [PubMed 16477081]; Sun et al., 2008 [PubMed 17713573]).[supplied by OMIM, Jul 2010]", "soTermId": "SO:0001217", "name": "alkaline ceramidase 1", "basicGeneticEntity": { "synonyms": [ "ALKCDase1", "ASAH3", "CTB-180A7.3", "MGC138327", "MGC138329", "N-acylsphingosine amidohydrolase (alkaline ceramidase) 3", "N-acylsphingosine amidohydrolase 3", "acylsphingosine deacylase 3", "alkCDase 1", "alkaline CDase 1" ], "secondaryIds": [ "RGD:1344470" ], "genomeLocations": [ { "strand": "-", "endPosition": 6360368, "chromosome": "19", "assembly": "GRCh38", "startPosition": 6306142 } ], "primaryId": "HGNC:18356", "crossReferences": [ { "id": "ENSEMBL:ENSG00000167769" }, { "id": "NCBI_Gene:125981" }, { "id": "PANTHER:PTHR46139" }, { "id": "UniProtKB:Q8TDN7" }, { "pages": [ "gene/references" ], "id": "RGD:1344470" }, { "pages": [ "gene" ], "id": "HGNC:18356" }, { "id": "RGD:1344470" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACER2", "geneSynopsis": "The sphingolipid metabolite sphingosine-1-phosphate promotes cell proliferation and survival, whereas its precursor, sphingosine, has the opposite effect. The ceramidase ACER2 hydrolyzes very long chain ceramides to generate sphingosine (Xu et al., 2006 [PubMed 16940153]).[supplied by OMIM, Jul 2010]", "soTermId": "SO:0001217", "name": "alkaline ceramidase 2", "basicGeneticEntity": { "synonyms": [ "ALKCDase2", "ASAH3L", "FLJ41587", "N-acylsphingosine amidohydrolase 3-like", "acylsphingosine deacylase 3-like", "alkCDase 2", "alkaline CDase 2", "ceramide hydrolase", "haCER2" ], "secondaryIds": [ "RGD:1312176" ], "genomeLocations": [ { "strand": "+", "endPosition": 19452505, "chromosome": "9", "assembly": "GRCh38", "startPosition": 19409009 } ], "primaryId": "HGNC:23675", "crossReferences": [ { "id": "ENSEMBL:ENSG00000177076" }, { "id": "NCBI_Gene:340485" }, { "id": "PANTHER:PTHR46139" }, { "id": "UniProtKB:Q5QJU3" }, { "pages": [ "gene/references" ], "id": "RGD:1312176" }, { "pages": [ "gene" ], "id": "HGNC:23675" }, { "id": "RGD:1312176" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACER2P1", "soTermId": "SO:0000336", "name": "ACER2 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AC017081.1", "N-acylsphingosine amidohydrolase 3-like (ASAH3L) pseudogene" ], "secondaryIds": [ "RGD:15044395" ], "genomeLocations": [ { "strand": "-", "endPosition": 206410985, "chromosome": "2", "assembly": "GRCh38", "startPosition": 206409887 } ], "primaryId": "HGNC:54674", "crossReferences": [ { "id": "ENSEMBL:ENSG00000180105" }, { "id": "NCBI_Gene:645978" }, { "pages": [ "gene/references" ], "id": "RGD:15044395" }, { "pages": [ "gene" ], "id": "HGNC:54674" }, { "id": "RGD:15044395" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACER3", "geneSynopsis": "Enables N-acylsphingosine amidohydrolase activity; calcium ion binding activity; and zinc ion binding activity. Involved in several processes, including myelination; positive regulation of cell population proliferation; and sphingolipid metabolic process. Located in Golgi membrane and endoplasmic reticulum membrane. Biomarker of hepatocellular carcinoma and metabolic dysfunction-associated steatohepatitis. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "alkaline ceramidase 3", "basicGeneticEntity": { "synonyms": [ "APHC", "FLJ11238", "PHCA", "PLDECO", "alkCDase 3", "alkaline CDase 3", "alkaline dihydroceramidase SB89", "alkaline phytoceramidase", "phytoceramidase, alkaline" ], "secondaryIds": [ "RGD:1346570" ], "genomeLocations": [ { "strand": "+", "endPosition": 77026797, "chromosome": "11", "assembly": "GRCh38", "startPosition": 76860859 } ], "primaryId": "HGNC:16066", "crossReferences": [ { "id": "ENSEMBL:ENSG00000078124" }, { "id": "NCBI_Gene:55331" }, { "id": "PANTHER:PTHR46187" }, { "id": "UniProtKB:Q9NUN7" }, { "pages": [ "gene/references" ], "id": "RGD:1346570" }, { "pages": [ "gene" ], "id": "HGNC:16066" }, { "id": "RGD:1346570" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACER3-AS1", "soTermId": "SO:0001263", "name": "ACER antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LOC124902721", "uncharacterized LOC124902721" ], "secondaryIds": [ "RGD:151670197" ], "genomeLocations": [ { "strand": "-", "endPosition": 77035684, "chromosome": "11", "assembly": "GRCh38", "startPosition": 76955546 } ], "primaryId": "HGNC:58067", "crossReferences": [ { "id": "NCBI_Gene:124902721" }, { "pages": [ "gene/references" ], "id": "RGD:151670197" }, { "pages": [ "gene" ], "id": "HGNC:58067" }, { "id": "RGD:151670197" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACHE", "geneSynopsis": "Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally. AChE activity may constitute a sensitive biomarker of RBC ageing in vivo, and thus, may be of aid in understanding the effects of transfusion[provided by RefSeq, Sep 2019]", "soTermId": "SO:0001217", "name": "acetylcholinesterase (Yt blood group)", "basicGeneticEntity": { "synonyms": [ "ACEE", "ARACHE", "N-ACHE", "YT", "Yt blood group", "acetylcholinesterase", "acetylcholinesterase (Cartwright blood group)", "apoptosis-related acetylcholinesterase" ], "secondaryIds": [ "RGD:735878" ], "genomeLocations": [ { "strand": "-", "endPosition": 100897022, "chromosome": "7", "assembly": "GRCh38", "startPosition": 100889994 } ], "primaryId": "HGNC:108", "crossReferences": [ { "id": "ENSEMBL:ENSG00000087085" }, { "id": "NCBI_Gene:43" }, { "id": "PANTHER:PTHR43918" }, { "id": "UniProtKB:P22303" }, { "pages": [ "gene/references" ], "id": "RGD:735878" }, { "pages": [ "gene" ], "id": "HGNC:108" }, { "id": "RGD:735878" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACIN1", "geneSynopsis": "Apoptosis is defined by several morphologic nuclear changes, including chromatin condensation and nuclear fragmentation. This gene encodes a nuclear protein that induces apoptotic chromatin condensation after activation by caspase-3, without inducing DNA fragmentation. This protein has also been shown to be a component of a splicing-dependent multiprotein exon junction complex (EJC) that is deposited at splice junctions on mRNAs, as a consequence of pre-mRNA splicing. It may thus be involved in mRNA metabolism associated with splicing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]", "soTermId": "SO:0001217", "name": "apoptotic chromatin condensation inducer 1", "basicGeneticEntity": { "synonyms": [ "ACINUS", "ACN", "DKFZp667N107", "KIAA0670", "apoptotic chromatin condensation inducer in the nucleus", "fSAP152", "functional spliceosome-associated protein 152" ], "secondaryIds": [ "RGD:1323663" ], "genomeLocations": [ { "strand": "-", "endPosition": 23095614, "chromosome": "14", "assembly": "GRCh38", "startPosition": 23058561 } ], "primaryId": "HGNC:17066", "crossReferences": [ { "id": "ENSEMBL:ENSG00000100813" }, { "id": "NCBI_Gene:22985" }, { "id": "PANTHER:PTHR46589" }, { "id": "UniProtKB:Q9UKV3" }, { "pages": [ "gene/references" ], "id": "RGD:1323663" }, { "pages": [ "gene" ], "id": "HGNC:17066" }, { "id": "RGD:1323663" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACKR1", "geneSynopsis": "The protein encoded by this gene is a glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "atypical chemokine receptor 1 (Duffy blood group)", "basicGeneticEntity": { "synonyms": [ "CCBP1", "CD234", "DARC", "DARC/ACKR1", "Dfy", "Duffy antigen chemokine receptor", "Duffy antigen receptor for chemokines", "Duffy antigen/chemokine receptor", "Duffy blood group antigen", "Duffy blood group, atypical chemokine receptor", "Duffy blood group, chemokine receptor", "FY", "Fy glycoprotein", "GPD", "GpFy", "WBCQ1", "atypical chemokine receptor 1", "duffy blood group chemokine receptor", "glycoprotein D", "plasmodium vivax receptor", "solute carrier family 29 member 1 (augustine blood group)" ], "secondaryIds": [ "RGD:1347611" ], "genomeLocations": [ { "strand": "+", "endPosition": 159206500, "chromosome": "1", "assembly": "GRCh38", "startPosition": 159204568 } ], "primaryId": "HGNC:4035", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213088" }, { "id": "NCBI_Gene:2532" }, { "id": "PANTHER:PTHR14181" }, { "id": "UniProtKB:Q16570" }, { "pages": [ "gene/references" ], "id": "RGD:1347611" }, { "pages": [ "gene" ], "id": "HGNC:4035" }, { "id": "RGD:1347611" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACKR2", "geneSynopsis": "This gene encodes a beta chemokine receptor, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptor-mediated signal transduction are critical for the recruitment of effector immune cells to the inflammation site. This gene is expressed in a range of tissues and hemopoietic cells. The expression of this receptor in lymphatic endothelial cells and overexpression in vascular tumors suggested its function in chemokine-driven recirculation of leukocytes and possible chemokine effects on the development and growth of vascular tumors. This receptor appears to bind the majority of beta-chemokine family members; however, its specific function remains unknown. This gene is mapped to chromosome 3p21.3, a region that includes a cluster of chemokine receptor genes. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "atypical chemokine receptor 2", "basicGeneticEntity": { "synonyms": [ "C-C chemokine receptor D6", "CC-chemokine-binding receptor JAB61", "CCBP2", "CCR10", "CCR9", "CMKBR9", "D6", "MGC126678", "MGC138250", "chemokine (C-C motif) receptor 9", "chemokine (C-C) receptor 9", "chemokine binding protein 2", "chemokine receptor CCR-10", "chemokine receptor CCR-9", "chemokine receptor D6", "chemokine-binding protein 2", "chemokine-binding protein D6", "hD6" ], "secondaryIds": [ "RGD:1353783" ], "genomeLocations": [ { "strand": "+", "endPosition": 42887974, "chromosome": "3", "assembly": "GRCh38", "startPosition": 42804586 } ], "primaryId": "HGNC:1565", "crossReferences": [ { "id": "ENSEMBL:ENSG00000144648" }, { "id": "NCBI_Gene:1238" }, { "id": "PANTHER:PTHR10489" }, { "id": "UniProtKB:O00590" }, { "pages": [ "gene/references" ], "id": "RGD:1353783" }, { "pages": [ "gene" ], "id": "HGNC:1565" }, { "id": "RGD:1353783" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACKR3", "geneSynopsis": "This gene encodes a member of the G-protein coupled receptor family. Although this protein was earlier thought to be a receptor for vasoactive intestinal peptide (VIP), it is now considered to be an orphan receptor, in that its endogenous ligand has not been identified. The protein is also a coreceptor for human immunodeficiency viruses (HIV). Translocations involving this gene and HMGA2 on chromosome 12 have been observed in lipomas. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "atypical chemokine receptor 3", "basicGeneticEntity": { "synonyms": [ "C-X-C chemokine receptor type 7", "CMKOR1", "CXC-R7", "CXCR-7", "CXCR7", "G protein-coupled receptor", "G-protein coupled receptor 159", "G-protein coupled receptor RDC1 homolog", "GPR159", "LOC105373991", "RDC-1", "RDC1", "chemokine (C-X-C motif) receptor 7", "chemokine orphan receptor 1", "uncharacterized LOC105373991" ], "secondaryIds": [ "RGD:1343702" ], "genomeLocations": [ { "strand": "+", "endPosition": 236582358, "chromosome": "2", "assembly": "GRCh38", "startPosition": 236537122 } ], "primaryId": "HGNC:23692", "crossReferences": [ { "id": "ENSEMBL:ENSG00000144476" }, { "id": "NCBI_Gene:57007" }, { "id": "PANTHER:PTHR24226" }, { "id": "UniProtKB:P25106" }, { "pages": [ "gene/references" ], "id": "RGD:1343702" }, { "pages": [ "gene" ], "id": "HGNC:23692" }, { "id": "RGD:1343702" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACKR4", "geneSynopsis": "The protein encoded by this gene is a member of the G protein-coupled receptor family, and is a receptor for C-C type chemokines. This receptor has been shown to bind dendritic cell- and T cell-activated chemokines including CCL19/ELC, CCL21/SLC, and CCL25/TECK. A pseudogene of this gene is found on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2013]", "soTermId": "SO:0001217", "name": "atypical chemokine receptor 4", "basicGeneticEntity": { "synonyms": [ "C-C CKR-11", "C-C chemokine receptor type 11", "CC chemokine receptor-like 1", "CC-CKR-11", "CCBP2", "CCR-11", "CCR10", "CCR11", "CCRL1", "CCX CKR", "CCX-CKR", "CKR-11", "PPR1", "VSHK1", "chemocentryx chemokine receptor", "chemokine (C-C motif) receptor-like 1", "chemokine, cc motif, receptor-like protein 1", "orphan seven-transmembrane receptor, chemokine related" ], "secondaryIds": [ "RGD:1602221" ], "genomeLocations": [ { "strand": "+", "endPosition": 132618967, "chromosome": "3", "assembly": "GRCh38", "startPosition": 132597270 } ], "primaryId": "HGNC:1611", "crossReferences": [ { "id": "ENSEMBL:ENSG00000129048" }, { "id": "NCBI_Gene:51554" }, { "id": "PANTHER:PTHR10489" }, { "id": "UniProtKB:Q9NPB9" }, { "pages": [ "gene/references" ], "id": "RGD:1602221" }, { "pages": [ "gene" ], "id": "HGNC:1611" }, { "id": "RGD:1602221" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACKR4P1", "soTermId": "SO:0000336", "name": "ACKR4 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "C-C motif chemokine receptor like 1 pseudogene 1", "CCRL1P", "CCRL1P1", "chemokine (C-C motif) receptor-like 1 pseudogene", "dJ509I19.4" ], "secondaryIds": [ "RGD:1343576" ], "genomeLocations": [ { "strand": "+", "endPosition": 138824563, "chromosome": "6", "assembly": "GRCh38", "startPosition": 138822707 } ], "primaryId": "HGNC:21142", "crossReferences": [ { "id": "ENSEMBL:ENSG00000225415" }, { "id": "NCBI_Gene:285737" }, { "pages": [ "gene/references" ], "id": "RGD:1343576" }, { "pages": [ "gene" ], "id": "HGNC:21142" }, { "id": "RGD:1343576" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACKR5", "geneSynopsis": "Adrenomedullin is a potent vasodilator peptide that exerts major effects on cardiovascular function. This gene encodes a seven-transmembrane protein that belongs to the family 1 of G-protein coupled receptors. Studies of the rat counterpart suggest that the encoded protein may function as a receptor for adrenomedullin. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "atypical chemokine receptor 5", "basicGeneticEntity": { "synonyms": [ "7TMR", "ADMR", "AM-R", "AMR", "G protein-coupled receptor 182", "G-protein coupled receptor 182", "G10D", "GPR182", "L1-R", "MGC34399", "adrenomedullin receptor", "gamrh", "hrhAMR" ], "secondaryIds": [ "RGD:736455" ], "genomeLocations": [ { "strand": "+", "endPosition": 56998889, "chromosome": "12", "assembly": "GRCh38", "startPosition": 56994492 } ], "primaryId": "HGNC:13708", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166856" }, { "id": "NCBI_Gene:11318" }, { "id": "PANTHER:PTHR24226" }, { "id": "UniProtKB:O15218" }, { "pages": [ "gene/references" ], "id": "RGD:736455" }, { "pages": [ "gene" ], "id": "HGNC:13708" }, { "id": "RGD:736455" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACLY", "geneSynopsis": "ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014]", "soTermId": "SO:0001217", "name": "ATP citrate lyase", "basicGeneticEntity": { "synonyms": [ "ACL", "ATP citrate synthase", "ATP-citrate (pro-S-)-lyase", "ATP-citrate synthase", "ATPCL", "CLATP", "citrate cleavage enzyme" ], "secondaryIds": [ "RGD:10065" ], "genomeLocations": [ { "strand": "-", "endPosition": 41930545, "chromosome": "17", "assembly": "GRCh38", "startPosition": 41866916 } ], "primaryId": "HGNC:115", "crossReferences": [ { "id": "ENSEMBL:ENSG00000131473" }, { "id": "NCBI_Gene:47" }, { "id": "PANTHER:PTHR23118" }, { "id": "UniProtKB:P53396" }, { "pages": [ "gene/references" ], "id": "RGD:10065" }, { "pages": [ "gene" ], "id": "HGNC:115" }, { "id": "RGD:10065" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACMSD", "geneSynopsis": "The neuronal excitotoxin quinolinate is an intermediate in the de novo synthesis pathway of NAD from tryptophan, and has been implicated in the pathogenesis of several neurodegenerative disorders. Quinolinate is derived from alpha-amino-beta-carboxy-muconate-epsilon-semialdehyde (ACMS). ACMSD (ACMS decarboxylase; EC 4.1.1.45) can divert ACMS to a benign catabolite and thus prevent the accumulation of quinolinate from ACMS.[supplied by OMIM, Oct 2004]", "soTermId": "SO:0001217", "name": "aminocarboxymuconate semialdehyde decarboxylase", "basicGeneticEntity": { "synonyms": [ "2-amino-3-carboxymuconate-6-semialdehyde decarboxylase", "picolinate carboxylase" ], "secondaryIds": [ "RGD:732597" ], "genomeLocations": [ { "strand": "+", "endPosition": 134902906, "chromosome": "2", "assembly": "GRCh38", "startPosition": 134838312 } ], "primaryId": "HGNC:19288", "crossReferences": [ { "id": "ENSEMBL:ENSG00000153086" }, { "id": "NCBI_Gene:130013" }, { "id": "PANTHER:PTHR21240" }, { "id": "UniProtKB:Q8TDX5" }, { "pages": [ "gene/references" ], "id": "RGD:732597" }, { "pages": [ "gene" ], "id": "HGNC:19288" }, { "id": "RGD:732597" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACNATP", "geneSynopsis": "INTERACTS WITH aflatoxin B1; benzo[a]pyrene; O-methyleugenol", "soTermId": "SO:0000336", "name": "acyl-CoA:amino acid N-acyltransferase, pseudogene", "basicGeneticEntity": { "synonyms": [ "BAATP1", "FLJ20300", "acyl-CoA:amino acid N-acyltransferase pseudogene", "bile acid-CoA: amino acid N-acyltransferase pseudogene 1", "bile acid-CoA:amino acid N-acyltransferase pseudogene 1" ], "secondaryIds": [ "RGD:4144528" ], "genomeLocations": [ { "strand": "-", "endPosition": 101339347, "chromosome": "9", "assembly": "GRCh38", "startPosition": 101334084 } ], "primaryId": "HGNC:34504", "crossReferences": [ { "id": "ENSEMBL:ENSG00000227411" }, { "id": "NCBI_Gene:347275" }, { "pages": [ "gene/references" ], "id": "RGD:4144528" }, { "pages": [ "gene" ], "id": "HGNC:34504" }, { "id": "RGD:4144528" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACO1", "geneSynopsis": "The protein encoded by this gene is a bifunctional, cytosolic protein that functions as an essential enzyme in the TCA cycle and interacts with mRNA to control the levels of iron inside cells. When cellular iron levels are high, this protein binds to a 4Fe-4S cluster and functions as an aconitase. Aconitases are iron-sulfur proteins that function to catalyze the conversion of citrate to isocitrate. When cellular iron levels are low, the protein binds to iron-responsive elements (IREs), which are stem-loop structures found in the 5' UTR of ferritin mRNA, and in the 3' UTR of transferrin receptor mRNA. When the protein binds to IRE, it results in repression of translation of ferritin mRNA, and inhibition of degradation of the otherwise rapidly degraded transferrin receptor mRNA. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jan 2014]", "soTermId": "SO:0001217", "name": "aconitase 1", "basicGeneticEntity": { "synonyms": [ "ACONS", "HEL60", "IRE-BP 1", "IREB1", "IREBP", "IREBP1", "IRP1", "aconitase 1, soluble", "aconitate hydratase", "aconitate hydratase, cytoplasmic", "citrate hydro-lyase", "cytoplasmic aconitase", "cytoplasmic aconitate hydratase", "cytosplasmic aconitase", "epididymis luminal protein 60", "ferritin repressor protein", "iron regulatory protein 1", "iron-responsive element binding protein 1", "iron-responsive element-binding protein", "iron-responsive element-binding protein 1", "soluble aconitase" ], "secondaryIds": [ "RGD:10067" ], "genomeLocations": [ { "strand": "+", "endPosition": 32454769, "chromosome": "9", "assembly": "GRCh38", "startPosition": 32384603 } ], "primaryId": "HGNC:117", "crossReferences": [ { "id": "ENSEMBL:ENSG00000122729" }, { "id": "NCBI_Gene:48" }, { "id": "PANTHER:PTHR11670" }, { "id": "UniProtKB:P21399" }, { "pages": [ "gene/references" ], "id": "RGD:10067" }, { "pages": [ "gene" ], "id": "HGNC:117" }, { "id": "RGD:10067" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACO2", "geneSynopsis": "The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "aconitase 2", "basicGeneticEntity": { "synonyms": [ "ACONM", "HEL-S-284", "ICRD", "MGC20605", "MGC33908", "OCA8", "OPA9", "aconitase 2, mitochondrial", "aconitate hydratase, mitochondrial", "citrate hydro-lyase", "epididymis secretory sperm binding protein Li 284", "mitochondrial aconitase", "mitochondrial aconitase (nuclear aco2 gene)" ], "secondaryIds": [ "RGD:733187" ], "genomeLocations": [ { "strand": "+", "endPosition": 41529273, "chromosome": "22", "assembly": "GRCh38", "startPosition": 41447830 } ], "primaryId": "HGNC:118", "crossReferences": [ { "id": "ENSEMBL:ENSG00000100412" }, { "id": "NCBI_Gene:50" }, { "id": "PANTHER:PTHR43160" }, { "id": "UniProtKB:Q99798" }, { "pages": [ "gene/references" ], "id": "RGD:733187" }, { "pages": [ "gene" ], "id": "HGNC:118" }, { "id": "RGD:733187" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACO2P1", "soTermId": "SO:0000336", "name": "ACO2 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AL021877.1", "LOC441996", "aconitase 2, mitochondrial (ACO2) pseudogene", "aconitase 2, mitochondrial pseudogene" ], "secondaryIds": [ "RGD:16556237" ], "genomeLocations": [ { "strand": "-", "endPosition": 34591301, "chromosome": "22", "assembly": "GRCh38", "startPosition": 34588754 } ], "primaryId": "HGNC:56989", "crossReferences": [ { "id": "ENSEMBL:ENSG00000235485" }, { "id": "NCBI_Gene:441996" }, { "pages": [ "gene/references" ], "id": "RGD:16556237" }, { "pages": [ "gene" ], "id": "HGNC:56989" }, { "id": "RGD:16556237" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACO2P2", "soTermId": "SO:0000336", "name": "ACO2 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "LOC343508", "aconitase 2, mitochondrial pseudogene" ], "secondaryIds": [ "RGD:38628316" ], "genomeLocations": [ { "strand": "+", "endPosition": 236112569, "chromosome": "1", "assembly": "GRCh38", "startPosition": 236110820 } ], "primaryId": "HGNC:56990", "crossReferences": [ { "id": "NCBI_Gene:343508" }, { "pages": [ "gene/references" ], "id": "RGD:38628316" }, { "pages": [ "gene" ], "id": "HGNC:56990" }, { "id": "RGD:38628316" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACOD1", "geneSynopsis": "Enables aconitate decarboxylase activity and protein homodimerization activity. Involved in defense response; positive regulation of antimicrobial humoral response; and tolerance induction to lipopolysaccharide. Predicted to be active in mitochondrion. Biomarker of esophageal carcinoma and head and neck squamous cell carcinoma. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "aconitate decarboxylase 1", "basicGeneticEntity": { "synonyms": [ "CAD", "IRG1", "aconitate decarboxylase", "cis-aconitate decarboxylase", "cis-aconitic acid decarboxylase", "immune-responsive gene 1 protein homolog", "immunoresponsive 1 homolog" ], "secondaryIds": [ "RGD:2292071" ], "genomeLocations": [ { "strand": "+", "endPosition": 76958638, "chromosome": "13", "assembly": "GRCh38", "startPosition": 76948511 } ], "primaryId": "HGNC:33904", "crossReferences": [ { "id": "ENSEMBL:ENSG00000102794" }, { "id": "NCBI_Gene:730249" }, { "id": "PANTHER:PTHR16943" }, { "id": "UniProtKB:A6NK06" }, { "pages": [ "gene/references" ], "id": "RGD:2292071" }, { "pages": [ "gene" ], "id": "HGNC:33904" }, { "id": "RGD:2292071" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACOT1", "geneSynopsis": "Enables fatty acyl-CoA hydrolase activity. Involved in acyl-CoA metabolic process; long-chain fatty acid metabolic process; and very long-chain fatty acid metabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "acyl-CoA thioesterase 1", "basicGeneticEntity": { "synonyms": [ "ACH2", "CTE-1", "CTE-I", "CTE-Ib", "LACH2", "acyl-coenzyme A thioesterase 1", "inducible cytosolic acyl-coenzyme A thioester hydrolase", "long chain acyl-CoA hydrolase", "long chain acyl-CoA thioester hydrolase", "palmitoyl-coenzyme A thioesterase" ], "secondaryIds": [ "RGD:1605748" ], "genomeLocations": [ { "strand": "+", "endPosition": 73543796, "chromosome": "14", "assembly": "GRCh38", "startPosition": 73490933 } ], "primaryId": "HGNC:33128", "crossReferences": [ { "id": "ENSEMBL:ENSG00000184227" }, { "id": "NCBI_Gene:641371" }, { "id": "PANTHER:PTHR10824" }, { "id": "UniProtKB:Q86TX2" }, { "pages": [ "gene/references" ], "id": "RGD:1605748" }, { "pages": [ "gene" ], "id": "HGNC:33128" }, { "id": "RGD:1605748" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACOT11", "geneSynopsis": "This gene encodes a member of the acyl-CoA thioesterase family which catalyse the conversion of activated fatty acids to the corresponding non-esterified fatty acid and coenzyme A. Expression of a mouse homolog in brown adipose tissue is induced by low temperatures and repressed by warm temperatures. Higher levels of expression of the mouse homolog has been found in obesity-resistant mice compared with obesity-prone mice, suggesting a role of acyl-CoA thioesterase 11 in obesity. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]", "soTermId": "SO:0001217", "name": "acyl-CoA thioesterase 11", "basicGeneticEntity": { "synonyms": [ "BFIT", "BFIT1", "BFIT2", "DKFZp667O1916", "KIAA0707", "STARD14", "START domain containing 14", "StAR-related lipid transfer (START) domain containing 14", "THEA", "THEM1", "acyl-CoA thioester hydrolase 11", "acyl-coenzyme A thioesterase 11", "adipose-associated thioesterase", "brown fat inducible thioesterase", "brown fat-inducible thioesterase", "palmitoyl-coenzyme A thioesterase", "thioesterase superfamily member 1", "thioesterase, adipose associated" ], "secondaryIds": [ "RGD:1317612" ], "genomeLocations": [ { "strand": "+", "endPosition": 54639192, "chromosome": "1", "assembly": "GRCh38", "startPosition": 54542257 } ], "primaryId": "HGNC:18156", "crossReferences": [ { "id": "ENSEMBL:ENSG00000162390" }, { "id": "NCBI_Gene:26027" }, { "id": "PANTHER:PTHR11049" }, { "id": "UniProtKB:Q8WXI4" }, { "pages": [ "gene/references" ], "id": "RGD:1317612" }, { "pages": [ "gene" ], "id": "HGNC:18156" }, { "id": "RGD:1317612" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACOT12", "geneSynopsis": "Enables identical protein binding activity. Predicted to be involved in acetyl-CoA metabolic process. Located in cytosol; intercellular bridge; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "acyl-CoA thioesterase 12", "basicGeneticEntity": { "synonyms": [ "CACH-1", "Cach", "MGC105114", "STARD15", "START domain-containing protein 15", "StAR-related lipid transfer (START) domain containing 15", "THEAL", "acetyl-coenzyme A thioesterase", "acyl-CoA thioester hydrolase 12", "acyl-coenzyme A thioesterase 12", "cytoplasmic acetyl-CoA hydrolase 1", "cytoplasmic acetyl-coa hydrolase", "cytosolic acetyl-CoA hydrolase", "hCACH-1" ], "secondaryIds": [ "RGD:736721" ], "genomeLocations": [ { "strand": "-", "endPosition": 81394191, "chromosome": "5", "assembly": "GRCh38", "startPosition": 81308609 } ], "primaryId": "HGNC:24436", "crossReferences": [ { "id": "ENSEMBL:ENSG00000172497" }, { "id": "NCBI_Gene:134526" }, { "id": "PANTHER:PTHR11049" }, { "id": "UniProtKB:Q8WYK0" }, { "pages": [ "gene/references" ], "id": "RGD:736721" }, { "pages": [ "gene" ], "id": "HGNC:24436" }, { "id": "RGD:736721" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACOT12-DT", "soTermId": "SO:0001263", "name": "ACOT12 divergent transcript", "basicGeneticEntity": { "secondaryIds": [ "RGD:631142741" ], "primaryId": "HGNC:59089", "crossReferences": [ { "id": "NCBI_Gene:144717126" }, { "pages": [ "gene/references" ], "id": "RGD:631142741" }, { "pages": [ "gene" ], "id": "HGNC:59089" }, { "id": "RGD:631142741" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACOT13", "geneSynopsis": "This gene encodes a member of the thioesterase superfamily. In humans, the protein co-localizes with microtubules and is essential for sustained cell proliferation. The orthologous mouse protein forms a homotetramer and is associated with mitochondria. The mouse protein functions as a medium- and long-chain acyl-CoA thioesterase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2009]", "soTermId": "SO:0001217", "name": "acyl-CoA thioesterase 13", "basicGeneticEntity": { "synonyms": [ "HT012", "MGC4961", "PNAS-27", "THEM2", "acyl-coenzyme A thioesterase 13", "hotdog-fold thioesterase superfamily member 2", "hypothalamus protein HT012", "palmitoyl-CoA hydrolase", "thioesterase superfamily member 2" ], "secondaryIds": [ "RGD:1315172" ], "genomeLocations": [ { "strand": "+", "endPosition": 24705065, "chromosome": "6", "assembly": "GRCh38", "startPosition": 24666921 } ], "primaryId": "HGNC:20999", "crossReferences": [ { "id": "ENSEMBL:ENSG00000112304" }, { "id": "NCBI_Gene:55856" }, { "id": "PANTHER:PTHR21660" }, { "id": "UniProtKB:Q9NPJ3" }, { "pages": [ "gene/references" ], "id": "RGD:1315172" }, { "pages": [ "gene" ], "id": "HGNC:20999" }, { "id": "RGD:1315172" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACOT2", "geneSynopsis": "This gene encodes a member of the acyl-CoA thioesterase protein family, and is one of four acyl-CoA hydrolase genes located in a cluster on chromosome 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]", "soTermId": "SO:0001217", "name": "acyl-CoA thioesterase 2", "basicGeneticEntity": { "synonyms": [ "CTE-IA", "CTE1A", "MTE1", "PTE2", "PTE2A", "ZAP128", "acyl-coenzyme A thioester hydrolase 2a", "acyl-coenzyme A thioesterase 2, mitochondrial", "long-chain acyl-CoA thioesterase 2", "mitochondrial acyl-CoA thioesterase 1", "mitochondrial acyl-CoA thioesterase 2", "peroxisomal long-chain acyl-coA thioesterase 2" ], "secondaryIds": [ "RGD:1605691" ], "genomeLocations": [ { "strand": "+", "endPosition": 73575658, "chromosome": "14", "assembly": "GRCh38", "startPosition": 73567620 } ], "primaryId": "HGNC:18431", "crossReferences": [ { "id": "ENSEMBL:ENSG00000119673" }, { "id": "NCBI_Gene:10965" }, { "id": "PANTHER:PTHR10824" }, { "id": "UniProtKB:P49753" }, { "pages": [ "gene/references" ], "id": "RGD:1605691" }, { "pages": [ "gene" ], "id": "HGNC:18431" }, { "id": "RGD:1605691" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACOT4", "geneSynopsis": "Enables fatty acyl-CoA hydrolase activity and succinyl-CoA hydrolase activity. Involved in carboxylic acid metabolic process and succinyl-CoA metabolic process. Located in peroxisome. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "acyl-CoA thioesterase 4", "basicGeneticEntity": { "synonyms": [ "PTE-2b", "PTE-Ib", "PTE1B", "PTE2B", "acyl-coenzyme A thioesterase 4", "peroxisomal acyl coenzyme A thioester hydrolase Ib", "peroxisomal acyl-CoA thioesterase 2B", "peroxisomal long-chain acyl-CoA thioesterase Ib", "peroxisomal succinyl-coenzyme A thioesterase" ], "secondaryIds": [ "RGD:1605006" ], "genomeLocations": [ { "strand": "+", "endPosition": 73595766, "chromosome": "14", "assembly": "GRCh38", "startPosition": 73591873 } ], "primaryId": "HGNC:19748", "crossReferences": [ { "id": "ENSEMBL:ENSG00000177465" }, { "id": "NCBI_Gene:122970" }, { "id": "PANTHER:PTHR10824" }, { "id": "UniProtKB:Q8N9L9" }, { "pages": [ "gene/references" ], "id": "RGD:1605006" }, { "pages": [ "gene" ], "id": "HGNC:19748" }, { "id": "RGD:1605006" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACOT4P1", "soTermId": "SO:0000336", "name": "ACOT4 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "LOC644189", "acyl-CoA thioesterase 4 pseudogene" ], "secondaryIds": [ "RGD:38618718" ], "genomeLocations": [ { "strand": "+", "endPosition": 36422897, "chromosome": "19", "assembly": "GRCh38", "startPosition": 36421174 } ], "primaryId": "HGNC:58578", "crossReferences": [ { "id": "NCBI_Gene:644189" }, { "pages": [ "gene/references" ], "id": "RGD:38618718" }, { "pages": [ "gene" ], "id": "HGNC:58578" }, { "id": "RGD:38618718" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACOT6", "geneSynopsis": "Predicted to enable fatty acyl-CoA hydrolase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid metabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "acyl-CoA thioesterase 6", "basicGeneticEntity": { "synonyms": [ "C14orf42", "MGC161656", "MGC161658", "acyl-coenzyme A thioesterase 6", "c14_5530", "chromosome 14 open reading frame 42", "putative acyl-CoA thioesterase 6", "putative acyl-coenzyme A thioesterase 6" ], "secondaryIds": [ "RGD:1605747" ], "genomeLocations": [ { "strand": "+", "endPosition": 73619888, "chromosome": "14", "assembly": "GRCh38", "startPosition": 73610945 } ], "primaryId": "HGNC:33159", "crossReferences": [ { "id": "ENSEMBL:ENSG00000205669" }, { "id": "NCBI_Gene:641372" }, { "id": "PANTHER:PTHR10824" }, { "id": "UniProtKB:Q3I5F7" }, { "pages": [ "gene/references" ], "id": "RGD:1605747" }, { "pages": [ "gene" ], "id": "HGNC:33159" }, { "id": "RGD:1605747" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACOT7", "geneSynopsis": "This gene encodes a member of the acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "acyl-CoA thioesterase 7", "basicGeneticEntity": { "synonyms": [ "ACH1", "ACT", "BACH", "CTE-II", "CTE-IIa", "LACH", "LACH1", "MGC1126", "RP1-120G22.10", "acyl-CoA thioesterase 2", "acyl-CoA thioesterase, long chain", "brain acyl CoA hydrolase", "brain acyl-CoA hydrolase", "cytosolic acyl coenzyme A thioester hydrolase", "hBACH", "long chain acyl-CoA thioester hydrolase" ], "secondaryIds": [ "RGD:733878" ], "genomeLocations": [ { "strand": "-", "endPosition": 6393767, "chromosome": "1", "assembly": "GRCh38", "startPosition": 6264268 } ], "primaryId": "HGNC:24157", "crossReferences": [ { "id": "ENSEMBL:ENSG00000097021" }, { "id": "NCBI_Gene:11332" }, { "id": "PANTHER:PTHR11049" }, { "id": "UniProtKB:O00154" }, { "pages": [ "gene/references" ], "id": "RGD:733878" }, { "pages": [ "gene" ], "id": "HGNC:24157" }, { "id": "RGD:733878" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACOT8", "geneSynopsis": "The protein encoded by this gene is a peroxisomal thioesterase that appears to be involved more in the oxidation of fatty acids rather than in their formation. The encoded protein can bind to the human immunodeficiency virus-1 protein Nef, and mediate Nef-induced down-regulation of CD4 in T-cells. [provided by RefSeq, Oct 2010]", "soTermId": "SO:0001217", "name": "acyl-CoA thioesterase 8", "basicGeneticEntity": { "synonyms": [ "4,8-dimethylnonanoyl-coa thioesterase", "HIV-Nef associated acyl-CoA thioesterase", "HIV-Nef-associated acyl-CoA thioesterase", "HNAACTE", "NAP1", "Nef (lentivirus myristoylated factor) associated protein 1", "PTE-1", "PTE-2", "PTE1", "PTE2", "acyl-coenzyme A thioesterase 8", "choloyl-CoA hydrolase", "choloyl-coenzyme A thioesterase", "hACTE-III", "hACTEIII", "hTE", "long-chain fatty-acyl-CoA hydrolase", "palmitoyl-CoA hydrolase", "peroxisomal acyl-CoA thioesterase 1", "peroxisomal acyl-CoA thioesterase 2", "peroxisomal acyl-coenzyme A thioester hydrolase 1", "peroxisomal long-chain acyl-CoA thioesterase 1", "thioesterase II", "thioesterase III" ], "secondaryIds": [ "RGD:70372" ], "genomeLocations": [ { "strand": "-", "endPosition": 45857405, "chromosome": "20", "assembly": "GRCh38", "startPosition": 45841709 } ], "primaryId": "HGNC:15919", "crossReferences": [ { "id": "ENSEMBL:ENSG00000101473" }, { "id": "NCBI_Gene:10005" }, { "id": "PANTHER:PTHR11066" }, { "id": "UniProtKB:O14734" }, { "pages": [ "gene/references" ], "id": "RGD:70372" }, { "pages": [ "gene" ], "id": "HGNC:15919" }, { "id": "RGD:70372" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACOT9", "geneSynopsis": "The protein encoded by this gene is a mitochondrial acyl-CoA thioesterase of unknown function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]", "soTermId": "SO:0001217", "name": "acyl-CoA thioesterase 9", "basicGeneticEntity": { "synonyms": [ "ACATE2", "CGI-16", "MT-ACT48", "MTACT48", "acyl-CoA thioester hydrolase 9", "acyl-Coenzyme A thioesterase 2, mitochondrial", "acyl-coenzyme A thioesterase 9, mitochondrial", "mitochondrial Acyl-CoA Thioesterase" ], "secondaryIds": [ "RGD:1606811" ], "genomeLocations": [ { "strand": "-", "endPosition": 23766475, "chromosome": "X", "assembly": "GRCh38", "startPosition": 23699396 } ], "primaryId": "HGNC:17152", "crossReferences": [ { "id": "ENSEMBL:ENSG00000123130" }, { "id": "NCBI_Gene:23597" }, { "id": "PANTHER:PTHR12655" }, { "id": "UniProtKB:Q9Y305" }, { "pages": [ "gene/references" ], "id": "RGD:1606811" }, { "pages": [ "gene" ], "id": "HGNC:17152" }, { "id": "RGD:1606811" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACOX1", "geneSynopsis": "The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "acyl-CoA oxidase 1", "basicGeneticEntity": { "synonyms": [ "ACOX", "AOX", "MGC1198", "MITCH", "PALMCOX", "SCOX", "acyl-CoA oxidase 1, palmitoyl", "acyl-CoA oxidase, straight-chain", "acyl-Coenzyme A oxidase 1, palmitoyl", "palmitoyl-CoA oxidase", "peroxisomal acyl-coenzyme A oxidase 1", "peroxisomal fatty acyl-CoA oxidase", "straight-chain acyl-CoA oxidase" ], "secondaryIds": [ "RGD:1344840" ], "genomeLocations": [ { "strand": "-", "endPosition": 75979459, "chromosome": "17", "assembly": "GRCh38", "startPosition": 75941507 } ], "primaryId": "HGNC:119", "crossReferences": [ { "id": "ENSEMBL:ENSG00000161533" }, { "id": "NCBI_Gene:51" }, { "id": "PANTHER:PTHR10909" }, { "id": "UniProtKB:Q15067" }, { "pages": [ "gene/references" ], "id": "RGD:1344840" }, { "pages": [ "gene" ], "id": "HGNC:119" }, { "id": "RGD:1344840" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACOX2", "geneSynopsis": "The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe cognitive disability, and death in children. [provided by RefSeq, Mar 2009]", "soTermId": "SO:0001217", "name": "acyl-CoA oxidase 2", "basicGeneticEntity": { "synonyms": [ "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidase", "BCOX", "BRCACOX", "BRCOX", "CBAS6", "THCA-CoA oxidase", "THCCox", "acyl-CoA oxidase 2, branched chain", "acyl-Coenzyme A oxidase 2, branched chain", "branched chain acyl-CoA oxidase", "peroxisomal acyl-coenzyme A oxidase 2", "peroxisomal branched chain acyl-CoA oxidase", "trihydroxycoprostanoyl-CoA oxidase" ], "secondaryIds": [ "RGD:735528" ], "genomeLocations": [ { "strand": "-", "endPosition": 58537387, "chromosome": "3", "assembly": "GRCh38", "startPosition": 58504544 } ], "primaryId": "HGNC:120", "crossReferences": [ { "id": "ENSEMBL:ENSG00000168306" }, { "id": "NCBI_Gene:8309" }, { "id": "PANTHER:PTHR10909" }, { "id": "UniProtKB:Q99424" }, { "pages": [ "gene/references" ], "id": "RGD:735528" }, { "pages": [ "gene" ], "id": "HGNC:120" }, { "id": "RGD:735528" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACOX3", "geneSynopsis": "Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements. However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "acyl-CoA oxidase 3, pristanoyl", "basicGeneticEntity": { "synonyms": [ "BRCACox", "acyl-Coenzyme A oxidase 3, pristanoyl", "branched-chain acyl-CoA oxidase", "peroxisomal acyl-coenzyme A oxidase 3", "pristanoyl-CoA oxidase" ], "secondaryIds": [ "RGD:736892" ], "genomeLocations": [ { "strand": "-", "endPosition": 8440750, "chromosome": "4", "assembly": "GRCh38", "startPosition": 8355305 } ], "primaryId": "HGNC:121", "crossReferences": [ { "id": "ENSEMBL:ENSG00000087008" }, { "id": "NCBI_Gene:8310" }, { "id": "PANTHER:PTHR10909" }, { "id": "UniProtKB:O15254" }, { "pages": [ "gene/references" ], "id": "RGD:736892" }, { "pages": [ "gene" ], "id": "HGNC:121" }, { "id": "RGD:736892" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACOXL", "geneSynopsis": "Predicted to enable acyl-CoA oxidase activity; fatty acid binding activity; and flavin adenine dinucleotide binding activity. Predicted to be involved in fatty acid beta-oxidation using acyl-CoA oxidase. Predicted to be located in peroxisomal matrix. Predicted to be active in peroxisome. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "acyl-CoA oxidase like", "basicGeneticEntity": { "synonyms": [ "ACOX4", "FLJ11042", "acyl-CoA oxidase-like", "acyl-CoA oxidase-like protein", "acyl-coenzyme A oxidase-like protein" ], "secondaryIds": [ "RGD:1315641" ], "genomeLocations": [ { "strand": "+", "endPosition": 111118548, "chromosome": "2", "assembly": "GRCh38", "startPosition": 110732524 } ], "primaryId": "HGNC:25621", "crossReferences": [ { "id": "ENSEMBL:ENSG00000153093" }, { "id": "NCBI_Gene:55289" }, { "id": "PANTHER:PTHR10909" }, { "id": "UniProtKB:Q9NUZ1" }, { "pages": [ "gene/references" ], "id": "RGD:1315641" }, { "pages": [ "gene" ], "id": "HGNC:25621" }, { "id": "RGD:1315641" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACOXL-AS1", "geneSynopsis": "INTERACTS WITH benzo[e]pyrene; methapyrilene; okadaic acid", "soTermId": "SO:0001263", "name": "ACOXL antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LOC400997", "uncharacterized LOC400997" ], "secondaryIds": [ "RGD:8663063" ], "genomeLocations": [ { "strand": "-", "endPosition": 111116407, "chromosome": "2", "assembly": "GRCh38", "startPosition": 111098341 } ], "primaryId": "HGNC:41112", "crossReferences": [ { "id": "ENSEMBL:ENSG00000204581" }, { "id": "NCBI_Gene:400997" }, { "pages": [ "gene/references" ], "id": "RGD:8663063" }, { "pages": [ "gene" ], "id": "HGNC:41112" }, { "id": "RGD:8663063" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACP1", "geneSynopsis": "The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2008]", "soTermId": "SO:0001217", "name": "acid phosphatase 1", "basicGeneticEntity": { "synonyms": [ "HAAP", "LMW-PTP", "LMW-PTPase", "LMWPTP", "MGC111030", "MGC3499", "acid phosphatase 1, soluble", "acid phosphatase of erythrocyte", "adipocyte acid phosphatase", "cytoplasmic phosphotyrosyl protein phosphatase", "low molecular weight cytosolic acid phosphatase", "low molecular weight phosphotyrosine protein phosphatase", "protein tyrosine phosphatase", "red cell acid phosphatase 1", "testicular secretory protein Li 37" ], "secondaryIds": [ "RGD:10069" ], "genomeLocations": [ { "strand": "+", "endPosition": 279100, "chromosome": "2", "assembly": "GRCh38", "startPosition": 264140 } ], "primaryId": "HGNC:122", "crossReferences": [ { "id": "ENSEMBL:ENSG00000143727" }, { "id": "NCBI_Gene:52" }, { "id": "PANTHER:PTHR11717" }, { "id": "UniProtKB:P24666" }, { "pages": [ "gene/references" ], "id": "RGD:10069" }, { "pages": [ "gene" ], "id": "HGNC:122" }, { "id": "RGD:10069" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACP2", "geneSynopsis": "The protein encoded by this gene belongs to the histidine acid phosphatase family, which hydrolyze orthophosphoric monoesters to alcohol and phosphate. This protein is localized to the lysosomal membrane, and is chemically and genetically distinct from the red cell acid phosphatase. Mice lacking this gene showed multiple defects, including bone structure alterations, lysosomal storage defects, and an increased tendency towards seizures. An enzymatically-inactive allele of this gene in mice showed severe growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2017]", "soTermId": "SO:0001217", "name": "acid phosphatase 2, lysosomal", "basicGeneticEntity": { "synonyms": [ "LAP", "acid phosphatase 2", "lysosomal acid phosphatase" ], "secondaryIds": [ "RGD:10071" ], "genomeLocations": [ { "strand": "-", "endPosition": 47249288, "chromosome": "11", "assembly": "GRCh38", "startPosition": 47238400 } ], "primaryId": "HGNC:123", "crossReferences": [ { "id": "ENSEMBL:ENSG00000134575" }, { "id": "NCBI_Gene:53" }, { "id": "PANTHER:PTHR11567" }, { "id": "UniProtKB:P11117" }, { "pages": [ "gene/references" ], "id": "RGD:10071" }, { "pages": [ "gene" ], "id": "HGNC:123" }, { "id": "RGD:10071" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACP3", "geneSynopsis": "This gene encodes an enzyme that catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is synthesized under androgen regulation and is secreted by the epithelial cells of the prostate gland. An alternatively spliced transcript variant encoding a longer isoform has been found for this gene. This isoform contains a transmembrane domain and is localized in the plasma membrane-endosomal-lysosomal pathway. [provided by RefSeq, Sep 2008]", "soTermId": "SO:0001217", "name": "acid phosphatase 3", "basicGeneticEntity": { "synonyms": [ "5'-NT", "5'-nucleotidase", "ACP-3", "ACPP", "PAP", "TM-PAP", "TMPase", "acid phosphatase, prostate", "ecto-5'-nucleotidase", "prostatic acid phosphatase", "prostatic acid phosphotase", "thiamine monophosphatase" ], "secondaryIds": [ "RGD:736505" ], "genomeLocations": [ { "strand": "+", "endPosition": 132368302, "chromosome": "3", "assembly": "GRCh38", "startPosition": 132317369 } ], "primaryId": "HGNC:125", "crossReferences": [ { "id": "ENSEMBL:ENSG00000014257" }, { "id": "NCBI_Gene:55" }, { "id": "PANTHER:PTHR11567" }, { "id": "UniProtKB:P15309" }, { "pages": [ "gene/references" ], "id": "RGD:736505" }, { "pages": [ "gene" ], "id": "HGNC:125" }, { "id": "RGD:736505" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACP4", "geneSynopsis": "Acid phosphatases are enzymes capable of hydrolyzing orthophosphoric acid esters in an acid medium. This gene is up-regulated by androgens and is down-regulated by estrogens in the prostate cancer cell line. This gene exhibits a lower level of expression in testicular cancer tissues than in normal tissues. The protein encoded by this gene has structural similarity to prostatic and lysosomal acid phosphatases. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "acid phosphatase 4", "basicGeneticEntity": { "synonyms": [ "ACPT", "AI1J", "acid phosphatase, testicular", "testicular acid phosphatase" ], "secondaryIds": [ "RGD:1317948" ], "genomeLocations": [ { "strand": "+", "endPosition": 50795219, "chromosome": "19", "assembly": "GRCh38", "startPosition": 50790415 } ], "primaryId": "HGNC:14376", "crossReferences": [ { "id": "ENSEMBL:ENSG00000142513" }, { "id": "NCBI_Gene:93650" }, { "id": "PANTHER:PTHR11567" }, { "id": "UniProtKB:Q9BZG2" }, { "pages": [ "gene/references" ], "id": "RGD:1317948" }, { "pages": [ "gene" ], "id": "HGNC:14376" }, { "id": "RGD:1317948" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACP5", "geneSynopsis": "This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by RefSeq, Aug 2008]", "soTermId": "SO:0001217", "name": "acid phosphatase 5, tartrate resistant", "basicGeneticEntity": { "synonyms": [ "HPAP", "MGC117378", "SPENCDI", "TRACP5a", "TRACP5b", "TRAP", "TRAcP", "TrATPase", "acid phosphatase 5", "human purple acid phosphatase", "tartrate-resistant acid ATPase", "tartrate-resistant acid phosphatase 5a", "tartrate-resistant acid phosphatase 5b", "tartrate-resistant acid phosphatase type 5" ], "secondaryIds": [ "RGD:10073" ], "genomeLocations": [ { "strand": "-", "endPosition": 11579993, "chromosome": "19", "assembly": "GRCh38", "startPosition": 11574653 } ], "primaryId": "HGNC:124", "crossReferences": [ { "id": "ENSEMBL:ENSG00000102575" }, { "id": "NCBI_Gene:54" }, { "id": "PANTHER:PTHR10161" }, { "id": "UniProtKB:P13686" }, { "pages": [ "gene/references" ], "id": "RGD:10073" }, { "pages": [ "gene" ], "id": "HGNC:124" }, { "id": "RGD:10073" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACP6", "geneSynopsis": "This gene encodes a member of the histidine acid phosphatase protein family. The encoded protein hydrolyzes lysophosphatidic acid, which is involved in G protein-coupled receptor signaling, lipid raft modulation, and in balancing lipid composition within the cell. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2016]", "soTermId": "SO:0001217", "name": "acid phosphatase 6, lysophosphatidic", "basicGeneticEntity": { "synonyms": [ "ACPL1", "LPAP", "PACPL1", "acid phosphatase like 1", "acid phosphatase-like protein 1", "lysophosphatidic acid phosphatase 6", "lysophosphatidic acid phosphatase type 6" ], "secondaryIds": [ "RGD:1314899" ], "genomeLocations": [ { "strand": "-", "endPosition": 147670531, "chromosome": "1", "assembly": "GRCh38", "startPosition": 147629652 } ], "primaryId": "HGNC:29609", "crossReferences": [ { "id": "ENSEMBL:ENSG00000162836" }, { "id": "NCBI_Gene:51205" }, { "id": "PANTHER:PTHR11567" }, { "id": "UniProtKB:Q9NPH0" }, { "pages": [ "gene/references" ], "id": "RGD:1314899" }, { "pages": [ "gene" ], "id": "HGNC:29609" }, { "id": "RGD:1314899" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACP7", "geneSynopsis": "Purple acid phosphatases (PAPs), including PAPL, are a family of binuclear metallohydrolases that have been identified in plants, animals, and fungi (Flanagan et al., 2006 [PubMed 16793224]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "acid phosphatase 7, tartrate resistant (putative)", "basicGeneticEntity": { "synonyms": [ "FLJ16165", "PAPL", "PAPL1", "acid phosphatase type 7", "purple acid phosphatase long form", "purple acid phosphatase long form 1" ], "secondaryIds": [ "RGD:1604436" ], "genomeLocations": [ { "strand": "+", "endPosition": 39111497, "chromosome": "19", "assembly": "GRCh38", "startPosition": 39083788 } ], "primaryId": "HGNC:33781", "crossReferences": [ { "id": "ENSEMBL:ENSG00000183760" }, { "id": "NCBI_Gene:390928" }, { "id": "PANTHER:PTHR45867" }, { "id": "UniProtKB:Q6ZNF0" }, { "pages": [ "gene/references" ], "id": "RGD:1604436" }, { "pages": [ "gene" ], "id": "HGNC:33781" }, { "id": "RGD:1604436" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACR", "geneSynopsis": "Acrosin is the major proteinase present in the acrosome of mature spermatozoa. It is a typical serine proteinase with trypsin-like specificity. It is stored in the acrosome in its precursor form, proacrosin. The active enzyme functions in the lysis of the zona pellucida, thus facilitating penetration of the sperm through the innermost glycoprotein layers of the ovum. The mRNA for proacrosin is synthesized only in the postmeiotic stages of spermatogenesis. In humans proacrosin first appears in the haploid spermatids. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "acrosin", "basicGeneticEntity": { "synonyms": [ "SPGF87", "acrosin light and heavy chain prepropeptide", "preproacrosin", "proacrosin" ], "secondaryIds": [ "RGD:736688" ], "genomeLocations": [ { "strand": "+", "endPosition": 50745339, "chromosome": "22", "assembly": "GRCh38", "startPosition": 50738196 } ], "primaryId": "HGNC:126", "crossReferences": [ { "id": "ENSEMBL:ENSG00000100312" }, { "id": "ENSEMBL:ENSG00000291368" }, { "id": "NCBI_Gene:49" }, { "id": "PANTHER:PTHR24252" }, { "id": "UniProtKB:P10323" }, { "pages": [ "gene/references" ], "id": "RGD:736688" }, { "pages": [ "gene" ], "id": "HGNC:126" }, { "id": "RGD:736688" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACRBP", "geneSynopsis": "The protein encoded by this gene is similar to proacrosin binding protein sp32 precursor found in mouse, guinea pig, and pig. This protein is located in the sperm acrosome and is thought to function as a binding protein to proacrosin for packaging and condensation of the acrosin zymogen in the acrosomal matrix. This protein is a member of the cancer/testis family of antigens and it is found to be immunogenic. In normal tissues, this mRNA is expressed only in testis, whereas it is detected in a range of different tumor types such as bladder, breast, lung, liver, and colon. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "acrosin binding protein", "basicGeneticEntity": { "synonyms": [ "CT23", "FLJ51160", "OY-TES-1", "SP32", "acrosin-binding protein", "acrosin-binding protein, 60 kDa form", "cancer/testis antigen 23", "cancer/testis antigen OY-TES-1", "proacrosin binding protein sp32", "testicular tissue protein Li 10" ], "secondaryIds": [ "RGD:1344974" ], "genomeLocations": [ { "strand": "-", "endPosition": 6647433, "chromosome": "12", "assembly": "GRCh38", "startPosition": 6638075 } ], "primaryId": "HGNC:17195", "crossReferences": [ { "id": "ENSEMBL:ENSG00000111644" }, { "id": "NCBI_Gene:84519" }, { "id": "PANTHER:PTHR21362" }, { "id": "UniProtKB:Q8NEB7" }, { "pages": [ "gene/references" ], "id": "RGD:1344974" }, { "pages": [ "gene" ], "id": "HGNC:17195" }, { "id": "RGD:1344974" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACRP1", "geneSynopsis": "INTERACTS WITH okadaic acid", "soTermId": "SO:0000336", "name": "ACR pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AL078621.2", "acrosin (ACR) pseudogene" ], "secondaryIds": [ "RGD:15091052" ], "genomeLocations": [ { "strand": "-", "endPosition": 113668627, "chromosome": "2", "assembly": "GRCh38", "startPosition": 113667347 } ], "primaryId": "HGNC:54745", "crossReferences": [ { "id": "ENSEMBL:ENSG00000175509" }, { "id": "NCBI_Gene:645529" }, { "pages": [ "gene/references" ], "id": "RGD:15091052" }, { "pages": [ "gene" ], "id": "HGNC:54745" }, { "id": "RGD:15091052" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACRV1", "geneSynopsis": "This gene encodes a testis-specific, differentiation antigen, acrosomal vesicle protein 1, that arises within the acrosomal vesicle during spermatogenesis, and is associated with the acrosomal membranes and matrix of mature sperm. The acrosomal vesicle protein 1 may be involved in sperm-zona binding or penetration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]", "soTermId": "SO:0001217", "name": "acrosomal vesicle protein 1", "basicGeneticEntity": { "synonyms": [ "D11S4365", "SP-10", "SPACA2", "acrosomal protein SP-10", "sperm protein 10" ], "secondaryIds": [ "RGD:1351105" ], "genomeLocations": [ { "strand": "-", "endPosition": 125680874, "chromosome": "11", "assembly": "GRCh38", "startPosition": 125671522 } ], "primaryId": "HGNC:127", "crossReferences": [ { "id": "ENSEMBL:ENSG00000134940" }, { "id": "NCBI_Gene:56" }, { "id": "PANTHER:PTHR17571" }, { "id": "UniProtKB:P26436" }, { "pages": [ "gene/references" ], "id": "RGD:1351105" }, { "pages": [ "gene" ], "id": "HGNC:127" }, { "id": "RGD:1351105" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSBG1", "geneSynopsis": "The protein encoded by this gene possesses long-chain acyl-CoA synthetase activity. It is thought to play a central role in brain very long-chain fatty acids metabolism and myelinogenesis. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "acyl-CoA synthetase bubblegum family member 1", "basicGeneticEntity": { "synonyms": [ "BG", "BG1", "BGM", "FLJ30320", "GR-LACS", "KIAA0631", "LPD", "MGC14352", "bubblegum", "hBG1", "hsBG", "hsBGM", "lipidosin", "lipodisin", "long-chain-fatty-acid--CoA ligase ACSBG1", "ortholog of rodent gonadotropin-regulated long chain acyl-CoA synthetase", "very long-chain acyl-CoA synthetase" ], "secondaryIds": [ "RGD:733957" ], "genomeLocations": [ { "strand": "-", "endPosition": 78245688, "chromosome": "15", "assembly": "GRCh38", "startPosition": 78167468 } ], "primaryId": "HGNC:29567", "crossReferences": [ { "id": "ENSEMBL:ENSG00000103740" }, { "id": "NCBI_Gene:23205" }, { "id": "PANTHER:PTHR43272" }, { "id": "UniProtKB:Q96GR2" }, { "pages": [ "gene/references" ], "id": "RGD:733957" }, { "pages": [ "gene" ], "id": "HGNC:29567" }, { "id": "RGD:733957" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSBG2", "geneSynopsis": "Enables arachidonate-CoA ligase activity and fatty acyl-CoA hydrolase activity. Acts upstream of or within fatty acid metabolic process. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "acyl-CoA synthetase bubblegum family member 2", "basicGeneticEntity": { "synonyms": [ "BGR", "BGR-like", "BRGL", "DKFZp434K1635", "MGC111089", "PRTD-NY3", "PRTDNY3", "arachidonate--CoA ligase ACSBG2", "bubblegum-related protein", "long-chain-fatty-acid--CoA ligase ACSBG2", "testicular tissue protein Li 8" ], "secondaryIds": [ "RGD:1604279" ], "genomeLocations": [ { "strand": "+", "endPosition": 6193094, "chromosome": "19", "assembly": "GRCh38", "startPosition": 6135247 } ], "primaryId": "HGNC:24174", "crossReferences": [ { "id": "ENSEMBL:ENSG00000130377" }, { "id": "NCBI_Gene:81616" }, { "id": "PANTHER:PTHR43272" }, { "id": "UniProtKB:Q5FVE4" }, { "pages": [ "gene/references" ], "id": "RGD:1604279" }, { "pages": [ "gene" ], "id": "HGNC:24174" }, { "id": "RGD:1604279" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSF2", "geneSynopsis": "Enables medium-chain fatty acid-CoA ligase activity. Predicted to be involved in fatty acid metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "acyl-CoA synthetase family member 2", "basicGeneticEntity": { "synonyms": [ "ACSMW", "AVYV493", "FLJ20920", "PPARG binding, long chain fatty acid acyl Co-A ligase like", "acyl-CoA synthetase family member 2, mitochondrial", "medium-chain acyl-CoA ligase ACSF2, mitochondrial" ], "secondaryIds": [ "RGD:1604594" ], "genomeLocations": [ { "strand": "+", "endPosition": 50474845, "chromosome": "17", "assembly": "GRCh38", "startPosition": 50426158 } ], "primaryId": "HGNC:26101", "crossReferences": [ { "id": "ENSEMBL:ENSG00000167107" }, { "id": "NCBI_Gene:80221" }, { "id": "PANTHER:PTHR43201" }, { "id": "UniProtKB:Q96CM8" }, { "pages": [ "gene/references" ], "id": "RGD:1604594" }, { "pages": [ "gene" ], "id": "HGNC:26101" }, { "id": "RGD:1604594" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSF3", "geneSynopsis": "This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013]", "soTermId": "SO:0001217", "name": "acyl-CoA synthetase family member 3", "basicGeneticEntity": { "synonyms": [ "FLJ39242", "acyl-CoA synthetase family member 3, mitochondrial", "malonate--CoA ligase ACSF3, mitochondrial", "malonyl-CoA synthetase" ], "secondaryIds": [ "RGD:1604214" ], "genomeLocations": [ { "strand": "+", "endPosition": 89164121, "chromosome": "16", "assembly": "GRCh38", "startPosition": 89088375 } ], "primaryId": "HGNC:27288", "crossReferences": [ { "id": "ENSEMBL:ENSG00000176715" }, { "id": "NCBI_Gene:197322" }, { "id": "PANTHER:PTHR43201" }, { "id": "UniProtKB:Q4G176" }, { "pages": [ "gene/references" ], "id": "RGD:1604214" }, { "pages": [ "gene" ], "id": "HGNC:27288" }, { "id": "RGD:1604214" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSL1", "geneSynopsis": "The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]", "soTermId": "SO:0001217", "name": "acyl-CoA synthetase long chain family member 1", "basicGeneticEntity": { "synonyms": [ "ACS1", "FACL1", "FACL2", "LACS", "LACS 1", "LACS 2", "LACS1", "LACS2", "acyl-CoA synthetase 1", "acyl-CoA synthetase long-chain family member 1", "arachidonate--CoA ligase", "fatty-acid-Coenzyme A ligase, long-chain 1", "fatty-acid-Coenzyme A ligase, long-chain 2", "lignoceroyl-CoA synthase", "long-chain acyl-CoA synthetase 1", "long-chain acyl-CoA synthetase 2", "long-chain fatty acid-CoA ligase 2", "long-chain fatty-acid-coenzyme A ligase 1", "long-chain-fatty-acid--CoA ligase 1", "palmitoyl-CoA ligase 1", "palmitoyl-CoA ligase 2", "paltimoyl-CoA ligase 1", "phytanate--CoA ligase" ], "secondaryIds": [ "RGD:1342971" ], "genomeLocations": [ { "strand": "-", "endPosition": 184826853, "chromosome": "4", "assembly": "GRCh38", "startPosition": 184755501 } ], "primaryId": "HGNC:3569", "crossReferences": [ { "id": "ENSEMBL:ENSG00000151726" }, { "id": "NCBI_Gene:2180" }, { "id": "PANTHER:PTHR43272" }, { "id": "UniProtKB:P33121" }, { "pages": [ "gene/references" ], "id": "RGD:1342971" }, { "pages": [ "gene" ], "id": "HGNC:3569" }, { "id": "RGD:1342971" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSL1-DT", "soTermId": "SO:0001263", "name": "ACSL1 divergent transcript", "basicGeneticEntity": { "synonyms": [ "LOC105377587", "uncharacterized LOC105377587" ], "secondaryIds": [ "RGD:38622534" ], "genomeLocations": [ { "strand": "+", "endPosition": 184844206, "chromosome": "4", "assembly": "GRCh38", "startPosition": 184826171 } ], "primaryId": "HGNC:58916", "crossReferences": [ { "id": "NCBI_Gene:105377587" }, { "pages": [ "gene/references" ], "id": "RGD:38622534" }, { "pages": [ "gene" ], "id": "HGNC:58916" }, { "id": "RGD:38622534" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSL3", "geneSynopsis": "The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in brain, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amino acid sequence of this isozyme is 92% identical to that of rat homolog. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "acyl-CoA synthetase long chain family member 3", "basicGeneticEntity": { "synonyms": [ "ACS3", "FACL3", "LACS 3", "LACS3", "PRO2194", "acyl-CoA synthetase long-chain family member 3", "arachidonate--CoA ligase", "fatty acid CoA ligase Acsl3", "fatty-acid-Coenzyme A ligase, long-chain 3", "lignoceroyl-CoA synthase", "long-chain acyl-CoA synthetase 3", "long-chain-fatty-acid--CoA ligase 3", "medium-chain acyl-CoA ligase Acsl3" ], "secondaryIds": [ "RGD:1602231" ], "genomeLocations": [ { "strand": "+", "endPosition": 222944639, "chromosome": "2", "assembly": "GRCh38", "startPosition": 222860942 } ], "primaryId": "HGNC:3570", "crossReferences": [ { "id": "ENSEMBL:ENSG00000123983" }, { "id": "NCBI_Gene:2181" }, { "id": "PANTHER:PTHR43272" }, { "id": "UniProtKB:O95573" }, { "pages": [ "gene/references" ], "id": "RGD:1602231" }, { "pages": [ "gene" ], "id": "HGNC:3570" }, { "id": "RGD:1602231" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSL3-AS1", "soTermId": "SO:0001263", "name": "ACSL3 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AC013476.1" ], "secondaryIds": [ "RGD:14696757" ], "genomeLocations": [ { "strand": "-", "endPosition": 222919601, "chromosome": "2", "assembly": "GRCh38", "startPosition": 222916654 } ], "primaryId": "HGNC:40227", "crossReferences": [ { "id": "ENSEMBL:ENSG00000234193" }, { "id": "NCBI_Gene:105373904" }, { "pages": [ "gene/references" ], "id": "RGD:14696757" }, { "pages": [ "gene" ], "id": "HGNC:40227" }, { "id": "RGD:14696757" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSL3P1", "soTermId": "SO:0000336", "name": "ACSL3 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "LOC100421637", "acyl-CoA synthetase long chain family member 3 pseudogene" ], "secondaryIds": [ "RGD:38601867" ], "genomeLocations": [ { "strand": "+", "endPosition": 133762362, "chromosome": "3", "assembly": "GRCh38", "startPosition": 133761511 } ], "primaryId": "HGNC:56529", "crossReferences": [ { "id": "NCBI_Gene:100421637" }, { "pages": [ "gene/references" ], "id": "RGD:38601867" }, { "pages": [ "gene" ], "id": "HGNC:56529" }, { "id": "RGD:38601867" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSL4", "geneSynopsis": "The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme preferentially utilizes arachidonate as substrate. The absence of this enzyme may contribute to the cognitive disability or Alport syndrome. Alternative splicing of this gene generates multiple transcript variants. [provided by RefSeq, Jan 2016]", "soTermId": "SO:0001217", "name": "acyl-CoA synthetase long chain family member 4", "basicGeneticEntity": { "synonyms": [ "ACS4", "FACL4", "LACS 4", "LACS4", "MRX63", "MRX68", "XLID63", "acyl-CoA synthetase 4", "acyl-CoA synthetase long-chain family member 4", "arachidonate--CoA ligase", "fatty-acid-Coenzyme A ligase, long-chain 4", "lignoceroyl-CoA synthase", "long-chain acyl-CoA synthetase 4", "long-chain fatty-acid-Coenzyme A ligase 4", "long-chain-fatty-acid--CoA ligase 4", "mental retardation, X-linked 63", "mental retardation, X-linked 68" ], "secondaryIds": [ "RGD:1344693" ], "genomeLocations": [ { "strand": "-", "endPosition": 109733403, "chromosome": "X", "assembly": "GRCh38", "startPosition": 109624244 } ], "primaryId": "HGNC:3571", "crossReferences": [ { "id": "ENSEMBL:ENSG00000068366" }, { "id": "NCBI_Gene:2182" }, { "id": "PANTHER:PTHR43272" }, { "id": "UniProtKB:O60488" }, { "pages": [ "gene/references" ], "id": "RGD:1344693" }, { "pages": [ "gene" ], "id": "HGNC:3571" }, { "id": "RGD:1344693" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSL5", "geneSynopsis": "The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in uterus and spleen, and in trace amounts in normal brain, but has markedly increased levels in malignant gliomas. This gene functions in mediating fatty acid-induced glioma cell growth. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "acyl-CoA synthetase long chain family member 5", "basicGeneticEntity": { "synonyms": [ "ACS2", "ACS5", "DIAR13", "FACL5", "FACL5 for fatty acid coenzyme A ligase 5", "LACS 5", "acyl-CoA synthetase long-chain family member 5", "arachidonate--CoA ligase", "fatty acid coenzyme A ligase 5", "fatty-acid-Coenzyme A ligase, long-chain 5", "long-chain acyl-CoA synthetase 5", "long-chain fatty acid coenzyme A ligase 5", "long-chain-fatty-acid--CoA ligase 5" ], "secondaryIds": [ "RGD:1604361" ], "genomeLocations": [ { "strand": "+", "endPosition": 112428381, "chromosome": "10", "assembly": "GRCh38", "startPosition": 112372400 } ], "primaryId": "HGNC:16526", "crossReferences": [ { "id": "ENSEMBL:ENSG00000197142" }, { "id": "NCBI_Gene:51703" }, { "id": "PANTHER:PTHR43272" }, { "id": "UniProtKB:Q9ULC5" }, { "pages": [ "gene/references" ], "id": "RGD:1604361" }, { "pages": [ "gene" ], "id": "HGNC:16526" }, { "id": "RGD:1604361" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSL6", "geneSynopsis": "The protein encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in the brain. Translocations with the ETV6 gene are causes of myelodysplastic syndrome with basophilia, acute myelogenous leukemia with eosinophilia, and acute eosinophilic leukemia. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2011]", "soTermId": "SO:0001217", "name": "acyl-CoA synthetase long chain family member 6", "basicGeneticEntity": { "synonyms": [ "ACS2", "FACL6", "FLJ16173", "KIAA0837", "LACS 6", "LACS2", "LACS5", "acyl-CoA synthetase long-chain family member 6", "arachidonate--CoA ligase", "fatty-acid-Coenzyme A ligase, long-chain 6", "long fatty acyl-CoA synthetase 2", "long-chain acyl-CoA synthetase 6", "long-chain-fatty-acid--CoA ligase 6" ], "secondaryIds": [ "RGD:1349836" ], "genomeLocations": [ { "strand": "-", "endPosition": 132012243, "chromosome": "5", "assembly": "GRCh38", "startPosition": 131949973 } ], "primaryId": "HGNC:16496", "crossReferences": [ { "id": "ENSEMBL:ENSG00000164398" }, { "id": "NCBI_Gene:23305" }, { "id": "PANTHER:PTHR43272" }, { "id": "UniProtKB:Q9UKU0" }, { "pages": [ "gene/references" ], "id": "RGD:1349836" }, { "pages": [ "gene" ], "id": "HGNC:16496" }, { "id": "RGD:1349836" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSL6-AS1", "soTermId": "SO:0001263", "name": "ACSL6 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AC034228.1", "novel transcript" ], "secondaryIds": [ "RGD:14696761" ], "genomeLocations": [ { "strand": "+", "endPosition": 132007041, "chromosome": "5", "assembly": "GRCh38", "startPosition": 132003573 } ], "primaryId": "HGNC:40772", "crossReferences": [ { "id": "ENSEMBL:ENSG00000223548" }, { "id": "NCBI_Gene:101927693" }, { "pages": [ "gene/references" ], "id": "RGD:14696761" }, { "pages": [ "gene" ], "id": "HGNC:40772" }, { "id": "RGD:14696761" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSL6-AS2", "soTermId": "SO:0001263", "name": "ACSL6 antisense RNA 2", "basicGeneticEntity": { "synonyms": [ "LOC124901062", "uncharacterized LOC124901062" ], "secondaryIds": [ "RGD:151669217" ], "genomeLocations": [ { "strand": "+", "endPosition": 132015529, "chromosome": "5", "assembly": "GRCh38", "startPosition": 132011456 } ], "primaryId": "HGNC:40773", "crossReferences": [ { "id": "NCBI_Gene:124901062" }, { "pages": [ "gene/references" ], "id": "RGD:151669217" }, { "pages": [ "gene" ], "id": "HGNC:40773" }, { "id": "RGD:151669217" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSM1", "geneSynopsis": "Enables benzoate-CoA ligase activity; decanoate-CoA ligase activity; and long-chain fatty acid-CoA ligase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "acyl-CoA synthetase medium chain family member 1", "basicGeneticEntity": { "synonyms": [ "BUCS1", "Butyrate CoA ligase", "MACS1", "MGC150532", "acyl-CoA synthetase medium-chain family member 1", "acyl-coenzyme A synthetase ACSM1, mitochondrial", "benzoate--CoA ligase", "butyrate--CoA ligase 1", "butyryl Coenzyme A synthetase 1", "butyryl-coenzyme A synthetase 1", "lipoate-activating enzyme", "medium-chain acyl-CoA synthetase", "middle-chain acyl-CoA synthetase 1", "xenobiotic/medium-chain fatty acid-CoA ligase HXM-B" ], "secondaryIds": [ "RGD:1315639" ], "genomeLocations": [ { "strand": "-", "endPosition": 20698890, "chromosome": "16", "assembly": "GRCh38", "startPosition": 20623233 } ], "primaryId": "HGNC:18049", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166743" }, { "id": "NCBI_Gene:116285" }, { "id": "PANTHER:PTHR43605" }, { "id": "UniProtKB:Q08AH1" }, { "pages": [ "gene/references" ], "id": "RGD:1315639" }, { "pages": [ "gene" ], "id": "HGNC:18049" }, { "id": "RGD:1315639" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSM2A", "geneSynopsis": "This gene encodes a mitochondrial acyl-coenzyme A synthetase that is specific for medium chain fatty acids. These enzymes catalyze fatty acid activation, the first step of fatty acid metabolism, through the transfer of acyl-CoA. These enzymes also participate in the glycine conjugation pathway in the detoxification of xenobiotics such as benzoate and ibuprofen. Expression levels of this gene in the kidney may be correlated with kidney function. This gene and its paralog ACSM2B (Gene ID: 348158), both present on chromosome 16, likely arose from a chromosomal duplication event. [provided by RefSeq, May 2017]", "soTermId": "SO:0001217", "name": "acyl-CoA synthetase medium chain family member 2A", "basicGeneticEntity": { "synonyms": [ "A-923A4.1", "ACSM2", "FLJ34659", "Homolog of rat kidney-specific (KS)", "MGC150530", "acyl-CoA synthetase medium-chain family member 2", "acyl-CoA synthetase medium-chain family member 2A", "acyl-coenzyme A synthetase ACSM2A, mitochondrial", "benzoate--CoA ligase", "butyrate--CoA ligase 2A", "butyryl-coenzyme A synthetase 2A", "middle-chain acyl-CoA synthetase 2A" ], "secondaryIds": [ "RGD:1606171" ], "genomeLocations": [ { "strand": "+", "endPosition": 20487669, "chromosome": "16", "assembly": "GRCh38", "startPosition": 20444012 } ], "primaryId": "HGNC:32017", "crossReferences": [ { "id": "ENSEMBL:ENSG00000183747" }, { "id": "NCBI_Gene:123876" }, { "id": "PANTHER:PTHR43605" }, { "id": "UniProtKB:Q08AH3" }, { "pages": [ "gene/references" ], "id": "RGD:1606171" }, { "pages": [ "gene" ], "id": "HGNC:32017" }, { "id": "RGD:1606171" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSM2B", "geneSynopsis": "Enables benzoate-CoA ligase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "acyl-CoA synthetase medium chain family member 2B", "basicGeneticEntity": { "synonyms": [ "ACSM2", "HXMA", "HYST1046", "acyl-CoA synthetase medium-chain family member 2", "acyl-CoA synthetase medium-chain family member 2B", "acyl-coenzyme A synthetase ACSM2B, mitochondrial", "benzoate--CoA ligase", "butyrate--CoA ligase 2B", "butyryl-coenzyme A synthetase 2B", "middle-chain acyl-CoA synthetase 2B", "xenobiotic/medium-chain fatty acid-CoA ligase HXM-A", "xenobiotic/medium-chain fatty acid:CoA ligase" ], "secondaryIds": [ "RGD:1604166" ], "genomeLocations": [ { "strand": "-", "endPosition": 20576442, "chromosome": "16", "assembly": "GRCh38", "startPosition": 20536226 } ], "primaryId": "HGNC:30931", "crossReferences": [ { "id": "ENSEMBL:ENSG00000066813" }, { "id": "NCBI_Gene:348158" }, { "id": "PANTHER:PTHR43605" }, { "id": "UniProtKB:Q68CK6" }, { "pages": [ "gene/references" ], "id": "RGD:1604166" }, { "pages": [ "gene" ], "id": "HGNC:30931" }, { "id": "RGD:1604166" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSM3", "geneSynopsis": "Enables medium-chain fatty acid-CoA ligase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrion. Implicated in IgA glomerulonephritis. Biomarker of ulcerative colitis. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "acyl-CoA synthetase medium chain family member 3", "basicGeneticEntity": { "synonyms": [ "LOC105379461", "SA", "SA (rat hypertension-associated) homolog", "SA hypertension-associated homolog", "SAH", "acyl-CoA synthetase medium-chain family member 3", "acyl-coenzyme A synthetase ACSM3, mitochondrial", "butyrate--CoA ligase 3", "butyryl-coenzyme A synthetase 3", "middle-chain acyl-CoA synthetase 3", "propionate--CoA ligase", "protein SA homolog", "sa rat hypertension-associated homolog", "uncharacterized LOC105379461" ], "secondaryIds": [ "RGD:735798" ], "genomeLocations": [ { "strand": "+", "endPosition": 20797843, "chromosome": "16", "assembly": "GRCh38", "startPosition": 20610243 } ], "primaryId": "HGNC:10522", "crossReferences": [ { "id": "ENSEMBL:ENSG00000005187" }, { "id": "NCBI_Gene:6296" }, { "id": "PANTHER:PTHR43605" }, { "id": "UniProtKB:Q53FZ2" }, { "pages": [ "gene/references" ], "id": "RGD:735798" }, { "pages": [ "gene" ], "id": "HGNC:10522" }, { "id": "RGD:735798" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSM4", "geneSynopsis": "Predicted to enable decanoate-CoA ligase activity and fatty-acyl-CoA synthase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "acyl-CoA synthetase medium chain family member 4", "basicGeneticEntity": { "synonyms": [ "acyl-CoA synthetase medium-chain family member 4", "acyl-coenzyme A synthetase ACSM4, mitochondrial" ], "secondaryIds": [ "RGD:1642901" ], "genomeLocations": [ { "strand": "+", "endPosition": 7328719, "chromosome": "12", "assembly": "GRCh38", "startPosition": 7304072 } ], "primaryId": "HGNC:32016", "crossReferences": [ { "id": "ENSEMBL:ENSG00000215009" }, { "id": "NCBI_Gene:341392" }, { "id": "PANTHER:PTHR43605" }, { "id": "UniProtKB:P0C7M7" }, { "pages": [ "gene/references" ], "id": "RGD:1642901" }, { "pages": [ "gene" ], "id": "HGNC:32016" }, { "id": "RGD:1642901" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSM5", "geneSynopsis": "Predicted to enable fatty acid ligase activity and fatty-acyl-CoA synthase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "acyl-CoA synthetase medium chain family member 5", "basicGeneticEntity": { "synonyms": [ "FLJ20581", "acyl-CoA synthetase medium-chain family member 5", "acyl-coenzyme A synthetase ACSM5, mitochondrial" ], "secondaryIds": [ "RGD:1603027" ], "genomeLocations": [ { "strand": "+", "endPosition": 20441337, "chromosome": "16", "assembly": "GRCh38", "startPosition": 20409308 } ], "primaryId": "HGNC:26060", "crossReferences": [ { "id": "ENSEMBL:ENSG00000183549" }, { "id": "NCBI_Gene:54988" }, { "id": "PANTHER:PTHR43605" }, { "id": "UniProtKB:Q6NUN0" }, { "pages": [ "gene/references" ], "id": "RGD:1603027" }, { "pages": [ "gene" ], "id": "HGNC:26060" }, { "id": "RGD:1603027" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSM5P1", "soTermId": "SO:0000336", "name": "acyl-CoA synthetase medium chain family member 5 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "acyl-CoA synthetase medium-chain family member 5 pseudogene 1" ], "secondaryIds": [ "RGD:9586501" ], "genomeLocations": [ { "strand": "-", "endPosition": 20607169, "chromosome": "16", "assembly": "GRCh38", "startPosition": 20586550 } ], "primaryId": "HGNC:51295", "crossReferences": [ { "id": "ENSEMBL:ENSG00000260762" }, { "id": "NCBI_Gene:100421779" }, { "pages": [ "gene/references" ], "id": "RGD:9586501" }, { "pages": [ "gene" ], "id": "HGNC:51295" }, { "id": "RGD:9586501" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSM6", "geneSynopsis": "Predicted to enable fatty acid ligase activity and fatty-acyl-CoA synthase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "acyl-CoA synthetase medium chain family member 6", "basicGeneticEntity": { "synonyms": [ "AMP-binding enzyme", "C10orf129", "acyl-CoA synthetase medium-chain family member 6", "acyl-coenzyme A synthetase ACSM6, mitochondrial", "bA310E22.3" ], "secondaryIds": [ "RGD:1344514" ], "genomeLocations": [ { "strand": "+", "endPosition": 95228929, "chromosome": "10", "assembly": "GRCh38", "startPosition": 95194200 } ], "primaryId": "HGNC:31665", "crossReferences": [ { "id": "ENSEMBL:ENSG00000173124" }, { "id": "NCBI_Gene:142827" }, { "id": "PANTHER:PTHR43605" }, { "id": "UniProtKB:Q6P461" }, { "pages": [ "gene/references" ], "id": "RGD:1344514" }, { "pages": [ "gene" ], "id": "HGNC:31665" }, { "id": "RGD:1344514" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSS1", "geneSynopsis": "This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]", "soTermId": "SO:0001217", "name": "acyl-CoA synthetase short chain family member 1", "basicGeneticEntity": { "synonyms": [ "ACAS2L", "ACECS1", "AceCS2L", "FLJ45659", "MGC33843", "acetate--CoA ligase 2", "acetyl-coenzyme A synthetase 2-like, mitochondrial", "acyl-CoA synthetase short-chain family member 1", "propionate--CoA ligase" ], "secondaryIds": [ "RGD:1314754" ], "genomeLocations": [ { "strand": "-", "endPosition": 25058980, "chromosome": "20", "assembly": "GRCh38", "startPosition": 25006230 } ], "primaryId": "HGNC:16091", "crossReferences": [ { "id": "ENSEMBL:ENSG00000154930" }, { "id": "NCBI_Gene:84532" }, { "id": "PANTHER:PTHR24095" }, { "id": "UniProtKB:Q9NUB1" }, { "pages": [ "gene/references" ], "id": "RGD:1314754" }, { "pages": [ "gene" ], "id": "HGNC:16091" }, { "id": "RGD:1314754" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSS2", "geneSynopsis": "This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]", "soTermId": "SO:0001217", "name": "acyl-CoA synthetase short chain family member 2", "basicGeneticEntity": { "synonyms": [ "ACAS2", "ACECS", "ACS", "ACSA", "AceCS1", "DKFZp762G026", "acetate thiokinase", "acetate--CoA ligase", "acetate-CoA ligase", "acetyl-CoA synthetase 1", "acetyl-Coenzyme A synthetase 2 (ADP forming)", "acetyl-coenzyme A synthetase, cytoplasmic", "acyl-CoA synthetase short-chain family member 2", "acyl-activating enzyme", "cytoplasmic acetyl-coenzyme A synthetase", "dJ1161H23.1", "propionate--CoA ligase" ], "secondaryIds": [ "RGD:1313544" ], "genomeLocations": [ { "strand": "+", "endPosition": 34927962, "chromosome": "20", "assembly": "GRCh38", "startPosition": 34872146 } ], "primaryId": "HGNC:15814", "crossReferences": [ { "id": "ENSEMBL:ENSG00000131069" }, { "id": "NCBI_Gene:55902" }, { "id": "PANTHER:PTHR24095" }, { "id": "UniProtKB:Q9NR19" }, { "pages": [ "gene/references" ], "id": "RGD:1313544" }, { "pages": [ "gene" ], "id": "HGNC:15814" }, { "id": "RGD:1313544" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSS3", "geneSynopsis": "Enables propionate-CoA ligase activity. Predicted to be involved in ketone body biosynthetic process. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "acyl-CoA synthetase short chain family member 3", "basicGeneticEntity": { "synonyms": [ "AMP-binding enzyme, 33217", "FLJ21963", "acetate--CoA ligase 3", "acyl-CoA synthetase short-chain family member 3", "acyl-CoA synthetase short-chain family member 3, mitochondrial", "propionate--CoA ligase" ], "secondaryIds": [ "RGD:1603012" ], "genomeLocations": [ { "strand": "+", "endPosition": 81261210, "chromosome": "12", "assembly": "GRCh38", "startPosition": 80936414 } ], "primaryId": "HGNC:24723", "crossReferences": [ { "id": "ENSEMBL:ENSG00000111058" }, { "id": "NCBI_Gene:79611" }, { "id": "PANTHER:PTHR43347" }, { "id": "UniProtKB:Q9H6R3" }, { "pages": [ "gene/references" ], "id": "RGD:1603012" }, { "pages": [ "gene" ], "id": "HGNC:24723" }, { "id": "RGD:1603012" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACSS3-AS1", "soTermId": "SO:0001263", "name": "ACSS3 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LOC107984535", "uncharacterized LOC107984535" ], "secondaryIds": [ "RGD:38649601" ], "genomeLocations": [ { "strand": "-", "endPosition": 81125858, "chromosome": "12", "assembly": "GRCh38", "startPosition": 81093798 } ], "primaryId": "HGNC:58286", "crossReferences": [ { "id": "NCBI_Gene:107984535" }, { "pages": [ "gene/references" ], "id": "RGD:38649601" }, { "pages": [ "gene" ], "id": "HGNC:58286" }, { "id": "RGD:38649601" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTA1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "actin alpha 1, skeletal muscle", "basicGeneticEntity": { "synonyms": [ "ACTA", "ASMA", "CFTD", "CFTD1", "CFTDM", "CMYO2A", "CMYO2B", "CMYO2C", "CMYP2A", "CMYP2B", "CMYP2C", "MPFD", "NEM1", "NEM2", "NEM3", "SHPM", "actin alpha 1", "actin, alpha 1, skeletal muscle", "actin, alpha skeletal muscle", "alpha skeletal muscle actin", "alpha-actin-1", "myopathy with fiber type disproportion", "nemaline myopathy type 3" ], "secondaryIds": [ "RGD:737580" ], "genomeLocations": [ { "strand": "-", "endPosition": 229434789, "chromosome": "1", "assembly": "GRCh38", "startPosition": 229430365 } ], "primaryId": "HGNC:129", "crossReferences": [ { "id": "ENSEMBL:ENSG00000143632" }, { "id": "NCBI_Gene:58" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:P68133" }, { "pages": [ "gene/references" ], "id": "RGD:737580" }, { "pages": [ "gene" ], "id": "HGNC:129" }, { "id": "RGD:737580" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTA2", "geneSynopsis": "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 smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome. [provided by RefSeq, Sep 2017]", "soTermId": "SO:0001217", "name": "actin alpha 2, smooth muscle", "basicGeneticEntity": { "synonyms": [ "AAT6", "ACTSA", "MYMY5", "SMDYS", "actin, alpha 2, smooth muscle, aorta", "actin, aortic smooth muscle", "alpha 2 actin", "alpha-actin-2", "alpha-cardiac actin", "cell growth-inhibiting gene 46 protein", "growth-inhibiting gene 46" ], "secondaryIds": [ "RGD:1348351" ], "genomeLocations": [ { "strand": "-", "endPosition": 88991339, "chromosome": "10", "assembly": "GRCh38", "startPosition": 88934822 } ], "primaryId": "HGNC:130", "crossReferences": [ { "id": "ENSEMBL:ENSG00000107796" }, { "id": "NCBI_Gene:59" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:P62736" }, { "pages": [ "gene/references" ], "id": "RGD:1348351" }, { "pages": [ "gene" ], "id": "HGNC:130" }, { "id": "RGD:1348351" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTA2-AS1", "geneSynopsis": "ASSOCIATED WITH Multisystemic Smooth Muscle Dysfunction Syndrome; thoracic aortic aneurysm; INTERACTS WITH aristolochic acid A; propanal", "soTermId": "SO:0001263", "name": "ACTA2 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "UC001kfo", "ZXF1", "uc001kfo.1" ], "secondaryIds": [ "RGD:8694255" ], "genomeLocations": [ { "strand": "+", "endPosition": 88940820, "chromosome": "10", "assembly": "GRCh38", "startPosition": 88932390 } ], "primaryId": "HGNC:45169", "crossReferences": [ { "id": "ENSEMBL:ENSG00000180139" }, { "id": "NCBI_Gene:100132116" }, { "pages": [ "gene/references" ], "id": "RGD:8694255" }, { "pages": [ "gene" ], "id": "HGNC:45169" }, { "id": "RGD:8694255" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTB", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "actin beta", "basicGeneticEntity": { "synonyms": [ "BKRNS", "BNS", "BRWS1", "CSMH", "DDS1", "I(2)-actin", "PS1TP5-binding protein 1", "PS1TP5BP1", "THC8", "actin, beta", "actin, cytoplasmic 1", "beta cytoskeletal actin" ], "secondaryIds": [ "RGD:735801" ], "genomeLocations": [ { "strand": "-", "endPosition": 5563902, "chromosome": "7", "assembly": "GRCh38", "startPosition": 5526409 } ], "primaryId": "HGNC:132", "crossReferences": [ { "id": "ENSEMBL:ENSG00000075624" }, { "id": "NCBI_Gene:60" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:P60709" }, { "pages": [ "gene/references" ], "id": "RGD:735801" }, { "pages": [ "gene" ], "id": "HGNC:132" }, { "id": "RGD:735801" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTBL2", "geneSynopsis": "Predicted to enable protein kinase binding activity. Predicted to be a structural constituent of postsynaptic actin cytoskeleton. Predicted to be involved in axonogenesis and cell motility. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "actin beta like 2", "basicGeneticEntity": { "synonyms": [ "ACT", "DKFZp686D0972", "actin, beta like 2", "actin, beta-like 2", "actin-like protein", "beta-actin-like protein 2", "kappa-actin", "similar to riken cdna 4732495g21 gene" ], "secondaryIds": [ "RGD:1603843" ], "genomeLocations": [ { "strand": "-", "endPosition": 57482811, "chromosome": "5", "assembly": "GRCh38", "startPosition": 57480018 } ], "primaryId": "HGNC:17780", "crossReferences": [ { "id": "ENSEMBL:ENSG00000169067" }, { "id": "NCBI_Gene:345651" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:Q562R1" }, { "pages": [ "gene/references" ], "id": "RGD:1603843" }, { "pages": [ "gene" ], "id": "HGNC:17780" }, { "id": "RGD:1603843" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTBP1", "soTermId": "SO:0000336", "name": "ACTB pseudogene 1", "basicGeneticEntity": { "synonyms": [ "actin, beta pseudogene 1" ], "secondaryIds": [ "RGD:1349890" ], "genomeLocations": [ { "strand": "-", "endPosition": 46289206, "chromosome": "X", "assembly": "GRCh38", "startPosition": 46287816 } ], "primaryId": "HGNC:134", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229145" }, { "id": "NCBI_Gene:643309" }, { "pages": [ "gene/references" ], "id": "RGD:1349890" }, { "pages": [ "gene" ], "id": "HGNC:134" }, { "id": "RGD:1349890" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTBP10", "soTermId": "SO:0000336", "name": "ACTB pseudogene 10", "basicGeneticEntity": { "synonyms": [ "actin, beta pseudogene 10" ], "secondaryIds": [ "RGD:1353115" ], "genomeLocations": [ { "strand": "+", "endPosition": 19000587, "chromosome": "14", "assembly": "GRCh38", "startPosition": 18998860 } ], "primaryId": "HGNC:31819", "crossReferences": [ { "id": "NCBI_Gene:446207" }, { "pages": [ "gene/references" ], "id": "RGD:1353115" }, { "pages": [ "gene" ], "id": "HGNC:31819" }, { "id": "RGD:1353115" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTBP11", "geneSynopsis": "INTERACTS WITH cadmium dichloride", "soTermId": "SO:0000336", "name": "ACTB pseudogene 11", "basicGeneticEntity": { "synonyms": [ "actin, beta pseudogene 11" ], "secondaryIds": [ "RGD:2293113" ], "genomeLocations": [ { "strand": "-", "endPosition": 223864935, "chromosome": "1", "assembly": "GRCh38", "startPosition": 223863145 } ], "primaryId": "HGNC:33971", "crossReferences": [ { "id": "ENSEMBL:ENSG00000188460" }, { "id": "NCBI_Gene:644220" }, { "pages": [ "gene/references" ], "id": "RGD:2293113" }, { "pages": [ "gene" ], "id": "HGNC:33971" }, { "id": "RGD:2293113" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTBP12", "soTermId": "SO:0000336", "name": "ACTB pseudogene 12", "basicGeneticEntity": { "synonyms": [ "ACTGP5", "actin, beta pseudogene 12" ], "secondaryIds": [ "RGD:1347270" ], "genomeLocations": [ { "strand": "-", "endPosition": 92229435, "chromosome": "1", "assembly": "GRCh38", "startPosition": 92229002 } ], "primaryId": "HGNC:150", "crossReferences": [ { "id": "ENSEMBL:ENSG00000233125" }, { "id": "NCBI_Gene:100462767" }, { "pages": [ "gene/references" ], "id": "RGD:1347270" }, { "pages": [ "gene" ], "id": "HGNC:150" }, { "id": "RGD:1347270" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTBP14", "geneSynopsis": "INTERACTS WITH aristolochic acid A", "soTermId": "SO:0000336", "name": "ACTB pseudogene 14", "basicGeneticEntity": { "synonyms": [ "actin, beta pseudogene 14" ], "secondaryIds": [ "RGD:7240981" ], "genomeLocations": [ { "strand": "+", "endPosition": 69023894, "chromosome": "10", "assembly": "GRCh38", "startPosition": 69022778 } ], "primaryId": "HGNC:45086", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229001" }, { "id": "NCBI_Gene:389976" }, { "pages": [ "gene/references" ], "id": "RGD:7240981" }, { "pages": [ "gene" ], "id": "HGNC:45086" }, { "id": "RGD:7240981" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTBP15", "soTermId": "SO:0000336", "name": "ACTB pseudogene 15", "basicGeneticEntity": { "secondaryIds": [ "RGD:30306883" ], "genomeLocations": [ { "strand": "-", "endPosition": 41075239, "chromosome": "22", "assembly": "GRCh38", "startPosition": 41074165 } ], "primaryId": "HGNC:55065", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213857" }, { "id": "NCBI_Gene:391334" }, { "pages": [ "gene/references" ], "id": "RGD:30306883" }, { "pages": [ "gene" ], "id": "HGNC:55065" }, { "id": "RGD:30306883" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTBP16", "soTermId": "SO:0000336", "name": "ACTB pseudogene 16", "basicGeneticEntity": { "synonyms": [ "LOC100132223", "actin beta pseudogene" ], "secondaryIds": [ "RGD:38641659" ], "genomeLocations": [ { "strand": "+", "endPosition": 180822015, "chromosome": "3", "assembly": "GRCh38", "startPosition": 180820460 } ], "primaryId": "HGNC:56590", "crossReferences": [ { "id": "NCBI_Gene:100132223" }, { "pages": [ "gene/references" ], "id": "RGD:38641659" }, { "pages": [ "gene" ], "id": "HGNC:56590" }, { "id": "RGD:38641659" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTBP2", "geneSynopsis": "INTERACTS WITH benzo[a]pyrene; sodium arsenite; thiram", "soTermId": "SO:0000336", "name": "ACTB pseudogene 2", "basicGeneticEntity": { "synonyms": [ "actin, beta pseudogene 2" ], "secondaryIds": [ "RGD:1344030" ], "genomeLocations": [ { "strand": "+", "endPosition": 77786597, "chromosome": "5", "assembly": "GRCh38", "startPosition": 77784803 } ], "primaryId": "HGNC:135", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213763" }, { "id": "NCBI_Gene:62" }, { "pages": [ "gene/references" ], "id": "RGD:1344030" }, { "pages": [ "gene" ], "id": "HGNC:135" }, { "id": "RGD:1344030" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTBP3", "soTermId": "SO:0000336", "name": "ACTB pseudogene 3", "basicGeneticEntity": { "synonyms": [ "actin, beta pseudogene 3" ], "secondaryIds": [ "RGD:1353051" ], "genomeLocations": [ { "strand": "-", "endPosition": 59693473, "chromosome": "18", "assembly": "GRCh38", "startPosition": 59693046 } ], "primaryId": "HGNC:136", "crossReferences": [ { "id": "NCBI_Gene:63" }, { "pages": [ "gene/references" ], "id": "RGD:1353051" }, { "pages": [ "gene" ], "id": "HGNC:136" }, { "id": "RGD:1353051" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTBP4", "soTermId": "SO:0000336", "name": "ACTB pseudogene 4", "basicGeneticEntity": { "synonyms": [ "AC008695.2", "actin, beta pseudogene 4" ], "secondaryIds": [ "RGD:1350369" ], "genomeLocations": [ { "strand": "-", "endPosition": 131660199, "chromosome": "5", "assembly": "GRCh38", "startPosition": 131658440 } ], "primaryId": "HGNC:137", "crossReferences": [ { "id": "ENSEMBL:ENSG00000286676" }, { "id": "NCBI_Gene:64" }, { "pages": [ "gene/references" ], "id": "RGD:1350369" }, { "pages": [ "gene" ], "id": "HGNC:137" }, { "id": "RGD:1350369" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTBP6", "soTermId": "SO:0000336", "name": "ACTB pseudogene 6", "basicGeneticEntity": { "synonyms": [ "H8-PSI-BETA-AC3", "actin, beta pseudogene 6" ], "secondaryIds": [ "RGD:1345201" ], "genomeLocations": [ { "strand": "+", "endPosition": 84950268, "chromosome": "8", "assembly": "GRCh38", "startPosition": 84948509 } ], "primaryId": "HGNC:139", "crossReferences": [ { "id": "ENSEMBL:ENSG00000203413" }, { "id": "NCBI_Gene:66" }, { "pages": [ "gene/references" ], "id": "RGD:1345201" }, { "pages": [ "gene" ], "id": "HGNC:139" }, { "id": "RGD:1345201" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTBP7", "soTermId": "SO:0000336", "name": "ACTB pseudogene 7", "basicGeneticEntity": { "synonyms": [ "actin, beta pseudogene 7" ], "secondaryIds": [ "RGD:1351732" ], "genomeLocations": [ { "strand": "-", "endPosition": 43990265, "chromosome": "15", "assembly": "GRCh38", "startPosition": 43988478 } ], "primaryId": "HGNC:140", "crossReferences": [ { "id": "ENSEMBL:ENSG00000185607" }, { "id": "NCBI_Gene:67" }, { "pages": [ "gene/references" ], "id": "RGD:1351732" }, { "pages": [ "gene" ], "id": "HGNC:140" }, { "id": "RGD:1351732" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTBP8", "soTermId": "SO:0000336", "name": "ACTB pseudogene 8", "basicGeneticEntity": { "synonyms": [ "ACTBP2", "actin, beta pseudogene 8" ], "secondaryIds": [ "RGD:1348995" ], "genomeLocations": [ { "strand": "-", "endPosition": 88277073, "chromosome": "6", "assembly": "GRCh38", "startPosition": 88275305 } ], "primaryId": "HGNC:141", "crossReferences": [ { "id": "ENSEMBL:ENSG00000220267" }, { "id": "NCBI_Gene:68" }, { "pages": [ "gene/references" ], "id": "RGD:1348995" }, { "pages": [ "gene" ], "id": "HGNC:141" }, { "id": "RGD:1348995" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTBP9", "soTermId": "SO:0000336", "name": "ACTB pseudogene 9", "basicGeneticEntity": { "synonyms": [ "actin, beta pseudogene 9" ], "secondaryIds": [ "RGD:1346494" ], "genomeLocations": [ { "strand": "+", "endPosition": 62443715, "chromosome": "18", "assembly": "GRCh38", "startPosition": 62441924 } ], "primaryId": "HGNC:142", "crossReferences": [ { "id": "ENSEMBL:ENSG00000266920" }, { "id": "NCBI_Gene:69" }, { "pages": [ "gene/references" ], "id": "RGD:1346494" }, { "pages": [ "gene" ], "id": "HGNC:142" }, { "id": "RGD:1346494" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTC1", "geneSynopsis": "Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "actin alpha cardiac muscle 1", "basicGeneticEntity": { "synonyms": [ "ACTC", "ASD5", "CMD1R", "CMH11", "LVNC4", "actin alpha cardiac 1", "actin, alpha cardiac muscle 1", "actin, alpha, cardiac muscle 1", "alpha-cardiac actin" ], "secondaryIds": [ "RGD:735789" ], "genomeLocations": [ { "strand": "-", "endPosition": 34795912, "chromosome": "15", "assembly": "GRCh38", "startPosition": 34790107 } ], "primaryId": "HGNC:143", "crossReferences": [ { "id": "ENSEMBL:ENSG00000159251" }, { "id": "NCBI_Gene:70" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:P68032" }, { "pages": [ "gene/references" ], "id": "RGD:735789" }, { "pages": [ "gene" ], "id": "HGNC:143" }, { "id": "RGD:735789" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTE1P", "geneSynopsis": "INTERACTS WITH triptonide (ortholog)", "soTermId": "SO:0000336", "name": "actin epsilon 1, pseudogene", "basicGeneticEntity": { "synonyms": [ "FLJ42102", "LOC124902707", "actin, aortic smooth muscle-like", "uncharacterized LOC399923" ], "secondaryIds": [ "RGD:5133630" ], "genomeLocations": [ { "strand": "-", "endPosition": 71423730, "chromosome": "11", "assembly": "GRCh38", "startPosition": 71382456 } ], "primaryId": "HGNC:51491", "crossReferences": [ { "id": "ENSEMBL:ENSG00000293435" }, { "id": "ENSEMBL:ENSG00000172900" }, { "id": "NCBI_Gene:399923" }, { "id": "UniProtKB:Q6ZVU0" }, { "pages": [ "gene/references" ], "id": "RGD:5133630" }, { "pages": [ "gene" ], "id": "HGNC:51491" }, { "id": "RGD:5133630" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "actin gamma 1", "basicGeneticEntity": { "synonyms": [ "ACT", "ACTG", "BRWS2", "DFNA20", "DFNA26", "HEL-176", "actin, cytoplasmic 2", "cytoskeletal gamma-actin", "deafness, autosomal dominant 20", "deafness, autosomal dominant 26", "epididymis luminal protein 176", "gamma-actin" ], "secondaryIds": [ "RGD:1312061" ], "genomeLocations": [ { "strand": "-", "endPosition": 81523847, "chromosome": "17", "assembly": "GRCh38", "startPosition": 81509413 } ], "primaryId": "HGNC:144", "crossReferences": [ { "id": "ENSEMBL:ENSG00000291420" }, { "id": "ENSEMBL:ENSG00000184009" }, { "id": "NCBI_Gene:71" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:P63261" }, { "pages": [ "gene/references" ], "id": "RGD:1312061" }, { "pages": [ "gene" ], "id": "HGNC:144" }, { "id": "RGD:1312061" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P1", "geneSynopsis": "INTERACTS WITH benzo[a]pyrene", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ACT1GP1", "ACTGP1", "HY-psi-gamma-AC6" ], "secondaryIds": [ "RGD:1345992" ], "genomeLocations": [ { "strand": "+", "endPosition": 139495682, "chromosome": "3", "assembly": "GRCh38", "startPosition": 139493743 } ], "primaryId": "HGNC:146", "crossReferences": [ { "id": "ENSEMBL:ENSG00000178631" }, { "id": "NCBI_Gene:73" }, { "pages": [ "gene/references" ], "id": "RGD:1345992" }, { "pages": [ "gene" ], "id": "HGNC:146" }, { "id": "RGD:1345992" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P10", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 10", "basicGeneticEntity": { "synonyms": [ "ACTGP10", "ACTL1", "ACTP1" ], "secondaryIds": [ "RGD:1349704" ], "genomeLocations": [ { "strand": "-", "endPosition": 53143984, "chromosome": "X", "assembly": "GRCh38", "startPosition": 53141688 } ], "primaryId": "HGNC:155", "crossReferences": [ { "id": "ENSEMBL:ENSG00000231340" }, { "id": "NCBI_Gene:83" }, { "pages": [ "gene/references" ], "id": "RGD:1349704" }, { "pages": [ "gene" ], "id": "HGNC:155" }, { "id": "RGD:1349704" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P11", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 11", "basicGeneticEntity": { "secondaryIds": [ "RGD:3207729" ], "genomeLocations": [ { "strand": "+", "endPosition": 18149718, "chromosome": "Y", "assembly": "GRCh38", "startPosition": 18147810 } ], "primaryId": "HGNC:37651", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229465" }, { "id": "NCBI_Gene:414754" }, { "pages": [ "gene/references" ], "id": "RGD:3207729" }, { "pages": [ "gene" ], "id": "HGNC:37651" }, { "id": "RGD:3207729" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P12", "geneSynopsis": "INTERACTS WITH copper atom; copper(0); resveratrol", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 12", "basicGeneticEntity": { "secondaryIds": [ "RGD:7174869" ], "genomeLocations": [ { "strand": "+", "endPosition": 12071560, "chromosome": "3", "assembly": "GRCh38", "startPosition": 12070155 } ], "primaryId": "HGNC:44496", "crossReferences": [ { "id": "ENSEMBL:ENSG00000226642" }, { "id": "NCBI_Gene:100418921" }, { "pages": [ "gene/references" ], "id": "RGD:7174869" }, { "pages": [ "gene" ], "id": "HGNC:44496" }, { "id": "RGD:7174869" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P13", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 13", "basicGeneticEntity": { "secondaryIds": [ "RGD:7257631" ], "genomeLocations": [ { "strand": "-", "endPosition": 99216266, "chromosome": "3", "assembly": "GRCh38", "startPosition": 99215224 } ], "primaryId": "HGNC:49058", "crossReferences": [ { "id": "ENSEMBL:ENSG00000241305" }, { "id": "NCBI_Gene:100418920" }, { "pages": [ "gene/references" ], "id": "RGD:7257631" }, { "pages": [ "gene" ], "id": "HGNC:49058" }, { "id": "RGD:7257631" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P14", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 14", "basicGeneticEntity": { "secondaryIds": [ "RGD:8548091" ], "genomeLocations": [ { "strand": "+", "endPosition": 6835584, "chromosome": "9", "assembly": "GRCh38", "startPosition": 6834408 } ], "primaryId": "HGNC:49751", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230581" }, { "id": "NCBI_Gene:100418910" }, { "pages": [ "gene/references" ], "id": "RGD:8548091" }, { "pages": [ "gene" ], "id": "HGNC:49751" }, { "id": "RGD:8548091" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P15", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 15", "basicGeneticEntity": { "secondaryIds": [ "RGD:9685868" ], "genomeLocations": [ { "strand": "-", "endPosition": 34374603, "chromosome": "15", "assembly": "GRCh38", "startPosition": 34373534 } ], "primaryId": "HGNC:51495", "crossReferences": [ { "id": "ENSEMBL:ENSG00000259904" }, { "id": "NCBI_Gene:100418951" }, { "pages": [ "gene/references" ], "id": "RGD:9685868" }, { "pages": [ "gene" ], "id": "HGNC:51495" }, { "id": "RGD:9685868" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P16", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 16", "basicGeneticEntity": { "secondaryIds": [ "RGD:9685938" ], "genomeLocations": [ { "strand": "-", "endPosition": 50059301, "chromosome": "16", "assembly": "GRCh38", "startPosition": 50057956 } ], "primaryId": "HGNC:51496", "crossReferences": [ { "id": "ENSEMBL:ENSG00000260298" }, { "id": "NCBI_Gene:100418960" }, { "pages": [ "gene/references" ], "id": "RGD:9685938" }, { "pages": [ "gene" ], "id": "HGNC:51496" }, { "id": "RGD:9685938" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P17", "geneSynopsis": "INTERACTS WITH bisphenol A; lipopolysaccharide; S-(1,2-dichlorovinyl)-L-cysteine", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 17", "basicGeneticEntity": { "secondaryIds": [ "RGD:9685897" ], "genomeLocations": [ { "strand": "-", "endPosition": 82750503, "chromosome": "15", "assembly": "GRCh38", "startPosition": 82710450 } ], "primaryId": "HGNC:51497", "crossReferences": [ { "id": "ENSEMBL:ENSG00000293222" }, { "id": "ENSEMBL:ENSG00000259315" }, { "id": "NCBI_Gene:283693" }, { "pages": [ "gene/references" ], "id": "RGD:9685897" }, { "pages": [ "gene" ], "id": "HGNC:51497" }, { "id": "RGD:9685897" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P18", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 18", "basicGeneticEntity": { "secondaryIds": [ "RGD:9685911" ], "genomeLocations": [ { "strand": "-", "endPosition": 101431553, "chromosome": "6", "assembly": "GRCh38", "startPosition": 101430411 } ], "primaryId": "HGNC:51498", "crossReferences": [ { "id": "ENSEMBL:ENSG00000218475" }, { "id": "NCBI_Gene:100418924" }, { "pages": [ "gene/references" ], "id": "RGD:9685911" }, { "pages": [ "gene" ], "id": "HGNC:51498" }, { "id": "RGD:9685911" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P19", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 19", "basicGeneticEntity": { "secondaryIds": [ "RGD:9685854" ], "genomeLocations": [ { "strand": "+", "endPosition": 100732362, "chromosome": "9", "assembly": "GRCh38", "startPosition": 100731200 } ], "primaryId": "HGNC:51499", "crossReferences": [ { "id": "ENSEMBL:ENSG00000237999" }, { "id": "NCBI_Gene:644160" }, { "pages": [ "gene/references" ], "id": "RGD:9685854" }, { "pages": [ "gene" ], "id": "HGNC:51499" }, { "id": "RGD:9685854" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P2", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ACTGP2", "ACTL2" ], "secondaryIds": [ "RGD:1342717" ], "genomeLocations": [ { "strand": "-", "endPosition": 17758298, "chromosome": "Y", "assembly": "GRCh38", "startPosition": 17756197 } ], "primaryId": "HGNC:147", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229129" }, { "id": "NCBI_Gene:74" }, { "pages": [ "gene/references" ], "id": "RGD:1342717" }, { "pages": [ "gene" ], "id": "HGNC:147" }, { "id": "RGD:1342717" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P20", "geneSynopsis": "INTERACTS WITH dexamethasone", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 20", "basicGeneticEntity": { "secondaryIds": [ "RGD:9685856" ], "genomeLocations": [ { "strand": "+", "endPosition": 27326525, "chromosome": "1", "assembly": "GRCh38", "startPosition": 27323874 } ], "primaryId": "HGNC:51500", "crossReferences": [ { "id": "ENSEMBL:ENSG00000241547" }, { "id": "NCBI_Gene:644961" }, { "pages": [ "gene/references" ], "id": "RGD:9685856" }, { "pages": [ "gene" ], "id": "HGNC:51500" }, { "id": "RGD:9685856" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P21", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 21", "basicGeneticEntity": { "secondaryIds": [ "RGD:9686042" ], "genomeLocations": [ { "strand": "-", "endPosition": 77774879, "chromosome": "1", "assembly": "GRCh38", "startPosition": 77773865 } ], "primaryId": "HGNC:51501", "crossReferences": [ { "id": "ENSEMBL:ENSG00000232672" }, { "id": "NCBI_Gene:100131291" }, { "pages": [ "gene/references" ], "id": "RGD:9686042" }, { "pages": [ "gene" ], "id": "HGNC:51501" }, { "id": "RGD:9686042" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P22", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 22", "basicGeneticEntity": { "secondaryIds": [ "RGD:9685912" ], "genomeLocations": [ { "strand": "+", "endPosition": 57766053, "chromosome": "2", "assembly": "GRCh38", "startPosition": 57764954 } ], "primaryId": "HGNC:51502", "crossReferences": [ { "id": "ENSEMBL:ENSG00000271615" }, { "id": "NCBI_Gene:100131953" }, { "pages": [ "gene/references" ], "id": "RGD:9685912" }, { "pages": [ "gene" ], "id": "HGNC:51502" }, { "id": "RGD:9685912" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P23", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 23", "basicGeneticEntity": { "secondaryIds": [ "RGD:9685876" ], "genomeLocations": [ { "strand": "-", "endPosition": 175978575, "chromosome": "3", "assembly": "GRCh38", "startPosition": 175977486 } ], "primaryId": "HGNC:51503", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230362" }, { "id": "NCBI_Gene:442097" }, { "pages": [ "gene/references" ], "id": "RGD:9685876" }, { "pages": [ "gene" ], "id": "HGNC:51503" }, { "id": "RGD:9685876" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P24", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 24", "basicGeneticEntity": { "synonyms": [ "POTENP" ], "secondaryIds": [ "RGD:8158491" ], "genomeLocations": [ { "strand": "+", "endPosition": 17242918, "chromosome": "17", "assembly": "GRCh38", "startPosition": 17242010 } ], "primaryId": "HGNC:49661", "crossReferences": [ { "id": "ENSEMBL:ENSG00000226359" }, { "id": "NCBI_Gene:441783" }, { "pages": [ "gene/references" ], "id": "RGD:8158491" }, { "pages": [ "gene" ], "id": "HGNC:49661" }, { "id": "RGD:8158491" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P25", "geneSynopsis": "INTERACTS WITH sodium arsenite", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 25", "basicGeneticEntity": { "synonyms": [ "AC098934.2", "AGPG", "actin, gamma 1 (ACTG1) pseudogene" ], "secondaryIds": [ "RGD:27373226" ], "genomeLocations": [ { "strand": "+", "endPosition": 202875241, "chromosome": "1", "assembly": "GRCh38", "startPosition": 202861713 } ], "primaryId": "HGNC:54872", "crossReferences": [ { "id": "ENSEMBL:ENSG00000293264" }, { "id": "ENSEMBL:ENSG00000234996" }, { "id": "NCBI_Gene:148709" }, { "pages": [ "gene/references" ], "id": "RGD:27373226" }, { "pages": [ "gene" ], "id": "HGNC:54872" }, { "id": "RGD:27373226" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P3", "geneSynopsis": "INTERACTS WITH copper atom; copper(0); resveratrol", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ACTGP3", "dJ545L17.4" ], "secondaryIds": [ "RGD:1351647" ], "genomeLocations": [ { "strand": "+", "endPosition": 1162195, "chromosome": "20", "assembly": "GRCh38", "startPosition": 1160512 } ], "primaryId": "HGNC:148", "crossReferences": [ { "id": "ENSEMBL:ENSG00000215388" }, { "id": "NCBI_Gene:75" }, { "pages": [ "gene/references" ], "id": "RGD:1351647" }, { "pages": [ "gene" ], "id": "HGNC:148" }, { "id": "RGD:1351647" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P4", "geneSynopsis": "INTERACTS WITH bisphenol AF; cadmium dichloride; paraoxon", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 4", "basicGeneticEntity": { "synonyms": [ "ACTGP4" ], "secondaryIds": [ "RGD:1349352" ], "genomeLocations": [ { "strand": "+", "endPosition": 103571391, "chromosome": "1", "assembly": "GRCh38", "startPosition": 103569404 } ], "primaryId": "HGNC:149", "crossReferences": [ { "id": "ENSEMBL:ENSG00000236085" }, { "id": "NCBI_Gene:648740" }, { "pages": [ "gene/references" ], "id": "RGD:1349352" }, { "pages": [ "gene" ], "id": "HGNC:149" }, { "id": "RGD:1349352" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P6", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 6", "basicGeneticEntity": { "synonyms": [ "ACTGP6" ], "secondaryIds": [ "RGD:15037005" ], "primaryId": "HGNC:151", "crossReferences": [ { "id": "NCBI_Gene:78" }, { "pages": [ "gene/references" ], "id": "RGD:15037005" }, { "pages": [ "gene" ], "id": "HGNC:151" }, { "id": "RGD:15037005" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P7", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 7", "basicGeneticEntity": { "synonyms": [ "ACTGP7" ], "secondaryIds": [ "RGD:15037029" ], "primaryId": "HGNC:152", "crossReferences": [ { "id": "NCBI_Gene:79" }, { "pages": [ "gene/references" ], "id": "RGD:15037029" }, { "pages": [ "gene" ], "id": "HGNC:152" }, { "id": "RGD:15037029" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P8", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 8", "basicGeneticEntity": { "synonyms": [ "ACTGP8" ], "secondaryIds": [ "RGD:15037071" ], "primaryId": "HGNC:153", "crossReferences": [ { "id": "NCBI_Gene:80" }, { "pages": [ "gene/references" ], "id": "RGD:15037071" }, { "pages": [ "gene" ], "id": "HGNC:153" }, { "id": "RGD:15037071" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG1P9", "geneSynopsis": "INTERACTS WITH cadmium dichloride; DDT; N-methyl-4-phenylpyridinium", "soTermId": "SO:0000336", "name": "actin gamma 1 pseudogene 9", "basicGeneticEntity": { "synonyms": [ "ACTGP9" ], "secondaryIds": [ "RGD:1342857" ], "genomeLocations": [ { "strand": "+", "endPosition": 46207386, "chromosome": "6", "assembly": "GRCh38", "startPosition": 46204729 } ], "primaryId": "HGNC:154", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229349" }, { "id": "NCBI_Gene:82" }, { "pages": [ "gene/references" ], "id": "RGD:1342857" }, { "pages": [ "gene" ], "id": "HGNC:154" }, { "id": "RGD:1342857" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTG2", "geneSynopsis": "Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. 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. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]", "soTermId": "SO:0001217", "name": "actin gamma 2, smooth muscle", "basicGeneticEntity": { "synonyms": [ "ACT", "ACTA3", "ACTE", "ACTL3", "ACTSG", "MMIHS5", "VSCM", "VSCM1", "actin, gamma 2", "actin, gamma 2, smooth muscle, enteric", "actin, gamma-enteric smooth muscle", "actin-like protein", "alpha-actin 3", "alpha-actin-3", "gamma-2-actin", "smooth muscle gamma actin", "smooth muscle gamma-actin" ], "secondaryIds": [ "RGD:737318" ], "genomeLocations": [ { "strand": "+", "endPosition": 73919865, "chromosome": "2", "assembly": "GRCh38", "startPosition": 73892232 } ], "primaryId": "HGNC:145", "crossReferences": [ { "id": "ENSEMBL:ENSG00000163017" }, { "id": "NCBI_Gene:72" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:P63267" }, { "pages": [ "gene/references" ], "id": "RGD:737318" }, { "pages": [ "gene" ], "id": "HGNC:145" }, { "id": "RGD:737318" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTL10", "geneSynopsis": "Predicted to be active in actin cytoskeleton. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "actin like 10", "basicGeneticEntity": { "synonyms": [ "C20orf134", "actin-like 10", "actin-like protein 10", "dJ63M2.2", "putative uncharacterized actin family protein C20orf134" ], "secondaryIds": [ "RGD:1346529" ], "genomeLocations": [ { "strand": "+", "endPosition": 33668525, "chromosome": "20", "assembly": "GRCh38", "startPosition": 33666943 } ], "primaryId": "HGNC:16127", "crossReferences": [ { "id": "ENSEMBL:ENSG00000288649" }, { "id": "ENSEMBL:ENSG00000182584" }, { "id": "NCBI_Gene:170487" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:Q5JWF8" }, { "pages": [ "gene/references" ], "id": "RGD:1346529" }, { "pages": [ "gene" ], "id": "HGNC:16127" }, { "id": "RGD:1346529" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTL11P", "geneSynopsis": "INTERACTS WITH bisphenol A (ortholog); sodium fluoride (ortholog)", "soTermId": "SO:0000336", "name": "actin like 11, pseudogene", "basicGeneticEntity": { "synonyms": [ "ACTB pseudogene 13", "ACTBP13", "actin, beta pseudogene 13" ], "secondaryIds": [ "RGD:7176820" ], "genomeLocations": [ { "strand": "-", "endPosition": 49877306, "chromosome": "3", "assembly": "GRCh38", "startPosition": 49873345 } ], "primaryId": "HGNC:44626", "crossReferences": [ { "id": "ENSEMBL:ENSG00000234667" }, { "id": "NCBI_Gene:389120" }, { "pages": [ "gene/references" ], "id": "RGD:7176820" }, { "pages": [ "gene" ], "id": "HGNC:44626" }, { "id": "RGD:7176820" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTL6A", "geneSynopsis": "This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "actin like 6A", "basicGeneticEntity": { "synonyms": [ "53 kDa BRG1-associated factor A", "ACTL6", "ARPN-BETA", "Arp4", "BAF complex 53 kDa subunit", "BAF53", "BAF53A", "BRG1-associated factor 53A", "INO80 complex subunit K", "INO80K", "MGC5382", "SMARCN1", "actin-like 6A", "actin-like protein 6A", "actin-related protein 4", "actin-related protein Baf53a", "arpNbeta", "hArpN beta" ], "secondaryIds": [ "RGD:1603412" ], "genomeLocations": [ { "strand": "+", "endPosition": 179588407, "chromosome": "3", "assembly": "GRCh38", "startPosition": 179562886 } ], "primaryId": "HGNC:24124", "crossReferences": [ { "id": "ENSEMBL:ENSG00000136518" }, { "id": "NCBI_Gene:86" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:O96019" }, { "pages": [ "gene/references" ], "id": "RGD:1603412" }, { "pages": [ "gene" ], "id": "HGNC:24124" }, { "id": "RGD:1603412" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTL6A-AS1", "soTermId": "SO:0001263", "name": "ACTL6A antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:625785144" ], "primaryId": "HGNC:58683", "crossReferences": [ { "id": "NCBI_Gene:142876909" }, { "pages": [ "gene/references" ], "id": "RGD:625785144" }, { "pages": [ "gene" ], "id": "HGNC:58683" }, { "id": "RGD:625785144" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTL6B", "geneSynopsis": "The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a subunit of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]", "soTermId": "SO:0001217", "name": "actin like 6B", "basicGeneticEntity": { "synonyms": [ "53 kDa BRG1-associated factor B", "ACTL6", "BAF53B", "BRG1-associated factor 53B", "DEE76", "EIEE76", "IDDSSAD", "SMARCN2", "actin-like 6", "actin-like 6B", "actin-like protein 6B", "actin-related protein Baf53b", "arpNalpha", "hArpN alpha" ], "secondaryIds": [ "RGD:1351133" ], "genomeLocations": [ { "strand": "-", "endPosition": 100656458, "chromosome": "7", "assembly": "GRCh38", "startPosition": 100643097 } ], "primaryId": "HGNC:160", "crossReferences": [ { "id": "ENSEMBL:ENSG00000077080" }, { "id": "NCBI_Gene:51412" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:O94805" }, { "pages": [ "gene/references" ], "id": "RGD:1351133" }, { "pages": [ "gene" ], "id": "HGNC:160" }, { "id": "RGD:1351133" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTL7A", "geneSynopsis": "The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "actin like 7A", "basicGeneticEntity": { "synonyms": [ "SPGF86", "actin-like 7-alpha", "actin-like 7A", "actin-like protein 7A", "actin-like-7-alpha", "testicular secretory protein Li 3" ], "secondaryIds": [ "RGD:1312292" ], "genomeLocations": [ { "strand": "+", "endPosition": 108863756, "chromosome": "9", "assembly": "GRCh38", "startPosition": 108862266 } ], "primaryId": "HGNC:161", "crossReferences": [ { "id": "ENSEMBL:ENSG00000187003" }, { "id": "NCBI_Gene:10881" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:Q9Y615" }, { "pages": [ "gene/references" ], "id": "RGD:1312292" }, { "pages": [ "gene" ], "id": "HGNC:161" }, { "id": "RGD:1312292" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTL7B", "geneSynopsis": "The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7B), and related gene, ACTL7A, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7B gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. Unlike ACTL7A, the ACTL7B gene is expressed predominantly in the testis, however, its exact function is not known. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "actin like 7B", "basicGeneticEntity": { "synonyms": [ "Tact1", "actin-like 7-beta", "actin-like 7B", "actin-like protein 7B", "actin-like-7-beta", "testis tissue sperm-binding protein Li 43a" ], "secondaryIds": [ "RGD:1313810" ], "genomeLocations": [ { "strand": "-", "endPosition": 108855986, "chromosome": "9", "assembly": "GRCh38", "startPosition": 108854588 } ], "primaryId": "HGNC:162", "crossReferences": [ { "id": "ENSEMBL:ENSG00000148156" }, { "id": "NCBI_Gene:10880" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:Q9Y614" }, { "pages": [ "gene/references" ], "id": "RGD:1313810" }, { "pages": [ "gene" ], "id": "HGNC:162" }, { "id": "RGD:1313810" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTL8", "geneSynopsis": "Predicted to enable protein kinase binding activity. Predicted to be a structural constituent of postsynaptic actin cytoskeleton. Involved in epithelial cell differentiation. Predicted to be located in cytoskeleton. Predicted to be part of NuA4 histone acetyltransferase complex. Predicted to be active in several cellular components, including actin filament; axon; and synapse. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "actin like 8", "basicGeneticEntity": { "synonyms": [ "CT57", "actin like protein", "actin-like 8", "actin-like protein 8", "cancer/testis antigen 57" ], "secondaryIds": [ "RGD:1602092" ], "genomeLocations": [ { "strand": "+", "endPosition": 17827063, "chromosome": "1", "assembly": "GRCh38", "startPosition": 17755333 } ], "primaryId": "HGNC:24018", "crossReferences": [ { "id": "ENSEMBL:ENSG00000117148" }, { "id": "NCBI_Gene:81569" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:Q9H568" }, { "pages": [ "gene/references" ], "id": "RGD:1602092" }, { "pages": [ "gene" ], "id": "HGNC:24018" }, { "id": "RGD:1602092" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTL9", "geneSynopsis": "Involved in acrosome assembly and fertilization. Located in acrosomal vesicle; perinuclear theca; and sperm head. Implicated in spermatogenic failure 53. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "actin like 9", "basicGeneticEntity": { "synonyms": [ "HSD21", "MGC33407", "SPGF53", "actin-like 9", "actin-like protein 9", "testicular tissue protein Li 15", "testicular tissue protein Li 9" ], "secondaryIds": [ "RGD:1602048" ], "genomeLocations": [ { "strand": "-", "endPosition": 8698795, "chromosome": "19", "assembly": "GRCh38", "startPosition": 8697400 } ], "primaryId": "HGNC:28494", "crossReferences": [ { "id": "ENSEMBL:ENSG00000181786" }, { "id": "NCBI_Gene:284382" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:Q8TC94" }, { "pages": [ "gene/references" ], "id": "RGD:1602048" }, { "pages": [ "gene" ], "id": "HGNC:28494" }, { "id": "RGD:1602048" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTMAP", "geneSynopsis": "Enables cysteine-type aminopeptidase activity and initiator methionyl aminopeptidase activity. Involved in protein processing. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "actin maturation protease", "basicGeneticEntity": { "synonyms": [ "C19orf54", "FLJ17063", "FLJ41131", "MGC103014", "UPF0692 protein C19orf54", "actin aminopeptidase ACTMAP", "chromosome 19 open reading frame 54", "hypothetical protein LOC284325" ], "secondaryIds": [ "RGD:1604490" ], "genomeLocations": [ { "strand": "-", "endPosition": 40751803, "chromosome": "19", "assembly": "GRCh38", "startPosition": 40740856 } ], "primaryId": "HGNC:24758", "crossReferences": [ { "id": "ENSEMBL:ENSG00000188493" }, { "id": "NCBI_Gene:284325" }, { "id": "PANTHER:PTHR28631" }, { "id": "UniProtKB:Q5BKX5" }, { "pages": [ "gene/references" ], "id": "RGD:1604490" }, { "pages": [ "gene" ], "id": "HGNC:24758" }, { "id": "RGD:1604490" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTN1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "actinin alpha 1", "basicGeneticEntity": { "synonyms": [ "BDPLT15", "F-actin cross-linking protein", "FLJ40884", "FLJ54432", "actinin 1 smooth muscle", "actinin, alpha 1", "alpha-actinin 1", "alpha-actinin cytoskeletal isoform", "alpha-actinin-1", "non-muscle alpha-actinin-1" ], "secondaryIds": [ "RGD:736411" ], "genomeLocations": [ { "strand": "-", "endPosition": 68980277, "chromosome": "14", "assembly": "GRCh38", "startPosition": 68874121 } ], "primaryId": "HGNC:163", "crossReferences": [ { "id": "ENSEMBL:ENSG00000072110" }, { "id": "NCBI_Gene:87" }, { "id": "PANTHER:PTHR11915" }, { "id": "UniProtKB:P12814" }, { "pages": [ "gene/references" ], "id": "RGD:736411" }, { "pages": [ "gene" ], "id": "HGNC:163" }, { "id": "RGD:736411" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTN1-DT", "geneSynopsis": "INTERACTS WITH benzo[a]pyrene", "soTermId": "SO:0001263", "name": "ACTN1 divergent transcript", "basicGeneticEntity": { "synonyms": [ "ACTN1 antisense RNA 1", "ACTN1 antisense RNA 1 (non-protein coding)", "ACTN1-AS1", "C14orf84" ], "secondaryIds": [ "RGD:1350885" ], "genomeLocations": [ { "strand": "+", "endPosition": 68987463, "chromosome": "14", "assembly": "GRCh38", "startPosition": 68978862 } ], "primaryId": "HGNC:20131", "crossReferences": [ { "id": "ENSEMBL:ENSG00000259062" }, { "id": "NCBI_Gene:161159" }, { "pages": [ "gene/references" ], "id": "RGD:1350885" }, { "pages": [ "gene" ], "id": "HGNC:20131" }, { "id": "RGD:1350885" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTN2", "geneSynopsis": "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 muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]", "soTermId": "SO:0001217", "name": "actinin alpha 2", "basicGeneticEntity": { "synonyms": [ "CMD1AA", "CMH23", "CMYO8", "CMYP8", "F-actin cross-linking protein", "MPD6", "MYOCOZ", "actinin, alpha 2", "alpha-actinin skeletal muscle", "alpha-actinin-2", "truncated actinin alpha 2" ], "secondaryIds": [ "RGD:1317671" ], "genomeLocations": [ { "strand": "+", "endPosition": 236764631, "chromosome": "1", "assembly": "GRCh38", "startPosition": 236664141 } ], "primaryId": "HGNC:164", "crossReferences": [ { "id": "ENSEMBL:ENSG00000077522" }, { "id": "NCBI_Gene:88" }, { "id": "PANTHER:PTHR11915" }, { "id": "UniProtKB:P35609" }, { "pages": [ "gene/references" ], "id": "RGD:1317671" }, { "pages": [ "gene" ], "id": "HGNC:164" }, { "id": "RGD:1317671" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTN3", "geneSynopsis": "This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Apr 2024]", "soTermId": "SO:0001217", "name": "actinin alpha 3", "basicGeneticEntity": { "synonyms": [ "ACTN3D", "F-actin cross-linking protein", "MGC117002", "MGC117005", "actinin alpha 3 (gene/pseudogene)", "actinin, alpha 3", "alpha-actinin skeletal muscle", "alpha-actinin-3" ], "secondaryIds": [ "RGD:734136" ], "genomeLocations": [ { "strand": "+", "endPosition": 66563334, "chromosome": "11", "assembly": "GRCh38", "startPosition": 66546395 } ], "primaryId": "HGNC:165", "crossReferences": [ { "id": "ENSEMBL:ENSG00000248746" }, { "id": "NCBI_Gene:89" }, { "id": "PANTHER:PTHR11915" }, { "id": "UniProtKB:Q08043" }, { "pages": [ "gene/references" ], "id": "RGD:734136" }, { "pages": [ "gene" ], "id": "HGNC:165" }, { "id": "RGD:734136" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTN3-AS1", "soTermId": "SO:0001263", "name": "ACTN3 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:597621595" ], "primaryId": "HGNC:58248", "crossReferences": [ { "id": "NCBI_Gene:139355234" }, { "pages": [ "gene/references" ], "id": "RGD:597621595" }, { "pages": [ "gene" ], "id": "HGNC:58248" }, { "id": "RGD:597621595" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTN4", "geneSynopsis": "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, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "actinin alpha 4", "basicGeneticEntity": { "synonyms": [ "ACTININ-4", "DKFZp686K23158", "F-actin cross-linking protein", "FSGS", "FSGS1", "actinin alpha4 isoform", "actinin, alpha 4", "alpha-actinin-4", "focal segmental glomerulosclerosis 1", "non-muscle alpha-actinin 4" ], "secondaryIds": [ "RGD:735302" ], "genomeLocations": [ { "strand": "+", "endPosition": 38731589, "chromosome": "19", "assembly": "GRCh38", "startPosition": 38647605 } ], "primaryId": "HGNC:166", "crossReferences": [ { "id": "ENSEMBL:ENSG00000130402" }, { "id": "ENSEMBL:ENSG00000282844" }, { "id": "NCBI_Gene:81" }, { "id": "PANTHER:PTHR11915" }, { "id": "UniProtKB:O43707" }, { "pages": [ "gene/references" ], "id": "RGD:735302" }, { "pages": [ "gene" ], "id": "HGNC:166" }, { "id": "RGD:735302" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTN4-AS1", "soTermId": "SO:0001263", "name": "ACTN4 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:617301373" ], "primaryId": "HGNC:58572", "crossReferences": [ { "id": "NCBI_Gene:142592835" }, { "pages": [ "gene/references" ], "id": "RGD:617301373" }, { "pages": [ "gene" ], "id": "HGNC:58572" }, { "id": "RGD:617301373" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTN4P1", "soTermId": "SO:0000336", "name": "actinin alpha 4 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6484054" ], "genomeLocations": [ { "strand": "+", "endPosition": 116599808, "chromosome": "4", "assembly": "GRCh38", "startPosition": 116598160 } ], "primaryId": "HGNC:44028", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213493" }, { "id": "NCBI_Gene:344978" }, { "pages": [ "gene/references" ], "id": "RGD:6484054" }, { "pages": [ "gene" ], "id": "HGNC:44028" }, { "id": "RGD:6484054" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTN4P2", "geneSynopsis": "INTERACTS WITH copper atom; copper(0); resveratrol", "soTermId": "SO:0000336", "name": "actinin alpha 4 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:6483968" ], "genomeLocations": [ { "strand": "+", "endPosition": 37779538, "chromosome": "1", "assembly": "GRCh38", "startPosition": 37776637 } ], "primaryId": "HGNC:44032", "crossReferences": [ { "id": "ENSEMBL:ENSG00000214141" }, { "id": "NCBI_Gene:391026" }, { "pages": [ "gene/references" ], "id": "RGD:6483968" }, { "pages": [ "gene" ], "id": "HGNC:44032" }, { "id": "RGD:6483968" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTP1", "soTermId": "SO:0000336", "name": "actin family pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:10400097" ], "genomeLocations": [ { "strand": "+", "endPosition": 108099492, "chromosome": "2", "assembly": "GRCh38", "startPosition": 108099110 } ], "primaryId": "HGNC:51621", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229890" }, { "id": "NCBI_Gene:106480335" }, { "pages": [ "gene/references" ], "id": "RGD:10400097" }, { "pages": [ "gene" ], "id": "HGNC:51621" }, { "id": "RGD:10400097" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR10", "geneSynopsis": "Predicted to be involved in retrograde axonal transport of mitochondrion. Predicted to act upstream of or within microtubule-based movement. Predicted to be located in cytosol; extracellular region; and secretory granule. Predicted to be part of dynactin complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "actin related protein 10", "basicGeneticEntity": { "synonyms": [ "ACTR11", "Arp10", "Arp11", "HARP11", "actin related protein 10 homolog", "actin-related protein 10", "actin-related protein 10 homolog", "actin-related protein 10 homolog (S. cerevisiae)", "actin-related protein 11" ], "secondaryIds": [ "RGD:1315176" ], "genomeLocations": [ { "strand": "+", "endPosition": 58235636, "chromosome": "14", "assembly": "GRCh38", "startPosition": 58200080 } ], "primaryId": "HGNC:17372", "crossReferences": [ { "id": "ENSEMBL:ENSG00000131966" }, { "id": "NCBI_Gene:55860" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:Q9NZ32" }, { "pages": [ "gene/references" ], "id": "RGD:1315176" }, { "pages": [ "gene" ], "id": "HGNC:17372" }, { "id": "RGD:1315176" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR1A", "geneSynopsis": "This gene encodes a 42.6 kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It 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 is present in 8-13 copies per dynactin molecule, and is the most abundant molecule in the dynactin complex. It is an actin-related protein, and is approximately 60% identical at the amino acid level to conventional actin. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "actin related protein 1A", "basicGeneticEntity": { "synonyms": [ "ARP1", "ARP1 actin related protein 1 homolog A", "ARP1 actin-related protein 1 homolog A, centractin alpha", "ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)", "Arp1A", "CTRN1", "FLJ52695", "FLJ52800", "FLJ55002", "actin-RPV", "alpha-centractin", "centractin", "centrosome-associated actin homolog" ], "secondaryIds": [ "RGD:1315973" ], "genomeLocations": [ { "strand": "-", "endPosition": 102502744, "chromosome": "10", "assembly": "GRCh38", "startPosition": 102461881 } ], "primaryId": "HGNC:167", "crossReferences": [ { "id": "ENSEMBL:ENSG00000138107" }, { "id": "NCBI_Gene:10121" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:P61163" }, { "pages": [ "gene/references" ], "id": "RGD:1315973" }, { "pages": [ "gene" ], "id": "HGNC:167" }, { "id": "RGD:1315973" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR1AP1", "soTermId": "SO:0000336", "name": "ACTR1A pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AC140479.3", "ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) (ACTR1A) pseudogene" ], "secondaryIds": [ "RGD:15042252" ], "genomeLocations": [ { "strand": "+", "endPosition": 110185376, "chromosome": "2", "assembly": "GRCh38", "startPosition": 110184000 } ], "primaryId": "HGNC:54703", "crossReferences": [ { "id": "ENSEMBL:ENSG00000233370" }, { "id": "NCBI_Gene:100287074" }, { "pages": [ "gene/references" ], "id": "RGD:15042252" }, { "pages": [ "gene" ], "id": "HGNC:54703" }, { "id": "RGD:15042252" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR1B", "geneSynopsis": "This gene encodes a 42.3 kD 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 and 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, like ACTR1A, is an actin-related protein. These two proteins, which are of equal length and share 90% amino acid identity, are present in a constant ratio of approximately 1:15 in the dynactin complex. [provided by RefSeq, Aug 2008]", "soTermId": "SO:0001217", "name": "actin related protein 1B", "basicGeneticEntity": { "synonyms": [ "ARP1 actin related protein 1 homolog B", "ARP1 actin-related protein 1 homolog B, centractin beta", "ARP1 actin-related protein 1 homolog B, centractin beta (yeast)", "ARP1B", "CTRN2", "PC3", "actin-related protein 1B", "beta-centractin", "centractin beta" ], "secondaryIds": [ "RGD:1316546" ], "genomeLocations": [ { "strand": "-", "endPosition": 97664114, "chromosome": "2", "assembly": "GRCh38", "startPosition": 97655939 } ], "primaryId": "HGNC:168", "crossReferences": [ { "id": "ENSEMBL:ENSG00000115073" }, { "id": "ENSEMBL:ENSG00000291597" }, { "id": "NCBI_Gene:10120" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:P42025" }, { "pages": [ "gene/references" ], "id": "RGD:1316546" }, { "pages": [ "gene" ], "id": "HGNC:168" }, { "id": "RGD:1316546" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR2", "geneSynopsis": "The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "actin related protein 2", "basicGeneticEntity": { "synonyms": [ "ARP2", "ARP2 actin related protein 2 homolog", "ARP2 actin-related protein 2 homolog", "ARP2 actin-related protein 2 homolog (yeast)", "actin-like protein 2", "actin-related protein 2" ], "secondaryIds": [ "RGD:1321952" ], "genomeLocations": [ { "strand": "+", "endPosition": 65271253, "chromosome": "2", "assembly": "GRCh38", "startPosition": 65227745 } ], "primaryId": "HGNC:169", "crossReferences": [ { "id": "ENSEMBL:ENSG00000138071" }, { "id": "NCBI_Gene:10097" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:P61160" }, { "pages": [ "gene/references" ], "id": "RGD:1321952" }, { "pages": [ "gene" ], "id": "HGNC:169" }, { "id": "RGD:1321952" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR2P1", "soTermId": "SO:0000336", "name": "ACTR2 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "LOC100421614", "actin related protein 2 pseudogene" ], "secondaryIds": [ "RGD:38673351" ], "genomeLocations": [ { "strand": "+", "endPosition": 24688388, "chromosome": "22", "assembly": "GRCh38", "startPosition": 24686847 } ], "primaryId": "HGNC:56978", "crossReferences": [ { "id": "NCBI_Gene:100421614" }, { "pages": [ "gene/references" ], "id": "RGD:38673351" }, { "pages": [ "gene" ], "id": "HGNC:56978" }, { "id": "RGD:38673351" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR2P2", "soTermId": "SO:0000336", "name": "ACTR2 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "LOC284441", "actin related protein 2 pseudogene" ], "secondaryIds": [ "RGD:38673352" ], "genomeLocations": [ { "strand": "+", "endPosition": 20262881, "chromosome": "19", "assembly": "GRCh38", "startPosition": 20257647 } ], "primaryId": "HGNC:57006", "crossReferences": [ { "id": "NCBI_Gene:284441" }, { "pages": [ "gene/references" ], "id": "RGD:38673352" }, { "pages": [ "gene" ], "id": "HGNC:57006" }, { "id": "RGD:38673352" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR3", "geneSynopsis": "The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]", "soTermId": "SO:0001217", "name": "actin related protein 3", "basicGeneticEntity": { "synonyms": [ "ARP3", "ARP3 actin related protein 3 homolog", "ARP3 actin-related protein 3 homolog", "ARP3 actin-related protein 3 homolog (yeast)", "actin-like protein 3", "actin-related protein 3", "actin-related protein 3 homolog (yeast)" ], "secondaryIds": [ "RGD:736322" ], "genomeLocations": [ { "strand": "+", "endPosition": 113962596, "chromosome": "2", "assembly": "GRCh38", "startPosition": 113889600 } ], "primaryId": "HGNC:170", "crossReferences": [ { "id": "ENSEMBL:ENSG00000115091" }, { "id": "NCBI_Gene:10096" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:P61158" }, { "pages": [ "gene/references" ], "id": "RGD:736322" }, { "pages": [ "gene" ], "id": "HGNC:170" }, { "id": "RGD:736322" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR3-AS1", "geneSynopsis": "INTERACTS WITH Aflatoxin B2 alpha; benzo[a]pyrene; hydroquinone", "soTermId": "SO:0001263", "name": "ACTR3 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:13674170" ], "genomeLocations": [ { "strand": "-", "endPosition": 113891064, "chromosome": "2", "assembly": "GRCh38", "startPosition": 113760277 } ], "primaryId": "HGNC:53965", "crossReferences": [ { "id": "ENSEMBL:ENSG00000228857" }, { "id": "NCBI_Gene:101060091" }, { "pages": [ "gene/references" ], "id": "RGD:13674170" }, { "pages": [ "gene" ], "id": "HGNC:53965" }, { "id": "RGD:13674170" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR3B", "geneSynopsis": "This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]", "soTermId": "SO:0001217", "name": "actin related protein 3B", "basicGeneticEntity": { "synonyms": [ "ARP11", "ARP3 actin related protein 3 homolog B", "ARP3 actin-related protein 3 homolog B", "ARP3 actin-related protein 3 homolog B (yeast)", "ARP3-beta", "ARP3BETA", "DKFZp686O24114", "actin-like protein 3B", "actin-related protein 3-beta", "actin-related protein 3B", "actin-related protein ARP4", "actin-related protein Arp11" ], "secondaryIds": [ "RGD:1603621" ], "genomeLocations": [ { "strand": "+", "endPosition": 152855378, "chromosome": "7", "assembly": "GRCh38", "startPosition": 152759749 } ], "primaryId": "HGNC:17256", "crossReferences": [ { "id": "ENSEMBL:ENSG00000133627" }, { "id": "NCBI_Gene:57180" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:Q9P1U1" }, { "pages": [ "gene/references" ], "id": "RGD:1603621" }, { "pages": [ "gene" ], "id": "HGNC:17256" }, { "id": "RGD:1603621" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR3BP1", "soTermId": "SO:0000336", "name": "ACTR3B pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:3004191" ], "genomeLocations": [ { "strand": "+", "endPosition": 11397516, "chromosome": "Y", "assembly": "GRCh38", "startPosition": 11395674 } ], "primaryId": "HGNC:37724", "crossReferences": [ { "id": "ENSEMBL:ENSG00000270242" }, { "id": "NCBI_Gene:643050" }, { "pages": [ "gene/references" ], "id": "RGD:3004191" }, { "pages": [ "gene" ], "id": "HGNC:37724" }, { "id": "RGD:3004191" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR3BP2", "geneSynopsis": "INTERACTS WITH sodium arsenite", "soTermId": "SO:0000336", "name": "ACTR3B pseudogene 2", "basicGeneticEntity": { "synonyms": [ "FKSG73" ], "secondaryIds": [ "RGD:4108510" ], "genomeLocations": [ { "strand": "+", "endPosition": 91942470, "chromosome": "2", "assembly": "GRCh38", "startPosition": 91940668 } ], "primaryId": "HGNC:38677", "crossReferences": [ { "id": "ENSEMBL:ENSG00000226481" }, { "id": "NCBI_Gene:440888" }, { "pages": [ "gene/references" ], "id": "RGD:4108510" }, { "pages": [ "gene" ], "id": "HGNC:38677" }, { "id": "RGD:4108510" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR3BP3", "soTermId": "SO:0000336", "name": "ACTR3B pseudogene 3", "basicGeneticEntity": { "secondaryIds": [ "RGD:4108537" ], "genomeLocations": [ { "strand": "-", "endPosition": 32380467, "chromosome": "16", "assembly": "GRCh38", "startPosition": 32378627 } ], "primaryId": "HGNC:38678", "crossReferences": [ { "id": "ENSEMBL:ENSG00000260327" }, { "id": "NCBI_Gene:647156" }, { "pages": [ "gene/references" ], "id": "RGD:4108537" }, { "pages": [ "gene" ], "id": "HGNC:38678" }, { "id": "RGD:4108537" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR3BP4", "soTermId": "SO:0000336", "name": "ACTR3B pseudogene 4", "basicGeneticEntity": { "secondaryIds": [ "RGD:4109091" ], "genomeLocations": [ { "strand": "+", "endPosition": 102963771, "chromosome": "4", "assembly": "GRCh38", "startPosition": 102961930 } ], "primaryId": "HGNC:38681", "crossReferences": [ { "id": "ENSEMBL:ENSG00000249283" }, { "id": "NCBI_Gene:777774" }, { "pages": [ "gene/references" ], "id": "RGD:4109091" }, { "pages": [ "gene" ], "id": "HGNC:38681" }, { "id": "RGD:4109091" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR3BP5", "soTermId": "SO:0000336", "name": "ACTR3B pseudogene 5", "basicGeneticEntity": { "synonyms": [ "FKSG74" ], "secondaryIds": [ "RGD:4109585" ], "genomeLocations": [ { "strand": "+", "endPosition": 38698241, "chromosome": "10", "assembly": "GRCh38", "startPosition": 38696424 } ], "primaryId": "HGNC:38682", "crossReferences": [ { "id": "ENSEMBL:ENSG00000227264" }, { "id": "NCBI_Gene:399746" }, { "pages": [ "gene/references" ], "id": "RGD:4109585" }, { "pages": [ "gene" ], "id": "HGNC:38682" }, { "id": "RGD:4109585" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR3BP6", "soTermId": "SO:0000336", "name": "ACTR3B pseudogene 6", "basicGeneticEntity": { "synonyms": [ "ACTR3B pseudogene 7", "ACTR3BP7" ], "secondaryIds": [ "RGD:4109092" ], "genomeLocations": [ { "strand": "+", "endPosition": 16488336, "chromosome": "22", "assembly": "GRCh38", "startPosition": 16486494 }, { "strand": "+", "endPosition": 11125705, "chromosome": "22", "assembly": "GRCh38", "startPosition": 11124337 } ], "primaryId": "HGNC:38683", "crossReferences": [ { "id": "ENSEMBL:ENSG00000226444" }, { "id": "NCBI_Gene:644773" }, { "pages": [ "gene/references" ], "id": "RGD:4109092" }, { "pages": [ "gene" ], "id": "HGNC:38683" }, { "id": "RGD:4109092" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR3BP7", "soTermId": "SO:0000336", "name": "ACTR3B pseudogene 7", "basicGeneticEntity": { "secondaryIds": [ "RGD:27096024" ], "genomeLocations": [ { "strand": "+", "endPosition": 11126153, "chromosome": "22", "assembly": "GRCh38", "startPosition": 11124510 } ], "primaryId": "HGNC:54971", "crossReferences": [ { "id": "NCBI_Gene:100289004" }, { "pages": [ "gene/references" ], "id": "RGD:27096024" }, { "pages": [ "gene" ], "id": "HGNC:54971" }, { "id": "RGD:27096024" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR3C", "geneSynopsis": "Predicted to enable ATP binding activity and actin binding activity. Predicted to contribute to actin filament binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "actin related protein 3C", "basicGeneticEntity": { "synonyms": [ "ARP11", "ARP3 actin related protein 3 homolog C", "ARP3 actin-related protein 3 homolog C", "ARP3 actin-related protein 3 homolog C (yeast)", "actin-related Arp11", "actin-related protein 11", "actin-related protein 3C" ], "secondaryIds": [ "RGD:2923209" ], "genomeLocations": [ { "strand": "-", "endPosition": 150323725, "chromosome": "7", "assembly": "GRCh38", "startPosition": 149881360 } ], "primaryId": "HGNC:37282", "crossReferences": [ { "id": "ENSEMBL:ENSG00000106526" }, { "id": "NCBI_Gene:653857" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:Q9C0K3" }, { "pages": [ "gene/references" ], "id": "RGD:2923209" }, { "pages": [ "gene" ], "id": "HGNC:37282" }, { "id": "RGD:2923209" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR3P1", "soTermId": "SO:0000336", "name": "ACTR3 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:1343118" ], "genomeLocations": [ { "strand": "-", "endPosition": 21586426, "chromosome": "14", "assembly": "GRCh38", "startPosition": 21585089 } ], "primaryId": "HGNC:31820", "crossReferences": [ { "id": "NCBI_Gene:100288580" }, { "pages": [ "gene/references" ], "id": "RGD:1343118" }, { "pages": [ "gene" ], "id": "HGNC:31820" }, { "id": "RGD:1343118" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR3P2", "soTermId": "SO:0000336", "name": "ACTR3 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:4108897" ], "genomeLocations": [ { "strand": "+", "endPosition": 68772777, "chromosome": "X", "assembly": "GRCh38", "startPosition": 68771322 } ], "primaryId": "HGNC:38676", "crossReferences": [ { "id": "ENSEMBL:ENSG00000232267" }, { "id": "NCBI_Gene:100129013" }, { "pages": [ "gene/references" ], "id": "RGD:4108897" }, { "pages": [ "gene" ], "id": "HGNC:38676" }, { "id": "RGD:4108897" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR3P3", "soTermId": "SO:0000336", "name": "ACTR3 pseudogene 3", "basicGeneticEntity": { "secondaryIds": [ "RGD:4109173" ], "genomeLocations": [ { "strand": "+", "endPosition": 101164043, "chromosome": "3", "assembly": "GRCh38", "startPosition": 101163094 } ], "primaryId": "HGNC:38679", "crossReferences": [ { "id": "ENSEMBL:ENSG00000242573" }, { "id": "NCBI_Gene:100128020" }, { "pages": [ "gene/references" ], "id": "RGD:4109173" }, { "pages": [ "gene" ], "id": "HGNC:38679" }, { "id": "RGD:4109173" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR5", "geneSynopsis": "Involved in several processes, including DNA repair; chromatin remodeling; and regulation of nucleobase-containing compound metabolic process. Located in cytoplasm and nucleus. Part of Ino80 complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "actin related protein 5", "basicGeneticEntity": { "synonyms": [ "ARP5 (actin-related protein 5, yeast) homolog", "ARP5 actin related protein 5 homolog", "ARP5 actin-related protein 5 homolog", "ARP5 actin-related protein 5 homolog (yeast)", "Arp5", "FLJ12785", "INO80 complex subunit M", "INO80M", "actin-related protein 5", "hARP5", "sarcoma antigen NY-SAR-16" ], "secondaryIds": [ "RGD:1317453" ], "genomeLocations": [ { "strand": "+", "endPosition": 38772520, "chromosome": "20", "assembly": "GRCh38", "startPosition": 38748457 } ], "primaryId": "HGNC:14671", "crossReferences": [ { "id": "ENSEMBL:ENSG00000101442" }, { "id": "NCBI_Gene:79913" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:Q9H9F9" }, { "pages": [ "gene/references" ], "id": "RGD:1317453" }, { "pages": [ "gene" ], "id": "HGNC:14671" }, { "id": "RGD:1317453" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR6", "geneSynopsis": "Predicted to enable nucleosome binding activity. Involved in nucleolus organization. Located in nucleolus. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "actin related protein 6", "basicGeneticEntity": { "synonyms": [ "ARP6", "ARP6 actin related protein 6 homolog", "ARP6 actin-related protein 6 homolog", "ARP6 actin-related protein 6 homolog (yeast)", "CDA12", "FLJ13433", "HSPC281", "MSTP136", "actin-related protein 6", "hARP6", "hARPX" ], "secondaryIds": [ "RGD:1312146" ], "genomeLocations": [ { "strand": "+", "endPosition": 100241865, "chromosome": "12", "assembly": "GRCh38", "startPosition": 100199122 } ], "primaryId": "HGNC:24025", "crossReferences": [ { "id": "ENSEMBL:ENSG00000075089" }, { "id": "NCBI_Gene:64431" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:Q9GZN1" }, { "pages": [ "gene/references" ], "id": "RGD:1312146" }, { "pages": [ "gene" ], "id": "HGNC:24025" }, { "id": "RGD:1312146" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR6P1", "soTermId": "SO:0000336", "name": "ACTR6 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6771192" ], "genomeLocations": [ { "strand": "-", "endPosition": 106837601, "chromosome": "4", "assembly": "GRCh38", "startPosition": 106836498 } ], "primaryId": "HGNC:44210", "crossReferences": [ { "id": "ENSEMBL:ENSG00000248915" }, { "id": "NCBI_Gene:100421495" }, { "pages": [ "gene/references" ], "id": "RGD:6771192" }, { "pages": [ "gene" ], "id": "HGNC:44210" }, { "id": "RGD:6771192" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTR8", "geneSynopsis": "Predicted to enable ATP binding activity. Involved in several processes, including chromatin remodeling; regulation of chromosome organization; and regulation of nucleobase-containing compound metabolic process. Located in centrosome and nucleoplasm. Part of Ino80 complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "actin related protein 8", "basicGeneticEntity": { "synonyms": [ "ARP8", "ARP8 actin related protein 8 homolog", "ARP8 actin-related protein 8 homolog", "ARP8 actin-related protein 8 homolog (yeast)", "FLJ12934", "FLJ22579", "INO80 complex subunit N", "INO80N", "actin-related protein 8", "hArp8" ], "secondaryIds": [ "RGD:1323563" ], "genomeLocations": [ { "strand": "-", "endPosition": 53882198, "chromosome": "3", "assembly": "GRCh38", "startPosition": 53858992 } ], "primaryId": "HGNC:14672", "crossReferences": [ { "id": "ENSEMBL:ENSG00000113812" }, { "id": "NCBI_Gene:93973" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:Q9H981" }, { "pages": [ "gene/references" ], "id": "RGD:1323563" }, { "pages": [ "gene" ], "id": "HGNC:14672" }, { "id": "RGD:1323563" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTRT1", "geneSynopsis": "This gene encodes a protein related to the cytoskeletal protein beta-actin. This protein is a major component of the calyx in the perinuclear theca of mammalian sperm heads, and it therefore likely functions in spermatid formation. This gene is intronless and is similar to a related gene located on chromosome 1. A related pseudogene has also been identified approximately 75 kb downstream of this gene on chromosome X. [provided by RefSeq, May 2010]", "soTermId": "SO:0001217", "name": "actin related protein T1", "basicGeneticEntity": { "synonyms": [ "AIP1", "ARIP1", "ARP-T1", "ARPT1", "HSD27", "KIAA0705", "MGC26590", "actin-related protein T1" ], "secondaryIds": [ "RGD:1605289" ], "genomeLocations": [ { "strand": "-", "endPosition": 128052403, "chromosome": "X", "assembly": "GRCh38", "startPosition": 128050962 } ], "primaryId": "HGNC:24027", "crossReferences": [ { "id": "ENSEMBL:ENSG00000123165" }, { "id": "NCBI_Gene:139741" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:Q8TDG2" }, { "pages": [ "gene/references" ], "id": "RGD:1605289" }, { "pages": [ "gene" ], "id": "HGNC:24027" }, { "id": "RGD:1605289" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTRT1P1", "soTermId": "SO:0000336", "name": "ACTRT1 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:35315945" ], "genomeLocations": [ { "strand": "-", "endPosition": 128128410, "chromosome": "X", "assembly": "GRCh38", "startPosition": 128126972 } ], "primaryId": "HGNC:55127", "crossReferences": [ { "id": "NCBI_Gene:100128268" }, { "pages": [ "gene/references" ], "id": "RGD:35315945" }, { "pages": [ "gene" ], "id": "HGNC:55127" }, { "id": "RGD:35315945" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTRT2", "geneSynopsis": "The protein encoded by this intronless gene belongs to the actin family. Studies have shown that this protein may be involved in cytoskeletal organization similar to other cytoplasmic actin-related protein (ARP) subfamily members. Antibody raised against the human protein has been used to detect the protein by immunoblotting and immunofluorescence microscopy, demonstrating its specific synthesis in the testis, late in spermatid differentiation, and its localization in the calyx. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "actin related protein T2", "basicGeneticEntity": { "synonyms": [ "ARPM2", "ARPT2", "Arp-T2", "FLJ25424", "HARPM2", "actin-related protein M2", "actin-related protein T2", "actin-related protein hArpM2" ], "secondaryIds": [ "RGD:1606455" ], "genomeLocations": [ { "strand": "+", "endPosition": 3022903, "chromosome": "1", "assembly": "GRCh38", "startPosition": 3021467 } ], "primaryId": "HGNC:24026", "crossReferences": [ { "id": "ENSEMBL:ENSG00000169717" }, { "id": "NCBI_Gene:140625" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:Q8TDY3" }, { "pages": [ "gene/references" ], "id": "RGD:1606455" }, { "pages": [ "gene" ], "id": "HGNC:24026" }, { "id": "RGD:1606455" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACTRT3", "geneSynopsis": "Predicted to be located in cytoplasm; cytoskeleton; and male germ cell nucleus. Predicted to be active in actin cytoskeleton. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "actin related protein T3", "basicGeneticEntity": { "synonyms": [ "ARP-T3", "ARPM1", "MGC15664", "actin related protein M1", "actin-related protein M1", "actin-related protein T3" ], "secondaryIds": [ "RGD:1607001" ], "genomeLocations": [ { "strand": "-", "endPosition": 169769665, "chromosome": "3", "assembly": "GRCh38", "startPosition": 169765610 } ], "primaryId": "HGNC:24022", "crossReferences": [ { "id": "ENSEMBL:ENSG00000184378" }, { "id": "NCBI_Gene:84517" }, { "id": "PANTHER:PTHR11937" }, { "id": "UniProtKB:Q9BYD9" }, { "pages": [ "gene/references" ], "id": "RGD:1607001" }, { "pages": [ "gene" ], "id": "HGNC:24022" }, { "id": "RGD:1607001" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACVR1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "activin A receptor type 1", "basicGeneticEntity": { "synonyms": [ "ACTRI", "ACVR1A", "ACVRLK2", "ALK2", "FOP", "SKR1", "TGF-B superfamily receptor type I", "TSRI", "activin A receptor type I", "activin A receptor, type I", "activin A receptor, type II-like kinase 2", "activin receptor type I", "activin receptor type-1", "activin receptor-like kinase 2", "hydroxyalkyl-protein kinase", "serine/threonine-protein kinase receptor R1" ], "secondaryIds": [ "RGD:1344480" ], "genomeLocations": [ { "strand": "-", "endPosition": 157876347, "chromosome": "2", "assembly": "GRCh38", "startPosition": 157736249 } ], "primaryId": "HGNC:171", "crossReferences": [ { "id": "ENSEMBL:ENSG00000115170" }, { "id": "NCBI_Gene:90" }, { "id": "PANTHER:PTHR23255" }, { "id": "UniProtKB:Q04771" }, { "pages": [ "gene/references" ], "id": "RGD:1344480" }, { "pages": [ "gene" ], "id": "HGNC:171" }, { "id": "RGD:1344480" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACVR1B", "geneSynopsis": "This gene encodes an activin A type IB receptor. 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 and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]", "soTermId": "SO:0001217", "name": "activin A receptor type 1B", "basicGeneticEntity": { "synonyms": [ "ACTRIB", "ACVRLK4", "ALK4", "SKR2", "activin A receptor type IB", "activin A receptor, type IB", "activin A receptor, type II-like kinase 4", "activin receptor type-1B", "activin receptor-like kinase 4", "serine/threonine-protein kinase receptor R2" ], "secondaryIds": [ "RGD:1349804" ], "genomeLocations": [ { "strand": "+", "endPosition": 51997082, "chromosome": "12", "assembly": "GRCh38", "startPosition": 51951679 } ], "primaryId": "HGNC:172", "crossReferences": [ { "id": "ENSEMBL:ENSG00000135503" }, { "id": "NCBI_Gene:91" }, { "id": "PANTHER:PTHR23255" }, { "id": "UniProtKB:P36896" }, { "pages": [ "gene/references" ], "id": "RGD:1349804" }, { "pages": [ "gene" ], "id": "HGNC:172" }, { "id": "RGD:1349804" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACVR1C", "geneSynopsis": "ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "activin A receptor type 1C", "basicGeneticEntity": { "synonyms": [ "ACTR-IC", "ACVRLK7", "ALK-7", "ALK7", "activin A receptor type IC", "activin A receptor, type IC", "activin receptor type IC", "activin receptor type-1C", "activin receptor-like kinase 7" ], "secondaryIds": [ "RGD:734123" ], "genomeLocations": [ { "strand": "-", "endPosition": 157628885, "chromosome": "2", "assembly": "GRCh38", "startPosition": 157526767 } ], "primaryId": "HGNC:18123", "crossReferences": [ { "id": "ENSEMBL:ENSG00000123612" }, { "id": "NCBI_Gene:130399" }, { "id": "PANTHER:PTHR23255" }, { "id": "UniProtKB:Q8NER5" }, { "pages": [ "gene/references" ], "id": "RGD:734123" }, { "pages": [ "gene" ], "id": "HGNC:18123" }, { "id": "RGD:734123" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACVR2A", "geneSynopsis": "This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013]", "soTermId": "SO:0001217", "name": "activin A receptor type 2A", "basicGeneticEntity": { "synonyms": [ "ACTRII", "ACVR2", "activin A receptor type IIA", "activin A receptor, type IIA", "activin receptor iia", "activin receptor type-2A" ], "secondaryIds": [ "RGD:731811" ], "genomeLocations": [ { "strand": "+", "endPosition": 147930826, "chromosome": "2", "assembly": "GRCh38", "startPosition": 147844378 } ], "primaryId": "HGNC:173", "crossReferences": [ { "id": "ENSEMBL:ENSG00000121989" }, { "id": "NCBI_Gene:92" }, { "id": "PANTHER:PTHR23255" }, { "id": "UniProtKB:P27037" }, { "pages": [ "gene/references" ], "id": "RGD:731811" }, { "pages": [ "gene" ], "id": "HGNC:173" }, { "id": "RGD:731811" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACVR2B", "geneSynopsis": "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. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "activin A receptor type 2B", "basicGeneticEntity": { "synonyms": [ "ACTRIIB", "ActR-IIB", "HTX4", "MGC116908", "activin A receptor type IIB", "activin A receptor, type IIB", "activin receptor type-2B" ], "secondaryIds": [ "RGD:737613" ], "genomeLocations": [ { "strand": "+", "endPosition": 38493142, "chromosome": "3", "assembly": "GRCh38", "startPosition": 38453890 } ], "primaryId": "HGNC:174", "crossReferences": [ { "id": "ENSEMBL:ENSG00000114739" }, { "id": "NCBI_Gene:93" }, { "id": "PANTHER:PTHR23255" }, { "id": "UniProtKB:Q13705" }, { "pages": [ "gene/references" ], "id": "RGD:737613" }, { "pages": [ "gene" ], "id": "HGNC:174" }, { "id": "RGD:737613" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACVR2B-AS1", "geneSynopsis": "INTERACTS WITH benzo[a]pyrene; okadaic acid; pentanal", "soTermId": "SO:0001263", "name": "ACVR2B antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6769114" ], "genomeLocations": [ { "strand": "-", "endPosition": 38454820, "chromosome": "3", "assembly": "GRCh38", "startPosition": 38451027 } ], "primaryId": "HGNC:44161", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229589" }, { "id": "NCBI_Gene:100128640" }, { "pages": [ "gene/references" ], "id": "RGD:6769114" }, { "pages": [ "gene" ], "id": "HGNC:44161" }, { "id": "RGD:6769114" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACVRL1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "activin A receptor like type 1", "basicGeneticEntity": { "synonyms": [ "ACVRLK1", "ALK-1", "ALK1", "HHT", "HHT2", "ORW2", "SKR3", "TGF-B superfamily receptor type I", "TSR-I", "activin A receptor type II-like 1", "activin A receptor type IL", "activin A receptor, type II-like kinase 1", "activin receptor type-1-like", "activin receptor-like kinase 1", "serine/threonine-protein kinase receptor R3" ], "secondaryIds": [ "RGD:737253" ], "genomeLocations": [ { "strand": "+", "endPosition": 51923361, "chromosome": "12", "assembly": "GRCh38", "startPosition": 51906908 } ], "primaryId": "HGNC:175", "crossReferences": [ { "id": "ENSEMBL:ENSG00000139567" }, { "id": "NCBI_Gene:94" }, { "id": "PANTHER:PTHR23255" }, { "id": "UniProtKB:P37023" }, { "pages": [ "gene/references" ], "id": "RGD:737253" }, { "pages": [ "gene" ], "id": "HGNC:175" }, { "id": "RGD:737253" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACY1", "geneSynopsis": "This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. This gene is located on chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer (SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and this enzyme is the first member of a new family of zinc-binding enzymes. Mutations in this gene cause aminoacylase-1 deficiency, a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ABHD14A (abhydrolase domain containing 14A) gene, as represented in GeneID:100526760. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Nov 2010]", "soTermId": "SO:0001217", "name": "aminoacylase 1", "basicGeneticEntity": { "synonyms": [ "ACY-1", "ACY1D", "HEL-S-5", "N-acyl-L-amino-acid amidohydrolase", "acylase", "aminoacylase-1", "epididymis secretory protein Li 5" ], "secondaryIds": [ "RGD:1351880" ], "genomeLocations": [ { "strand": "+", "endPosition": 51989205, "chromosome": "3", "assembly": "GRCh38", "startPosition": 51983047 } ], "primaryId": "HGNC:177", "crossReferences": [ { "id": "ENSEMBL:ENSG00000243989" }, { "id": "NCBI_Gene:95" }, { "id": "PANTHER:PTHR45892" }, { "id": "UniProtKB:Q03154" }, { "pages": [ "gene/references" ], "id": "RGD:1351880" }, { "pages": [ "gene" ], "id": "HGNC:177" }, { "id": "RGD:1351880" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACY3", "geneSynopsis": "Predicted to enable aminoacylase activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "aminoacylase 3", "basicGeneticEntity": { "synonyms": [ "ACY-3", "ASPA2", "HCBP1", "HCV core-binding protein 1", "MGC9740", "N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming)", "acylase III", "aminoacylase-3", "aspartoacylase (aminoacylase) 3", "aspartoacylase (aminocyclase) 3", "aspartoacylase-2", "hepatitis C virus core-binding protein 1" ], "secondaryIds": [ "RGD:1352202" ], "genomeLocations": [ { "strand": "-", "endPosition": 67650900, "chromosome": "11", "assembly": "GRCh38", "startPosition": 67642551 } ], "primaryId": "HGNC:24104", "crossReferences": [ { "id": "ENSEMBL:ENSG00000132744" }, { "id": "NCBI_Gene:91703" }, { "id": "PANTHER:PTHR15162" }, { "id": "UniProtKB:Q96HD9" }, { "pages": [ "gene/references" ], "id": "RGD:1352202" }, { "pages": [ "gene" ], "id": "HGNC:24104" }, { "id": "RGD:1352202" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACYP1", "geneSynopsis": "This gene is a member of the acylphosphatase family. The encoded protein is a small cytosolic enzyme that catalyzes the hydrolysis of the carboxyl-phosphate bond of acylphosphates. Two isoenzymes have been isolated and described based on their tissue localization: erythrocyte (common) type acylphosphatase encoded by this gene, and muscle type acylphosphatase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]", "soTermId": "SO:0001217", "name": "acylphosphatase 1", "basicGeneticEntity": { "synonyms": [ "ACYPE", "acylphosphatase 1, erythrocyte (common) type", "acylphosphatase, erythrocyte isozyme", "acylphosphatase, organ-common type isozyme", "acylphosphatase-1", "acylphosphate phosphohydrolase 1" ], "secondaryIds": [ "RGD:1351089" ], "genomeLocations": [ { "strand": "-", "endPosition": 75069490, "chromosome": "14", "assembly": "GRCh38", "startPosition": 75053221 } ], "primaryId": "HGNC:179", "crossReferences": [ { "id": "ENSEMBL:ENSG00000119640" }, { "id": "NCBI_Gene:97" }, { "id": "PANTHER:PTHR10029" }, { "id": "UniProtKB:P07311" }, { "pages": [ "gene/references" ], "id": "RGD:1351089" }, { "pages": [ "gene" ], "id": "HGNC:179" }, { "id": "RGD:1351089" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ACYP2", "geneSynopsis": "Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]", "soTermId": "SO:0001217", "name": "acylphosphatase 2", "basicGeneticEntity": { "synonyms": [ "ACYM", "ACYP", "acylphosphatase 2, muscle type", "acylphosphatase, muscle type isozyme", "acylphosphatase-2", "acylphosphate phosphohydrolase 2", "testicular tissue protein Li 11" ], "secondaryIds": [ "RGD:1350765" ], "genomeLocations": [ { "strand": "+", "endPosition": 54305300, "chromosome": "2", "assembly": "GRCh38", "startPosition": 53970838 } ], "primaryId": "HGNC:180", "crossReferences": [ { "id": "ENSEMBL:ENSG00000170634" }, { "id": "NCBI_Gene:98" }, { "id": "PANTHER:PTHR10029" }, { "id": "UniProtKB:P14621" }, { "pages": [ "gene/references" ], "id": "RGD:1350765" }, { "pages": [ "gene" ], "id": "HGNC:180" }, { "id": "RGD:1350765" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADA", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "adenosine deaminase", "basicGeneticEntity": { "synonyms": [ "ADA1", "adenosine aminohydrolase", "mutant adenosine deaminase" ], "secondaryIds": [ "RGD:736149" ], "genomeLocations": [ { "strand": "-", "endPosition": 44652252, "chromosome": "20", "assembly": "GRCh38", "startPosition": 44584896 } ], "primaryId": "HGNC:186", "crossReferences": [ { "id": "ENSEMBL:ENSG00000196839" }, { "id": "NCBI_Gene:100" }, { "id": "PANTHER:PTHR11409" }, { "id": "UniProtKB:P00813" }, { "pages": [ "gene/references" ], "id": "RGD:736149" }, { "pages": [ "gene" ], "id": "HGNC:186" }, { "id": "RGD:736149" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADA2", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "adenosine deaminase 2", "basicGeneticEntity": { "synonyms": [ "ADGF", "CECR1", "IDGFL", "PAN", "SNEDS", "VAIHS", "adenosine deaminase CECR1", "cat eye syndrome chromosome region, candidate 1", "cat eye syndrome critical region protein 1" ], "secondaryIds": [ "RGD:1353390" ], "genomeLocations": [ { "strand": "-", "endPosition": 17258235, "chromosome": "22", "assembly": "GRCh38", "startPosition": 17178790 } ], "primaryId": "HGNC:1839", "crossReferences": [ { "id": "ENSEMBL:ENSG00000093072" }, { "id": "NCBI_Gene:51816" }, { "id": "PANTHER:PTHR11409" }, { "id": "UniProtKB:Q9NZK5" }, { "pages": [ "gene/references" ], "id": "RGD:1353390" }, { "pages": [ "gene" ], "id": "HGNC:1839" }, { "id": "RGD:1353390" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAD1", "geneSynopsis": "Predicted to enable double-stranded RNA adenosine deaminase activity; double-stranded RNA binding activity; and tRNA-specific adenosine deaminase activity. Predicted to be involved in RNA processing and adenosine to inosine editing. Predicted to act upstream of or within spermatid development. Predicted to be located in male germ cell nucleus. Predicted to be active in cytoplasm and nucleolus. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "adenosine deaminase domain containing 1", "basicGeneticEntity": { "synonyms": [ "FLJ32741", "Tenr", "adenosine deaminase domain containing 1 (testis-specific)", "adenosine deaminase domain-containing protein 1", "testis nuclear RNA-binding protein", "testis tissue sperm-binding protein Li 92mP" ], "secondaryIds": [ "RGD:1606972" ], "genomeLocations": [ { "strand": "+", "endPosition": 122429802, "chromosome": "4", "assembly": "GRCh38", "startPosition": 122378966 } ], "primaryId": "HGNC:30713", "crossReferences": [ { "id": "ENSEMBL:ENSG00000164113" }, { "id": "NCBI_Gene:132612" }, { "id": "PANTHER:PTHR10910" }, { "id": "UniProtKB:Q96M93" }, { "pages": [ "gene/references" ], "id": "RGD:1606972" }, { "pages": [ "gene" ], "id": "HGNC:30713" }, { "id": "RGD:1606972" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAD1-AS1", "soTermId": "SO:0001263", "name": "ADAD1 and BLTP1 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:629096417" ], "primaryId": "HGNC:58882", "crossReferences": [ { "id": "NCBI_Gene:144248944" }, { "pages": [ "gene/references" ], "id": "RGD:629096417" }, { "pages": [ "gene" ], "id": "HGNC:58882" }, { "id": "RGD:629096417" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAD1P1", "soTermId": "SO:0000336", "name": "adenosine deaminase domain containing 1 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:7174907" ], "genomeLocations": [ { "strand": "+", "endPosition": 39287898, "chromosome": "3", "assembly": "GRCh38", "startPosition": 39286734 } ], "primaryId": "HGNC:44550", "crossReferences": [ { "id": "NCBI_Gene:100422386" }, { "pages": [ "gene/references" ], "id": "RGD:7174907" }, { "pages": [ "gene" ], "id": "HGNC:44550" }, { "id": "RGD:7174907" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAD1P2", "soTermId": "SO:0000336", "name": "adenosine deaminase domain containing 1 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:7174904" ], "genomeLocations": [ { "strand": "+", "endPosition": 50064486, "chromosome": "18", "assembly": "GRCh38", "startPosition": 50063792 } ], "primaryId": "HGNC:44552", "crossReferences": [ { "id": "ENSEMBL:ENSG00000267511" }, { "id": "NCBI_Gene:100422407" }, { "pages": [ "gene/references" ], "id": "RGD:7174904" }, { "pages": [ "gene" ], "id": "HGNC:44552" }, { "id": "RGD:7174904" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAD2", "geneSynopsis": "Predicted to enable double-stranded RNA adenosine deaminase activity; double-stranded RNA binding activity; and tRNA-specific adenosine deaminase activity. Predicted to be involved in RNA processing; adenosine to inosine editing; and spermatid development. Predicted to be located in nucleus. Predicted to be active in cytoplasm and nucleolus. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "adenosine deaminase domain containing 2", "basicGeneticEntity": { "synonyms": [ "FLJ00337", "TENRL", "adenosine deaminase domain-containing protein 2", "testis nuclear RNA-binding protein-like" ], "secondaryIds": [ "RGD:1602291" ], "genomeLocations": [ { "strand": "+", "endPosition": 84197168, "chromosome": "16", "assembly": "GRCh38", "startPosition": 84191125 } ], "primaryId": "HGNC:30714", "crossReferences": [ { "id": "ENSEMBL:ENSG00000140955" }, { "id": "NCBI_Gene:161931" }, { "id": "PANTHER:PTHR10910" }, { "id": "UniProtKB:Q8NCV1" }, { "pages": [ "gene/references" ], "id": "RGD:1602291" }, { "pages": [ "gene" ], "id": "HGNC:30714" }, { "id": "RGD:1602291" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAD2-AS1", "soTermId": "SO:0001263", "name": "ADAD2 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AC009123.1", "LOC654780", "SFPQ", "novel transcript, antisense to ADAD2", "splicing factor proline/glutamine-rich" ], "secondaryIds": [ "RGD:16558967" ], "genomeLocations": [ { "strand": "-", "endPosition": 84197053, "chromosome": "16", "assembly": "GRCh38", "startPosition": 84192558 } ], "primaryId": "HGNC:58422", "crossReferences": [ { "id": "ENSEMBL:ENSG00000250685" }, { "id": "NCBI_Gene:654780" }, { "pages": [ "gene/references" ], "id": "RGD:16558967" }, { "pages": [ "gene" ], "id": "HGNC:58422" }, { "id": "RGD:16558967" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM10", "geneSynopsis": "Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many proteins including TNF-alpha and E-cadherin. Alternate splicing results in multiple transcript variants encoding different proteins that may undergo similar processing. [provided by RefSeq, Feb 2016]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase domain 10", "basicGeneticEntity": { "synonyms": [ "AD10", "AD18", "ADAM 10", "CD156c", "CDw156", "HsT18717", "MADM", "RAK", "a disintegrin and metalloprotease domain 10", "a disintegrin and metalloproteinase domain 10", "disintegrin and metalloproteinase domain-containing protein 10", "kuz", "kuzbanian protein homolog", "mammalian disintegrin-metalloprotease" ], "secondaryIds": [ "RGD:735847" ], "genomeLocations": [ { "strand": "-", "endPosition": 58749842, "chromosome": "15", "assembly": "GRCh38", "startPosition": 58588809 } ], "primaryId": "HGNC:188", "crossReferences": [ { "id": "ENSEMBL:ENSG00000137845" }, { "id": "NCBI_Gene:102" }, { "id": "PANTHER:PTHR45702" }, { "id": "UniProtKB:O14672" }, { "pages": [ "gene/references" ], "id": "RGD:735847" }, { "pages": [ "gene" ], "id": "HGNC:188" }, { "id": "RGD:735847" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM11", "geneSynopsis": "This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase domain 11", "basicGeneticEntity": { "synonyms": [ "ADAM 11", "MDC", "a disintegrin and metalloproteinase domain 11", "disintegrin and metalloproteinase domain-containing protein 11" ], "secondaryIds": [ "RGD:1316754" ], "genomeLocations": [ { "strand": "+", "endPosition": 44781846, "chromosome": "17", "assembly": "GRCh38", "startPosition": 44758988 } ], "primaryId": "HGNC:189", "crossReferences": [ { "id": "ENSEMBL:ENSG00000073670" }, { "id": "NCBI_Gene:4185" }, { "id": "PANTHER:PTHR11905" }, { "id": "UniProtKB:O75078" }, { "pages": [ "gene/references" ], "id": "RGD:1316754" }, { "pages": [ "gene" ], "id": "HGNC:189" }, { "id": "RGD:1316754" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM12", "geneSynopsis": "This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase domain 12", "basicGeneticEntity": { "synonyms": [ "ADAM12 overlapping transcript 1 (non-protein coding)", "ADAM12-OT1", "CAR10", "MCMP", "MCMPMltna", "MLTN", "MLTNA", "disintegrin and metalloproteinase domain-containing protein 12", "meltrin-alpha", "metalloprotease-disintegrin 12 transmembrane" ], "secondaryIds": [ "RGD:1317265" ], "genomeLocations": [ { "strand": "-", "endPosition": 126388477, "chromosome": "10", "assembly": "GRCh38", "startPosition": 126012381 } ], "primaryId": "HGNC:190", "crossReferences": [ { "id": "ENSEMBL:ENSG00000148848" }, { "id": "NCBI_Gene:8038" }, { "id": "PANTHER:PTHR11905" }, { "id": "UniProtKB:O43184" }, { "pages": [ "gene/references" ], "id": "RGD:1317265" }, { "pages": [ "gene" ], "id": "HGNC:190" }, { "id": "RGD:1317265" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM15", "geneSynopsis": "The protein encoded by this gene is a member of the ADAM (a disintegrin and metalloproteinase) protein family. ADAM family members are type I transmembrane glycoproteins known to be involved in cell adhesion and proteolytic ectodomain processing of cytokines and adhesion molecules. This protein contains multiple functional domains including a zinc-binding metalloprotease domain, a disintegrin-like domain, as well as a EGF-like domain. Through its disintegrin-like domain, this protein specifically interacts with the integrin beta chain, beta 3. It also interacts with Src family protein-tyrosine kinases in a phosphorylation-dependent manner, suggesting that this protein may function in cell-cell adhesion as well as in cellular signaling. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase domain 15", "basicGeneticEntity": { "synonyms": [ "ADAM 15", "MDC-15", "MDC15", "a disintegrin and metalloproteinase domain (adam) 15 (metargidin)", "a disintegrin and metalloproteinase domain 15 (metargidin)", "disintegrin and metalloproteinase domain-containing protein 15", "metalloprotease RGD disintegrin protein", "metalloproteinase-like, disintegrin-like, and cysteine-rich protein 15", "metargidin" ], "secondaryIds": [ "RGD:733223" ], "genomeLocations": [ { "strand": "+", "endPosition": 155062780, "chromosome": "1", "assembly": "GRCh38", "startPosition": 155050566 } ], "primaryId": "HGNC:193", "crossReferences": [ { "id": "ENSEMBL:ENSG00000143537" }, { "id": "NCBI_Gene:8751" }, { "id": "PANTHER:PTHR11905" }, { "id": "UniProtKB:Q13444" }, { "pages": [ "gene/references" ], "id": "RGD:733223" }, { "pages": [ "gene" ], "id": "HGNC:193" }, { "id": "RGD:733223" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM17", "geneSynopsis": "This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. The encoded protease functions in the ectodomain shedding of tumor necrosis factor-alpha, in which soluble tumor necrosis factor-alpha is released from the membrane-bound precursor. This protease also functions in the processing of numerous other substrates, including cell adhesion proteins, cytokine and growth factor receptors and epidermal growth factor (EGF) receptor ligands, and plays a prominent role in the activation of the Notch signaling pathway. Elevated expression of this gene has been observed in specific cell types derived from psoriasis, rheumatoid arthritis, multiple sclerosis and Crohn's disease patients, suggesting that the encoded protein may play a role in autoimmune disease. Additionally, this protease may play a role in viral infection through its cleavage of ACE2, the cellular receptor for SARS-CoV and SARS-CoV-2. [provided by RefSeq, Aug 2020]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase domain 17", "basicGeneticEntity": { "synonyms": [ "ADAM 17", "ADAM metallopeptidase domain 17 (tumor necrosis factor, alpha, converting enzyme)", "ADAM metallopeptidase domain 18", "ADAM18", "CD156B", "CSVP", "HYPT16", "MGC71942", "NISBD", "NISBD1", "TACE", "TNF-alpha convertase", "TNF-alpha convertase enzyme", "TNF-alpha converting enzyme", "TNF-alpha-converting enzyme", "a disintegrin and metalloproteinase 17", "a disintegrin and metalloproteinase domain 17", "cartilage snake venom-like protease", "disintegrin and metalloproteinase domain-containing protein 17", "snake venom-like protease", "tumor necrosis factor, alpha, converting enzyme" ], "secondaryIds": [ "RGD:731400" ], "genomeLocations": [ { "strand": "-", "endPosition": 9556732, "chromosome": "2", "assembly": "GRCh38", "startPosition": 9488486 } ], "primaryId": "HGNC:195", "crossReferences": [ { "id": "ENSEMBL:ENSG00000151694" }, { "id": "NCBI_Gene:6868" }, { "id": "PANTHER:PTHR45702" }, { "id": "UniProtKB:P78536" }, { "pages": [ "gene/references" ], "id": "RGD:731400" }, { "pages": [ "gene" ], "id": "HGNC:195" }, { "id": "RGD:731400" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM18", "geneSynopsis": "This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature sperm surface 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]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase domain 18", "basicGeneticEntity": { "synonyms": [ "ADAM 18", "ADAM27", "MGC41836", "MGC88272", "a disintegrin and metalloproteinase domain 18", "disintegrin and metalloproteinase domain-containing protein 18", "putative ADAM18 gene product", "tMDC III", "tMDCIII", "transmembrane metalloproteinase-like, disintegrin-like, and cysteine-rich protein III", "uncharacterized protein LOC8749" ], "secondaryIds": [ "RGD:1350533" ], "genomeLocations": [ { "strand": "+", "endPosition": 39730065, "chromosome": "8", "assembly": "GRCh38", "startPosition": 39584489 } ], "primaryId": "HGNC:196", "crossReferences": [ { "id": "ENSEMBL:ENSG00000168619" }, { "id": "ENSEMBL:ENSG00000278548" }, { "id": "NCBI_Gene:8749" }, { "id": "PANTHER:PTHR11905" }, { "id": "UniProtKB:Q9Y3Q7" }, { "pages": [ "gene/references" ], "id": "RGD:1350533" }, { "pages": [ "gene" ], "id": "HGNC:196" }, { "id": "RGD:1350533" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM19", "geneSynopsis": "This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This member is a type I transmembrane protein and serves as a marker for dendritic cell differentiation. It has been demonstrated to be an active metalloproteinase, which may be involved in normal physiological processes such as cell migration, cell adhesion, cell-cell and cell-matrix interactions, and signal transduction. It is proposed to play a role in pathological processes, such as cancer, inflammatory diseases, renal diseases, and Alzheimer's disease. [provided by RefSeq, May 2013]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase domain 19", "basicGeneticEntity": { "synonyms": [ "ADAM 19", "ADAM metallopeptidase domain 19 (meltrin beta)", "FKSG34", "MADDAM", "MLTNB", "a disintegrin and metalloproteinase domain 19 (meltrin beta)", "disintegrin and metalloproteinase domain-containing protein 19", "meltrin beta", "meltrin-beta", "metalloprotease and disintegrin dendritic antigen marker", "metalloprotease-disintegrin meltrin beta" ], "secondaryIds": [ "RGD:735923" ], "genomeLocations": [ { "strand": "-", "endPosition": 157575858, "chromosome": "5", "assembly": "GRCh38", "startPosition": 157395534 } ], "primaryId": "HGNC:197", "crossReferences": [ { "id": "ENSEMBL:ENSG00000135074" }, { "id": "NCBI_Gene:8728" }, { "id": "PANTHER:PTHR11905" }, { "id": "UniProtKB:Q9H013" }, { "pages": [ "gene/references" ], "id": "RGD:735923" }, { "pages": [ "gene" ], "id": "HGNC:197" }, { "id": "RGD:735923" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM1A", "geneSynopsis": "Predicted to act upstream of or within binding activity of sperm to zona pellucida. Predicted to be located in membrane raft. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0000336", "name": "ADAM metallopeptidase domain 1A (pseudogene)", "basicGeneticEntity": { "synonyms": [ "ADAM metallopeptidase domain 1 (fertilin alpha) pseudogene", "ADAM1", "ADAM1AP", "ADAM1P", "FTNAP", "Ftna", "PH-30a", "a disintegrin and metalloproteinase domain 1 (fertilin alpha) pseudogene" ], "secondaryIds": [ "RGD:1345474" ], "genomeLocations": [ { "strand": "+", "endPosition": 111901902, "chromosome": "12", "assembly": "GRCh38", "startPosition": 111899063 } ], "primaryId": "HGNC:187", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229186" }, { "id": "NCBI_Gene:8759" }, { "pages": [ "gene/references" ], "id": "RGD:1345474" }, { "pages": [ "gene" ], "id": "HGNC:187" }, { "id": "RGD:1345474" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM1B", "geneSynopsis": "INTERACTS WITH 1,1,1-trichloroethane (ortholog); 1,2-dichloroethane (ortholog); benzo[a]pyrene (ortholog)", "soTermId": "SO:0000336", "name": "ADAM metallopeptidase domain 1B (pseudogene)", "basicGeneticEntity": { "synonyms": [ "ADAM1BP" ], "secondaryIds": [ "RGD:6898435" ], "genomeLocations": [ { "strand": "+", "endPosition": 111929017, "chromosome": "12", "assembly": "GRCh38", "startPosition": 111927018 } ], "primaryId": "HGNC:44366", "crossReferences": [ { "id": "ENSEMBL:ENSG00000226469" }, { "id": "NCBI_Gene:100420505" }, { "pages": [ "gene/references" ], "id": "RGD:6898435" }, { "pages": [ "gene" ], "id": "HGNC:44366" }, { "id": "RGD:6898435" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM2", "geneSynopsis": "This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded protein is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase domain 2", "basicGeneticEntity": { "synonyms": [ "ADAM 2", "CRYN1", "CRYN2", "CT15", "FTNB", "PH-30", "PH-30b", "PH30", "PH30-beta", "cancer/testis antigen 15", "disintegrin and metalloproteinase domain-containing protein 2", "fertilin beta", "fertilin subunit beta" ], "secondaryIds": [ "RGD:69085" ], "genomeLocations": [ { "strand": "-", "endPosition": 39838227, "chromosome": "8", "assembly": "GRCh38", "startPosition": 39743735 } ], "primaryId": "HGNC:198", "crossReferences": [ { "id": "ENSEMBL:ENSG00000104755" }, { "id": "ENSEMBL:ENSG00000276286" }, { "id": "NCBI_Gene:2515" }, { "id": "PANTHER:PTHR11905" }, { "id": "UniProtKB:Q99965" }, { "pages": [ "gene/references" ], "id": "RGD:69085" }, { "pages": [ "gene" ], "id": "HGNC:198" }, { "id": "RGD:69085" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM20", "geneSynopsis": "This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The expression of this gene is testis-specific. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase domain 20", "basicGeneticEntity": { "synonyms": [ "ADAM 20", "a disintegrin and metalloproteinase domain 20", "disintegrin and metalloproteinase domain-containing protein 20" ], "secondaryIds": [ "RGD:1345378" ], "genomeLocations": [ { "strand": "-", "endPosition": 70579452, "chromosome": "14", "assembly": "GRCh38", "startPosition": 70522358 } ], "primaryId": "HGNC:199", "crossReferences": [ { "id": "ENSEMBL:ENSG00000134007" }, { "id": "NCBI_Gene:8748" }, { "id": "PANTHER:PTHR11905" }, { "id": "UniProtKB:O43506" }, { "pages": [ "gene/references" ], "id": "RGD:1345378" }, { "pages": [ "gene" ], "id": "HGNC:199" }, { "id": "RGD:1345378" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM20P1", "geneSynopsis": "INTERACTS WITH 2-hydroxypropanoic acid; copper atom; copper(0)", "soTermId": "SO:0000336", "name": "ADAM metallopeptidase domain 20 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "C14orf55" ], "secondaryIds": [ "RGD:1345289" ], "genomeLocations": [ { "strand": "-", "endPosition": 70483775, "chromosome": "14", "assembly": "GRCh38", "startPosition": 70453541 } ], "primaryId": "HGNC:20102", "crossReferences": [ { "id": "ENSEMBL:ENSG00000290783" }, { "id": "ENSEMBL:ENSG00000259158" }, { "id": "NCBI_Gene:317760" }, { "pages": [ "gene/references" ], "id": "RGD:1345289" }, { "pages": [ "gene" ], "id": "HGNC:20102" }, { "id": "RGD:1345289" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM20P2", "soTermId": "SO:0000336", "name": "ADAM metallopeptidase domain 20 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:6482992" ], "genomeLocations": [ { "strand": "+", "endPosition": 175576193, "chromosome": "4", "assembly": "GRCh38", "startPosition": 175574602 } ], "primaryId": "HGNC:43901", "crossReferences": [ { "id": "ENSEMBL:ENSG00000248574" }, { "id": "NCBI_Gene:100533671" }, { "pages": [ "gene/references" ], "id": "RGD:6482992" }, { "pages": [ "gene" ], "id": "HGNC:43901" }, { "id": "RGD:6482992" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM20P3", "soTermId": "SO:0000336", "name": "ADAM metallopeptidase domain 20 pseudogene 3", "basicGeneticEntity": { "secondaryIds": [ "RGD:6482940" ], "genomeLocations": [ { "strand": "-", "endPosition": 187748205, "chromosome": "4", "assembly": "GRCh38", "startPosition": 187746094 } ], "primaryId": "HGNC:43902", "crossReferences": [ { "id": "ENSEMBL:ENSG00000249162" }, { "id": "NCBI_Gene:644325" }, { "pages": [ "gene/references" ], "id": "RGD:6482940" }, { "pages": [ "gene" ], "id": "HGNC:43902" }, { "id": "RGD:6482940" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM21", "geneSynopsis": "This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The expression of this gene expression is testis-specific. [provided by RefSeq, May 2011]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase domain 21", "basicGeneticEntity": { "synonyms": [ "ADAM 21", "ADAM metallopeptidase domain 21, preproprotein", "ADAM31", "MGC125389", "a disintegrin and metalloproteinase domain 21", "disintegrin and metalloproteinase domain-containing protein 21" ], "secondaryIds": [ "RGD:1314846" ], "genomeLocations": [ { "strand": "+", "endPosition": 70460427, "chromosome": "14", "assembly": "GRCh38", "startPosition": 70417107 } ], "primaryId": "HGNC:200", "crossReferences": [ { "id": "ENSEMBL:ENSG00000139985" }, { "id": "NCBI_Gene:8747" }, { "id": "PANTHER:PTHR11905" }, { "id": "UniProtKB:Q9UKJ8" }, { "pages": [ "gene/references" ], "id": "RGD:1314846" }, { "pages": [ "gene" ], "id": "HGNC:200" }, { "id": "RGD:1314846" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM21P1", "geneSynopsis": "INTERACTS WITH aflatoxin B1; valproic acid", "soTermId": "SO:0000336", "name": "ADAM metallopeptidase domain 21 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ADAM21P", "a disintegrin and metalloproteinase domain 21 pseudogene" ], "secondaryIds": [ "RGD:1346763" ], "genomeLocations": [ { "strand": "-", "endPosition": 70247801, "chromosome": "14", "assembly": "GRCh38", "startPosition": 70245491 } ], "primaryId": "HGNC:19822", "crossReferences": [ { "id": "ENSEMBL:ENSG00000293335" }, { "id": "ENSEMBL:ENSG00000235812" }, { "id": "NCBI_Gene:145241" }, { "pages": [ "gene/references" ], "id": "RGD:1346763" }, { "pages": [ "gene" ], "id": "HGNC:19822" }, { "id": "RGD:1346763" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM22", "geneSynopsis": "This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Unlike other members of the ADAM protein family, the protein encoded by this gene lacks metalloprotease activity since it has no zinc-binding motif. This gene is highly expressed in the brain and may function as an integrin ligand in the brain. In mice, it has been shown to be essential for correct myelination in the peripheral nervous system. Alternative splicing results in several transcript variants.[provided by RefSeq, Dec 2010]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase domain 22", "basicGeneticEntity": { "synonyms": [ "ADAM 22", "DEE61", "EIEE61", "MDC2", "MGC149832", "a disintegrin and metalloproteinase domain 22", "disintegrin and metalloproteinase domain-containing protein 22", "metalloproteinase-disintegrin ADAM22-3", "metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2" ], "secondaryIds": [ "RGD:1352892" ], "genomeLocations": [ { "strand": "+", "endPosition": 88202889, "chromosome": "7", "assembly": "GRCh38", "startPosition": 87934136 } ], "primaryId": "HGNC:201", "crossReferences": [ { "id": "ENSEMBL:ENSG00000008277" }, { "id": "NCBI_Gene:53616" }, { "id": "PANTHER:PTHR11905" }, { "id": "UniProtKB:Q9P0K1" }, { "pages": [ "gene/references" ], "id": "RGD:1352892" }, { "pages": [ "gene" ], "id": "HGNC:201" }, { "id": "RGD:1352892" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM23", "geneSynopsis": "This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. It is reported that inactivation of this gene is associated with tumorigenesis in human cancers. [provided by RefSeq, May 2013]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase domain 23", "basicGeneticEntity": { "synonyms": [ "ADAM 23", "MDC-3", "MDC3", "a disintegrin and metalloproteinase domain 23", "a disintegrin and metalloproteinase domain 23 (ADAM23)", "disintegrin and metalloproteinase domain-containing protein 23", "metalloproteinase-like, disintegrin-like, and cysteine-rich protein 3" ], "secondaryIds": [ "RGD:1313949" ], "genomeLocations": [ { "strand": "+", "endPosition": 206621301, "chromosome": "2", "assembly": "GRCh38", "startPosition": 206443498 } ], "primaryId": "HGNC:202", "crossReferences": [ { "id": "ENSEMBL:ENSG00000114948" }, { "id": "NCBI_Gene:8745" }, { "id": "PANTHER:PTHR11905" }, { "id": "UniProtKB:O75077" }, { "pages": [ "gene/references" ], "id": "RGD:1313949" }, { "pages": [ "gene" ], "id": "HGNC:202" }, { "id": "RGD:1313949" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM24P", "soTermId": "SO:0000336", "name": "ADAM metallopeptidase domain 24, pseudogene", "basicGeneticEntity": { "synonyms": [ "ADAM24", "a disintegrin and metalloproteinase domain 24" ], "secondaryIds": [ "RGD:1346074" ], "genomeLocations": [ { "strand": "+", "endPosition": 17471672, "chromosome": "8", "assembly": "GRCh38", "startPosition": 17469518 } ], "primaryId": "HGNC:203", "crossReferences": [ { "id": "ENSEMBL:ENSG00000214607" }, { "id": "NCBI_Gene:646479" }, { "pages": [ "gene/references" ], "id": "RGD:1346074" }, { "pages": [ "gene" ], "id": "HGNC:203" }, { "id": "RGD:1346074" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM28", "geneSynopsis": "This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is a lymphocyte-expressed ADAM protein. This gene is present in a gene cluster with other members of the ADAM family on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase domain 28", "basicGeneticEntity": { "synonyms": [ "ADAM 28", "ADAM23", "MDC-L", "MDC-Lm", "MDC-Ls", "MDCL", "a disintegrin and metalloproteinase domain 28", "disintegrin and metalloproteinase domain-containing protein 28", "eMDC II", "eMDCII", "epididymal metalloproteinase-like, disintegrin-like, and cysteine-rich protein II", "epididymial metalloproteinase-like, disintegrin-like, and cysteine-rich protein II", "metalloproteinase-like, disintegrin-like, and cysteine-rich protein L", "metalloproteinase-like, disintegrin-like, and cysteine-rich protein-L" ], "secondaryIds": [ "RGD:1347348" ], "genomeLocations": [ { "strand": "+", "endPosition": 24359014, "chromosome": "8", "assembly": "GRCh38", "startPosition": 24294016 } ], "primaryId": "HGNC:206", "crossReferences": [ { "id": "ENSEMBL:ENSG00000042980" }, { "id": "NCBI_Gene:10863" }, { "id": "PANTHER:PTHR11905" }, { "id": "UniProtKB:Q9UKQ2" }, { "pages": [ "gene/references" ], "id": "RGD:1347348" }, { "pages": [ "gene" ], "id": "HGNC:206" }, { "id": "RGD:1347348" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM29", "geneSynopsis": "This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is highly expressed in testis and may be involved in human spermatogenesis. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase domain 29", "basicGeneticEntity": { "synonyms": [ "ADAM 29", "CT73", "a disintegrin and metalloproteinase domain 29", "cancer/testis antigen 73", "disintegrin and metalloproteinase domain-containing protein 29", "metallaproteinase-disintegrin (ADAM29)", "svph1", "testis secretory sperm-binding protein Li 207a" ], "secondaryIds": [ "RGD:1342886" ], "genomeLocations": [ { "strand": "+", "endPosition": 174978180, "chromosome": "4", "assembly": "GRCh38", "startPosition": 174829668 } ], "primaryId": "HGNC:207", "crossReferences": [ { "id": "ENSEMBL:ENSG00000168594" }, { "id": "NCBI_Gene:11086" }, { "id": "PANTHER:PTHR11905" }, { "id": "UniProtKB:Q9UKF5" }, { "pages": [ "gene/references" ], "id": "RGD:1342886" }, { "pages": [ "gene" ], "id": "HGNC:207" }, { "id": "RGD:1342886" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM30", "geneSynopsis": "This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene is testis-specific and contains a polymorphic region, resulting in isoforms with varying numbers of C-terminal repeats. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase domain 30", "basicGeneticEntity": { "synonyms": [ "ADAM 30", "a disintegrin and metalloproteinase domain 30", "disintegrin and metalloproteinase domain-containing protein 30", "svph4" ], "secondaryIds": [ "RGD:1314448" ], "genomeLocations": [ { "strand": "-", "endPosition": 119896515, "chromosome": "1", "assembly": "GRCh38", "startPosition": 119893533 } ], "primaryId": "HGNC:208", "crossReferences": [ { "id": "ENSEMBL:ENSG00000134249" }, { "id": "NCBI_Gene:11085" }, { "id": "PANTHER:PTHR11905" }, { "id": "UniProtKB:Q9UKF2" }, { "pages": [ "gene/references" ], "id": "RGD:1314448" }, { "pages": [ "gene" ], "id": "HGNC:208" }, { "id": "RGD:1314448" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM32", "geneSynopsis": "This gene encodes a member of the disintegrin family of membrane-anchored proteins that play a role in diverse biological processes such as brain development, fertilization, tumor development and inflammation. This gene is predominantly expressed in the testis. The encoded protein undergoes proteolytic processing to generate a mature polypeptide comprised of an metalloprotease, disintegrin and epidermal growth factor-like domains. This gene is located in a cluster of other disintegrin and metallopeptidase family genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase domain 32", "basicGeneticEntity": { "synonyms": [ "ADAM 32", "FLJ26299", "FLJ29004", "a disintegrin and metalloprotease domain 32", "a disintegrin and metalloproteinase domain 32", "disintegrin and metalloproteinase domain-containing protein 32", "metalloproteinase 12-like protein", "testicular tissue protein Li 13" ], "secondaryIds": [ "RGD:1345583" ], "genomeLocations": [ { "strand": "+", "endPosition": 39284917, "chromosome": "8", "assembly": "GRCh38", "startPosition": 39106990 } ], "primaryId": "HGNC:15479", "crossReferences": [ { "id": "ENSEMBL:ENSG00000197140" }, { "id": "ENSEMBL:ENSG00000275594" }, { "id": "NCBI_Gene:203102" }, { "id": "PANTHER:PTHR11905" }, { "id": "UniProtKB:Q8TC27" }, { "pages": [ "gene/references" ], "id": "RGD:1345583" }, { "pages": [ "gene" ], "id": "HGNC:15479" }, { "id": "RGD:1345583" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM33", "geneSynopsis": "This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This protein is a type I transmembrane protein implicated in asthma and bronchial hyperresponsiveness. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase domain 33", "basicGeneticEntity": { "synonyms": [ "ADAM 33", "C20orf153", "DJ964F7.1", "DKFZp434K0521", "FLJ35308", "FLJ36751", "MGC149823", "MGC71889", "a disintegrin and metalloprotease 33", "a disintegrin and metalloproteinase domain 33", "chromosome 20 open reading frame 153", "disintegrin and metalloproteinase domain-containing protein 33", "disintegrin and reprolysin metalloproteinase family protein" ], "secondaryIds": [ "RGD:1313212" ], "genomeLocations": [ { "strand": "-", "endPosition": 3682246, "chromosome": "20", "assembly": "GRCh38", "startPosition": 3667962 } ], "primaryId": "HGNC:15478", "crossReferences": [ { "id": "ENSEMBL:ENSG00000149451" }, { "id": "NCBI_Gene:80332" }, { "id": "PANTHER:PTHR11905" }, { "id": "UniProtKB:Q9BZ11" }, { "pages": [ "gene/references" ], "id": "RGD:1313212" }, { "pages": [ "gene" ], "id": "HGNC:15478" }, { "id": "RGD:1313212" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM3A", "geneSynopsis": "Predicted to be involved in fertilization and flagellated sperm motility. Predicted to act upstream of or within binding activity of sperm to zona pellucida; gene expression; and regulation of macromolecule metabolic process. Predicted to be located in membrane raft; plasma membrane; and sperm head. Predicted to be part of protein-containing complex. Predicted to be active in cell surface. Implicated in brain glioma and conjunctival squamous cell carcinoma. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0000336", "name": "ADAM metallopeptidase domain 3A (pseudogene)", "basicGeneticEntity": { "synonyms": [ "ADAM3", "ADAM3AP", "CYRN1", "a disintegrin and metalloproteinase domain 3a (cyritestin 1)", "tMDCI" ], "secondaryIds": [ "RGD:1350597" ], "genomeLocations": [ { "strand": "-", "endPosition": 39522989, "chromosome": "8", "assembly": "GRCh38", "startPosition": 39451045 } ], "primaryId": "HGNC:209", "crossReferences": [ { "id": "ENSEMBL:ENSG00000293380" }, { "id": "ENSEMBL:ENSG00000197475" }, { "id": "NCBI_Gene:1587" }, { "pages": [ "gene/references" ], "id": "RGD:1350597" }, { "pages": [ "gene" ], "id": "HGNC:209" }, { "id": "RGD:1350597" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM3B", "soTermId": "SO:0000336", "name": "ADAM metallopeptidase domain 3B (pseudogene)", "basicGeneticEntity": { "synonyms": [ "ADAM metallopeptidase domain 3B (cyritestin 2)", "CYRN2", "a disintegrin and metalloproteinase domain 3b (cyritestin 2)" ], "secondaryIds": [ "RGD:1352596" ], "genomeLocations": [ { "strand": "-", "endPosition": 49518601, "chromosome": "16", "assembly": "GRCh38", "startPosition": 49517646 } ], "primaryId": "HGNC:210", "crossReferences": [ { "id": "ENSEMBL:ENSG00000260089" }, { "id": "NCBI_Gene:1596" }, { "pages": [ "gene/references" ], "id": "RGD:1352596" }, { "pages": [ "gene" ], "id": "HGNC:210" }, { "id": "RGD:1352596" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM5", "geneSynopsis": "Predicted to be active in cell surface. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0000336", "name": "ADAM metallopeptidase domain 5 (pseudogene)", "basicGeneticEntity": { "synonyms": [ "ADAM5P", "TMDCII", "tmdc ii" ], "secondaryIds": [ "RGD:1353792" ], "genomeLocations": [ { "strand": "+", "endPosition": 39417378, "chromosome": "8", "assembly": "GRCh38", "startPosition": 39314591 } ], "primaryId": "HGNC:212", "crossReferences": [ { "id": "ENSEMBL:ENSG00000196115" }, { "id": "NCBI_Gene:255926" }, { "id": "PANTHER:PTHR11905" }, { "id": "UniProtKB:Q6NVV9" }, { "pages": [ "gene/references" ], "id": "RGD:1353792" }, { "pages": [ "gene" ], "id": "HGNC:212" }, { "id": "RGD:1353792" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM6", "geneSynopsis": "Predicted to be located in external side of plasma membrane and sperm head plasma membrane. Predicted to be part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0000336", "name": "ADAM metallopeptidase domain 6 (pseudogene)", "basicGeneticEntity": { "synonyms": [ "ADAM6P", "C14orf96", "a disintegrin and metalloproteinase domain 6", "tMDCIV" ], "secondaryIds": [ "RGD:1351124" ], "genomeLocations": [ { "strand": "-", "endPosition": 105972269, "chromosome": "14", "assembly": "GRCh38", "startPosition": 105969729 } ], "primaryId": "HGNC:213", "crossReferences": [ { "id": "ENSEMBL:ENSG00000290844" }, { "id": "ENSEMBL:ENSG00000271968" }, { "id": "NCBI_Gene:8755" }, { "pages": [ "gene/references" ], "id": "RGD:1351124" }, { "pages": [ "gene" ], "id": "HGNC:213" }, { "id": "RGD:1351124" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM7", "geneSynopsis": "This gene encodes a member of the ADAMs family of zinc proteases. These transmembrane proteins play roles in multiple processes including cell signaling, adhesion and migration. The encoded protein lacks protease activity and may play roles in protein-protein interactions and cell adhesion processes including sperm-egg fusion. Mutations in this gene may be involved in the progression of melanoma. [provided by RefSeq, Oct 2011]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase domain 7", "basicGeneticEntity": { "synonyms": [ "ADAM 7", "ADAM-7", "EAPI", "GP-83", "GP83", "a disintegrin and metalloprotease domain 7", "a disintegrin and metalloproteinase domain 7", "disintegrin and metalloproteinase domain-containing protein 7", "epididymal apical protein I", "sperm maturation-related glycoprotein GP-83" ], "secondaryIds": [ "RGD:736113" ], "genomeLocations": [ { "strand": "+", "endPosition": 24526970, "chromosome": "8", "assembly": "GRCh38", "startPosition": 24440930 } ], "primaryId": "HGNC:214", "crossReferences": [ { "id": "ENSEMBL:ENSG00000069206" }, { "id": "NCBI_Gene:8756" }, { "id": "PANTHER:PTHR11905" }, { "id": "UniProtKB:Q9H2U9" }, { "pages": [ "gene/references" ], "id": "RGD:736113" }, { "pages": [ "gene" ], "id": "HGNC:214" }, { "id": "RGD:736113" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM7-AS1", "soTermId": "SO:0001263", "name": "ADAM7, ADAMDEC1 and ADAM28 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LOC101929294", "uncharacterized LOC101929294" ], "secondaryIds": [ "RGD:38622638" ], "genomeLocations": [ { "strand": "-", "endPosition": 24548618, "chromosome": "8", "assembly": "GRCh38", "startPosition": 24295814 } ], "primaryId": "HGNC:56152", "crossReferences": [ { "id": "NCBI_Gene:101929294" }, { "pages": [ "gene/references" ], "id": "RGD:38622638" }, { "pages": [ "gene" ], "id": "HGNC:56152" }, { "id": "RGD:38622638" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM7-AS2", "soTermId": "SO:0001263", "name": "ADAM7 antisense RNA 2", "basicGeneticEntity": { "synonyms": [ "AC024958.1", "LOC101929315", "uncharacterized LOC101929315" ], "secondaryIds": [ "RGD:16559860" ], "genomeLocations": [ { "strand": "-", "endPosition": 24524887, "chromosome": "8", "assembly": "GRCh38", "startPosition": 24490312 } ], "primaryId": "HGNC:56153", "crossReferences": [ { "id": "ENSEMBL:ENSG00000253643" }, { "id": "NCBI_Gene:101929315" }, { "pages": [ "gene/references" ], "id": "RGD:16559860" }, { "pages": [ "gene" ], "id": "HGNC:56153" }, { "id": "RGD:16559860" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM8", "geneSynopsis": "This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase domain 8", "basicGeneticEntity": { "synonyms": [ "ADAM 8", "CD156", "CD156a", "MGC134985", "MS2", "a disintegrin and metalloproteinase domain 8", "cell surface antigen MS2", "disintegrin and metalloproteinase domain-containing protein 8", "human leukocyte differentiation antigen" ], "secondaryIds": [ "RGD:1343050" ], "genomeLocations": [ { "strand": "-", "endPosition": 133276909, "chromosome": "10", "assembly": "GRCh38", "startPosition": 133262416 } ], "primaryId": "HGNC:215", "crossReferences": [ { "id": "ENSEMBL:ENSG00000151651" }, { "id": "NCBI_Gene:101" }, { "id": "PANTHER:PTHR11905" }, { "id": "UniProtKB:P78325" }, { "pages": [ "gene/references" ], "id": "RGD:1343050" }, { "pages": [ "gene" ], "id": "HGNC:215" }, { "id": "RGD:1343050" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAM9", "geneSynopsis": "This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase domain 9", "basicGeneticEntity": { "synonyms": [ "ADAM 9", "ADAM metallopeptidase domain 9 (meltrin gamma)", "CORD9", "KIAA0021", "MCMP", "MDC9", "Mltng", "cellular disintegrin-related protein", "cone rod dystrophy 9", "disintegrin and metalloproteinase domain-containing protein 9", "metalloprotease/disintegrin/cysteine-rich protein 9", "myeloma cell metalloproteinase" ], "secondaryIds": [ "RGD:1321127" ], "genomeLocations": [ { "strand": "+", "endPosition": 39105445, "chromosome": "8", "assembly": "GRCh38", "startPosition": 38996754 } ], "primaryId": "HGNC:216", "crossReferences": [ { "id": "ENSEMBL:ENSG00000168615" }, { "id": "NCBI_Gene:8754" }, { "id": "PANTHER:PTHR11905" }, { "id": "UniProtKB:Q13443" }, { "pages": [ "gene/references" ], "id": "RGD:1321127" }, { "pages": [ "gene" ], "id": "HGNC:216" }, { "id": "RGD:1321127" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMDEC1", "geneSynopsis": "This encoded protein is thought to be a secreted protein belonging to the disintegrin metalloproteinase family. Its expression is upregulated during dendritic cells maturation. This protein may play an important role in dendritic cell function and their interactions with germinal center T cells. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ADAM like decysin 1", "basicGeneticEntity": { "synonyms": [ "ADAM DEC1", "ADAM-like protein decysin-1", "ADAM-like, decysin 1", "FLJ79219", "M12.219", "a disintegrin and metalloproteinase domain-like protein decysin-1", "decysin", "disintegrin protease" ], "secondaryIds": [ "RGD:1320430" ], "genomeLocations": [ { "strand": "+", "endPosition": 24406013, "chromosome": "8", "assembly": "GRCh38", "startPosition": 24384285 } ], "primaryId": "HGNC:16299", "crossReferences": [ { "id": "ENSEMBL:ENSG00000134028" }, { "id": "NCBI_Gene:27299" }, { "id": "PANTHER:PTHR11905" }, { "id": "UniProtKB:O15204" }, { "pages": [ "gene/references" ], "id": "RGD:1320430" }, { "pages": [ "gene" ], "id": "HGNC:16299" }, { "id": "RGD:1320430" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS1", "geneSynopsis": "This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) 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 protein encoded by this gene contains two disintegrin loops and three C-terminal TS motifs and has anti-angiogenic activity. The expression of this gene may be associated with various inflammatory processes as well as development of cancer cachexia. This gene is likely to be necessary for normal growth, fertility, and organ morphology and function. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 1", "basicGeneticEntity": { "synonyms": [ "A disintegrin and metalloproteinase with thrombospondin motifs 1", "ADAM metallopeptidase with thrombospondin type 1 motif, 1", "ADAM-TS 1", "ADAM-TS1", "ADAMTS-1", "C3-C5", "KIAA1346", "METH-1", "METH1", "a disintegrin and metalloproteinase with thrombospondin motifs 1 (adamts-1)", "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1", "human metalloproteinase with thrombospondin type 1 motifs", "metalloprotease and thrombospondin-1" ], "secondaryIds": [ "RGD:736845" ], "genomeLocations": [ { "strand": "-", "endPosition": 26845409, "chromosome": "21", "assembly": "GRCh38", "startPosition": 26835755 } ], "primaryId": "HGNC:217", "crossReferences": [ { "id": "ENSEMBL:ENSG00000154734" }, { "id": "NCBI_Gene:9510" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:Q9UHI8" }, { "pages": [ "gene/references" ], "id": "RGD:736845" }, { "pages": [ "gene" ], "id": "HGNC:217" }, { "id": "RGD:736845" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS10", "geneSynopsis": "This gene belongs to the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin type-1 motifs) family of zinc-dependent proteases. ADAMTS proteases are complex secreted enzymes containing a prometalloprotease domain of the reprolysin type attached to an ancillary domain with a highly conserved structure that includes at least one thrombospondin type 1 repeat. They have been demonstrated to have important roles in connective tissue organization, coagulation, inflammation, arthritis, angiogenesis and cell migration. The product of this gene plays a major role in growth and in skin, lens, and heart development. It is also a candidate gene for autosomal recessive Weill-Marchesani syndrome. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 10", "basicGeneticEntity": { "synonyms": [ "A disintegrin and metalloproteinase with thrombospondin motifs 10", "ADAM metallopeptidase with thrombospondin type 1 motif, 10", "ADAM-TS 10", "ADAM-TS10", "ADAMTS-10", "WMS", "WMS1", "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10", "zinc metalloendopeptidase" ], "secondaryIds": [ "RGD:1314467" ], "genomeLocations": [ { "strand": "-", "endPosition": 8610735, "chromosome": "19", "assembly": "GRCh38", "startPosition": 8580240 } ], "primaryId": "HGNC:13201", "crossReferences": [ { "id": "ENSEMBL:ENSG00000142303" }, { "id": "NCBI_Gene:81794" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:Q9H324" }, { "pages": [ "gene/references" ], "id": "RGD:1314467" }, { "pages": [ "gene" ], "id": "HGNC:13201" }, { "id": "RGD:1314467" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS10-AS1", "soTermId": "SO:0001263", "name": "ADAMTS10 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:617301370" ], "primaryId": "HGNC:58599", "crossReferences": [ { "id": "NCBI_Gene:142592826" }, { "pages": [ "gene/references" ], "id": "RGD:617301370" }, { "pages": [ "gene" ], "id": "HGNC:58599" }, { "id": "RGD:617301370" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS12", "geneSynopsis": "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-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 12", "basicGeneticEntity": { "synonyms": [ "A disintegrin and metalloproteinase with thrombospondin motifs 12", "ADAM metallopeptidase with thrombospondin type 1 motif, 12", "ADAM-TS 12", "ADAM-TS12", "ADAMTS-12", "PRO4389", "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12" ], "secondaryIds": [ "RGD:1316449" ], "genomeLocations": [ { "strand": "-", "endPosition": 33892019, "chromosome": "5", "assembly": "GRCh38", "startPosition": 33523535 } ], "primaryId": "HGNC:14605", "crossReferences": [ { "id": "ENSEMBL:ENSG00000151388" }, { "id": "NCBI_Gene:81792" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:P58397" }, { "pages": [ "gene/references" ], "id": "RGD:1316449" }, { "pages": [ "gene" ], "id": "HGNC:14605" }, { "id": "RGD:1316449" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS13", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 13", "basicGeneticEntity": { "synonyms": [ "13", "A disintegrin and metalloproteinase with thrombospondin motifs 13", "ADAM metallopeptidase with thrombospondin type 1 motif, 13", "ADAM-TS", "ADAM-TS 13", "ADAM-TS13", "ADAMTS-13", "C9orf8", "DKFZp434C2322", "FLJ42993", "MGC118899", "MGC118900", "TTP", "VWFCP", "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13", "vWF-CP", "vWF-cleaving protease", "von Willebrand factor-cleaving protease" ], "secondaryIds": [ "RGD:1323132" ], "genomeLocations": [ { "strand": "+", "endPosition": 133459402, "chromosome": "9", "assembly": "GRCh38", "startPosition": 133414337 } ], "primaryId": "HGNC:1366", "crossReferences": [ { "id": "ENSEMBL:ENSG00000160323" }, { "id": "ENSEMBL:ENSG00000281244" }, { "id": "NCBI_Gene:11093" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:Q76LX8" }, { "pages": [ "gene/references" ], "id": "RGD:1323132" }, { "pages": [ "gene" ], "id": "HGNC:1366" }, { "id": "RGD:1323132" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS14", "geneSynopsis": "This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) 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 enzyme. This enzyme cleaves amino-terminal propeptides from type I procollagen, a necessary step in the formation of collagen fibers. Mutations in this gene may be associated with osteoarthritis in human patients. [provided by RefSeq, May 2016]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 14", "basicGeneticEntity": { "synonyms": [ "A disintegrin and metalloproteinase with thrombospondin motifs 14", "ADAM metallopeptidase with thrombospondin type 1 motif, 14", "ADAM-TS 14", "ADAM-TS14", "ADAMTS-14", "FLJ32820", "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14", "metalloprotease-disintegrin protease" ], "secondaryIds": [ "RGD:1318933" ], "genomeLocations": [ { "strand": "+", "endPosition": 70762441, "chromosome": "10", "assembly": "GRCh38", "startPosition": 70672367 } ], "primaryId": "HGNC:14899", "crossReferences": [ { "id": "ENSEMBL:ENSG00000138316" }, { "id": "NCBI_Gene:140766" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:Q8WXS8" }, { "pages": [ "gene/references" ], "id": "RGD:1318933" }, { "pages": [ "gene" ], "id": "HGNC:14899" }, { "id": "RGD:1318933" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS15", "geneSynopsis": "This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members 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 enzyme, which may play a role in versican processing during skeletal muscle development. This gene may function as a tumor suppressor in colorectal and breast cancers. [provided by RefSeq, May 2016]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 15", "basicGeneticEntity": { "synonyms": [ "A disintegrin and metalloproteinase with thrombospondin motifs 15", "ADAM metallopeptidase with thrombospondin type 1 motif, 15", "ADAM-TS 15", "ADAM-TS15", "ADAMTS-15", "DA12", "MGC126403", "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15", "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15, preproprotein", "metalloprotease disintegrin 15 with thrombospondin domains" ], "secondaryIds": [ "RGD:1320284" ], "genomeLocations": [ { "strand": "+", "endPosition": 130476645, "chromosome": "11", "assembly": "GRCh38", "startPosition": 130448645 } ], "primaryId": "HGNC:16305", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166106" }, { "id": "NCBI_Gene:170689" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:Q8TE58" }, { "pages": [ "gene/references" ], "id": "RGD:1320284" }, { "pages": [ "gene" ], "id": "HGNC:16305" }, { "id": "RGD:1320284" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS16", "geneSynopsis": "This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members 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 protein, which may inhibit chondrosarcoma cell proliferation and migration. This gene may regulate blood pressure. [provided by RefSeq, May 2016]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 16", "basicGeneticEntity": { "synonyms": [ "A disintegrin and metalloproteinase with thrombospondin motifs 16", "ADAM metallopeptidase with thrombospondin type 1 motif, 16", "ADAM-TS 16", "ADAM-TS16", "ADAMTS-16", "ADAMTS16s", "FLJ16731", "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16" ], "secondaryIds": [ "RGD:1320722" ], "genomeLocations": [ { "strand": "+", "endPosition": 5320304, "chromosome": "5", "assembly": "GRCh38", "startPosition": 5140329 } ], "primaryId": "HGNC:17108", "crossReferences": [ { "id": "ENSEMBL:ENSG00000145536" }, { "id": "NCBI_Gene:170690" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:Q8TE57" }, { "pages": [ "gene/references" ], "id": "RGD:1320722" }, { "pages": [ "gene" ], "id": "HGNC:17108" }, { "id": "RGD:1320722" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS16-AS1", "soTermId": "SO:0001263", "name": "ADAMTS16 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:407570627" ], "genomeLocations": [ { "strand": "-", "endPosition": 5176214, "chromosome": "5", "assembly": "GRCh38", "startPosition": 5142138 } ], "primaryId": "HGNC:58093", "crossReferences": [ { "id": "ENSEMBL:ENSG00000250866" }, { "id": "NCBI_Gene:137805484" }, { "pages": [ "gene/references" ], "id": "RGD:407570627" }, { "pages": [ "gene" ], "id": "HGNC:58093" }, { "id": "RGD:407570627" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS16-DT", "geneSynopsis": "INTERACTS WITH triclosan; valproic acid", "soTermId": "SO:0001263", "name": "ADAMTS16 divergent transcript", "basicGeneticEntity": { "synonyms": [ "AC022424.1", "CTD-2297D10.2", "uncharacterized LOC101929176" ], "secondaryIds": [ "RGD:16558921" ], "genomeLocations": [ { "strand": "-", "endPosition": 5140808, "chromosome": "5", "assembly": "GRCh38", "startPosition": 5132084 } ], "primaryId": "HGNC:55548", "crossReferences": [ { "id": "ENSEMBL:ENSG00000250579" }, { "id": "NCBI_Gene:101929176" }, { "pages": [ "gene/references" ], "id": "RGD:16558921" }, { "pages": [ "gene" ], "id": "HGNC:55548" }, { "id": "RGD:16558921" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS17", "geneSynopsis": "This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members 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 protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 17", "basicGeneticEntity": { "synonyms": [ "A disintegrin and metalloproteinase with thrombospondin motifs 17", "ADAM metallopeptidase with thrombospondin type 1 motif, 17", "ADAM-TS 17", "ADAM-TS17", "ADAMTS-17", "FLJ16363", "FLJ32769", "WMS4", "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17" ], "secondaryIds": [ "RGD:1318756" ], "genomeLocations": [ { "strand": "-", "endPosition": 100342005, "chromosome": "15", "assembly": "GRCh38", "startPosition": 99971437 } ], "primaryId": "HGNC:17109", "crossReferences": [ { "id": "ENSEMBL:ENSG00000140470" }, { "id": "NCBI_Gene:170691" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:Q8TE56" }, { "pages": [ "gene/references" ], "id": "RGD:1318756" }, { "pages": [ "gene" ], "id": "HGNC:17109" }, { "id": "RGD:1318756" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS17-AS1", "soTermId": "SO:0001263", "name": "ADAMTS17 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:625776948" ], "primaryId": "HGNC:58617", "crossReferences": [ { "id": "NCBI_Gene:142761594" }, { "pages": [ "gene/references" ], "id": "RGD:625776948" }, { "pages": [ "gene" ], "id": "HGNC:58617" }, { "id": "RGD:625776948" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS18", "geneSynopsis": "This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members 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 protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 18", "basicGeneticEntity": { "synonyms": [ "A disintegrin and metalloproteinase with thrombospondin motifs 18", "ADAM metallopeptidase with thrombospondin type 1 motif, 18", "ADAM-TS 18", "ADAM-TS18", "ADAMTS-18", "ADAMTS21", "KNO2", "MMCAT", "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18", "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 21", "disintegrin and metalloprotease-like protein" ], "secondaryIds": [ "RGD:1353739" ], "genomeLocations": [ { "strand": "-", "endPosition": 77435034, "chromosome": "16", "assembly": "GRCh38", "startPosition": 77247813 } ], "primaryId": "HGNC:17110", "crossReferences": [ { "id": "ENSEMBL:ENSG00000140873" }, { "id": "NCBI_Gene:170692" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:Q8TE60" }, { "pages": [ "gene/references" ], "id": "RGD:1353739" }, { "pages": [ "gene" ], "id": "HGNC:17110" }, { "id": "RGD:1353739" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS19", "geneSynopsis": "This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) 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 protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS16, another family member. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 19", "basicGeneticEntity": { "synonyms": [ "A disintegrin and metalloproteinase with thrombospondin motifs 19", "ADAM metallopeptidase with thrombospondin type 1 motif, 19", "ADAM-TS 19", "ADAM-TS19", "ADAMTS-19", "CVDP2", "FLJ16042", "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19" ], "secondaryIds": [ "RGD:1318082" ], "genomeLocations": [ { "strand": "+", "endPosition": 129738683, "chromosome": "5", "assembly": "GRCh38", "startPosition": 129459686 } ], "primaryId": "HGNC:17111", "crossReferences": [ { "id": "ENSEMBL:ENSG00000145808" }, { "id": "NCBI_Gene:171019" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:Q8TE59" }, { "pages": [ "gene/references" ], "id": "RGD:1318082" }, { "pages": [ "gene" ], "id": "HGNC:17111" }, { "id": "RGD:1318082" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS19-AS1", "soTermId": "SO:0001263", "name": "ADAMTS19 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:8698736" ], "genomeLocations": [ { "strand": "-", "endPosition": 129466096, "chromosome": "5", "assembly": "GRCh38", "startPosition": 129351104 } ], "primaryId": "HGNC:40797", "crossReferences": [ { "id": "ENSEMBL:ENSG00000249421" }, { "id": "NCBI_Gene:103689846" }, { "pages": [ "gene/references" ], "id": "RGD:8698736" }, { "pages": [ "gene" ], "id": "HGNC:40797" }, { "id": "RGD:8698736" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS2", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 2", "basicGeneticEntity": { "synonyms": [ "A disintegrin and metalloproteinase with thrombospondin motifs 2", "ADAM metallopeptidase with thrombospondin type 1 motif, 2", "ADAM-TS 2", "ADAM-TS2", "ADAMTS-2", "ADAMTS-3", "DKFZp686F12218", "EDSDERMS", "NPI", "PC I-NP", "PCI-NP", "PCINP", "PCPNI", "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2", "hPCPNI", "pNPI", "procollagen I N-proteinase", "procollagen I/II amino propeptide-processing enzyme", "procollagen N-endopeptidase" ], "secondaryIds": [ "RGD:1321433" ], "genomeLocations": [ { "strand": "-", "endPosition": 179345461, "chromosome": "5", "assembly": "GRCh38", "startPosition": 179110853 } ], "primaryId": "HGNC:218", "crossReferences": [ { "id": "ENSEMBL:ENSG00000087116" }, { "id": "NCBI_Gene:9509" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:O95450" }, { "pages": [ "gene/references" ], "id": "RGD:1321433" }, { "pages": [ "gene" ], "id": "HGNC:218" }, { "id": "RGD:1321433" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS20", "geneSynopsis": "The protein encoded by this gene is a member of the ADAMTS family of zinc-dependent proteases. The encoded protein has a signal peptide that is cleaved to release the mature peptide, which is secreted and found in the extracellular matrix. This protein may be involved in tissue remodeling. [provided by RefSeq, Sep 2011]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 20", "basicGeneticEntity": { "synonyms": [ "A disintegrin and metalloproteinase with thrombospondin motifs 20", "ADAM metallopeptidase with thrombospondin type 1 motif, 20", "ADAM-TS 20", "ADAM-TS20", "ADAMTS-20", "GON-1", "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20", "a disintegrin-like and metalloprotease with thrombospondin type 1 motifs 20" ], "secondaryIds": [ "RGD:1317084" ], "genomeLocations": [ { "strand": "-", "endPosition": 43552203, "chromosome": "12", "assembly": "GRCh38", "startPosition": 43352763 } ], "primaryId": "HGNC:17178", "crossReferences": [ { "id": "ENSEMBL:ENSG00000173157" }, { "id": "NCBI_Gene:80070" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:P59510" }, { "pages": [ "gene/references" ], "id": "RGD:1317084" }, { "pages": [ "gene" ], "id": "HGNC:17178" }, { "id": "RGD:1317084" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS3", "geneSynopsis": "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 protease. This protease, a member of the procollagen aminopropeptidase subfamily of proteins, may play a role in the processing of type II fibrillar collagen in articular cartilage. [provided by RefSeq, Feb 2016]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 3", "basicGeneticEntity": { "synonyms": [ "A disintegrin and metalloproteinase with thrombospondin motifs 3", "ADAM metallopeptidase with thrombospondin type 1 motif, 3", "ADAM-TS 3", "ADAM-TS3", "ADAMTS-3", "ADAMTS-4", "HKLLS3", "KIAA0366", "PC II-NP", "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3", "procollagen II N-proteinase", "procollagen II amino propeptide-processing enzyme", "zinc metalloendopeptidase" ], "secondaryIds": [ "RGD:1321838" ], "genomeLocations": [ { "strand": "-", "endPosition": 72569221, "chromosome": "4", "assembly": "GRCh38", "startPosition": 72280969 } ], "primaryId": "HGNC:219", "crossReferences": [ { "id": "ENSEMBL:ENSG00000156140" }, { "id": "NCBI_Gene:9508" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:O15072" }, { "pages": [ "gene/references" ], "id": "RGD:1321838" }, { "pages": [ "gene" ], "id": "HGNC:219" }, { "id": "RGD:1321838" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS3-AS1", "soTermId": "SO:0001263", "name": "ADAMTS3 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:629021609" ], "primaryId": "HGNC:40063", "crossReferences": [ { "id": "NCBI_Gene:144093400" }, { "pages": [ "gene/references" ], "id": "RGD:629021609" }, { "pages": [ "gene" ], "id": "HGNC:40063" }, { "id": "RGD:629021609" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS3-AS2", "soTermId": "SO:0001263", "name": "ADAMTS3 antisense RNA 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:629021599" ], "primaryId": "HGNC:58811", "crossReferences": [ { "id": "NCBI_Gene:144093385" }, { "pages": [ "gene/references" ], "id": "RGD:629021599" }, { "pages": [ "gene" ], "id": "HGNC:58811" }, { "id": "RGD:629021599" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS3-AS3", "soTermId": "SO:0001263", "name": "ADAMTS3 antisense RNA 3", "basicGeneticEntity": { "secondaryIds": [ "RGD:629021558" ], "primaryId": "HGNC:58812", "crossReferences": [ { "id": "NCBI_Gene:144093406" }, { "pages": [ "gene/references" ], "id": "RGD:629021558" }, { "pages": [ "gene" ], "id": "HGNC:58812" }, { "id": "RGD:629021558" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS4", "geneSynopsis": "This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of this 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 enzyme encoded by this gene lacks a C-terminal TS motif. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The expression of this gene is upregulated in arthritic disease and this may contribute to disease progression through the degradation of aggrecan. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 4", "basicGeneticEntity": { "synonyms": [ "A disintegrin and metalloproteinase with thrombospondin motifs 4", "ADAM metallopeptidase with thrombospondin type 1 motif, 4", "ADAM-TS 4", "ADAM-TS4", "ADAMTS-2", "ADAMTS-4", "ADMP-1", "KIAA0688", "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4", "aggrecanase-1" ], "secondaryIds": [ "RGD:1346398" ], "genomeLocations": [ { "strand": "-", "endPosition": 161200509, "chromosome": "1", "assembly": "GRCh38", "startPosition": 161184302 } ], "primaryId": "HGNC:220", "crossReferences": [ { "id": "ENSEMBL:ENSG00000158859" }, { "id": "NCBI_Gene:9507" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:O75173" }, { "pages": [ "gene/references" ], "id": "RGD:1346398" }, { "pages": [ "gene" ], "id": "HGNC:220" }, { "id": "RGD:1346398" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS5", "geneSynopsis": "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 enzyme. This enzyme contains two C-terminal TS motifs and functions as an aggrecanase that cleaves aggrecan, a major proteoglycan of cartilage, and may mediate cartilage destruction in osteoarthritis. [provided by RefSeq, Feb 2016]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 5", "basicGeneticEntity": { "synonyms": [ "A disintegrin and metalloproteinase with thrombospondin motifs 5", "ADAM metallopeptidase with thrombospondin type 1 motif, 5 (aggrecanase-2)", "ADAM-TS 11", "ADAM-TS 5", "ADAM-TS5", "ADAMTS-11", "ADAMTS-5", "ADAMTS11", "ADMP-2", "FLJ36738", "a disintegrin and metalloproteinase with thrombospondin motifs 11", "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)", "aggrecanase-2" ], "secondaryIds": [ "RGD:1343923" ], "genomeLocations": [ { "strand": "-", "endPosition": 26967088, "chromosome": "21", "assembly": "GRCh38", "startPosition": 26917922 } ], "primaryId": "HGNC:221", "crossReferences": [ { "id": "ENSEMBL:ENSG00000154736" }, { "id": "NCBI_Gene:11096" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:Q9UNA0" }, { "pages": [ "gene/references" ], "id": "RGD:1343923" }, { "pages": [ "gene" ], "id": "HGNC:221" }, { "id": "RGD:1343923" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS6", "geneSynopsis": "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 enzyme. Expression of this gene may be regulated by the cytokine TNF-alpha. [provided by RefSeq, Mar 2016]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 6", "basicGeneticEntity": { "synonyms": [ "A disintegrin and metalloproteinase with thrombospondin motifs 6", "ADAM metallopeptidase with thrombospondin type 1 motif, 6", "ADAM-TS 6", "ADAM-TS6", "ADAMTS-6", "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6" ], "secondaryIds": [ "RGD:1317007" ], "genomeLocations": [ { "strand": "-", "endPosition": 65481920, "chromosome": "5", "assembly": "GRCh38", "startPosition": 65148738 } ], "primaryId": "HGNC:222", "crossReferences": [ { "id": "ENSEMBL:ENSG00000049192" }, { "id": "NCBI_Gene:11174" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:Q9UKP5" }, { "pages": [ "gene/references" ], "id": "RGD:1317007" }, { "pages": [ "gene" ], "id": "HGNC:222" }, { "id": "RGD:1317007" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS6-DT", "soTermId": "SO:0001263", "name": "ADAMTS6 divergent transcript", "basicGeneticEntity": { "secondaryIds": [ "RGD:630350466" ], "primaryId": "HGNC:59062", "crossReferences": [ { "id": "NCBI_Gene:144699905" }, { "pages": [ "gene/references" ], "id": "RGD:630350466" }, { "pages": [ "gene" ], "id": "HGNC:59062" }, { "id": "RGD:630350466" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS7", "geneSynopsis": "The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. Members of this 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 enzyme. This enzyme contains two C-terminal TS motifs and may regulate vascular smooth muscle cell (VSMC) migration. Mutations in this gene may be associated with susceptibility to coronary artery disease. [provided by RefSeq, Feb 2016]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 7", "basicGeneticEntity": { "synonyms": [ "A disintegrin and metalloproteinase with thrombospondin motifs 7", "ADAM metallopeptidase with thrombospondin type 1 motif, 7", "ADAM-TS 7", "ADAM-TS7", "ADAMTS-7", "COMPase", "DKFZp434H204", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein", "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7" ], "secondaryIds": [ "RGD:1315487" ], "genomeLocations": [ { "strand": "-", "endPosition": 78811503, "chromosome": "15", "assembly": "GRCh38", "startPosition": 78759204 } ], "primaryId": "HGNC:223", "crossReferences": [ { "id": "ENSEMBL:ENSG00000136378" }, { "id": "NCBI_Gene:11173" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:Q9UKP4" }, { "pages": [ "gene/references" ], "id": "RGD:1315487" }, { "pages": [ "gene" ], "id": "HGNC:223" }, { "id": "RGD:1315487" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS7P1", "geneSynopsis": "INTERACTS WITH 2-hydroxypropanoic acid; copper atom; copper(0)", "soTermId": "SO:0000336", "name": "ADAMTS7 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ADAMTS7 pseudogene 2", "ADAMTS7P2" ], "secondaryIds": [ "RGD:7404403" ], "genomeLocations": [ { "strand": "+", "endPosition": 82334609, "chromosome": "15", "assembly": "GRCh38", "startPosition": 82293283 } ], "primaryId": "HGNC:49407", "crossReferences": [ { "id": "ENSEMBL:ENSG00000274376" }, { "id": "NCBI_Gene:390660" }, { "pages": [ "gene/references" ], "id": "RGD:7404403" }, { "pages": [ "gene" ], "id": "HGNC:49407" }, { "id": "RGD:7404403" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS7P3", "soTermId": "SO:0000336", "name": "ADAMTS7 pseudogene 3", "basicGeneticEntity": { "secondaryIds": [ "RGD:7402203" ], "genomeLocations": [ { "strand": "+", "endPosition": 77993241, "chromosome": "15", "assembly": "GRCh38", "startPosition": 77976009 } ], "primaryId": "HGNC:49409", "crossReferences": [ { "id": "ENSEMBL:ENSG00000261143" }, { "id": "NCBI_Gene:400406" }, { "pages": [ "gene/references" ], "id": "RGD:7402203" }, { "pages": [ "gene" ], "id": "HGNC:49409" }, { "id": "RGD:7402203" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS7P4", "geneSynopsis": "INTERACTS WITH okadaic acid", "soTermId": "SO:0000336", "name": "ADAMTS7 pseudogene 4", "basicGeneticEntity": { "secondaryIds": [ "RGD:7407746" ], "genomeLocations": [ { "strand": "-", "endPosition": 85270892, "chromosome": "15", "assembly": "GRCh38", "startPosition": 85255369 } ], "primaryId": "HGNC:49410", "crossReferences": [ { "id": "ENSEMBL:ENSG00000218052" }, { "id": "NCBI_Gene:642935" }, { "pages": [ "gene/references" ], "id": "RGD:7407746" }, { "pages": [ "gene" ], "id": "HGNC:49410" }, { "id": "RGD:7407746" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS7P5", "soTermId": "SO:0000336", "name": "ADAMTS7 pseudogene 5", "basicGeneticEntity": { "synonyms": [ "ADAM metallopeptidase with thrombospondin type 1 motif 7 pseudogene", "LOC100422416" ], "secondaryIds": [ "RGD:38612805" ], "genomeLocations": [ { "strand": "-", "endPosition": 42793702, "chromosome": "22", "assembly": "GRCh38", "startPosition": 42791810 } ], "primaryId": "HGNC:56992", "crossReferences": [ { "id": "NCBI_Gene:100422416" }, { "pages": [ "gene/references" ], "id": "RGD:38612805" }, { "pages": [ "gene" ], "id": "HGNC:56992" }, { "id": "RGD:38612805" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS8", "geneSynopsis": "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 enzyme. This enzyme contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. Reduced expression of this gene has been observed in multiple human cancers and this gene has been proposed as a potential tumor suppressor. [provided by RefSeq, Feb 2016]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 8", "basicGeneticEntity": { "synonyms": [ "A disintegrin and metalloproteinase with thrombospondin motifs 8", "ADAM metallopeptidase with thrombospondin type 1 motif, 8", "ADAM-TS 8", "ADAM-TS8", "ADAMTS-8", "FLJ41712", "METH-2", "METH-8", "METH2", "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8" ], "secondaryIds": [ "RGD:1318322" ], "genomeLocations": [ { "strand": "-", "endPosition": 130428609, "chromosome": "11", "assembly": "GRCh38", "startPosition": 130404923 } ], "primaryId": "HGNC:224", "crossReferences": [ { "id": "ENSEMBL:ENSG00000134917" }, { "id": "NCBI_Gene:11095" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:Q9UP79" }, { "pages": [ "gene/references" ], "id": "RGD:1318322" }, { "pages": [ "gene" ], "id": "HGNC:224" }, { "id": "RGD:1318322" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS9", "geneSynopsis": "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. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]", "soTermId": "SO:0001217", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 9", "basicGeneticEntity": { "synonyms": [ "A disintegrin and metalloproteinase with thrombospondin motifs 9", "ADAM metallopeptidase with thrombospondin type 1 motif, 9", "ADAM-TS 9", "ADAM-TS9", "ADAMTS-9", "FLJ42955", "KIAA1312", "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9" ], "secondaryIds": [ "RGD:1315761" ], "genomeLocations": [ { "strand": "-", "endPosition": 64688000, "chromosome": "3", "assembly": "GRCh38", "startPosition": 64515654 } ], "primaryId": "HGNC:13202", "crossReferences": [ { "id": "ENSEMBL:ENSG00000163638" }, { "id": "NCBI_Gene:56999" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:Q9P2N4" }, { "pages": [ "gene/references" ], "id": "RGD:1315761" }, { "pages": [ "gene" ], "id": "HGNC:13202" }, { "id": "RGD:1315761" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS9-AS1", "geneSynopsis": "INTERACTS WITH aristolochic acid A", "soTermId": "SO:0001263", "name": "ADAMTS9 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:5144623" ], "genomeLocations": [ { "strand": "+", "endPosition": 64592757, "chromosome": "3", "assembly": "GRCh38", "startPosition": 64561322 } ], "primaryId": "HGNC:40625", "crossReferences": [ { "id": "ENSEMBL:ENSG00000241158" }, { "id": "NCBI_Gene:101929335" }, { "pages": [ "gene/references" ], "id": "RGD:5144623" }, { "pages": [ "gene" ], "id": "HGNC:40625" }, { "id": "RGD:5144623" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTS9-AS2", "geneSynopsis": "Implicated in diabetic retinopathy. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001263", "name": "ADAMTS9 antisense RNA 2", "basicGeneticEntity": { "synonyms": [ "DKFZp667E0523" ], "secondaryIds": [ "RGD:5144444" ], "genomeLocations": [ { "strand": "+", "endPosition": 65061892, "chromosome": "3", "assembly": "GRCh38", "startPosition": 64684870 } ], "primaryId": "HGNC:42435", "crossReferences": [ { "id": "ENSEMBL:ENSG00000241684" }, { "id": "NCBI_Gene:100507098" }, { "pages": [ "gene/references" ], "id": "RGD:5144444" }, { "pages": [ "gene" ], "id": "HGNC:42435" }, { "id": "RGD:5144444" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTSL1", "geneSynopsis": "This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ADAMTS like 1", "basicGeneticEntity": { "synonyms": [ "ADAM-TS related protein 1", "ADAMTS-like 1", "ADAMTS-like protein 1", "ADAMTSL-1", "ADAMTSR1", "C9orf94", "DKFZp686L03130", "FLJ35283", "FLJ41032", "FLJ46891", "MGC118803", "MGC118805", "MGC40193", "PUNCTIN", "chromosome 9 open reading frame 94", "punctin-1" ], "secondaryIds": [ "RGD:1315056" ], "genomeLocations": [ { "strand": "+", "endPosition": 18910950, "chromosome": "9", "assembly": "GRCh38", "startPosition": 17906563 } ], "primaryId": "HGNC:14632", "crossReferences": [ { "id": "ENSEMBL:ENSG00000178031" }, { "id": "NCBI_Gene:92949" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:Q8N6G6" }, { "pages": [ "gene/references" ], "id": "RGD:1315056" }, { "pages": [ "gene" ], "id": "HGNC:14632" }, { "id": "RGD:1315056" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTSL2", "geneSynopsis": "This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like 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 protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009]", "soTermId": "SO:0001217", "name": "ADAMTS like 2", "basicGeneticEntity": { "synonyms": [ "ADAMTS-like 2", "ADAMTS-like protein 2", "ADAMTSL-2", "FLJ45164", "GPHYSD1", "KIAA0605" ], "secondaryIds": [ "RGD:1343515" ], "genomeLocations": [ { "strand": "+", "endPosition": 133575522, "chromosome": "9", "assembly": "GRCh38", "startPosition": 133532164 } ], "primaryId": "HGNC:14631", "crossReferences": [ { "id": "ENSEMBL:ENSG00000197859" }, { "id": "NCBI_Gene:9719" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:Q86TH1" }, { "pages": [ "gene/references" ], "id": "RGD:1343515" }, { "pages": [ "gene" ], "id": "HGNC:14631" }, { "id": "RGD:1343515" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTSL3", "geneSynopsis": "Predicted to be involved in extracellular matrix organization. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "ADAMTS like 3", "basicGeneticEntity": { "synonyms": [ "ADAMTS-like 3", "ADAMTS-like protein 3", "ADAMTSL-3", "KIAA1233", "MGC150716", "MGC150717", "a disintegrin-like and metalloprotease domain with thrombospondin type I motifs-like 3", "punctin-2" ], "secondaryIds": [ "RGD:1313018" ], "genomeLocations": [ { "strand": "+", "endPosition": 84039842, "chromosome": "15", "assembly": "GRCh38", "startPosition": 83653683 } ], "primaryId": "HGNC:14633", "crossReferences": [ { "id": "ENSEMBL:ENSG00000156218" }, { "id": "ENSEMBL:ENSG00000291606" }, { "id": "NCBI_Gene:57188" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:P82987" }, { "pages": [ "gene/references" ], "id": "RGD:1313018" }, { "pages": [ "gene" ], "id": "HGNC:14633" }, { "id": "RGD:1313018" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTSL4", "geneSynopsis": "This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014]", "soTermId": "SO:0001217", "name": "ADAMTS like 4", "basicGeneticEntity": { "synonyms": [ "ADAMTS-like 4", "ADAMTS-like protein 4", "ADAMTSL-4", "ECTOL2", "TSRC1", "thrombospondin repeat containing 1", "thrombospondin repeat-containing protein 1" ], "secondaryIds": [ "RGD:1351069" ], "genomeLocations": [ { "strand": "+", "endPosition": 150560937, "chromosome": "1", "assembly": "GRCh38", "startPosition": 150549369 } ], "primaryId": "HGNC:19706", "crossReferences": [ { "id": "ENSEMBL:ENSG00000143382" }, { "id": "NCBI_Gene:54507" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:Q6UY14" }, { "pages": [ "gene/references" ], "id": "RGD:1351069" }, { "pages": [ "gene" ], "id": "HGNC:19706" }, { "id": "RGD:1351069" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTSL4-AS1", "geneSynopsis": "INTERACTS WITH (-)-epigallocatechin 3-gallate; aristolochic acid A; cadmium dichloride", "soTermId": "SO:0001263", "name": "ADAMTSL4 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "C1orf138" ], "secondaryIds": [ "RGD:7287931" ], "genomeLocations": [ { "strand": "-", "endPosition": 150579738, "chromosome": "1", "assembly": "GRCh38", "startPosition": 150560202 } ], "primaryId": "HGNC:32041", "crossReferences": [ { "id": "ENSEMBL:ENSG00000143384" }, { "id": "ENSEMBL:ENSG00000203804" }, { "id": "NCBI_Gene:574406" }, { "id": "UniProtKB:Q5T5F5" }, { "pages": [ "gene/references" ], "id": "RGD:7287931" }, { "pages": [ "gene" ], "id": "HGNC:32041" }, { "id": "RGD:7287931" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTSL4-AS2", "soTermId": "SO:0001263", "name": "ADAMTSL4 antisense RNA 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:14696760" ], "genomeLocations": [ { "strand": "-", "endPosition": 150557724, "chromosome": "1", "assembly": "GRCh38", "startPosition": 150548562 } ], "primaryId": "HGNC:40895", "crossReferences": [ { "id": "ENSEMBL:ENSG00000237781" }, { "id": "NCBI_Gene:100289061" }, { "pages": [ "gene/references" ], "id": "RGD:14696760" }, { "pages": [ "gene" ], "id": "HGNC:40895" }, { "id": "RGD:14696760" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAMTSL5", "geneSynopsis": "Enables heparin binding activity and microfibril binding activity. Predicted to be involved in extracellular matrix organization. Located in extracellular region and microfibril. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ADAMTS like 5", "basicGeneticEntity": { "synonyms": [ "ADAMTS-like 5", "ADAMTS-like protein 5", "ADAMTSL-5", "THSD6", "thrombospondin type-1 domain-containing protein 6", "thrombospondin, type I, domain containing 6" ], "secondaryIds": [ "RGD:1313735" ], "genomeLocations": [ { "strand": "-", "endPosition": 1513604, "chromosome": "19", "assembly": "GRCh38", "startPosition": 1505022 } ], "primaryId": "HGNC:27912", "crossReferences": [ { "id": "ENSEMBL:ENSG00000185761" }, { "id": "NCBI_Gene:339366" }, { "id": "PANTHER:PTHR13723" }, { "id": "UniProtKB:Q6ZMM2" }, { "pages": [ "gene/references" ], "id": "RGD:1313735" }, { "pages": [ "gene" ], "id": "HGNC:27912" }, { "id": "RGD:1313735" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAP1", "geneSynopsis": "Enables GTPase activator activity. Predicted to be involved in cell surface receptor signaling pathway. Located in cytosol; nucleus; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ArfGAP with dual PH domains 1", "basicGeneticEntity": { "synonyms": [ "CENTA1", "GCS1L", "arf-GAP with dual PH domain-containing protein 1", "centaurin, alpha 1", "centaurin-alpha", "centaurin-alpha-1", "cnt-a1", "p42IP4", "putative MAPK-activating protein PM25" ], "secondaryIds": [ "RGD:733651" ], "genomeLocations": [ { "strand": "-", "endPosition": 955407, "chromosome": "7", "assembly": "GRCh38", "startPosition": 897900 } ], "primaryId": "HGNC:16486", "crossReferences": [ { "id": "ENSEMBL:ENSG00000105963" }, { "id": "NCBI_Gene:11033" }, { "id": "PANTHER:PTHR46021" }, { "id": "UniProtKB:O75689" }, { "pages": [ "gene/references" ], "id": "RGD:733651" }, { "pages": [ "gene" ], "id": "HGNC:16486" }, { "id": "RGD:733651" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAP2", "geneSynopsis": "The protein encoded by this gene binds beta-tubulin and increases the stability of microtubules. The encoded protein can also translocate to the cell membrane and bind phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). In addition, this protein is a GTPase-activating protein for ADP ribosylation factor 6 and may be able to block the entry of some RNA viruses. [provided by RefSeq, Oct 2016]", "soTermId": "SO:0001217", "name": "ArfGAP with dual PH domains 2", "basicGeneticEntity": { "synonyms": [ "CENTA2", "HSA272195", "arf-GAP with dual PH domain-containing protein 2", "cent-b", "centaurin beta", "centaurin, alpha 2", "centaurin-alpha 2 protein", "centaurin-alpha-2", "cnt-a2" ], "secondaryIds": [ "RGD:734306" ], "genomeLocations": [ { "strand": "+", "endPosition": 30959945, "chromosome": "17", "assembly": "GRCh38", "startPosition": 30906344 } ], "primaryId": "HGNC:16487", "crossReferences": [ { "id": "ENSEMBL:ENSG00000184060" }, { "id": "NCBI_Gene:55803" }, { "id": "PANTHER:PTHR46021" }, { "id": "UniProtKB:Q9NPF8" }, { "pages": [ "gene/references" ], "id": "RGD:734306" }, { "pages": [ "gene" ], "id": "HGNC:16487" }, { "id": "RGD:734306" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAR", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "adenosine deaminase RNA specific", "basicGeneticEntity": { "synonyms": [ "136 kDa double-stranded RNA binding protein", "136 kDa double-stranded RNA-binding protein", "ADAR1", "AGS6", "DRADA", "DSH", "DSRAD", "G1P1", "IFI-4", "IFI4", "K88dsRBP", "P136", "RNA-specific adenosine deaminase", "adenosine deaminase acting on RNA 1-A", "adenosine deaminase, RNA specific", "adenosine deaminase, RNA-specific", "double-stranded RNA-specific adenosine deaminase", "dsRNA adenosine deaminase", "dsRNA adeonosine deaminase", "interferon-induced protein 4", "interferon-inducible protein 4" ], "secondaryIds": [ "RGD:736989" ], "genomeLocations": [ { "strand": "-", "endPosition": 154628013, "chromosome": "1", "assembly": "GRCh38", "startPosition": 154581695 } ], "primaryId": "HGNC:225", "crossReferences": [ { "id": "ENSEMBL:ENSG00000160710" }, { "id": "NCBI_Gene:103" }, { "id": "PANTHER:PTHR10910" }, { "id": "UniProtKB:P55265" }, { "pages": [ "gene/references" ], "id": "RGD:736989" }, { "pages": [ "gene" ], "id": "HGNC:225" }, { "id": "RGD:736989" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADARB1", "geneSynopsis": "This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adenosine deaminase RNA specific B1", "basicGeneticEntity": { "synonyms": [ "ADAR2", "DRABA2", "DRADA2", "NEDHYMS", "RED1", "RED1 homolog", "RNA editase", "RNA editing deaminase 1", "RNA-editing deaminase 1", "RNA-editing enzyme 1", "adenosine deaminase, RNA specific B1", "adenosine deaminase, RNA-specific, B1", "adenosine deaminase, RNA-specific, B1 (RED1 homolog rat)", "adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)", "double-stranded RNA-specific editase 1", "dsRNA adenosine deaminase", "dsRNA adenosine deaminase DRADA2", "human dsRNA adenosine deaminase DRADA2" ], "secondaryIds": [ "RGD:732582" ], "genomeLocations": [ { "strand": "+", "endPosition": 45226563, "chromosome": "21", "assembly": "GRCh38", "startPosition": 45073839 } ], "primaryId": "HGNC:226", "crossReferences": [ { "id": "ENSEMBL:ENSG00000197381" }, { "id": "NCBI_Gene:104" }, { "id": "PANTHER:PTHR10910" }, { "id": "UniProtKB:P78563" }, { "pages": [ "gene/references" ], "id": "RGD:732582" }, { "pages": [ "gene" ], "id": "HGNC:226" }, { "id": "RGD:732582" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADARB2", "geneSynopsis": "This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adenosine deaminase RNA specific B2 (inactive)", "basicGeneticEntity": { "synonyms": [ "ADAR3", "FLJ25034", "FLJ36975", "FLJ41340", "RED2", "RED2 homolog", "RNA-dependent adenosine deaminase 3", "RNA-editing deaminase 2", "RNA-editing enzyme 2", "adenosine deaminase, RNA specific B2 (inactive)", "adenosine deaminase, RNA-specific, B2 (RED1 homolog rat)", "adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2 (inactive)", "adenosine deaminase, RNA-specific, B2 (non-functional)", "adenosine deaminase, rna-specific, b2", "double-stranded RNA-specific editase B2", "dsRNA adenosine deaminase B2", "hRED2", "homolog of rat BLUE", "inactive double-stranded RNA-specific editase B2" ], "secondaryIds": [ "RGD:736199" ], "genomeLocations": [ { "strand": "-", "endPosition": 1737525, "chromosome": "10", "assembly": "GRCh38", "startPosition": 1177313 } ], "primaryId": "HGNC:227", "crossReferences": [ { "id": "ENSEMBL:ENSG00000185736" }, { "id": "NCBI_Gene:105" }, { "id": "PANTHER:PTHR10910" }, { "id": "UniProtKB:Q9NS39" }, { "pages": [ "gene/references" ], "id": "RGD:736199" }, { "pages": [ "gene" ], "id": "HGNC:227" }, { "id": "RGD:736199" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADARB2-AS1", "soTermId": "SO:0001263", "name": "ADARB2 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "C10orf109", "NCRNA00168", "bA466B20.1" ], "secondaryIds": [ "RGD:1347708" ], "genomeLocations": [ { "strand": "+", "endPosition": 1557574, "chromosome": "10", "assembly": "GRCh38", "startPosition": 1526584 } ], "primaryId": "HGNC:23299", "crossReferences": [ { "id": "ENSEMBL:ENSG00000205696" }, { "id": "NCBI_Gene:642394" }, { "id": "UniProtKB:A8MUL3" }, { "pages": [ "gene/references" ], "id": "RGD:1347708" }, { "pages": [ "gene" ], "id": "HGNC:23299" }, { "id": "RGD:1347708" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAT1", "geneSynopsis": "This gene is a member of the ADAR (adenosine deaminase acting on RNA) family. Using site-specific adenosine modification, proteins encoded by these genes participate in the pre-mRNA editing of nuclear transcripts. The protein encoded by this gene, tRNA-specific adenosine deaminase 1, is responsible for the deamination of adenosine 37 to inosine in eukaryotic tRNA. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]", "soTermId": "SO:0001217", "name": "adenosine deaminase tRNA specific 1", "basicGeneticEntity": { "synonyms": [ "HADAT1", "adenosine deaminase acting on tRNA", "adenosine deaminase, tRNA specific 1", "adenosine deaminase, tRNA-specific 1", "tRNA-specific adenosine deaminase 1", "tRNA-specific adenosine-37 deaminase" ], "secondaryIds": [ "RGD:1320789" ], "genomeLocations": [ { "strand": "-", "endPosition": 75623300, "chromosome": "16", "assembly": "GRCh38", "startPosition": 75596868 } ], "primaryId": "HGNC:228", "crossReferences": [ { "id": "ENSEMBL:ENSG00000065457" }, { "id": "NCBI_Gene:23536" }, { "id": "PANTHER:PTHR46516" }, { "id": "UniProtKB:Q9BUB4" }, { "pages": [ "gene/references" ], "id": "RGD:1320789" }, { "pages": [ "gene" ], "id": "HGNC:228" }, { "id": "RGD:1320789" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAT2", "geneSynopsis": "Predicted to enable tRNA-specific adenosine-34 deaminase activity. Predicted to be involved in tRNA wobble adenosine to inosine editing. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "adenosine deaminase tRNA specific 2", "basicGeneticEntity": { "synonyms": [ "DEADC1", "DKFZp686L1118", "FLJ44213", "TAD2", "adenosine deaminase, tRNA specific 2", "adenosine deaminase, tRNA-specific 2", "adenosine deaminase, tRNA-specific 2, TAD2 homolog", "dJ20N2", "dJ20N2.1", "deaminase domain containing 1", "deaminase domain-containing protein 1", "tRNA-specific adenosine deaminase 2", "tRNA-specific adenosine deaminase 2 homolog", "tRNA-specific adenosine-34 deaminase catalytic subunit ADAT2", "tRNA-specific adenosine-34 deaminase subunit ADAT2" ], "secondaryIds": [ "RGD:1320091" ], "genomeLocations": [ { "strand": "-", "endPosition": 143450695, "chromosome": "6", "assembly": "GRCh38", "startPosition": 143422832 } ], "primaryId": "HGNC:21172", "crossReferences": [ { "id": "ENSEMBL:ENSG00000189007" }, { "id": "NCBI_Gene:134637" }, { "id": "PANTHER:PTHR11079" }, { "id": "UniProtKB:Q7Z6V5" }, { "pages": [ "gene/references" ], "id": "RGD:1320091" }, { "pages": [ "gene" ], "id": "HGNC:21172" }, { "id": "RGD:1320091" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADAT3", "geneSynopsis": "This gene encodes a subunit of a tRNA-specific adenosine deaminase. This heterodimeric enzyme converts adenosine to inosine in the tRNA anticodon. A mutation in this gene causes a syndrome characterized by intellectual disability and strabismus. This gene shares its 5' exon with the overlapping gene, secretory carrier membrane protein 4 (Gene ID: 113178). [provided by RefSeq, Jul 2016]", "soTermId": "SO:0001217", "name": "adenosine deaminase tRNA specific 3", "basicGeneticEntity": { "synonyms": [ "FWP005", "MRT36", "MST121", "MSTP121", "NEDBGF", "S863-5", "TAD3", "adenosine deaminase, tRNA specific 3", "adenosine deaminase, tRNA-specific 3", "adenosine deaminase, tRNA-specific 3, TAD3 homolog", "probable inactive tRNA-specific adenosine deaminase-like protein 3", "tRNA-specific adenosine deaminase 3 homolog", "tRNA-specific adenosine deaminase-like protein 3", "tRNA-specific adenosine-34 deaminase regulatory subunit ADAT3", "tRNA-specific adenosine-34 deaminase subunit ADAT3" ], "secondaryIds": [ "RGD:1603369" ], "genomeLocations": [ { "strand": "+", "endPosition": 1913447, "chromosome": "19", "assembly": "GRCh38", "startPosition": 1905399 } ], "primaryId": "HGNC:25151", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213638" }, { "id": "NCBI_Gene:113179" }, { "id": "PANTHER:PTHR11079" }, { "id": "UniProtKB:Q96EY9" }, { "pages": [ "gene/references" ], "id": "RGD:1603369" }, { "pages": [ "gene" ], "id": "HGNC:25151" }, { "id": "RGD:1603369" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADCK1", "geneSynopsis": "Predicted to enable ATP binding activity and protein serine/threonine kinase activity. Involved in negative regulation of mitochondrial fusion and positive regulation of cristae formation. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "aarF domain containing kinase 1", "basicGeneticEntity": { "synonyms": [ "FLJ39600", "MCP2", "aarF domain-containing protein kinase 1", "uncharacterized aarF domain-containing protein kinase 1" ], "secondaryIds": [ "RGD:1317936" ], "genomeLocations": [ { "strand": "+", "endPosition": 77935014, "chromosome": "14", "assembly": "GRCh38", "startPosition": 77800064 } ], "primaryId": "HGNC:19038", "crossReferences": [ { "id": "ENSEMBL:ENSG00000063761" }, { "id": "NCBI_Gene:57143" }, { "id": "PANTHER:PTHR43173" }, { "id": "UniProtKB:Q86TW2" }, { "pages": [ "gene/references" ], "id": "RGD:1317936" }, { "pages": [ "gene" ], "id": "HGNC:19038" }, { "id": "RGD:1317936" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADCK2", "geneSynopsis": "Predicted to enable ATP binding activity and protein serine/threonine kinase activity. Involved in regulation of ubiquinone biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "aarF domain containing kinase 2", "basicGeneticEntity": { "synonyms": [ "AARF", "MGC20727", "putative aarF domain-containing protein kinase 2", "putative ubiquinone biosynthesis protein AarF", "uncharacterized aarF domain-containing protein kinase 2" ], "secondaryIds": [ "RGD:1322312" ], "genomeLocations": [ { "strand": "+", "endPosition": 140696261, "chromosome": "7", "assembly": "GRCh38", "startPosition": 140672885 } ], "primaryId": "HGNC:19039", "crossReferences": [ { "id": "ENSEMBL:ENSG00000133597" }, { "id": "NCBI_Gene:90956" }, { "id": "PANTHER:PTHR45890" }, { "id": "UniProtKB:Q7Z695" }, { "pages": [ "gene/references" ], "id": "RGD:1322312" }, { "pages": [ "gene" ], "id": "HGNC:19039" }, { "id": "RGD:1322312" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADCK5", "geneSynopsis": "Predicted to enable protein serine/threonine kinase activity. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "aarF domain containing kinase 5", "basicGeneticEntity": { "synonyms": [ "FLJ35454", "MGC126708", "putative aarF domain-containing protein kinase 5", "uncharacterized aarF domain-containing protein kinase 5" ], "secondaryIds": [ "RGD:1313570" ], "genomeLocations": [ { "strand": "+", "endPosition": 144393242, "chromosome": "8", "assembly": "GRCh38", "startPosition": 144373088 } ], "primaryId": "HGNC:21738", "crossReferences": [ { "id": "ENSEMBL:ENSG00000173137" }, { "id": "ENSEMBL:ENSG00000285451" }, { "id": "NCBI_Gene:203054" }, { "id": "PANTHER:PTHR43173" }, { "id": "UniProtKB:Q3MIX3" }, { "pages": [ "gene/references" ], "id": "RGD:1313570" }, { "pages": [ "gene" ], "id": "HGNC:21738" }, { "id": "RGD:1313570" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADCY1", "geneSynopsis": "This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]", "soTermId": "SO:0001217", "name": "adenylate cyclase 1", "basicGeneticEntity": { "synonyms": [ "3',5'-cyclic AMP synthetase", "AC1", "ATP pyrophosphate-lyase 1", "Ca(2+)/calmodulin-activated adenylyl cyclase", "DFNB44", "adenyl cyclase", "adenylate cyclase 1 (brain)", "adenylate cyclase type 1", "adenylate cyclase type I", "adenylyl cyclase 1", "adenylyl cyclase subtype 1", "deafness, autosomal recessive 44" ], "secondaryIds": [ "RGD:1319601" ], "genomeLocations": [ { "strand": "+", "endPosition": 45723116, "chromosome": "7", "assembly": "GRCh38", "startPosition": 45574140 } ], "primaryId": "HGNC:232", "crossReferences": [ { "id": "ENSEMBL:ENSG00000164742" }, { "id": "NCBI_Gene:107" }, { "id": "PANTHER:PTHR45627" }, { "id": "UniProtKB:Q08828" }, { "pages": [ "gene/references" ], "id": "RGD:1319601" }, { "pages": [ "gene" ], "id": "HGNC:232" }, { "id": "RGD:1319601" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADCY10", "geneSynopsis": "The protein encoded by this gene belongs to a distinct class of adenylyl cyclases that is soluble and insensitive to G protein or forskolin regulation. Activity of this protein is regulated by bicarbonate. Variation at this gene has been observed in patients with absorptive hypercalciuria. Alternatively spliced transcript variants encoding different isoforms have been observed. There is a pseudogene of this gene on chromosome 6. [provided by RefSeq, Jul 2014]", "soTermId": "SO:0001217", "name": "adenylate cyclase 10", "basicGeneticEntity": { "synonyms": [ "3',5'-cyclic AMP synthetase", "AH-related protein", "ATP pyrophosphate-lyase", "HCA2", "HEL-S-7a", "RP1-313L4.2", "SAC", "SACI", "Sacy", "adenylate cyclase 10 (soluble)", "adenylate cyclase 10, soluble", "adenylate cyclase type 10", "epididymis secretory sperm binding protein Li 7a", "germ cell soluble adenylyl cyclase", "hsAC", "testicular soluble adenylyl cyclase", "testicular soluble adenylyl cyclase (SAC)" ], "secondaryIds": [ "RGD:737484" ], "genomeLocations": [ { "strand": "-", "endPosition": 167914215, "chromosome": "1", "assembly": "GRCh38", "startPosition": 167809386 } ], "primaryId": "HGNC:21285", "crossReferences": [ { "id": "ENSEMBL:ENSG00000143199" }, { "id": "NCBI_Gene:55811" }, { "id": "PANTHER:PTHR16305" }, { "id": "UniProtKB:Q96PN6" }, { "pages": [ "gene/references" ], "id": "RGD:737484" }, { "pages": [ "gene" ], "id": "HGNC:21285" }, { "id": "RGD:737484" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADCY10P1", "geneSynopsis": "INTERACTS WITH 4,4'-sulfonyldiphenol; aristolochic acid A; carbon nanotube", "soTermId": "SO:0000336", "name": "ADCY10 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "FLJ46432", "adenylate cyclase 10 (soluble) pseudogene 1", "adenylate cyclase 10, soluble pseudogene 1" ], "secondaryIds": [ "RGD:2303886" ], "genomeLocations": [ { "strand": "+", "endPosition": 41140835, "chromosome": "6", "assembly": "GRCh38", "startPosition": 41101022 } ], "primaryId": "HGNC:44143", "crossReferences": [ { "id": "ENSEMBL:ENSG00000290554" }, { "id": "ENSEMBL:ENSG00000161912" }, { "id": "NCBI_Gene:221442" }, { "pages": [ "gene/references" ], "id": "RGD:2303886" }, { "pages": [ "gene" ], "id": "HGNC:44143" }, { "id": "RGD:2303886" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADCY2", "geneSynopsis": "This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is stimulated by the G protein beta and gamma subunit complex. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adenylate cyclase 2", "basicGeneticEntity": { "synonyms": [ "3',5'-cyclic AMP synthetase", "AC2", "ATP pyrophosphate-lyase 2", "FLJ16822", "FLJ45092", "HBAC2", "KIAA1060", "MGC133314", "adenylate cyclase 2 (brain)", "adenylate cyclase II", "adenylate cyclase type 2", "adenylate cyclase type II", "adenylyl cyclase 2", "type II adenylate cyclase" ], "secondaryIds": [ "RGD:734219" ], "genomeLocations": [ { "strand": "+", "endPosition": 7830081, "chromosome": "5", "assembly": "GRCh38", "startPosition": 7395681 } ], "primaryId": "HGNC:233", "crossReferences": [ { "id": "ENSEMBL:ENSG00000078295" }, { "id": "NCBI_Gene:108" }, { "id": "PANTHER:PTHR45627" }, { "id": "UniProtKB:Q08462" }, { "pages": [ "gene/references" ], "id": "RGD:734219" }, { "pages": [ "gene" ], "id": "HGNC:233" }, { "id": "RGD:734219" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADCY2-AS1", "soTermId": "SO:0001263", "name": "ADCY2 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:616940320" ], "primaryId": "HGNC:40064", "crossReferences": [ { "id": "NCBI_Gene:141732005" }, { "pages": [ "gene/references" ], "id": "RGD:616940320" }, { "pages": [ "gene" ], "id": "HGNC:40064" }, { "id": "RGD:616940320" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADCY2-AS2", "soTermId": "SO:0001263", "name": "ADCY2 antisense RNA 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:630350460" ], "primaryId": "HGNC:58999", "crossReferences": [ { "id": "NCBI_Gene:144667549" }, { "pages": [ "gene/references" ], "id": "RGD:630350460" }, { "pages": [ "gene" ], "id": "HGNC:58999" }, { "id": "RGD:630350460" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADCY3", "geneSynopsis": "This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This protein appears to be widely expressed in various human tissues and may be involved in a number of physiological and pathophysiological metabolic processes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]", "soTermId": "SO:0001217", "name": "adenylate cyclase 3", "basicGeneticEntity": { "synonyms": [ "AC-III", "AC3", "ATP pyrophosphate-lyase 3", "BMIQ19", "KIAA0511", "adenylate cyclase type 3", "adenylate cyclase type III", "adenylate cyclase, olfactive type", "adenylyl cyclase 3", "adenylyl cyclase, type III" ], "secondaryIds": [ "RGD:732499" ], "genomeLocations": [ { "strand": "-", "endPosition": 24920299, "chromosome": "2", "assembly": "GRCh38", "startPosition": 24819169 } ], "primaryId": "HGNC:234", "crossReferences": [ { "id": "ENSEMBL:ENSG00000138031" }, { "id": "NCBI_Gene:109" }, { "id": "PANTHER:PTHR45627" }, { "id": "UniProtKB:O60266" }, { "pages": [ "gene/references" ], "id": "RGD:732499" }, { "pages": [ "gene" ], "id": "HGNC:234" }, { "id": "RGD:732499" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADCY4", "geneSynopsis": "This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]", "soTermId": "SO:0001217", "name": "adenylate cyclase 4", "basicGeneticEntity": { "synonyms": [ "AC4", "ATP pyrophosphate-lyase 4", "adenylate cyclase type 4", "adenylate cyclase type IV", "adenylyl cyclase 4" ], "secondaryIds": [ "RGD:736108" ], "genomeLocations": [ { "strand": "-", "endPosition": 24335093, "chromosome": "14", "assembly": "GRCh38", "startPosition": 24318349 } ], "primaryId": "HGNC:235", "crossReferences": [ { "id": "ENSEMBL:ENSG00000129467" }, { "id": "ENSEMBL:ENSG00000284814" }, { "id": "NCBI_Gene:196883" }, { "id": "PANTHER:PTHR45627" }, { "id": "UniProtKB:Q8NFM4" }, { "pages": [ "gene/references" ], "id": "RGD:736108" }, { "pages": [ "gene" ], "id": "HGNC:235" }, { "id": "RGD:736108" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADCY5", "geneSynopsis": "This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]", "soTermId": "SO:0001217", "name": "adenylate cyclase 5", "basicGeneticEntity": { "synonyms": [ "AC5", "ATP pyrophosphate-lyase 5", "DSKOD", "FDFM", "adenylate cyclase type 5", "adenylate cyclase type V", "adenylate cyclase, type V", "adenylyl cyclase 5" ], "secondaryIds": [ "RGD:736882" ], "genomeLocations": [ { "strand": "-", "endPosition": 123449090, "chromosome": "3", "assembly": "GRCh38", "startPosition": 123282296 } ], "primaryId": "HGNC:236", "crossReferences": [ { "id": "ENSEMBL:ENSG00000173175" }, { "id": "NCBI_Gene:111" }, { "id": "PANTHER:PTHR45627" }, { "id": "UniProtKB:O95622" }, { "pages": [ "gene/references" ], "id": "RGD:736882" }, { "pages": [ "gene" ], "id": "HGNC:236" }, { "id": "RGD:736882" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADCY6", "geneSynopsis": "This gene encodes a member of the adenylyl cyclase family of proteins, which are required for the synthesis of cyclic AMP. All members of this family have an intracellular N-terminus, a tandem repeat of six transmembrane domains separated by a cytoplasmic loop, and a C-terminal cytoplasmic domain. The two cytoplasmic regions bind ATP and form the catalytic core of the protein. Adenylyl cyclases are important effectors of transmembrane signaling pathways and are regulated by the activity of G protein coupled receptor signaling. This protein belongs to a small subclass of adenylyl cyclase proteins that are functionally related and are inhibited by protein kinase A, calcium ions and nitric oxide. A mutation in this gene is associated with arthrogryposis multiplex congenita. [provided by RefSeq, May 2015]", "soTermId": "SO:0001217", "name": "adenylate cyclase 6", "basicGeneticEntity": { "synonyms": [ "AC6", "ATP pyrophosphate-lyase 6", "DKFZp779F075", "KIAA0422", "LCCS8", "adenylate cyclase type 6", "adenylate cyclase type VI", "adenylyl cyclase 6", "ca(2+)-inhibitable adenylyl cyclase" ], "secondaryIds": [ "RGD:735837" ], "genomeLocations": [ { "strand": "-", "endPosition": 48789974, "chromosome": "12", "assembly": "GRCh38", "startPosition": 48766191 } ], "primaryId": "HGNC:237", "crossReferences": [ { "id": "ENSEMBL:ENSG00000174233" }, { "id": "NCBI_Gene:112" }, { "id": "PANTHER:PTHR45627" }, { "id": "UniProtKB:O43306" }, { "pages": [ "gene/references" ], "id": "RGD:735837" }, { "pages": [ "gene" ], "id": "HGNC:237" }, { "id": "RGD:735837" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADCY6-DT", "soTermId": "SO:0001263", "name": "ADCY6 divergent transcript", "basicGeneticEntity": { "secondaryIds": [ "RGD:14694910" ], "genomeLocations": [ { "strand": "+", "endPosition": 48801483, "chromosome": "12", "assembly": "GRCh38", "startPosition": 48787978 } ], "primaryId": "HGNC:53332", "crossReferences": [ { "id": "ENSEMBL:ENSG00000257660" }, { "id": "NCBI_Gene:100506125" }, { "pages": [ "gene/references" ], "id": "RGD:14694910" }, { "pages": [ "gene" ], "id": "HGNC:53332" }, { "id": "RGD:14694910" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADCY7", "geneSynopsis": "This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characterized by the presence of twelve membrane-spanning domains in its sequences. Several transcript variants have been observed for this gene, but the full-length natures of only two have been determined so far. [provided by RefSeq, Oct 2013]", "soTermId": "SO:0001217", "name": "adenylate cyclase 7", "basicGeneticEntity": { "synonyms": [ "AC7", "ATP pyrophosphate-lyase 7", "FLJ36387", "KIAA0037", "adenylate cyclase type 7", "adenylate cyclase type VII", "adenylyl cyclase 7", "cyclic di-AMP synthase ADCY7" ], "secondaryIds": [ "RGD:735780" ], "genomeLocations": [ { "strand": "+", "endPosition": 50318135, "chromosome": "16", "assembly": "GRCh38", "startPosition": 50244699 } ], "primaryId": "HGNC:238", "crossReferences": [ { "id": "ENSEMBL:ENSG00000121281" }, { "id": "NCBI_Gene:113" }, { "id": "PANTHER:PTHR45627" }, { "id": "UniProtKB:P51828" }, { "pages": [ "gene/references" ], "id": "RGD:735780" }, { "pages": [ "gene" ], "id": "HGNC:238" }, { "id": "RGD:735780" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADCY8", "geneSynopsis": "Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adenylate cyclase 8", "basicGeneticEntity": { "synonyms": [ "AC8", "ADCY3", "ATP pyrophosphate-lyase 8", "HBAC1", "HEL-S-172mP", "adenylate cyclase 8 (brain)", "adenylate cyclase type 8", "adenylate cyclase type VIII", "adenylyl cyclase 8", "adenylyl cyclase-8, brain", "ca(2+)/calmodulin-activated adenylyl cyclase", "epididymis secretory sperm binding protein Li 172mP" ], "secondaryIds": [ "RGD:733733" ], "genomeLocations": [ { "strand": "-", "endPosition": 131041587, "chromosome": "8", "assembly": "GRCh38", "startPosition": 130780300 } ], "primaryId": "HGNC:239", "crossReferences": [ { "id": "ENSEMBL:ENSG00000155897" }, { "id": "NCBI_Gene:114" }, { "id": "PANTHER:PTHR45627" }, { "id": "UniProtKB:P40145" }, { "pages": [ "gene/references" ], "id": "RGD:733733" }, { "pages": [ "gene" ], "id": "HGNC:239" }, { "id": "RGD:733733" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADCY9", "geneSynopsis": "Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adenylate cyclase 9", "basicGeneticEntity": { "synonyms": [ "AC9", "ACIX", "ATP pyrophosphate-lyase 9", "FLJ12046", "adenylate cyclase type 9", "adenylate cyclase type IX", "adenylyl cyclase 9", "type IX ATP pyrophosphate-lyase" ], "secondaryIds": [ "RGD:1312370" ], "genomeLocations": [ { "strand": "-", "endPosition": 4116442, "chromosome": "16", "assembly": "GRCh38", "startPosition": 3953387 } ], "primaryId": "HGNC:240", "crossReferences": [ { "id": "ENSEMBL:ENSG00000162104" }, { "id": "NCBI_Gene:115" }, { "id": "PANTHER:PTHR45627" }, { "id": "UniProtKB:O60503" }, { "pages": [ "gene/references" ], "id": "RGD:1312370" }, { "pages": [ "gene" ], "id": "HGNC:240" }, { "id": "RGD:1312370" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADCYAP1", "geneSynopsis": "This gene encodes a secreted proprotein that is further processed into multiple mature peptides. These peptides stimulate adenylate cyclase and increase cyclic adenosine monophosphate (cAMP) levels, resulting in the transcriptional activation of target genes. The products of this gene are key mediators of neuroendocrine stress responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]", "soTermId": "SO:0001217", "name": "adenylate cyclase activating polypeptide 1", "basicGeneticEntity": { "synonyms": [ "MGC126852", "PACAP", "adenylate cyclase activating polypeptide 1 (pituitary)", "pituitary adenylate cyclase activating polypeptide", "pituitary adenylate cyclase-activating polypeptide", "prepro-PACAP" ], "secondaryIds": [ "RGD:732730" ], "genomeLocations": [ { "strand": "+", "endPosition": 912172, "chromosome": "18", "assembly": "GRCh38", "startPosition": 904411 } ], "primaryId": "HGNC:241", "crossReferences": [ { "id": "ENSEMBL:ENSG00000141433" }, { "id": "NCBI_Gene:116" }, { "id": "PANTHER:PTHR11213" }, { "id": "UniProtKB:P18509" }, { "pages": [ "gene/references" ], "id": "RGD:732730" }, { "pages": [ "gene" ], "id": "HGNC:241" }, { "id": "RGD:732730" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADCYAP1R1", "geneSynopsis": "This gene encodes type I adenylate cyclase activating polypeptide receptor, which is a membrane-associated protein and shares significant homology with members of the glucagon/secretin receptor family. This receptor mediates diverse biological actions of adenylate cyclase activating polypeptide 1 and is positively coupled to adenylate cyclase. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2010]", "soTermId": "SO:0001217", "name": "ADCYAP receptor type I", "basicGeneticEntity": { "synonyms": [ "PAC1", "PAC1 receptor", "PAC1R", "PACAP receptor 1", "PACAP type I receptor", "PACAP-R-1", "PACAP-R1", "PACAPR", "PACAPRI", "adenylate cyclase activating polypeptide 1 (pituitary) receptor type 1", "adenylate cyclase activating polypeptide 1 (pituitary) receptor type I", "adenylate cyclase activating polypeptide 1 receptor 1", "pituitary adenylate cyclase activating polypeptide 1 receptor type I Hiphop", "pituitary adenylate cyclase-activating polypeptide type 1 receptor", "pituitary adenylate cyclase-activating polypeptide type I receptor" ], "secondaryIds": [ "RGD:736792" ], "genomeLocations": [ { "strand": "+", "endPosition": 31111475, "chromosome": "7", "assembly": "GRCh38", "startPosition": 31052308 } ], "primaryId": "HGNC:242", "crossReferences": [ { "id": "ENSEMBL:ENSG00000078549" }, { "id": "NCBI_Gene:117" }, { "id": "PANTHER:PTHR45620" }, { "id": "UniProtKB:P41586" }, { "pages": [ "gene/references" ], "id": "RGD:736792" }, { "pages": [ "gene" ], "id": "HGNC:242" }, { "id": "RGD:736792" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADD1", "geneSynopsis": "Adducins are a family of cytoskeletal proteins encoded by three genes (alpha, beta, and gamma). Adducin acts as a heterodimer of the related alpha, beta, or gamma subunits. The protein encoded by this gene represents the alpha subunit. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. [provided by RefSeq, Aug 2017]", "soTermId": "SO:0001217", "name": "adducin 1", "basicGeneticEntity": { "synonyms": [ "ADDA", "MGC3339", "MGC44427", "adducin 1 (alpha)", "adducin 1, alpha", "alpha-adducin", "alpha-adducin 1", "erythrocyte adducin alpha subunit", "erythrocyte adducin subunit alpha" ], "secondaryIds": [ "RGD:733925" ], "genomeLocations": [ { "strand": "+", "endPosition": 2930082, "chromosome": "4", "assembly": "GRCh38", "startPosition": 2843576 } ], "primaryId": "HGNC:243", "crossReferences": [ { "id": "ENSEMBL:ENSG00000087274" }, { "id": "NCBI_Gene:118" }, { "id": "PANTHER:PTHR10672" }, { "id": "UniProtKB:P35611" }, { "pages": [ "gene/references" ], "id": "RGD:733925" }, { "pages": [ "gene" ], "id": "HGNC:243" }, { "id": "RGD:733925" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADD2", "geneSynopsis": "Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010]", "soTermId": "SO:0001217", "name": "adducin 2", "basicGeneticEntity": { "synonyms": [ "ADDB", "adducin 2 (beta)", "adducin 2, beta", "beta adducin", "beta-adducin", "erythrocyte adducin subunit beta" ], "secondaryIds": [ "RGD:736575" ], "genomeLocations": [ { "strand": "-", "endPosition": 70768499, "chromosome": "2", "assembly": "GRCh38", "startPosition": 70607618 } ], "primaryId": "HGNC:244", "crossReferences": [ { "id": "ENSEMBL:ENSG00000075340" }, { "id": "NCBI_Gene:119" }, { "id": "PANTHER:PTHR10672" }, { "id": "UniProtKB:P35612" }, { "pages": [ "gene/references" ], "id": "RGD:736575" }, { "pages": [ "gene" ], "id": "HGNC:244" }, { "id": "RGD:736575" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADD2-AS1", "soTermId": "SO:0001263", "name": "ADD2 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:616940560" ], "primaryId": "HGNC:40065", "crossReferences": [ { "id": "NCBI_Gene:141585756" }, { "pages": [ "gene/references" ], "id": "RGD:616940560" }, { "pages": [ "gene" ], "id": "HGNC:40065" }, { "id": "RGD:616940560" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADD3", "geneSynopsis": "Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adducin 3", "basicGeneticEntity": { "synonyms": [ "ADDL", "CPSQ3", "adducin 3 (gamma)", "adducin 3, gamma", "adducin-like protein 70", "gamma-adducin" ], "secondaryIds": [ "RGD:735411" ], "genomeLocations": [ { "strand": "+", "endPosition": 110135565, "chromosome": "10", "assembly": "GRCh38", "startPosition": 109996356 } ], "primaryId": "HGNC:245", "crossReferences": [ { "id": "ENSEMBL:ENSG00000148700" }, { "id": "NCBI_Gene:120" }, { "id": "PANTHER:PTHR10672" }, { "id": "UniProtKB:Q9UEY8" }, { "pages": [ "gene/references" ], "id": "RGD:735411" }, { "pages": [ "gene" ], "id": "HGNC:245" }, { "id": "RGD:735411" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADD3-AS1", "geneSynopsis": "INTERACTS WITH 4,4'-sulfonyldiphenol; okadaic acid; propofol", "soTermId": "SO:0001263", "name": "ADD3 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:7252953" ], "genomeLocations": [ { "strand": "-", "endPosition": 110008393, "chromosome": "10", "assembly": "GRCh38", "startPosition": 109929547 } ], "primaryId": "HGNC:48682", "crossReferences": [ { "id": "ENSEMBL:ENSG00000203876" }, { "id": "NCBI_Gene:100505933" }, { "pages": [ "gene/references" ], "id": "RGD:7252953" }, { "pages": [ "gene" ], "id": "HGNC:48682" }, { "id": "RGD:7252953" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGB", "geneSynopsis": "Predicted to enable several functions, including calcium-dependent cysteine-type endopeptidase activity; heme binding activity; and oxygen binding activity. Predicted to be involved in spermatid development. Predicted to be located in sperm flagellum. Predicted to be active in sperm annulus and sperm midpiece. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "androglobin", "basicGeneticEntity": { "synonyms": [ "C6orf103", "CAPN16", "calpain-7-like protein" ], "secondaryIds": [ "RGD:1343309" ], "genomeLocations": [ { "strand": "+", "endPosition": 146815462, "chromosome": "6", "assembly": "GRCh38", "startPosition": 146598967 } ], "primaryId": "HGNC:21212", "crossReferences": [ { "id": "ENSEMBL:ENSG00000118492" }, { "id": "NCBI_Gene:79747" }, { "id": "PANTHER:PTHR46298" }, { "id": "UniProtKB:Q8N7X0" }, { "pages": [ "gene/references" ], "id": "RGD:1343309" }, { "pages": [ "gene" ], "id": "HGNC:21212" }, { "id": "RGD:1343309" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGB-DT", "soTermId": "SO:0001263", "name": "ADGB divergent transcript", "basicGeneticEntity": { "synonyms": [ "AL359547.1", "LOC101928661", "uncharacterized LOC101928661" ], "secondaryIds": [ "RGD:16556857" ], "genomeLocations": [ { "strand": "-", "endPosition": 146598936, "chromosome": "6", "assembly": "GRCh38", "startPosition": 146582626 } ], "primaryId": "HGNC:55654", "crossReferences": [ { "id": "ENSEMBL:ENSG00000237468" }, { "id": "NCBI_Gene:101928661" }, { "pages": [ "gene/references" ], "id": "RGD:16556857" }, { "pages": [ "gene" ], "id": "HGNC:55654" }, { "id": "RGD:16556857" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRA1", "geneSynopsis": "This gene encodes a protein that belongs to the adhesion family of G-protein-coupled receptors. Members of this family function in several sensory systems and regulate blood pressure, immune responses, food intake and development. A similar protein in rodents is thought to play a role in in the regulation of neuronal signaling pathways. 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, Mar 2014]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor A1", "basicGeneticEntity": { "synonyms": [ "FLJ25875", "FLJ37356", "G protein-coupled receptor 123", "G-protein coupled receptor 123", "GPR123", "probable G-protein coupled receptor 123" ], "secondaryIds": [ "RGD:1317902" ], "genomeLocations": [ { "strand": "+", "endPosition": 133131675, "chromosome": "10", "assembly": "GRCh38", "startPosition": 133087924 } ], "primaryId": "HGNC:13838", "crossReferences": [ { "id": "ENSEMBL:ENSG00000197177" }, { "id": "NCBI_Gene:84435" }, { "id": "PANTHER:PTHR45930" }, { "id": "UniProtKB:Q86SQ6" }, { "pages": [ "gene/references" ], "id": "RGD:1317902" }, { "pages": [ "gene" ], "id": "HGNC:13838" }, { "id": "RGD:1317902" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRA1-AS1", "soTermId": "SO:0001263", "name": "ADGRA1 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "GPR123-AS1", "adhesion G protein-coupled receptor A1 antisense RNA 1" ], "secondaryIds": [ "RGD:9588856" ], "genomeLocations": [ { "strand": "-", "endPosition": 133088491, "chromosome": "10", "assembly": "GRCh38", "startPosition": 133083069 } ], "primaryId": "HGNC:49543", "crossReferences": [ { "id": "ENSEMBL:ENSG00000256925" }, { "id": "NCBI_Gene:100128127" }, { "pages": [ "gene/references" ], "id": "RGD:9588856" }, { "pages": [ "gene" ], "id": "HGNC:49543" }, { "id": "RGD:9588856" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRA2", "geneSynopsis": "Predicted to enable G protein-coupled receptor activity. Involved in canonical Wnt signaling pathway. Located in intracellular membrane-bounded organelle and plasma membrane. Part of Wnt signalosome. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor A2", "basicGeneticEntity": { "synonyms": [ "DKFZp434C211", "DKFZp434J0911", "FLJ14390", "G protein-coupled receptor 124", "G-protein coupled receptor 124", "GPR124", "KIAA1531", "TEM5", "probable G-protein coupled receptor 124", "tumor endothelial marker 5" ], "secondaryIds": [ "RGD:1312494" ], "genomeLocations": [ { "strand": "+", "endPosition": 37844896, "chromosome": "8", "assembly": "GRCh38", "startPosition": 37784191 } ], "primaryId": "HGNC:17849", "crossReferences": [ { "id": "ENSEMBL:ENSG00000020181" }, { "id": "NCBI_Gene:25960" }, { "id": "PANTHER:PTHR45930" }, { "id": "UniProtKB:Q96PE1" }, { "pages": [ "gene/references" ], "id": "RGD:1312494" }, { "pages": [ "gene" ], "id": "HGNC:17849" }, { "id": "RGD:1312494" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRA3", "geneSynopsis": "This gene encodes a member of the G protein-coupled receptor superfamily. This membrane protein may play a role in tumor angiogenesis through its interaction with the human homolog of the Drosophila disc large tumor suppressor gene. This gene is mapped to a candidate region of chromosome 4 which may be associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2012]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor A3", "basicGeneticEntity": { "synonyms": [ "G protein-coupled receptor 125", "G-protein coupled receptor 125", "GPR125", "PGR21", "TEM5-like", "TEM5L", "probable G-protein coupled receptor 125" ], "secondaryIds": [ "RGD:1312627" ], "genomeLocations": [ { "strand": "-", "endPosition": 22516089, "chromosome": "4", "assembly": "GRCh38", "startPosition": 22345071 } ], "primaryId": "HGNC:13839", "crossReferences": [ { "id": "ENSEMBL:ENSG00000152990" }, { "id": "NCBI_Gene:166647" }, { "id": "PANTHER:PTHR45930" }, { "id": "UniProtKB:Q8IWK6" }, { "pages": [ "gene/references" ], "id": "RGD:1312627" }, { "pages": [ "gene" ], "id": "HGNC:13839" }, { "id": "RGD:1312627" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRA3P1", "geneSynopsis": "INTERACTS WITH okadaic acid", "soTermId": "SO:0000336", "name": "ADGRA3 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AP002414.2", "G protein-coupled receptor 125 (GPR125) pseudogene", "G protein-coupled receptor 125 pseudogene", "LOC100996333" ], "secondaryIds": [ "RGD:16561084" ], "genomeLocations": [ { "strand": "-", "endPosition": 12076850, "chromosome": "18", "assembly": "GRCh38", "startPosition": 12075203 } ], "primaryId": "HGNC:55918", "crossReferences": [ { "id": "ENSEMBL:ENSG00000256616" }, { "id": "NCBI_Gene:100996333" }, { "pages": [ "gene/references" ], "id": "RGD:16561084" }, { "pages": [ "gene" ], "id": "HGNC:55918" }, { "id": "RGD:16561084" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRB1", "geneSynopsis": "Angiogenesis is controlled by a local balance between stimulators and inhibitors of new vessel growth and is suppressed under normal physiologic conditions. Angiogenesis has been shown to be essential for growth and metastasis of solid tumors. In order to obtain blood supply for their growth, tumor cells are potently angiogenic and attract new vessels as results of increased secretion of inducers and decreased production of endogenous negative regulators. BAI1 contains at least one 'functional' p53-binding site within an intron, and its expression has been shown to be induced by wildtype p53. There are two other brain-specific angiogenesis inhibitor genes, designated BAI2 and BAI3 which along with BAI1 have similar tissue specificities and structures, however only BAI1 is transcriptionally regulated by p53. BAI1 is postulated to be a member of the secretin receptor family, an inhibitor of angiogenesis and a growth suppressor of glioblastomas [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor B1", "basicGeneticEntity": { "synonyms": [ "BAI1", "FLJ41988", "GDAIF", "brain-specific angiogenesis inhibitor 1" ], "secondaryIds": [ "RGD:1313737" ], "genomeLocations": [ { "strand": "+", "endPosition": 142545009, "chromosome": "8", "assembly": "GRCh38", "startPosition": 142449430 } ], "primaryId": "HGNC:943", "crossReferences": [ { "id": "ENSEMBL:ENSG00000181790" }, { "id": "NCBI_Gene:575" }, { "id": "PANTHER:PTHR12011" }, { "id": "UniProtKB:O14514" }, { "pages": [ "gene/references" ], "id": "RGD:1313737" }, { "pages": [ "gene" ], "id": "HGNC:943" }, { "id": "RGD:1313737" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRB2", "geneSynopsis": "This gene encodes a a seven-span transmembrane protein that is thought to be a member of the secretin receptor family. The encoded protein is a brain-specific inhibitor of angiogenesis. The mature peptide may be further cleaved into additional products (PMID:20367554). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor B2", "basicGeneticEntity": { "synonyms": [ "BAI2", "Brain-specific angiongenesis inhibitor-2", "brain-specific angiogenesis inhibitor 2" ], "secondaryIds": [ "RGD:1319770" ], "genomeLocations": [ { "strand": "-", "endPosition": 31764893, "chromosome": "1", "assembly": "GRCh38", "startPosition": 31727117 } ], "primaryId": "HGNC:944", "crossReferences": [ { "id": "ENSEMBL:ENSG00000121753" }, { "id": "NCBI_Gene:576" }, { "id": "PANTHER:PTHR10239" }, { "id": "UniProtKB:O60241" }, { "pages": [ "gene/references" ], "id": "RGD:1319770" }, { "pages": [ "gene" ], "id": "HGNC:944" }, { "id": "RGD:1319770" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRB3", "geneSynopsis": "This p53-target gene encodes a brain-specific angiogenesis inhibitor, a seven-span transmembrane protein, and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, have similar tissue specificities, and may also play a role in angiogenesis. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor B3", "basicGeneticEntity": { "synonyms": [ "BAI3", "KIAA0550", "MGC133100", "brain-specific angiogenesis inhibitor 3", "dJ91B17.1 (brain-specific angiogenesis inhibitor 3)" ], "secondaryIds": [ "RGD:1320187" ], "genomeLocations": [ { "strand": "+", "endPosition": 69390571, "chromosome": "6", "assembly": "GRCh38", "startPosition": 68635282 } ], "primaryId": "HGNC:945", "crossReferences": [ { "id": "ENSEMBL:ENSG00000135298" }, { "id": "NCBI_Gene:577" }, { "id": "PANTHER:PTHR12011" }, { "id": "UniProtKB:O60242" }, { "pages": [ "gene/references" ], "id": "RGD:1320187" }, { "pages": [ "gene" ], "id": "HGNC:945" }, { "id": "RGD:1320187" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRB3-DT", "soTermId": "SO:0001263", "name": "ADGRB3 divergent transcript", "basicGeneticEntity": { "synonyms": [ "AL391807.1", "LOC101928307", "uncharacterized LOC101928307" ], "secondaryIds": [ "RGD:38654370" ], "genomeLocations": [ { "strand": "-", "endPosition": 68635898, "chromosome": "6", "assembly": "GRCh38", "startPosition": 68627865 } ], "primaryId": "HGNC:55774", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230910" }, { "id": "NCBI_Gene:101928307" }, { "pages": [ "gene/references" ], "id": "RGD:38654370" }, { "pages": [ "gene" ], "id": "HGNC:55774" }, { "id": "RGD:38654370" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRD1", "geneSynopsis": "The adhesion G-protein-coupled receptors (GPCRs), including GPR133, are membrane-bound proteins with long N termini containing multiple domains. GPCRs, or GPRs, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins (summary by Bjarnadottir et al., 2004 [PubMed 15203201]).[supplied by OMIM, Nov 2010]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor D1", "basicGeneticEntity": { "synonyms": [ "DKFZp434B1272", "FLJ16770", "G protein-coupled receptor 133", "G-protein coupled receptor 133", "G-protein coupled receptor PGR25", "GPR133", "MGC138512", "MGC138514", "PGR25", "adhesion G-protein coupled receptor D1", "probable G-protein coupled receptor 133" ], "secondaryIds": [ "RGD:1344919" ], "genomeLocations": [ { "strand": "+", "endPosition": 131142466, "chromosome": "12", "assembly": "GRCh38", "startPosition": 130953055 } ], "primaryId": "HGNC:19893", "crossReferences": [ { "id": "ENSEMBL:ENSG00000111452" }, { "id": "NCBI_Gene:283383" }, { "id": "PANTHER:PTHR12011" }, { "id": "UniProtKB:Q6QNK2" }, { "pages": [ "gene/references" ], "id": "RGD:1344919" }, { "pages": [ "gene" ], "id": "HGNC:19893" }, { "id": "RGD:1344919" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRD1-AS1", "geneSynopsis": "INTERACTS WITH triclosan", "soTermId": "SO:0001263", "name": "ADGRD1 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LACAT8" ], "secondaryIds": [ "RGD:12799439" ], "genomeLocations": [ { "strand": "-", "endPosition": 130993976, "chromosome": "12", "assembly": "GRCh38", "startPosition": 130990138 } ], "primaryId": "HGNC:53314", "crossReferences": [ { "id": "ENSEMBL:ENSG00000256151" }, { "id": "NCBI_Gene:105755954" }, { "pages": [ "gene/references" ], "id": "RGD:12799439" }, { "pages": [ "gene" ], "id": "HGNC:53314" }, { "id": "RGD:12799439" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRD1-AS2", "soTermId": "SO:0001263", "name": "ADGRD1 antisense RNA 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:597805829" ], "primaryId": "HGNC:58275", "crossReferences": [ { "id": "NCBI_Gene:139432803" }, { "pages": [ "gene/references" ], "id": "RGD:597805829" }, { "pages": [ "gene" ], "id": "HGNC:58275" }, { "id": "RGD:597805829" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRD2", "geneSynopsis": "Predicted to enable G protein-coupled receptor activity. Predicted to be involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor D2", "basicGeneticEntity": { "synonyms": [ "G protein-coupled receptor 144", "G protein-coupled receptor PGR24", "G-protein coupled receptor 144", "G-protein coupled receptor GPR144", "G-protein coupled receptor PGR24", "GPR144", "PGR24", "adhesion G-protein coupled receptor D2", "probable G-protein coupled receptor 144" ], "secondaryIds": [ "RGD:1350453" ], "genomeLocations": [ { "strand": "+", "endPosition": 124478589, "chromosome": "9", "assembly": "GRCh38", "startPosition": 124450451 } ], "primaryId": "HGNC:18651", "crossReferences": [ { "id": "ENSEMBL:ENSG00000180264" }, { "id": "NCBI_Gene:347088" }, { "id": "PANTHER:PTHR12011" }, { "id": "UniProtKB:Q7Z7M1" }, { "pages": [ "gene/references" ], "id": "RGD:1350453" }, { "pages": [ "gene" ], "id": "HGNC:18651" }, { "id": "RGD:1350453" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRE1", "geneSynopsis": "This gene encodes a protein that has a domain resembling seven transmembrane G protein-coupled hormone receptors (7TM receptors) at its C-terminus. The N-terminus of the encoded protein has six EGF-like modules, separated from the transmembrane segments by a serine/threonine-rich domain, a feature reminiscent of mucin-like, single-span, integral membrane glycoproteins with adhesive properties. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor E1", "basicGeneticEntity": { "synonyms": [ "EGF-like module receptor 1", "EGF-like module-containing mucin-like hormone receptor-like 1", "EMR1", "EMR1 hormone receptor", "TM7LN3", "egf-like module containing, mucin-like, hormone receptor-like 1", "egf-like module containing, mucin-like, hormone receptor-like sequence 1" ], "secondaryIds": [ "RGD:1342649" ], "genomeLocations": [ { "strand": "+", "endPosition": 6940459, "chromosome": "19", "assembly": "GRCh38", "startPosition": 6887566 } ], "primaryId": "HGNC:3336", "crossReferences": [ { "id": "ENSEMBL:ENSG00000174837" }, { "id": "NCBI_Gene:2015" }, { "id": "PANTHER:PTHR12011" }, { "id": "UniProtKB:Q14246" }, { "pages": [ "gene/references" ], "id": "RGD:1342649" }, { "pages": [ "gene" ], "id": "HGNC:3336" }, { "id": "RGD:1342649" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRE2", "geneSynopsis": "This gene encodes a member of the class B seven-span transmembrane (TM7) subfamily of G-protein coupled receptors. These proteins are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor-like domains coupled to a TM7 domain via a mucin-like spacer domain. The encoded protein is expressed mainly in myeloid cells where it promotes cell-cell adhesion through interaction with chondroitin sulfate chains. This gene is situated in a cluster of related genes on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor E2", "basicGeneticEntity": { "synonyms": [ "CD312", "CD97", "CD97 antigen", "DDU", "DKFZp781B135", "EGF-like module receptor 2", "EGF-like module-containing mucin-like hormone receptor-like 2", "EMR2", "Leukocyte antigen CD97", "VBU", "dermo-distortive urticaria", "egf-like module containing, mucin-like, hormone receptor-like 2", "egf-like module containing, mucin-like, hormone receptor-like sequence 2" ], "secondaryIds": [ "RGD:1345702" ], "genomeLocations": [ { "strand": "-", "endPosition": 14778560, "chromosome": "19", "assembly": "GRCh38", "startPosition": 14724171 } ], "primaryId": "HGNC:3337", "crossReferences": [ { "id": "ENSEMBL:ENSG00000127507" }, { "id": "NCBI_Gene:30817" }, { "id": "PANTHER:PTHR12011" }, { "id": "UniProtKB:Q9UHX3" }, { "pages": [ "gene/references" ], "id": "RGD:1345702" }, { "pages": [ "gene" ], "id": "HGNC:3337" }, { "id": "RGD:1345702" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRE3", "geneSynopsis": "This gene encodes a member of the class B seven-span transmembrane (TM7) receptor family expressed predominantly by cells of the immune system. Family members are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor (EGF)-like domains coupled to a TM7 domain via a mucin-like spacer domain. This gene is closely linked to the gene encoding egf-like molecule containing mucin-like hormone receptor 2 on chromosome 19. This protein may play a role in myeloid-myeloid interactions during immune and inflammatory responses. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor E3", "basicGeneticEntity": { "synonyms": [ "EGF-like module receptor 3", "EGF-like module-containing mucin-like hormone receptor-like 3", "EMR3", "egf-like module containing, mucin-like, hormone receptor-like 3", "egf-like module-containing mucin-like receptor 3" ], "secondaryIds": [ "RGD:1606765" ], "genomeLocations": [ { "strand": "-", "endPosition": 14690027, "chromosome": "19", "assembly": "GRCh38", "startPosition": 14599080 } ], "primaryId": "HGNC:23647", "crossReferences": [ { "id": "ENSEMBL:ENSG00000131355" }, { "id": "NCBI_Gene:84658" }, { "id": "PANTHER:PTHR12011" }, { "id": "UniProtKB:Q9BY15" }, { "pages": [ "gene/references" ], "id": "RGD:1606765" }, { "pages": [ "gene" ], "id": "HGNC:23647" }, { "id": "RGD:1606765" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRE4P", "geneSynopsis": "This gene is a member of the EGF-TM7 receptor gene family which is thought to play a role in leukocyte adhesion and migration. In other vertebrates, including nonhuman primates, this gene encodes a protein containing N-terminal EGF domains and a C-terminal transmembrane domain. Sequence evidence for the human gene, however, indicates nucleotide deletion in the genomic sequence would result in frameshift and early termination of translation. A protein expressed by this gene would be soluble rather than expressed on the cell surface. As the encoded protein has not been detected, this gene may represent a transcribed pseudogene. [provided by RefSeq, Aug 2008]", "soTermId": "SO:0000336", "name": "adhesion G protein-coupled receptor E4, pseudogene", "basicGeneticEntity": { "synonyms": [ "EMR4", "EMR4P", "FIRE", "GPR127", "PGR16" ], "secondaryIds": [ "RGD:1606914" ], "genomeLocations": [ { "strand": "-", "endPosition": 6997851, "chromosome": "19", "assembly": "GRCh38", "startPosition": 6950758 } ], "primaryId": "HGNC:19240", "crossReferences": [ { "id": "ENSEMBL:ENSG00000268758" }, { "id": "NCBI_Gene:326342" }, { "id": "PANTHER:PTHR12011" }, { "id": "UniProtKB:Q86SQ3" }, { "pages": [ "gene/references" ], "id": "RGD:1606914" }, { "pages": [ "gene" ], "id": "HGNC:19240" }, { "id": "RGD:1606914" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRE5", "geneSynopsis": "This gene encodes a member of the EGF-TM7 subfamily of adhesion G protein-coupled receptors, which mediate cell-cell interactions. These proteins are cleaved by self-catalytic proteolysis into a large extracellular subunit and seven-span transmembrane subunit, which associate at the cell surface as a receptor complex. The encoded protein may play a role in cell adhesion as well as leukocyte recruitment, activation and migration, and contains multiple extracellular EGF-like repeats which mediate binding to chondroitin sulfate and the cell surface complement regulatory protein CD55. Expression of this gene may play a role in the progression of several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms with 3 to 5 EGF-like repeats have been observed for this gene. This gene is found in a cluster with other EGF-TM7 genes on the short arm of chromosome 19. [provided by RefSeq, Jun 2011]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor E5", "basicGeneticEntity": { "synonyms": [ "CD97", "CD97 antigen", "CD97 molecule", "TM7LN1", "leukocyte antigen CD97", "seven transmembrane helix receptor", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation" ], "secondaryIds": [ "RGD:1313717" ], "genomeLocations": [ { "strand": "+", "endPosition": 14408729, "chromosome": "19", "assembly": "GRCh38", "startPosition": 14380501 } ], "primaryId": "HGNC:1711", "crossReferences": [ { "id": "ENSEMBL:ENSG00000123146" }, { "id": "NCBI_Gene:976" }, { "id": "PANTHER:PTHR12011" }, { "id": "UniProtKB:P48960" }, { "pages": [ "gene/references" ], "id": "RGD:1313717" }, { "pages": [ "gene" ], "id": "HGNC:1711" }, { "id": "RGD:1313717" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRF1", "geneSynopsis": "Predicted to enable G protein-coupled receptor activity. Predicted to be involved in several processes, including adenylate cyclase-activating G protein-coupled receptor signaling pathway; fat cell differentiation; and nervous system development. Predicted to act upstream of or within memory and positive regulation of CREB transcription factor activity. Predicted to be located in membrane. Predicted to be active in cytoplasmic vesicle and plasma membrane. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor F1", "basicGeneticEntity": { "synonyms": [ "FLJ22684", "FLJ30646", "G protein-coupled receptor 110", "G protein-coupled receptor PGR19", "G-protein coupled receptor 110", "G-protein coupled receptor KPG_012", "G-protein coupled receptor PGR19", "GPR110", "KPG_012", "MGC125952", "PGR19", "adhesion G-protein coupled receptor F1", "hGPCR36", "probable G-protein coupled receptor 110", "seven transmembrane helix receptor" ], "secondaryIds": [ "RGD:1321097" ], "genomeLocations": [ { "strand": "-", "endPosition": 47042350, "chromosome": "6", "assembly": "GRCh38", "startPosition": 46997708 } ], "primaryId": "HGNC:18990", "crossReferences": [ { "id": "ENSEMBL:ENSG00000153292" }, { "id": "NCBI_Gene:266977" }, { "id": "PANTHER:PTHR45813" }, { "id": "UniProtKB:Q5T601" }, { "pages": [ "gene/references" ], "id": "RGD:1321097" }, { "pages": [ "gene" ], "id": "HGNC:18990" }, { "id": "RGD:1321097" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRF2P", "geneSynopsis": "Predicted to enable G protein-coupled receptor activity. Predicted to be involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0000336", "name": "adhesion G protein-coupled receptor F2, pseudogene", "basicGeneticEntity": { "synonyms": [ "ADGRF2", "G protein-coupled receptor 111", "G protein-coupled receptor PGR20", "GPR111", "PGR20", "adhesion G protein-coupled receptor F2", "adhesion G-protein coupled receptor F2", "hGPCR35", "probable G-protein coupled receptor 111" ], "secondaryIds": [ "RGD:1343922" ], "genomeLocations": [ { "strand": "+", "endPosition": 47697794, "chromosome": "6", "assembly": "GRCh38", "startPosition": 47656472 } ], "primaryId": "HGNC:18991", "crossReferences": [ { "id": "ENSEMBL:ENSG00000164393" }, { "id": "NCBI_Gene:222611" }, { "id": "PANTHER:PTHR45813" }, { "id": "UniProtKB:Q8IZF7" }, { "pages": [ "gene/references" ], "id": "RGD:1343922" }, { "pages": [ "gene" ], "id": "HGNC:18991" }, { "id": "RGD:1343922" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRF3", "geneSynopsis": "Predicted to enable G protein-coupled receptor activity. Predicted to be involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor F3", "basicGeneticEntity": { "synonyms": [ "FLJ16767", "G protein-coupled receptor 113", "G protein-coupled receptor PGR23", "G-protein coupled receptor 113", "G-protein coupled receptor PGR23", "GPR113", "PGR23", "adhesion G-protein coupled receptor F3", "hGPCR37", "probable G-protein coupled receptor 113", "seven transmembrane helix receptor" ], "secondaryIds": [ "RGD:1314157" ], "genomeLocations": [ { "strand": "-", "endPosition": 26346817, "chromosome": "2", "assembly": "GRCh38", "startPosition": 26308173 } ], "primaryId": "HGNC:18989", "crossReferences": [ { "id": "ENSEMBL:ENSG00000173567" }, { "id": "NCBI_Gene:165082" }, { "id": "PANTHER:PTHR45813" }, { "id": "UniProtKB:Q8IZF5" }, { "pages": [ "gene/references" ], "id": "RGD:1314157" }, { "pages": [ "gene" ], "id": "HGNC:18989" }, { "id": "RGD:1314157" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRF4", "geneSynopsis": "Sequence analysis of this gene suggests that it is encodes a member of the superfamily of G protein-couple receptors. G protein-coupled receptors typically contain seven hydrophobic transmembrane domains, interact with guanine nucleotide binding regulatory proteins, and detect molecules outside the cell and act to transduce these signals into intracellular responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor F4", "basicGeneticEntity": { "synonyms": [ "FLJ38076", "G protein-coupled receptor 115", "G-protein coupled receptor 115", "G-protein coupled receptor PGR18", "GPR115", "PGR18", "probable G-protein coupled receptor 115", "seven transmembrane helix receptor" ], "secondaryIds": [ "RGD:1315496" ], "genomeLocations": [ { "strand": "+", "endPosition": 47722021, "chromosome": "6", "assembly": "GRCh38", "startPosition": 47685864 } ], "primaryId": "HGNC:19011", "crossReferences": [ { "id": "ENSEMBL:ENSG00000153294" }, { "id": "NCBI_Gene:221393" }, { "id": "PANTHER:PTHR45813" }, { "id": "UniProtKB:Q8IZF3" }, { "pages": [ "gene/references" ], "id": "RGD:1315496" }, { "pages": [ "gene" ], "id": "HGNC:19011" }, { "id": "RGD:1315496" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRF5", "geneSynopsis": "Predicted to enable G protein-coupled receptor activity. Predicted to be involved in several processes, including adenylate cyclase-activating G protein-coupled receptor signaling pathway; energy reserve metabolic process; and fat cell differentiation. Predicted to act upstream of or within several processes, including glomerular filtration; negative regulation of macrophage activation; and pharyngeal arch artery morphogenesis. Located in cell surface and cytoplasmic vesicle. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor F5", "basicGeneticEntity": { "synonyms": [ "DKFZp564O1923", "FLJ90640", "G protein-coupled receptor 116", "G-protein coupled receptor 116", "GPR116", "Ig-Hepta homolog", "KIAA0758", "KPG_001", "probable G-protein coupled receptor 116" ], "secondaryIds": [ "RGD:1347693" ], "genomeLocations": [ { "strand": "-", "endPosition": 46956392, "chromosome": "6", "assembly": "GRCh38", "startPosition": 46852310 } ], "primaryId": "HGNC:19030", "crossReferences": [ { "id": "ENSEMBL:ENSG00000069122" }, { "id": "NCBI_Gene:221395" }, { "id": "PANTHER:PTHR45813" }, { "id": "UniProtKB:Q8IZF2" }, { "pages": [ "gene/references" ], "id": "RGD:1347693" }, { "pages": [ "gene" ], "id": "HGNC:19030" }, { "id": "RGD:1347693" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRF5-AS1", "soTermId": "SO:0001263", "name": "ADGRF5 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:14700630" ], "genomeLocations": [ { "strand": "+", "endPosition": 46910029, "chromosome": "6", "assembly": "GRCh38", "startPosition": 46903471 } ], "primaryId": "HGNC:40864", "crossReferences": [ { "id": "NCBI_Gene:101926962" }, { "pages": [ "gene/references" ], "id": "RGD:14700630" }, { "pages": [ "gene" ], "id": "HGNC:40864" }, { "id": "RGD:14700630" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRF5P1", "geneSynopsis": "INTERACTS WITH lipopolysaccharide; S-(1,2-dichlorovinyl)-L-cysteine", "soTermId": "SO:0000336", "name": "adhesion G protein-coupled receptor F5 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "GPR116P1", "LOC124906880", "adhesion G protein-coupled receptor F5-like" ], "secondaryIds": [ "RGD:6482620" ], "genomeLocations": [ { "strand": "-", "endPosition": 62862194, "chromosome": "9", "assembly": "GRCh38", "startPosition": 62860848 } ], "primaryId": "HGNC:32922", "crossReferences": [ { "id": "ENSEMBL:ENSG00000227582" }, { "id": "NCBI_Gene:389740" }, { "pages": [ "gene/references" ], "id": "RGD:6482620" }, { "pages": [ "gene" ], "id": "HGNC:32922" }, { "id": "RGD:6482620" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRF5P2", "soTermId": "SO:0000336", "name": "adhesion G protein-coupled receptor F5 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "GPR116P2" ], "secondaryIds": [ "RGD:6482616" ], "genomeLocations": [ { "strand": "+", "endPosition": 42800672, "chromosome": "9", "assembly": "GRCh38", "startPosition": 42795391 } ], "primaryId": "HGNC:32921", "crossReferences": [ { "id": "ENSEMBL:ENSG00000204818" }, { "id": "NCBI_Gene:441416" }, { "pages": [ "gene/references" ], "id": "RGD:6482616" }, { "pages": [ "gene" ], "id": "HGNC:32921" }, { "id": "RGD:6482616" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRG1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor G1", "basicGeneticEntity": { "synonyms": [ "7-transmembrane protein with no EGF-like N-terminal domains-1", "BFPP", "BPPR", "CDCBM14B", "CDCBM15A", "DKFZp781L1398", "EGF-TM7-like", "G protein-coupled receptor 56", "G-protein coupled receptor 56", "GPR56", "TM7LN4", "TM7XN1", "adhesion G-protein coupled receptor G1", "testicular tissue protein Li 77" ], "secondaryIds": [ "RGD:1352005" ], "genomeLocations": [ { "strand": "+", "endPosition": 57665580, "chromosome": "16", "assembly": "GRCh38", "startPosition": 57610652 } ], "primaryId": "HGNC:4512", "crossReferences": [ { "id": "ENSEMBL:ENSG00000205336" }, { "id": "NCBI_Gene:9289" }, { "id": "PANTHER:PTHR12011" }, { "id": "UniProtKB:Q9Y653" }, { "pages": [ "gene/references" ], "id": "RGD:1352005" }, { "pages": [ "gene" ], "id": "HGNC:4512" }, { "id": "RGD:1352005" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRG2", "geneSynopsis": "This gene encodes a member of the G protein-coupled receptor family described as an epididymis-specific transmembrane protein. The encoded protein may be proteolytically processed as it contains a motif shown to be a protein scission motif in some members of this family (PMID: 11973329). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor G2", "basicGeneticEntity": { "synonyms": [ "CBAVDX", "EDDM6", "FLJ00282", "G protein-coupled receptor 64", "G protein-coupled receptor, epididymis-specific (seven transmembrane family)", "G-protein coupled receptor 64", "GPR64", "HE6", "MGC104454", "MGC138738", "MGC138739", "TM7LN2", "adhesion G-protein coupled receptor G2", "epididymal protein 6", "human epididymis-specific protein 6" ], "secondaryIds": [ "RGD:735317" ], "genomeLocations": [ { "strand": "-", "endPosition": 19122956, "chromosome": "X", "assembly": "GRCh38", "startPosition": 18989307 } ], "primaryId": "HGNC:4516", "crossReferences": [ { "id": "ENSEMBL:ENSG00000173698" }, { "id": "NCBI_Gene:10149" }, { "id": "PANTHER:PTHR12011" }, { "id": "UniProtKB:Q8IZP9" }, { "pages": [ "gene/references" ], "id": "RGD:735317" }, { "pages": [ "gene" ], "id": "HGNC:4516" }, { "id": "RGD:735317" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRG3", "geneSynopsis": "Predicted to enable G protein-coupled receptor activity. Involved in G protein-coupled receptor signaling pathway and regulation of cell migration. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor G3", "basicGeneticEntity": { "synonyms": [ "EGF-TM7-like", "G protein-coupled receptor 97", "G-protein coupled receptor 97", "G-protein coupled receptor PGR26", "GPR97", "PB99", "PGR26", "probable G-protein coupled receptor 97" ], "secondaryIds": [ "RGD:1313843" ], "genomeLocations": [ { "strand": "+", "endPosition": 57689378, "chromosome": "16", "assembly": "GRCh38", "startPosition": 57665629 } ], "primaryId": "HGNC:13728", "crossReferences": [ { "id": "ENSEMBL:ENSG00000182885" }, { "id": "NCBI_Gene:222487" }, { "id": "PANTHER:PTHR12011" }, { "id": "UniProtKB:Q86Y34" }, { "pages": [ "gene/references" ], "id": "RGD:1313843" }, { "pages": [ "gene" ], "id": "HGNC:13728" }, { "id": "RGD:1313843" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRG4", "geneSynopsis": "This gene encodes a G-protein coupled receptor belonging to a large family of diverse integral membrane proteins that participate in various physiological functions. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The ligand for this family member is unknown, and it is therefore an orphan receptor. This receptor is known to be expressed in normal enterochromaffin cells and in gastrointestinal neuroendocrine carcinoma cells, and it is therefore considered to be a novel biomarker or target for immunotherapy. [provided by RefSeq, May 2010]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor G4", "basicGeneticEntity": { "synonyms": [ "DKFZp781E1948", "G protein-coupled receptor 112", "GPR112", "PGR17", "RP1-299I16", "adhesion G-protein coupled receptor G4", "probable G-protein coupled receptor 112" ], "secondaryIds": [ "RGD:1346347" ], "genomeLocations": [ { "strand": "+", "endPosition": 136416890, "chromosome": "X", "assembly": "GRCh38", "startPosition": 136300963 } ], "primaryId": "HGNC:18992", "crossReferences": [ { "id": "ENSEMBL:ENSG00000156920" }, { "id": "NCBI_Gene:139378" }, { "id": "PANTHER:PTHR12011" }, { "id": "UniProtKB:Q8IZF6" }, { "pages": [ "gene/references" ], "id": "RGD:1346347" }, { "pages": [ "gene" ], "id": "HGNC:18992" }, { "id": "RGD:1346347" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRG5", "geneSynopsis": "This gene encodes a member of the adhesion family of G-protein coupled receptors. Members of this family are characterized by long N-termini and multiple functional domains. They may play a role in the immune system as well as in the central nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor G5", "basicGeneticEntity": { "synonyms": [ "G protein-coupled receptor 114", "G protein-coupled receptor PGR27", "G-protein coupled receptor 114", "G-protein coupled receptor PGR27", "GPR114", "PGR27", "adhesion G-protein coupled receptor G5", "probable G-protein coupled receptor 114" ], "secondaryIds": [ "RGD:1313657" ], "genomeLocations": [ { "strand": "+", "endPosition": 57591681, "chromosome": "16", "assembly": "GRCh38", "startPosition": 57529073 } ], "primaryId": "HGNC:19010", "crossReferences": [ { "id": "ENSEMBL:ENSG00000159618" }, { "id": "NCBI_Gene:221188" }, { "id": "PANTHER:PTHR12011" }, { "id": "UniProtKB:Q8IZF4" }, { "pages": [ "gene/references" ], "id": "RGD:1313657" }, { "pages": [ "gene" ], "id": "HGNC:19010" }, { "id": "RGD:1313657" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRG6", "geneSynopsis": "This gene, which is upregulated in human umbilical vein endothelial cells, encodes a G protein-coupled receptor. Variations in this gene can affect a person's stature. Multiple transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Mar 2009]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor G6", "basicGeneticEntity": { "synonyms": [ "APG1", "DREG", "G protein-coupled receptor 126", "G-protein coupled receptor 126", "GPR126", "HBV PreS1-transactivated protein 2", "LCCS9", "PR126", "PS1TP2", "VIGR", "adhesion G-protein coupled receptor G6", "developmentally regulated G-protein-coupled receptor", "vascular inducible G protein-coupled receptor", "vascular-inducible G protein-coupled receptor" ], "secondaryIds": [ "RGD:1318390" ], "genomeLocations": [ { "strand": "+", "endPosition": 142446266, "chromosome": "6", "assembly": "GRCh38", "startPosition": 142301854 } ], "primaryId": "HGNC:13841", "crossReferences": [ { "id": "ENSEMBL:ENSG00000112414" }, { "id": "NCBI_Gene:57211" }, { "id": "PANTHER:PTHR12011" }, { "id": "UniProtKB:Q86SQ4" }, { "pages": [ "gene/references" ], "id": "RGD:1318390" }, { "pages": [ "gene" ], "id": "HGNC:13841" }, { "id": "RGD:1318390" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRG7", "geneSynopsis": "Predicted to enable G protein-coupled receptor activity. Predicted to be involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor G7", "basicGeneticEntity": { "synonyms": [ "FLJ14454", "FLJ16382", "FLJ29035", "G protein-coupled receptor 128", "G-protein coupled receptor 128", "GPR128", "MGC142011", "MGC163260", "adhesion G-protein coupled receptor G7", "probable G-protein coupled receptor 128" ], "secondaryIds": [ "RGD:1316279" ], "genomeLocations": [ { "strand": "+", "endPosition": 100695479, "chromosome": "3", "assembly": "GRCh38", "startPosition": 100609601 } ], "primaryId": "HGNC:19241", "crossReferences": [ { "id": "ENSEMBL:ENSG00000144820" }, { "id": "NCBI_Gene:84873" }, { "id": "PANTHER:PTHR47767" }, { "id": "UniProtKB:Q96K78" }, { "pages": [ "gene/references" ], "id": "RGD:1316279" }, { "pages": [ "gene" ], "id": "HGNC:19241" }, { "id": "RGD:1316279" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRL1", "geneSynopsis": "This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. Latrophilin-1 has been shown to recruit the neurotoxin from black widow spider venom, alpha-latrotoxin, to the synapse plasma membrane. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Oct 2008]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor L1", "basicGeneticEntity": { "synonyms": [ "CIRL-1", "CIRL1", "CL1", "DEDBANP", "LEC2", "LPHN1", "calcium-independent alpha-latrotoxin receptor 1", "cl1ba protein", "latrophilin 1", "latrophilin-1", "lectomedin-2" ], "secondaryIds": [ "RGD:733163" ], "genomeLocations": [ { "strand": "-", "endPosition": 14206204, "chromosome": "19", "assembly": "GRCh38", "startPosition": 14147743 } ], "primaryId": "HGNC:20973", "crossReferences": [ { "id": "ENSEMBL:ENSG00000072071" }, { "id": "ENSEMBL:ENSG00000288324" }, { "id": "NCBI_Gene:22859" }, { "id": "PANTHER:PTHR12011" }, { "id": "UniProtKB:O94910" }, { "pages": [ "gene/references" ], "id": "RGD:733163" }, { "pages": [ "gene" ], "id": "HGNC:20973" }, { "id": "RGD:733163" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRL1-AS1", "geneSynopsis": "INTERACTS WITH bisphenol A; okadaic acid", "soTermId": "SO:0001263", "name": "ADGRL1 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AC022098.1", "LOC100507373", "novel transcript, antisense to LPHN1", "uncharacterized LOC100507373" ], "secondaryIds": [ "RGD:16564486" ], "genomeLocations": [ { "strand": "+", "endPosition": 14171268, "chromosome": "19", "assembly": "GRCh38", "startPosition": 14137086 } ], "primaryId": "HGNC:55309", "crossReferences": [ { "id": "ENSEMBL:ENSG00000267169" }, { "id": "NCBI_Gene:100507373" }, { "pages": [ "gene/references" ], "id": "RGD:16564486" }, { "pages": [ "gene" ], "id": "HGNC:55309" }, { "id": "RGD:16564486" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRL2", "geneSynopsis": "This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors. The encoded protein participates in the regulation of exocytosis. The proprotein is thought to be further cleaved within a cysteine-rich G-protein-coupled receptor proteolysis site into two chains that are non-covalently bound at the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor L2", "basicGeneticEntity": { "synonyms": [ "CIRL-2", "CIRL2", "CL2", "LEC1", "LPHH1", "LPHN2", "calcium-independent alpha-latrotoxin receptor 2", "latrophilin 1", "latrophilin 2", "latrophilin homolog 1", "latrophilin homolog 2 (cow)", "latrophilin-2", "lectomedin-1" ], "secondaryIds": [ "RGD:732054" ], "genomeLocations": [ { "strand": "+", "endPosition": 81993940, "chromosome": "1", "assembly": "GRCh38", "startPosition": 81306112 } ], "primaryId": "HGNC:18582", "crossReferences": [ { "id": "ENSEMBL:ENSG00000117114" }, { "id": "NCBI_Gene:23266" }, { "id": "PANTHER:PTHR12011" }, { "id": "UniProtKB:O95490" }, { "pages": [ "gene/references" ], "id": "RGD:732054" }, { "pages": [ "gene" ], "id": "HGNC:18582" }, { "id": "RGD:732054" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRL3", "geneSynopsis": "This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor L3", "basicGeneticEntity": { "synonyms": [ "CIRL-3", "CIRL3", "CL3", "LEC3", "LPHN3", "calcium-independent alpha-latrotoxin receptor 3", "latrophilin 3", "latrophilin homolog 3 (cow)", "latrophilin-3", "lectomedin 3" ], "secondaryIds": [ "RGD:1353351" ], "genomeLocations": [ { "strand": "+", "endPosition": 62078335, "chromosome": "4", "assembly": "GRCh38", "startPosition": 61200326 } ], "primaryId": "HGNC:20974", "crossReferences": [ { "id": "ENSEMBL:ENSG00000150471" }, { "id": "NCBI_Gene:23284" }, { "id": "PANTHER:PTHR12011" }, { "id": "UniProtKB:Q9HAR2" }, { "pages": [ "gene/references" ], "id": "RGD:1353351" }, { "pages": [ "gene" ], "id": "HGNC:20974" }, { "id": "RGD:1353351" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRL3-AS1", "geneSynopsis": "INTERACTS WITH aflatoxin B1; tebuconazole", "soTermId": "SO:0001263", "name": "ADGRL3 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LPHN3-AS1", "adhesion G protein-coupled receptor L3 antisense RNA 1" ], "secondaryIds": [ "RGD:8656310" ], "genomeLocations": [ { "strand": "-", "endPosition": 62165554, "chromosome": "4", "assembly": "GRCh38", "startPosition": 62051272 } ], "primaryId": "HGNC:50604", "crossReferences": [ { "id": "ENSEMBL:ENSG00000248692" }, { "id": "NCBI_Gene:101927186" }, { "pages": [ "gene/references" ], "id": "RGD:8656310" }, { "pages": [ "gene" ], "id": "HGNC:50604" }, { "id": "RGD:8656310" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRL3-AS2", "soTermId": "SO:0001263", "name": "ADGRL3 antisense RNA 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:629021603" ], "primaryId": "HGNC:58798", "crossReferences": [ { "id": "NCBI_Gene:144093404" }, { "pages": [ "gene/references" ], "id": "RGD:629021603" }, { "pages": [ "gene" ], "id": "HGNC:58798" }, { "id": "RGD:629021603" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRL3-AS3", "soTermId": "SO:0001263", "name": "ADGRL3 antisense RNA 3", "basicGeneticEntity": { "secondaryIds": [ "RGD:629021562" ], "primaryId": "HGNC:58799", "crossReferences": [ { "id": "NCBI_Gene:144093381" }, { "pages": [ "gene/references" ], "id": "RGD:629021562" }, { "pages": [ "gene" ], "id": "HGNC:58799" }, { "id": "RGD:629021562" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRL4", "geneSynopsis": "Predicted to enable G protein-coupled receptor activity. Predicted to be involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway. Predicted to be located in cytoplasmic vesicle. Predicted to be active in plasma membrane. Biomarker of glioblastoma and hypertrophic cardiomyopathy. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor L4", "basicGeneticEntity": { "synonyms": [ "EGF, latrophilin and seven transmembrane domain containing 1", "EGF, latrophilin and seven transmembrane domain-containing protein 1", "EGF-TM7-latrophilin-related protein", "ELTD1", "ETL", "KPG_003" ], "secondaryIds": [ "RGD:1347532" ], "genomeLocations": [ { "strand": "-", "endPosition": 79282124, "chromosome": "1", "assembly": "GRCh38", "startPosition": 78889764 } ], "primaryId": "HGNC:20822", "crossReferences": [ { "id": "ENSEMBL:ENSG00000162618" }, { "id": "NCBI_Gene:64123" }, { "id": "PANTHER:PTHR12011" }, { "id": "UniProtKB:Q9HBW9" }, { "pages": [ "gene/references" ], "id": "RGD:1347532" }, { "pages": [ "gene" ], "id": "HGNC:20822" }, { "id": "RGD:1347532" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRV1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "adhesion G protein-coupled receptor V1", "basicGeneticEntity": { "synonyms": [ "DKFZp761P0710", "FEB4", "G protein-coupled receptor 98", "G-protein coupled receptor 98", "GPR98", "KIAA0686", "MASS1", "USH2B", "USH2C", "Usher syndrome 2B (autosomal recessive, mild)", "Usher syndrome 2C (autosomal recessive)", "VLGR1", "VLGR1b", "adhesion G-protein coupled receptor V1", "febrile convulsions 4", "monogenic audiogenic seizure susceptibility protein 1 homolog", "monogenic, audiogenic seizure susceptibility 1 homolog", "monogenic, audiogenic seizure susceptibility 1 homolog (mouse)", "usher syndrome type-2C protein", "very large G protein-coupled receptor 1", "very large G-protein coupled receptor 1" ], "secondaryIds": [ "RGD:1318161" ], "genomeLocations": [ { "strand": "+", "endPosition": 91164437, "chromosome": "5", "assembly": "GRCh38", "startPosition": 90529344 } ], "primaryId": "HGNC:17416", "crossReferences": [ { "id": "ENSEMBL:ENSG00000164199" }, { "id": "NCBI_Gene:84059" }, { "id": "PANTHER:PTHR46682" }, { "id": "UniProtKB:Q8WXG9" }, { "pages": [ "gene/references" ], "id": "RGD:1318161" }, { "pages": [ "gene" ], "id": "HGNC:17416" }, { "id": "RGD:1318161" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADGRV1-AS1", "soTermId": "SO:0001263", "name": "ADGRV1 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LOC105379077", "uncharacterized LOC105379077" ], "secondaryIds": [ "RGD:38623434" ], "genomeLocations": [ { "strand": "-", "endPosition": 90741269, "chromosome": "5", "assembly": "GRCh38", "startPosition": 90713517 } ], "primaryId": "HGNC:59094", "crossReferences": [ { "id": "NCBI_Gene:105379077" }, { "pages": [ "gene/references" ], "id": "RGD:38623434" }, { "pages": [ "gene" ], "id": "HGNC:59094" }, { "id": "RGD:38623434" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADH1A", "geneSynopsis": "This gene encodes a member of the alcohol dehydrogenase family. The encoded protein is the alpha subunit of class I alcohol dehydrogenase, which consists of several homo- and heterodimers of alpha, beta and gamma subunits. Alcohol dehydrogenases catalyze the oxidation of alcohols to aldehydes. This gene is active in the liver in early fetal life but only weakly active in adult liver. This gene is found in a cluster with six additional alcohol dehydrogenase genes, including those encoding the beta and gamma subunits, on the long arm of chromosome 4. Mutations in this gene may contribute to variation in certain personality traits and substance dependence. [provided by RefSeq, Nov 2010]", "soTermId": "SO:0001217", "name": "alcohol dehydrogenase 1A (class I), alpha polypeptide", "basicGeneticEntity": { "synonyms": [ "ADH, alpha subunit", "ADH1", "alcohol dehydrogenase 1 (class I), alpha polypeptide", "alcohol dehydrogenase 1A", "alcohol dehydrogenase subunit alpha", "aldehyde reductase" ], "secondaryIds": [ "RGD:1349763" ], "genomeLocations": [ { "strand": "-", "endPosition": 99291552, "chromosome": "4", "assembly": "GRCh38", "startPosition": 99276365 } ], "primaryId": "HGNC:249", "crossReferences": [ { "id": "ENSEMBL:ENSG00000187758" }, { "id": "NCBI_Gene:124" }, { "id": "PANTHER:PTHR43880" }, { "id": "UniProtKB:P07327" }, { "pages": [ "gene/references" ], "id": "RGD:1349763" }, { "pages": [ "gene" ], "id": "HGNC:249" }, { "id": "RGD:1349763" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADH1B", "geneSynopsis": "The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]", "soTermId": "SO:0001217", "name": "alcohol dehydrogenase 1B (class I), beta polypeptide", "basicGeneticEntity": { "synonyms": [ "ADH, beta subunit", "ADH2", "DKFZp686C06125", "HEL-S-117", "alcohol dehydrogenase 1B", "alcohol dehydrogenase 2 (class I), beta polypeptide", "alcohol dehydrogenase subunit beta", "aldehyde reductase", "all-trans-retinol dehydrogenase [NAD(+)] ADH1B", "epididymis secretory protein Li 117" ], "secondaryIds": [ "RGD:1348288" ], "genomeLocations": [ { "strand": "-", "endPosition": 99321659, "chromosome": "4", "assembly": "GRCh38", "startPosition": 99304971 } ], "primaryId": "HGNC:250", "crossReferences": [ { "id": "ENSEMBL:ENSG00000196616" }, { "id": "NCBI_Gene:125" }, { "id": "PANTHER:PTHR43880" }, { "id": "UniProtKB:P00325" }, { "pages": [ "gene/references" ], "id": "RGD:1348288" }, { "pages": [ "gene" ], "id": "HGNC:250" }, { "id": "RGD:1348288" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADH1C", "geneSynopsis": "This gene encodes class I alcohol dehydrogenase, gamma subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation to acetaldehyde, thus playing a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. An association between ADH1C polymorphism and alcohol dependence has not been established. [provided by RefSeq, Sep 2019]", "soTermId": "SO:0001217", "name": "alcohol dehydrogenase 1C (class I), gamma polypeptide", "basicGeneticEntity": { "synonyms": [ "ADH, gamma subunit", "ADH3", "alcohol dehydrogenase 1C", "alcohol dehydrogenase 3 (class I), gamma polypeptide", "alcohol dehydrogenase subunit gamma", "aldehyde reductase" ], "secondaryIds": [ "RGD:1344246" ], "genomeLocations": [ { "strand": "-", "endPosition": 99353887, "chromosome": "4", "assembly": "GRCh38", "startPosition": 99336093 } ], "primaryId": "HGNC:251", "crossReferences": [ { "id": "ENSEMBL:ENSG00000248144" }, { "id": "NCBI_Gene:126" }, { "id": "PANTHER:PTHR43880" }, { "id": "UniProtKB:P00326" }, { "pages": [ "gene/references" ], "id": "RGD:1344246" }, { "pages": [ "gene" ], "id": "HGNC:251" }, { "id": "RGD:1344246" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADH4", "geneSynopsis": "This gene encodes class II alcohol dehydrogenase 4 pi subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class II alcohol dehydrogenase is a homodimer composed of 2 pi subunits. It exhibits a high activity for oxidation of long-chain aliphatic alcohols and aromatic alcohols and is less sensitive to pyrazole. This gene is localized to chromosome 4 in the cluster of alcohol dehydrogenase genes. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "alcohol dehydrogenase 4 (class II), pi polypeptide", "basicGeneticEntity": { "synonyms": [ "ADH-2", "HEL-S-4", "alcohol dehydrogenase 2", "alcohol dehydrogenase 4", "alcohol dehydrogenase class II pi chain", "aldehyde reductase", "all-trans-retinol dehydrogenase [NAD(+)] ADH4", "epididymis secretory protein Li 4" ], "secondaryIds": [ "RGD:735489" ], "genomeLocations": [ { "strand": "-", "endPosition": 99157792, "chromosome": "4", "assembly": "GRCh38", "startPosition": 99123657 } ], "primaryId": "HGNC:252", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198099" }, { "id": "NCBI_Gene:127" }, { "id": "PANTHER:PTHR43880" }, { "id": "UniProtKB:P08319" }, { "pages": [ "gene/references" ], "id": "RGD:735489" }, { "pages": [ "gene" ], "id": "HGNC:252" }, { "id": "RGD:735489" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADH5", "geneSynopsis": "This gene encodes a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The encoded protein forms a homodimer. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis. The human genome contains several non-transcribed pseudogenes related to this gene. [provided by RefSeq, Oct 2008]", "soTermId": "SO:0001217", "name": "alcohol dehydrogenase 5 (class III), chi polypeptide", "basicGeneticEntity": { "synonyms": [ "ADH-3", "ADHX", "AMEDS", "BMFS7", "FALDH", "FDH", "GSH-FDH", "GSNOR", "HEL-S-60p", "S-(hydroxymethyl)glutathione dehydrogenase", "S-nitrosoglutathione reductase", "alcohol dehydrogenase (class III), chi polypeptide", "alcohol dehydrogenase class chi chain", "alcohol dehydrogenase class-3", "alcohol dehydrogenase class-III", "epididymis secretory sperm binding protein Li 60p", "formaldehyde dehydrogenase", "glutathione-dependent formaldehyde dehydrogenase" ], "secondaryIds": [ "RGD:1351578" ], "genomeLocations": [ { "strand": "-", "endPosition": 99088801, "chromosome": "4", "assembly": "GRCh38", "startPosition": 99070978 } ], "primaryId": "HGNC:253", "crossReferences": [ { "id": "ENSEMBL:ENSG00000197894" }, { "id": "NCBI_Gene:128" }, { "id": "PANTHER:PTHR43880" }, { "id": "UniProtKB:P11766" }, { "pages": [ "gene/references" ], "id": "RGD:1351578" }, { "pages": [ "gene" ], "id": "HGNC:253" }, { "id": "RGD:1351578" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADH5P2", "geneSynopsis": "INTERACTS WITH S-(1,2-dichlorovinyl)-L-cysteine", "soTermId": "SO:0000336", "name": "ADH5 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 2" ], "secondaryIds": [ "RGD:1342585" ], "genomeLocations": [ { "strand": "+", "endPosition": 79522468, "chromosome": "1", "assembly": "GRCh38", "startPosition": 79521067 } ], "primaryId": "HGNC:22976", "crossReferences": [ { "id": "ENSEMBL:ENSG00000232676" }, { "id": "NCBI_Gene:343296" }, { "pages": [ "gene/references" ], "id": "RGD:1342585" }, { "pages": [ "gene" ], "id": "HGNC:22976" }, { "id": "RGD:1342585" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADH5P3", "soTermId": "SO:0000336", "name": "ADH5 pseudogene 3", "basicGeneticEntity": { "synonyms": [ "alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 3" ], "secondaryIds": [ "RGD:1352662" ], "genomeLocations": [ { "strand": "+", "endPosition": 240171530, "chromosome": "1", "assembly": "GRCh38", "startPosition": 240170143 } ], "primaryId": "HGNC:22991", "crossReferences": [ { "id": "ENSEMBL:ENSG00000223694" }, { "id": "NCBI_Gene:100131810" }, { "pages": [ "gene/references" ], "id": "RGD:1352662" }, { "pages": [ "gene" ], "id": "HGNC:22991" }, { "id": "RGD:1352662" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADH5P4", "geneSynopsis": "INTERACTS WITH lipopolysaccharide; resveratrol; S-(1,2-dichlorovinyl)-L-cysteine", "soTermId": "SO:0000336", "name": "ADH5 pseudogene 4", "basicGeneticEntity": { "synonyms": [ "ADH5B", "RCADH5", "alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 4", "bA707M13.2" ], "secondaryIds": [ "RGD:1342497" ], "genomeLocations": [ { "strand": "-", "endPosition": 65838068, "chromosome": "6", "assembly": "GRCh38", "startPosition": 65835477 } ], "primaryId": "HGNC:21377", "crossReferences": [ { "id": "ENSEMBL:ENSG00000233859" }, { "id": "NCBI_Gene:642443" }, { "pages": [ "gene/references" ], "id": "RGD:1342497" }, { "pages": [ "gene" ], "id": "HGNC:21377" }, { "id": "RGD:1342497" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADH5P5", "soTermId": "SO:0000336", "name": "ADH5 pseudogene 5", "basicGeneticEntity": { "synonyms": [ "AC026784.1", "AC026784.2", "alcohol dehydrogenase 5 (class III), chi polypeptide (ADH5) pseudogene" ], "secondaryIds": [ "RGD:14982711" ], "genomeLocations": [ { "strand": "+", "endPosition": 23980938, "chromosome": "5", "assembly": "GRCh38", "startPosition": 23980587 } ], "primaryId": "HGNC:54523", "crossReferences": [ { "id": "ENSEMBL:ENSG00000234865" }, { "id": "NCBI_Gene:115945146" }, { "pages": [ "gene/references" ], "id": "RGD:14982711" }, { "pages": [ "gene" ], "id": "HGNC:54523" }, { "id": "RGD:14982711" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADH6", "geneSynopsis": "This gene encodes class V alcohol dehydrogenase, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This gene is expressed in the stomach as well as in the liver, and it contains a glucocorticoid response element upstream of its 5' UTR, which is a steroid hormone receptor binding site. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "alcohol dehydrogenase 6 (class V)", "basicGeneticEntity": { "synonyms": [ "ADH-5", "alcohol dehydrogenase 6", "aldehyde reductase" ], "secondaryIds": [ "RGD:1314863" ], "genomeLocations": [ { "strand": "-", "endPosition": 99219537, "chromosome": "4", "assembly": "GRCh38", "startPosition": 99202436 } ], "primaryId": "HGNC:255", "crossReferences": [ { "id": "ENSEMBL:ENSG00000172955" }, { "id": "NCBI_Gene:130" }, { "id": "PANTHER:PTHR43880" }, { "id": "UniProtKB:P28332" }, { "pages": [ "gene/references" ], "id": "RGD:1314863" }, { "pages": [ "gene" ], "id": "HGNC:255" }, { "id": "RGD:1314863" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADH7", "geneSynopsis": "This gene encodes class IV alcohol dehydrogenase 7 mu or sigma subunit, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The enzyme encoded by this gene is inefficient in ethanol oxidation, but is the most active as a retinol dehydrogenase; thus it may participate in the synthesis of retinoic acid, a hormone important for cellular differentiation. The expression of this gene is much more abundant in stomach than liver, thus differing from the other known gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]", "soTermId": "SO:0001217", "name": "alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide", "basicGeneticEntity": { "synonyms": [ "ADH-4", "ADH4", "alcohol dehydrogenase VII", "alcohol dehydrogenase class 4 mu/sigma chain", "alcohol dehydrogenase class IV mu/sigma chain", "alcohol dehydrogenase-7", "all-trans-retinol dehydrogenase [NAD(+)] ADH7", "class IV sigma-1 alcohol dehydrogenase", "class IV sigmasigma alcohol dehydrogenase", "gastric alcohol dehydrogenase", "omega-hydroxydecanoate dehydrogenase ADH7", "retinol dehydrogenase" ], "secondaryIds": [ "RGD:737541" ], "genomeLocations": [ { "strand": "-", "endPosition": 99435510, "chromosome": "4", "assembly": "GRCh38", "startPosition": 99412261 } ], "primaryId": "HGNC:256", "crossReferences": [ { "id": "ENSEMBL:ENSG00000196344" }, { "id": "NCBI_Gene:131" }, { "id": "PANTHER:PTHR43880" }, { "id": "UniProtKB:P40394" }, { "pages": [ "gene/references" ], "id": "RGD:737541" }, { "pages": [ "gene" ], "id": "HGNC:256" }, { "id": "RGD:737541" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADHFE1", "geneSynopsis": "The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "alcohol dehydrogenase iron containing 1", "basicGeneticEntity": { "synonyms": [ "ADH8", "FLJ32430", "Fe-containing alcohol dehydrogenase 1", "HMFT2263", "HOT", "MGC48605", "alcohol dehydrogenase 8", "alcohol dehydrogenase iron-containing protein 1", "alcohol dehydrogenase, iron containing 1", "alcohol dehydrogenase, iron containing, 1", "hydroxyacid-oxoacid transhydrogenase, mitochondrial" ], "secondaryIds": [ "RGD:1318880" ], "genomeLocations": [ { "strand": "+", "endPosition": 66468907, "chromosome": "8", "assembly": "GRCh38", "startPosition": 66432467 } ], "primaryId": "HGNC:16354", "crossReferences": [ { "id": "ENSEMBL:ENSG00000147576" }, { "id": "NCBI_Gene:137872" }, { "id": "PANTHER:PTHR11496" }, { "id": "UniProtKB:Q8IWW8" }, { "pages": [ "gene/references" ], "id": "RGD:1318880" }, { "pages": [ "gene" ], "id": "HGNC:16354" }, { "id": "RGD:1318880" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADI1", "geneSynopsis": "This gene encodes an enzyme that belongs to the aci-reductone dioxygenase family of metal-binding enzymes, which are involved in methionine salvage. This enzyme may regulate mRNA processing in the nucleus, and may carry out different functions depending on its localization. Related pseudogenes have been defined on chromosomes 8 and 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]", "soTermId": "SO:0001217", "name": "acireductone dioxygenase 1", "basicGeneticEntity": { "synonyms": [ "1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase", "APL1", "ARD", "ARD'", "FLJ10913", "Fe-ARD", "HMFT1638", "MT1-MMP cytoplasmic tail-binding protein-1", "MTCBP-1", "MTCBP1", "Ni-ARD", "SIPL", "acireductone dioxygenase", "acireductone dioxygenase (Fe(2+)-requiring)", "acireductone dioxygenase (Ni(2+)-requiring)", "membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1", "mtnD", "submergence induced protein 2", "submergence-induced protein-like factor" ], "secondaryIds": [ "RGD:1602478" ], "genomeLocations": [ { "strand": "-", "endPosition": 3519559, "chromosome": "2", "assembly": "GRCh38", "startPosition": 3497366 } ], "primaryId": "HGNC:30576", "crossReferences": [ { "id": "ENSEMBL:ENSG00000182551" }, { "id": "NCBI_Gene:55256" }, { "id": "PANTHER:PTHR23418" }, { "id": "UniProtKB:Q9BV57" }, { "pages": [ "gene/references" ], "id": "RGD:1602478" }, { "pages": [ "gene" ], "id": "HGNC:30576" }, { "id": "RGD:1602478" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADI1P1", "soTermId": "SO:0000336", "name": "acireductone dioxygenase 1 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:11520770" ], "genomeLocations": [ { "strand": "+", "endPosition": 41333241, "chromosome": "20", "assembly": "GRCh38", "startPosition": 41331122 } ], "primaryId": "HGNC:52339", "crossReferences": [ { "id": "ENSEMBL:ENSG00000235102" }, { "id": "NCBI_Gene:100130936" }, { "pages": [ "gene/references" ], "id": "RGD:11520770" }, { "pages": [ "gene" ], "id": "HGNC:52339" }, { "id": "RGD:11520770" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADI1P2", "soTermId": "SO:0000336", "name": "acireductone dioxygenase 1 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:11520774" ], "genomeLocations": [ { "strand": "-", "endPosition": 102688932, "chromosome": "8", "assembly": "GRCh38", "startPosition": 102687953 } ], "primaryId": "HGNC:52340", "crossReferences": [ { "id": "ENSEMBL:ENSG00000250684" }, { "id": "NCBI_Gene:100288971" }, { "pages": [ "gene/references" ], "id": "RGD:11520774" }, { "pages": [ "gene" ], "id": "HGNC:52340" }, { "id": "RGD:11520774" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADI1P3", "soTermId": "SO:0000336", "name": "acireductone dioxygenase 1 pseudogene 3", "basicGeneticEntity": { "secondaryIds": [ "RGD:11520754" ], "genomeLocations": [ { "strand": "+", "endPosition": 47463621, "chromosome": "12", "assembly": "GRCh38", "startPosition": 47463087 } ], "primaryId": "HGNC:52341", "crossReferences": [ { "id": "ENSEMBL:ENSG00000258369" }, { "id": "NCBI_Gene:100288129" }, { "pages": [ "gene/references" ], "id": "RGD:11520754" }, { "pages": [ "gene" ], "id": "HGNC:52341" }, { "id": "RGD:11520754" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADIG", "geneSynopsis": "ADIG/SMAF1 is an adipocyte-specific protein that plays a role in adipocyte differentiation (Kim et al., 2005 [PubMed 15567149]; Hong et al., 2005 [PubMed 16132694]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "adipogenin", "basicGeneticEntity": { "synonyms": [ "KIAA1219", "MGC149650", "MGC39724", "RP5-1100H13.2", "SMAF1", "adipogenesis associated", "small adipocyte factor 1 (SMAF1)" ], "secondaryIds": [ "RGD:1606699" ], "genomeLocations": [ { "strand": "+", "endPosition": 38588463, "chromosome": "20", "assembly": "GRCh38", "startPosition": 38581195 } ], "primaryId": "HGNC:28606", "crossReferences": [ { "id": "ENSEMBL:ENSG00000182035" }, { "id": "NCBI_Gene:149685" }, { "id": "PANTHER:PTHR38499" }, { "id": "UniProtKB:Q0VDE8" }, { "pages": [ "gene/references" ], "id": "RGD:1606699" }, { "pages": [ "gene" ], "id": "HGNC:28606" }, { "id": "RGD:1606699" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADIPINT", "soTermId": "SO:0001263", "name": "adipocyte associated pyruvate carboxylase interacting lncRNA", "basicGeneticEntity": { "synonyms": [ "Adipocyte specific pyruvate carboxylase interacting RNA" ], "secondaryIds": [ "RGD:153305942" ], "genomeLocations": [ { "strand": "+", "endPosition": 98929534, "chromosome": "9", "assembly": "GRCh38", "startPosition": 98911204 } ], "primaryId": "HGNC:56273", "crossReferences": [ { "id": "ENSEMBL:ENSG00000292223" }, { "id": "NCBI_Gene:125906382" }, { "pages": [ "gene/references" ], "id": "RGD:153305942" }, { "pages": [ "gene" ], "id": "HGNC:56273" }, { "id": "RGD:153305942" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADIPOQ", "geneSynopsis": "This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in this gene are associated with adiponectin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Apr 2010]", "soTermId": "SO:0001217", "name": "adiponectin, C1Q and collagen domain containing", "basicGeneticEntity": { "synonyms": [ "30 kDa adipocyte complement-related protein", "ACDC", "ACRP30", "ADIPQTL1", "ADPN", "APM-1", "APM1", "GBP28", "adipocyte complement-related 30 kDa protein", "adiponectin", "adipose most abundant gene transcript 1 protein", "adipose specific collagen-like factor", "gelatin-binding protein 28" ], "secondaryIds": [ "RGD:1351472" ], "genomeLocations": [ { "strand": "+", "endPosition": 186858463, "chromosome": "3", "assembly": "GRCh38", "startPosition": 186842704 } ], "primaryId": "HGNC:13633", "crossReferences": [ { "id": "ENSEMBL:ENSG00000181092" }, { "id": "NCBI_Gene:9370" }, { "id": "PANTHER:PTHR15427" }, { "id": "UniProtKB:Q15848" }, { "pages": [ "gene/references" ], "id": "RGD:1351472" }, { "pages": [ "gene" ], "id": "HGNC:13633" }, { "id": "RGD:1351472" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADIPOQ-AS1", "soTermId": "SO:0001263", "name": "ADIPOQ antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "RP11-240O9.2" ], "secondaryIds": [ "RGD:6481304" ], "genomeLocations": [ { "strand": "-", "endPosition": 186861368, "chromosome": "3", "assembly": "GRCh38", "startPosition": 186851886 } ], "primaryId": "HGNC:40648", "crossReferences": [ { "id": "ENSEMBL:ENSG00000226482" }, { "id": "NCBI_Gene:100874095" }, { "pages": [ "gene/references" ], "id": "RGD:6481304" }, { "pages": [ "gene" ], "id": "HGNC:40648" }, { "id": "RGD:6481304" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADIPOR1", "geneSynopsis": "This gene encodes a protein which acts as a receptor for adiponectin, a hormone secreted by adipocytes which regulates fatty acid catabolism and glucose levels. Binding of adiponectin to the encoded protein results in activation of an AMP-activated kinase signaling pathway which affects levels of fatty acid oxidation and insulin sensitivity. A pseudogene of this gene is located on chromosome 14. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2014]", "soTermId": "SO:0001217", "name": "adiponectin receptor 1", "basicGeneticEntity": { "synonyms": [ "ACDCR1", "CGI-45", "CGI45", "FLJ25385", "FLJ42464", "PAQR1", "TESBP1A", "adiponectin receptor protein 1", "progestin and adipoQ receptor family member 1", "progestin and adipoQ receptor family member I" ], "secondaryIds": [ "RGD:1344545" ], "genomeLocations": [ { "strand": "-", "endPosition": 202958572, "chromosome": "1", "assembly": "GRCh38", "startPosition": 202940090 } ], "primaryId": "HGNC:24040", "crossReferences": [ { "id": "ENSEMBL:ENSG00000159346" }, { "id": "NCBI_Gene:51094" }, { "id": "PANTHER:PTHR20855" }, { "id": "UniProtKB:Q96A54" }, { "pages": [ "gene/references" ], "id": "RGD:1344545" }, { "pages": [ "gene" ], "id": "HGNC:24040" }, { "id": "RGD:1344545" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADIPOR1P1", "soTermId": "SO:0000336", "name": "adiponectin receptor 1 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:7205113" ], "genomeLocations": [ { "strand": "+", "endPosition": 22165794, "chromosome": "10", "assembly": "GRCh38", "startPosition": 22162992 } ], "primaryId": "HGNC:44910", "crossReferences": [ { "id": "ENSEMBL:ENSG00000232497" }, { "id": "NCBI_Gene:645220" }, { "pages": [ "gene/references" ], "id": "RGD:7205113" }, { "pages": [ "gene" ], "id": "HGNC:44910" }, { "id": "RGD:7205113" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADIPOR1P2", "soTermId": "SO:0000336", "name": "adiponectin receptor 1 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:7205280" ], "genomeLocations": [ { "strand": "+", "endPosition": 94634574, "chromosome": "14", "assembly": "GRCh38", "startPosition": 94631863 } ], "primaryId": "HGNC:44911", "crossReferences": [ { "id": "ENSEMBL:ENSG00000258805" }, { "id": "NCBI_Gene:390503" }, { "pages": [ "gene/references" ], "id": "RGD:7205280" }, { "pages": [ "gene" ], "id": "HGNC:44911" }, { "id": "RGD:7205280" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADIPOR2", "geneSynopsis": "The adiponectin receptors, ADIPOR1 (MIM 607945) and ADIPOR2, serve as receptors for globular and full-length adiponectin (MIM 605441) and mediate increased AMPK (see MIM 602739) and PPAR-alpha (PPARA; MIM 170998) ligand activities, as well as fatty acid oxidation and glucose uptake by adiponectin (Yamauchi et al., 2003 [PubMed 12802337]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "adiponectin receptor 2", "basicGeneticEntity": { "synonyms": [ "ACDCR2", "FLJ21432", "MGC4640", "PAQR2", "adiponectin receptor protein 2", "progestin and adipoQ receptor family member 2", "progestin and adipoQ receptor family member II" ], "secondaryIds": [ "RGD:1317349" ], "genomeLocations": [ { "strand": "+", "endPosition": 1788680, "chromosome": "12", "assembly": "GRCh38", "startPosition": 1688574 } ], "primaryId": "HGNC:24041", "crossReferences": [ { "id": "ENSEMBL:ENSG00000006831" }, { "id": "ENSEMBL:ENSG00000285070" }, { "id": "NCBI_Gene:79602" }, { "id": "PANTHER:PTHR20855" }, { "id": "UniProtKB:Q86V24" }, { "pages": [ "gene/references" ], "id": "RGD:1317349" }, { "pages": [ "gene" ], "id": "HGNC:24041" }, { "id": "RGD:1317349" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADIRF", "geneSynopsis": "APM2 gene is exclusively expressed in adipose tissue. Its function is currently unknown. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adipogenesis regulatory factor", "basicGeneticEntity": { "synonyms": [ "AFRO", "APM2", "C10orf116", "RP11-96C23.4", "adipogenesis factor rich in obesity", "adipose most abundant gene transcript 2 protein", "adipose specific 2", "adipose-specific protein 2", "apM-2" ], "secondaryIds": [ "RGD:1348184" ], "genomeLocations": [ { "strand": "+", "endPosition": 87007922, "chromosome": "10", "assembly": "GRCh38", "startPosition": 86968432 } ], "primaryId": "HGNC:24043", "crossReferences": [ { "id": "ENSEMBL:ENSG00000148671" }, { "id": "NCBI_Gene:10974" }, { "id": "PANTHER:PTHR39227" }, { "id": "UniProtKB:Q15847" }, { "pages": [ "gene/references" ], "id": "RGD:1348184" }, { "pages": [ "gene" ], "id": "HGNC:24043" }, { "id": "RGD:1348184" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADIRF-AS1", "geneSynopsis": "INTERACTS WITH antirheumatic drug; dimethylselenide; nickel atom", "soTermId": "SO:0001263", "name": "ADIRF antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:7241120" ], "genomeLocations": [ { "strand": "-", "endPosition": 86974630, "chromosome": "10", "assembly": "GRCh38", "startPosition": 86965287 } ], "primaryId": "HGNC:45127", "crossReferences": [ { "id": "ENSEMBL:ENSG00000272734" }, { "id": "NCBI_Gene:100133190" }, { "pages": [ "gene/references" ], "id": "RGD:7241120" }, { "pages": [ "gene" ], "id": "HGNC:45127" }, { "id": "RGD:7241120" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADISSP", "geneSynopsis": "Enables protein phosphatase 1 binding activity. Involved in positive regulation of non-canonical NF-kappaB signal transduction and positive regulation of transforming growth factor beta receptor signaling pathway. Predicted to be located in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "adipose secreted signaling protein", "basicGeneticEntity": { "synonyms": [ "C20orf27", "FLJ20550", "UPF0687 protein C20orf27", "chromosome 20 open reading frame 27", "hypothetical protein LOC54976" ], "secondaryIds": [ "RGD:1323352" ], "genomeLocations": [ { "strand": "-", "endPosition": 3768738, "chromosome": "20", "assembly": "GRCh38", "startPosition": 3753505 } ], "primaryId": "HGNC:15873", "crossReferences": [ { "id": "ENSEMBL:ENSG00000101220" }, { "id": "NCBI_Gene:54976" }, { "id": "PANTHER:PTHR13287" }, { "id": "UniProtKB:Q9GZN8" }, { "pages": [ "gene/references" ], "id": "RGD:1323352" }, { "pages": [ "gene" ], "id": "HGNC:15873" }, { "id": "RGD:1323352" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADISSPP1", "soTermId": "SO:0000336", "name": "ADISSP pseudogene 1", "basicGeneticEntity": { "synonyms": [ "LOC390314", "adipose secreted signaling protein pseudogene", "chromosome 20 open reading frame 27 pseudogene" ], "secondaryIds": [ "RGD:38675826" ], "genomeLocations": [ { "strand": "-", "endPosition": 48801258, "chromosome": "12", "assembly": "GRCh38", "startPosition": 48800375 } ], "primaryId": "HGNC:58498", "crossReferences": [ { "id": "NCBI_Gene:390314" }, { "pages": [ "gene/references" ], "id": "RGD:38675826" }, { "pages": [ "gene" ], "id": "HGNC:58498" }, { "id": "RGD:38675826" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADISSPP2", "soTermId": "SO:0000336", "name": "ADISSP pseudogene 2", "basicGeneticEntity": { "synonyms": [ "LOC647086", "adipose secreted signaling protein pseudogene", "chromosome 20 open reading frame 27 pseudogene" ], "secondaryIds": [ "RGD:38657659" ], "genomeLocations": [ { "strand": "-", "endPosition": 30821514, "chromosome": "16", "assembly": "GRCh38", "startPosition": 30820873 } ], "primaryId": "HGNC:58499", "crossReferences": [ { "id": "NCBI_Gene:647086" }, { "pages": [ "gene/references" ], "id": "RGD:38657659" }, { "pages": [ "gene" ], "id": "HGNC:58499" }, { "id": "RGD:38657659" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADK", "geneSynopsis": "This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]", "soTermId": "SO:0001217", "name": "adenosine kinase", "basicGeneticEntity": { "synonyms": [ "AK", "N6,N6-dimethyladenosine kinase", "N6-isopentenyladenosine kinase", "N6-methyladenosine kinase", "adenosine 5'-phosphotransferase", "testicular tissue protein Li 14" ], "secondaryIds": [ "RGD:737582" ], "genomeLocations": [ { "strand": "+", "endPosition": 74709963, "chromosome": "10", "assembly": "GRCh38", "startPosition": 74151191 } ], "primaryId": "HGNC:257", "crossReferences": [ { "id": "ENSEMBL:ENSG00000156110" }, { "id": "NCBI_Gene:132" }, { "id": "PANTHER:PTHR45769" }, { "id": "UniProtKB:P55263" }, { "pages": [ "gene/references" ], "id": "RGD:737582" }, { "pages": [ "gene" ], "id": "HGNC:257" }, { "id": "RGD:737582" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADK-AS1", "soTermId": "SO:0001263", "name": "ADK antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LOC102723439", "uncharacterized LOC102723439" ], "secondaryIds": [ "RGD:38644036" ], "genomeLocations": [ { "strand": "-", "endPosition": 74529324, "chromosome": "10", "assembly": "GRCh38", "startPosition": 74506498 } ], "primaryId": "HGNC:58381", "crossReferences": [ { "id": "NCBI_Gene:102723439" }, { "pages": [ "gene/references" ], "id": "RGD:38644036" }, { "pages": [ "gene" ], "id": "HGNC:58381" }, { "id": "RGD:38644036" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADM", "geneSynopsis": "The protein encoded by this gene is a preprohormone which is cleaved to form two biologically active peptides, adrenomedullin and proadrenomedullin N-terminal 20 peptide. Adrenomedullin is a 52 aa peptide with several functions, including vasodilation, regulation of hormone secretion, promotion of angiogenesis, and antimicrobial activity. The antimicrobial activity is antibacterial, as the peptide has been shown to kill E. coli and S. aureus at low concentration. [provided by RefSeq, Aug 2014]", "soTermId": "SO:0001217", "name": "adrenomedullin", "basicGeneticEntity": { "synonyms": [ "AM", "PAMP", "preproadrenomedullin", "pro-adrenomedullin", "proadrenomedullin N-20 terminal peptide" ], "secondaryIds": [ "RGD:730917" ], "genomeLocations": [ { "strand": "+", "endPosition": 10307397, "chromosome": "11", "assembly": "GRCh38", "startPosition": 10303392 } ], "primaryId": "HGNC:259", "crossReferences": [ { "id": "ENSEMBL:ENSG00000148926" }, { "id": "NCBI_Gene:133" }, { "id": "PANTHER:PTHR23414" }, { "id": "UniProtKB:P35318" }, { "pages": [ "gene/references" ], "id": "RGD:730917" }, { "pages": [ "gene" ], "id": "HGNC:259" }, { "id": "RGD:730917" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADM-DT", "soTermId": "SO:0001263", "name": "ADM divergent transcript", "basicGeneticEntity": { "synonyms": [ "LOC105376544", "uncharacterized LOC105376544" ], "secondaryIds": [ "RGD:38617350" ], "genomeLocations": [ { "strand": "-", "endPosition": 10304987, "chromosome": "11", "assembly": "GRCh38", "startPosition": 10301745 } ], "primaryId": "HGNC:55516", "crossReferences": [ { "id": "NCBI_Gene:105376544" }, { "pages": [ "gene/references" ], "id": "RGD:38617350" }, { "pages": [ "gene" ], "id": "HGNC:55516" }, { "id": "RGD:38617350" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADM2", "geneSynopsis": "This gene encodes a member of the calcitonin gene-related peptide (CGRP)/calcitonin family of hormones that play a role in the regulation of cardiovascular homeostasis, prolactin release, anti-diuresis, anti-natriuresis, and regulation of food and water intake. The encoded protein is proteolytically processed to generate one or more biologically active peptides. [provided by RefSeq, Jul 2015]", "soTermId": "SO:0001217", "name": "adrenomedullin 2", "basicGeneticEntity": { "synonyms": [ "AM2", "FLJ21135", "dJ579N16.4", "intermedin" ], "secondaryIds": [ "RGD:1348112" ], "genomeLocations": [ { "strand": "+", "endPosition": 50486440, "chromosome": "22", "assembly": "GRCh38", "startPosition": 50481543 } ], "primaryId": "HGNC:28898", "crossReferences": [ { "id": "ENSEMBL:ENSG00000128165" }, { "id": "NCBI_Gene:79924" }, { "id": "PANTHER:PTHR23414" }, { "id": "UniProtKB:Q7Z4H4" }, { "pages": [ "gene/references" ], "id": "RGD:1348112" }, { "pages": [ "gene" ], "id": "HGNC:28898" }, { "id": "RGD:1348112" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADM5", "geneSynopsis": "Predicted to be involved in several processes, including adenylate cyclase-activating G protein-coupled receptor signaling pathway; positive regulation of heart rate; and regulation of urine volume. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "adrenomedullin 5 (putative)", "basicGeneticEntity": { "synonyms": [ "AM5", "C19orf76", "adrenomedullin 5 homolog (pig)", "putative adrenomedullin-5-like protein" ], "secondaryIds": [ "RGD:3499499" ], "genomeLocations": [ { "strand": "+", "endPosition": 49690575, "chromosome": "19", "assembly": "GRCh38", "startPosition": 49688953 } ], "primaryId": "HGNC:27293", "crossReferences": [ { "id": "ENSEMBL:ENSG00000224420" }, { "id": "NCBI_Gene:199800" }, { "id": "PANTHER:PTHR23414" }, { "id": "UniProtKB:C9JUS6" }, { "pages": [ "gene/references" ], "id": "RGD:3499499" }, { "pages": [ "gene" ], "id": "HGNC:27293" }, { "id": "RGD:3499499" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADNP", "geneSynopsis": "Vasoactive intestinal peptide is a neuroprotective factor that has a stimulatory effect on the growth of some tumor cells and an inhibitory effect on others. This gene encodes a protein that is upregulated by vasoactive intestinal peptide and may be involved in its stimulatory effect on certain tumor cells. The encoded protein contains one homeobox and nine zinc finger domains, suggesting that it functions as a transcription factor. This gene is also upregulated in normal proliferative tissues. Finally, the encoded protein may increase the viability of certain cell types through modulation of p53 activity. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "activity dependent neuroprotector homeobox", "basicGeneticEntity": { "synonyms": [ "ADNP homeobox 1", "ADNP1", "HVDAS", "KIAA0784", "MRD28", "activity-dependent neuroprotective protein", "activity-dependent neuroprotector", "activity-dependent neuroprotector homeobox" ], "secondaryIds": [ "RGD:737453" ], "genomeLocations": [ { "strand": "-", "endPosition": 50931437, "chromosome": "20", "assembly": "GRCh38", "startPosition": 50888916 } ], "primaryId": "HGNC:15766", "crossReferences": [ { "id": "ENSEMBL:ENSG00000101126" }, { "id": "NCBI_Gene:23394" }, { "id": "PANTHER:PTHR15740" }, { "id": "UniProtKB:Q9H2P0" }, { "pages": [ "gene/references" ], "id": "RGD:737453" }, { "pages": [ "gene" ], "id": "HGNC:15766" }, { "id": "RGD:737453" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADNP-AS1", "geneSynopsis": "INTERACTS WITH cadmium dichloride; sodium arsenite; sotorasib", "soTermId": "SO:0001263", "name": "ADNP antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:9068737" ], "genomeLocations": [ { "strand": "+", "endPosition": 50946531, "chromosome": "20", "assembly": "GRCh38", "startPosition": 50930236 } ], "primaryId": "HGNC:51227", "crossReferences": [ { "id": "ENSEMBL:ENSG00000259456" }, { "id": "NCBI_Gene:101927631" }, { "pages": [ "gene/references" ], "id": "RGD:9068737" }, { "pages": [ "gene" ], "id": "HGNC:51227" }, { "id": "RGD:9068737" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADNP2", "geneSynopsis": "Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in nervous system development and regulation of gene expression. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ADNP homeobox 2", "basicGeneticEntity": { "synonyms": [ "ADNP homeobox protein 2", "KIAA0863", "ZNF508", "activity-dependent neuroprotector homeobox protein 2", "zinc finger protein 508" ], "secondaryIds": [ "RGD:1605090" ], "genomeLocations": [ { "strand": "+", "endPosition": 80147523, "chromosome": "18", "assembly": "GRCh38", "startPosition": 80109262 } ], "primaryId": "HGNC:23803", "crossReferences": [ { "id": "ENSEMBL:ENSG00000101544" }, { "id": "NCBI_Gene:22850" }, { "id": "PANTHER:PTHR15740" }, { "id": "UniProtKB:Q6IQ32" }, { "pages": [ "gene/references" ], "id": "RGD:1605090" }, { "pages": [ "gene" ], "id": "HGNC:23803" }, { "id": "RGD:1605090" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADO", "geneSynopsis": "Human thiol dioxygenases include cysteine dioxygenase (CDO; MIM 603943) and cysteamine (2-aminoethanethiol) dioxygenase (ADO; EC 1.13.11.19). CDO adds 2 oxygen atoms to free cysteine, whereas ADO adds 2 oxygen atoms to free cysteamine to form hypotaurine (Dominy et al., 2007 [PubMed 17581819]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "2-aminoethanethiol dioxygenase", "basicGeneticEntity": { "synonyms": [ "2-aminoethanethiol (cysteamine) dioxygenase", "C10orf22", "DKFZp564C046", "FLJ14547", "cysteamine (2-aminoethanethiol) dioxygenase (ADO)", "cysteamine dioxygenase" ], "secondaryIds": [ "RGD:1317890" ], "genomeLocations": [ { "strand": "+", "endPosition": 62808479, "chromosome": "10", "assembly": "GRCh38", "startPosition": 62804720 } ], "primaryId": "HGNC:23506", "crossReferences": [ { "id": "ENSEMBL:ENSG00000181915" }, { "id": "NCBI_Gene:84890" }, { "id": "PANTHER:PTHR22966" }, { "id": "UniProtKB:Q96SZ5" }, { "pages": [ "gene/references" ], "id": "RGD:1317890" }, { "pages": [ "gene" ], "id": "HGNC:23506" }, { "id": "RGD:1317890" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADORA1", "geneSynopsis": "The protein encoded by this gene is an adenosine receptor that belongs to the G-protein coupled receptor 1 family. There are 3 types of adenosine receptors, each with a specific pattern of ligand binding and tissue distribution, and together they regulate a diverse set of physiologic functions. The type A1 receptors inhibit adenylyl cyclase, and play a role in the fertilization process. Animal studies also suggest a role for A1 receptors in kidney function and ethanol intoxication. Transcript variants with alternative splicing in the 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adenosine A1 receptor", "basicGeneticEntity": { "synonyms": [ "RDC7", "adenosine A1 receptor variant 1", "adenosine A1 receptor variant 2", "adenosine receptor A1" ], "secondaryIds": [ "RGD:730817" ], "genomeLocations": [ { "strand": "+", "endPosition": 203167407, "chromosome": "1", "assembly": "GRCh38", "startPosition": 203090654 } ], "primaryId": "HGNC:262", "crossReferences": [ { "id": "ENSEMBL:ENSG00000163485" }, { "id": "NCBI_Gene:134" }, { "id": "PANTHER:PTHR24246" }, { "id": "UniProtKB:P30542" }, { "pages": [ "gene/references" ], "id": "RGD:730817" }, { "pages": [ "gene" ], "id": "HGNC:262" }, { "id": "RGD:730817" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADORA1-AS1", "soTermId": "SO:0001263", "name": "ADORA1 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:597621607" ], "primaryId": "HGNC:40067", "crossReferences": [ { "id": "NCBI_Gene:139355208" }, { "pages": [ "gene/references" ], "id": "RGD:597621607" }, { "pages": [ "gene" ], "id": "HGNC:40067" }, { "id": "RGD:597621607" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADORA1-AS2", "soTermId": "SO:0001263", "name": "ADORA1 antisense RNA 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:597621610" ], "primaryId": "HGNC:40066", "crossReferences": [ { "id": "NCBI_Gene:139355207" }, { "pages": [ "gene/references" ], "id": "RGD:597621610" }, { "pages": [ "gene" ], "id": "HGNC:40066" }, { "id": "RGD:597621610" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADORA2A", "geneSynopsis": "This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily, which is subdivided into classes and subtypes. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein, an adenosine receptor of A2A subtype, uses adenosine as the preferred endogenous agonist and preferentially interacts with the G(s) and G(olf) family of G proteins to increase intracellular cAMP levels. It plays an important role in many biological functions, such as cardiac rhythm and circulation, cerebral and renal blood flow, immune function, pain regulation, and sleep. It has been implicated in pathophysiological conditions such as inflammatory diseases and neurodegenerative disorders. Alternative splicing results in multiple transcript variants. A read-through transcript composed of the upstream SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]", "soTermId": "SO:0001217", "name": "adenosine A2a receptor", "basicGeneticEntity": { "synonyms": [ "A2aR", "ADORA2", "RDC8", "adenosine A2 receptor", "adenosine receptor A2a", "adenosine receptor subtype A2a", "hA2aR" ], "secondaryIds": [ "RGD:730999" ], "genomeLocations": [ { "strand": "+", "endPosition": 24443177, "chromosome": "22", "assembly": "GRCh38", "startPosition": 24417879 } ], "primaryId": "HGNC:263", "crossReferences": [ { "id": "ENSEMBL:ENSG00000128271" }, { "id": "NCBI_Gene:135" }, { "id": "PANTHER:PTHR24246" }, { "id": "UniProtKB:P29274" }, { "pages": [ "gene/references" ], "id": "RGD:730999" }, { "pages": [ "gene" ], "id": "HGNC:263" }, { "id": "RGD:730999" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADORA2A-AS1", "geneSynopsis": "INTERACTS WITH 4,4'-sulfonyldiphenol; aflatoxin B1; aristolochic acid A", "soTermId": "SO:0001263", "name": "ADORA2A antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "C22orf45", "FLJ34651", "hLinfRNA1" ], "secondaryIds": [ "RGD:3129815" ], "genomeLocations": [ { "strand": "-", "endPosition": 24495074, "chromosome": "22", "assembly": "GRCh38", "startPosition": 24429206 } ], "primaryId": "HGNC:37122", "crossReferences": [ { "id": "ENSEMBL:ENSG00000178803" }, { "id": "NCBI_Gene:646023" }, { "id": "UniProtKB:P86434" }, { "pages": [ "gene/references" ], "id": "RGD:3129815" }, { "pages": [ "gene" ], "id": "HGNC:37122" }, { "id": "RGD:3129815" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADORA2B", "geneSynopsis": "This gene encodes an adenosine receptor that is a member of the G protein-coupled receptor superfamily. This integral membrane protein stimulates adenylate cyclase activity in the presence of adenosine. This protein also interacts with netrin-1, which is involved in axon elongation. The gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adenosine A2b receptor", "basicGeneticEntity": { "synonyms": [ "ADORA2", "adenosine receptor A2b" ], "secondaryIds": [ "RGD:731019" ], "genomeLocations": [ { "strand": "+", "endPosition": 15975746, "chromosome": "17", "assembly": "GRCh38", "startPosition": 15850362 } ], "primaryId": "HGNC:264", "crossReferences": [ { "id": "ENSEMBL:ENSG00000170425" }, { "id": "NCBI_Gene:136" }, { "id": "PANTHER:PTHR24246" }, { "id": "UniProtKB:P29275" }, { "pages": [ "gene/references" ], "id": "RGD:731019" }, { "pages": [ "gene" ], "id": "HGNC:264" }, { "id": "RGD:731019" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADORA2BP1", "geneSynopsis": "INTERACTS WITH lipopolysaccharide; S-(1,2-dichlorovinyl)-L-cysteine", "soTermId": "SO:0000336", "name": "adenosine A2b receptor pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ADORA2BP" ], "secondaryIds": [ "RGD:1344356" ], "genomeLocations": [ { "strand": "+", "endPosition": 209745676, "chromosome": "1", "assembly": "GRCh38", "startPosition": 209744350 } ], "primaryId": "HGNC:265", "crossReferences": [ { "id": "ENSEMBL:ENSG00000236136" }, { "id": "NCBI_Gene:137" }, { "pages": [ "gene/references" ], "id": "RGD:1344356" }, { "pages": [ "gene" ], "id": "HGNC:265" }, { "id": "RGD:1344356" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADORA3", "geneSynopsis": "This gene encodes a protein that belongs to the family of adenosine receptors, which are G-protein-coupled receptors that are involved in a variety of intracellular signaling pathways and physiological functions. The receptor encoded by this gene mediates a sustained cardioprotective function during cardiac ischemia, it is involved in the inhibition of neutrophil degranulation in neutrophil-mediated tissue injury, it has been implicated in both neuroprotective and neurodegenerative effects, and it may also mediate both cell proliferation and cell death. Alternative splicing results in multiple transcript variants. This gene shares its 5' terminal exon with some transcripts from overlapping GeneID:57413, which encodes an immunoglobulin domain-containing protein. [provided by RefSeq, Nov 2014]", "soTermId": "SO:0001217", "name": "adenosine A3 receptor", "basicGeneticEntity": { "synonyms": [ "A3AR", "AD026", "RP11-552M11.7", "adenosine receptor A3", "bA552M11.5" ], "secondaryIds": [ "RGD:735600" ], "genomeLocations": [ { "strand": "-", "endPosition": 111503633, "chromosome": "1", "assembly": "GRCh38", "startPosition": 111499429 } ], "primaryId": "HGNC:268", "crossReferences": [ { "id": "ENSEMBL:ENSG00000282608" }, { "id": "NCBI_Gene:140" }, { "id": "PANTHER:PTHR24246" }, { "id": "UniProtKB:P0DMS8" }, { "pages": [ "gene/references" ], "id": "RGD:735600" }, { "pages": [ "gene" ], "id": "HGNC:268" }, { "id": "RGD:735600" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADPGK", "geneSynopsis": "ADPGK (EC 2.7.1.147) catalyzes the ADP-dependent phosphorylation of glucose to glucose-6-phosphate and may play a role in glycolysis, possibly during ischemic conditions (Ronimus and Morgan, 2004 [PubMed 14975750]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "ADP dependent glucokinase", "basicGeneticEntity": { "synonyms": [ "2610017G09Rik", "ADP-GK", "ADP-dependent glucokinase", "ATP-dependent glucokinase", "DKFZp434B195", "rbBP-35" ], "secondaryIds": [ "RGD:1353628" ], "genomeLocations": [ { "strand": "-", "endPosition": 72785846, "chromosome": "15", "assembly": "GRCh38", "startPosition": 72751294 } ], "primaryId": "HGNC:25250", "crossReferences": [ { "id": "ENSEMBL:ENSG00000159322" }, { "id": "NCBI_Gene:83440" }, { "id": "PANTHER:PTHR21208" }, { "id": "UniProtKB:Q9BRR6" }, { "pages": [ "gene/references" ], "id": "RGD:1353628" }, { "pages": [ "gene" ], "id": "HGNC:25250" }, { "id": "RGD:1353628" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADPGK-AS1", "geneSynopsis": "INTERACTS WITH cisplatin; rotenone; sodium arsenite", "soTermId": "SO:0001263", "name": "ADPGK antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "RP11-361M10.5" ], "secondaryIds": [ "RGD:6769553" ], "genomeLocations": [ { "strand": "+", "endPosition": 72798201, "chromosome": "15", "assembly": "GRCh38", "startPosition": 72782835 } ], "primaryId": "HGNC:44144", "crossReferences": [ { "id": "ENSEMBL:ENSG00000260898" }, { "id": "NCBI_Gene:100287559" }, { "pages": [ "gene/references" ], "id": "RGD:6769553" }, { "pages": [ "gene" ], "id": "HGNC:44144" }, { "id": "RGD:6769553" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADPRH", "geneSynopsis": "The enzyme encoded by this gene catalyzes removal of mono-ADP-ribose from arginine residues of proteins in the ADP-ribosylation cycle. Unlike the rat and mouse enzymes that require DTT for maximal activity, the human enzyme is DTT-independent. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, May 2014]", "soTermId": "SO:0001217", "name": "ADP-ribosylarginine hydrolase", "basicGeneticEntity": { "synonyms": [ "ADP-ribose-L-arginine cleaving enzyme", "ADP-ribosylhydrolase ARH1", "ARH1", "[Protein ADP-ribosylarginine] hydrolase", "hARH1" ], "secondaryIds": [ "RGD:732427" ], "genomeLocations": [ { "strand": "+", "endPosition": 119590165, "chromosome": "3", "assembly": "GRCh38", "startPosition": 119579268 } ], "primaryId": "HGNC:269", "crossReferences": [ { "id": "ENSEMBL:ENSG00000144843" }, { "id": "NCBI_Gene:141" }, { "id": "PANTHER:PTHR16222" }, { "id": "UniProtKB:P54922" }, { "pages": [ "gene/references" ], "id": "RGD:732427" }, { "pages": [ "gene" ], "id": "HGNC:269" }, { "id": "RGD:732427" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADPRH-AS1", "soTermId": "SO:0001263", "name": "ADPRH antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:629021581" ], "primaryId": "HGNC:58775", "crossReferences": [ { "id": "NCBI_Gene:144093373" }, { "pages": [ "gene/references" ], "id": "RGD:629021581" }, { "pages": [ "gene" ], "id": "HGNC:58775" }, { "id": "RGD:629021581" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADPRHL1", "geneSynopsis": "ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases, such as ADPRHL1, reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "ADP-ribosylhydrolase like 1", "basicGeneticEntity": { "synonyms": [ "ADP-ribosyl-hydrolase", "ADP-ribosylarginine hydrolase like 1", "ADP-ribosylhydrolase 2", "ADP-ribosylhydrolase-like protein 1", "ARH2", "DKFZp451A211", "LOC101928841", "[Protein ADP-ribosylarginine] hydrolase-like protein 1", "collagen alpha-1(II) chain-like", "inactive ADP-ribosyltransferase ARH2", "uncharacterized LOC400169", "uncharacterized protein LOC101928841" ], "secondaryIds": [ "RGD:1313790" ], "genomeLocations": [ { "strand": "-", "endPosition": 113453488, "chromosome": "13", "assembly": "GRCh38", "startPosition": 113399610 } ], "primaryId": "HGNC:21303", "crossReferences": [ { "id": "ENSEMBL:ENSG00000153531" }, { "id": "NCBI_Gene:113622" }, { "id": "PANTHER:PTHR16222" }, { "id": "UniProtKB:Q8NDY3" }, { "pages": [ "gene/references" ], "id": "RGD:1313790" }, { "pages": [ "gene" ], "id": "HGNC:21303" }, { "id": "RGD:1313790" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADPRM", "geneSynopsis": "Predicted to enable 2',3'-cyclic-nucleotide 2'-phosphodiesterase activity; manganese ion binding activity; and pyrophosphatase activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ADP-ribose/CDP-alcohol diphosphatase, manganese dependent", "basicGeneticEntity": { "synonyms": [ "ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent", "ADP-ribose/CDP-alcohol pyrophosphatase", "ADPRibase-Mn", "C17orf48", "CDP-choline phosphohydrolase", "MDS006", "NBLA03831", "manganese-dependent ADP-ribose/CDP-alcohol diphosphatase" ], "secondaryIds": [ "RGD:1604325" ], "genomeLocations": [ { "strand": "+", "endPosition": 10711558, "chromosome": "17", "assembly": "GRCh38", "startPosition": 10697594 } ], "primaryId": "HGNC:30925", "crossReferences": [ { "id": "ENSEMBL:ENSG00000170222" }, { "id": "NCBI_Gene:56985" }, { "id": "PANTHER:PTHR16509" }, { "id": "UniProtKB:Q3LIE5" }, { "pages": [ "gene/references" ], "id": "RGD:1604325" }, { "pages": [ "gene" ], "id": "HGNC:30925" }, { "id": "RGD:1604325" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADPRS", "geneSynopsis": "This gene encodes a member of the ADP-ribosylglycohydrolase family. The encoded enzyme catalyzes the removal of ADP-ribose from ADP-ribosylated proteins. This enzyme localizes to the mitochondria, in addition to the nucleus and cytoplasm.[provided by RefSeq, Feb 2009]", "soTermId": "SO:0001217", "name": "ADP-ribosylserine hydrolase", "basicGeneticEntity": { "synonyms": [ "ADP-ribose glycohydrolase ARH3", "ADP-ribosylarginine hydrolase like 2", "ADP-ribosylhydrolase 3", "ADP-ribosylhydrolase ARH3", "ADP-ribosylhydrolase like 2", "ADPRHL2", "ARH3", "CONDSIAS", "FLJ20446", "O-acetyl-ADP-ribose deacetylase ARH3", "[Protein ADP-ribosylarginine] hydrolase-like protein 2", "[Protein ADP-ribosylserine] hydrolase", "poly(ADP-ribose) glycohydrolase ARH3", "protein ADP-ribosylarginine hydrolase-like protein 2" ], "secondaryIds": [ "RGD:1319201" ], "genomeLocations": [ { "strand": "+", "endPosition": 36093932, "chromosome": "1", "assembly": "GRCh38", "startPosition": 36088878 } ], "primaryId": "HGNC:21304", "crossReferences": [ { "id": "ENSEMBL:ENSG00000116863" }, { "id": "NCBI_Gene:54936" }, { "id": "PANTHER:PTHR16222" }, { "id": "UniProtKB:Q9NX46" }, { "pages": [ "gene/references" ], "id": "RGD:1319201" }, { "pages": [ "gene" ], "id": "HGNC:21304" }, { "id": "RGD:1319201" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADRA1A", "geneSynopsis": "Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1A-adrenergic receptor. Alternative splicing of this gene generates four transcript variants, which encode four different isoforms with distinct C-termini but having similar ligand binding properties. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adrenoceptor alpha 1A", "basicGeneticEntity": { "synonyms": [ "ADRA1C", "ADRA1L1", "ALPHA1AAR", "G protein coupled receptor", "adrenergic receptor, alpha 1a", "adrenergic, alpha -1A-, receptor", "adrenergic, alpha-1A-, receptor", "adrenergic, alpha-1A-, receptor variant 1", "adrenergic, alpha-1A-, receptor variant 11", "adrenergic, alpha-1A-, receptor variant 2", "adrenergic, alpha-1A-, receptor variant 3", "adrenergic, alpha-1A-, receptor variant 4", "adrenergic, alpha-1A-, receptor variant 5", "adrenergic, alpha-1A-, receptor variant 6", "adrenergic, alpha-1A-, receptor variant 8", "adrenergic, alpha-1A-, receptor variant 9", "adrenergic, alpha-1C-, receptor", "alpha-1A adrenergic receptor", "alpha-1A adrenoceptor", "alpha-1A adrenoreceptor", "alpha-1C adrenergic receptor", "alpha-adrenergic receptor 1c" ], "secondaryIds": [ "RGD:736081" ], "genomeLocations": [ { "strand": "-", "endPosition": 26867379, "chromosome": "8", "assembly": "GRCh38", "startPosition": 26748150 } ], "primaryId": "HGNC:277", "crossReferences": [ { "id": "ENSEMBL:ENSG00000120907" }, { "id": "NCBI_Gene:148" }, { "id": "PANTHER:PTHR24248" }, { "id": "UniProtKB:P35348" }, { "pages": [ "gene/references" ], "id": "RGD:736081" }, { "pages": [ "gene" ], "id": "HGNC:277" }, { "id": "RGD:736081" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADRA1B", "geneSynopsis": "Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1B-adrenergic receptor, which induces neoplastic transformation when transfected into NIH 3T3 fibroblasts and other cell lines. Thus, this normal cellular gene is identified as a protooncogene. This gene comprises 2 exons and a single large intron of at least 20 kb that interrupts the coding region. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adrenoceptor alpha 1B", "basicGeneticEntity": { "synonyms": [ "ADRA1", "ALPHA1BAR", "LOC105377689", "adrenergic, alpha-1B-, receptor", "alpha-1B adrenergic receptor", "alpha-1B adrenoceptor", "alpha-1B adrenoreceptor", "alpha-1B-adrenergic receptor", "uncharacterized LOC105377689" ], "secondaryIds": [ "RGD:733119" ], "genomeLocations": [ { "strand": "+", "endPosition": 159989205, "chromosome": "5", "assembly": "GRCh38", "startPosition": 159865080 } ], "primaryId": "HGNC:278", "crossReferences": [ { "id": "ENSEMBL:ENSG00000170214" }, { "id": "NCBI_Gene:147" }, { "id": "PANTHER:PTHR24248" }, { "id": "UniProtKB:P35368" }, { "pages": [ "gene/references" ], "id": "RGD:733119" }, { "pages": [ "gene" ], "id": "HGNC:278" }, { "id": "RGD:733119" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADRA1D", "geneSynopsis": "Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1D-adrenergic receptor. Similar to alpha-1B-adrenergic receptor gene, this gene comprises 2 exons and a single intron that interrupts the coding region. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adrenoceptor alpha 1D", "basicGeneticEntity": { "synonyms": [ "ADRA1", "ADRA1A", "ADRA1R", "ALPHA1", "DAR", "adrenergic, alpha -1D-, receptor", "adrenergic, alpha-1A-, receptor", "adrenergic, alpha-1D-, receptor", "alpha-1A adrenergic receptor", "alpha-1D adrenergic receptor", "alpha-1D adrenoceptor", "alpha-1D adrenoreceptor", "alpha-1D-adrenergic receptor", "alpha-adrenergic receptor 1a", "dJ779E11.2" ], "secondaryIds": [ "RGD:734051" ], "genomeLocations": [ { "strand": "-", "endPosition": 4249287, "chromosome": "20", "assembly": "GRCh38", "startPosition": 4220630 } ], "primaryId": "HGNC:280", "crossReferences": [ { "id": "ENSEMBL:ENSG00000171873" }, { "id": "NCBI_Gene:146" }, { "id": "PANTHER:PTHR24248" }, { "id": "UniProtKB:P25100" }, { "pages": [ "gene/references" ], "id": "RGD:734051" }, { "pages": [ "gene" ], "id": "HGNC:280" }, { "id": "RGD:734051" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADRA2A", "geneSynopsis": "Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. The alpha-2-adrenergic receptors are a type of adrenergic receptors (for adrenaline or epinephrine), which inhibit adenylate cyclase. These receptors include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. They are involved in regulating the release of neurotransmitter molecules from sympathetic nerves and from adrenergic neurons in the central nervous system. The sympathetic nervous system regulates cardiovascular function by activating adrenergic receptors in the heart, blood vessels and kidney. Studies in mouse revealed that both the alpha2A and alpha2C receptor subtypes were required for presynaptic transmitter release from the sympathetic nervous system in the heart and from central noradrenergic neurons. The alpha-2-adrenergic receptors are also involved in catecholamine signaling by extracellular regulated protein kinase 1 and 2 (ERK1/2) pathways. A clear association between the alpha-2-adrenergic receptor and disease has not been yet established. [provided by RefSeq, Sep 2019]", "soTermId": "SO:0001217", "name": "adrenoceptor alpha 2A", "basicGeneticEntity": { "synonyms": [ "ADRA2", "ADRA2R", "ADRAR", "ALPHA2AAR", "FPLD8", "ZNF32", "adrenergic receptor, alpha 2a", "adrenergic, alpha-2A-, receptor", "alpha-2 adrenergic receptor subtype C10", "alpha-2-adrenergic receptor, platelet type", "alpha-2A adrenergic receptor", "alpha-2A adrenoceptor", "alpha-2A adrenoreceptor", "alpha-2AAR subtype C10" ], "secondaryIds": [ "RGD:737381" ], "genomeLocations": [ { "strand": "+", "endPosition": 111080907, "chromosome": "10", "assembly": "GRCh38", "startPosition": 111077029 } ], "primaryId": "HGNC:281", "crossReferences": [ { "id": "ENSEMBL:ENSG00000150594" }, { "id": "NCBI_Gene:150" }, { "id": "PANTHER:PTHR24248" }, { "id": "UniProtKB:P08913" }, { "pages": [ "gene/references" ], "id": "RGD:737381" }, { "pages": [ "gene" ], "id": "HGNC:281" }, { "id": "RGD:737381" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADRA2B", "geneSynopsis": "This intronless gene encodes a seven-pass transmembrane protein. This protein is a member of a subfamily of G protein-coupled receptors that regulate neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. [provided by RefSeq, Apr 2014]", "soTermId": "SO:0001217", "name": "adrenoceptor alpha 2B", "basicGeneticEntity": { "synonyms": [ "ADRA2B adrenergic, alpha-2B-, receptor", "ADRA2L1", "ADRA2RL1", "ADRARL1", "ALPHA2BAR", "FAME2", "G-protein coupled receptor", "aadrenergic, alpha-2b-, receptor", "adrenergic receptor alpha 2B", "adrenergic, alpha-2B-, receptor", "alpha-2 adrenergic receptor subtype C2", "alpha-2-adrenergic receptor-like 1", "alpha-2B adrenergic receptor", "alpha-2B adrenoceptor", "alpha-2B adrenoreceptor", "alpha-2B-adrenergic receptor", "alpha-2BAR" ], "secondaryIds": [ "RGD:731080" ], "genomeLocations": [ { "strand": "-", "endPosition": 96116571, "chromosome": "2", "assembly": "GRCh38", "startPosition": 96112876 } ], "primaryId": "HGNC:282", "crossReferences": [ { "id": "ENSEMBL:ENSG00000274286" }, { "id": "NCBI_Gene:151" }, { "id": "PANTHER:PTHR24248" }, { "id": "UniProtKB:P18089" }, { "pages": [ "gene/references" ], "id": "RGD:731080" }, { "pages": [ "gene" ], "id": "HGNC:282" }, { "id": "RGD:731080" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADRA2C", "geneSynopsis": "Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. The mouse studies revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons. The alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes the alpha2C subtype, which contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adrenoceptor alpha 2C", "basicGeneticEntity": { "synonyms": [ "ADRA2L2", "ADRA2RL2", "ADRARL2", "ALPHA2CAR", "adrenergic receptor, alpha 2c", "adrenergic, alpha-2C-, receptor", "alpha-2 adrenergic receptor subtype C4", "alpha-2C adrenergic receptor", "alpha-2C adrenoceptor", "alpha-2C adrenoreceptor", "alpha-2C-adrenergic receptor", "alpha-2CAR", "alpha2-AR-C4" ], "secondaryIds": [ "RGD:737142" ], "genomeLocations": [ { "strand": "+", "endPosition": 3768526, "chromosome": "4", "assembly": "GRCh38", "startPosition": 3766348 } ], "primaryId": "HGNC:283", "crossReferences": [ { "id": "ENSEMBL:ENSG00000184160" }, { "id": "NCBI_Gene:152" }, { "id": "PANTHER:PTHR24248" }, { "id": "UniProtKB:P18825" }, { "pages": [ "gene/references" ], "id": "RGD:737142" }, { "pages": [ "gene" ], "id": "HGNC:283" }, { "id": "RGD:737142" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADRB1", "geneSynopsis": "The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Beta-1 adrenoceptors are predominately located in the heart. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Sep 2019]", "soTermId": "SO:0001217", "name": "adrenoceptor beta 1", "basicGeneticEntity": { "synonyms": [ "ADRB1R", "B1AR", "BETA1AR", "FNSS2", "RHR", "adrenergic receptor, beta 1", "adrenergic, beta-1-, receptor", "beta-1 adrenergic receptor", "beta-1 adrenoceptor", "beta-1 adrenoreceptor" ], "secondaryIds": [ "RGD:731289" ], "genomeLocations": [ { "strand": "+", "endPosition": 114046904, "chromosome": "10", "assembly": "GRCh38", "startPosition": 114043866 } ], "primaryId": "HGNC:285", "crossReferences": [ { "id": "ENSEMBL:ENSG00000043591" }, { "id": "NCBI_Gene:153" }, { "id": "PANTHER:PTHR24248" }, { "id": "UniProtKB:P08588" }, { "pages": [ "gene/references" ], "id": "RGD:731289" }, { "pages": [ "gene" ], "id": "HGNC:285" }, { "id": "RGD:731289" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADRB2", "geneSynopsis": "This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein-coupled receptor. This receptor is also a transcription regulator of the alpha-synuclein gene, and together, both genes are believed to be associated with risk of Parkinson's Disease. This gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity, type 2 diabetes and cardiovascular disease. [provided by RefSeq, Oct 2019]", "soTermId": "SO:0001217", "name": "adrenoceptor beta 2", "basicGeneticEntity": { "synonyms": [ "ADRB2R", "ADRBR", "ARB2", "B2AR", "BAR", "BETA2AR", "adrenergic receptor, beta 2", "adrenergic, beta-2-, receptor, surface", "adrenoceptor beta 2 surface", "adrenoceptor beta 2, surface", "beta-2 adrenergic receptor", "beta-2 adrenoceptor", "beta-2 adrenoreceptor", "catecholamine receptor" ], "secondaryIds": [ "RGD:733595" ], "genomeLocations": [ { "strand": "+", "endPosition": 148828623, "chromosome": "5", "assembly": "GRCh38", "startPosition": 148826611 } ], "primaryId": "HGNC:286", "crossReferences": [ { "id": "ENSEMBL:ENSG00000169252" }, { "id": "NCBI_Gene:154" }, { "id": "PANTHER:PTHR24248" }, { "id": "UniProtKB:P07550" }, { "pages": [ "gene/references" ], "id": "RGD:733595" }, { "pages": [ "gene" ], "id": "HGNC:286" }, { "id": "RGD:733595" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADRB3", "geneSynopsis": "The protein encoded by this gene belongs to the family of beta adrenergic receptors, which mediate catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor is located mainly in the adipose tissue and is involved in the regulation of lipolysis and thermogenesis. Obesity and bodyweight-related disorders are correlated with certain polymorphisms in three subtypes of beta-adrenoceptor, among them, the ADRB3 gene.[provided by RefSeq, Oct 2019]", "soTermId": "SO:0001217", "name": "adrenoceptor beta 3", "basicGeneticEntity": { "synonyms": [ "BETA3AR", "FLJ99960", "adrenergic, beta-3-, receptor", "beta-3 adrenergic receptor", "beta-3 adrenoceptor", "beta-3 adrenoreceptor" ], "secondaryIds": [ "RGD:737467" ], "genomeLocations": [ { "strand": "-", "endPosition": 37966599, "chromosome": "8", "assembly": "GRCh38", "startPosition": 37962990 } ], "primaryId": "HGNC:288", "crossReferences": [ { "id": "ENSEMBL:ENSG00000188778" }, { "id": "NCBI_Gene:155" }, { "id": "PANTHER:PTHR24248" }, { "id": "UniProtKB:P13945" }, { "pages": [ "gene/references" ], "id": "RGD:737467" }, { "pages": [ "gene" ], "id": "HGNC:288" }, { "id": "RGD:737467" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADRM1", "geneSynopsis": "This gene encodes a member of the adhesion regulating molecule 1 protein family. The encoded protein is a component of the proteasome where it acts as a ubiquitin receptor and recruits the deubiquitinating enzyme, ubiquitin carboxyl-terminal hydrolase L5. Increased levels of the encoded protein are associated with increased cell adhesion, which is likely an indirect effect of this intracellular protein. Dysregulation of this gene has been implicated in carcinogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]", "soTermId": "SO:0001217", "name": "ADRM1 26S proteasome ubiquitin receptor", "basicGeneticEntity": { "synonyms": [ "110 kDa cell membrane glycoprotein", "ARM-1", "ARM1", "GP110", "M(r) 110,000 surface antigen", "MGC29536", "PSMD16", "Rpn13", "adhesion regulating molecule 1", "adhesion-regulating molecule 1", "hRpn13", "proteasomal ubiquitin receptor ADRM1", "proteasome regulatory particle non-ATPase 13", "proteasome ubiquitin receptor", "regulatory particle non-ATPase 13", "rpn13 homolog" ], "secondaryIds": [ "RGD:736707" ], "genomeLocations": [ { "strand": "+", "endPosition": 62308867, "chromosome": "20", "assembly": "GRCh38", "startPosition": 62302066 } ], "primaryId": "HGNC:15759", "crossReferences": [ { "id": "ENSEMBL:ENSG00000130706" }, { "id": "NCBI_Gene:11047" }, { "id": "PANTHER:PTHR12225" }, { "id": "UniProtKB:Q16186" }, { "pages": [ "gene/references" ], "id": "RGD:736707" }, { "pages": [ "gene" ], "id": "HGNC:15759" }, { "id": "RGD:736707" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADSL", "geneSynopsis": "The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]", "soTermId": "SO:0001217", "name": "adenylosuccinate lyase", "basicGeneticEntity": { "synonyms": [ "AMPS", "ASASE", "ASL", "adenylosuccinase" ], "secondaryIds": [ "RGD:1316916" ], "genomeLocations": [ { "strand": "+", "endPosition": 40390463, "chromosome": "22", "assembly": "GRCh38", "startPosition": 40346461 } ], "primaryId": "HGNC:291", "crossReferences": [ { "id": "ENSEMBL:ENSG00000239900" }, { "id": "NCBI_Gene:158" }, { "id": "PANTHER:PTHR43172" }, { "id": "UniProtKB:P30566" }, { "pages": [ "gene/references" ], "id": "RGD:1316916" }, { "pages": [ "gene" ], "id": "HGNC:291" }, { "id": "RGD:1316916" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADSS1", "geneSynopsis": "This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]", "soTermId": "SO:0001217", "name": "adenylosuccinate synthase 1", "basicGeneticEntity": { "synonyms": [ "ADSSL1", "AMPSase 1", "FLJ38602", "IMP--aspartate ligase 1", "M-type adenylosuccinate synthetase", "MPD5", "adSS 1", "adenylosuccinate synthase like 1", "adenylosuccinate synthetase isozyme 1", "adenylosuccinate synthetase, basic isozyme", "adenylosuccinate synthetase, muscle isozyme", "adenylosuccinate synthetase-like 1" ], "secondaryIds": [ "RGD:1351020" ], "genomeLocations": [ { "strand": "+", "endPosition": 104747325, "chromosome": "14", "assembly": "GRCh38", "startPosition": 104724174 } ], "primaryId": "HGNC:20093", "crossReferences": [ { "id": "ENSEMBL:ENSG00000185100" }, { "id": "NCBI_Gene:122622" }, { "id": "PANTHER:PTHR11846" }, { "id": "UniProtKB:Q8N142" }, { "pages": [ "gene/references" ], "id": "RGD:1351020" }, { "pages": [ "gene" ], "id": "HGNC:20093" }, { "id": "RGD:1351020" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADSS2", "geneSynopsis": "This gene encodes the enzyme adenylosuccinate synthetase which catalyzes the first committed step in the conversion of inosine monophosphate to adenosine monophosphate. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Nov 2010]", "soTermId": "SO:0001217", "name": "adenylosuccinate synthase 2", "basicGeneticEntity": { "synonyms": [ "ADEH", "ADSS", "ADSS 2", "AMPSase 2", "IMP--aspartate ligase 2", "L-type adenylosuccinate synthetase", "MGC20404", "adenylosuccinate synthase", "adenylosuccinate synthetase (Ade(-)H-complementing)", "adenylosuccinate synthetase isozyme 2", "adenylosuccinate synthetase, acidic isozyme", "adenylosuccinate synthetase, liver isozyme" ], "secondaryIds": [ "RGD:1321450" ], "genomeLocations": [ { "strand": "-", "endPosition": 244452060, "chromosome": "1", "assembly": "GRCh38", "startPosition": 244408494 } ], "primaryId": "HGNC:292", "crossReferences": [ { "id": "ENSEMBL:ENSG00000035687" }, { "id": "NCBI_Gene:159" }, { "id": "PANTHER:PTHR11846" }, { "id": "UniProtKB:P30520" }, { "pages": [ "gene/references" ], "id": "RGD:1321450" }, { "pages": [ "gene" ], "id": "HGNC:292" }, { "id": "RGD:1321450" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ADTRP", "geneSynopsis": "Enables hydrolase activity. Involved in several processes, including cell migration involved in sprouting angiogenesis; cellular response to oxidised low-density lipoprotein particle stimulus; and negative regulation of secretion by cell. Located in caveola and cell surface. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "androgen dependent TFPI regulating protein", "basicGeneticEntity": { "synonyms": [ "AIG1L", "C6orf105", "FAHFA hydrolase ADTRP", "MGC12335", "RP3-413H6.1", "androgen-dependent TPF1-regulating protein", "androgen-induced 1-like", "dJ413H6.1", "fatty acid esters of hydroxy fatty acids hydrolase ADTRP", "hypothetical protein LOC84830" ], "secondaryIds": [ "RGD:1313849" ], "genomeLocations": [ { "strand": "-", "endPosition": 11807046, "chromosome": "6", "assembly": "GRCh38", "startPosition": 11712054 } ], "primaryId": "HGNC:21214", "crossReferences": [ { "id": "ENSEMBL:ENSG00000111863" }, { "id": "NCBI_Gene:84830" }, { "id": "PANTHER:PTHR10989" }, { "id": "UniProtKB:Q96IZ2" }, { "pages": [ "gene/references" ], "id": "RGD:1313849" }, { "pages": [ "gene" ], "id": "HGNC:21214" }, { "id": "RGD:1313849" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AEBP1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "AE binding protein 1", "basicGeneticEntity": { "synonyms": [ "ACLP", "AE-binding protein 1", "FLJ33612", "adipocyte enhancer binding protein 1", "adipocyte enhancer-binding protein 1", "aortic carboxypeptidase-like protein" ], "secondaryIds": [ "RGD:1315812" ], "genomeLocations": [ { "strand": "+", "endPosition": 44114565, "chromosome": "7", "assembly": "GRCh38", "startPosition": 44104295 } ], "primaryId": "HGNC:303", "crossReferences": [ { "id": "ENSEMBL:ENSG00000106624" }, { "id": "NCBI_Gene:165" }, { "id": "PANTHER:PTHR11532" }, { "id": "UniProtKB:Q8IUX7" }, { "pages": [ "gene/references" ], "id": "RGD:1315812" }, { "pages": [ "gene" ], "id": "HGNC:303" }, { "id": "RGD:1315812" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AEBP2", "geneSynopsis": "Predicted to enable DNA binding activity; transcription coregulator activity; and zinc ion binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of DNA-templated transcription. Located in nucleoplasm. Part of ESC/E(Z) complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "AE binding protein 2", "basicGeneticEntity": { "synonyms": [ "AE(adipocyte enhancer)-binding protein 2", "AE-binding protein 2", "MGC17922", "adipocyte enhancer-binding protein 2", "zinc finger protein AEBP2" ], "secondaryIds": [ "RGD:1316303" ], "genomeLocations": [ { "strand": "+", "endPosition": 19720801, "chromosome": "12", "assembly": "GRCh38", "startPosition": 19404045 } ], "primaryId": "HGNC:24051", "crossReferences": [ { "id": "ENSEMBL:ENSG00000139154" }, { "id": "NCBI_Gene:121536" }, { "id": "PANTHER:PTHR46541" }, { "id": "UniProtKB:Q6ZN18" }, { "pages": [ "gene/references" ], "id": "RGD:1316303" }, { "pages": [ "gene" ], "id": "HGNC:24051" }, { "id": "RGD:1316303" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AEN", "geneSynopsis": "Enables DNA exonuclease activity. Involved in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator and response to ionizing radiation. Located in nuclear membrane; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "apoptosis enhancing nuclease", "basicGeneticEntity": { "synonyms": [ "FLJ12484", "FLJ12562", "ISG20L1", "apoptosis-enhancing nuclease", "interferon stimulated exonuclease gene 20kDa-like 1", "interferon-stimulated 20 kDa exonuclease-like 1", "pp12744" ], "secondaryIds": [ "RGD:1601976" ], "genomeLocations": [ { "strand": "+", "endPosition": 88632281, "chromosome": "15", "assembly": "GRCh38", "startPosition": 88604683 } ], "primaryId": "HGNC:25722", "crossReferences": [ { "id": "ENSEMBL:ENSG00000181026" }, { "id": "NCBI_Gene:64782" }, { "id": "PANTHER:PTHR12801" }, { "id": "UniProtKB:Q8WTP8" }, { "pages": [ "gene/references" ], "id": "RGD:1601976" }, { "pages": [ "gene" ], "id": "HGNC:25722" }, { "id": "RGD:1601976" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFAP1", "geneSynopsis": "The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]", "soTermId": "SO:0001217", "name": "actin filament associated protein 1", "basicGeneticEntity": { "synonyms": [ "110 kDa actin filament-associated protein", "AFAP", "AFAP-110", "AFAP110", "FLJ56849", "actin filament-associated protein 1", "actin filament-associated protein, 110 kDa" ], "secondaryIds": [ "RGD:1605642" ], "genomeLocations": [ { "strand": "-", "endPosition": 7939926, "chromosome": "4", "assembly": "GRCh38", "startPosition": 7758713 } ], "primaryId": "HGNC:24017", "crossReferences": [ { "id": "ENSEMBL:ENSG00000196526" }, { "id": "NCBI_Gene:60312" }, { "id": "PANTHER:PTHR14338" }, { "id": "UniProtKB:Q8N556" }, { "pages": [ "gene/references" ], "id": "RGD:1605642" }, { "pages": [ "gene" ], "id": "HGNC:24017" }, { "id": "RGD:1605642" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFAP1-AS1", "geneSynopsis": "This gene produces a long non-coding RNA that is overexpressed in tumor cells and may promote cancer cell metastasis. [provided by RefSeq, Dec 2017]", "soTermId": "SO:0001263", "name": "AFAP1 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AFAP1-AS", "AFAP1AS", "ATMLP" ], "secondaryIds": [ "RGD:4107292" ], "genomeLocations": [ { "strand": "+", "endPosition": 7778928, "chromosome": "4", "assembly": "GRCh38", "startPosition": 7754077 } ], "primaryId": "HGNC:28141", "crossReferences": [ { "id": "ENSEMBL:ENSG00000272620" }, { "id": "NCBI_Gene:84740" }, { "pages": [ "gene/references" ], "id": "RGD:4107292" }, { "pages": [ "gene" ], "id": "HGNC:28141" }, { "id": "RGD:4107292" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFAP1-AS2", "soTermId": "SO:0001263", "name": "AFAP1 antisense RNA 2", "basicGeneticEntity": { "synonyms": [ "AC112254.1", "LOC124900656", "novel transcript, antisense to AFAP1", "uncharacterized LOC124900656" ], "secondaryIds": [ "RGD:16572256" ], "genomeLocations": [ { "strand": "+", "endPosition": 7808053, "chromosome": "4", "assembly": "GRCh38", "startPosition": 7798527 } ], "primaryId": "HGNC:58726", "crossReferences": [ { "id": "ENSEMBL:ENSG00000287164" }, { "id": "NCBI_Gene:124900656" }, { "pages": [ "gene/references" ], "id": "RGD:16572256" }, { "pages": [ "gene" ], "id": "HGNC:58726" }, { "id": "RGD:16572256" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFAP1L1", "geneSynopsis": "Predicted to be located in several cellular components, including actin cytoskeleton; anchoring junction; and cell projection. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "actin filament associated protein 1 like 1", "basicGeneticEntity": { "synonyms": [ "AFAP1-like protein 1", "FLJ36748", "MGC149773", "actin filament associated protein 1-like 1", "actin filament-associated protein 1-like 1" ], "secondaryIds": [ "RGD:1606158" ], "genomeLocations": [ { "strand": "+", "endPosition": 149343637, "chromosome": "5", "assembly": "GRCh38", "startPosition": 149271823 } ], "primaryId": "HGNC:26714", "crossReferences": [ { "id": "ENSEMBL:ENSG00000157510" }, { "id": "NCBI_Gene:134265" }, { "id": "PANTHER:PTHR14338" }, { "id": "UniProtKB:Q8TED9" }, { "pages": [ "gene/references" ], "id": "RGD:1606158" }, { "pages": [ "gene" ], "id": "HGNC:26714" }, { "id": "RGD:1606158" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFAP1L2", "geneSynopsis": "Enables SH2 domain binding activity; SH3 domain binding activity; and protein tyrosine kinase activator activity. Involved in several processes, including positive regulation of epidermal growth factor receptor signaling pathway; regulation of gene expression; and regulation of mitotic cell cycle. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "actin filament associated protein 1 like 2", "basicGeneticEntity": { "synonyms": [ "AFAP1-like protein 2", "CTB-1144G6.4", "CTB-1144G6.6", "FLJ14564", "KIAA1914", "XB130", "actin filament associated protein 1-like 2", "actin filament-associated protein 1-like 2" ], "secondaryIds": [ "RGD:1321706" ], "genomeLocations": [ { "strand": "-", "endPosition": 114405175, "chromosome": "10", "assembly": "GRCh38", "startPosition": 114280725 } ], "primaryId": "HGNC:25901", "crossReferences": [ { "id": "ENSEMBL:ENSG00000169129" }, { "id": "NCBI_Gene:84632" }, { "id": "PANTHER:PTHR14338" }, { "id": "UniProtKB:Q8N4X5" }, { "pages": [ "gene/references" ], "id": "RGD:1321706" }, { "pages": [ "gene" ], "id": "HGNC:25901" }, { "id": "RGD:1321706" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFDN", "geneSynopsis": "This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011]", "soTermId": "SO:0001217", "name": "afadin, adherens junction formation factor", "basicGeneticEntity": { "synonyms": [ "AF-6", "AF6", "ALL1-fused gene from chromosome 6 protein", "FLJ34371", "LOC107986673", "MLL-AF6", "MLLT4", "RP3-431P23.3", "afadin", "l-afadin", "myeloid/lymphoid or mixed-lineage leukemia", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)", "translocated to, 4", "uncharacterized LOC107986673" ], "secondaryIds": [ "RGD:731514" ], "genomeLocations": [ { "strand": "+", "endPosition": 167972023, "chromosome": "6", "assembly": "GRCh38", "startPosition": 167826564 } ], "primaryId": "HGNC:7137", "crossReferences": [ { "id": "ENSEMBL:ENSG00000130396" }, { "id": "NCBI_Gene:4301" }, { "id": "PANTHER:PTHR10398" }, { "id": "UniProtKB:P55196" }, { "pages": [ "gene/references" ], "id": "RGD:731514" }, { "pages": [ "gene" ], "id": "HGNC:7137" }, { "id": "RGD:731514" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFDN-DT", "geneSynopsis": "INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; antirheumatic drug", "soTermId": "SO:0001263", "name": "AFDN divergent transcript", "basicGeneticEntity": { "synonyms": [ "AFDN antisense RNA 1 (head to head)", "AFDN-AS1", "C6orf124", "HGC6.4", "LINC01558", "MLLT4 antisense RNA 1 (head to head)", "MLLT4-AS1", "XBP1SBM", "dJ431P23.3" ], "secondaryIds": [ "RGD:1352975" ], "genomeLocations": [ { "strand": "-", "endPosition": 167826833, "chromosome": "6", "assembly": "GRCh38", "startPosition": 167822103 } ], "primaryId": "HGNC:21236", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198221" }, { "id": "NCBI_Gene:653483" }, { "pages": [ "gene/references" ], "id": "RGD:1352975" }, { "pages": [ "gene" ], "id": "HGNC:21236" }, { "id": "RGD:1352975" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFF1", "geneSynopsis": "This gene encodes a member of the AF4/ lymphoid nuclear protein related to the Fragile X E syndrome (FRAXE) family of proteins, which have been implicated in human childhood lymphoblastic leukemia, fragile chromosome X intellectual disability, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]", "soTermId": "SO:0001217", "name": "ALF transcription elongation factor 1", "basicGeneticEntity": { "synonyms": [ "AF-4", "AF4", "AF4-MLL", "AF4/FMR2 family member 1", "AF4/FMR2 family, member 1", "ALL1-fused gene from chromosome 4 protein", "FEL", "MGC134969", "MLL/AF4", "MLLT2", "PBM1", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila), translocated to, 2", "pre-B-cell monocytic leukemia partner 1", "proto-oncogene AF4", "translocated to, 2" ], "secondaryIds": [ "RGD:1317426" ], "genomeLocations": [ { "strand": "+", "endPosition": 87141073, "chromosome": "4", "assembly": "GRCh38", "startPosition": 86934237 } ], "primaryId": "HGNC:7135", "crossReferences": [ { "id": "ENSEMBL:ENSG00000172493" }, { "id": "NCBI_Gene:4299" }, { "id": "PANTHER:PTHR10528" }, { "id": "UniProtKB:P51825" }, { "pages": [ "gene/references" ], "id": "RGD:1317426" }, { "pages": [ "gene" ], "id": "HGNC:7135" }, { "id": "RGD:1317426" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFF1-AS1", "geneSynopsis": "INTERACTS WITH fipronil; N,N-diethyl-m-toluamide; sunitinib", "soTermId": "SO:0001263", "name": "AFF1 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:12879532" ], "genomeLocations": [ { "strand": "-", "endPosition": 86934850, "chromosome": "4", "assembly": "GRCh38", "startPosition": 86924894 } ], "primaryId": "HGNC:53447", "crossReferences": [ { "id": "NCBI_Gene:100506746" }, { "pages": [ "gene/references" ], "id": "RGD:12879532" }, { "pages": [ "gene" ], "id": "HGNC:53447" }, { "id": "RGD:12879532" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFF2", "geneSynopsis": "This gene encodes a putative transcriptional activator that is a member of the AF4\\FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked cognitive disability. In addition, this gene contains 6-25 GCC repeats that are expanded to >200 repeats in the disease state. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jul 2016]", "soTermId": "SO:0001217", "name": "ALF transcription elongation factor 2", "basicGeneticEntity": { "synonyms": [ "AF4/FMR2 family member 2", "AF4/FMR2 family, member 2", "FMR2", "FMR2P", "FRAXE", "MRX2", "OX19", "XLID109", "fragile X E mental retardation syndrome protein", "fragile X mental retardation 2 protein", "fragile site, folic acid type, rare, fra(X)(q28)", "protein FMR-2" ], "secondaryIds": [ "RGD:1343236" ], "genomeLocations": [ { "strand": "+", "endPosition": 149000663, "chromosome": "X", "assembly": "GRCh38", "startPosition": 148500617 } ], "primaryId": "HGNC:3776", "crossReferences": [ { "id": "ENSEMBL:ENSG00000155966" }, { "id": "NCBI_Gene:2334" }, { "id": "PANTHER:PTHR10528" }, { "id": "UniProtKB:P51816" }, { "pages": [ "gene/references" ], "id": "RGD:1343236" }, { "pages": [ "gene" ], "id": "HGNC:3776" }, { "id": "RGD:1343236" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFF2-IT1", "soTermId": "SO:0001263", "name": "AFF2 intronic transcript 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481098" ], "genomeLocations": [ { "strand": "+", "endPosition": 148547397, "chromosome": "X", "assembly": "GRCh38", "startPosition": 148546878 } ], "primaryId": "HGNC:41334", "crossReferences": [ { "id": "ENSEMBL:ENSG00000223516" }, { "id": "NCBI_Gene:100874269" }, { "pages": [ "gene/references" ], "id": "RGD:6481098" }, { "pages": [ "gene" ], "id": "HGNC:41334" }, { "id": "RGD:6481098" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFF3", "geneSynopsis": "This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ALF transcription elongation factor 3", "basicGeneticEntity": { "synonyms": [ "AF4/FMR2 family member 3", "AF4/FMR2 family, member 3", "KINS", "LAF4", "MLLT2-like", "MLLT2-related protein", "lymphoid nuclear protein 4", "lymphoid nuclear protein related to AF4", "protein LAF-4" ], "secondaryIds": [ "RGD:1318349" ], "genomeLocations": [ { "strand": "-", "endPosition": 100192428, "chromosome": "2", "assembly": "GRCh38", "startPosition": 99545419 } ], "primaryId": "HGNC:6473", "crossReferences": [ { "id": "ENSEMBL:ENSG00000144218" }, { "id": "NCBI_Gene:3899" }, { "id": "PANTHER:PTHR10528" }, { "id": "UniProtKB:P51826" }, { "pages": [ "gene/references" ], "id": "RGD:1318349" }, { "pages": [ "gene" ], "id": "HGNC:6473" }, { "id": "RGD:1318349" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFF4", "geneSynopsis": "The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]", "soTermId": "SO:0001217", "name": "ALF transcription elongation factor 4", "basicGeneticEntity": { "synonyms": [ "AF4/FMR2 family member 4", "AF4/FMR2 family, member 4", "AF5Q31", "ALL1 fused gene from 5q31", "ALL1-fused gene from chromosome 5q31 protein", "CHOPS", "MCEF", "MGC75036", "major CDK9 elongation factor-associated protein" ], "secondaryIds": [ "RGD:1601873" ], "genomeLocations": [ { "strand": "-", "endPosition": 132963634, "chromosome": "5", "assembly": "GRCh38", "startPosition": 132875395 } ], "primaryId": "HGNC:17869", "crossReferences": [ { "id": "ENSEMBL:ENSG00000072364" }, { "id": "NCBI_Gene:27125" }, { "id": "PANTHER:PTHR10528" }, { "id": "UniProtKB:Q9UHB7" }, { "pages": [ "gene/references" ], "id": "RGD:1601873" }, { "pages": [ "gene" ], "id": "HGNC:17869" }, { "id": "RGD:1601873" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFF4-DT", "soTermId": "SO:0001263", "name": "AFF4 divergent transcript", "basicGeneticEntity": { "synonyms": [ "LOC124901065", "uncharacterized LOC124901065" ], "secondaryIds": [ "RGD:151669391" ], "genomeLocations": [ { "strand": "+", "endPosition": 133023913, "chromosome": "5", "assembly": "GRCh38", "startPosition": 132963730 } ], "primaryId": "HGNC:55235", "crossReferences": [ { "id": "ENSEMBL:ENSG00000272023" }, { "id": "NCBI_Gene:124901065" }, { "pages": [ "gene/references" ], "id": "RGD:151669391" }, { "pages": [ "gene" ], "id": "HGNC:55235" }, { "id": "RGD:151669391" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFF4P1", "soTermId": "SO:0000336", "name": "AFF4 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:155782934" ], "primaryId": "HGNC:56526", "crossReferences": [ { "id": "NCBI_Gene:127460875" }, { "pages": [ "gene/references" ], "id": "RGD:155782934" }, { "pages": [ "gene" ], "id": "HGNC:56526" }, { "id": "RGD:155782934" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFG1L", "geneSynopsis": "This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the degradation of nuclear-encoded complex IV subunits. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]", "soTermId": "SO:0001217", "name": "AFG1 like ATPase", "basicGeneticEntity": { "synonyms": [ "AFG1", "AFG1-like ATPase", "ATPase family gene 1 homolog", "CG8520 gene product", "LACE1", "c222389", "lactation elevated 1", "lactation elevated protein 1", "protein AFG1 homolog" ], "secondaryIds": [ "RGD:1349497" ], "genomeLocations": [ { "strand": "+", "endPosition": 108526796, "chromosome": "6", "assembly": "GRCh38", "startPosition": 108294926 } ], "primaryId": "HGNC:16411", "crossReferences": [ { "id": "ENSEMBL:ENSG00000135537" }, { "id": "NCBI_Gene:246269" }, { "id": "PANTHER:PTHR12169" }, { "id": "UniProtKB:Q8WV93" }, { "pages": [ "gene/references" ], "id": "RGD:1349497" }, { "pages": [ "gene" ], "id": "HGNC:16411" }, { "id": "RGD:1349497" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFG2A", "geneSynopsis": "This gene encodes a member of the ATPase associated with diverse activities family, whose members are defined by a highly conserved ATPase domain. Members of this family participate in diverse cellular processes that include membrane fusion, DNA replication, microtubule severing, and protein degradation. The protein encoded by this gene has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Allelic variants in this gene have been associated with epilepsy, hearing loss, and cognitive disability syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]", "soTermId": "SO:0001217", "name": "AAA ATPase AFG2A", "basicGeneticEntity": { "synonyms": [ "AFG2", "AFG2 AAA ATPase homolog A", "ATPase family gene 2 homolog", "ATPase family gene 2 protein homolog A", "ATPase family protein 2 homolog", "EHLMRS", "NEDHSB", "SPAF", "SPATA5", "ribosome biogenesis protein SPATA5", "spermatogenesis associated 5", "spermatogenesis associated factor SPAF", "spermatogenesis-associated factor protein", "spermatogenesis-associated protein 5" ], "secondaryIds": [ "RGD:1321404" ], "genomeLocations": [ { "strand": "+", "endPosition": 123319433, "chromosome": "4", "assembly": "GRCh38", "startPosition": 122923070 } ], "primaryId": "HGNC:18119", "crossReferences": [ { "id": "ENSEMBL:ENSG00000145375" }, { "id": "NCBI_Gene:166378" }, { "id": "PANTHER:PTHR23077" }, { "id": "UniProtKB:Q8NB90" }, { "pages": [ "gene/references" ], "id": "RGD:1321404" }, { "pages": [ "gene" ], "id": "HGNC:18119" }, { "id": "RGD:1321404" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFG2B", "geneSynopsis": "Enables identical protein binding activity and preribosome binding activity. Involved in ribosomal large subunit biogenesis. Located in cytoplasm and spindle. Implicated in autosomal recessive nonsyndromic deafness. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "AAA ATPase AFG2B", "basicGeneticEntity": { "synonyms": [ "AFG2 AAA ATPase homolog B", "ATPase family gene 2 protein homolog B", "DFNB119", "FLJ12286", "MGC5347", "NEDHLS", "SPATA5L1", "ribosome biogenesis protein SPATA5L1", "spermatogenesis associated 5 like 1", "spermatogenesis associated 5-like 1", "spermatogenesis-associated protein 5-like protein 1" ], "secondaryIds": [ "RGD:1317463" ], "genomeLocations": [ { "strand": "+", "endPosition": 45421415, "chromosome": "15", "assembly": "GRCh38", "startPosition": 45402336 } ], "primaryId": "HGNC:28762", "crossReferences": [ { "id": "ENSEMBL:ENSG00000171763" }, { "id": "NCBI_Gene:79029" }, { "id": "PANTHER:PTHR23077" }, { "id": "UniProtKB:Q9BVQ7" }, { "pages": [ "gene/references" ], "id": "RGD:1317463" }, { "pages": [ "gene" ], "id": "HGNC:28762" }, { "id": "RGD:1317463" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFG3L1P", "geneSynopsis": "Predicted to be involved in protein processing. Predicted to act upstream of or within cristae formation; mitochondrial fusion; and mitochondrial protein processing. Predicted to be located in mitochondrial inner membrane. Predicted to be part of m-AAA complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0000336", "name": "AFG3 like matrix AAA peptidase subunit 1, pseudogene", "basicGeneticEntity": { "synonyms": [ "AFG3", "AFG3L1", "FLJ45200", "afg3 atpase family gene 3-like 1 (yeast)" ], "secondaryIds": [ "RGD:1345129" ], "genomeLocations": [ { "strand": "+", "endPosition": 90002161, "chromosome": "16", "assembly": "GRCh38", "startPosition": 89972580 } ], "primaryId": "HGNC:314", "crossReferences": [ { "id": "ENSEMBL:ENSG00000293510" }, { "id": "ENSEMBL:ENSG00000223959" }, { "id": "NCBI_Gene:172" }, { "pages": [ "gene/references" ], "id": "RGD:1345129" }, { "pages": [ "gene" ], "id": "HGNC:314" }, { "id": "RGD:1345129" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFG3L2", "geneSynopsis": "This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "AFG3 like matrix AAA peptidase subunit 2", "basicGeneticEntity": { "synonyms": [ "AFG3 (ATPase family gene 3, yeast)-like 2", "AFG3 ATPase family gene 3-like 2", "AFG3 ATPase family member 3-like 2", "AFG3 like AAA ATPase 2", "AFG3-like AAA ATPase 2", "AFG3-like protein 2", "ATPase family gene 3, yeast", "ATPase family gene 3-like 2", "FLJ25993", "OPA12", "SCA28", "SPAX5", "mitochondrial inner membrane m-AAA protease component AFG3L2", "paraplegin-like protein", "spinocerebellar ataxia 28" ], "secondaryIds": [ "RGD:1313183" ], "genomeLocations": [ { "strand": "-", "endPosition": 12377473, "chromosome": "18", "assembly": "GRCh38", "startPosition": 12328932 } ], "primaryId": "HGNC:315", "crossReferences": [ { "id": "ENSEMBL:ENSG00000141385" }, { "id": "NCBI_Gene:10939" }, { "id": "PANTHER:PTHR43655" }, { "id": "UniProtKB:Q9Y4W6" }, { "pages": [ "gene/references" ], "id": "RGD:1313183" }, { "pages": [ "gene" ], "id": "HGNC:315" }, { "id": "RGD:1313183" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFG3L2P1", "soTermId": "SO:0000336", "name": "AFG3L2 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AFG3 like AAA ATPase 2 pseudogene 1", "AFG3L2P" ], "secondaryIds": [ "RGD:3457950" ], "genomeLocations": [ { "strand": "-", "endPosition": 43272105, "chromosome": "8", "assembly": "GRCh38", "startPosition": 43251413 } ], "primaryId": "HGNC:24169", "crossReferences": [ { "id": "ENSEMBL:ENSG00000253606" }, { "id": "NCBI_Gene:347028" }, { "pages": [ "gene/references" ], "id": "RGD:3457950" }, { "pages": [ "gene" ], "id": "HGNC:24169" }, { "id": "RGD:3457950" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFM", "geneSynopsis": "This gene is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "afamin", "basicGeneticEntity": { "synonyms": [ "ALB2", "ALBA", "ALF", "MGC125338", "MGC125339", "alpha-Alb", "alpha-albumin" ], "secondaryIds": [ "RGD:1352528" ], "genomeLocations": [ { "strand": "+", "endPosition": 73504036, "chromosome": "4", "assembly": "GRCh38", "startPosition": 73481665 } ], "primaryId": "HGNC:316", "crossReferences": [ { "id": "ENSEMBL:ENSG00000079557" }, { "id": "NCBI_Gene:173" }, { "id": "PANTHER:PTHR11385" }, { "id": "UniProtKB:P43652" }, { "pages": [ "gene/references" ], "id": "RGD:1352528" }, { "pages": [ "gene" ], "id": "HGNC:316" }, { "id": "RGD:1352528" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFMID", "geneSynopsis": "Predicted to enable arylformamidase activity. Predicted to be involved in L-tryptophan catabolic process to kynurenine. Predicted to be located in cytosol and nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "arylformamidase", "basicGeneticEntity": { "synonyms": [ "DKFZp686F03259", "FKF", "KF", "KFA", "KFase", "MGC167063", "N-formylkynurenine formamidase", "kynurenine formamidase", "probable arylformamidase" ], "secondaryIds": [ "RGD:1606470" ], "genomeLocations": [ { "strand": "+", "endPosition": 78207703, "chromosome": "17", "assembly": "GRCh38", "startPosition": 78187330 } ], "primaryId": "HGNC:20910", "crossReferences": [ { "id": "ENSEMBL:ENSG00000183077" }, { "id": "NCBI_Gene:125061" }, { "id": "PANTHER:PTHR48081" }, { "id": "UniProtKB:Q63HM1" }, { "pages": [ "gene/references" ], "id": "RGD:1606470" }, { "pages": [ "gene" ], "id": "HGNC:20910" }, { "id": "RGD:1606470" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFP", "geneSynopsis": "This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatocarcinoma and with teratoma, and has prognostic value for managing advanced gastric cancer. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq, Oct 2019]", "soTermId": "SO:0001217", "name": "alpha fetoprotein", "basicGeneticEntity": { "synonyms": [ "AFPD", "FETA", "HPAFP", "alpha-1-fetoprotein", "alpha-fetoglobulin", "alpha-fetoprotein", "fetoglobulin" ], "secondaryIds": [ "RGD:736278" ], "genomeLocations": [ { "strand": "+", "endPosition": 73456174, "chromosome": "4", "assembly": "GRCh38", "startPosition": 73431138 } ], "primaryId": "HGNC:317", "crossReferences": [ { "id": "ENSEMBL:ENSG00000081051" }, { "id": "NCBI_Gene:174" }, { "id": "PANTHER:PTHR11385" }, { "id": "UniProtKB:P02771" }, { "pages": [ "gene/references" ], "id": "RGD:736278" }, { "pages": [ "gene" ], "id": "HGNC:317" }, { "id": "RGD:736278" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFTPH", "geneSynopsis": "Enables clathrin binding activity. Predicted to be involved in intracellular transport. Located in Golgi apparatus; cytosol; and nucleoplasm. Part of AP-1 adaptor complex. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "aftiphilin", "basicGeneticEntity": { "synonyms": [ "FLJ20080", "FLJ23793", "MGC33965", "Nbla10388", "aftiphilin protein", "putative protein product of Nbla10388" ], "secondaryIds": [ "RGD:1606558" ], "genomeLocations": [ { "strand": "+", "endPosition": 64593007, "chromosome": "2", "assembly": "GRCh38", "startPosition": 64524289 } ], "primaryId": "HGNC:25951", "crossReferences": [ { "id": "ENSEMBL:ENSG00000119844" }, { "id": "NCBI_Gene:54812" }, { "id": "PANTHER:PTHR16156" }, { "id": "UniProtKB:Q6ULP2" }, { "pages": [ "gene/references" ], "id": "RGD:1606558" }, { "pages": [ "gene" ], "id": "HGNC:25951" }, { "id": "RGD:1606558" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AFTPH-DT", "geneSynopsis": "INTERACTS WITH acrylamide; sodium arsenite", "soTermId": "SO:0001263", "name": "AFTPH divergent transcript", "basicGeneticEntity": { "synonyms": [ "AC008074.2", "LOC101927402", "uncharacterized LOC101927402" ], "secondaryIds": [ "RGD:16562576" ], "genomeLocations": [ { "strand": "-", "endPosition": 64524789, "chromosome": "2", "assembly": "GRCh38", "startPosition": 64522187 } ], "primaryId": "HGNC:52788", "crossReferences": [ { "id": "ENSEMBL:ENSG00000260101" }, { "id": "NCBI_Gene:101927402" }, { "pages": [ "gene/references" ], "id": "RGD:16562576" }, { "pages": [ "gene" ], "id": "HGNC:52788" }, { "id": "RGD:16562576" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGA", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "aspartylglucosaminidase", "basicGeneticEntity": { "synonyms": [ "AGU", "ASRG", "GA", "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase", "N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase", "aspartylglucosylamine deaspartylase", "glycosylasparaginase" ], "secondaryIds": [ "RGD:1320096" ], "genomeLocations": [ { "strand": "-", "endPosition": 177442444, "chromosome": "4", "assembly": "GRCh38", "startPosition": 177430774 } ], "primaryId": "HGNC:318", "crossReferences": [ { "id": "ENSEMBL:ENSG00000038002" }, { "id": "NCBI_Gene:175" }, { "id": "PANTHER:PTHR10188" }, { "id": "UniProtKB:P20933" }, { "pages": [ "gene/references" ], "id": "RGD:1320096" }, { "pages": [ "gene" ], "id": "HGNC:318" }, { "id": "RGD:1320096" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGA-DT", "soTermId": "SO:0001263", "name": "AGA divergent transcript", "basicGeneticEntity": { "synonyms": [ "LOC285500", "uncharacterized LOC285500" ], "secondaryIds": [ "RGD:38623245" ], "genomeLocations": [ { "strand": "+", "endPosition": 177697910, "chromosome": "4", "assembly": "GRCh38", "startPosition": 177442514 } ], "primaryId": "HGNC:27730", "crossReferences": [ { "id": "ENSEMBL:ENSG00000250131" }, { "id": "NCBI_Gene:285500" }, { "pages": [ "gene/references" ], "id": "RGD:38623245" }, { "pages": [ "gene" ], "id": "HGNC:27730" }, { "id": "RGD:38623245" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGAP1", "geneSynopsis": "This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]", "soTermId": "SO:0001217", "name": "ArfGAP with GTPase domain, ankyrin repeat and PH domain 1", "basicGeneticEntity": { "synonyms": [ "AGAP-1", "Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 1", "CENTG2", "GGAP1", "GTP-binding and GTPase-activating protein 1", "KIAA1099", "MGC71657", "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1", "centaurin, gamma 2", "centaurin-gamma-2", "cnt-g2" ], "secondaryIds": [ "RGD:1319477" ], "genomeLocations": [ { "strand": "+", "endPosition": 236131793, "chromosome": "2", "assembly": "GRCh38", "startPosition": 235494043 } ], "primaryId": "HGNC:16922", "crossReferences": [ { "id": "ENSEMBL:ENSG00000157985" }, { "id": "NCBI_Gene:116987" }, { "id": "PANTHER:PTHR45819" }, { "id": "UniProtKB:Q9UPQ3" }, { "pages": [ "gene/references" ], "id": "RGD:1319477" }, { "pages": [ "gene" ], "id": "HGNC:16922" }, { "id": "RGD:1319477" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGAP1-IT1", "geneSynopsis": "INTERACTS WITH rotenone", "soTermId": "SO:0001263", "name": "AGAP1 intronic transcript 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:5132512" ], "genomeLocations": [ { "strand": "+", "endPosition": 235507571, "chromosome": "2", "assembly": "GRCh38", "startPosition": 235505539 } ], "primaryId": "HGNC:41427", "crossReferences": [ { "id": "ENSEMBL:ENSG00000235529" }, { "id": "NCBI_Gene:100506749" }, { "pages": [ "gene/references" ], "id": "RGD:5132512" }, { "pages": [ "gene" ], "id": "HGNC:41427" }, { "id": "RGD:5132512" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGAP10P", "geneSynopsis": "INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; bisphenol A", "soTermId": "SO:0000336", "name": "ArfGAP with GTPase domain, ankyrin repeat and PH domain 10, pseudogene", "basicGeneticEntity": { "synonyms": [ "AGAP10", "ArfGAP with GTPase domain, ankyrin repeat and PH domain 10", "ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 pseudogene", "CTGLF10P", "CTGLF7", "bA144G6.2", "bA358L16.1", "centaurin, gamma-like family, member 7" ], "secondaryIds": [ "RGD:1348672" ], "genomeLocations": [ { "strand": "+", "endPosition": 45700532, "chromosome": "10", "assembly": "GRCh38", "startPosition": 45678516 } ], "primaryId": "HGNC:23659", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230869" }, { "id": "NCBI_Gene:653234" }, { "pages": [ "gene/references" ], "id": "RGD:1348672" }, { "pages": [ "gene" ], "id": "HGNC:23659" }, { "id": "RGD:1348672" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGAP11", "geneSynopsis": "Predicted to enable GTPase activator activity and GTPase activity. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001263", "name": "ArfGAP with GTPase domain, ankyrin repeat and PH domain 11", "basicGeneticEntity": { "synonyms": [ "AGAP-11", "KIAA1975", "ankyrin repeat and GTPase domain Arf GTPase activating protein 11", "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 11" ], "secondaryIds": [ "RGD:2301267" ], "genomeLocations": [ { "strand": "+", "endPosition": 87010226, "chromosome": "10", "assembly": "GRCh38", "startPosition": 86970336 } ], "primaryId": "HGNC:29421", "crossReferences": [ { "id": "ENSEMBL:ENSG00000271880" }, { "id": "ENSEMBL:ENSG00000151303" }, { "id": "NCBI_Gene:119385" }, { "id": "PANTHER:PTHR45819" }, { "id": "UniProtKB:Q8TF27" }, { "pages": [ "gene/references" ], "id": "RGD:2301267" }, { "pages": [ "gene" ], "id": "HGNC:29421" }, { "id": "RGD:2301267" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGAP12P", "geneSynopsis": "INTERACTS WITH copper atom; copper(0); resveratrol", "soTermId": "SO:0000336", "name": "ArfGAP with GTPase domain, ankyrin repeat and PH domain 12, pseudogene", "basicGeneticEntity": { "synonyms": [ "CTGLF12P", "PTPN20CP", "bA164N7.2" ], "secondaryIds": [ "RGD:1350681" ], "genomeLocations": [ { "strand": "-", "endPosition": 48031969, "chromosome": "10", "assembly": "GRCh38", "startPosition": 48006764 } ], "primaryId": "HGNC:23661", "crossReferences": [ { "id": "ENSEMBL:ENSG00000290898" }, { "id": "ENSEMBL:ENSG00000265018" }, { "id": "NCBI_Gene:414224" }, { "pages": [ "gene/references" ], "id": "RGD:1350681" }, { "pages": [ "gene" ], "id": "HGNC:23661" }, { "id": "RGD:1350681" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGAP13P", "soTermId": "SO:0000336", "name": "ArfGAP with GTPase domain, ankyrin repeat and PH domain 13, pseudogene", "basicGeneticEntity": { "synonyms": [ "CTGLF9P", "bA548K23.1" ], "secondaryIds": [ "RGD:1345513" ], "genomeLocations": [ { "strand": "+", "endPosition": 46837947, "chromosome": "10", "assembly": "GRCh38", "startPosition": 46816516 } ], "primaryId": "HGNC:23499", "crossReferences": [ { "id": "ENSEMBL:ENSG00000243289" }, { "id": "NCBI_Gene:728005" }, { "pages": [ "gene/references" ], "id": "RGD:1345513" }, { "pages": [ "gene" ], "id": "HGNC:23499" }, { "id": "RGD:1345513" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGAP14P", "soTermId": "SO:0000336", "name": "ArfGAP with GTPase domain, ankyrin repeat and PH domain 14, pseudogene", "basicGeneticEntity": { "synonyms": [ "AGAP14", "ArfGAP with GTPase domain, ankyrin repeat and PH domain 14", "CTGLF11P", "bA145E20.1" ], "secondaryIds": [ "RGD:1348096" ], "genomeLocations": [ { "strand": "+", "endPosition": 46358714, "chromosome": "10", "assembly": "GRCh38", "startPosition": 46337224 } ], "primaryId": "HGNC:23660", "crossReferences": [ { "id": "ENSEMBL:ENSG00000279058" }, { "id": "NCBI_Gene:653259" }, { "pages": [ "gene/references" ], "id": "RGD:1348096" }, { "pages": [ "gene" ], "id": "HGNC:23660" }, { "id": "RGD:1348096" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGAP2", "geneSynopsis": "The protein encoded by this gene belongs to the centaurin gamma-like family. It mediates anti-apoptotic effects of nerve growth factor by activating nuclear phosphoinositide 3-kinase. It is overexpressed in cancer cells, and promotes cancer cell invasion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]", "soTermId": "SO:0001217", "name": "ArfGAP with GTPase domain, ankyrin repeat and PH domain 2", "basicGeneticEntity": { "synonyms": [ "AGAP-2", "Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 2", "CENTG1", "FLJ16430", "GGAP2", "GTP-binding and GTPase activating protein 2", "GTP-binding and GTPase-activating protein 2", "KIAA0167", "PIKE", "RP11-571M6.8", "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2", "centaurin, gamma 1", "centaurin-gamma-1", "cnt-g1", "phosphatidylinositol 3-kinase enhancer", "phosphatidylinositol-3-kinase enhancer", "phosphoinositide 3-kinase enhancer" ], "secondaryIds": [ "RGD:1349110" ], "genomeLocations": [ { "strand": "-", "endPosition": 57742161, "chromosome": "12", "assembly": "GRCh38", "startPosition": 57723761 } ], "primaryId": "HGNC:16921", "crossReferences": [ { "id": "ENSEMBL:ENSG00000135439" }, { "id": "NCBI_Gene:116986" }, { "id": "PANTHER:PTHR45819" }, { "id": "UniProtKB:Q99490" }, { "pages": [ "gene/references" ], "id": "RGD:1349110" }, { "pages": [ "gene" ], "id": "HGNC:16921" }, { "id": "RGD:1349110" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGAP2-AS1", "geneSynopsis": "Biomarker of lung non-small cell carcinoma; malignant astrocytoma; and stomach cancer. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001263", "name": "AGAP2 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "PUNISHER" ], "secondaryIds": [ "RGD:7244932" ], "genomeLocations": [ { "strand": "+", "endPosition": 57728356, "chromosome": "12", "assembly": "GRCh38", "startPosition": 57726240 } ], "primaryId": "HGNC:48633", "crossReferences": [ { "id": "ENSEMBL:ENSG00000255737" }, { "id": "NCBI_Gene:100130776" }, { "pages": [ "gene/references" ], "id": "RGD:7244932" }, { "pages": [ "gene" ], "id": "HGNC:48633" }, { "id": "RGD:7244932" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGAP3", "geneSynopsis": "This gene encodes an essential component of the N-methyl-D-aspartate (NMDA) receptor signaling complex which mediates long-term potentiation in synapses by linking activation of NMDA receptor to alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor trafficking. The encoded protein contains an N-terminal GTPase-like domain, a pleckstrin homology domain, an ArfGAP domain and several C-terminal ankryn repeat domains. [provided by RefSeq, Apr 2017]", "soTermId": "SO:0001217", "name": "ArfGAP with GTPase domain, ankyrin repeat and PH domain 3", "basicGeneticEntity": { "synonyms": [ "AGAP-3", "CENTG3", "CRAG", "CRAM-associated GTPase", "CRMP (collapsin response mediator protein) associated", "FLJ16146", "FLJ34452", "MR1-interacting protein", "MRIP-1", "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3", "centaurin, gamma 3", "centaurin-gamma-3", "cnt-g3" ], "secondaryIds": [ "RGD:1321839" ], "genomeLocations": [ { "strand": "+", "endPosition": 151144436, "chromosome": "7", "assembly": "GRCh38", "startPosition": 151085831 } ], "primaryId": "HGNC:16923", "crossReferences": [ { "id": "ENSEMBL:ENSG00000133612" }, { "id": "NCBI_Gene:116988" }, { "id": "PANTHER:PTHR45819" }, { "id": "UniProtKB:Q96P47" }, { "pages": [ "gene/references" ], "id": "RGD:1321839" }, { "pages": [ "gene" ], "id": "HGNC:16923" }, { "id": "RGD:1321839" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGAP4", "geneSynopsis": "Predicted to enable GTPase activator activity and GTPase activity. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ArfGAP with GTPase domain, ankyrin repeat and PH domain 4", "basicGeneticEntity": { "synonyms": [ "AGAP-4", "AGAP-8", "AGAP8", "ARF GTPase-activating protein", "ArfGAP with GTPase domain, ankyrin repeat and PH domain 8", "CTGLF1", "CTGLF5", "MRIP2", "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4", "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 8", "centaurin, gamma-like family, member 1", "centaurin, gamma-like family, member 5", "centaurin-gamma-like family member 1", "centaurin-gamma-like family member 5" ], "secondaryIds": [ "RGD:1344826" ], "genomeLocations": [ { "strand": "-", "endPosition": 45854690, "chromosome": "10", "assembly": "GRCh38", "startPosition": 45825594 } ], "primaryId": "HGNC:23459", "crossReferences": [ { "id": "ENSEMBL:ENSG00000188234" }, { "id": "NCBI_Gene:119016" }, { "id": "PANTHER:PTHR45819" }, { "id": "UniProtKB:Q96P64" }, { "pages": [ "gene/references" ], "id": "RGD:1344826" }, { "pages": [ "gene" ], "id": "HGNC:23459" }, { "id": "RGD:1344826" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGAP5", "geneSynopsis": "Predicted to enable GTPase activator activity and GTPase activity. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ArfGAP with GTPase domain, ankyrin repeat and PH domain 5", "basicGeneticEntity": { "synonyms": [ "AGAP-5", "CTGLF2", "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5", "centaurin, gamma-like family, member 2", "centaurin-gamma-like family member 2" ], "secondaryIds": [ "RGD:1348213" ], "genomeLocations": [ { "strand": "-", "endPosition": 73698109, "chromosome": "10", "assembly": "GRCh38", "startPosition": 73674287 } ], "primaryId": "HGNC:23467", "crossReferences": [ { "id": "ENSEMBL:ENSG00000172650" }, { "id": "NCBI_Gene:729092" }, { "id": "PANTHER:PTHR45819" }, { "id": "UniProtKB:A6NIR3" }, { "pages": [ "gene/references" ], "id": "RGD:1348213" }, { "pages": [ "gene" ], "id": "HGNC:23467" }, { "id": "RGD:1348213" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGAP6", "geneSynopsis": "Predicted to enable GTPase activator activity and GTPase activity. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ArfGAP with GTPase domain, ankyrin repeat and PH domain 6", "basicGeneticEntity": { "synonyms": [ "AGAP-6", "CTGLF3", "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 6", "bA324H6.1", "centaurin, gamma-like family, member 3", "centaurin-gamma-like family member 3" ], "secondaryIds": [ "RGD:1349976" ], "genomeLocations": [ { "strand": "+", "endPosition": 50011654, "chromosome": "10", "assembly": "GRCh38", "startPosition": 49982190 } ], "primaryId": "HGNC:23466", "crossReferences": [ { "id": "ENSEMBL:ENSG00000204149" }, { "id": "NCBI_Gene:414189" }, { "id": "PANTHER:PTHR45819" }, { "id": "UniProtKB:Q5VW22" }, { "pages": [ "gene/references" ], "id": "RGD:1349976" }, { "pages": [ "gene" ], "id": "HGNC:23466" }, { "id": "RGD:1349976" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGAP7P", "geneSynopsis": "Predicted to enable GTPase activator activity and GTPase activity. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0000336", "name": "ArfGAP with GTPase domain, ankyrin repeat and PH domain 7, pseudogene", "basicGeneticEntity": { "synonyms": [ "AGAP-7", "AGAP7", "CTGLF4", "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 7", "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 7 pseudogene", "bA109G10.1", "centaurin, gamma-like family, member 4", "centaurin-gamma-like family member 4", "putative Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 7" ], "secondaryIds": [ "RGD:1353426" ], "genomeLocations": [ { "strand": "+", "endPosition": 46131678, "chromosome": "10", "assembly": "GRCh38", "startPosition": 46109495 } ], "primaryId": "HGNC:23465", "crossReferences": [ { "id": "ENSEMBL:ENSG00000299595" }, { "id": "ENSEMBL:ENSG00000264204" }, { "id": "NCBI_Gene:653268" }, { "id": "PANTHER:PTHR45819" }, { "id": "UniProtKB:Q5VUJ5" }, { "pages": [ "gene/references" ], "id": "RGD:1353426" }, { "pages": [ "gene" ], "id": "HGNC:23465" }, { "id": "RGD:1353426" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGAP9", "geneSynopsis": "Predicted to enable GTPase activator activity and GTPase activity. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ArfGAP with GTPase domain, ankyrin repeat and PH domain 9", "basicGeneticEntity": { "synonyms": [ "AGAP-9", "CTGLF6", "FLJ00312", "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 9", "bA301J7.2", "centaurin, gamma-like family, member 6", "centaurin-gamma-like family member 6" ], "secondaryIds": [ "RGD:1348214" ], "genomeLocations": [ { "strand": "-", "endPosition": 47523638, "chromosome": "10", "assembly": "GRCh38", "startPosition": 47501854 } ], "primaryId": "HGNC:23463", "crossReferences": [ { "id": "ENSEMBL:ENSG00000204172" }, { "id": "NCBI_Gene:642517" }, { "id": "PANTHER:PTHR45819" }, { "id": "UniProtKB:Q5VTM2" }, { "pages": [ "gene/references" ], "id": "RGD:1348214" }, { "pages": [ "gene" ], "id": "HGNC:23463" }, { "id": "RGD:1348214" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGBL1", "geneSynopsis": "Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013]", "soTermId": "SO:0001217", "name": "AGBL carboxypeptidase 1", "basicGeneticEntity": { "synonyms": [ "ATP/GTP binding protein like 1", "ATP/GTP binding protein-like 1", "ATP/GTP-binding protein-like 1", "CCP4", "FECD8", "FLJ32310", "MGC149239", "cytosolic carboxypeptidase 4" ], "secondaryIds": [ "RGD:1345768" ], "genomeLocations": [ { "strand": "+", "endPosition": 87049169, "chromosome": "15", "assembly": "GRCh38", "startPosition": 86079620 } ], "primaryId": "HGNC:26504", "crossReferences": [ { "id": "ENSEMBL:ENSG00000273540" }, { "id": "NCBI_Gene:123624" }, { "id": "PANTHER:PTHR12756" }, { "id": "UniProtKB:Q96MI9" }, { "pages": [ "gene/references" ], "id": "RGD:1345768" }, { "pages": [ "gene" ], "id": "HGNC:26504" }, { "id": "RGD:1345768" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGBL1-AS1", "soTermId": "SO:0001263", "name": "AGBL1 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "RP11-31E22.1" ], "secondaryIds": [ "RGD:7244440" ], "genomeLocations": [ { "strand": "-", "endPosition": 86317173, "chromosome": "15", "assembly": "GRCh38", "startPosition": 86295649 } ], "primaryId": "HGNC:48617", "crossReferences": [ { "id": "ENSEMBL:ENSG00000260125" }, { "id": "NCBI_Gene:727915" }, { "pages": [ "gene/references" ], "id": "RGD:7244440" }, { "pages": [ "gene" ], "id": "HGNC:48617" }, { "id": "RGD:7244440" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGBL2", "geneSynopsis": "Predicted to enable metallocarboxypeptidase activity and tubulin binding activity. Predicted to be involved in protein side chain deglutamylation. Located in centriole and ciliary basal body. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "AGBL carboxypeptidase 2", "basicGeneticEntity": { "synonyms": [ "ATP/GTP binding protein like 2", "ATP/GTP binding protein-like 2", "ATP/GTP-binding protein-like 2", "CCP2", "FLJ23598", "cytoplasmic carboxypeptidase 2", "cytosolic carboxypeptidase 2", "testis tissue sperm-binding protein Li 96mP" ], "secondaryIds": [ "RGD:1602682" ], "genomeLocations": [ { "strand": "-", "endPosition": 47715389, "chromosome": "11", "assembly": "GRCh38", "startPosition": 47659591 } ], "primaryId": "HGNC:26296", "crossReferences": [ { "id": "ENSEMBL:ENSG00000165923" }, { "id": "ENSEMBL:ENSG00000285501" }, { "id": "NCBI_Gene:79841" }, { "id": "PANTHER:PTHR12756" }, { "id": "UniProtKB:Q5U5Z8" }, { "pages": [ "gene/references" ], "id": "RGD:1602682" }, { "pages": [ "gene" ], "id": "HGNC:26296" }, { "id": "RGD:1602682" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGBL3", "geneSynopsis": "Enables metallocarboxypeptidase activity. Involved in protein side chain deglutamylation. Predicted to be located in cytosol. Predicted to be active in centriole and cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "AGBL carboxypeptidase 3", "basicGeneticEntity": { "synonyms": [ "ATP/GTP binding protein like 3", "ATP/GTP binding protein-like 3", "ATP/GTP-binding protein-like 3", "CCP3", "FLJ12983", "MGC32955", "cytosolic carboxypeptidase 3" ], "secondaryIds": [ "RGD:1604170" ], "genomeLocations": [ { "strand": "+", "endPosition": 135147963, "chromosome": "7", "assembly": "GRCh38", "startPosition": 134986508 } ], "primaryId": "HGNC:27981", "crossReferences": [ { "id": "ENSEMBL:ENSG00000146856" }, { "id": "NCBI_Gene:340351" }, { "id": "PANTHER:PTHR12756" }, { "id": "UniProtKB:Q8NEM8" }, { "pages": [ "gene/references" ], "id": "RGD:1604170" }, { "pages": [ "gene" ], "id": "HGNC:27981" }, { "id": "RGD:1604170" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGBL4", "geneSynopsis": "Predicted to enable metallocarboxypeptidase activity and tubulin binding activity. Predicted to be involved in C-terminal protein deglutamylation; defense response to virus; and protein side chain deglutamylation. Predicted to act upstream of or within several processes, including axonal transport of mitochondrion; positive regulation of ubiquitin-dependent protein catabolic process; and regulation of blastocyst development. Located in Golgi apparatus; centriole; and ciliary basal body. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "AGBL carboxypeptidase 4", "basicGeneticEntity": { "synonyms": [ "ATP/GTP binding protein like 4", "ATP/GTP binding protein-like 4", "ATP/GTP-binding protein-like 4", "CCP6", "FLJ14442", "cytosolic carboxypeptidase 6" ], "secondaryIds": [ "RGD:1606202" ], "genomeLocations": [ { "strand": "-", "endPosition": 50023954, "chromosome": "1", "assembly": "GRCh38", "startPosition": 48522511 } ], "primaryId": "HGNC:25892", "crossReferences": [ { "id": "ENSEMBL:ENSG00000186094" }, { "id": "NCBI_Gene:84871" }, { "id": "PANTHER:PTHR12756" }, { "id": "UniProtKB:Q5VU57" }, { "pages": [ "gene/references" ], "id": "RGD:1606202" }, { "pages": [ "gene" ], "id": "HGNC:25892" }, { "id": "RGD:1606202" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGBL4-AS1", "soTermId": "SO:0001263", "name": "AGBL4 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:14696763" ], "genomeLocations": [ { "strand": "+", "endPosition": 49269294, "chromosome": "1", "assembly": "GRCh38", "startPosition": 49257411 } ], "primaryId": "HGNC:41123", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230114" }, { "id": "NCBI_Gene:101929721" }, { "pages": [ "gene/references" ], "id": "RGD:14696763" }, { "pages": [ "gene" ], "id": "HGNC:41123" }, { "id": "RGD:14696763" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGBL4-IT1", "soTermId": "SO:0001263", "name": "AGBL4 intronic transcript 1", "basicGeneticEntity": { "synonyms": [ "RP4-795A5.1" ], "secondaryIds": [ "RGD:6481033" ], "genomeLocations": [ { "strand": "-", "endPosition": 49472085, "chromosome": "1", "assembly": "GRCh38", "startPosition": 49374201 } ], "primaryId": "HGNC:41482", "crossReferences": [ { "id": "ENSEMBL:ENSG00000225623" }, { "id": "NCBI_Gene:100874313" }, { "pages": [ "gene/references" ], "id": "RGD:6481033" }, { "pages": [ "gene" ], "id": "HGNC:41482" }, { "id": "RGD:6481033" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGBL5", "geneSynopsis": "This gene encodes a metallocarboxypeptidase involved in protein deglutamylation and a member of the peptidase M14 family of proteins. The encoded protein has been described as a \"dual-functional\" deglutamylase that can remove glutamate residues from both carboxyl termini and side chains of protein substrates. This deglutamylase activity may be important in antiviral immunity. Mutations in this gene are associated with retinitis pigmentosa. [provided by RefSeq, Jul 2016]", "soTermId": "SO:0001217", "name": "AGBL carboxypeptidase 5", "basicGeneticEntity": { "synonyms": [ "ATP/GTP binding protein like 5", "ATP/GTP binding protein-like 5", "ATP/GTP-binding protein-like 5", "CCP5", "FLJ21839", "RP75", "cytosolic carboxypeptidase 5", "cytosolic carboxypeptidase-like protein 5" ], "secondaryIds": [ "RGD:1605057" ], "genomeLocations": [ { "strand": "+", "endPosition": 27070622, "chromosome": "2", "assembly": "GRCh38", "startPosition": 27042364 } ], "primaryId": "HGNC:26147", "crossReferences": [ { "id": "ENSEMBL:ENSG00000084693" }, { "id": "NCBI_Gene:60509" }, { "id": "PANTHER:PTHR12756" }, { "id": "UniProtKB:Q8NDL9" }, { "pages": [ "gene/references" ], "id": "RGD:1605057" }, { "pages": [ "gene" ], "id": "HGNC:26147" }, { "id": "RGD:1605057" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGBL5-AS1", "geneSynopsis": "INTERACTS WITH O-methyleugenol; sodium arsenite", "soTermId": "SO:0001263", "name": "AGBL5 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481376" ], "genomeLocations": [ { "strand": "-", "endPosition": 27050264, "chromosome": "2", "assembly": "GRCh38", "startPosition": 27049683 } ], "primaryId": "HGNC:41133", "crossReferences": [ { "id": "ENSEMBL:ENSG00000231636" }, { "id": "NCBI_Gene:100874031" }, { "pages": [ "gene/references" ], "id": "RGD:6481376" }, { "pages": [ "gene" ], "id": "HGNC:41133" }, { "id": "RGD:6481376" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGBL5-IT1", "soTermId": "SO:0001263", "name": "AGBL5 intronic transcript 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:10412636" ], "genomeLocations": [ { "strand": "+", "endPosition": 27061815, "chromosome": "2", "assembly": "GRCh38", "startPosition": 27061038 } ], "primaryId": "HGNC:41484", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229122" }, { "id": "NCBI_Gene:106481744" }, { "pages": [ "gene/references" ], "id": "RGD:10412636" }, { "pages": [ "gene" ], "id": "HGNC:41484" }, { "id": "RGD:10412636" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGER", "geneSynopsis": "The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011]", "soTermId": "SO:0001217", "name": "advanced glycosylation end-product specific receptor", "basicGeneticEntity": { "synonyms": [ "MGC22357", "RAGE", "RAGE isoform NtRAGE-delta", "RAGE isoform delta", "RAGE isoform sRAGE-delta", "SCARJ1", "advanced glycosylation end product-specific receptor", "receptor for advanced glycation end-products", "receptor for advanced glycation end-products variant 20", "receptor for advanced glycosylation end products", "receptor for advanced glycosylation end-products", "sRAGE" ], "secondaryIds": [ "RGD:737312" ], "genomeLocations": [ { "strand": "-", "endPosition": 32184344, "chromosome": "6", "assembly": "GRCh38", "startPosition": 32180963 } ], "primaryId": "HGNC:320", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230514" }, { "id": "ENSEMBL:ENSG00000204305" }, { "id": "ENSEMBL:ENSG00000206320" }, { "id": "ENSEMBL:ENSG00000229058" }, { "id": "ENSEMBL:ENSG00000231268" }, { "id": "ENSEMBL:ENSG00000234729" }, { "id": "ENSEMBL:ENSG00000237405" }, { "id": "NCBI_Gene:177" }, { "id": "PANTHER:PTHR11973" }, { "id": "UniProtKB:Q15109" }, { "pages": [ "gene/references" ], "id": "RGD:737312" }, { "pages": [ "gene" ], "id": "HGNC:320" }, { "id": "RGD:737312" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGFG1", "geneSynopsis": "The protein encoded by this gene is related to nucleoporins, a class of proteins that mediate nucleocytoplasmic transport. The encoded protein binds the activation domain of the human immunodeficiency virus Rev protein when Rev is assembled onto its RNA target, and is required for the nuclear export of Rev-directed RNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]", "soTermId": "SO:0001217", "name": "ArfGAP with FG repeats 1", "basicGeneticEntity": { "synonyms": [ "DKFZp686I15205", "HIV-1 Rev binding protein", "HIV-1 Rev-binding protein", "HRB", "MGC116938", "MGC116940", "RAB", "RIP", "Rab, Rev/Rex activation domain-binding protein", "arf-GAP domain and FG repeat-containing protein 1", "arf-GAP domain and FG repeats-containing protein 1", "hRIP, Rev interacting protein", "nucleoporin-like protein RIP", "rev-interacting protein", "rev/Rex activation domain-binding protein" ], "secondaryIds": [ "RGD:1321481" ], "genomeLocations": [ { "strand": "+", "endPosition": 227561217, "chromosome": "2", "assembly": "GRCh38", "startPosition": 227472134 } ], "primaryId": "HGNC:5175", "crossReferences": [ { "id": "ENSEMBL:ENSG00000173744" }, { "id": "NCBI_Gene:3267" }, { "id": "PANTHER:PTHR46134" }, { "id": "UniProtKB:P52594" }, { "pages": [ "gene/references" ], "id": "RGD:1321481" }, { "pages": [ "gene" ], "id": "HGNC:5175" }, { "id": "RGD:1321481" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGFG2", "geneSynopsis": "This gene is a member of the HIV-1 Rev binding protein (HRB) family and encodes a protein with one Arf-GAP zinc finger domain, several phe-gly (FG) motifs, and four asn-pro-phe (NPF) motifs. This protein interacts with Eps15 homology (EH) domains and plays a role in the Rev export pathway, which mediates the nucleocytoplasmic transfer of proteins and RNAs. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Feb 2013]", "soTermId": "SO:0001217", "name": "ArfGAP with FG repeats 2", "basicGeneticEntity": { "synonyms": [ "HIV-1 Rev binding protein-like", "HIV-1 Rev-binding protein-like protein", "HRBL", "RABR", "Rev/Rex activation domain binding protein-related", "arf-GAP domain and FG repeat-containing protein 2", "arf-GAP domain and FG repeats-containing protein 2", "nucleoporin", "rev/Rex activation domain-binding protein related" ], "secondaryIds": [ "RGD:1315293" ], "genomeLocations": [ { "strand": "+", "endPosition": 100568220, "chromosome": "7", "assembly": "GRCh38", "startPosition": 100539190 } ], "primaryId": "HGNC:5177", "crossReferences": [ { "id": "ENSEMBL:ENSG00000106351" }, { "id": "NCBI_Gene:3268" }, { "id": "PANTHER:PTHR46134" }, { "id": "UniProtKB:O95081" }, { "pages": [ "gene/references" ], "id": "RGD:1315293" }, { "pages": [ "gene" ], "id": "HGNC:5177" }, { "id": "RGD:1315293" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGGF1", "geneSynopsis": "This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010]", "soTermId": "SO:0001217", "name": "angiogenic factor with G-patch and FHA domains 1", "basicGeneticEntity": { "synonyms": [ "FLJ10283", "G patch domain-containing protein 7", "GPATC7", "GPATCH7", "HSU84971", "HUS84971", "VG5Q", "angiogenic factor VG5Q", "angiogenic factor with G patch and FHA domains 1", "hVG5Q", "vasculogenesis gene on 5q protein" ], "secondaryIds": [ "RGD:1350142" ], "genomeLocations": [ { "strand": "+", "endPosition": 77065234, "chromosome": "5", "assembly": "GRCh38", "startPosition": 77029251 } ], "primaryId": "HGNC:24684", "crossReferences": [ { "id": "ENSEMBL:ENSG00000164252" }, { "id": "NCBI_Gene:55109" }, { "id": "PANTHER:PTHR23106" }, { "id": "UniProtKB:Q8N302" }, { "pages": [ "gene/references" ], "id": "RGD:1350142" }, { "pages": [ "gene" ], "id": "HGNC:24684" }, { "id": "RGD:1350142" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGGF1P1", "soTermId": "SO:0000336", "name": "angiogenic factor with G-patch and FHA domains 1 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:3398757" ], "genomeLocations": [ { "strand": "+", "endPosition": 190044286, "chromosome": "4", "assembly": "GRCh38", "startPosition": 190040990 } ], "primaryId": "HGNC:38051", "crossReferences": [ { "id": "ENSEMBL:ENSG00000214273" }, { "id": "NCBI_Gene:100132380" }, { "pages": [ "gene/references" ], "id": "RGD:3398757" }, { "pages": [ "gene" ], "id": "HGNC:38051" }, { "id": "RGD:3398757" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGGF1P10", "soTermId": "SO:0000336", "name": "angiogenic factor with G-patch and FHA domains 1 pseudogene 10", "basicGeneticEntity": { "secondaryIds": [ "RGD:10043491" ], "genomeLocations": [ { "strand": "+", "endPosition": 29433778, "chromosome": "20", "assembly": "GRCh38", "startPosition": 29430464 } ], "primaryId": "HGNC:51747", "crossReferences": [ { "id": "ENSEMBL:ENSG00000282968" }, { "id": "NCBI_Gene:100288774" }, { "pages": [ "gene/references" ], "id": "RGD:10043491" }, { "pages": [ "gene" ], "id": "HGNC:51747" }, { "id": "RGD:10043491" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGGF1P2", "geneSynopsis": "INTERACTS WITH lipopolysaccharide; S-(1,2-dichlorovinyl)-L-cysteine; sodium arsenite", "soTermId": "SO:0000336", "name": "angiogenic factor with G-patch and FHA domains 1 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:3476565" ], "genomeLocations": [ { "strand": "+", "endPosition": 133643091, "chromosome": "10", "assembly": "GRCh38", "startPosition": 133640789 } ], "primaryId": "HGNC:38052", "crossReferences": [ { "id": "ENSEMBL:ENSG00000233435" }, { "id": "NCBI_Gene:644435" }, { "pages": [ "gene/references" ], "id": "RGD:3476565" }, { "pages": [ "gene" ], "id": "HGNC:38052" }, { "id": "RGD:3476565" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGGF1P3", "soTermId": "SO:0000336", "name": "angiogenic factor with G-patch and FHA domains 1 pseudogene 3", "basicGeneticEntity": { "secondaryIds": [ "RGD:2881504" ], "genomeLocations": [ { "strand": "-", "endPosition": 75655738, "chromosome": "3", "assembly": "GRCh38", "startPosition": 75653252 } ], "primaryId": "HGNC:38053", "crossReferences": [ { "id": "ENSEMBL:ENSG00000241532" }, { "id": "NCBI_Gene:391552" }, { "pages": [ "gene/references" ], "id": "RGD:2881504" }, { "pages": [ "gene" ], "id": "HGNC:38053" }, { "id": "RGD:2881504" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGGF1P4", "soTermId": "SO:0000336", "name": "angiogenic factor with G-patch and FHA domains 1 pseudogene 4", "basicGeneticEntity": { "secondaryIds": [ "RGD:3302159" ], "genomeLocations": [ { "strand": "-", "endPosition": 35390034, "chromosome": "16", "assembly": "GRCh38", "startPosition": 35389125 } ], "primaryId": "HGNC:38054", "crossReferences": [ { "id": "ENSEMBL:ENSG00000261689" }, { "id": "NCBI_Gene:100129351" }, { "pages": [ "gene/references" ], "id": "RGD:3302159" }, { "pages": [ "gene" ], "id": "HGNC:38054" }, { "id": "RGD:3302159" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGGF1P5", "soTermId": "SO:0000336", "name": "angiogenic factor with G-patch and FHA domains 1 pseudogene 5", "basicGeneticEntity": { "secondaryIds": [ "RGD:10043517" ], "genomeLocations": [ { "strand": "+", "endPosition": 35421382, "chromosome": "16", "assembly": "GRCh38", "startPosition": 35420223 } ], "primaryId": "HGNC:51741", "crossReferences": [ { "id": "ENSEMBL:ENSG00000260680" }, { "id": "NCBI_Gene:100128103" }, { "pages": [ "gene/references" ], "id": "RGD:10043517" }, { "pages": [ "gene" ], "id": "HGNC:51741" }, { "id": "RGD:10043517" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGGF1P6", "soTermId": "SO:0000336", "name": "angiogenic factor with G-patch and FHA domains 1 pseudogene 6", "basicGeneticEntity": { "secondaryIds": [ "RGD:10399815" ], "genomeLocations": [ { "strand": "+", "endPosition": 35490380, "chromosome": "16", "assembly": "GRCh38", "startPosition": 35489232 } ], "primaryId": "HGNC:51744", "crossReferences": [ { "id": "ENSEMBL:ENSG00000259836" }, { "id": "NCBI_Gene:106481737" }, { "pages": [ "gene/references" ], "id": "RGD:10399815" }, { "pages": [ "gene" ], "id": "HGNC:51744" }, { "id": "RGD:10399815" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGGF1P7", "soTermId": "SO:0000336", "name": "angiogenic factor with G-patch and FHA domains 1 pseudogene 7", "basicGeneticEntity": { "secondaryIds": [ "RGD:10043503" ], "genomeLocations": [ { "strand": "+", "endPosition": 35548991, "chromosome": "16", "assembly": "GRCh38", "startPosition": 35547854 } ], "primaryId": "HGNC:51740", "crossReferences": [ { "id": "ENSEMBL:ENSG00000260994" }, { "id": "NCBI_Gene:100132606" }, { "pages": [ "gene/references" ], "id": "RGD:10043503" }, { "pages": [ "gene" ], "id": "HGNC:51740" }, { "id": "RGD:10043503" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGGF1P8", "soTermId": "SO:0000336", "name": "angiogenic factor with G-patch and FHA domains 1 pseudogene 8", "basicGeneticEntity": { "secondaryIds": [ "RGD:10043518" ], "genomeLocations": [ { "strand": "+", "endPosition": 35259781, "chromosome": "16", "assembly": "GRCh38", "startPosition": 35258629 } ], "primaryId": "HGNC:51745", "crossReferences": [ { "id": "ENSEMBL:ENSG00000261752" }, { "id": "NCBI_Gene:100128804" }, { "pages": [ "gene/references" ], "id": "RGD:10043518" }, { "pages": [ "gene" ], "id": "HGNC:51745" }, { "id": "RGD:10043518" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGGF1P9", "soTermId": "SO:0000336", "name": "angiogenic factor with G-patch and FHA domains 1 pseudogene 9", "basicGeneticEntity": { "secondaryIds": [ "RGD:10043501" ], "genomeLocations": [ { "strand": "+", "endPosition": 35348351, "chromosome": "16", "assembly": "GRCh38", "startPosition": 35347320 } ], "primaryId": "HGNC:51746", "crossReferences": [ { "id": "ENSEMBL:ENSG00000260427" }, { "id": "NCBI_Gene:100127958" }, { "pages": [ "gene/references" ], "id": "RGD:10043501" }, { "pages": [ "gene" ], "id": "HGNC:51746" }, { "id": "RGD:10043501" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGK", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "acylglycerol kinase", "basicGeneticEntity": { "synonyms": [ "CATC5", "CTRCT38", "FLJ10842", "MTDPS10", "MULK", "acylglycerol kinase, mitochondrial", "hAGK", "hsMuLK", "multi-substrate lipid kinase", "multiple substrate lipid kinase" ], "secondaryIds": [ "RGD:1352363" ], "genomeLocations": [ { "strand": "+", "endPosition": 141655244, "chromosome": "7", "assembly": "GRCh38", "startPosition": 141551278 } ], "primaryId": "HGNC:21869", "crossReferences": [ { "id": "ENSEMBL:ENSG00000006530" }, { "id": "ENSEMBL:ENSG00000262327" }, { "id": "NCBI_Gene:55750" }, { "id": "PANTHER:PTHR12358" }, { "id": "UniProtKB:Q53H12" }, { "pages": [ "gene/references" ], "id": "RGD:1352363" }, { "pages": [ "gene" ], "id": "HGNC:21869" }, { "id": "RGD:1352363" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGK-DT", "soTermId": "SO:0001263", "name": "AGK divergent transcript", "basicGeneticEntity": { "synonyms": [ "AC073878.1", "LOC105375538", "novel transcript, antisense to AGK", "uncharacterized LOC105375538" ], "secondaryIds": [ "RGD:38641796" ], "genomeLocations": [ { "strand": "-", "endPosition": 141551345, "chromosome": "7", "assembly": "GRCh38", "startPosition": 141499913 } ], "primaryId": "HGNC:55356", "crossReferences": [ { "id": "ENSEMBL:ENSG00000261570" }, { "id": "NCBI_Gene:105375538" }, { "pages": [ "gene/references" ], "id": "RGD:38641796" }, { "pages": [ "gene" ], "id": "HGNC:55356" }, { "id": "RGD:38641796" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGKP1", "geneSynopsis": "INTERACTS WITH copper atom; copper(0); lipopolysaccharide", "soTermId": "SO:0000336", "name": "AGK pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AGKY1", "acylglycerol kinase pseudogene 1" ], "secondaryIds": [ "RGD:2794508" ], "genomeLocations": [ { "strand": "+", "endPosition": 14640358, "chromosome": "Y", "assembly": "GRCh38", "startPosition": 14639057 } ], "primaryId": "HGNC:37661", "crossReferences": [ { "id": "ENSEMBL:ENSG00000226555" }, { "id": "NCBI_Gene:359793" }, { "pages": [ "gene/references" ], "id": "RGD:2794508" }, { "pages": [ "gene" ], "id": "HGNC:37661" }, { "id": "RGD:2794508" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGKP2", "soTermId": "SO:0000336", "name": "AGK pseudogene 2", "basicGeneticEntity": { "synonyms": [ "AL049792.1", "LOC392543", "acylglycerol kinase pseudogene", "acylglycerol kinase, pseudogene" ], "secondaryIds": [ "RGD:16554236" ], "genomeLocations": [ { "strand": "-", "endPosition": 132131383, "chromosome": "X", "assembly": "GRCh38", "startPosition": 132130091 } ], "primaryId": "HGNC:55132", "crossReferences": [ { "id": "ENSEMBL:ENSG00000228819" }, { "id": "NCBI_Gene:392543" }, { "pages": [ "gene/references" ], "id": "RGD:16554236" }, { "pages": [ "gene" ], "id": "HGNC:55132" }, { "id": "RGD:16554236" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGL", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase", "basicGeneticEntity": { "synonyms": [ "GDE", "amylo-1, 6-glucosidase, 4-alpha-glucanotransferase", "amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase", "amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferaseprovided", "glycogen debrancher", "glycogen debranching enzyme" ], "secondaryIds": [ "RGD:1314958" ], "genomeLocations": [ { "strand": "+", "endPosition": 99924024, "chromosome": "1", "assembly": "GRCh38", "startPosition": 99849258 } ], "primaryId": "HGNC:321", "crossReferences": [ { "id": "ENSEMBL:ENSG00000162688" }, { "id": "NCBI_Gene:178" }, { "id": "PANTHER:PTHR10569" }, { "id": "UniProtKB:P35573" }, { "pages": [ "gene/references" ], "id": "RGD:1314958" }, { "pages": [ "gene" ], "id": "HGNC:321" }, { "id": "RGD:1314958" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGMAT", "geneSynopsis": "Enables arginase activity; guanidinobutyrase activity; and guanidinopropionase activity. Predicted to be involved in putrescine biosynthetic process from arginine, via agmatine. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "agmatinase (putative)", "basicGeneticEntity": { "synonyms": [ "AUH", "FLJ23384", "agmatinase", "agmatinase, mitochondrial", "agmatine ureohydrolase (agmatinase)", "arginase, mitochondrial", "guanidino acid hydrolase, mitochondrial", "guanidinobutyrase, mitochondrial", "guanidinopropionase, mitochondrial" ], "secondaryIds": [ "RGD:1318183" ], "genomeLocations": [ { "strand": "-", "endPosition": 15585078, "chromosome": "1", "assembly": "GRCh38", "startPosition": 15571699 } ], "primaryId": "HGNC:18407", "crossReferences": [ { "id": "ENSEMBL:ENSG00000116771" }, { "id": "NCBI_Gene:79814" }, { "id": "PANTHER:PTHR11358" }, { "id": "UniProtKB:Q9BSE5" }, { "pages": [ "gene/references" ], "id": "RGD:1318183" }, { "pages": [ "gene" ], "id": "HGNC:18407" }, { "id": "RGD:1318183" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGMO", "geneSynopsis": "The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012]", "soTermId": "SO:0001217", "name": "alkylglycerol monooxygenase", "basicGeneticEntity": { "synonyms": [ "FLJ16237", "MGC131748", "TMEM195", "glyceryl-ether monooxygenase", "transmembrane protein 195" ], "secondaryIds": [ "RGD:1606863" ], "genomeLocations": [ { "strand": "-", "endPosition": 15562017, "chromosome": "7", "assembly": "GRCh38", "startPosition": 15117223 } ], "primaryId": "HGNC:33784", "crossReferences": [ { "id": "ENSEMBL:ENSG00000187546" }, { "id": "NCBI_Gene:392636" }, { "id": "PANTHER:PTHR21624" }, { "id": "UniProtKB:Q6ZNB7" }, { "pages": [ "gene/references" ], "id": "RGD:1606863" }, { "pages": [ "gene" ], "id": "HGNC:33784" }, { "id": "RGD:1606863" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGO1", "geneSynopsis": "This gene encodes a member of the argonaute family of proteins, which associate with small RNAs and have important roles in RNA interference (RNAi) and RNA silencing. This protein binds to microRNAs (miRNAs) or small interfering RNAs (siRNAs) and represses translation of mRNAs that are complementary to them. It is also involved in transcriptional gene silencing (TGS) of promoter regions that are complementary to bound short antigene RNAs (agRNAs), as well as in the degradation of miRNA-bound mRNA targets. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target, and that its mRNA could give rise to an additional C-terminally extended isoform by use of an alternative in-frame translation termination codon. [provided by RefSeq, Nov 2015]", "soTermId": "SO:0001217", "name": "argonaute RISC component 1", "basicGeneticEntity": { "synonyms": [ "DKFZp686M13167", "EIF2C", "EIF2C1", "GERP95", "Golgi Endoplasmic Reticulum protein 95 kDa", "NEDLBAS", "Q99", "argonaute 1", "argonaute 1, RISC catalytic component", "argonaute RISC catalytic component 1", "argonaute1", "eIF-2C 1", "eIF2C 1", "eukaryotic translation initiation factor 2C, 1", "hAgo1", "protein argonaute-1", "putative RNA-binding protein Q99" ], "secondaryIds": [ "RGD:1312163" ], "genomeLocations": [ { "strand": "+", "endPosition": 35930532, "chromosome": "1", "assembly": "GRCh38", "startPosition": 35869761 } ], "primaryId": "HGNC:3262", "crossReferences": [ { "id": "ENSEMBL:ENSG00000092847" }, { "id": "NCBI_Gene:26523" }, { "id": "PANTHER:PTHR22891" }, { "id": "UniProtKB:Q9UL18" }, { "pages": [ "gene/references" ], "id": "RGD:1312163" }, { "pages": [ "gene" ], "id": "HGNC:3262" }, { "id": "RGD:1312163" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGO2", "geneSynopsis": "This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]", "soTermId": "SO:0001217", "name": "argonaute RISC catalytic component 2", "basicGeneticEntity": { "synonyms": [ "CASC7", "CTA-204B4.6", "EIF2C2", "LESKRES", "LINC00980", "MGC3183", "PAZ Piwi domain protein", "PPD", "Q10", "argonaute 2", "argonaute 2, RISC catalytic component", "argonaute2", "cancer susceptibility candidate 7", "cancer susceptibility candidate 7 (non-protein coding)", "eIF-2C 2", "eIF2C 2", "eukaryotic translation initiation factor 2C, 2", "hAgo2", "long intergenic non-protein coding RNA 980", "protein argonaute-2", "protein slicer" ], "secondaryIds": [ "RGD:732767" ], "genomeLocations": [ { "strand": "-", "endPosition": 140642313, "chromosome": "8", "assembly": "GRCh38", "startPosition": 140520156 } ], "primaryId": "HGNC:3263", "crossReferences": [ { "id": "ENSEMBL:ENSG00000123908" }, { "id": "NCBI_Gene:27161" }, { "id": "PANTHER:PTHR22891" }, { "id": "UniProtKB:Q9UKV8" }, { "pages": [ "gene/references" ], "id": "RGD:732767" }, { "pages": [ "gene" ], "id": "HGNC:3263" }, { "id": "RGD:732767" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGO3", "geneSynopsis": "This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, contains a PAZ domain and a PIWI domain, and may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a tandem cluster of closely related family members including argonaute 4 and eukaryotic translation initiation factor 2C, 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "argonaute RISC catalytic component 3", "basicGeneticEntity": { "synonyms": [ "EIF2C3", "FLJ12765", "MGC86946", "argonaute 3", "argonaute 3, RISC catalytic component", "argonaute3", "eIF-2C 3", "eIF2C 3", "eukaryotic translation initiation factor 2C, 3", "hAgo3", "protein argonaute-3" ], "secondaryIds": [ "RGD:1319350" ], "genomeLocations": [ { "strand": "+", "endPosition": 36072500, "chromosome": "1", "assembly": "GRCh38", "startPosition": 35930696 } ], "primaryId": "HGNC:18421", "crossReferences": [ { "id": "ENSEMBL:ENSG00000126070" }, { "id": "NCBI_Gene:192669" }, { "id": "PANTHER:PTHR22891" }, { "id": "UniProtKB:Q9H9G7" }, { "pages": [ "gene/references" ], "id": "RGD:1319350" }, { "pages": [ "gene" ], "id": "HGNC:18421" }, { "id": "RGD:1319350" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGO4", "geneSynopsis": "This gene encodes a member of the Argonaute family of proteins which contain PAZ and PIWI domains and play an integral role in RNA interference and short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of related family members. [provided by RefSeq, Mar 2017]", "soTermId": "SO:0001217", "name": "argonaute RISC component 4", "basicGeneticEntity": { "synonyms": [ "EIF2C4", "argonaute 4", "argonaute 4, RISC catalytic component", "argonaute RISC catalytic component 4", "argonaute4", "eIF-2C 4", "eIF2C 4", "eukaryotic translation initiation factor 2C, 4", "hAgo4", "protein argonaute-4" ], "secondaryIds": [ "RGD:1312105" ], "genomeLocations": [ { "strand": "+", "endPosition": 35857890, "chromosome": "1", "assembly": "GRCh38", "startPosition": 35807636 } ], "primaryId": "HGNC:18424", "crossReferences": [ { "id": "ENSEMBL:ENSG00000134698" }, { "id": "NCBI_Gene:192670" }, { "id": "PANTHER:PTHR22891" }, { "id": "UniProtKB:Q9HCK5" }, { "pages": [ "gene/references" ], "id": "RGD:1312105" }, { "pages": [ "gene" ], "id": "HGNC:18424" }, { "id": "RGD:1312105" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGPAT1", "geneSynopsis": "This gene encodes an enzyme that converts lysophosphatidic acid (LPA) into phosphatidic acid (PA). LPA and PA are two phospholipids involved in signal transduction and in lipid biosynthesis in cells. This enzyme localizes to the endoplasmic reticulum. This gene is located in the class III region of the human major histocompatibility complex. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "1-acylglycerol-3-phosphate O-acyltransferase 1", "basicGeneticEntity": { "synonyms": [ "1-AGP acyltransferase 1", "1-AGPAT 1", "1-AGPAT1", "1-acyl-sn-glycerol-3-phosphate acyltransferase alpha", "1-acylglycerol-3-phosphate O-acyltransferase 1 (acetoacetly Coenzyme A thiolase)", "1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)", "G15", "LPAAT-alpha", "LPAATA", "LPLAT1", "MGC4007", "MGC5423", "lysophosphatidic acid acyltransferase alpha", "lysophospholipid acyltransferase", "lysophospholipid acyltransferase l" ], "secondaryIds": [ "RGD:1348475" ], "genomeLocations": [ { "strand": "-", "endPosition": 32178108, "chromosome": "6", "assembly": "GRCh38", "startPosition": 32168205 } ], "primaryId": "HGNC:324", "crossReferences": [ { "id": "ENSEMBL:ENSG00000228892" }, { "id": "ENSEMBL:ENSG00000204310" }, { "id": "ENSEMBL:ENSG00000236873" }, { "id": "ENSEMBL:ENSG00000235758" }, { "id": "ENSEMBL:ENSG00000227642" }, { "id": "ENSEMBL:ENSG00000226467" }, { "id": "ENSEMBL:ENSG00000206324" }, { "id": "NCBI_Gene:10554" }, { "id": "PANTHER:PTHR10434" }, { "id": "UniProtKB:Q99943" }, { "pages": [ "gene/references" ], "id": "RGD:1348475" }, { "pages": [ "gene" ], "id": "HGNC:324" }, { "id": "RGD:1348475" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGPAT2", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "1-acylglycerol-3-phosphate O-acyltransferase 2", "basicGeneticEntity": { "synonyms": [ "1-AGP acyltransferase 2", "1-AGPAT 2", "1-AGPAT2", "1-acyl-sn-glycerol-3-phosphate acyltransferase beta", "1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)", "1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase-beta)", "BSCL", "BSCL1", "LPAAB", "LPAAT-beta", "LPLAT2", "lysophosphatidic acid acyltransferase beta", "lysophosphatidic acid acyltransferase-beta", "lysophospholipid acyltransferase 2", "testicular tissue protein Li 143" ], "secondaryIds": [ "RGD:1319453" ], "genomeLocations": [ { "strand": "-", "endPosition": 136687457, "chromosome": "9", "assembly": "GRCh38", "startPosition": 136673142 } ], "primaryId": "HGNC:325", "crossReferences": [ { "id": "ENSEMBL:ENSG00000169692" }, { "id": "NCBI_Gene:10555" }, { "id": "PANTHER:PTHR10434" }, { "id": "UniProtKB:O15120" }, { "pages": [ "gene/references" ], "id": "RGD:1319453" }, { "pages": [ "gene" ], "id": "HGNC:325" }, { "id": "RGD:1319453" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGPAT3", "geneSynopsis": "The protein encoded by this gene is an acyltransferase that converts lysophosphatidic acid into phosphatidic acid, which is the second step in the de novo phospholipid biosynthetic pathway. The encoded protein may be an integral membrane protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "1-acylglycerol-3-phosphate O-acyltransferase 3", "basicGeneticEntity": { "synonyms": [ "1-AGP acyltransferase 3", "1-AGPAT 3", "1-acyl-sn-glycerol-3-phosphate acyltransferase gamma", "LPAAT-GAMMA1", "LPAAT3", "LPLAT3", "MGC4604", "lysophosphatidic acid acyltransferase gamma", "lysophosphatidic acid acyltransferase-gamma1", "lysophospholipid acyltransferase 3" ], "secondaryIds": [ "RGD:1314029" ], "genomeLocations": [ { "strand": "+", "endPosition": 43987592, "chromosome": "21", "assembly": "GRCh38", "startPosition": 43865223 } ], "primaryId": "HGNC:326", "crossReferences": [ { "id": "ENSEMBL:ENSG00000160216" }, { "id": "NCBI_Gene:56894" }, { "id": "PANTHER:PTHR10983" }, { "id": "UniProtKB:Q9NRZ7" }, { "pages": [ "gene/references" ], "id": "RGD:1314029" }, { "pages": [ "gene" ], "id": "HGNC:326" }, { "id": "RGD:1314029" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGPAT4", "geneSynopsis": "This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "1-acylglycerol-3-phosphate O-acyltransferase 4", "basicGeneticEntity": { "synonyms": [ "1-AGP acyltransferase 4", "1-AGPAT 4", "1-AGPAT4", "1-acyl-sn-glycerol-3-phosphate acyltransferase delta", "1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)", "LPAAT-delta", "LPAAT4", "LPLAT4", "RP3-473J16.2", "dJ473J16.2", "lysophosphatidic acid acyltransferase delta", "lysophosphatidic acid acyltransferase-delta (LPAAT-delta)", "lysophospholipid acyltransferase 4" ], "secondaryIds": [ "RGD:1354001" ], "genomeLocations": [ { "strand": "-", "endPosition": 161274095, "chromosome": "6", "assembly": "GRCh38", "startPosition": 161129967 } ], "primaryId": "HGNC:20885", "crossReferences": [ { "id": "ENSEMBL:ENSG00000026652" }, { "id": "NCBI_Gene:56895" }, { "id": "PANTHER:PTHR10983" }, { "id": "UniProtKB:Q9NRZ5" }, { "pages": [ "gene/references" ], "id": "RGD:1354001" }, { "pages": [ "gene" ], "id": "HGNC:20885" }, { "id": "RGD:1354001" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGPAT4-IT1", "geneSynopsis": "INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; 4,4'-sulfonyldiphenol; atrazine", "soTermId": "SO:0001263", "name": "AGPAT4 intronic transcript 1", "basicGeneticEntity": { "synonyms": [ "C6orf59", "FLJ23112", "NCRNA00241" ], "secondaryIds": [ "RGD:1348313" ], "genomeLocations": [ { "strand": "-", "endPosition": 161161982, "chromosome": "6", "assembly": "GRCh38", "startPosition": 161160114 } ], "primaryId": "HGNC:20988", "crossReferences": [ { "id": "NCBI_Gene:79992" }, { "id": "UniProtKB:Q9H0P7" }, { "pages": [ "gene/references" ], "id": "RGD:1348313" }, { "pages": [ "gene" ], "id": "HGNC:20988" }, { "id": "RGD:1348313" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGPAT5", "geneSynopsis": "This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. A pseudogene of this gene is present on the Y chromosome. [provided by RefSeq, Aug 2014]", "soTermId": "SO:0001217", "name": "1-acylglycerol-3-phosphate O-acyltransferase 5", "basicGeneticEntity": { "synonyms": [ "1-AGP acyltransferase 5", "1-AGPAT 5", "1-acyl-sn-glycerol-3-phosphate acyltransferase epsilon", "1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)", "1AGPAT5", "LPAATE", "LPLAT5", "lysophosphatidic acid acyltransferase epsilon", "lysophospholipid acyltransferase 5", "testicular tissue protein Li 144" ], "secondaryIds": [ "RGD:1347516" ], "genomeLocations": [ { "strand": "+", "endPosition": 6761503, "chromosome": "8", "assembly": "GRCh38", "startPosition": 6708341 } ], "primaryId": "HGNC:20886", "crossReferences": [ { "id": "ENSEMBL:ENSG00000155189" }, { "id": "ENSEMBL:ENSG00000284980" }, { "id": "NCBI_Gene:55326" }, { "id": "PANTHER:PTHR10983" }, { "id": "UniProtKB:Q9NUQ2" }, { "pages": [ "gene/references" ], "id": "RGD:1347516" }, { "pages": [ "gene" ], "id": "HGNC:20886" }, { "id": "RGD:1347516" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGPAT5P1", "soTermId": "SO:0000336", "name": "1-acylglycerol-3-phosphate O-acyltransferase 5 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:3077880" ], "genomeLocations": [ { "strand": "+", "endPosition": 3294826, "chromosome": "Y", "assembly": "GRCh38", "startPosition": 3293782 } ], "primaryId": "HGNC:37709", "crossReferences": [ { "id": "ENSEMBL:ENSG00000234652" }, { "id": "NCBI_Gene:646231" }, { "pages": [ "gene/references" ], "id": "RGD:3077880" }, { "pages": [ "gene" ], "id": "HGNC:37709" }, { "id": "RGD:3077880" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGPS", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "alkylglycerone phosphate synthase", "basicGeneticEntity": { "synonyms": [ "ADAP-S", "ADAS", "ADHAPS", "ADPS", "ALDHPSY", "DKFZp762O2215", "FLJ99755", "RCDP3", "aging-associated gene 5 protein", "aging-associated protein 5", "alkyl-DHAP synthase", "alkyldihydroxyacetonephosphate synthase, peroxisomal", "alkylglycerone-phosphate synthase" ], "secondaryIds": [ "RGD:732011" ], "genomeLocations": [ { "strand": "+", "endPosition": 177567024, "chromosome": "2", "assembly": "GRCh38", "startPosition": 177392576 } ], "primaryId": "HGNC:327", "crossReferences": [ { "id": "ENSEMBL:ENSG00000018510" }, { "id": "NCBI_Gene:8540" }, { "id": "PANTHER:PTHR46568" }, { "id": "UniProtKB:O00116" }, { "pages": [ "gene/references" ], "id": "RGD:732011" }, { "pages": [ "gene" ], "id": "HGNC:327" }, { "id": "RGD:732011" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGR2", "geneSynopsis": "This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, and a C-terminal ER-retention sequence. This protein plays a role in cell migration, cellular transformation and metastasis and is as a p53 inhibitor. As an ER-localized molecular chaperone, it plays a role in the folding, trafficking, and assembly of cysteine-rich transmembrane receptors and the cysteine-rich intestinal gylcoprotein mucin. This gene has been implicated in inflammatory bowel disease and cancer progression. [provided by RefSeq, Mar 2017]", "soTermId": "SO:0001217", "name": "anterior gradient 2, protein disulphide isomerase family member", "basicGeneticEntity": { "synonyms": [ "AG-2", "AG2", "GOB-4", "HAG-2", "HEL-S-116", "HPC8", "PDIA17", "RIFTD", "XAG-2", "anterior gradient 2 homolog", "anterior gradient 2 homolog (xenopus laevis)", "anterior gradient homolog 2", "anterior gradient protein 2 homolog", "epididymis secretory protein Li 116", "protein disulfide isomerase family A, member 17", "secreted cement gland homolog", "secreted cement gland protein XAG-2 homolog" ], "secondaryIds": [ "RGD:1312142" ], "genomeLocations": [ { "strand": "-", "endPosition": 16833433, "chromosome": "7", "assembly": "GRCh38", "startPosition": 16791387 } ], "primaryId": "HGNC:328", "crossReferences": [ { "id": "ENSEMBL:ENSG00000106541" }, { "id": "NCBI_Gene:10551" }, { "id": "PANTHER:PTHR15337" }, { "id": "UniProtKB:O95994" }, { "pages": [ "gene/references" ], "id": "RGD:1312142" }, { "pages": [ "gene" ], "id": "HGNC:328" }, { "id": "RGD:1312142" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGR3", "geneSynopsis": "This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, and a C-terminal ER-retention sequence. This gene is expressed in ciliated airway epithelial cells and, in mouse, plays a role in ciliary beat frequency in multiciliated cells. This gene is also over-expressed in breast, ovarian, and prostrate cancers. [provided by RefSeq, Dec 2016]", "soTermId": "SO:0001217", "name": "anterior gradient 3, protein disulphide isomerase family member", "basicGeneticEntity": { "synonyms": [ "AG-3", "AG3", "BCMP11", "HAG3", "PDIA18", "anterior gradient 3 homolog", "anterior gradient homolog 3", "anterior gradient protein 3", "anterior gradient protein 3 homolog", "breast cancer membrane protein 11", "hAG-3", "protein disulfide isomerase family A, member 18" ], "secondaryIds": [ "RGD:1604981" ], "genomeLocations": [ { "strand": "-", "endPosition": 16881987, "chromosome": "7", "assembly": "GRCh38", "startPosition": 16854681 } ], "primaryId": "HGNC:24167", "crossReferences": [ { "id": "ENSEMBL:ENSG00000173467" }, { "id": "NCBI_Gene:155465" }, { "id": "PANTHER:PTHR15337" }, { "id": "UniProtKB:Q8TD06" }, { "pages": [ "gene/references" ], "id": "RGD:1604981" }, { "pages": [ "gene" ], "id": "HGNC:24167" }, { "id": "RGD:1604981" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGRN", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "agrin", "basicGeneticEntity": { "synonyms": [ "CMS8", "CMSPPD", "FLJ45064", "agrin proteoglycan" ], "secondaryIds": [ "RGD:1606873" ], "genomeLocations": [ { "strand": "+", "endPosition": 1056119, "chromosome": "1", "assembly": "GRCh38", "startPosition": 1020120 } ], "primaryId": "HGNC:329", "crossReferences": [ { "id": "ENSEMBL:ENSG00000188157" }, { "id": "NCBI_Gene:375790" }, { "id": "PANTHER:PTHR15036" }, { "id": "UniProtKB:O00468" }, { "pages": [ "gene/references" ], "id": "RGD:1606873" }, { "pages": [ "gene" ], "id": "HGNC:329" }, { "id": "RGD:1606873" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGRP", "geneSynopsis": "This gene encodes an antagonist of the melanocortin-3 and melanocortin-4 receptor. It appears to regulate hypothalamic control of feeding behavior via melanocortin receptor and/or intracellular calcium regulation, and thus plays a role in weight homeostasis. Mutations in this gene have been associated with late on-set obesity. [provided by RefSeq, Dec 2009]", "soTermId": "SO:0001217", "name": "agouti related neuropeptide", "basicGeneticEntity": { "synonyms": [ "AGRT", "ART", "ASIP2", "MGC118963", "agouti related protein homolog", "agouti-related protein" ], "secondaryIds": [ "RGD:736333" ], "genomeLocations": [ { "strand": "-", "endPosition": 67483548, "chromosome": "16", "assembly": "GRCh38", "startPosition": 67482571 } ], "primaryId": "HGNC:330", "crossReferences": [ { "id": "ENSEMBL:ENSG00000159723" }, { "id": "NCBI_Gene:181" }, { "id": "PANTHER:PTHR16551" }, { "id": "UniProtKB:O00253" }, { "pages": [ "gene/references" ], "id": "RGD:736333" }, { "pages": [ "gene" ], "id": "HGNC:330" }, { "id": "RGD:736333" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGT", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "angiotensinogen", "basicGeneticEntity": { "synonyms": [ "ANHU", "FLJ92595", "FLJ97926", "SERPINA8", "alpha-1 antiproteinase, antitrypsin", "angiotensin I", "angiotensin II", "angiotensinogen (serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 8)", "angiotensinogen (serpin peptidase inhibitor, clade A, member 8)", "fetal-liver predominant transporter 1", "hFLT1", "pre-angiotensinogen", "serine (or cysteine) proteinase inhibitor", "serpin A8", "serpin peptidase inhibitor, clade A, member 8" ], "secondaryIds": [ "RGD:731070" ], "genomeLocations": [ { "strand": "-", "endPosition": 230745583, "chromosome": "1", "assembly": "GRCh38", "startPosition": 230690776 } ], "primaryId": "HGNC:333", "crossReferences": [ { "id": "ENSEMBL:ENSG00000135744" }, { "id": "NCBI_Gene:183" }, { "id": "PANTHER:PTHR11461" }, { "id": "UniProtKB:P01019" }, { "pages": [ "gene/references" ], "id": "RGD:731070" }, { "pages": [ "gene" ], "id": "HGNC:333" }, { "id": "RGD:731070" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGTPBP1", "geneSynopsis": "NNA1 is a zinc carboxypeptidase that contains nuclear localization signals and an ATP/GTP-binding motif that was initially cloned from regenerating spinal cord neurons of the mouse.[supplied by OMIM, Jul 2002]", "soTermId": "SO:0001217", "name": "ATP/GTP binding carboxypeptidase 1", "basicGeneticEntity": { "synonyms": [ "AL353743.2", "ATP/GTP binding protein 1", "ATP/GTP-binding protein 1", "CCP1", "CONDCA", "DKFZp686M20191", "KIAA1035", "LOC102724057", "NNA1", "carboxypeptidase-tubulin", "cytosolic carboxypeptidase 1", "nervous system nuclear protein induced by axotomy", "nervous system nuclear protein induced by axotomy protein 1 homolog", "soluble carboxypeptidase", "tubulinyl-Tyr carboxypeptidase", "tyrosine carboxypeptidase", "uncharacterized LOC102724057" ], "secondaryIds": [ "RGD:1314853" ], "genomeLocations": [ { "strand": "-", "endPosition": 85805483, "chromosome": "9", "assembly": "GRCh38", "startPosition": 85546539 } ], "primaryId": "HGNC:17258", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230303" }, { "id": "ENSEMBL:ENSG00000135049" }, { "id": "NCBI_Gene:23287" }, { "id": "PANTHER:PTHR12756" }, { "id": "UniProtKB:Q9UPW5" }, { "pages": [ "gene/references" ], "id": "RGD:1314853" }, { "pages": [ "gene" ], "id": "HGNC:17258" }, { "id": "RGD:1314853" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGTR1", "geneSynopsis": "Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2020]", "soTermId": "SO:0001217", "name": "angiotensin II receptor type 1", "basicGeneticEntity": { "synonyms": [ "AG2S", "AGTR1A", "AGTR1B", "AT1", "AT1 receptor", "AT1AR", "AT1B", "AT1BR", "AT1R", "AT2R1", "AT2R1A", "AT2R1B", "ATR1", "HAT1R", "angiotensin II receptor, type 1", "angiotensin II type-1 receptor", "angiotensin receptor 1", "angiotensin receptor 1B", "type-1 angiotensin II receptor", "type-1B angiotensin II receptor" ], "secondaryIds": [ "RGD:68977" ], "genomeLocations": [ { "strand": "+", "endPosition": 148743045, "chromosome": "3", "assembly": "GRCh38", "startPosition": 148697784 } ], "primaryId": "HGNC:336", "crossReferences": [ { "id": "ENSEMBL:ENSG00000144891" }, { "id": "NCBI_Gene:185" }, { "id": "PANTHER:PTHR10489" }, { "id": "UniProtKB:P30556" }, { "pages": [ "gene/references" ], "id": "RGD:68977" }, { "pages": [ "gene" ], "id": "HGNC:336" }, { "id": "RGD:68977" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGTR2", "geneSynopsis": "The protein encoded by this gene belongs to the G-protein coupled receptor 1 family, and functions as a receptor for angiotensin II. It is an intergral membrane protein that is highly expressed in fetus and in neonates, but scantily in adult tissues, except brain, adrenal medulla, and atretic ovary. This receptor has been shown to mediate programmed cell death and this apoptotic function may play an important role in developmental biology and pathophysiology. Mutations in this gene are been associated with X-linked cognitive disability. Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV) and SARS-CoV-2 infection results in down-regulation of angiotensin converting enzyme-2 (ACE2) receptors, the effects of which, triggers serious inflammatory lesions in the tissues involved, primarily in the lungs. The inflammatory reaction appears to be mediated by angiotensin II derivatives, including the angiotensin AT2 receptor which has been found to be upregulated in bronchoalveolar lavage samples from Coronavirus disease 2019 (COVID19) patients. [provided by RefSeq, Jul 2020]", "soTermId": "SO:0001217", "name": "angiotensin II receptor type 2", "basicGeneticEntity": { "synonyms": [ "AT2", "AT2 receptor", "ATGR2", "MRX88", "angiotensin II receptor, type 2", "angiotensin II type-2 receptor", "type-2 angiotensin II receptor" ], "secondaryIds": [ "RGD:619558" ], "genomeLocations": [ { "strand": "+", "endPosition": 116174974, "chromosome": "X", "assembly": "GRCh38", "startPosition": 116170744 } ], "primaryId": "HGNC:338", "crossReferences": [ { "id": "ENSEMBL:ENSG00000180772" }, { "id": "NCBI_Gene:186" }, { "id": "PANTHER:PTHR10489" }, { "id": "UniProtKB:P50052" }, { "pages": [ "gene/references" ], "id": "RGD:619558" }, { "pages": [ "gene" ], "id": "HGNC:338" }, { "id": "RGD:619558" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGTRAP", "geneSynopsis": "This gene encodes a transmembrane protein localized to the plasma membrane and perinuclear vesicular structures. The gene product interacts with the angiotensin II type I receptor and negatively regulates angiotensin II signaling. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "angiotensin II receptor associated protein", "basicGeneticEntity": { "synonyms": [ "AT1 receptor-associated protein", "ATI receptor-associated protein", "ATRAP", "MGC29646", "angiotensin II, type I receptor-associated protein", "type-1 angiotensin II receptor-associated protein" ], "secondaryIds": [ "RGD:1350151" ], "genomeLocations": [ { "strand": "+", "endPosition": 11754802, "chromosome": "1", "assembly": "GRCh38", "startPosition": 11736084 } ], "primaryId": "HGNC:13539", "crossReferences": [ { "id": "ENSEMBL:ENSG00000177674" }, { "id": "NCBI_Gene:57085" }, { "id": "PANTHER:PTHR16521" }, { "id": "UniProtKB:Q6RW13" }, { "pages": [ "gene/references" ], "id": "RGD:1350151" }, { "pages": [ "gene" ], "id": "HGNC:13539" }, { "id": "RGD:1350151" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGXT", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "alanine--glyoxylate aminotransferase", "basicGeneticEntity": { "synonyms": [ "AGT", "AGT1", "AGXT1", "L-alanine: glyoxylate aminotransferase 1", "PH1", "SPAT", "SPT", "Ser-PyrAT", "TLH6", "alanine--glyoxylate and serine--pyruvate aminotransferase", "alanine-glyoxylate aminotransferase", "hepatic peroxisomal alanine:glyoxylate aminotransferase", "serine--pyruvate aminotransferase", "serine-pyruvate aminotransferase", "serine:pyruvate aminotransferase" ], "secondaryIds": [ "RGD:736336" ], "genomeLocations": [ { "strand": "+", "endPosition": 240881531, "chromosome": "2", "assembly": "GRCh38", "startPosition": 240868543 } ], "primaryId": "HGNC:341", "crossReferences": [ { "id": "ENSEMBL:ENSG00000172482" }, { "id": "NCBI_Gene:189" }, { "id": "PANTHER:PTHR21152" }, { "id": "UniProtKB:P21549" }, { "pages": [ "gene/references" ], "id": "RGD:736336" }, { "pages": [ "gene" ], "id": "HGNC:341" }, { "id": "RGD:736336" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGXT2", "geneSynopsis": "The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]", "soTermId": "SO:0001217", "name": "alanine--glyoxylate aminotransferase 2", "basicGeneticEntity": { "synonyms": [ "(R)-3-amino-2-methylpropionate--pyruvate transaminase", "AGT2", "BAIBA", "D-3-aminoisobutyrate-pyruvate aminotransferase", "D-beta-aminoisobutyrate-pyruvate aminotransferase", "DAIBAT", "alanine--glyoxylate aminotransferase 2, mitochondrial", "beta-ALAAT II", "beta-alanine-pyruvate aminotransferase" ], "secondaryIds": [ "RGD:1352542" ], "genomeLocations": [ { "strand": "-", "endPosition": 35048240, "chromosome": "5", "assembly": "GRCh38", "startPosition": 34997427 } ], "primaryId": "HGNC:14412", "crossReferences": [ { "id": "ENSEMBL:ENSG00000113492" }, { "id": "NCBI_Gene:64902" }, { "id": "PANTHER:PTHR45688" }, { "id": "UniProtKB:Q9BYV1" }, { "pages": [ "gene/references" ], "id": "RGD:1352542" }, { "pages": [ "gene" ], "id": "HGNC:14412" }, { "id": "RGD:1352542" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AGXT2-AS1", "soTermId": "SO:0001263", "name": "AGXT2 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:630350493" ], "primaryId": "HGNC:59027", "crossReferences": [ { "id": "NCBI_Gene:144667569" }, { "pages": [ "gene/references" ], "id": "RGD:630350493" }, { "pages": [ "gene" ], "id": "HGNC:59027" }, { "id": "RGD:630350493" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHCTF1", "geneSynopsis": "Predicted to enable DNA binding activity. Involved in nuclear pore complex assembly and regulation of cytokinesis. Located in chromosome; nuclear body; and nuclear envelope. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "AT-hook containing transcription factor 1", "basicGeneticEntity": { "synonyms": [ "AT hook containing transcription factor 1", "DKFZp434N093", "ELYS", "ELYS transcription factor like protein TMBS62", "ELYS transcription factor-like protein TMBS62", "MST108", "MSTP108", "TMBS62", "embryonic large molecule derived from yolk sac", "putative AT-hook-containing transcription factor 1" ], "secondaryIds": [ "RGD:1603679" ], "genomeLocations": [ { "strand": "-", "endPosition": 246932063, "chromosome": "1", "assembly": "GRCh38", "startPosition": 246839098 } ], "primaryId": "HGNC:24618", "crossReferences": [ { "id": "ENSEMBL:ENSG00000153207" }, { "id": "NCBI_Gene:25909" }, { "id": "PANTHER:PTHR21583" }, { "id": "UniProtKB:Q8WYP5" }, { "pages": [ "gene/references" ], "id": "RGD:1603679" }, { "pages": [ "gene" ], "id": "HGNC:24618" }, { "id": "RGD:1603679" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHCTF1P1", "geneSynopsis": "INTERACTS WITH bisphenol A", "soTermId": "SO:0000336", "name": "AT-hook containing transcription factor 1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AHCTF1P", "ELYS-like" ], "secondaryIds": [ "RGD:1605826" ], "genomeLocations": [ { "strand": "-", "endPosition": 161507902, "chromosome": "2", "assembly": "GRCh38", "startPosition": 161499067 } ], "primaryId": "HGNC:24620", "crossReferences": [ { "id": "NCBI_Gene:285116" }, { "pages": [ "gene/references" ], "id": "RGD:1605826" }, { "pages": [ "gene" ], "id": "HGNC:24620" }, { "id": "RGD:1605826" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHCY", "geneSynopsis": "S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]", "soTermId": "SO:0001217", "name": "adenosylhomocysteinase", "basicGeneticEntity": { "synonyms": [ "S-adenosyl-L-homocysteine hydrolase", "S-adenosylhomocysteine hydrolase", "SAHH", "adoHcyase" ], "secondaryIds": [ "RGD:731745" ], "genomeLocations": [ { "strand": "-", "endPosition": 34311836, "chromosome": "20", "assembly": "GRCh38", "startPosition": 34231981 } ], "primaryId": "HGNC:343", "crossReferences": [ { "id": "ENSEMBL:ENSG00000101444" }, { "id": "NCBI_Gene:191" }, { "id": "PANTHER:PTHR23420" }, { "id": "UniProtKB:P23526" }, { "pages": [ "gene/references" ], "id": "RGD:731745" }, { "pages": [ "gene" ], "id": "HGNC:343" }, { "id": "RGD:731745" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHCYL1", "geneSynopsis": "The protein encoded by this gene interacts with inositol 1,4,5-trisphosphate receptor, type 1 and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]", "soTermId": "SO:0001217", "name": "adenosylhomocysteinase like 1", "basicGeneticEntity": { "synonyms": [ "DC-expressed AHCY-like molecule", "DCAL", "IP(3)Rs binding protein released with IP(3)", "IRBIT", "PPP1R78", "PRO0233", "S-adenosyl homocysteine hydrolase homolog", "S-adenosyl-L-homocysteine hydrolase 2", "S-adenosylhomocysteine hydrolase-like 1", "S-adenosylhomocysteine hydrolase-like protein 1", "XPVKONA", "adenosylhomocysteinase 2", "adenosylhomocysteinase-like 1", "adoHcyase 2", "dendritic cell expressed AHCY-like protein", "inositol 1,4,5-trisphosphate receptor-binding protein", "putative adenosylhomocysteinase 2" ], "secondaryIds": [ "RGD:1320280" ], "genomeLocations": [ { "strand": "+", "endPosition": 110023742, "chromosome": "1", "assembly": "GRCh38", "startPosition": 109984765 } ], "primaryId": "HGNC:344", "crossReferences": [ { "id": "ENSEMBL:ENSG00000168710" }, { "id": "NCBI_Gene:10768" }, { "id": "PANTHER:PTHR23420" }, { "id": "UniProtKB:O43865" }, { "pages": [ "gene/references" ], "id": "RGD:1320280" }, { "pages": [ "gene" ], "id": "HGNC:344" }, { "id": "RGD:1320280" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHCYL2", "geneSynopsis": "The protein encoded by this gene acts as a homotetramer and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]", "soTermId": "SO:0001217", "name": "adenosylhomocysteinase like 2", "basicGeneticEntity": { "synonyms": [ "ADOHCYASE3", "FLJ21719", "IP(3)Rs binding protein released with IP(3) 2", "IRBIT2", "KIAA0828", "S-adenosyl-L-homocysteine hydrolase 3", "S-adenosylhomocysteine hydrolase-like 2", "adenosylhomocysteinase -like protein 2", "adenosylhomocysteinase 3", "adenosylhomocysteinase-like 2", "long-IRBIT", "putative adenosylhomocysteinase 3" ], "secondaryIds": [ "RGD:1601771" ], "genomeLocations": [ { "strand": "+", "endPosition": 129430211, "chromosome": "7", "assembly": "GRCh38", "startPosition": 129225021 } ], "primaryId": "HGNC:22204", "crossReferences": [ { "id": "ENSEMBL:ENSG00000158467" }, { "id": "NCBI_Gene:23382" }, { "id": "PANTHER:PTHR23420" }, { "id": "UniProtKB:Q96HN2" }, { "pages": [ "gene/references" ], "id": "RGD:1601771" }, { "pages": [ "gene" ], "id": "HGNC:22204" }, { "id": "RGD:1601771" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHCYP1", "soTermId": "SO:0000336", "name": "adenosylhomocysteinase pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:7207657" ], "genomeLocations": [ { "strand": "+", "endPosition": 46224428, "chromosome": "10", "assembly": "GRCh38", "startPosition": 46223058 } ], "primaryId": "HGNC:44993", "crossReferences": [ { "id": "NCBI_Gene:340844" }, { "pages": [ "gene/references" ], "id": "RGD:7207657" }, { "pages": [ "gene" ], "id": "HGNC:44993" }, { "id": "RGD:7207657" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHCYP2", "soTermId": "SO:0000336", "name": "adenosylhomocysteinase pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:7205519" ], "genomeLocations": [ { "strand": "+", "endPosition": 120721980, "chromosome": "9", "assembly": "GRCh38", "startPosition": 120720589 } ], "primaryId": "HGNC:44994", "crossReferences": [ { "id": "ENSEMBL:ENSG00000238181" }, { "id": "NCBI_Gene:392387" }, { "pages": [ "gene/references" ], "id": "RGD:7205519" }, { "pages": [ "gene" ], "id": "HGNC:44994" }, { "id": "RGD:7205519" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHCYP3", "soTermId": "SO:0000336", "name": "adenosylhomocysteinase pseudogene 3", "basicGeneticEntity": { "secondaryIds": [ "RGD:7207589" ], "genomeLocations": [ { "strand": "-", "endPosition": 104396374, "chromosome": "2", "assembly": "GRCh38", "startPosition": 104394992 } ], "primaryId": "HGNC:44995", "crossReferences": [ { "id": "ENSEMBL:ENSG00000233955" }, { "id": "NCBI_Gene:402093" }, { "pages": [ "gene/references" ], "id": "RGD:7207589" }, { "pages": [ "gene" ], "id": "HGNC:44995" }, { "id": "RGD:7207589" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHCYP4", "soTermId": "SO:0000336", "name": "adenosylhomocysteinase pseudogene 4", "basicGeneticEntity": { "secondaryIds": [ "RGD:7205584" ], "genomeLocations": [ { "strand": "-", "endPosition": 138902832, "chromosome": "2", "assembly": "GRCh38", "startPosition": 138901404 } ], "primaryId": "HGNC:44996", "crossReferences": [ { "id": "ENSEMBL:ENSG00000232992" }, { "id": "NCBI_Gene:129560" }, { "pages": [ "gene/references" ], "id": "RGD:7205584" }, { "pages": [ "gene" ], "id": "HGNC:44996" }, { "id": "RGD:7205584" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHCYP5", "soTermId": "SO:0000336", "name": "adenosylhomocysteinase pseudogene 5", "basicGeneticEntity": { "secondaryIds": [ "RGD:7205583" ], "genomeLocations": [ { "strand": "-", "endPosition": 195584123, "chromosome": "2", "assembly": "GRCh38", "startPosition": 195582782 } ], "primaryId": "HGNC:44997", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213107" }, { "id": "NCBI_Gene:391470" }, { "pages": [ "gene/references" ], "id": "RGD:7205583" }, { "pages": [ "gene" ], "id": "HGNC:44997" }, { "id": "RGD:7205583" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHCYP6", "soTermId": "SO:0000336", "name": "adenosylhomocysteinase pseudogene 6", "basicGeneticEntity": { "secondaryIds": [ "RGD:7205585" ], "genomeLocations": [ { "strand": "+", "endPosition": 85859157, "chromosome": "11", "assembly": "GRCh38", "startPosition": 85857001 } ], "primaryId": "HGNC:44998", "crossReferences": [ { "id": "NCBI_Gene:100419714" }, { "pages": [ "gene/references" ], "id": "RGD:7205585" }, { "pages": [ "gene" ], "id": "HGNC:44998" }, { "id": "RGD:7205585" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHCYP7", "geneSynopsis": "INTERACTS WITH cadmium dichloride", "soTermId": "SO:0000336", "name": "adenosylhomocysteinase pseudogene 7", "basicGeneticEntity": { "secondaryIds": [ "RGD:7205587" ], "genomeLocations": [ { "strand": "+", "endPosition": 50418701, "chromosome": "15", "assembly": "GRCh38", "startPosition": 50417289 } ], "primaryId": "HGNC:44999", "crossReferences": [ { "id": "ENSEMBL:ENSG00000259465" }, { "id": "NCBI_Gene:645486" }, { "pages": [ "gene/references" ], "id": "RGD:7205587" }, { "pages": [ "gene" ], "id": "HGNC:44999" }, { "id": "RGD:7205587" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHCYP8", "soTermId": "SO:0000336", "name": "adenosylhomocysteinase pseudogene 8", "basicGeneticEntity": { "secondaryIds": [ "RGD:10450346" ], "genomeLocations": [ { "strand": "-", "endPosition": 248722201, "chromosome": "1", "assembly": "GRCh38", "startPosition": 248721809 } ], "primaryId": "HGNC:45000", "crossReferences": [ { "id": "ENSEMBL:ENSG00000242529" }, { "id": "NCBI_Gene:107063538" }, { "pages": [ "gene/references" ], "id": "RGD:10450346" }, { "pages": [ "gene" ], "id": "HGNC:45000" }, { "id": "RGD:10450346" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHDC1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "AT-hook DNA binding motif containing 1", "basicGeneticEntity": { "synonyms": [ "AT hook, DNA binding motif, containing 1", "AT-hook DNA-binding motif-containing protein 1", "CL23945", "DJ159A19.3", "MRD25", "RP1-159A19.1", "XIGIS", "a.T hook DNA-binding motif-containing protein 1", "transcription factor Gibbin" ], "secondaryIds": [ "RGD:1603658" ], "genomeLocations": [ { "strand": "-", "endPosition": 27604431, "chromosome": "1", "assembly": "GRCh38", "startPosition": 27534035 } ], "primaryId": "HGNC:25230", "crossReferences": [ { "id": "ENSEMBL:ENSG00000126705" }, { "id": "NCBI_Gene:27245" }, { "id": "PANTHER:PTHR15617" }, { "id": "UniProtKB:Q5TGY3" }, { "pages": [ "gene/references" ], "id": "RGD:1603658" }, { "pages": [ "gene" ], "id": "HGNC:25230" }, { "id": "RGD:1603658" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHI1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "Abelson helper integration site 1", "basicGeneticEntity": { "synonyms": [ "AHI-1", "DKFZp686J1653", "FLJ14023", "FLJ20069", "JBTS3", "ORF1", "abelson helper integration site", "abelson helper integration site 1 protein homolog", "contatins SH3 and WD40 domains", "dJ71N10.1", "jouberin" ], "secondaryIds": [ "RGD:1348620" ], "genomeLocations": [ { "strand": "-", "endPosition": 135498434, "chromosome": "6", "assembly": "GRCh38", "startPosition": 135283407 } ], "primaryId": "HGNC:21575", "crossReferences": [ { "id": "ENSEMBL:ENSG00000135541" }, { "id": "NCBI_Gene:54806" }, { "id": "PANTHER:PTHR44499" }, { "id": "UniProtKB:Q8N157" }, { "pages": [ "gene/references" ], "id": "RGD:1348620" }, { "pages": [ "gene" ], "id": "HGNC:21575" }, { "id": "RGD:1348620" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHI1-DT", "geneSynopsis": "INTERACTS WITH butanal; okadaic acid; propanal", "soTermId": "SO:0001263", "name": "AHI1 divergent transcript", "basicGeneticEntity": { "synonyms": [ "C6orf217", "LINC00271", "NCRNA00271", "long intergenic non-protein coding RNA 271" ], "secondaryIds": [ "RGD:2303453" ], "genomeLocations": [ { "strand": "+", "endPosition": 135894890, "chromosome": "6", "assembly": "GRCh38", "startPosition": 135497422 } ], "primaryId": "HGNC:32526", "crossReferences": [ { "id": "ENSEMBL:ENSG00000231028" }, { "id": "NCBI_Gene:100131814" }, { "id": "UniProtKB:P0C7V0" }, { "pages": [ "gene/references" ], "id": "RGD:2303453" }, { "pages": [ "gene" ], "id": "HGNC:32526" }, { "id": "RGD:2303453" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHNAK", "geneSynopsis": "The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016]", "soTermId": "SO:0001217", "name": "AHNAK nucleoprotein", "basicGeneticEntity": { "synonyms": [ "AHNAK-related", "AHNAK1", "AHNAKRS", "MGC5395", "PM227", "ahnak nucleoprotein (desmoyokin)", "desmoyokin", "neuroblast differentiation-associated protein AHNAK" ], "secondaryIds": [ "RGD:1345625" ], "genomeLocations": [ { "strand": "-", "endPosition": 62556235, "chromosome": "11", "assembly": "GRCh38", "startPosition": 62433542 } ], "primaryId": "HGNC:347", "crossReferences": [ { "id": "ENSEMBL:ENSG00000124942" }, { "id": "NCBI_Gene:79026" }, { "id": "PANTHER:PTHR23348" }, { "id": "UniProtKB:Q09666" }, { "pages": [ "gene/references" ], "id": "RGD:1345625" }, { "pages": [ "gene" ], "id": "HGNC:347" }, { "id": "RGD:1345625" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHNAK2", "geneSynopsis": "This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-terminal PSD-95/Discs-large/ZO-1 (PDZ)-like domain is thought to function in the formation of stable homodimers. The encoded protein may play a role in calcium signaling by associating with calcium channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]", "soTermId": "SO:0001217", "name": "AHNAK nucleoprotein 2", "basicGeneticEntity": { "synonyms": [ "C14orf78", "KIAA2019", "chromosome 14 open reading frame 78" ], "secondaryIds": [ "RGD:1320178" ], "genomeLocations": [ { "strand": "-", "endPosition": 104978374, "chromosome": "14", "assembly": "GRCh38", "startPosition": 104937244 } ], "primaryId": "HGNC:20125", "crossReferences": [ { "id": "ENSEMBL:ENSG00000185567" }, { "id": "NCBI_Gene:113146" }, { "id": "PANTHER:PTHR23348" }, { "id": "UniProtKB:Q8IVF2" }, { "pages": [ "gene/references" ], "id": "RGD:1320178" }, { "pages": [ "gene" ], "id": "HGNC:20125" }, { "id": "RGD:1320178" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHR", "geneSynopsis": "The protein encoded by this gene is a ligand-activated helix-loop-helix transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Before ligand binding, the encoded protein is sequestered in the cytoplasm; upon ligand binding, this protein moves to the nucleus and stimulates transcription of target genes. [provided by RefSeq, Sep 2015]", "soTermId": "SO:0001217", "name": "aryl hydrocarbon receptor", "basicGeneticEntity": { "synonyms": [ "AH-receptor", "FVH3", "RP85", "ah receptor", "aromatic hydrocarbon receptor", "bHLHe76", "class E basic helix-loop-helix protein 76" ], "secondaryIds": [ "RGD:731071" ], "genomeLocations": [ { "strand": "+", "endPosition": 17346152, "chromosome": "7", "assembly": "GRCh38", "startPosition": 16916359 } ], "primaryId": "HGNC:348", "crossReferences": [ { "id": "ENSEMBL:ENSG00000106546" }, { "id": "NCBI_Gene:196" }, { "id": "PANTHER:PTHR10649" }, { "id": "UniProtKB:P35869" }, { "pages": [ "gene/references" ], "id": "RGD:731071" }, { "pages": [ "gene" ], "id": "HGNC:348" }, { "id": "RGD:731071" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHRR", "geneSynopsis": "The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]", "soTermId": "SO:0001217", "name": "aryl hydrocarbon receptor repressor", "basicGeneticEntity": { "synonyms": [ "AHH", "AHHR", "KIAA1234", "MGC167813", "MGC176630", "ahR repressor", "aryl hydrocarbon hydroxylase regulator", "aryl hydrocarbon receptor regulator", "aryl-hydrocarbon receptor repressor", "arylhydrocarbon receptor repressor", "bHLHe77", "class E basic helix-loop-helix protein 77", "dioxin receptor repressor" ], "secondaryIds": [ "RGD:1348641" ], "genomeLocations": [ { "strand": "+", "endPosition": 438291, "chromosome": "5", "assembly": "GRCh38", "startPosition": 320682 } ], "primaryId": "HGNC:346", "crossReferences": [ { "id": "ENSEMBL:ENSG00000286169" }, { "id": "ENSEMBL:ENSG00000063438" }, { "id": "NCBI_Gene:57491" }, { "id": "PANTHER:PTHR10649" }, { "id": "UniProtKB:A9YTQ3" }, { "pages": [ "gene/references" ], "id": "RGD:1348641" }, { "pages": [ "gene" ], "id": "HGNC:346" }, { "id": "RGD:1348641" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHSA1", "geneSynopsis": "Enables several functions, including ATPase activator activity; Hsp90 protein binding activity; and unfolded protein binding activity. Involved in maintenance of unfolded protein and positive regulation of ATP-dependent activity. Located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "activator of HSP90 ATPase activity 1", "basicGeneticEntity": { "synonyms": [ "AHA1", "AHA1, activator of heat shock 90kDa protein ATPase homolog 1", "AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)", "C14orf3", "activator of 90 kDa heat shock protein ATPase homolog 1", "hAha1", "p38" ], "secondaryIds": [ "RGD:1346562" ], "genomeLocations": [ { "strand": "+", "endPosition": 77469482, "chromosome": "14", "assembly": "GRCh38", "startPosition": 77457743 } ], "primaryId": "HGNC:1189", "crossReferences": [ { "id": "ENSEMBL:ENSG00000100591" }, { "id": "NCBI_Gene:10598" }, { "id": "PANTHER:PTHR13009" }, { "id": "UniProtKB:O95433" }, { "pages": [ "gene/references" ], "id": "RGD:1346562" }, { "pages": [ "gene" ], "id": "HGNC:1189" }, { "id": "RGD:1346562" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHSA2P", "geneSynopsis": "Predicted to enable ATPase activator activity. Predicted to be involved in protein folding. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0000336", "name": "activator of HSP90 ATPase homolog 2, pseudogene", "basicGeneticEntity": { "synonyms": [ "AHA1", "AHA1, activator of heat shock 90kDa protein ATPase homolog 2", "AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)", "AHSA2", "DKFZp564C236", "FLJ34679", "FLJ41715", "Hch1", "activator of 90 kDa heat shock protein ATPase homolog 2", "activator of HSP90 ATPase homolog 2" ], "secondaryIds": [ "RGD:1316203" ], "genomeLocations": [ { "strand": "+", "endPosition": 61191203, "chromosome": "2", "assembly": "GRCh38", "startPosition": 61177418 } ], "primaryId": "HGNC:20437", "crossReferences": [ { "id": "ENSEMBL:ENSG00000293434" }, { "id": "ENSEMBL:ENSG00000173209" }, { "id": "NCBI_Gene:130872" }, { "id": "PANTHER:PTHR13009" }, { "id": "UniProtKB:Q719I0" }, { "pages": [ "gene/references" ], "id": "RGD:1316203" }, { "pages": [ "gene" ], "id": "HGNC:20437" }, { "id": "RGD:1316203" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHSG", "geneSynopsis": "The protein encoded by this gene is a negatively-charged serum glycoprotein that is synthesized by hepatocytes. The encoded protein consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several processes, including endocytosis, brain development, and the formation of bone tissue. Defects in this gene are a cause of susceptibility to leanness. [provided by RefSeq, Aug 2017]", "soTermId": "SO:0001217", "name": "alpha 2-HS glycoprotein", "basicGeneticEntity": { "synonyms": [ "A2HS", "AHS", "APMR1", "FETUA", "HSGA", "alpha-2-HS-glycoprotein", "alpha-2-Z-globulin", "ba-alpha-2-glycoprotein", "fetuin A", "fetuin-A" ], "secondaryIds": [ "RGD:736027" ], "genomeLocations": [ { "strand": "+", "endPosition": 186621318, "chromosome": "3", "assembly": "GRCh38", "startPosition": 186612776 } ], "primaryId": "HGNC:349", "crossReferences": [ { "id": "ENSEMBL:ENSG00000145192" }, { "id": "NCBI_Gene:197" }, { "id": "PANTHER:PTHR13814" }, { "id": "UniProtKB:P02765" }, { "pages": [ "gene/references" ], "id": "RGD:736027" }, { "pages": [ "gene" ], "id": "HGNC:349" }, { "id": "RGD:736027" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AHSP", "geneSynopsis": "This gene encodes a molecular chaperone which binds specifically to free alpha-globin and is involved in hemoglobin assembly. The encoded protein binds to monomeric alpha-globin until it has been transferred to beta-globin to form a heterodimer, which in turn binds to another heterodimer to form the stable tetrameric hemoglobin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]", "soTermId": "SO:0001217", "name": "alpha hemoglobin stabilizing protein", "basicGeneticEntity": { "synonyms": [ "EDRF", "ERAF", "alpha hemoglobin stabilising protein", "alpha-hemoglobin-stabilizing protein", "erythroid associated factor", "erythroid differentiation associated factor", "erythroid differentiation-related factor", "erythroid-associated factor" ], "secondaryIds": [ "RGD:1315507" ], "genomeLocations": [ { "strand": "+", "endPosition": 31528803, "chromosome": "16", "assembly": "GRCh38", "startPosition": 31527876 } ], "primaryId": "HGNC:18075", "crossReferences": [ { "id": "ENSEMBL:ENSG00000169877" }, { "id": "NCBI_Gene:51327" }, { "id": "PANTHER:PTHR15914" }, { "id": "UniProtKB:Q9NZD4" }, { "pages": [ "gene/references" ], "id": "RGD:1315507" }, { "pages": [ "gene" ], "id": "HGNC:18075" }, { "id": "RGD:1315507" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AICDA", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "activation induced cytidine deaminase", "basicGeneticEntity": { "synonyms": [ "AID", "ARP2", "CDA2", "HEL-S-284", "HIGM2", "activation-induced cytidine deaminase", "cytidine aminohydrolase", "epididymis secretory protein Li 284", "integrated into Burkitt's lymphoma cell line Ramos", "single-stranded DNA cytosine deaminase" ], "secondaryIds": [ "RGD:1347771" ], "genomeLocations": [ { "strand": "-", "endPosition": 8613242, "chromosome": "12", "assembly": "GRCh38", "startPosition": 8602155 } ], "primaryId": "HGNC:13203", "crossReferences": [ { "id": "ENSEMBL:ENSG00000111732" }, { "id": "NCBI_Gene:57379" }, { "id": "PANTHER:PTHR13857" }, { "id": "UniProtKB:Q9GZX7" }, { "pages": [ "gene/references" ], "id": "RGD:1347771" }, { "pages": [ "gene" ], "id": "HGNC:13203" }, { "id": "RGD:1347771" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AIDA", "geneSynopsis": "Predicted to enable phosphatidylinositol binding activity. Acts upstream of or within negative regulation of JUN kinase activity. Predicted to be located in cytoplasm. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "axin interactor, dorsalization associated", "basicGeneticEntity": { "synonyms": [ "C1orf80", "FLJ12806", "FLJ32421", "RP11-378J18.7", "axin interaction partner and dorsalization antagonist", "axin interactor, dorsalization-associated protein" ], "secondaryIds": [ "RGD:1603969" ], "genomeLocations": [ { "strand": "-", "endPosition": 222713210, "chromosome": "1", "assembly": "GRCh38", "startPosition": 222668013 } ], "primaryId": "HGNC:25761", "crossReferences": [ { "id": "ENSEMBL:ENSG00000186063" }, { "id": "NCBI_Gene:64853" }, { "id": "PANTHER:PTHR28654" }, { "id": "UniProtKB:Q96BJ3" }, { "pages": [ "gene/references" ], "id": "RGD:1603969" }, { "pages": [ "gene" ], "id": "HGNC:25761" }, { "id": "RGD:1603969" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AIDAP1", "soTermId": "SO:0000336", "name": "AIDA pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:15036921" ], "genomeLocations": [ { "strand": "+", "endPosition": 11309138, "chromosome": "2", "assembly": "GRCh38", "startPosition": 11307866 } ], "primaryId": "HGNC:54663", "crossReferences": [ { "id": "NCBI_Gene:646050" }, { "pages": [ "gene/references" ], "id": "RGD:15036921" }, { "pages": [ "gene" ], "id": "HGNC:54663" }, { "id": "RGD:15036921" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AIDAP2", "soTermId": "SO:0000336", "name": "AIDA pseudogene 2", "basicGeneticEntity": { "synonyms": [ "AC098679.2", "axin interactor, dorsalization associated (AIDA) pseudogene" ], "secondaryIds": [ "RGD:15036922" ], "genomeLocations": [ { "strand": "+", "endPosition": 158278873, "chromosome": "4", "assembly": "GRCh38", "startPosition": 158277730 } ], "primaryId": "HGNC:54664", "crossReferences": [ { "id": "ENSEMBL:ENSG00000251429" }, { "id": "NCBI_Gene:646890" }, { "pages": [ "gene/references" ], "id": "RGD:15036922" }, { "pages": [ "gene" ], "id": "HGNC:54664" }, { "id": "RGD:15036922" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AIDAP3", "soTermId": "SO:0000336", "name": "AIDA pseudogene 3", "basicGeneticEntity": { "secondaryIds": [ "RGD:15036910" ], "genomeLocations": [ { "strand": "-", "endPosition": 1929249, "chromosome": "18", "assembly": "GRCh38", "startPosition": 1927599 } ], "primaryId": "HGNC:54665", "crossReferences": [ { "id": "NCBI_Gene:100128360" }, { "pages": [ "gene/references" ], "id": "RGD:15036910" }, { "pages": [ "gene" ], "id": "HGNC:54665" }, { "id": "RGD:15036910" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AIF1", "geneSynopsis": "This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of some of these variants is not certain. [provided by RefSeq, Jan 2016]", "soTermId": "SO:0001217", "name": "allograft inflammatory factor 1", "basicGeneticEntity": { "synonyms": [ "AIF-1", "IBA1", "IRT-1", "IRT1", "allograft inflammatory factor-1 splice variant Hara-1", "interferon gamma responsive transcript", "ionized calcium-binding adapter molecule 1", "protein G1" ], "secondaryIds": [ "RGD:735562" ], "genomeLocations": [ { "strand": "+", "endPosition": 31617021, "chromosome": "6", "assembly": "GRCh38", "startPosition": 31615217 } ], "primaryId": "HGNC:352", "crossReferences": [ { "id": "ENSEMBL:ENSG00000235588" }, { "id": "ENSEMBL:ENSG00000204472" }, { "id": "ENSEMBL:ENSG00000206428" }, { "id": "ENSEMBL:ENSG00000237727" }, { "id": "ENSEMBL:ENSG00000235985" }, { "id": "ENSEMBL:ENSG00000234836" }, { "id": "NCBI_Gene:199" }, { "id": "PANTHER:PTHR10356" }, { "id": "UniProtKB:P55008" }, { "pages": [ "gene/references" ], "id": "RGD:735562" }, { "pages": [ "gene" ], "id": "HGNC:352" }, { "id": "RGD:735562" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AIF1L", "geneSynopsis": "Enables actin filament binding activity. Predicted to be involved in actin filament bundle assembly and ruffle assembly. Located in actin filament and focal adhesion. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "allograft inflammatory factor 1 like", "basicGeneticEntity": { "synonyms": [ "C9orf58", "FLJ12783", "IBA2", "MGC29466", "allograft inflammatory factor 1-like", "ionized calcium binding adapter molecule 2", "ionized calcium-binding adapter molecule 2" ], "secondaryIds": [ "RGD:1312901" ], "genomeLocations": [ { "strand": "+", "endPosition": 131123152, "chromosome": "9", "assembly": "GRCh38", "startPosition": 131096476 } ], "primaryId": "HGNC:28904", "crossReferences": [ { "id": "ENSEMBL:ENSG00000126878" }, { "id": "NCBI_Gene:83543" }, { "id": "PANTHER:PTHR10356" }, { "id": "UniProtKB:Q9BQI0" }, { "pages": [ "gene/references" ], "id": "RGD:1312901" }, { "pages": [ "gene" ], "id": "HGNC:28904" }, { "id": "RGD:1312901" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AIFM1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "apoptosis inducing factor mitochondria associated 1", "basicGeneticEntity": { "synonyms": [ "AIF", "AUNX1", "CMT2D", "CMTX4", "COWCK", "COXPD6", "DFNX5", "MGC111425", "NADMR", "NAMSD", "Neuropathy, axonal motor-sensory, with deafness and mental retardation", "PDCD8", "SEMDHL", "apoptosis inducing factor, mitochondria associated 1", "apoptosis-inducing factor 1, mitochondrial", "apoptosis-inducing factor, mitochondrion-associated, 1", "auditory neuropathy, X-linked recessive 1", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)", "programmed cell death 8 (apoptosis-inducing factor)", "striatal apoptosis-inducing factor", "testicular secretory protein Li 4" ], "secondaryIds": [ "RGD:731380" ], "genomeLocations": [ { "strand": "-", "endPosition": 130165879, "chromosome": "X", "assembly": "GRCh38", "startPosition": 130124666 } ], "primaryId": "HGNC:8768", "crossReferences": [ { "id": "ENSEMBL:ENSG00000156709" }, { "id": "NCBI_Gene:9131" }, { "id": "PANTHER:PTHR43557" }, { "id": "UniProtKB:O95831" }, { "pages": [ "gene/references" ], "id": "RGD:731380" }, { "pages": [ "gene" ], "id": "HGNC:8768" }, { "id": "RGD:731380" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AIFM1P1", "soTermId": "SO:0000336", "name": "AIFM1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "apoptosis inducing factor, mitochondria associated 1 pseudogene 1" ], "secondaryIds": [ "RGD:7205112" ], "genomeLocations": [ { "strand": "+", "endPosition": 18738839, "chromosome": "10", "assembly": "GRCh38", "startPosition": 18735675 } ], "primaryId": "HGNC:44884", "crossReferences": [ { "id": "ENSEMBL:ENSG00000225509" }, { "id": "NCBI_Gene:645120" }, { "pages": [ "gene/references" ], "id": "RGD:7205112" }, { "pages": [ "gene" ], "id": "HGNC:44884" }, { "id": "RGD:7205112" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AIFM2", "geneSynopsis": "This gene encodes a flavoprotein oxidoreductase that binds single stranded DNA and is thought to contribute to apoptosis in the presence of bacterial and viral DNA. The expression of this gene is also found to be induced by tumor suppressor protein p53 in colon cancer cells. [provided by RefSeq, Nov 2010]", "soTermId": "SO:0001217", "name": "AIF family member 2, ferroptosis suppressor", "basicGeneticEntity": { "synonyms": [ "5430437E11Rik", "AIF family member 2", "AMID", "DKFZp686L1298", "FSP1", "PRG3", "RP11-367H5.2", "apoptosis inducing factor mitochondria associated 2", "apoptosis inducing factor, mitochondria associated 2", "apoptosis-inducing factor (AIF)-homologous mitochondrion-associated inducer of death", "apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death", "apoptosis-inducing factor 2", "apoptosis-inducing factor homologous mitochondrion-associated inducer of death", "apoptosis-inducing factor, mitochondrion-associated, 2", "ferroptosis suppressor 1", "ferroptosis suppressor protein 1", "p53-responsive gene 3 protein" ], "secondaryIds": [ "RGD:1312709" ], "genomeLocations": [ { "strand": "-", "endPosition": 70133269, "chromosome": "10", "assembly": "GRCh38", "startPosition": 70097053 } ], "primaryId": "HGNC:21411", "crossReferences": [ { "id": "ENSEMBL:ENSG00000042286" }, { "id": "NCBI_Gene:84883" }, { "id": "PANTHER:PTHR43735" }, { "id": "UniProtKB:Q9BRQ8" }, { "pages": [ "gene/references" ], "id": "RGD:1312709" }, { "pages": [ "gene" ], "id": "HGNC:21411" }, { "id": "RGD:1312709" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AIFM3", "geneSynopsis": "Predicted to enable oxidoreductase activity, acting on NAD(P)H. Involved in execution phase of apoptosis. Located in cytosol; endoplasmic reticulum; and mitochondrial inner membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "AIF family member 3", "basicGeneticEntity": { "synonyms": [ "AIFL", "FLJ30473", "FLJ45137", "apoptosis inducing factor mitochondria associated 3", "apoptosis inducing factor, mitochondria associated 3", "apoptosis-inducing factor 3", "apoptosis-inducing factor like", "apoptosis-inducing factor, mitochondrion-associated, 3", "apoptosis-inducing factor-like protein" ], "secondaryIds": [ "RGD:1604991" ], "genomeLocations": [ { "strand": "+", "endPosition": 20981364, "chromosome": "22", "assembly": "GRCh38", "startPosition": 20965108 } ], "primaryId": "HGNC:26398", "crossReferences": [ { "id": "ENSEMBL:ENSG00000183773" }, { "id": "NCBI_Gene:150209" }, { "id": "PANTHER:PTHR43557" }, { "id": "UniProtKB:Q96NN9" }, { "pages": [ "gene/references" ], "id": "RGD:1604991" }, { "pages": [ "gene" ], "id": "HGNC:26398" }, { "id": "RGD:1604991" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AIG1", "geneSynopsis": "Enables hydrolase activity. Involved in long-chain fatty acid catabolic process. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "androgen induced 1", "basicGeneticEntity": { "synonyms": [ "AIG-1", "DKFZp686F03136", "FAHFA hydrolase AIG1", "FLJ10485", "RP1-95L4.1", "androgen induced protein (AIG-1), C-terminus truncated", "androgen-induced 1", "androgen-induced gene 1 protein", "dJ95L4.1", "fatty acid esters of hydroxy fatty acids hydrolase AIG1" ], "secondaryIds": [ "RGD:1346084" ], "genomeLocations": [ { "strand": "+", "endPosition": 143343883, "chromosome": "6", "assembly": "GRCh38", "startPosition": 143059213 } ], "primaryId": "HGNC:21607", "crossReferences": [ { "id": "ENSEMBL:ENSG00000146416" }, { "id": "NCBI_Gene:51390" }, { "id": "PANTHER:PTHR10989" }, { "id": "UniProtKB:Q9NVV5" }, { "pages": [ "gene/references" ], "id": "RGD:1346084" }, { "pages": [ "gene" ], "id": "HGNC:21607" }, { "id": "RGD:1346084" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AIG1P1", "soTermId": "SO:0000336", "name": "androgen induced 1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "androgen-induced 1 pseudogene 1" ], "secondaryIds": [ "RGD:10400161" ], "genomeLocations": [ { "strand": "+", "endPosition": 39022558, "chromosome": "5", "assembly": "GRCh38", "startPosition": 39022411 } ], "primaryId": "HGNC:43926", "crossReferences": [ { "id": "ENSEMBL:ENSG00000249089" }, { "id": "NCBI_Gene:106479028" }, { "pages": [ "gene/references" ], "id": "RGD:10400161" }, { "pages": [ "gene" ], "id": "HGNC:43926" }, { "id": "RGD:10400161" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AIM2", "geneSynopsis": "AIM2 is a member of the IFI20X /IFI16 family. It plays a putative role in tumorigenic reversion and may control cell proliferation. Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "absent in melanoma 2", "basicGeneticEntity": { "synonyms": [ "LOC105371461", "PYHIN4", "interferon-inducible protein AIM2", "uncharacterized LOC105371461" ], "secondaryIds": [ "RGD:1316387" ], "genomeLocations": [ { "strand": "-", "endPosition": 159188222, "chromosome": "1", "assembly": "GRCh38", "startPosition": 159055051 } ], "primaryId": "HGNC:357", "crossReferences": [ { "id": "ENSEMBL:ENSG00000163568" }, { "id": "NCBI_Gene:9447" }, { "id": "PANTHER:PTHR12200" }, { "id": "UniProtKB:O14862" }, { "pages": [ "gene/references" ], "id": "RGD:1316387" }, { "pages": [ "gene" ], "id": "HGNC:357" }, { "id": "RGD:1316387" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AIMP1", "geneSynopsis": "The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavage in tumor cells. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2008]", "soTermId": "SO:0001217", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "basicGeneticEntity": { "synonyms": [ "ARS-interacting multifunctional protein 1", "EMAP2", "EMAPII", "HLD3", "SCYE1", "aminoacyl tRNA synthase complex-interacting multifunctional protein 1", "aminoacyl tRNA synthetase complex-interacting multifunctional protein 1", "endothelial monocyte-activating polypeptide 2", "endothelial-monocyte activating polypeptide II", "multisynthase complex auxiliary component p43", "multisynthetase complex auxiliary component p43", "p43", "small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)" ], "secondaryIds": [ "RGD:1344147" ], "genomeLocations": [ { "strand": "+", "endPosition": 106349456, "chromosome": "4", "assembly": "GRCh38", "startPosition": 106315544 } ], "primaryId": "HGNC:10648", "crossReferences": [ { "id": "ENSEMBL:ENSG00000164022" }, { "id": "NCBI_Gene:9255" }, { "id": "PANTHER:PTHR11586" }, { "id": "UniProtKB:Q12904" }, { "pages": [ "gene/references" ], "id": "RGD:1344147" }, { "pages": [ "gene" ], "id": "HGNC:10648" }, { "id": "RGD:1344147" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AIMP1P1", "geneSynopsis": "INTERACTS WITH thiram", "soTermId": "SO:0000336", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "SCYE1P", "aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 pseudogene 1", "bA400P21.1" ], "secondaryIds": [ "RGD:1352273" ], "genomeLocations": [ { "strand": "+", "endPosition": 14128413, "chromosome": "20", "assembly": "GRCh38", "startPosition": 14127396 } ], "primaryId": "HGNC:16543", "crossReferences": [ { "id": "ENSEMBL:ENSG00000234187" }, { "id": "NCBI_Gene:170547" }, { "pages": [ "gene/references" ], "id": "RGD:1352273" }, { "pages": [ "gene" ], "id": "HGNC:16543" }, { "id": "RGD:1352273" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AIMP1P2", "soTermId": "SO:0000336", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 pseudogene 2" ], "secondaryIds": [ "RGD:6480382" ], "genomeLocations": [ { "strand": "-", "endPosition": 172886258, "chromosome": "1", "assembly": "GRCh38", "startPosition": 172885866 } ], "primaryId": "HGNC:43693", "crossReferences": [ { "id": "ENSEMBL:ENSG00000227177" }, { "id": "NCBI_Gene:100873064" }, { "pages": [ "gene/references" ], "id": "RGD:6480382" }, { "pages": [ "gene" ], "id": "HGNC:43693" }, { "id": "RGD:6480382" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AIMP2", "geneSynopsis": "The protein encoded by this gene is part of the aminoacyl-tRNA synthetase complex, which contains nine different aminoacyl-tRNA synthetases and three non-enzymatic factors. The encoded protein is one of the non-enzymatic factors and is required for assembly and stability of the complex. [provided by RefSeq, May 2016]", "soTermId": "SO:0001217", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "basicGeneticEntity": { "synonyms": [ "ARS-interacting multi-functional protein 2", "HLD17", "JTV-1", "JTV1", "P38", "PRO0992", "aminoacyl tRNA synthase complex-interacting multifunctional protein 2", "aminoacyl tRNA synthetase complex-interacting multifunctional protein 2", "multisynthase complex auxiliary component p38", "multisynthetase complex auxiliary component p38" ], "secondaryIds": [ "RGD:1603320" ], "genomeLocations": [ { "strand": "+", "endPosition": 6023834, "chromosome": "7", "assembly": "GRCh38", "startPosition": 6009255 } ], "primaryId": "HGNC:20609", "crossReferences": [ { "id": "ENSEMBL:ENSG00000106305" }, { "id": "NCBI_Gene:7965" }, { "id": "PANTHER:PTHR13438" }, { "id": "UniProtKB:Q13155" }, { "pages": [ "gene/references" ], "id": "RGD:1603320" }, { "pages": [ "gene" ], "id": "HGNC:20609" }, { "id": "RGD:1603320" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AIP", "geneSynopsis": "The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. This protein can regulate the expression of many xenobiotic metabolizing enzymes. Also, the encoded protein can bind specifically to and inhibit the activity of hepatitis B virus. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]", "soTermId": "SO:0001217", "name": "AHR interacting HSP90 co-chaperone", "basicGeneticEntity": { "synonyms": [ "AH receptor-interacting protein", "ARA9", "Ah receptor activated 9", "FK506-binding protein 37", "FKBP prolyl isomerase 16", "FKBP16", "FKBP37", "HBV X-associated protein 2", "HBV-X associated protein", "PITA1", "SMTPHN", "X-associated protein-2", "XAP-2", "XAP2", "aryl hydrocarbon receptor interacting protein", "aryl hydrocarbon receptor-associated protein 9", "aryl hydrocarbon receptor-interacting protein", "aryl-hydrocarbon receptor interacting protein", "aryl-hydrocarbon receptor-interacting protein", "hepatitis B virus X-associated cellular protein 2", "immunophilin homolog ARA9" ], "secondaryIds": [ "RGD:1354071" ], "genomeLocations": [ { "strand": "+", "endPosition": 67491154, "chromosome": "11", "assembly": "GRCh38", "startPosition": 67468174 } ], "primaryId": "HGNC:358", "crossReferences": [ { "id": "ENSEMBL:ENSG00000110711" }, { "id": "NCBI_Gene:9049" }, { "id": "PANTHER:PTHR11242" }, { "id": "UniProtKB:O00170" }, { "pages": [ "gene/references" ], "id": "RGD:1354071" }, { "pages": [ "gene" ], "id": "HGNC:358" }, { "id": "RGD:1354071" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AIPL1", "geneSynopsis": "Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]", "soTermId": "SO:0001217", "name": "AIP like 1 HSP90 co-chaperone", "basicGeneticEntity": { "synonyms": [ "AIPL2", "LCA4", "aryl hydrocarbon receptor interacting protein like 1", "aryl hydrocarbon receptor interacting protein-like 1", "aryl hydrocarbon receptor-interacting protein-like 1", "aryl-hydrocarbon-interacting protein-like 1" ], "secondaryIds": [ "RGD:735610" ], "genomeLocations": [ { "strand": "-", "endPosition": 6435199, "chromosome": "17", "assembly": "GRCh38", "startPosition": 6393693 } ], "primaryId": "HGNC:359", "crossReferences": [ { "id": "ENSEMBL:ENSG00000129221" }, { "id": "NCBI_Gene:23746" }, { "id": "PANTHER:PTHR11242" }, { "id": "UniProtKB:Q9NZN9" }, { "pages": [ "gene/references" ], "id": "RGD:735610" }, { "pages": [ "gene" ], "id": "HGNC:359" }, { "id": "RGD:735610" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AIRE", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "autoimmune regulator", "basicGeneticEntity": { "synonyms": [ "AIRE1", "APECED", "APS1", "APSI", "PGA1", "autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein", "autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)" ], "secondaryIds": [ "RGD:1322440" ], "genomeLocations": [ { "strand": "+", "endPosition": 44298648, "chromosome": "21", "assembly": "GRCh38", "startPosition": 44285838 } ], "primaryId": "HGNC:360", "crossReferences": [ { "id": "ENSEMBL:ENSG00000160224" }, { "id": "NCBI_Gene:326" }, { "id": "PANTHER:PTHR46386" }, { "id": "UniProtKB:O43918" }, { "pages": [ "gene/references" ], "id": "RGD:1322440" }, { "pages": [ "gene" ], "id": "HGNC:360" }, { "id": "RGD:1322440" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AIRIM", "geneSynopsis": "Involved in ribosomal large subunit biogenesis. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "AFG2 interacting ribosome maturation factor", "basicGeneticEntity": { "synonyms": [ "AFG2-interacting ribosome maturation factor", "C1orf109", "FLJ20508", "chromosome 1 open reading frame 109", "hypothetical protein LOC54955", "ribosome biogenesis protein C1orf109", "uncharacterized protein C1orf109" ], "secondaryIds": [ "RGD:1606277" ], "genomeLocations": [ { "strand": "-", "endPosition": 37692296, "chromosome": "1", "assembly": "GRCh38", "startPosition": 37681570 } ], "primaryId": "HGNC:26039", "crossReferences": [ { "id": "ENSEMBL:ENSG00000116922" }, { "id": "NCBI_Gene:54955" }, { "id": "PANTHER:PTHR16234" }, { "id": "UniProtKB:Q9NX04" }, { "pages": [ "gene/references" ], "id": "RGD:1606277" }, { "pages": [ "gene" ], "id": "HGNC:26039" }, { "id": "RGD:1606277" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AIRN", "geneSynopsis": "Both spliced and un-spliced long non-coding RNAs are transcribed from this gene. This gene overlaps on the opposite strand the second intron of the insulin-like growth factor 2 receptor gene; a CpG island associated with the second intron denotes an active promoter that drives the expression of this gene. The related mouse gene is responsible for silencing the insulin-like growth factor 2 receptor gene and flanking genes in the imprinted gene cluster of mice. This gene may be expressed in Wilms tumors. [provided by RefSeq, Feb 2013]", "soTermId": "SO:0001263", "name": "antisense of IGF2R non-protein coding RNA", "basicGeneticEntity": { "synonyms": [ "AIR", "IGF2R-AS", "IGF2R-AS1", "IGF2RAS", "NCRNA00088" ], "secondaryIds": [ "RGD:2306132" ], "genomeLocations": [ { "strand": "-", "endPosition": 160007664, "chromosome": "6", "assembly": "GRCh38", "startPosition": 160002409 } ], "primaryId": "HGNC:34515", "crossReferences": [ { "id": "ENSEMBL:ENSG00000268257" }, { "id": "NCBI_Gene:100271873" }, { "pages": [ "gene/references" ], "id": "RGD:2306132" }, { "pages": [ "gene" ], "id": "HGNC:34515" }, { "id": "RGD:2306132" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AJAP1", "geneSynopsis": "Enables beta-catenin binding activity. Involved in negative regulation of cell-matrix adhesion; negative regulation of wound healing; and regulation of polarized epithelial cell differentiation. Located in several cellular components, including adherens junction; basolateral plasma membrane; and cell-cell contact zone. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "adherens junctions associated protein 1", "basicGeneticEntity": { "synonyms": [ "MOT8", "RP3-426F10.1", "SHREW-1", "SHREW1", "adherens junction associated protein 1", "adherens junction-associated protein 1", "membrane protein shrew-1", "transmembrane protein SHREW1" ], "secondaryIds": [ "RGD:1603390" ], "genomeLocations": [ { "strand": "+", "endPosition": 4792534, "chromosome": "1", "assembly": "GRCh38", "startPosition": 4654609 } ], "primaryId": "HGNC:30801", "crossReferences": [ { "id": "ENSEMBL:ENSG00000196581" }, { "id": "NCBI_Gene:55966" }, { "id": "PANTHER:PTHR32422" }, { "id": "UniProtKB:Q9UKB5" }, { "pages": [ "gene/references" ], "id": "RGD:1603390" }, { "pages": [ "gene" ], "id": "HGNC:30801" }, { "id": "RGD:1603390" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AJM1", "geneSynopsis": "Predicted to be involved in cell-cell junction organization. Predicted to be located in adherens junction; apical plasma membrane; and cilium. Predicted to be active in apical junction complex and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "apical junction component 1 homolog", "basicGeneticEntity": { "synonyms": [ "C9orf172", "ajm-1", "chromosome 9 open reading frame 172", "uncharacterized protein C9orf172" ], "secondaryIds": [ "RGD:3302853" ], "genomeLocations": [ { "strand": "+", "endPosition": 136848801, "chromosome": "9", "assembly": "GRCh38", "startPosition": 136842478 } ], "primaryId": "HGNC:37284", "crossReferences": [ { "id": "ENSEMBL:ENSG00000232434" }, { "id": "NCBI_Gene:389813" }, { "id": "PANTHER:PTHR21517" }, { "id": "UniProtKB:C9J069" }, { "pages": [ "gene/references" ], "id": "RGD:3302853" }, { "pages": [ "gene" ], "id": "HGNC:37284" }, { "id": "RGD:3302853" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AJUBA", "geneSynopsis": "Enables alpha-catenin binding activity and transcription corepressor activity. Involved in several processes, including miRNA-mediated gene silencing by inhibition of translation; negative regulation of hippo signaling; and regulation of cellular response to hypoxia. Acts upstream of or within miRNA-mediated post-transcriptional gene silencing and positive regulation of protein-containing complex assembly. Located in several cellular components, including Golgi apparatus; P-body; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ajuba LIM protein", "basicGeneticEntity": { "synonyms": [ "JUB", "LIM domain-containing protein ajuba", "MGC15563", "jub, ajuba homolog" ], "secondaryIds": [ "RGD:1343876" ], "genomeLocations": [ { "strand": "-", "endPosition": 22982551, "chromosome": "14", "assembly": "GRCh38", "startPosition": 22971177 } ], "primaryId": "HGNC:20250", "crossReferences": [ { "id": "ENSEMBL:ENSG00000129474" }, { "id": "NCBI_Gene:84962" }, { "id": "PANTHER:PTHR24219" }, { "id": "UniProtKB:Q96IF1" }, { "pages": [ "gene/references" ], "id": "RGD:1343876" }, { "pages": [ "gene" ], "id": "HGNC:20250" }, { "id": "RGD:1343876" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AJUBA-DT", "soTermId": "SO:0001263", "name": "AJUBA divergent transcript", "basicGeneticEntity": { "synonyms": [ "AL132780.2", "LOC107984660", "novel transcript, antisense to C14orf93", "uncharacterized LOC107984660" ], "secondaryIds": [ "RGD:16561685" ], "genomeLocations": [ { "strand": "+", "endPosition": 23006709, "chromosome": "14", "assembly": "GRCh38", "startPosition": 22977979 } ], "primaryId": "HGNC:55449", "crossReferences": [ { "id": "ENSEMBL:ENSG00000258457" }, { "id": "NCBI_Gene:107984660" }, { "pages": [ "gene/references" ], "id": "RGD:16561685" }, { "pages": [ "gene" ], "id": "HGNC:55449" }, { "id": "RGD:16561685" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK1", "geneSynopsis": "This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene shares readthrough transcripts with the upstream ST6GALNAC6 gene. [provided by RefSeq, Jan 2022]", "soTermId": "SO:0001217", "name": "adenylate kinase 1", "basicGeneticEntity": { "synonyms": [ "ADK", "AK 1", "ATP-AMP transphosphorylase 1", "ATP:AMP phosphotransferase", "Adk1", "CNSHA3", "HTL-S-58j", "adenylate kinase isoenzyme 1", "adenylate monophosphate kinase", "myokinase", "testis secretory sperm binding protein Li 58j" ], "secondaryIds": [ "RGD:736701" ], "genomeLocations": [ { "strand": "-", "endPosition": 127879621, "chromosome": "9", "assembly": "GRCh38", "startPosition": 127866480 } ], "primaryId": "HGNC:361", "crossReferences": [ { "id": "ENSEMBL:ENSG00000106992" }, { "id": "NCBI_Gene:203" }, { "id": "PANTHER:PTHR23359" }, { "id": "UniProtKB:P00568" }, { "pages": [ "gene/references" ], "id": "RGD:736701" }, { "pages": [ "gene" ], "id": "HGNC:361" }, { "id": "RGD:736701" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK2", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "adenylate kinase 2", "basicGeneticEntity": { "synonyms": [ "ADK2", "AK 2", "ATP-AMP transphosphorylase 2", "ATP:AMP phosphotransferase", "adenylate kinase 2, mitochondrial", "adenylate kinase isoenzyme 2, mitochondrial", "adenylate monophosphate kinase", "testis secretory sperm-binding protein Li 220n" ], "secondaryIds": [ "RGD:735291" ], "genomeLocations": [ { "strand": "-", "endPosition": 33080996, "chromosome": "1", "assembly": "GRCh38", "startPosition": 33007940 } ], "primaryId": "HGNC:362", "crossReferences": [ { "id": "ENSEMBL:ENSG00000004455" }, { "id": "NCBI_Gene:204" }, { "id": "PANTHER:PTHR23359" }, { "id": "UniProtKB:P54819" }, { "pages": [ "gene/references" ], "id": "RGD:735291" }, { "pages": [ "gene" ], "id": "HGNC:362" }, { "id": "RGD:735291" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK2-AS1", "soTermId": "SO:0001263", "name": "AK2 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:616940326" ], "primaryId": "HGNC:58388", "crossReferences": [ { "id": "NCBI_Gene:141585755" }, { "pages": [ "gene/references" ], "id": "RGD:616940326" }, { "pages": [ "gene" ], "id": "HGNC:58388" }, { "id": "RGD:616940326" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK2P1", "soTermId": "SO:0000336", "name": "adenylate kinase 2 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AK2B", "AL035411.1", "adenylate kinase 2 (AK2) pseudogene" ], "secondaryIds": [ "RGD:1626587" ], "genomeLocations": [ { "strand": "-", "endPosition": 58631578, "chromosome": "1", "assembly": "GRCh38", "startPosition": 58630841 } ], "primaryId": "HGNC:24037", "crossReferences": [ { "id": "ENSEMBL:ENSG00000185839" }, { "id": "NCBI_Gene:266920" }, { "pages": [ "gene/references" ], "id": "RGD:1626587" }, { "pages": [ "gene" ], "id": "HGNC:24037" }, { "id": "RGD:1626587" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK2P2", "soTermId": "SO:0000336", "name": "adenylate kinase 2 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:1626554" ], "genomeLocations": [ { "strand": "-", "endPosition": 31823830, "chromosome": "2", "assembly": "GRCh38", "startPosition": 31823413 } ], "primaryId": "HGNC:33542", "crossReferences": [ { "id": "ENSEMBL:ENSG00000242272" }, { "id": "NCBI_Gene:339736" }, { "pages": [ "gene/references" ], "id": "RGD:1626554" }, { "pages": [ "gene" ], "id": "HGNC:33542" }, { "id": "RGD:1626554" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK3", "geneSynopsis": "The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]", "soTermId": "SO:0001217", "name": "adenylate kinase 3", "basicGeneticEntity": { "synonyms": [ "AK 3", "AK3L1", "AK6", "AKL3L", "AKL3L1", "FIX", "GTP:AMP phosphotransferase AK3, mitochondrial", "GTP:AMP phosphotransferase mitochondrial", "GTP:AMP phosphotransferase, mitochondrial", "adenylate kinase 3 alpha like", "adenylate kinase 3 alpha-like 1", "adenylate kinase 3 like 1", "adenylate kinase 6, adenylate kinase 3 like 1", "adenylate kinase isozyme 3" ], "secondaryIds": [ "RGD:737588" ], "genomeLocations": [ { "strand": "-", "endPosition": 4742043, "chromosome": "9", "assembly": "GRCh38", "startPosition": 4709556 } ], "primaryId": "HGNC:17376", "crossReferences": [ { "id": "ENSEMBL:ENSG00000147853" }, { "id": "NCBI_Gene:50808" }, { "id": "PANTHER:PTHR23359" }, { "id": "UniProtKB:Q9UIJ7" }, { "pages": [ "gene/references" ], "id": "RGD:737588" }, { "pages": [ "gene" ], "id": "HGNC:17376" }, { "id": "RGD:737588" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK3P2", "soTermId": "SO:0000336", "name": "AK3 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "HsT26053", "adenylate kinase 3 pseudogene 2" ], "secondaryIds": [ "RGD:5684152" ], "genomeLocations": [ { "strand": "-", "endPosition": 143057847, "chromosome": "8", "assembly": "GRCh38", "startPosition": 143057060 } ], "primaryId": "HGNC:31099", "crossReferences": [ { "id": "ENSEMBL:ENSG00000250115" }, { "id": "NCBI_Gene:100419074" }, { "pages": [ "gene/references" ], "id": "RGD:5684152" }, { "pages": [ "gene" ], "id": "HGNC:31099" }, { "id": "RGD:5684152" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK3P3", "soTermId": "SO:0000336", "name": "AK3 pseudogene 3", "basicGeneticEntity": { "synonyms": [ "adenylate kinase 3 pseudogene 3" ], "secondaryIds": [ "RGD:5490944" ], "genomeLocations": [ { "strand": "+", "endPosition": 23129916, "chromosome": "7", "assembly": "GRCh38", "startPosition": 23129100 } ], "primaryId": "HGNC:39062", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230042" }, { "id": "NCBI_Gene:100419075" }, { "pages": [ "gene/references" ], "id": "RGD:5490944" }, { "pages": [ "gene" ], "id": "HGNC:39062" }, { "id": "RGD:5490944" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK3P4", "soTermId": "SO:0000336", "name": "AK3 pseudogene 4", "basicGeneticEntity": { "synonyms": [ "adenylate kinase 3 pseudogene 4" ], "secondaryIds": [ "RGD:4144669" ], "genomeLocations": [ { "strand": "+", "endPosition": 115402964, "chromosome": "5", "assembly": "GRCh38", "startPosition": 115402340 } ], "primaryId": "HGNC:39063", "crossReferences": [ { "id": "ENSEMBL:ENSG00000248722" }, { "id": "NCBI_Gene:100129959" }, { "pages": [ "gene/references" ], "id": "RGD:4144669" }, { "pages": [ "gene" ], "id": "HGNC:39063" }, { "id": "RGD:4144669" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK3P5", "soTermId": "SO:0000336", "name": "AK3 pseudogene 5", "basicGeneticEntity": { "synonyms": [ "adenylate kinase 3 pseudogene 5" ], "secondaryIds": [ "RGD:4144672" ], "genomeLocations": [ { "strand": "+", "endPosition": 32945201, "chromosome": "10", "assembly": "GRCh38", "startPosition": 32944282 } ], "primaryId": "HGNC:39064", "crossReferences": [ { "id": "ENSEMBL:ENSG00000228816" }, { "id": "NCBI_Gene:100288319" }, { "pages": [ "gene/references" ], "id": "RGD:4144672" }, { "pages": [ "gene" ], "id": "HGNC:39064" }, { "id": "RGD:4144672" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK3P6", "soTermId": "SO:0000336", "name": "AK3 pseudogene 6", "basicGeneticEntity": { "synonyms": [ "adenylate kinase 3 pseudogene 6" ], "secondaryIds": [ "RGD:6481552" ], "genomeLocations": [ { "strand": "-", "endPosition": 128945296, "chromosome": "12", "assembly": "GRCh38", "startPosition": 128942099 } ], "primaryId": "HGNC:39065", "crossReferences": [ { "id": "NCBI_Gene:100873789" }, { "pages": [ "gene/references" ], "id": "RGD:6481552" }, { "pages": [ "gene" ], "id": "HGNC:39065" }, { "id": "RGD:6481552" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK3P7", "soTermId": "SO:0000336", "name": "AK3 pseudogene 7", "basicGeneticEntity": { "secondaryIds": [ "RGD:155631404" ], "genomeLocations": [ { "strand": "+", "endPosition": 52735013, "chromosome": "3", "assembly": "GRCh38", "startPosition": 52734735 } ], "primaryId": "HGNC:56418", "crossReferences": [ { "id": "ENSEMBL:ENSG00000270941" }, { "id": "NCBI_Gene:127379742" }, { "pages": [ "gene/references" ], "id": "RGD:155631404" }, { "pages": [ "gene" ], "id": "HGNC:56418" }, { "id": "RGD:155631404" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK4", "geneSynopsis": "This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adenylate kinase 4", "basicGeneticEntity": { "synonyms": [ "AK 4", "AK3", "AK3L1", "AK3L2", "AK3L2P", "AK4P3", "ATP-AMP transphosphorylase", "GTP:AMP phosphotransferase", "GTP:AMP phosphotransferase AK4", "GTP:AMP phosphotransferase AK4, mitochondrial", "MGC166959", "adenylate kinase 3-like 1", "adenylate kinase 4 pseudogene 3", "adenylate kinase 4, mitochondrial", "adenylate kinase isoenzyme 4", "adenylate kinase isoenzyme 4, mitochondrial", "mitochondrial adenylate kinase-3", "nucleoside-triphosphate-adenylate kinase" ], "secondaryIds": [ "RGD:1606591" ], "genomeLocations": [ { "strand": "+", "endPosition": 65232145, "chromosome": "1", "assembly": "GRCh38", "startPosition": 65146902 } ], "primaryId": "HGNC:363", "crossReferences": [ { "id": "ENSEMBL:ENSG00000233381" }, { "id": "ENSEMBL:ENSG00000162433" }, { "id": "NCBI_Gene:205" }, { "id": "PANTHER:PTHR23359" }, { "id": "UniProtKB:P27144" }, { "pages": [ "gene/references" ], "id": "RGD:1606591" }, { "pages": [ "gene" ], "id": "HGNC:363" }, { "id": "RGD:1606591" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK4P1", "geneSynopsis": "INTERACTS WITH aristolochic acid A; cadmium dichloride", "soTermId": "SO:0000336", "name": "adenylate kinase 4 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AK3P1" ], "secondaryIds": [ "RGD:1349421" ], "genomeLocations": [ { "strand": "+", "endPosition": 31347701, "chromosome": "17", "assembly": "GRCh38", "startPosition": 31345316 } ], "primaryId": "HGNC:364", "crossReferences": [ { "id": "ENSEMBL:ENSG00000263535" }, { "id": "NCBI_Gene:206" }, { "pages": [ "gene/references" ], "id": "RGD:1349421" }, { "pages": [ "gene" ], "id": "HGNC:364" }, { "id": "RGD:1349421" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK4P2", "soTermId": "SO:0000336", "name": "adenylate kinase 4 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:4144712" ], "genomeLocations": [ { "strand": "-", "endPosition": 55552667, "chromosome": "5", "assembly": "GRCh38", "startPosition": 55551694 } ], "primaryId": "HGNC:39066", "crossReferences": [ { "id": "ENSEMBL:ENSG00000249410" }, { "id": "NCBI_Gene:100132104" }, { "pages": [ "gene/references" ], "id": "RGD:4144712" }, { "pages": [ "gene" ], "id": "HGNC:39066" }, { "id": "RGD:4144712" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK4P3", "geneSynopsis": "Predicted to enable nucleoside diphosphate kinase activity. Predicted to be involved in AMP metabolic process and nucleoside triphosphate biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0000336", "name": "adenylate kinase 4 pseudogene 3", "basicGeneticEntity": { "synonyms": [ "AK3L2", "AK3L2P" ], "secondaryIds": [ "RGD:625783097" ], "genomeLocations": [ { "strand": "-", "endPosition": 31652095, "chromosome": "12", "assembly": "GRCh38", "startPosition": 31614243 } ], "primaryId": "HGNC:21596", "crossReferences": [ { "id": "ENSEMBL:ENSG00000233381" }, { "id": "NCBI_Gene:645619" }, { "id": "PANTHER:PTHR23359" }, { "id": "UniProtKB:A0A8I5KW96" }, { "pages": [ "gene/references" ], "id": "RGD:625783097" }, { "pages": [ "gene" ], "id": "HGNC:21596" }, { "id": "RGD:625783097" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK4P4", "soTermId": "SO:0000336", "name": "adenylate kinase 4 pseudogene 4", "basicGeneticEntity": { "secondaryIds": [ "RGD:4144715" ], "genomeLocations": [ { "strand": "-", "endPosition": 5856610, "chromosome": "9", "assembly": "GRCh38", "startPosition": 5855589 } ], "primaryId": "HGNC:39067", "crossReferences": [ { "id": "ENSEMBL:ENSG00000223621" }, { "id": "NCBI_Gene:100128705" }, { "pages": [ "gene/references" ], "id": "RGD:4144715" }, { "pages": [ "gene" ], "id": "HGNC:39067" }, { "id": "RGD:4144715" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK4P5", "soTermId": "SO:0000336", "name": "adenylate kinase 4 pseudogene 5", "basicGeneticEntity": { "synonyms": [ "KIAA1424" ], "secondaryIds": [ "RGD:4145468" ], "genomeLocations": [ { "strand": "-", "endPosition": 80078362, "chromosome": "6", "assembly": "GRCh38", "startPosition": 80077729 } ], "primaryId": "HGNC:39068", "crossReferences": [ { "id": "ENSEMBL:ENSG00000217377" }, { "id": "NCBI_Gene:100526416" }, { "pages": [ "gene/references" ], "id": "RGD:4145468" }, { "pages": [ "gene" ], "id": "HGNC:39068" }, { "id": "RGD:4145468" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK4P6", "soTermId": "SO:0000336", "name": "adenylate kinase 4 pseudogene 6", "basicGeneticEntity": { "secondaryIds": [ "RGD:4144674" ], "genomeLocations": [ { "strand": "+", "endPosition": 151027817, "chromosome": "4", "assembly": "GRCh38", "startPosition": 151027090 } ], "primaryId": "HGNC:39069", "crossReferences": [ { "id": "ENSEMBL:ENSG00000235606" }, { "id": "NCBI_Gene:649288" }, { "pages": [ "gene/references" ], "id": "RGD:4144674" }, { "pages": [ "gene" ], "id": "HGNC:39069" }, { "id": "RGD:4144674" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK5", "geneSynopsis": "This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adenylate kinase 5", "basicGeneticEntity": { "synonyms": [ "AK 5", "AK6", "ATP-AMP transphosphorylase 5", "MGC33326", "adenylate kinase 6", "adenylate kinase isoenzyme 5" ], "secondaryIds": [ "RGD:1353587" ], "genomeLocations": [ { "strand": "+", "endPosition": 77559966, "chromosome": "1", "assembly": "GRCh38", "startPosition": 77282019 } ], "primaryId": "HGNC:365", "crossReferences": [ { "id": "ENSEMBL:ENSG00000154027" }, { "id": "NCBI_Gene:26289" }, { "id": "PANTHER:PTHR23359" }, { "id": "UniProtKB:Q9Y6K8" }, { "pages": [ "gene/references" ], "id": "RGD:1353587" }, { "pages": [ "gene" ], "id": "HGNC:365" }, { "id": "RGD:1353587" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK5-AS1", "soTermId": "SO:0001263", "name": "AK5 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:597621574" ], "primaryId": "HGNC:40069", "crossReferences": [ { "id": "NCBI_Gene:139355236" }, { "pages": [ "gene/references" ], "id": "RGD:597621574" }, { "pages": [ "gene" ], "id": "HGNC:40069" }, { "id": "RGD:597621574" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK6", "geneSynopsis": "This gene encodes a protein that belongs to the adenylate kinase family of enzymes. The protein has a nuclear localization and contains Walker A (P-loop) and Walker B motifs and a metal-coordinating residue. The protein may be involved in regulation of Cajal body formation. In human, AK6 and TAF9 (GeneID: 6880) are two distinct genes that share 5' exons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]", "soTermId": "SO:0001217", "name": "adenylate kinase 6", "basicGeneticEntity": { "synonyms": [ "AD-004", "AK/ATPase", "ATP-AMP transphosphorylase 6", "CGI-137", "CINAP", "CIP", "adenylate kinase isoenzyme 6", "adrenal gland protein AD-004", "coilin interacting nuclear ATPase protein", "coilin interacting protein", "coilin-interacting nuclear ATPase protein", "dual activity adenylate kinase/ATPase", "hCINAP", "sperm protein HTL-T-97p" ], "secondaryIds": [ "RGD:7382322" ], "genomeLocations": [ { "strand": "-", "endPosition": 69370013, "chromosome": "5", "assembly": "GRCh38", "startPosition": 69350984 } ], "primaryId": "HGNC:49151", "crossReferences": [ { "id": "ENSEMBL:ENSG00000279247" }, { "id": "ENSEMBL:ENSG00000085231" }, { "id": "NCBI_Gene:102157402" }, { "id": "PANTHER:PTHR12595" }, { "id": "UniProtKB:Q9Y3D8" }, { "pages": [ "gene/references" ], "id": "RGD:7382322" }, { "pages": [ "gene" ], "id": "HGNC:49151" }, { "id": "RGD:7382322" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK6P1", "soTermId": "SO:0000336", "name": "adenylate kinase 6 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:10043079" ], "genomeLocations": [ { "strand": "+", "endPosition": 34250265, "chromosome": "12", "assembly": "GRCh38", "startPosition": 34230379 } ], "primaryId": "HGNC:51678", "crossReferences": [ { "id": "ENSEMBL:ENSG00000256614" }, { "id": "NCBI_Gene:100132086" }, { "pages": [ "gene/references" ], "id": "RGD:10043079" }, { "pages": [ "gene" ], "id": "HGNC:51678" }, { "id": "RGD:10043079" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK6P2", "soTermId": "SO:0000336", "name": "adenylate kinase 6 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:10043089" ], "genomeLocations": [ { "strand": "-", "endPosition": 38086652, "chromosome": "12", "assembly": "GRCh38", "startPosition": 38078179 } ], "primaryId": "HGNC:51679", "crossReferences": [ { "id": "ENSEMBL:ENSG00000257173" }, { "id": "NCBI_Gene:100128817" }, { "pages": [ "gene/references" ], "id": "RGD:10043089" }, { "pages": [ "gene" ], "id": "HGNC:51679" }, { "id": "RGD:10043089" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK7", "geneSynopsis": "This gene encodes a member of the adenylate kinase family of enzymes. The encoded enzyme is a phosphotransferase that catalyzes the reversible phosphorylation of adenine nucleotides. This enzyme plays a role in energy homeostasis of the cell. Alternative splicing results in multiple transcript variants. Mutations in the mouse gene are associated with primary ciliary dyskinesia. [provided by RefSeq, Apr 2017]", "soTermId": "SO:0001217", "name": "adenylate kinase 7", "basicGeneticEntity": { "synonyms": [ "AK 7", "ATP-AMP transphosphorylase 7", "CFAP75", "FAP75", "FLJ32864", "SPGF27", "putative adenylate kinase 7" ], "secondaryIds": [ "RGD:1320025" ], "genomeLocations": [ { "strand": "+", "endPosition": 96490031, "chromosome": "14", "assembly": "GRCh38", "startPosition": 96392128 } ], "primaryId": "HGNC:20091", "crossReferences": [ { "id": "ENSEMBL:ENSG00000140057" }, { "id": "NCBI_Gene:122481" }, { "id": "PANTHER:PTHR23359" }, { "id": "UniProtKB:Q96M32" }, { "pages": [ "gene/references" ], "id": "RGD:1320025" }, { "pages": [ "gene" ], "id": "HGNC:20091" }, { "id": "RGD:1320025" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK8", "geneSynopsis": "Enables AMP binding activity and nucleobase-containing compound kinase activity. Predicted to be involved in nucleoside monophosphate phosphorylation. Predicted to act upstream of or within ventricular system development. Located in 9+2 motile cilium. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "adenylate kinase 8", "basicGeneticEntity": { "synonyms": [ "AK 8", "ATP-AMP transphosphorylase 8", "C9orf98", "DDX31", "FLJ32704", "FLJ36014", "RP11-143F18.1", "putative adenylate kinase-like protein C9orf98" ], "secondaryIds": [ "RGD:1350831" ], "genomeLocations": [ { "strand": "-", "endPosition": 132879046, "chromosome": "9", "assembly": "GRCh38", "startPosition": 132725573 } ], "primaryId": "HGNC:26526", "crossReferences": [ { "id": "ENSEMBL:ENSG00000165695" }, { "id": "NCBI_Gene:158067" }, { "id": "PANTHER:PTHR23359" }, { "id": "UniProtKB:Q96MA6" }, { "pages": [ "gene/references" ], "id": "RGD:1350831" }, { "pages": [ "gene" ], "id": "HGNC:26526" }, { "id": "RGD:1350831" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AK9", "geneSynopsis": "The protein encoded by this gene catalyzes the interconversion of nucleosides, possessing both nucleoside monophosphate and diphosphate kinase activities. The encoded protein uses these interconversions to maintain nucleoside homeostasis. [provided by RefSeq, Jul 2016]", "soTermId": "SO:0001217", "name": "adenylate kinase 9", "basicGeneticEntity": { "synonyms": [ "AK 9", "AKD1", "AKD2", "C6orf199", "C6orf224", "FLJ34784", "FLJ42177", "MGC26954", "RP1-70A9.1", "SPGF89", "adenylate kinase domain containing 1", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 224", "dJ70A9.1" ], "secondaryIds": [ "RGD:1354002" ], "genomeLocations": [ { "strand": "-", "endPosition": 109691217, "chromosome": "6", "assembly": "GRCh38", "startPosition": 109492855 } ], "primaryId": "HGNC:33814", "crossReferences": [ { "id": "ENSEMBL:ENSG00000155085" }, { "id": "NCBI_Gene:221264" }, { "id": "PANTHER:PTHR23359" }, { "id": "UniProtKB:Q5TCS8" }, { "pages": [ "gene/references" ], "id": "RGD:1354002" }, { "pages": [ "gene" ], "id": "HGNC:33814" }, { "id": "RGD:1354002" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKAIN1", "geneSynopsis": "Enables protein kinase A binding activity. Involved in protein localization. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "A-kinase anchor inhibitor 1", "basicGeneticEntity": { "synonyms": [ "A kinase (PRKA) anchor inhibitor 1", "A-kinase anchor protein C18orf42", "A-kinase anchor protein inhibitor 1", "C18orf42", "chromosome 18 open reading frame 42", "hypothetical protein LOC642597", "putative uncharacterized protein C18orf42" ], "secondaryIds": [ "RGD:5131749" ], "genomeLocations": [ { "strand": "-", "endPosition": 5197691, "chromosome": "18", "assembly": "GRCh38", "startPosition": 5142911 } ], "primaryId": "HGNC:28285", "crossReferences": [ { "id": "ENSEMBL:ENSG00000231824" }, { "id": "NCBI_Gene:642597" }, { "id": "UniProtKB:P0CW23" }, { "pages": [ "gene/references" ], "id": "RGD:5131749" }, { "pages": [ "gene" ], "id": "HGNC:28285" }, { "id": "RGD:5131749" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKAIN1-AS1", "soTermId": "SO:0001263", "name": "AKAIN1 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:617301378" ], "primaryId": "HGNC:58563", "crossReferences": [ { "id": "NCBI_Gene:142592819" }, { "pages": [ "gene/references" ], "id": "RGD:617301378" }, { "pages": [ "gene" ], "id": "HGNC:58563" }, { "id": "RGD:617301378" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKAP1", "geneSynopsis": "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. The encoded protein binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "A-kinase anchoring protein 1", "basicGeneticEntity": { "synonyms": [ "A kinase (PRKA) anchor protein 1", "A-kinase anchor protein 1, mitochondrial", "A-kinase anchor protein 149 kDa", "A-kinase anchor protein, 149kD", "AKAP", "AKAP 149", "AKAP121", "AKAP149", "AKAP84", "D-AKAP-1", "D-AKAP1", "MGC1807", "PPP1R43", "PRKA1", "SAKAP84", "TDRD17", "dual specificity A-kinase-anchoring protein 1", "dual-specificity A-kinase anchoring protein 1", "protein kinase A anchoring protein 1", "protein kinase A-anchoring protein 1", "protein kinase A1", "protein kinase anchoring protein 1", "protein phosphatase 1, regulatory subunit 43", "spermatid A-kinase anchor protein 84", "testicular secretory protein Li 5", "tudor domain containing 17" ], "secondaryIds": [ "RGD:1343676" ], "genomeLocations": [ { "strand": "+", "endPosition": 57121349, "chromosome": "17", "assembly": "GRCh38", "startPosition": 57085092 } ], "primaryId": "HGNC:367", "crossReferences": [ { "id": "ENSEMBL:ENSG00000121057" }, { "id": "NCBI_Gene:8165" }, { "id": "PANTHER:PTHR22948" }, { "id": "UniProtKB:Q92667" }, { "pages": [ "gene/references" ], "id": "RGD:1343676" }, { "pages": [ "gene" ], "id": "HGNC:367" }, { "id": "RGD:1343676" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKAP1-DT", "geneSynopsis": "INTERACTS WITH okadaic acid", "soTermId": "SO:0001263", "name": "AKAP1 divergent transcript", "basicGeneticEntity": { "secondaryIds": [ "RGD:40818090" ], "genomeLocations": [ { "strand": "-", "endPosition": 57085127, "chromosome": "17", "assembly": "GRCh38", "startPosition": 57071407 } ], "primaryId": "HGNC:55339", "crossReferences": [ { "id": "ENSEMBL:ENSG00000263004" }, { "id": "NCBI_Gene:119139901" }, { "pages": [ "gene/references" ], "id": "RGD:40818090" }, { "pages": [ "gene" ], "id": "HGNC:55339" }, { "id": "RGD:40818090" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKAP10", "geneSynopsis": "This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins bind to the regulatory subunits of protein kinase A (PKA) and confine the holoenzyme to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. Polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2012]", "soTermId": "SO:0001217", "name": "A-kinase anchoring protein 10", "basicGeneticEntity": { "synonyms": [ "A kinase (PRKA) anchor protein 10", "A-kinase anchor protein 10, mitochondrial", "AKAP-10", "D-AKAP-2", "D-AKAP2", "MGC9414", "PRKA10", "a kinase anchor protein 10", "dual specificity A kinase-anchoring protein 2", "dual-specificity A-kinase anchoring protein 2", "mitochondrial A kinase PPKA anchor protein 10", "protein kinase A anchoring protein 10", "protein kinase A-anchoring protein 10" ], "secondaryIds": [ "RGD:70080" ], "genomeLocations": [ { "strand": "-", "endPosition": 19978343, "chromosome": "17", "assembly": "GRCh38", "startPosition": 19904302 } ], "primaryId": "HGNC:368", "crossReferences": [ { "id": "ENSEMBL:ENSG00000108599" }, { "id": "NCBI_Gene:11216" }, { "id": "PANTHER:PTHR13155" }, { "id": "UniProtKB:O43572" }, { "pages": [ "gene/references" ], "id": "RGD:70080" }, { "pages": [ "gene" ], "id": "HGNC:368" }, { "id": "RGD:70080" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKAP11", "geneSynopsis": "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. The encoded protein is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "A-kinase anchoring protein 11", "basicGeneticEntity": { "synonyms": [ "A kinase (PRKA) anchor protein 11", "A-kinase anchor protein 11", "A-kinase anchor protein 220 kDa", "A-kinase anchoring protein, 220kDa", "AKAP-11", "AKAP220", "DKFZp781I12161", "FLJ11304", "KIAA0629", "PPP1R44", "PRKA11", "a kinase anchor protein 220 kDa", "hAKAP220", "protein kinase A anchoring protein 11", "protein kinase A-anchoring protein 11", "protein phosphatase 1, regulatory subunit 44" ], "secondaryIds": [ "RGD:736276" ], "genomeLocations": [ { "strand": "+", "endPosition": 42323283, "chromosome": "13", "assembly": "GRCh38", "startPosition": 42271475 } ], "primaryId": "HGNC:369", "crossReferences": [ { "id": "ENSEMBL:ENSG00000023516" }, { "id": "NCBI_Gene:11215" }, { "id": "PANTHER:PTHR10226" }, { "id": "UniProtKB:Q9UKA4" }, { "pages": [ "gene/references" ], "id": "RGD:736276" }, { "pages": [ "gene" ], "id": "HGNC:369" }, { "id": "RGD:736276" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKAP12", "geneSynopsis": "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. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "A-kinase anchoring protein 12", "basicGeneticEntity": { "synonyms": [ "A kinase (PRKA) anchor protein 12", "A-kinase anchor protein 12", "A-kinase anchor protein 250 kDa", "A-kinase anchor protein, 250kDa", "AKAP 250", "AKAP-12", "AKAP250", "DKFZp686M0430", "DKFZp686O0331", "FLJ20945", "FLJ97621", "SSeCKS", "Src-Suppressed C Kinase Substrate", "kinase scaffold protein gravin", "myasthenia gravis autoantigen gravin" ], "secondaryIds": [ "RGD:737243" ], "genomeLocations": [ { "strand": "+", "endPosition": 151358563, "chromosome": "6", "assembly": "GRCh38", "startPosition": 151239936 } ], "primaryId": "HGNC:370", "crossReferences": [ { "id": "ENSEMBL:ENSG00000131016" }, { "id": "NCBI_Gene:9590" }, { "id": "PANTHER:PTHR23209" }, { "id": "UniProtKB:Q02952" }, { "pages": [ "gene/references" ], "id": "RGD:737243" }, { "pages": [ "gene" ], "id": "HGNC:370" }, { "id": "RGD:737243" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKAP13", "geneSynopsis": "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. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]", "soTermId": "SO:0001217", "name": "A-kinase anchoring protein 13", "basicGeneticEntity": { "synonyms": [ "A kinase (PRKA) anchor protein 13", "A-kinase anchor protein 13", "A-kinase anchoring protein", "AKAP-13", "AKAP-Lbc", "ARHGEF13", "BRX", "FLJ11952", "FLJ43341", "HA-3", "Ht31", "LBC", "LBC oncogene", "PRKA13", "PROTO-LB", "PROTO-LBC", "breast cancer nuclear receptor-binding auxiliary protein", "c-lbc", "guanine nucleotide exchange factor Lbc", "human thyroid-anchoring protein 31", "lymphoid blast crisis oncogene", "non-oncogenic Rho GTPase-specific GTP exchange factor", "p47", "protein kinase A-anchoring protein 13" ], "secondaryIds": [ "RGD:736118" ], "genomeLocations": [ { "strand": "+", "endPosition": 85749358, "chromosome": "15", "assembly": "GRCh38", "startPosition": 85380571 } ], "primaryId": "HGNC:371", "crossReferences": [ { "id": "ENSEMBL:ENSG00000170776" }, { "id": "NCBI_Gene:11214" }, { "id": "PANTHER:PTHR13944" }, { "id": "UniProtKB:Q12802" }, { "pages": [ "gene/references" ], "id": "RGD:736118" }, { "pages": [ "gene" ], "id": "HGNC:371" }, { "id": "RGD:736118" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKAP13-AS1", "soTermId": "SO:0001263", "name": "AKAP13 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:150524103" ], "primaryId": "HGNC:55975", "crossReferences": [ { "id": "NCBI_Gene:123466214" }, { "pages": [ "gene/references" ], "id": "RGD:150524103" }, { "pages": [ "gene" ], "id": "HGNC:55975" }, { "id": "RGD:150524103" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKAP14", "geneSynopsis": "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. The protein anchors PKA in ciliary axonemes and, in this way, may play a role in regulating ciliary beat frequency. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "A-kinase anchoring protein 14", "basicGeneticEntity": { "synonyms": [ "A kinase (PRKA) anchor protein 14", "A-kinase anchor protein 14", "A-kinase anchor protein 28 kDa", "A-kinase anchoring protein 28", "AKAP 28", "AKAP-14", "AKAP28", "PRKA14", "protein kinase A-anchoring protein 14" ], "secondaryIds": [ "RGD:1353822" ], "genomeLocations": [ { "strand": "+", "endPosition": 119920720, "chromosome": "X", "assembly": "GRCh38", "startPosition": 119895837 } ], "primaryId": "HGNC:24061", "crossReferences": [ { "id": "ENSEMBL:ENSG00000186471" }, { "id": "NCBI_Gene:158798" }, { "id": "PANTHER:PTHR35075" }, { "id": "UniProtKB:Q86UN6" }, { "pages": [ "gene/references" ], "id": "RGD:1353822" }, { "pages": [ "gene" ], "id": "HGNC:24061" }, { "id": "RGD:1353822" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKAP17A", "geneSynopsis": "This locus encodes a protein kinase A anchoring protein. The encoded protein is part of the spliceosome complex and is involved in the regulation of alternate splicing in some mRNA precursors. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Sep 2010]", "soTermId": "SO:0001217", "name": "A-kinase anchoring protein 17A", "basicGeneticEntity": { "synonyms": [ "721P", "A kinase (PRKA) anchor protein 17A", "A-kinase anchor protein 17A", "AKAP-17A", "B-lymphocyte surface antigen", "CCDC133", "CXYorf3", "DXYS155E", "FLJ98315", "MGC125365", "MGC125366", "MGC39904", "PRKA17A", "SFRS17A", "XE7", "XE7Y", "protein kinase A-anchoring protein 17A", "pseudoautosomal gene XE7", "splicing factor, arginine/serine-rich 17A" ], "secondaryIds": [ "RGD:1606031" ], "genomeLocations": [ { "strand": "+", "endPosition": 1602532, "chromosome": "X", "assembly": "GRCh38", "startPosition": 1591604 }, { "strand": "+", "endPosition": 1602532, "chromosome": "Y", "assembly": "GRCh38", "startPosition": 1591604 } ], "primaryId": "HGNC:18783", "crossReferences": [ { "id": "ENSEMBL:ENSG00000197976" }, { "id": "ENSEMBL:ENSG00000292343" }, { "id": "NCBI_Gene:8227" }, { "id": "PANTHER:PTHR12484" }, { "id": "UniProtKB:Q02040" }, { "pages": [ "gene/references" ], "id": "RGD:1606031" }, { "pages": [ "gene" ], "id": "HGNC:18783" }, { "id": "RGD:1606031" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKAP17BP", "soTermId": "SO:0000336", "name": "A-kinase anchoring protein 17B, pseudogene", "basicGeneticEntity": { "synonyms": [ "A-kinase anchor protein 17B-like", "AKAP16B", "AKAP16BP", "LOC107985692" ], "secondaryIds": [ "RGD:4143131" ], "genomeLocations": [ { "strand": "-", "endPosition": 119257673, "chromosome": "X", "assembly": "GRCh38", "startPosition": 119246541 } ], "primaryId": "HGNC:38514", "crossReferences": [ { "id": "ENSEMBL:ENSG00000214992" }, { "id": "NCBI_Gene:139516" }, { "pages": [ "gene/references" ], "id": "RGD:4143131" }, { "pages": [ "gene" ], "id": "HGNC:38514" }, { "id": "RGD:4143131" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKAP19", "geneSynopsis": "Predicted to enable protein kinase A regulatory subunit binding activity. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "A-kinase anchoring protein 19", "basicGeneticEntity": { "synonyms": [ "C2orf88", "MGC13057", "UPF0733 protein C2orf88", "Uncharacterized protein FLJ90687", "chromosome 2 open reading frame 88", "hypothetical protein LOC84281", "smAKAP", "small A-kinase anchoring protein", "small membrane A-kinase anchor protein", "small membrane AKAP" ], "secondaryIds": [ "RGD:1601946" ], "genomeLocations": [ { "strand": "+", "endPosition": 190203484, "chromosome": "2", "assembly": "GRCh38", "startPosition": 189879562 } ], "primaryId": "HGNC:28191", "crossReferences": [ { "id": "ENSEMBL:ENSG00000187699" }, { "id": "NCBI_Gene:84281" }, { "id": "PANTHER:PTHR36471" }, { "id": "UniProtKB:Q9BSF0" }, { "pages": [ "gene/references" ], "id": "RGD:1601946" }, { "pages": [ "gene" ], "id": "HGNC:28191" }, { "id": "RGD:1601946" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKAP3", "geneSynopsis": "This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013]", "soTermId": "SO:0001217", "name": "A-kinase anchoring protein 3", "basicGeneticEntity": { "synonyms": [ "A kinase (PRKA) anchor protein 3", "A-kinase anchor protein 110 kDa", "A-kinase anchor protein 3", "A-kinase anchor protein, 110kDa", "AKAP 110", "AKAP-3", "AKAP110", "CT82", "FSP95", "Fibrous Sheath Protein of 95 kDa", "HEL159", "PRKA3", "SOB1", "SPGF82", "cancer/testis antigen 82", "epididymis luminal protein 159", "fibrous sheath protein, 95kDa", "fibrousheathin 1", "fibrousheathin I", "fibrousheathin-1", "protein kinase A anchoring protein 3", "protein kinase A binding protein AKAP 110", "protein kinase A-anchoring protein 3", "sperm oocyte-binding protein 1" ], "secondaryIds": [ "RGD:1348905" ], "genomeLocations": [ { "strand": "-", "endPosition": 4649072, "chromosome": "12", "assembly": "GRCh38", "startPosition": 4613383 } ], "primaryId": "HGNC:373", "crossReferences": [ { "id": "ENSEMBL:ENSG00000111254" }, { "id": "NCBI_Gene:10566" }, { "id": "PANTHER:PTHR10226" }, { "id": "UniProtKB:O75969" }, { "pages": [ "gene/references" ], "id": "RGD:1348905" }, { "pages": [ "gene" ], "id": "HGNC:373" }, { "id": "RGD:1348905" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKAP4", "geneSynopsis": "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. The encoded protein is localized to the sperm flagellum and may be involved in the regulation of sperm motility. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "A-kinase anchoring protein 4", "basicGeneticEntity": { "synonyms": [ "75 kda fibrous sheath protein", "A kinase (PRKA) anchor protein 4", "A-kinase anchor protein 4", "A-kinase anchor protein 82 kDa", "AKAP 82", "AKAP-4", "AKAP82", "CT99", "FSC1", "HI", "PRKA4", "cancer/testis antigen 99", "hAKAP82", "major sperm fibrous sheath protein", "p82", "protein kinase A anchoring protein 4", "protein kinase A-anchoring protein 4", "testis-specific gene HI" ], "secondaryIds": [ "RGD:732830" ], "genomeLocations": [ { "strand": "-", "endPosition": 50201007, "chromosome": "X", "assembly": "GRCh38", "startPosition": 50190777 } ], "primaryId": "HGNC:374", "crossReferences": [ { "id": "ENSEMBL:ENSG00000147081" }, { "id": "NCBI_Gene:8852" }, { "id": "PANTHER:PTHR10226" }, { "id": "UniProtKB:Q5JQC9" }, { "pages": [ "gene/references" ], "id": "RGD:732830" }, { "pages": [ "gene" ], "id": "HGNC:374" }, { "id": "RGD:732830" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKAP5", "geneSynopsis": "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. The encoded protein binds to the RII-beta regulatory subunit of PKA, and also to protein kinase C and the phosphatase calcineurin. It is predominantly expressed in cerebral cortex and may anchor the PKA protein at postsynaptic densities (PSD) and be involved in the regulation of postsynaptic events. It is also expressed in T lymphocytes and may function to inhibit interleukin-2 transcription by disrupting calcineurin-dependent dephosphorylation of NFAT. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "A-kinase anchoring protein 5", "basicGeneticEntity": { "synonyms": [ "A kinase (PRKA) anchor protein 5", "A-kinase anchor protein 5", "A-kinase anchor protein 79 kDa", "A-kinase anchor protein, 79kDa", "A-kinase anchoring protein 75/79", "AKAP 79", "AKAP-5", "AKAP75", "AKAP79", "H21", "cAMP-dependent protein kinase regulatory subunit II high affinity binding protein", "cAMP-dependent protein kinase regulatory subunit II high affinity-binding protein" ], "secondaryIds": [ "RGD:1345297" ], "genomeLocations": [ { "strand": "+", "endPosition": 64474503, "chromosome": "14", "assembly": "GRCh38", "startPosition": 64465499 } ], "primaryId": "HGNC:375", "crossReferences": [ { "id": "ENSEMBL:ENSG00000179841" }, { "id": "NCBI_Gene:9495" }, { "id": "PANTHER:PTHR15182" }, { "id": "UniProtKB:P24588" }, { "pages": [ "gene/references" ], "id": "RGD:1345297" }, { "pages": [ "gene" ], "id": "HGNC:375" }, { "id": "RGD:1345297" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKAP6", "geneSynopsis": "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. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "A-kinase anchoring protein 6", "basicGeneticEntity": { "synonyms": [ "A kinase (PRKA) anchor protein 6", "A-kinase anchor protein 100 kDa", "A-kinase anchor protein 6", "ADAP100", "ADAP6", "AKAP 100", "AKAP-6", "AKAP100", "KIAA0311", "MGC165020", "PRKA6", "mAKAP", "protein kinase A anchoring protein 6", "protein kinase A-anchoring protein 6" ], "secondaryIds": [ "RGD:69458" ], "genomeLocations": [ { "strand": "+", "endPosition": 32837684, "chromosome": "14", "assembly": "GRCh38", "startPosition": 32329298 } ], "primaryId": "HGNC:376", "crossReferences": [ { "id": "ENSEMBL:ENSG00000151320" }, { "id": "NCBI_Gene:9472" }, { "id": "PANTHER:PTHR14514" }, { "id": "UniProtKB:Q13023" }, { "pages": [ "gene/references" ], "id": "RGD:69458" }, { "pages": [ "gene" ], "id": "HGNC:376" }, { "id": "RGD:69458" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKAP7", "geneSynopsis": "This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011]", "soTermId": "SO:0001217", "name": "A-kinase anchoring protein 7", "basicGeneticEntity": { "synonyms": [ "A kinase (PRKA) anchor protein 7", "A-kinase anchor protein 18 kDa", "A-kinase anchor protein 7", "A-kinase anchor protein 7 isoform alpha", "A-kinase anchor protein 7 isoform gamma", "A-kinase anchor protein 7 isoforms alpha and beta", "A-kinase anchor protein 7, isoform alpha", "A-kinase anchor protein 9 kDa", "A-kinase anchor protein, 18-kD", "A-kinase anchoring protein 18", "AKAP 18", "AKAP-7 isoform gamma", "AKAP-7 isoforms alpha and beta", "AKAP15", "AKAP18", "PRKA7 isoform gamma", "PRKA7 isoforms alpha/beta", "protein kinase A anchoring protein 7", "protein kinase A-anchoring protein 7 isoform gamma", "protein kinase A-anchoring protein 7 isoforms alpha/beta" ], "secondaryIds": [ "RGD:1350760" ], "genomeLocations": [ { "strand": "+", "endPosition": 131283535, "chromosome": "6", "assembly": "GRCh38", "startPosition": 131125627 } ], "primaryId": "HGNC:377", "crossReferences": [ { "id": "ENSEMBL:ENSG00000118507" }, { "id": "NCBI_Gene:9465" }, { "id": "PANTHER:PTHR15934" }, { "id": "UniProtKB:O43687" }, { "id": "UniProtKB:Q9P0M2" }, { "pages": [ "gene/references" ], "id": "RGD:1350760" }, { "pages": [ "gene" ], "id": "HGNC:377" }, { "id": "RGD:1350760" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKAP8", "geneSynopsis": "This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins are scaffold proteins that contain a binding domain for the RI/RII subunit of protein kinase A (PKA) and recruit PKA and other signaling molecules to specific subcellular locations. This gene encodes a nuclear A-kinase anchor protein that binds to the RII alpha subunit of PKA and may play a role in chromosome condensation during mitosis by targeting PKA and the condensin complex to chromatin. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]", "soTermId": "SO:0001217", "name": "A-kinase anchoring protein 8", "basicGeneticEntity": { "synonyms": [ "A kinase (PRKA) anchor protein 8", "A-kinase anchor protein 8", "A-kinase anchor protein 95 kDa", "A-kinase anchor protein, 95kDa", "AKAP 95", "AKAP-8", "AKAP-95", "AKAP95", "DKFZp586B1222" ], "secondaryIds": [ "RGD:731444" ], "genomeLocations": [ { "strand": "-", "endPosition": 15379829, "chromosome": "19", "assembly": "GRCh38", "startPosition": 15353385 } ], "primaryId": "HGNC:378", "crossReferences": [ { "id": "ENSEMBL:ENSG00000105127" }, { "id": "NCBI_Gene:10270" }, { "id": "PANTHER:PTHR12190" }, { "id": "UniProtKB:O43823" }, { "pages": [ "gene/references" ], "id": "RGD:731444" }, { "pages": [ "gene" ], "id": "HGNC:378" }, { "id": "RGD:731444" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKAP8L", "geneSynopsis": "Enables histone deacetylase binding activity and lamin binding activity. Involved in several processes, including cell cycle G2/M phase transition; mitotic chromosome condensation; and regulation of mRNA export from nucleus. Located in chromatin; cytoplasm; and nuclear lumen. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "A-kinase anchoring protein 8 like", "basicGeneticEntity": { "synonyms": [ "A kinase (PRKA) anchor protein 8-like", "A-kinase anchor protein 8-like", "AKAP8-like protein", "DKFZp434L0650", "HA95", "HAP95", "NAKAP", "NAKAP95", "helicase A-binding protein 95 kDa", "homologous to AKAP95 protein", "neighbor of A kinase anchoring protein 95", "neighbor of A-kinase anchoring protein 95", "neighbor of A-kinase-anchoring protein 95", "neighbor of AKAP95", "testis tissue sperm-binding protein Li 90mP" ], "secondaryIds": [ "RGD:1347470" ], "genomeLocations": [ { "strand": "-", "endPosition": 15419141, "chromosome": "19", "assembly": "GRCh38", "startPosition": 15380050 } ], "primaryId": "HGNC:29857", "crossReferences": [ { "id": "ENSEMBL:ENSG00000011243" }, { "id": "NCBI_Gene:26993" }, { "id": "PANTHER:PTHR12190" }, { "id": "UniProtKB:Q9ULX6" }, { "pages": [ "gene/references" ], "id": "RGD:1347470" }, { "pages": [ "gene" ], "id": "HGNC:29857" }, { "id": "RGD:1347470" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKAP8P1", "soTermId": "SO:0000336", "name": "A-kinase anchoring protein 8 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:8548077" ], "genomeLocations": [ { "strand": "+", "endPosition": 11013098, "chromosome": "9", "assembly": "GRCh38", "startPosition": 11011744 } ], "primaryId": "HGNC:49758", "crossReferences": [ { "id": "ENSEMBL:ENSG00000234146" }, { "id": "NCBI_Gene:646114" }, { "pages": [ "gene/references" ], "id": "RGD:8548077" }, { "pages": [ "gene" ], "id": "HGNC:49758" }, { "id": "RGD:8548077" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKAP9", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "A-kinase anchoring protein 9", "basicGeneticEntity": { "synonyms": [ "A kinase (PRKA) anchor protein (yotiao) 9", "A kinase (PRKA) anchor protein 9", "A-kinase anchor protein 350 kDa", "A-kinase anchor protein 450 kDa", "A-kinase anchor protein 9", "AKAP 120-like protein", "AKAP-9", "AKAP350", "AKAP450", "AKAP9-BRAF fusion protein", "CG-NAP", "HYPERION", "KIAA0803", "LQT11", "MU-RMS-40.16A", "PPP1R45", "PRKA9", "YOTIAO", "centrosome- and Golgi-localized PKN-associated protein", "centrosome- and golgi-localized protein kinase N-associated protein", "kinase N-associated protein", "protein kinase A anchoring protein 9", "protein phosphatase 1, regulatory subunit 45" ], "secondaryIds": [ "RGD:1349720" ], "genomeLocations": [ { "strand": "+", "endPosition": 92110673, "chromosome": "7", "assembly": "GRCh38", "startPosition": 91940840 } ], "primaryId": "HGNC:379", "crossReferences": [ { "id": "ENSEMBL:ENSG00000127914" }, { "id": "NCBI_Gene:10142" }, { "id": "PANTHER:PTHR44981" }, { "id": "UniProtKB:Q99996" }, { "pages": [ "gene/references" ], "id": "RGD:1349720" }, { "pages": [ "gene" ], "id": "HGNC:379" }, { "id": "RGD:1349720" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKIP1", "geneSynopsis": "This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]", "soTermId": "SO:0001217", "name": "A-kinase interacting protein 1", "basicGeneticEntity": { "synonyms": [ "A kinase (PRKA) interacting protein 1", "A-kinase-interacting protein 1", "BCA3", "C11orf17", "PKA-interacting protein", "breast cancer associated gene 3", "breast cancer-associated gene 3 protein", "koyt binding protein 1", "koyt binding protein 2", "koyt binding protein 3", "proline-rich protein BCA3", "protein kinase A-interacting protein 1" ], "secondaryIds": [ "RGD:1315871" ], "genomeLocations": [ { "strand": "+", "endPosition": 8922406, "chromosome": "11", "assembly": "GRCh38", "startPosition": 8911113 } ], "primaryId": "HGNC:1170", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166452" }, { "id": "NCBI_Gene:56672" }, { "id": "PANTHER:PTHR14330" }, { "id": "UniProtKB:Q9NQ31" }, { "pages": [ "gene/references" ], "id": "RGD:1315871" }, { "pages": [ "gene" ], "id": "HGNC:1170" }, { "id": "RGD:1315871" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKIRIN1", "geneSynopsis": "Predicted to enable transcription coregulator activity. Predicted to be involved in several processes, including myoblast migration involved in skeletal muscle regeneration; negative regulation of satellite cell differentiation; and positive regulation of lamellipodium assembly. Located in nuclear membrane and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "akirin 1", "basicGeneticEntity": { "synonyms": [ "C1orf108", "FLJ12666", "RP11-781D11.2", "STRF2", "akirin-1" ], "secondaryIds": [ "RGD:1606232" ], "genomeLocations": [ { "strand": "+", "endPosition": 39006059, "chromosome": "1", "assembly": "GRCh38", "startPosition": 38991272 } ], "primaryId": "HGNC:25744", "crossReferences": [ { "id": "ENSEMBL:ENSG00000174574" }, { "id": "NCBI_Gene:79647" }, { "id": "PANTHER:PTHR13293" }, { "id": "UniProtKB:Q9H9L7" }, { "pages": [ "gene/references" ], "id": "RGD:1606232" }, { "pages": [ "gene" ], "id": "HGNC:25744" }, { "id": "RGD:1606232" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKIRIN1P1", "soTermId": "SO:0000336", "name": "akirin 1 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:8662510" ], "genomeLocations": [ { "strand": "-", "endPosition": 80561560, "chromosome": "12", "assembly": "GRCh38", "startPosition": 80561013 } ], "primaryId": "HGNC:50794", "crossReferences": [ { "id": "ENSEMBL:ENSG00000257786" }, { "id": "NCBI_Gene:100418731" }, { "pages": [ "gene/references" ], "id": "RGD:8662510" }, { "pages": [ "gene" ], "id": "HGNC:50794" }, { "id": "RGD:8662510" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKIRIN1P2", "soTermId": "SO:0000336", "name": "akirin 1 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:10400468" ], "genomeLocations": [ { "strand": "+", "endPosition": 68133634, "chromosome": "X", "assembly": "GRCh38", "startPosition": 68132780 } ], "primaryId": "HGNC:50797", "crossReferences": [ { "id": "ENSEMBL:ENSG00000228125" }, { "id": "NCBI_Gene:106480306" }, { "pages": [ "gene/references" ], "id": "RGD:10400468" }, { "pages": [ "gene" ], "id": "HGNC:50797" }, { "id": "RGD:10400468" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKIRIN2", "geneSynopsis": "Enables enzyme binding activity; identical protein binding activity; and protein-macromolecule adaptor activity. Involved in proteasome localization and protein import into nucleus. Acts upstream of with a positive effect on nuclear protein quality control by the ubiquitin-proteasome system. Located in nucleoplasm. Is active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "akirin 2", "basicGeneticEntity": { "synonyms": [ "C6orf166", "FBI1", "FLJ10342", "akirin-2", "dJ486L4.2", "fourteen-three-three beta interactant 1" ], "secondaryIds": [ "RGD:1317188" ], "genomeLocations": [ { "strand": "-", "endPosition": 87702255, "chromosome": "6", "assembly": "GRCh38", "startPosition": 87674860 } ], "primaryId": "HGNC:21407", "crossReferences": [ { "id": "ENSEMBL:ENSG00000135334" }, { "id": "NCBI_Gene:55122" }, { "id": "PANTHER:PTHR13293" }, { "id": "UniProtKB:Q53H80" }, { "pages": [ "gene/references" ], "id": "RGD:1317188" }, { "pages": [ "gene" ], "id": "HGNC:21407" }, { "id": "RGD:1317188" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKIRIN2P1", "soTermId": "SO:0000336", "name": "akirin 2 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:8662511" ], "genomeLocations": [ { "strand": "+", "endPosition": 149790966, "chromosome": "4", "assembly": "GRCh38", "startPosition": 149789952 } ], "primaryId": "HGNC:50796", "crossReferences": [ { "id": "ENSEMBL:ENSG00000251482" }, { "id": "NCBI_Gene:100216487" }, { "pages": [ "gene/references" ], "id": "RGD:8662511" }, { "pages": [ "gene" ], "id": "HGNC:50796" }, { "id": "RGD:8662511" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKNA", "geneSynopsis": "Predicted to enable DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in centrosome; cytosol; and nuclear lumen. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "AT-hook transcription factor", "basicGeneticEntity": { "synonyms": [ "AKNA transcript F2", "AT-hook transcription factor AKNA", "AT-hook-containing transcription factor", "FLJ31001", "FLJ33184", "KIAA1968", "RP11-82I1.4", "RP11-9M16.2", "microtubule organization protein AKNA" ], "secondaryIds": [ "RGD:1317844" ], "genomeLocations": [ { "strand": "-", "endPosition": 114398472, "chromosome": "9", "assembly": "GRCh38", "startPosition": 114330504 } ], "primaryId": "HGNC:24108", "crossReferences": [ { "id": "ENSEMBL:ENSG00000106948" }, { "id": "NCBI_Gene:80709" }, { "id": "PANTHER:PTHR21510" }, { "id": "UniProtKB:Q7Z591" }, { "pages": [ "gene/references" ], "id": "RGD:1317844" }, { "pages": [ "gene" ], "id": "HGNC:24108" }, { "id": "RGD:1317844" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKNAD1", "geneSynopsis": "This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]", "soTermId": "SO:0001217", "name": "AKNA domain containing 1", "basicGeneticEntity": { "synonyms": [ "C1orf62", "MGC26989", "RP11-475E11.3" ], "secondaryIds": [ "RGD:1604964" ], "genomeLocations": [ { "strand": "-", "endPosition": 108963484, "chromosome": "1", "assembly": "GRCh38", "startPosition": 108815898 } ], "primaryId": "HGNC:28398", "crossReferences": [ { "id": "ENSEMBL:ENSG00000162641" }, { "id": "NCBI_Gene:254268" }, { "id": "PANTHER:PTHR21510" }, { "id": "UniProtKB:Q5T1N1" }, { "pages": [ "gene/references" ], "id": "RGD:1604964" }, { "pages": [ "gene" ], "id": "HGNC:28398" }, { "id": "RGD:1604964" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1A1", "geneSynopsis": "This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. Multiple alternatively spliced transcript variants of this gene exist, all encoding the same protein. [provided by RefSeq, Jan 2011]", "soTermId": "SO:0001217", "name": "aldo-keto reductase family 1 member A1", "basicGeneticEntity": { "synonyms": [ "ALDR1", "ALR", "ARM", "DD3", "HEL-S-165mP", "HEL-S-6", "MGC12529", "MGC1380", "S-nitroso-CoA reductase", "alcohol dehydrogenase", "alcohol dehydrogenase [NADP(+)]", "alcohol dehydrogenase [NADP+]", "aldehyde reductase", "aldo-keto reductase family 1, member A1 (aldehyde reductase)", "dihydrodiol dehydrogenase 3", "epididymis secretory protein Li 6", "epididymis secretory sperm binding protein Li 165mP", "glucuronate reductase", "glucuronolactone reductase", "scorR" ], "secondaryIds": [ "RGD:68486" ], "genomeLocations": [ { "strand": "+", "endPosition": 45570051, "chromosome": "1", "assembly": "GRCh38", "startPosition": 45550475 } ], "primaryId": "HGNC:380", "crossReferences": [ { "id": "ENSEMBL:ENSG00000117448" }, { "id": "NCBI_Gene:10327" }, { "id": "PANTHER:PTHR11732" }, { "id": "UniProtKB:P14550" }, { "pages": [ "gene/references" ], "id": "RGD:68486" }, { "pages": [ "gene" ], "id": "HGNC:380" }, { "id": "RGD:68486" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1B1", "geneSynopsis": "This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. Multiple pseudogenes have been identified for this gene. The nomenclature system used by the HUGO Gene Nomenclature Committee to define human aldo-keto reductase family members is known to differ from that used by the Mouse Genome Informatics database. [provided by RefSeq, Feb 2009]", "soTermId": "SO:0001217", "name": "aldo-keto reductase family 1 member B", "basicGeneticEntity": { "synonyms": [ "ADR", "ALDR1", "ALR2", "AR", "Lii5-2 CTCL tumor antigen", "MGC1804", "aldehyde reductase 1", "aldehyde reductase 1 (low km aldose reductase) (5.8 kb psti fragment, probably the functional gene)", "aldo-keto reductase family 1 member B1", "aldo-keto reductase family 1, member B1 (aldose reductase)", "aldose reductase", "low Km aldose reductase" ], "secondaryIds": [ "RGD:732178" ], "genomeLocations": [ { "strand": "-", "endPosition": 134459284, "chromosome": "7", "assembly": "GRCh38", "startPosition": 134442349 } ], "primaryId": "HGNC:381", "crossReferences": [ { "id": "ENSEMBL:ENSG00000085662" }, { "id": "NCBI_Gene:231" }, { "id": "PANTHER:PTHR11732" }, { "id": "UniProtKB:P15121" }, { "pages": [ "gene/references" ], "id": "RGD:732178" }, { "pages": [ "gene" ], "id": "HGNC:381" }, { "id": "RGD:732178" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1B10", "geneSynopsis": "This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member can efficiently reduce aliphatic and aromatic aldehydes, and it is less active on hexoses. It is highly expressed in adrenal gland, small intestine, and colon, and may play an important role in liver carcinogenesis. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "aldo-keto reductase family 1 member B10", "basicGeneticEntity": { "synonyms": [ "AKR1B11", "AKR1B12", "ALDRLn", "ARL-1", "ARL1", "ARP", "HIS", "HSI", "MGC14103", "SI reductase", "aldo-keto reductase family 1, member B10 (aldose reductase)", "aldo-keto reductase family 1, member B11 (aldose reductase-like)", "aldose reductase-like 1", "aldose reductase-like peptide", "aldose reductase-related protein", "hARP", "small intestine reductase" ], "secondaryIds": [ "RGD:1317959" ], "genomeLocations": [ { "strand": "+", "endPosition": 134541412, "chromosome": "7", "assembly": "GRCh38", "startPosition": 134527567 } ], "primaryId": "HGNC:382", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198074" }, { "id": "NCBI_Gene:57016" }, { "id": "PANTHER:PTHR11732" }, { "id": "UniProtKB:O60218" }, { "pages": [ "gene/references" ], "id": "RGD:1317959" }, { "pages": [ "gene" ], "id": "HGNC:382" }, { "id": "RGD:1317959" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1B10P1", "geneSynopsis": "INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3-Hydroxybenzo[a]pyrene; benzo[a]pyrene", "soTermId": "SO:0000336", "name": "aldo-keto reductase family 1 member B10 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "aldo-keto reductase family 1, member B10 pseudogene 1" ], "secondaryIds": [ "RGD:7240879" ], "genomeLocations": [ { "strand": "+", "endPosition": 67751429, "chromosome": "10", "assembly": "GRCh38", "startPosition": 67750229 } ], "primaryId": "HGNC:45062", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213606" }, { "id": "NCBI_Gene:340888" }, { "pages": [ "gene/references" ], "id": "RGD:7240879" }, { "pages": [ "gene" ], "id": "HGNC:45062" }, { "id": "RGD:7240879" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1B10P2", "soTermId": "SO:0000336", "name": "aldo-keto reductase family 1 member B10 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "aldo-keto reductase family 1, member B10 pseudogene 2" ], "secondaryIds": [ "RGD:7240883" ], "genomeLocations": [ { "strand": "+", "endPosition": 68456877, "chromosome": "18", "assembly": "GRCh38", "startPosition": 68455950 } ], "primaryId": "HGNC:45063", "crossReferences": [ { "id": "ENSEMBL:ENSG00000263355" }, { "id": "NCBI_Gene:643582" }, { "pages": [ "gene/references" ], "id": "RGD:7240883" }, { "pages": [ "gene" ], "id": "HGNC:45063" }, { "id": "RGD:7240883" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1B15", "geneSynopsis": "Enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity. Predicted to be involved in estrogen biosynthetic process. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "aldo-keto reductase family 1 member B15", "basicGeneticEntity": { "synonyms": [ "AKR1B10L", "AKR1B10L, AK1R1B7", "AKR1R1B7", "aldo-keto reductase family 1, member B10-like", "aldo-keto reductase family 1, member B15", "estradiol 17-beta-dehydrogenase AKR1B15", "farnesol dehydrogenase", "putative aldo-keto reductase family 1 member B15", "testosterone 17beta-dehydrogenase" ], "secondaryIds": [ "RGD:3516654" ], "genomeLocations": [ { "strand": "+", "endPosition": 134579875, "chromosome": "7", "assembly": "GRCh38", "startPosition": 134549110 } ], "primaryId": "HGNC:37281", "crossReferences": [ { "id": "ENSEMBL:ENSG00000227471" }, { "id": "NCBI_Gene:441282" }, { "id": "PANTHER:PTHR11732" }, { "id": "UniProtKB:C9JRZ8" }, { "pages": [ "gene/references" ], "id": "RGD:3516654" }, { "pages": [ "gene" ], "id": "HGNC:37281" }, { "id": "RGD:3516654" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1B1P1", "soTermId": "SO:0000336", "name": "aldehyde reductase family 1 member B1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ALDRL1", "aldehyde reductase family 1, member B1 pseudogene 1" ], "secondaryIds": [ "RGD:1345706" ], "genomeLocations": [ { "strand": "+", "endPosition": 224575588, "chromosome": "1", "assembly": "GRCh38", "startPosition": 224574401 } ], "primaryId": "HGNC:420", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229991" }, { "id": "NCBI_Gene:401982" }, { "pages": [ "gene/references" ], "id": "RGD:1345706" }, { "pages": [ "gene" ], "id": "HGNC:420" }, { "id": "RGD:1345706" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1B1P2", "soTermId": "SO:0000336", "name": "aldo-keto reductase family 1 member B1 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ALDRP", "aldo-keto reductase family 1, member B1 pseudogene 2" ], "secondaryIds": [ "RGD:1343467" ], "genomeLocations": [ { "strand": "+", "endPosition": 74137588, "chromosome": "3", "assembly": "GRCh38", "startPosition": 74135927 } ], "primaryId": "HGNC:425", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213452" }, { "id": "NCBI_Gene:236" }, { "pages": [ "gene/references" ], "id": "RGD:1343467" }, { "pages": [ "gene" ], "id": "HGNC:425" }, { "id": "RGD:1343467" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1B1P3", "soTermId": "SO:0000336", "name": "aldo-keto reductase family 1 member B1 pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ALDRL3", "aldehyde reductase (aldose reductase)-like 3", "aldo-keto reductase family 1, member B1 pseudogene 3" ], "secondaryIds": [ "RGD:1351686" ], "genomeLocations": [ { "strand": "-", "endPosition": 16484709, "chromosome": "11", "assembly": "GRCh38", "startPosition": 16483362 } ], "primaryId": "HGNC:422", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213785" }, { "id": "NCBI_Gene:729347" }, { "pages": [ "gene/references" ], "id": "RGD:1351686" }, { "pages": [ "gene" ], "id": "HGNC:422" }, { "id": "RGD:1351686" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1B1P4", "soTermId": "SO:0000336", "name": "aldo-keto reductase family 1 member B1 pseudogene 4", "basicGeneticEntity": { "synonyms": [ "ALDRL4", "aldo-keto reductase family 1, member B1 pseudogene 4" ], "secondaryIds": [ "RGD:1349917" ], "genomeLocations": [ { "strand": "-", "endPosition": 45688510, "chromosome": "13", "assembly": "GRCh38", "startPosition": 45687183 } ], "primaryId": "HGNC:423", "crossReferences": [ { "id": "ENSEMBL:ENSG00000237876" }, { "id": "NCBI_Gene:390402" }, { "pages": [ "gene/references" ], "id": "RGD:1349917" }, { "pages": [ "gene" ], "id": "HGNC:423" }, { "id": "RGD:1349917" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1B1P5", "soTermId": "SO:0000336", "name": "aldo-keto reductase family 1 member B1 pseudogene 5", "basicGeneticEntity": { "synonyms": [ "AKR1B1P", "aldo-keto reductase family 1, member B1 pseudogene 5" ], "secondaryIds": [ "RGD:1345288" ], "genomeLocations": [ { "strand": "-", "endPosition": 59136451, "chromosome": "14", "assembly": "GRCh38", "startPosition": 59135123 } ], "primaryId": "HGNC:20002", "crossReferences": [ { "id": "NCBI_Gene:390482" }, { "pages": [ "gene/references" ], "id": "RGD:1345288" }, { "pages": [ "gene" ], "id": "HGNC:20002" }, { "id": "RGD:1345288" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1B1P6", "soTermId": "SO:0000336", "name": "aldo-keto reductase family 1 member B1 pseudogene 6", "basicGeneticEntity": { "synonyms": [ "aldo-keto reductase family 1, member B1 pseudogene 6" ], "secondaryIds": [ "RGD:3207496" ], "genomeLocations": [ { "strand": "+", "endPosition": 8546957, "chromosome": "18", "assembly": "GRCh38", "startPosition": 8545608 } ], "primaryId": "HGNC:33498", "crossReferences": [ { "id": "ENSEMBL:ENSG00000225212" }, { "id": "NCBI_Gene:100129769" }, { "pages": [ "gene/references" ], "id": "RGD:3207496" }, { "pages": [ "gene" ], "id": "HGNC:33498" }, { "id": "RGD:3207496" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1B1P7", "soTermId": "SO:0000336", "name": "aldo-keto reductase family 1 member B1 pseudogene 7", "basicGeneticEntity": { "synonyms": [ "aldo-keto reductase family 1, member B1 pseudogene 7" ], "secondaryIds": [ "RGD:1626550" ], "genomeLocations": [ { "strand": "-", "endPosition": 33361465, "chromosome": "19", "assembly": "GRCh38", "startPosition": 33360126 } ], "primaryId": "HGNC:33497", "crossReferences": [ { "id": "ENSEMBL:ENSG00000266899" }, { "id": "NCBI_Gene:126242" }, { "pages": [ "gene/references" ], "id": "RGD:1626550" }, { "pages": [ "gene" ], "id": "HGNC:33497" }, { "id": "RGD:1626550" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1B1P8", "soTermId": "SO:0000336", "name": "aldo-keto reductase family 1 member B1 pseudogene 8", "basicGeneticEntity": { "synonyms": [ "aldo-keto reductase family 1, member B1 pseudogene 8" ], "secondaryIds": [ "RGD:1626553" ], "genomeLocations": [ { "strand": "+", "endPosition": 116044622, "chromosome": "X", "assembly": "GRCh38", "startPosition": 116043451 } ], "primaryId": "HGNC:33496", "crossReferences": [ { "id": "ENSEMBL:ENSG00000231371" }, { "id": "NCBI_Gene:392525" }, { "pages": [ "gene/references" ], "id": "RGD:1626553" }, { "pages": [ "gene" ], "id": "HGNC:33496" }, { "id": "RGD:1626553" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1C1", "geneSynopsis": "This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "aldo-keto reductase family 1 member C1", "basicGeneticEntity": { "synonyms": [ "2-ALPHA-HSD", "20 alpha-hydroxysteroid dehydrogenase", "20-ALPHA-HSD", "20-alpha (3-alpha)-hydroxysteroid dehydrogenase", "20-alpha-hydroxysteroid dehydrogenase", "20alpha-hydroxysteroid dehydrogenase", "3beta-hydroxysteroid 3-dehydrogenase", "C9", "DD1", "DD1/DD2", "DDH", "DDH1", "H-37", "HAKRC", "HBAB", "MBAB", "MGC8954", "aldo-keto reductase C", "aldo-keto reductase family 1, member C1", "chlordecone reductase homolog HAKRC", "dihydrodiol dehydrogenase 1", "dihydrodiol dehydrogenase 1/2", "dihydrodiol dehydrogenase isoform DD1", "hepatic dihydrodiol dehydrogenase", "high-affinity hepatic bile acid-binding protein", "indanol dehydrogenase", "trans-1,2-dihydrobenzene-1,2-diol dehydrogenase", "type II 3-alpha-hydroxysteroid dehydrogenase" ], "secondaryIds": [ "RGD:1315695" ], "genomeLocations": [ { "strand": "+", "endPosition": 4983283, "chromosome": "10", "assembly": "GRCh38", "startPosition": 4963253 } ], "primaryId": "HGNC:384", "crossReferences": [ { "id": "ENSEMBL:ENSG00000187134" }, { "id": "NCBI_Gene:1645" }, { "id": "PANTHER:PTHR11732" }, { "id": "UniProtKB:Q04828" }, { "pages": [ "gene/references" ], "id": "RGD:1315695" }, { "pages": [ "gene" ], "id": "HGNC:384" }, { "id": "RGD:1315695" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1C2", "geneSynopsis": "This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols using NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]", "soTermId": "SO:0001217", "name": "aldo-keto reductase family 1 member C2", "basicGeneticEntity": { "synonyms": [ "3-alpha hydroxysteroid dehydrogenase, type III", "3-alpha-HSD3", "AKR1C-pseudo", "BABP", "DD", "DD-2", "DD/BABP", "DD2", "DDH2", "FLJ53800", "HAKRD", "HBAB", "MCDR2", "SRXY8", "TDD", "aldo-keto reductase family 1, member C2", "bile acid binding protein", "chlordecone reductase homolog HAKRD", "dihydrodiol dehydrogenase 2", "dihydrodiol dehydrogenase/bile acid-binding protein", "pseudo-chlordecone reductase", "testicular 17,20-desmolase deficiency", "trans-1,2-dihydrobenzene-1,2-diol dehydrogenase", "type II dihydrodiol dehydrogenase", "type III 3-alpha-hydroxysteroid dehydrogenase" ], "secondaryIds": [ "RGD:1353901" ], "genomeLocations": [ { "strand": "-", "endPosition": 5018031, "chromosome": "10", "assembly": "GRCh38", "startPosition": 4987775 } ], "primaryId": "HGNC:385", "crossReferences": [ { "id": "ENSEMBL:ENSG00000151632" }, { "id": "NCBI_Gene:1646" }, { "id": "PANTHER:PTHR11732" }, { "id": "UniProtKB:P52895" }, { "pages": [ "gene/references" ], "id": "RGD:1353901" }, { "pages": [ "gene" ], "id": "HGNC:385" }, { "id": "RGD:1353901" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1C3", "geneSynopsis": "This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]", "soTermId": "SO:0001217", "name": "aldo-keto reductase family 1 member C3", "basicGeneticEntity": { "synonyms": [ "3-alpha hydroxysteroid dehydrogenase, type II", "3-alpha-HSD type II, brain", "DD3", "DDX", "HA1753", "HAKRB", "HAKRe", "HSD17B5", "KIAA0119", "PGFS", "aldo-keto reductase family 1, member C3", "aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)", "chlordecone reductase homolog HAKRb", "dihydrodiol dehydrogenase 3", "dihydrodiol dehydrogenase X", "hluPGFS", "indanol dehydrogenase", "prostaglandin F synthase", "testosterone 17-beta-dehydrogenase 5", "trans-1,2-dihydrobenzene-1,2-diol dehydrogenase", "type IIb 3-alpha hydroxysteroid dehydrogenase" ], "secondaryIds": [ "RGD:1352888" ], "genomeLocations": [ { "strand": "+", "endPosition": 5107686, "chromosome": "10", "assembly": "GRCh38", "startPosition": 5035354 } ], "primaryId": "HGNC:386", "crossReferences": [ { "id": "ENSEMBL:ENSG00000196139" }, { "id": "NCBI_Gene:8644" }, { "id": "PANTHER:PTHR11732" }, { "id": "UniProtKB:P42330" }, { "pages": [ "gene/references" ], "id": "RGD:1352888" }, { "pages": [ "gene" ], "id": "HGNC:386" }, { "id": "RGD:1352888" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1C4", "geneSynopsis": "This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "aldo-keto reductase family 1 member C4", "basicGeneticEntity": { "synonyms": [ "3 alpha-hydroxysteroid dehydrogenase/dihydrodiol dehydrogenase 4", "3-alpha hydroxysteroid dehydrogenase, type I", "3-alpha-HSD", "3-alpha-HSD1", "3-alpha-hydroxysteroid 3-dehydrogenase type I", "3-alpha-hydroxysteroid dehydrogenase type I", "3alpha-hydroxysteroid 3-dehydrogenase", "C11", "CDR", "CHDR", "DD-4", "DD4", "HAKRA", "MGC22581", "aldo-keto reductase family 1, member C4", "chlordecone reductase", "dihydrodiol dehydrogenase 4", "dihydrodiol dehydrogenase isozyme DD4", "type I 3-alpha-hydroxysteroid dehydrogenase" ], "secondaryIds": [ "RGD:1347108" ], "genomeLocations": [ { "strand": "+", "endPosition": 5220608, "chromosome": "10", "assembly": "GRCh38", "startPosition": 5195462 } ], "primaryId": "HGNC:387", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198610" }, { "id": "NCBI_Gene:1109" }, { "id": "PANTHER:PTHR11732" }, { "id": "UniProtKB:P17516" }, { "pages": [ "gene/references" ], "id": "RGD:1347108" }, { "pages": [ "gene" ], "id": "HGNC:387" }, { "id": "RGD:1347108" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1C5P", "geneSynopsis": "INTERACTS WITH S-(1,2-dichlorovinyl)-L-cysteine; sodium arsenite", "soTermId": "SO:0000336", "name": "aldo-keto reductase family 1 member C5, pseudogene", "basicGeneticEntity": { "secondaryIds": [ "RGD:7175943" ], "genomeLocations": [ { "strand": "-", "endPosition": 5135226, "chromosome": "10", "assembly": "GRCh38", "startPosition": 5122087 } ], "primaryId": "HGNC:44679", "crossReferences": [ { "id": "ENSEMBL:ENSG00000225418" }, { "id": "NCBI_Gene:100996684" }, { "pages": [ "gene/references" ], "id": "RGD:7175943" }, { "pages": [ "gene" ], "id": "HGNC:44679" }, { "id": "RGD:7175943" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1C6P", "geneSynopsis": "INTERACTS WITH aflatoxin B1; benzo[a]pyrene; bisphenol A", "soTermId": "SO:0000336", "name": "aldo-keto reductase family 1 member C6, pseudogene", "basicGeneticEntity": { "synonyms": [ "TAKR", "aldo-keto reductase family 1, member C6, pseudogene" ], "secondaryIds": [ "RGD:7176848" ], "genomeLocations": [ { "strand": "-", "endPosition": 4916273, "chromosome": "10", "assembly": "GRCh38", "startPosition": 4871667 } ], "primaryId": "HGNC:44680", "crossReferences": [ { "id": "ENSEMBL:ENSG00000151631" }, { "id": "ENSEMBL:ENSG00000304775" }, { "id": "NCBI_Gene:389932" }, { "pages": [ "gene/references" ], "id": "RGD:7176848" }, { "pages": [ "gene" ], "id": "HGNC:44680" }, { "id": "RGD:7176848" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1C7P", "geneSynopsis": "INTERACTS WITH copper(II) chloride; lipopolysaccharide; okadaic acid", "soTermId": "SO:0000336", "name": "aldo-keto reductase family 1 member C7, pseudogene", "basicGeneticEntity": { "synonyms": [ "aldo-keto reductase family 1, member C7, pseudogene" ], "secondaryIds": [ "RGD:7176336" ], "genomeLocations": [ { "strand": "-", "endPosition": 5288470, "chromosome": "10", "assembly": "GRCh38", "startPosition": 5275173 } ], "primaryId": "HGNC:44681", "crossReferences": [ { "id": "ENSEMBL:ENSG00000215267" }, { "id": "NCBI_Gene:648947" }, { "pages": [ "gene/references" ], "id": "RGD:7176336" }, { "pages": [ "gene" ], "id": "HGNC:44681" }, { "id": "RGD:7176336" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1C8", "geneSynopsis": "Predicted to enable aldo-keto reductase (NADPH) activity and estradiol 17-beta-dehydrogenase [NAD(P)+] activity. Predicted to be involved in prostaglandin biosynthetic process. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "aldo-keto reductase family 1 member C8", "basicGeneticEntity": { "synonyms": [ "AKR1C8P", "AKR1CL1", "FLJ16347", "LOC124906893", "aldo-keto reductase family 1 member C-like protein 1", "aldo-keto reductase family 1 member C8, pseudogene", "aldo-keto reductase family 1, member C-like 1", "aldo-keto reductase family 1, member C8, pseudogene", "putative aldo-keto reductase family 1 member C8", "uncharacterized LOC124906893" ], "secondaryIds": [ "RGD:1316753" ], "genomeLocations": [ { "strand": "-", "endPosition": 5185187, "chromosome": "10", "assembly": "GRCh38", "startPosition": 5115813 } ], "primaryId": "HGNC:23469", "crossReferences": [ { "id": "ENSEMBL:ENSG00000264006" }, { "id": "NCBI_Gene:340811" }, { "id": "PANTHER:PTHR11732" }, { "id": "UniProtKB:Q5T2L2" }, { "pages": [ "gene/references" ], "id": "RGD:1316753" }, { "pages": [ "gene" ], "id": "HGNC:23469" }, { "id": "RGD:1316753" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1D1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "aldo-keto reductase family 1 member D1", "basicGeneticEntity": { "synonyms": [ "3-oxo-5-beta-steroid 4-dehydrogenase", "3o5bred", "CBAS2", "SRD5B1", "aldo-keto reductase family 1, member D1", "delta 4-3-ketosteroid-5-beta-reductase", "delta(4)-3-ketosteroid 5-beta-reductase", "delta(4)-3-oxosteroid 5-beta-reductase", "steroid-5-beta-reductase, beta polypeptide 1 (3-oxo-5 beta-steroid delta 4-dehydrogenase beta 1)" ], "secondaryIds": [ "RGD:736637" ], "genomeLocations": [ { "strand": "+", "endPosition": 138118306, "chromosome": "7", "assembly": "GRCh38", "startPosition": 138002324 } ], "primaryId": "HGNC:388", "crossReferences": [ { "id": "ENSEMBL:ENSG00000122787" }, { "id": "NCBI_Gene:6718" }, { "id": "PANTHER:PTHR11732" }, { "id": "UniProtKB:P51857" }, { "pages": [ "gene/references" ], "id": "RGD:736637" }, { "pages": [ "gene" ], "id": "HGNC:388" }, { "id": "RGD:736637" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1D1P1", "soTermId": "SO:0000336", "name": "aldo-keto reductase family 1 member D1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AKR1D1P", "SRD5BP1", "aldo-keto reductase family 1, member D1 pseudogene 1", "steroid-5-beta-reductase, beta polypeptide pseudogene 1" ], "secondaryIds": [ "RGD:1345885" ], "genomeLocations": [ { "strand": "+", "endPosition": 167536087, "chromosome": "1", "assembly": "GRCh38", "startPosition": 167519536 } ], "primaryId": "HGNC:11288", "crossReferences": [ { "id": "ENSEMBL:ENSG00000227776" }, { "id": "NCBI_Gene:80701" }, { "pages": [ "gene/references" ], "id": "RGD:1345885" }, { "pages": [ "gene" ], "id": "HGNC:11288" }, { "id": "RGD:1345885" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR1E2", "geneSynopsis": "The protein encoded by this gene is a member of the aldo-keto reductase superfamily. Members in this family are characterized by their structure (evolutionarily highly conserved TIM barrel) and function (NAD(P)H-dependent oxido-reduction of carbonyl groups). Transcripts of this gene have been reported in specimens of human testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]", "soTermId": "SO:0001217", "name": "aldo-keto reductase family 1 member E2", "basicGeneticEntity": { "synonyms": [ "1,5-anhydro-D-fructose reductase", "AF reductase", "AKR1CL2", "AKRDC1", "HTSP1", "LoopADR", "MGC10612", "TAKR", "aldo-keto reductase family 1 member C-like protein 2", "aldo-keto reductase family 1, member C-like 2", "aldo-keto reductase family 1, member E2", "aldo-keto reductase loopADR", "aldo-keto reductase related protein", "hTSP", "htAKR", "human testis aldo-keto reductase", "testis aldo-keto reductase", "testis-specific protein" ], "secondaryIds": [ "RGD:1320023" ], "genomeLocations": [ { "strand": "+", "endPosition": 4873237, "chromosome": "10", "assembly": "GRCh38", "startPosition": 4786629 } ], "primaryId": "HGNC:23437", "crossReferences": [ { "id": "ENSEMBL:ENSG00000165568" }, { "id": "NCBI_Gene:83592" }, { "id": "PANTHER:PTHR11732" }, { "id": "UniProtKB:Q96JD6" }, { "pages": [ "gene/references" ], "id": "RGD:1320023" }, { "pages": [ "gene" ], "id": "HGNC:23437" }, { "id": "RGD:1320023" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR7A2", "geneSynopsis": "The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]", "soTermId": "SO:0001217", "name": "aldo-keto reductase family 7 member A2", "basicGeneticEntity": { "synonyms": [ "AFAR", "AFAR1", "AFB1 aldehyde reductase 1", "AFB1-AR 1", "AFB1-AR1", "AKR7", "HEL-S-166mP", "SSA reductase", "aflatoxin B1 aldehyde reductase member 2", "aflatoxin aldehyde reductase", "aflatoxin beta1 aldehyde reductase", "aldo-keto reductase family 7, member A2", "aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)", "aldoketoreductase 7", "epididymis secretory sperm binding protein Li 166mP", "succinic semialdehyde reductase" ], "secondaryIds": [ "RGD:732683" ], "genomeLocations": [ { "strand": "-", "endPosition": 19312146, "chromosome": "1", "assembly": "GRCh38", "startPosition": 19301991 } ], "primaryId": "HGNC:389", "crossReferences": [ { "id": "ENSEMBL:ENSG00000053371" }, { "id": "NCBI_Gene:8574" }, { "id": "PANTHER:PTHR43364" }, { "id": "UniProtKB:O43488" }, { "pages": [ "gene/references" ], "id": "RGD:732683" }, { "pages": [ "gene" ], "id": "HGNC:389" }, { "id": "RGD:732683" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR7A2P1", "geneSynopsis": "INTERACTS WITH 17beta-estradiol; arsane; arsenic atom", "soTermId": "SO:0000336", "name": "AKR7A2 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AFARP1", "aldo-keto reductase family 7 member A2 pseudogene 1", "aldo-keto reductase family 7, member A2 pseudogene 1" ], "secondaryIds": [ "RGD:4144516" ], "genomeLocations": [ { "strand": "+", "endPosition": 112924673, "chromosome": "1", "assembly": "GRCh38", "startPosition": 112923350 } ], "primaryId": "HGNC:24062", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229020" }, { "id": "NCBI_Gene:246182" }, { "pages": [ "gene/references" ], "id": "RGD:4144516" }, { "pages": [ "gene" ], "id": "HGNC:24062" }, { "id": "RGD:4144516" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR7A2P2", "soTermId": "SO:0000336", "name": "AKR7A2P pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:28912511" ], "genomeLocations": [ { "strand": "-", "endPosition": 118879185, "chromosome": "X", "assembly": "GRCh38", "startPosition": 118877683 } ], "primaryId": "HGNC:55059", "crossReferences": [ { "id": "ENSEMBL:ENSG00000224341" }, { "id": "NCBI_Gene:159007" }, { "pages": [ "gene/references" ], "id": "RGD:28912511" }, { "pages": [ "gene" ], "id": "HGNC:55059" }, { "id": "RGD:28912511" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR7A3", "geneSynopsis": "Aldo-keto reductases, such as AKR7A3, are involved in the detoxification of aldehydes and ketones.[supplied by OMIM, Apr 2004]", "soTermId": "SO:0001217", "name": "aldo-keto reductase family 7 member A3", "basicGeneticEntity": { "synonyms": [ "AFAR2", "AFB1 aldehyde reductase 2", "AFB1-AR 2", "aflatoxin B1 aldehyde reductase 2", "aflatoxin B1 aldehyde reductase member 3", "aflatoxin aldehyde reductase", "aflatoxin b1 aldehyde reductase", "aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)" ], "secondaryIds": [ "RGD:733693" ], "genomeLocations": [ { "strand": "-", "endPosition": 19288823, "chromosome": "1", "assembly": "GRCh38", "startPosition": 19274229 } ], "primaryId": "HGNC:390", "crossReferences": [ { "id": "ENSEMBL:ENSG00000162482" }, { "id": "NCBI_Gene:22977" }, { "id": "PANTHER:PTHR43364" }, { "id": "UniProtKB:O95154" }, { "pages": [ "gene/references" ], "id": "RGD:733693" }, { "pages": [ "gene" ], "id": "HGNC:390" }, { "id": "RGD:733693" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKR7L", "geneSynopsis": "This gene is one of three aldo-keto reductase genes that are present in a cluster on the p arm of chromosome 1. The encoded proteins are involved in the reduction of the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. It has been speculated that this family member encodes a selenoprotein, which includes a selenocysteine (Sec) residue in lieu of a UGA translational termination codon. However, there is no evidence that such a protein is produced in vivo. The alternative interpretation is that this family member is a segregating pseudogene, where some individuals have an allele that encodes a functional enzyme, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Feb 2017]", "soTermId": "SO:0001217", "name": "aldo-keto reductase family 7 like (gene/pseudogene)", "basicGeneticEntity": { "synonyms": [ "AFAR3", "AFB1 aldehyde reductase 3", "AFB1-AR 3", "AFB1-AR3", "AKR7A4", "aflatoxin B1 aldehyde reductase 3", "aflatoxin B1 aldehyde reductase member 4", "aldo-keto reductase family 7 pseudogene", "aldo-keto reductase family 7-like", "aldo-keto reductase family 7-like (gene/pseudogene)", "aldoketoreductase 7-like" ], "secondaryIds": [ "RGD:1605840" ], "genomeLocations": [ { "strand": "-", "endPosition": 19274194, "chromosome": "1", "assembly": "GRCh38", "startPosition": 19265982 } ], "primaryId": "HGNC:24056", "crossReferences": [ { "id": "ENSEMBL:ENSG00000211454" }, { "id": "NCBI_Gene:246181" }, { "id": "PANTHER:PTHR43364" }, { "id": "UniProtKB:Q8NHP1" }, { "pages": [ "gene/references" ], "id": "RGD:1605840" }, { "pages": [ "gene" ], "id": "HGNC:24056" }, { "id": "RGD:1605840" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKT1", "geneSynopsis": "This gene encodes one of the three members of the human AKT serine-threonine protein kinase family which are often referred to as protein kinase B alpha, beta, and gamma. These highly similar AKT proteins all have an N-terminal pleckstrin homology domain, a serine/threonine-specific kinase domain and a C-terminal regulatory domain. These proteins are phosphorylated by phosphoinositide 3-kinase (PI3K). AKT/PI3K forms a key component of many signalling pathways that involve the binding of membrane-bound ligands such as receptor tyrosine kinases, G-protein coupled receptors, and integrin-linked kinase. These AKT proteins therefore regulate a wide variety of cellular functions including cell proliferation, survival, metabolism, and angiogenesis in both normal and malignant cells. AKT proteins are recruited to the cell membrane by phosphatidylinositol 3,4,5-trisphosphate (PIP3) after phosphorylation of phosphatidylinositol 4,5-bisphosphate (PIP2) by PI3K. Subsequent phosphorylation of both threonine residue 308 and serine residue 473 is required for full activation of the AKT1 protein encoded by this gene. Phosphorylation of additional residues also occurs, for example, in response to insulin growth factor-1 and epidermal growth factor. Protein phosphatases act as negative regulators of AKT proteins by dephosphorylating AKT or PIP3. The PI3K/AKT signalling pathway is crucial for tumor cell survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating AKT1 which then phosphorylates and inactivates components of the apoptotic machinery. AKT proteins also participate in the mammalian target of rapamycin (mTOR) signalling pathway which controls the assembly of the eukaryotic translation initiation factor 4F (eIF4E) complex and this pathway, in addition to responding to extracellular signals from growth factors and cytokines, is disregulated in many cancers. Mutations in this gene are associated with multiple types of cancer and excessive tissue growth including Proteus syndrome and Cowden syndrome 6, and breast, colorectal, and ovarian cancers. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]", "soTermId": "SO:0001217", "name": "AKT serine/threonine kinase 1", "basicGeneticEntity": { "synonyms": [ "AKT", "AKT1m", "CWS6", "MGC99656", "PKB", "PKB alpha", "PKB-ALPHA", "PRKBA", "RAC", "RAC-ALPHA", "RAC-PK-alpha", "RAC-alpha serine/threonine-protein kinase", "protein kinase B", "protein kinase B alpha", "proto-oncogene c-Akt", "rac protein kinase alpha", "serine-threonine protein kinase", "v-akt murine thymoma viral oncogene homolog 1", "v-akt murine thymoma viral oncogene-like protein 1" ], "secondaryIds": [ "RGD:732909" ], "genomeLocations": [ { "strand": "-", "endPosition": 104799934, "chromosome": "14", "assembly": "GRCh38", "startPosition": 104769348 } ], "primaryId": "HGNC:391", "crossReferences": [ { "id": "ENSEMBL:ENSG00000142208" }, { "id": "NCBI_Gene:207" }, { "id": "PANTHER:PTHR24351" }, { "id": "UniProtKB:P31749" }, { "pages": [ "gene/references" ], "id": "RGD:732909" }, { "pages": [ "gene" ], "id": "HGNC:391" }, { "id": "RGD:732909" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKT1S1", "geneSynopsis": "AKT1S1 is a proline-rich substrate of AKT (MIM 164730) that binds 14-3-3 protein (see YWHAH, MIM 113508) when phosphorylated (Kovacina et al., 2003 [PubMed 12524439]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "AKT1 substrate 1", "basicGeneticEntity": { "synonyms": [ "40 kDa proline-rich AKT substrate", "AKT1 substrate 1 (proline rich)", "AKT1 substrate 1 (proline-rich)", "Lobe", "MGC2865", "PRAS40", "proline-rich AKT1 substrate 1", "proline-rich Akt substrate, 40 kDa" ], "secondaryIds": [ "RGD:1323832" ], "genomeLocations": [ { "strand": "-", "endPosition": 49879470, "chromosome": "19", "assembly": "GRCh38", "startPosition": 49869033 } ], "primaryId": "HGNC:28426", "crossReferences": [ { "id": "ENSEMBL:ENSG00000204673" }, { "id": "NCBI_Gene:84335" }, { "id": "PANTHER:PTHR21844" }, { "id": "UniProtKB:Q96B36" }, { "pages": [ "gene/references" ], "id": "RGD:1323832" }, { "pages": [ "gene" ], "id": "HGNC:28426" }, { "id": "RGD:1323832" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKT2", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "AKT serine/threonine kinase 2", "basicGeneticEntity": { "synonyms": [ "HIHGHH", "Murine thymoma viral (v-akt) homolog-2", "PKB beta", "PKBB", "PKBBETA", "PRKBB", "RAC-BETA", "RAC-PK-beta", "RAC-beta serine/threonine-protein kinase", "murine thymoma viral (v-akt) oncogene homolog 2", "protein kinase Akt-2", "protein kinase B beta", "putative v-akt murine thymoma viral oncoprotein 2", "rac protein kinase beta", "v-akt murine thymoma viral oncogene homolog 2" ], "secondaryIds": [ "RGD:732407" ], "genomeLocations": [ { "strand": "-", "endPosition": 40285536, "chromosome": "19", "assembly": "GRCh38", "startPosition": 40230317 } ], "primaryId": "HGNC:392", "crossReferences": [ { "id": "ENSEMBL:ENSG00000105221" }, { "id": "NCBI_Gene:208" }, { "id": "PANTHER:PTHR24351" }, { "id": "UniProtKB:P31751" }, { "pages": [ "gene/references" ], "id": "RGD:732407" }, { "pages": [ "gene" ], "id": "HGNC:392" }, { "id": "RGD:732407" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKT3", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "AKT serine/threonine kinase 3", "basicGeneticEntity": { "synonyms": [ "DKFZp434N0250", "MPPH", "MPPH2", "PKB gamma", "PKB-GAMMA", "PKBG", "PRKBG", "RAC-PK-gamma", "RAC-gamma", "RAC-gamma serine/threonine protein kinase", "RAC-gamma serine/threonine-protein kinase", "STK-2", "protein kinase Akt-3", "protein kinase B gamma", "serine threonine protein kinase, Akt-3", "thymoma viral proto-oncogene 3", "v-akt murine thymoma viral oncogene homolog 3", "v-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma)" ], "secondaryIds": [ "RGD:735623" ], "genomeLocations": [ { "strand": "-", "endPosition": 243851079, "chromosome": "1", "assembly": "GRCh38", "startPosition": 243488233 } ], "primaryId": "HGNC:393", "crossReferences": [ { "id": "ENSEMBL:ENSG00000117020" }, { "id": "ENSEMBL:ENSG00000275199" }, { "id": "NCBI_Gene:10000" }, { "id": "PANTHER:PTHR24351" }, { "id": "UniProtKB:Q9Y243" }, { "pages": [ "gene/references" ], "id": "RGD:735623" }, { "pages": [ "gene" ], "id": "HGNC:393" }, { "id": "RGD:735623" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKT3-IT1", "soTermId": "SO:0001263", "name": "AKT3 intronic transcript 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481089" ], "genomeLocations": [ { "strand": "-", "endPosition": 243794400, "chromosome": "1", "assembly": "GRCh38", "startPosition": 243793205 } ], "primaryId": "HGNC:41304", "crossReferences": [ { "id": "ENSEMBL:ENSG00000228939" }, { "id": "NCBI_Gene:100874263" }, { "pages": [ "gene/references" ], "id": "RGD:6481089" }, { "pages": [ "gene" ], "id": "HGNC:41304" }, { "id": "RGD:6481089" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKTIP", "geneSynopsis": "The mouse homolog of this gene produces fused toes and thymic hyperplasia in heterozygous mutant animals while homozygous mutants die in early development. This gene may play a role in apoptosis as these morphological abnormalities are caused by altered patterns of programmed cell death. The protein encoded by this gene is similar to the ubiquitin ligase domain of other ubiquitin-conjugating enzymes but lacks the conserved cysteine residue that enables those enzymes to conjugate ubiquitin to the target protein. This protein interacts directly with serine/threonine kinase protein kinase B (PKB)/Akt and modulates PKB activity by enhancing the phosphorylation of PKB's regulatory sites. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "AKT interacting protein", "basicGeneticEntity": { "synonyms": [ "AKT-interacting protein", "FT1", "FTS", "fused toes homolog", "fused toes homolog (mouse)", "fused toes protein homolog" ], "secondaryIds": [ "RGD:1322487" ], "genomeLocations": [ { "strand": "-", "endPosition": 53504412, "chromosome": "16", "assembly": "GRCh38", "startPosition": 53490502 } ], "primaryId": "HGNC:16710", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166971" }, { "id": "NCBI_Gene:64400" }, { "id": "PANTHER:PTHR24067" }, { "id": "UniProtKB:Q9H8T0" }, { "pages": [ "gene/references" ], "id": "RGD:1322487" }, { "pages": [ "gene" ], "id": "HGNC:16710" }, { "id": "RGD:1322487" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKTIPP1", "soTermId": "SO:0000336", "name": "AKTIP pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AKT-interacting protein-like", "LOC101059924" ], "secondaryIds": [ "RGD:38635237" ], "genomeLocations": [ { "strand": "+", "endPosition": 52754694, "chromosome": "3", "assembly": "GRCh38", "startPosition": 52753526 } ], "primaryId": "HGNC:56419", "crossReferences": [ { "id": "NCBI_Gene:101059924" }, { "pages": [ "gene/references" ], "id": "RGD:38635237" }, { "pages": [ "gene" ], "id": "HGNC:56419" }, { "id": "RGD:38635237" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKTIPP2", "soTermId": "SO:0000336", "name": "AKTIP pseudogene 2", "basicGeneticEntity": { "synonyms": [ "AKT interacting protein pseudogene", "LOC100130746" ], "secondaryIds": [ "RGD:38602042" ], "genomeLocations": [ { "strand": "+", "endPosition": 24171445, "chromosome": "5", "assembly": "GRCh38", "startPosition": 24170171 } ], "primaryId": "HGNC:56420", "crossReferences": [ { "id": "NCBI_Gene:100130746" }, { "pages": [ "gene/references" ], "id": "RGD:38602042" }, { "pages": [ "gene" ], "id": "HGNC:56420" }, { "id": "RGD:38602042" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AKTIPP3", "soTermId": "SO:0000336", "name": "AKTIP pseudogene 3", "basicGeneticEntity": { "synonyms": [ "AKT interacting protein pseudogene", "LOC100131233" ], "secondaryIds": [ "RGD:38634158" ], "genomeLocations": [ { "strand": "-", "endPosition": 96643253, "chromosome": "11", "assembly": "GRCh38", "startPosition": 96642487 } ], "primaryId": "HGNC:56421", "crossReferences": [ { "id": "NCBI_Gene:100131233" }, { "pages": [ "gene/references" ], "id": "RGD:38634158" }, { "pages": [ "gene" ], "id": "HGNC:56421" }, { "id": "RGD:38634158" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALAD", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "aminolevulinate dehydratase", "basicGeneticEntity": { "synonyms": [ "ALADH", "MGC5057", "PBGS", "aminolevulinate, delta-, dehydratase", "delta-aminolevulinic acid dehydratase", "porphobilinogen synthase", "testicular tissue protein Li 95" ], "secondaryIds": [ "RGD:736545" ], "genomeLocations": [ { "strand": "-", "endPosition": 113401356, "chromosome": "9", "assembly": "GRCh38", "startPosition": 113386304 } ], "primaryId": "HGNC:395", "crossReferences": [ { "id": "ENSEMBL:ENSG00000148218" }, { "id": "NCBI_Gene:210" }, { "id": "PANTHER:PTHR11458" }, { "id": "UniProtKB:P13716" }, { "pages": [ "gene/references" ], "id": "RGD:736545" }, { "pages": [ "gene" ], "id": "HGNC:395" }, { "id": "RGD:736545" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALAS1", "geneSynopsis": "This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]", "soTermId": "SO:0001217", "name": "5'-aminolevulinate synthase 1", "basicGeneticEntity": { "synonyms": [ "5-aminolevulinate synthase, non-specific, mitochondrial", "5-aminolevulinate synthase, nonspecific, mitochondrial", "5-aminolevulinic acid synthase 1", "ALAS", "ALAS-H", "ALAS3", "ALASH", "MIG4", "aminolevulinate, delta-, synthase 1", "delta-ALA synthase 1", "delta-aminolevulinate synthase 1", "migration-inducing protein 4" ], "secondaryIds": [ "RGD:68572" ], "genomeLocations": [ { "strand": "+", "endPosition": 52214585, "chromosome": "3", "assembly": "GRCh38", "startPosition": 52198083 } ], "primaryId": "HGNC:396", "crossReferences": [ { "id": "ENSEMBL:ENSG00000023330" }, { "id": "NCBI_Gene:211" }, { "id": "PANTHER:PTHR13693" }, { "id": "UniProtKB:P13196" }, { "pages": [ "gene/references" ], "id": "RGD:68572" }, { "pages": [ "gene" ], "id": "HGNC:396" }, { "id": "RGD:68572" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALAS2", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "5'-aminolevulinate synthase 2", "basicGeneticEntity": { "synonyms": [ "5-aminolevulinate synthase, erythroid-specific, mitochondrial", "5-aminolevulinic acid synthase 2", "ALAS-E", "ALASE", "ANH1", "ASB", "FLJ93603", "SIDBA1", "XLDPP", "XLEPP", "XLSA", "aminolevulinate, delta-, synthase 2", "aminolevulinic acid synthase 2", "delta-ALA synthase 2", "delta-ALA synthetase", "delta-aminolevulinate synthase 2", "erythroid-specific delta-aminolevulinate synthase" ], "secondaryIds": [ "RGD:736755" ], "genomeLocations": [ { "strand": "-", "endPosition": 55030986, "chromosome": "X", "assembly": "GRCh38", "startPosition": 55009055 } ], "primaryId": "HGNC:397", "crossReferences": [ { "id": "ENSEMBL:ENSG00000158578" }, { "id": "NCBI_Gene:212" }, { "id": "PANTHER:PTHR13693" }, { "id": "UniProtKB:P22557" }, { "pages": [ "gene/references" ], "id": "RGD:736755" }, { "pages": [ "gene" ], "id": "HGNC:397" }, { "id": "RGD:736755" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALB", "geneSynopsis": "This gene encodes the most abundant protein in human blood. This protein functions in the regulation of blood plasma colloid osmotic pressure and acts as a carrier protein for a wide range of endogenous molecules including hormones, fatty acids, and metabolites, as well as exogenous drugs. Additionally, this protein exhibits an esterase-like activity with broad substrate specificity. The encoded preproprotein is proteolytically processed to generate the mature protein. A peptide derived from this protein, EPI-X4, is an endogenous inhibitor of the CXCR4 chemokine receptor. [provided by RefSeq, Jul 2016]", "soTermId": "SO:0001217", "name": "albumin", "basicGeneticEntity": { "synonyms": [ "ANALBA", "DKFZp779N1935", "FDAH", "FDAHT", "HSA", "PRO0883", "PRO0903", "PRO1341", "albumin (32 AA)", "albumin (AA 34)", "cell growth inhibiting protein 42", "growth-inhibiting protein 20", "serum albumin" ], "secondaryIds": [ "RGD:735404" ], "genomeLocations": [ { "strand": "+", "endPosition": 73426607, "chromosome": "4", "assembly": "GRCh38", "startPosition": 73397114 } ], "primaryId": "HGNC:399", "crossReferences": [ { "id": "ENSEMBL:ENSG00000163631" }, { "id": "NCBI_Gene:213" }, { "id": "PANTHER:PTHR11385" }, { "id": "UniProtKB:P02768" }, { "pages": [ "gene/references" ], "id": "RGD:735404" }, { "pages": [ "gene" ], "id": "HGNC:399" }, { "id": "RGD:735404" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALCAM", "geneSynopsis": "This gene encodes activated leukocyte cell adhesion molecule (ALCAM), also known as CD166 (cluster of differentiation 166), which is a member of a subfamily of immunoglobulin receptors with five immunoglobulin-like domains (VVC2C2C2) in the extracellular domain. This protein binds to T-cell differentiation antigene CD6, and is implicated in the processes of cell adhesion and migration. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2011]", "soTermId": "SO:0001217", "name": "activated leukocyte cell adhesion molecule", "basicGeneticEntity": { "synonyms": [ "CD166", "CD166 antigen", "FLJ38514", "MEMD", "MGC71733", "activated leucocyte cell adhesion molecule" ], "secondaryIds": [ "RGD:733283" ], "genomeLocations": [ { "strand": "+", "endPosition": 105576909, "chromosome": "3", "assembly": "GRCh38", "startPosition": 105366706 } ], "primaryId": "HGNC:400", "crossReferences": [ { "id": "ENSEMBL:ENSG00000170017" }, { "id": "NCBI_Gene:214" }, { "id": "PANTHER:PTHR11973" }, { "id": "UniProtKB:Q13740" }, { "pages": [ "gene/references" ], "id": "RGD:733283" }, { "pages": [ "gene" ], "id": "HGNC:400" }, { "id": "RGD:733283" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH16A1", "geneSynopsis": "This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish. The protein encoded by this gene interacts with maspardin, a protein that when truncated is responsible for Mast syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]", "soTermId": "SO:0001217", "name": "aldehyde dehydrogenase 16 family member A1", "basicGeneticEntity": { "synonyms": [ "MGC10204", "aldehyde dehydrogenase 16 family, member A1", "aldehyde dehydrogenase family 16 member A1" ], "secondaryIds": [ "RGD:1350465" ], "genomeLocations": [ { "strand": "+", "endPosition": 49471052, "chromosome": "19", "assembly": "GRCh38", "startPosition": 49453146 } ], "primaryId": "HGNC:28114", "crossReferences": [ { "id": "ENSEMBL:ENSG00000161618" }, { "id": "NCBI_Gene:126133" }, { "id": "PANTHER:PTHR11699" }, { "id": "UniProtKB:Q8IZ83" }, { "pages": [ "gene/references" ], "id": "RGD:1350465" }, { "pages": [ "gene" ], "id": "HGNC:28114" }, { "id": "RGD:1350465" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH18A1", "geneSynopsis": "This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "aldehyde dehydrogenase 18 family member A1", "basicGeneticEntity": { "synonyms": [ "ADCL3", "ARCL3A", "GSAS", "MGC117316", "P5CS", "PYCS", "SPG9", "SPG9A", "SPG9B", "Spastic paraplegia-9 (spastic paraparesis with amyotrophy, cataracts and gastroesophageal reflux)", "aldehyde dehydrogenase 18 family, member A1", "aldehyde dehydrogenase family 18 member A1", "delta-1-pyrroline-5-carboxylate synthase", "delta-1-pyrroline-5-carboxylate synthetase", "delta1-pyrroline-5-carboxlate synthetase", "pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)", "spastic paraplegia 9 (autosomal dominant)" ], "secondaryIds": [ "RGD:1350073" ], "genomeLocations": [ { "strand": "-", "endPosition": 95656841, "chromosome": "10", "assembly": "GRCh38", "startPosition": 95605937 } ], "primaryId": "HGNC:9722", "crossReferences": [ { "id": "ENSEMBL:ENSG00000059573" }, { "id": "NCBI_Gene:5832" }, { "id": "PANTHER:PTHR11063" }, { "id": "UniProtKB:P54886" }, { "pages": [ "gene/references" ], "id": "RGD:1350073" }, { "pages": [ "gene" ], "id": "HGNC:9722" }, { "id": "RGD:1350073" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH1A1", "geneSynopsis": "The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet. [provided by RefSeq, Mar 2011]", "soTermId": "SO:0001217", "name": "aldehyde dehydrogenase 1 family member A1", "basicGeneticEntity": { "synonyms": [ "3-deoxyglucosone dehydrogenase", "ALDC", "ALDH class 1", "ALDH-E1", "ALDH1", "ALDH11", "ALHDII", "HEL-9", "HEL-S-53e", "HEL12", "MGC2318", "PUMB1", "RALDH 1", "RALDH1", "acetaldehyde dehydrogenase 1", "aldehyde dehydrogenase 1 family, member A1", "aldehyde dehydrogenase 1, soluble", "aldehyde dehydrogenase 1A1", "aldehyde dehydrogenase family 1 member A1", "aldehyde dehydrogenase family 1, member a1", "aldehyde dehydrogenase, cytosolic", "aldehyde dehydrogenase, liver cytosolic", "epididymis luminal protein 12", "epididymis luminal protein 9", "epididymis secretory sperm binding protein Li 53e", "retinal dehydrogenase 1", "retinaldehyde dehydrogenase 1" ], "secondaryIds": [ "RGD:736747" ], "genomeLocations": [ { "strand": "-", "endPosition": 73080442, "chromosome": "9", "assembly": "GRCh38", "startPosition": 72900670 } ], "primaryId": "HGNC:402", "crossReferences": [ { "id": "ENSEMBL:ENSG00000165092" }, { "id": "NCBI_Gene:216" }, { "id": "PANTHER:PTHR11699" }, { "id": "UniProtKB:P00352" }, { "pages": [ "gene/references" ], "id": "RGD:736747" }, { "pages": [ "gene" ], "id": "HGNC:402" }, { "id": "RGD:736747" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH1A2", "geneSynopsis": "This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]", "soTermId": "SO:0001217", "name": "aldehyde dehydrogenase 1 family member A2", "basicGeneticEntity": { "synonyms": [ "DIH4", "MGC26444", "RALDH 2", "RALDH(II)", "RALDH2", "RALDH2-T", "aldehyde dehydrogenase 1 family, member A2", "aldehyde dehydrogenase family 1 member A2", "aldehyde dehydrogenase family 1, subfamily a2", "retinal dehydrogenase 2", "retinaldehyde-specific dehydrogenase type 2" ], "secondaryIds": [ "RGD:734163" ], "genomeLocations": [ { "strand": "-", "endPosition": 58497866, "chromosome": "15", "assembly": "GRCh38", "startPosition": 57953424 } ], "primaryId": "HGNC:15472", "crossReferences": [ { "id": "ENSEMBL:ENSG00000128918" }, { "id": "NCBI_Gene:8854" }, { "id": "PANTHER:PTHR11699" }, { "id": "UniProtKB:O94788" }, { "pages": [ "gene/references" ], "id": "RGD:734163" }, { "pages": [ "gene" ], "id": "HGNC:15472" }, { "id": "RGD:734163" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH1A2-AS1", "soTermId": "SO:0001263", "name": "ALDH1A2 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AC025431.1", "LOC283665", "novel transcript, antisense to ALDH1A2", "uncharacterized LOC283665" ], "secondaryIds": [ "RGD:38633242" ], "genomeLocations": [ { "strand": "+", "endPosition": 58072705, "chromosome": "15", "assembly": "GRCh38", "startPosition": 58065225 } ], "primaryId": "HGNC:27515", "crossReferences": [ { "id": "ENSEMBL:ENSG00000259285" }, { "id": "NCBI_Gene:283665" }, { "pages": [ "gene/references" ], "id": "RGD:38633242" }, { "pages": [ "gene" ], "id": "HGNC:27515" }, { "id": "RGD:38633242" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH1A3", "geneSynopsis": "This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]", "soTermId": "SO:0001217", "name": "aldehyde dehydrogenase 1 family member A3", "basicGeneticEntity": { "synonyms": [ "ALDH1A6", "ALDH6", "MCOP8", "RALDH-3", "RALDH3", "acetaldehyde dehydrogenase 6", "aldehyde dehydrogenase 1 family, member A3", "aldehyde dehydrogenase 6", "aldehyde dehydrogenase family 1 member A3", "retinaldehyde dehydrogenase 3" ], "secondaryIds": [ "RGD:1353558" ], "genomeLocations": [ { "strand": "+", "endPosition": 100916628, "chromosome": "15", "assembly": "GRCh38", "startPosition": 100861924 } ], "primaryId": "HGNC:409", "crossReferences": [ { "id": "ENSEMBL:ENSG00000184254" }, { "id": "NCBI_Gene:220" }, { "id": "PANTHER:PTHR11699" }, { "id": "UniProtKB:P47895" }, { "pages": [ "gene/references" ], "id": "RGD:1353558" }, { "pages": [ "gene" ], "id": "HGNC:409" }, { "id": "RGD:1353558" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH1A3-AS1", "geneSynopsis": "INTERACTS WITH sodium arsenite; titanium dioxide", "soTermId": "SO:0001263", "name": "ALDH1A3 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AC015712.2", "LOC101927751", "novel transcript, antisense to LRRK1 and ALDH1A3", "uncharacterized LOC101927751" ], "secondaryIds": [ "RGD:16562286" ], "genomeLocations": [ { "strand": "-", "endPosition": 100920312, "chromosome": "15", "assembly": "GRCh38", "startPosition": 100892343 } ], "primaryId": "HGNC:55416", "crossReferences": [ { "id": "ENSEMBL:ENSG00000259583" }, { "id": "NCBI_Gene:101927751" }, { "pages": [ "gene/references" ], "id": "RGD:16562286" }, { "pages": [ "gene" ], "id": "HGNC:55416" }, { "id": "RGD:16562286" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH1B1", "geneSynopsis": "This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "aldehyde dehydrogenase 1 family member B1", "basicGeneticEntity": { "synonyms": [ "ALDH class 2", "ALDH5", "ALDHX", "MGC2230", "acetaldehyde dehydrogenase 5", "aldehyde dehydrogenase 1 family, member B1", "aldehyde dehydrogenase 5", "aldehyde dehydrogenase X, mitochondrial", "aldehyde dehydrogenase family 1 member B1", "mitochondrial aldehyde dehydrogenase X" ], "secondaryIds": [ "RGD:1315525" ], "genomeLocations": [ { "strand": "+", "endPosition": 38398661, "chromosome": "9", "assembly": "GRCh38", "startPosition": 38392623 } ], "primaryId": "HGNC:407", "crossReferences": [ { "id": "ENSEMBL:ENSG00000137124" }, { "id": "NCBI_Gene:219" }, { "id": "PANTHER:PTHR11699" }, { "id": "UniProtKB:P30837" }, { "pages": [ "gene/references" ], "id": "RGD:1315525" }, { "pages": [ "gene" ], "id": "HGNC:407" }, { "id": "RGD:1315525" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH1L1", "geneSynopsis": "The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family. Loss of function or expression of this gene is associated with decreased apoptosis, increased cell motility, and cancer progression. There is an antisense transcript that overlaps on the opposite strand with this gene locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]", "soTermId": "SO:0001217", "name": "aldehyde dehydrogenase 1 family member L1", "basicGeneticEntity": { "synonyms": [ "10-FTHFDH", "10-fTHF", "10-formyltetrahydrofolate dehydrogenase", "DKFZp781N0997", "FDH", "FTHFD", "MER57B-ALDH1L1", "aldehyde dehydrogenase 1 family, member L1", "aldehyde dehydrogenase family 1 member L1", "cytosolic 10-formyltetrahydrofolate dehydrogenase", "formyltetrahydrofolate dehydrogenase" ], "secondaryIds": [ "RGD:1606025" ], "genomeLocations": [ { "strand": "-", "endPosition": 126197994, "chromosome": "3", "assembly": "GRCh38", "startPosition": 126103561 } ], "primaryId": "HGNC:3978", "crossReferences": [ { "id": "ENSEMBL:ENSG00000144908" }, { "id": "NCBI_Gene:10840" }, { "id": "PANTHER:PTHR11699" }, { "id": "UniProtKB:O75891" }, { "pages": [ "gene/references" ], "id": "RGD:1606025" }, { "pages": [ "gene" ], "id": "HGNC:3978" }, { "id": "RGD:1606025" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH1L1-AS1", "geneSynopsis": "INTERACTS WITH propofol", "soTermId": "SO:0001263", "name": "ALDH1L1 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AC079848.1", "LOC105374085", "LOC112267887", "LOC124906279", "RP11-124N2.2", "SLC41A3 antisense RNA 1", "SLC41A3-AS1", "novel transcript", "uncharacterized LOC105374085", "uncharacterized LOC112267887", "uncharacterized LOC124906279" ], "secondaryIds": [ "RGD:6481157" ], "genomeLocations": [ { "strand": "+", "endPosition": 126108070, "chromosome": "3", "assembly": "GRCh38", "startPosition": 126083650 } ], "primaryId": "HGNC:40244", "crossReferences": [ { "id": "ENSEMBL:ENSG00000250012" }, { "id": "ENSEMBL:ENSG00000250218" }, { "id": "NCBI_Gene:100874204" }, { "pages": [ "gene/references" ], "id": "RGD:6481157" }, { "pages": [ "gene" ], "id": "HGNC:40244" }, { "id": "RGD:6481157" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH1L1-AS2", "geneSynopsis": "INTERACTS WITH aflatoxin B1; benzo[a]pyrene; okadaic acid", "soTermId": "SO:0001263", "name": "ALDH1L1 antisense RNA 2", "basicGeneticEntity": { "synonyms": [ "FLJ40189" ], "secondaryIds": [ "RGD:5688412" ], "genomeLocations": [ { "strand": "+", "endPosition": 126210169, "chromosome": "3", "assembly": "GRCh38", "startPosition": 126180012 } ], "primaryId": "HGNC:42446", "crossReferences": [ { "id": "ENSEMBL:ENSG00000246022" }, { "id": "NCBI_Gene:100862662" }, { "pages": [ "gene/references" ], "id": "RGD:5688412" }, { "pages": [ "gene" ], "id": "HGNC:42446" }, { "id": "RGD:5688412" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH1L2", "geneSynopsis": "This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]", "soTermId": "SO:0001217", "name": "aldehyde dehydrogenase 1 family member L2", "basicGeneticEntity": { "synonyms": [ "10-formyltetrahydrofolate dehydrogenase ALDH1L2", "DKFZp686A16126", "DKFZp686M064", "DKFZp686P14145", "FLJ36769", "FLJ38508", "MGC119536", "MGC119537", "aldehyde dehydrogenase 1 family, member L2", "aldehyde dehydrogenase family 1 member L2", "aldehyde dehydrogenase family 1 member L2, mitochondrial", "mitochondrial 10-FTHFDH", "mitochondrial 10-formyltetrahydrofolate dehydrogenase", "mtFDH", "probable 10-formyltetrahydrofolate dehydrogenase ALDH1L2" ], "secondaryIds": [ "RGD:1345617" ], "genomeLocations": [ { "strand": "-", "endPosition": 105107643, "chromosome": "12", "assembly": "GRCh38", "startPosition": 105019784 } ], "primaryId": "HGNC:26777", "crossReferences": [ { "id": "ENSEMBL:ENSG00000136010" }, { "id": "NCBI_Gene:160428" }, { "id": "PANTHER:PTHR11699" }, { "id": "UniProtKB:Q3SY69" }, { "pages": [ "gene/references" ], "id": "RGD:1345617" }, { "pages": [ "gene" ], "id": "HGNC:26777" }, { "id": "RGD:1345617" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH2", "geneSynopsis": "This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of East Asians have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among East Asians than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Nov 2016]", "soTermId": "SO:0001217", "name": "aldehyde dehydrogenase 2 family member", "basicGeneticEntity": { "synonyms": [ "ALDH class 2", "ALDH-E2", "ALDHI", "ALDM", "MGC1806", "acetaldehyde dehydrogenase 2", "aldehyde dehydrogenase 2", "aldehyde dehydrogenase 2 family (mitochondrial)", "aldehyde dehydrogenase, mitochondrial", "liver mitochondrial ALDH", "nucleus-encoded mitochondrial aldehyde dehydrogenase 2" ], "secondaryIds": [ "RGD:69220" ], "genomeLocations": [ { "strand": "+", "endPosition": 111817532, "chromosome": "12", "assembly": "GRCh38", "startPosition": 111766887 } ], "primaryId": "HGNC:404", "crossReferences": [ { "id": "ENSEMBL:ENSG00000111275" }, { "id": "NCBI_Gene:217" }, { "id": "PANTHER:PTHR11699" }, { "id": "UniProtKB:P05091" }, { "pages": [ "gene/references" ], "id": "RGD:69220" }, { "pages": [ "gene" ], "id": "HGNC:404" }, { "id": "RGD:69220" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH3A1", "geneSynopsis": "Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]", "soTermId": "SO:0001217", "name": "aldehyde dehydrogenase 3 family member A1", "basicGeneticEntity": { "synonyms": [ "ALDH3", "ALDHIII", "MGC10406", "aldehyde dehydrogenase 3 family, member A1", "aldehyde dehydrogenase isozyme 3", "aldehyde dehydrogenase type III", "aldehyde dehydrogenase, dimeric NADP-preferring", "stomach aldehyde dehydrogenase" ], "secondaryIds": [ "RGD:733180" ], "genomeLocations": [ { "strand": "-", "endPosition": 19748943, "chromosome": "17", "assembly": "GRCh38", "startPosition": 19737984 } ], "primaryId": "HGNC:405", "crossReferences": [ { "id": "ENSEMBL:ENSG00000108602" }, { "id": "NCBI_Gene:218" }, { "id": "PANTHER:PTHR43570" }, { "id": "UniProtKB:P30838" }, { "pages": [ "gene/references" ], "id": "RGD:733180" }, { "pages": [ "gene" ], "id": "HGNC:405" }, { "id": "RGD:733180" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH3A2", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "aldehyde dehydrogenase 3 family member A2", "basicGeneticEntity": { "synonyms": [ "ALDH10", "DKFZp686E23276", "FALDH", "FLJ20851", "SLS", "aldehyde dehydrogenase 10", "aldehyde dehydrogenase 3 family, member A2", "aldehyde dehydrogenase family 3 member A2", "aldehyde dehydrogenase family 3, subfamily a2", "fatty aldehyde dehydrogenase", "microsomal aldehyde dehydrogenase" ], "secondaryIds": [ "RGD:737085" ], "genomeLocations": [ { "strand": "+", "endPosition": 19685760, "chromosome": "17", "assembly": "GRCh38", "startPosition": 19647291 } ], "primaryId": "HGNC:403", "crossReferences": [ { "id": "ENSEMBL:ENSG00000072210" }, { "id": "NCBI_Gene:224" }, { "id": "PANTHER:PTHR43570" }, { "id": "UniProtKB:P51648" }, { "pages": [ "gene/references" ], "id": "RGD:737085" }, { "pages": [ "gene" ], "id": "HGNC:403" }, { "id": "RGD:737085" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH3B1", "geneSynopsis": "This gene encodes a member of the aldehyde dehydrogenase protein family. Aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The encoded protein is able to oxidize long-chain fatty aldehydes in vitro, and may play a role in protection from oxidative stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]", "soTermId": "SO:0001217", "name": "aldehyde dehydrogenase 3 family member B1", "basicGeneticEntity": { "synonyms": [ "ALDH4", "ALDH7", "FLJ26433", "FLJ34710", "aldehyde dehydrogenase 3 family, member B1", "aldehyde dehydrogenase 3B1", "aldehyde dehydrogenase 7", "aldehyde dehydrogenase family 3 member B1", "long-chain fatty aldehyde dehydrogenase", "medium-chain fatty aldehyde dehydrogenase" ], "secondaryIds": [ "RGD:1349903" ], "genomeLocations": [ { "strand": "+", "endPosition": 68029282, "chromosome": "11", "assembly": "GRCh38", "startPosition": 68008547 } ], "primaryId": "HGNC:410", "crossReferences": [ { "id": "ENSEMBL:ENSG00000006534" }, { "id": "NCBI_Gene:221" }, { "id": "PANTHER:PTHR43570" }, { "id": "UniProtKB:P43353" }, { "pages": [ "gene/references" ], "id": "RGD:1349903" }, { "pages": [ "gene" ], "id": "HGNC:410" }, { "id": "RGD:1349903" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH3B2", "geneSynopsis": "This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10 kb in length. Altered methylation patterns at this locus have been observed in spermatozoa derived from patients exhibiting reduced fecundity. [provided by RefSeq, Aug 2017]", "soTermId": "SO:0001217", "name": "aldehyde dehydrogenase 3 family member B2", "basicGeneticEntity": { "synonyms": [ "ALDH8", "acetaldehyde dehydrogenase 8", "aldehyde dehydrogenase 3 family, member B2", "aldehyde dehydrogenase 8", "aldehyde dehydrogenase family 3 member B2", "long-chain fatty aldehyde dehydrogenase" ], "secondaryIds": [ "RGD:1318187" ], "genomeLocations": [ { "strand": "-", "endPosition": 67681252, "chromosome": "11", "assembly": "GRCh38", "startPosition": 67662155 } ], "primaryId": "HGNC:411", "crossReferences": [ { "id": "ENSEMBL:ENSG00000132746" }, { "id": "NCBI_Gene:222" }, { "id": "PANTHER:PTHR43570" }, { "id": "UniProtKB:P48448" }, { "pages": [ "gene/references" ], "id": "RGD:1318187" }, { "pages": [ "gene" ], "id": "HGNC:411" }, { "id": "RGD:1318187" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH4A1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "aldehyde dehydrogenase 4 family member A1", "basicGeneticEntity": { "synonyms": [ "ALDH4", "DKFZp779M035", "L-glutamate gamma-semialdehyde dehydrogenase", "P5C dehydrogenase", "P5CD", "P5CDh", "aldehyde dehydrogenase 4 family, member A1", "aldehyde dehydrogenase family 4 member A1", "delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial", "mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase" ], "secondaryIds": [ "RGD:1346272" ], "genomeLocations": [ { "strand": "-", "endPosition": 18902799, "chromosome": "1", "assembly": "GRCh38", "startPosition": 18871425 } ], "primaryId": "HGNC:406", "crossReferences": [ { "id": "ENSEMBL:ENSG00000159423" }, { "id": "NCBI_Gene:8659" }, { "id": "PANTHER:PTHR14516" }, { "id": "UniProtKB:P30038" }, { "pages": [ "gene/references" ], "id": "RGD:1346272" }, { "pages": [ "gene" ], "id": "HGNC:406" }, { "id": "RGD:1346272" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH5A1", "geneSynopsis": "This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "aldehyde dehydrogenase 5 family member A1", "basicGeneticEntity": { "synonyms": [ "NAD(+)-dependent succinic semialdehyde dehydrogenase", "SSADH", "SSDH", "aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)", "aldehyde dehydrogenase family 5 member A1", "aldehyde dehydrogenase family 5, subfamily a1", "mitochondrial succinate semialdehyde dehydrogenase", "succinate-semialdehyde dehydrogenase, mitochondrial" ], "secondaryIds": [ "RGD:735245" ], "genomeLocations": [ { "strand": "+", "endPosition": 24537207, "chromosome": "6", "assembly": "GRCh38", "startPosition": 24494798 } ], "primaryId": "HGNC:408", "crossReferences": [ { "id": "ENSEMBL:ENSG00000112294" }, { "id": "NCBI_Gene:7915" }, { "id": "PANTHER:PTHR43353" }, { "id": "UniProtKB:P51649" }, { "pages": [ "gene/references" ], "id": "RGD:735245" }, { "pages": [ "gene" ], "id": "HGNC:408" }, { "id": "RGD:735245" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH6A1", "geneSynopsis": "This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]", "soTermId": "SO:0001217", "name": "aldehyde dehydrogenase 6 family member A1", "basicGeneticEntity": { "synonyms": [ "MGC40271", "MMSADHA", "MMSDH", "aldehyde dehydrogenase 6 family, member A1", "aldehyde dehydrogenase family 6 member A1", "malonate-semialdehyde dehydrogenase", "malonate-semialdehyde dehydrogenase (acetylating)", "methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial", "methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial", "mitochondrial acylating methylmalonate-semialdehyde dehydrogenase", "testicular tissue protein Li 122" ], "secondaryIds": [ "RGD:1344188" ], "genomeLocations": [ { "strand": "-", "endPosition": 74084492, "chromosome": "14", "assembly": "GRCh38", "startPosition": 74056847 } ], "primaryId": "HGNC:7179", "crossReferences": [ { "id": "ENSEMBL:ENSG00000119711" }, { "id": "NCBI_Gene:4329" }, { "id": "PANTHER:PTHR43866" }, { "id": "UniProtKB:Q02252" }, { "pages": [ "gene/references" ], "id": "RGD:1344188" }, { "pages": [ "gene" ], "id": "HGNC:7179" }, { "id": "RGD:1344188" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH7A1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "aldehyde dehydrogenase 7 family member A1", "basicGeneticEntity": { "synonyms": [ "26g turgor protein homolog", "ATQ1", "EPD", "EPEO4", "FLJ11738", "FLJ92814", "P6c dehydrogenase", "PDE", "aldehyde dehydrogenase 7 family, member A1", "aldehyde dehydrogenase family 7 member A1", "alpha-AASA dehydrogenase", "alpha-aminoadipic semialdehyde dehydrogenase", "antiquitin 1", "antiquitin-1", "betaine aldehyde dehydrogenase", "delta1-piperideine-6-carboxylate dehydrogenase", "delta1-piperideine-6-carboxylate dehydrogenease" ], "secondaryIds": [ "RGD:1318489" ], "genomeLocations": [ { "strand": "-", "endPosition": 126595362, "chromosome": "5", "assembly": "GRCh38", "startPosition": 126531200 } ], "primaryId": "HGNC:877", "crossReferences": [ { "id": "ENSEMBL:ENSG00000164904" }, { "id": "NCBI_Gene:501" }, { "id": "PANTHER:PTHR43521" }, { "id": "UniProtKB:P49419" }, { "pages": [ "gene/references" ], "id": "RGD:1318489" }, { "pages": [ "gene" ], "id": "HGNC:877" }, { "id": "RGD:1318489" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH7A1P1", "geneSynopsis": "INTERACTS WITH copper atom; copper(0); okadaic acid", "soTermId": "SO:0000336", "name": "aldehyde dehydrogenase 7 family member A1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ATQL1", "antiquitin-like 1" ], "secondaryIds": [ "RGD:1352783" ], "genomeLocations": [ { "strand": "+", "endPosition": 77291997, "chromosome": "5", "assembly": "GRCh38", "startPosition": 77290184 } ], "primaryId": "HGNC:878", "crossReferences": [ { "id": "ENSEMBL:ENSG00000251400" }, { "id": "NCBI_Gene:541" }, { "pages": [ "gene/references" ], "id": "RGD:1352783" }, { "pages": [ "gene" ], "id": "HGNC:878" }, { "id": "RGD:1352783" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH7A1P2", "soTermId": "SO:0000336", "name": "aldehyde dehydrogenase 7 family member A1 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ATQL2", "aldehyde dehydrogenase 7 family, member A1 pseudogene 2" ], "secondaryIds": [ "RGD:1345188" ], "genomeLocations": [ { "strand": "-", "endPosition": 172894383, "chromosome": "2", "assembly": "GRCh38", "startPosition": 172893763 } ], "primaryId": "HGNC:879", "crossReferences": [ { "id": "ENSEMBL:ENSG00000232292" }, { "id": "NCBI_Gene:542" }, { "pages": [ "gene/references" ], "id": "RGD:1345188" }, { "pages": [ "gene" ], "id": "HGNC:879" }, { "id": "RGD:1345188" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH7A1P3", "soTermId": "SO:0000336", "name": "aldehyde dehydrogenase 7 family member A1 pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ATQL3" ], "secondaryIds": [ "RGD:1353754" ], "genomeLocations": [ { "strand": "-", "endPosition": 150542126, "chromosome": "7", "assembly": "GRCh38", "startPosition": 150541564 } ], "primaryId": "HGNC:880", "crossReferences": [ { "id": "ENSEMBL:ENSG00000243853" }, { "id": "NCBI_Gene:543" }, { "pages": [ "gene/references" ], "id": "RGD:1353754" }, { "pages": [ "gene" ], "id": "HGNC:880" }, { "id": "RGD:1353754" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH7A1P4", "soTermId": "SO:0000336", "name": "aldehyde dehydrogenase 7 family member A1 pseudogene 4", "basicGeneticEntity": { "synonyms": [ "ATQL4" ], "secondaryIds": [ "RGD:1350929" ], "genomeLocations": [ { "strand": "-", "endPosition": 62741394, "chromosome": "10", "assembly": "GRCh38", "startPosition": 62740990 } ], "primaryId": "HGNC:881", "crossReferences": [ { "id": "ENSEMBL:ENSG00000234489" }, { "id": "NCBI_Gene:544" }, { "pages": [ "gene/references" ], "id": "RGD:1350929" }, { "pages": [ "gene" ], "id": "HGNC:881" }, { "id": "RGD:1350929" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH8A1", "geneSynopsis": "This gene encodes a member of the aldehyde dehydrogenase family of proteins. The encoded protein has been implicated in the synthesis of 9-cis-retinoic acid and in the breakdown of the amino acid tryptophan. This enzyme converts 9-cis-retinal into the retinoid X receptor ligand 9-cis-retinoic acid, and has approximately 40-fold higher activity with 9-cis-retinal than with all-trans-retinal. In addition, this enzyme has been shown to catalyze the conversion of 2-aminomuconic semialdehyde to 2-aminomuconate in the kynurenine pathway of tryptophan catabolism. [provided by RefSeq, Jul 2018]", "soTermId": "SO:0001217", "name": "aldehyde dehydrogenase 8 family member A1", "basicGeneticEntity": { "synonyms": [ "2-aminomuconic semialdehyde dehydrogenase", "ALDH12", "DJ352A20.2", "DKFZp779D2315", "MGC138650", "aldehyde dehydogenase 8 family, member A1", "aldehyde dehydrogenase 12", "aldehyde dehydrogenase 8 family, member A1", "aldehyde dehydrogenase family 8 member A1", "aldehyde dehydrogenase family protein" ], "secondaryIds": [ "RGD:1319646" ], "genomeLocations": [ { "strand": "-", "endPosition": 134950129, "chromosome": "6", "assembly": "GRCh38", "startPosition": 134917298 } ], "primaryId": "HGNC:15471", "crossReferences": [ { "id": "ENSEMBL:ENSG00000118514" }, { "id": "NCBI_Gene:64577" }, { "id": "PANTHER:PTHR43720" }, { "id": "UniProtKB:Q9H2A2" }, { "pages": [ "gene/references" ], "id": "RGD:1319646" }, { "pages": [ "gene" ], "id": "HGNC:15471" }, { "id": "RGD:1319646" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDH9A1", "geneSynopsis": "This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-aminobutyric acid (GABA). This isozyme is a tetramer of identical 54-kD subunits. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "aldehyde dehydrogenase 9 family member A1", "basicGeneticEntity": { "synonyms": [ "4-trimethylaminobutyraldehyde dehydrogenase", "ALDH4", "ALDH7", "ALDH9", "E3", "R-aminobutyraldehyde dehydrogenase", "TMABA-DH", "TMABADH", "TMABALDH", "aldehyde dehydrogenase (NAD+)", "aldehyde dehydrogenase 9 family, member A1", "aldehyde dehydrogenase E3 isozyme", "aldehyde dehydrogenase family 9 member A1", "formaldehyde dehydrogenase", "gamma-aminobutyraldehyde dehydrogenase" ], "secondaryIds": [ "RGD:68603" ], "genomeLocations": [ { "strand": "-", "endPosition": 165698597, "chromosome": "1", "assembly": "GRCh38", "startPosition": 165662216 } ], "primaryId": "HGNC:412", "crossReferences": [ { "id": "ENSEMBL:ENSG00000143149" }, { "id": "NCBI_Gene:223" }, { "id": "PANTHER:PTHR11699" }, { "id": "UniProtKB:P49189" }, { "pages": [ "gene/references" ], "id": "RGD:68603" }, { "pages": [ "gene" ], "id": "HGNC:412" }, { "id": "RGD:68603" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDOA", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "aldolase, fructose-bisphosphate A", "basicGeneticEntity": { "synonyms": [ "ALDA", "GSD12", "HEL-S-87p", "aldolase A, fructose-bisphosphate", "epididymis secretory sperm binding protein Li 87p", "fructose-1,6-bisphosphate triosephosphate-lyase", "fructose-bisphosphate aldolase A", "lung cancer antigen NY-LU-1", "muscle-type aldolase" ], "secondaryIds": [ "RGD:30308195" ], "genomeLocations": [ { "strand": "+", "endPosition": 30070457, "chromosome": "16", "assembly": "GRCh38", "startPosition": 30064164 } ], "primaryId": "HGNC:414", "crossReferences": [ { "id": "ENSEMBL:ENSG00000149925" }, { "id": "NCBI_Gene:226" }, { "id": "PANTHER:PTHR11627" }, { "id": "UniProtKB:P04075" }, { "pages": [ "gene/references" ], "id": "RGD:30308195" }, { "pages": [ "gene" ], "id": "HGNC:414" }, { "id": "RGD:30308195" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDOAP1", "soTermId": "SO:0000336", "name": "ALDOA pseudogene 1", "basicGeneticEntity": { "synonyms": [ "aldolase, fructose-bisphosphate A pseudogene 1" ], "secondaryIds": [ "RGD:1343752" ], "genomeLocations": [ { "strand": "+", "endPosition": 52194991, "chromosome": "3", "assembly": "GRCh38", "startPosition": 52193045 } ], "primaryId": "HGNC:415", "crossReferences": [ { "id": "ENSEMBL:ENSG00000242849" }, { "id": "NCBI_Gene:391538" }, { "pages": [ "gene/references" ], "id": "RGD:1343752" }, { "pages": [ "gene" ], "id": "HGNC:415" }, { "id": "RGD:1343752" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDOAP2", "geneSynopsis": "INTERACTS WITH butanal; pentanal", "soTermId": "SO:0000336", "name": "ALDOA pseudogene 2", "basicGeneticEntity": { "synonyms": [ "aldolase, fructose-bisphosphate A pseudogene 2" ], "secondaryIds": [ "RGD:1345484" ], "genomeLocations": [ { "strand": "-", "endPosition": 125668056, "chromosome": "10", "assembly": "GRCh38", "startPosition": 125666680 } ], "primaryId": "HGNC:416", "crossReferences": [ { "id": "ENSEMBL:ENSG00000214297" }, { "id": "NCBI_Gene:228" }, { "pages": [ "gene/references" ], "id": "RGD:1345484" }, { "pages": [ "gene" ], "id": "HGNC:416" }, { "id": "RGD:1345484" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDOB", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "aldolase, fructose-bisphosphate B", "basicGeneticEntity": { "synonyms": [ "ALDB", "ALDO2", "aldolase 2", "aldolase B, fructose-bisphosphatase", "aldolase B, fructose-bisphosphate", "fructose-bisphosphate aldolase B", "liver-type aldolase" ], "secondaryIds": [ "RGD:737371" ], "genomeLocations": [ { "strand": "-", "endPosition": 101449664, "chromosome": "9", "assembly": "GRCh38", "startPosition": 101420560 } ], "primaryId": "HGNC:417", "crossReferences": [ { "id": "ENSEMBL:ENSG00000136872" }, { "id": "NCBI_Gene:229" }, { "id": "PANTHER:PTHR11627" }, { "id": "UniProtKB:P05062" }, { "pages": [ "gene/references" ], "id": "RGD:737371" }, { "pages": [ "gene" ], "id": "HGNC:417" }, { "id": "RGD:737371" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDOC", "geneSynopsis": "This gene encodes a member of the class I fructose-biphosphate aldolase gene family. Expressed specifically in the hippocampus and Purkinje cells of the brain, the encoded protein is a glycolytic enzyme that catalyzes the reversible aldol cleavage of fructose-1,6-biphosphate and fructose 1-phosphate to dihydroxyacetone phosphate and either glyceraldehyde-3-phosphate or glyceraldehyde, respectively. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "aldolase, fructose-bisphosphate C", "basicGeneticEntity": { "synonyms": [ "ALDC", "aldolase 3", "aldolase C, fructose-bisphosphate", "aldolase c, fructose-biphosphate", "brain-type aldolase", "fructoaldolase C", "fructose-1,6-biphosphate triosephosphate lyase", "fructose-bisphosphate aldolase C" ], "secondaryIds": [ "RGD:69125" ], "genomeLocations": [ { "strand": "-", "endPosition": 28576948, "chromosome": "17", "assembly": "GRCh38", "startPosition": 28573115 } ], "primaryId": "HGNC:418", "crossReferences": [ { "id": "ENSEMBL:ENSG00000109107" }, { "id": "NCBI_Gene:230" }, { "id": "PANTHER:PTHR11627" }, { "id": "UniProtKB:P09972" }, { "pages": [ "gene/references" ], "id": "RGD:69125" }, { "pages": [ "gene" ], "id": "HGNC:418" }, { "id": "RGD:69125" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALDOC-AS1", "soTermId": "SO:0001263", "name": "ALDOC antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:401850603" ], "primaryId": "HGNC:56941", "crossReferences": [ { "id": "NCBI_Gene:132591089" }, { "pages": [ "gene/references" ], "id": "RGD:401850603" }, { "pages": [ "gene" ], "id": "HGNC:56941" }, { "id": "RGD:401850603" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG1", "geneSynopsis": "The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]", "soTermId": "SO:0001217", "name": "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase", "basicGeneticEntity": { "synonyms": [ "ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase", "CDG1K", "GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase", "GDP-mannose-dolichol diphosphochitobiose mannosyltransferase", "HMAT1", "HMT-1", "HMT1", "MT-1", "Mat-1", "asparagine-linked glycosylation 1 homolog (S. cerevisiae, beta-1,4-mannosyltransferase)", "asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)", "asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog", "asparagine-linked glycosylation protein 1 homolog", "beta-1,4 mannosyltransferase", "beta-1,4-mannosyltransferase", "chitobiosyldiphosphodolichol beta-mannosyltransferase", "hMat-1", "mannosyltransferase-1", "mutant ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase" ], "secondaryIds": [ "RGD:1321758" ], "genomeLocations": [ { "strand": "+", "endPosition": 5087379, "chromosome": "16", "assembly": "GRCh38", "startPosition": 5033702 } ], "primaryId": "HGNC:18294", "crossReferences": [ { "id": "ENSEMBL:ENSG00000033011" }, { "id": "NCBI_Gene:56052" }, { "id": "PANTHER:PTHR13036" }, { "id": "UniProtKB:Q9BT22" }, { "pages": [ "gene/references" ], "id": "RGD:1321758" }, { "pages": [ "gene" ], "id": "HGNC:18294" }, { "id": "RGD:1321758" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG10", "geneSynopsis": "This gene encodes a membrane-associated protein that adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. That is, it transfers the terminal glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc2Man9GlcNAc(2)-PP-Dol. The rat protein homolog was shown to specifically modulate the gating function of the rat neuronal ether-a-go-go (EAG) potassium ion channel. [provided by RefSeq, Jan 2010]", "soTermId": "SO:0001217", "name": "ALG10 alpha-1,2-glucosyltransferase", "basicGeneticEntity": { "synonyms": [ "ALG10, alpha-1,2-glucosyltransferase", "ALG10A", "DIE2", "FLJ14751", "KCR1", "alpha-1,2-glucosyltransferase ALG10-A", "alpha-2-glucosyltransferase ALG10-A", "alpha2-glucosyltransferase", "asparagine-linked glycosylation 10 homolog (yeast, alpha-1,2-glucosyltransferase)", "asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog", "asparagine-linked glycosylation protein 10 homolog A", "derepression of ITR1 expression 2 homolog", "dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase", "dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase", "potassium channel regulator 1" ], "secondaryIds": [ "RGD:1345350" ], "genomeLocations": [ { "strand": "+", "endPosition": 34029694, "chromosome": "12", "assembly": "GRCh38", "startPosition": 34022377 } ], "primaryId": "HGNC:23162", "crossReferences": [ { "id": "ENSEMBL:ENSG00000139133" }, { "id": "NCBI_Gene:84920" }, { "id": "PANTHER:PTHR12989" }, { "id": "UniProtKB:Q5BKT4" }, { "pages": [ "gene/references" ], "id": "RGD:1345350" }, { "pages": [ "gene" ], "id": "HGNC:23162" }, { "id": "RGD:1345350" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG10B", "geneSynopsis": "Enables dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity. Involved in dolichol-linked oligosaccharide biosynthetic process. Located in plasma membrane. Is active in endoplasmic reticulum membrane. Implicated in long QT syndrome 2. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ALG10 alpha-1,2-glucosyltransferase B", "basicGeneticEntity": { "synonyms": [ "ALG10", "ALG10B, alpha-1,2-glucosyltransferase", "KCR1", "alpha-1,2-glucosyltransferase ALG10-A", "alpha-2-glucosyltransferase ALG10-B", "asparagine-linked glycosylation 10 homolog B (yeast, alpha-1,2-glucosyltransferase)", "asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B", "asparagine-linked glycosylation protein 10 homolog B", "dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase", "dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase", "modifier of the HERG potassium channel", "potassium channel regulator 1", "putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase", "putative alpha-1,2-glucosyltransferase ALG10-B" ], "secondaryIds": [ "RGD:1344377" ], "genomeLocations": [ { "strand": "+", "endPosition": 38329721, "chromosome": "12", "assembly": "GRCh38", "startPosition": 38316687 } ], "primaryId": "HGNC:31088", "crossReferences": [ { "id": "ENSEMBL:ENSG00000175548" }, { "id": "NCBI_Gene:144245" }, { "id": "PANTHER:PTHR12989" }, { "id": "UniProtKB:Q5I7T1" }, { "pages": [ "gene/references" ], "id": "RGD:1344377" }, { "pages": [ "gene" ], "id": "HGNC:31088" }, { "id": "RGD:1344377" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG11", "geneSynopsis": "This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010]", "soTermId": "SO:0001217", "name": "ALG11 alpha-1,2-mannosyltransferase", "basicGeneticEntity": { "synonyms": [ "ALG11, alpha-1,2-mannosyltransferase", "CDG1P", "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "GT8", "KIAA0266", "UTP14, U3 small nucleolar ribonucleoprotein, homolog C", "UTP14C", "asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog", "asparagine-linked glycosylation protein 11 homolog", "glycolipid 2-alpha-mannosyltransferase" ], "secondaryIds": [ "RGD:1604899" ], "genomeLocations": [ { "strand": "+", "endPosition": 52079232, "chromosome": "13", "assembly": "GRCh38", "startPosition": 52012391 } ], "primaryId": "HGNC:32456", "crossReferences": [ { "id": "ENSEMBL:ENSG00000253710" }, { "id": "NCBI_Gene:440138" }, { "id": "PANTHER:PTHR45919" }, { "id": "UniProtKB:Q2TAA5" }, { "pages": [ "gene/references" ], "id": "RGD:1604899" }, { "pages": [ "gene" ], "id": "HGNC:32456" }, { "id": "RGD:1604899" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG12", "geneSynopsis": "This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ALG12 alpha-1,6-mannosyltransferase", "basicGeneticEntity": { "synonyms": [ "ALG12, alpha-1,6-mannosyltransferase", "CDG1G", "ECM39", "MGC111358", "MGC3136", "PP14673", "asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase)", "asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)", "asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog", "asparagine-linked glycosylation protein 12 homolog", "dol-P-Man dependent alpha-1,6-mannosyltransferase", "dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase", "dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase", "dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase", "hALG12", "mannosyltransferase ALG12 homolog", "membrane protein SB87" ], "secondaryIds": [ "RGD:1312492" ], "genomeLocations": [ { "strand": "-", "endPosition": 49918458, "chromosome": "22", "assembly": "GRCh38", "startPosition": 49859311 } ], "primaryId": "HGNC:19358", "crossReferences": [ { "id": "ENSEMBL:ENSG00000182858" }, { "id": "NCBI_Gene:79087" }, { "id": "PANTHER:PTHR22760" }, { "id": "UniProtKB:Q9BV10" }, { "pages": [ "gene/references" ], "id": "RGD:1312492" }, { "pages": [ "gene" ], "id": "HGNC:19358" }, { "id": "RGD:1312492" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG13", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit", "basicGeneticEntity": { "synonyms": [ "ALG13, UDP-N-acetylglucosaminyltransferase subunit", "CDG1S", "CXorf45", "DEE36", "EIEE36", "FLJ23018", "GLT28D1", "MDS031", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase", "TDRD13", "UDP-N-acetylglucosamine transferase subunit ALG13", "UDP-N-acetylglucosamine transferase subunit ALG13 homolog", "YGL047W", "asparagine-linked glycosylation 13 homolog", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)", "chromosome X open reading frame 45", "glycosyltransferase 28 domain containing 1", "glycosyltransferase 28 domain-containing protein 1", "hematopoietic stem/progenitor cells protein MDS031", "putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13", "tudor domain containing 13", "uncharacterized hematopoietic stem/progenitor cells protein MDS031" ], "secondaryIds": [ "RGD:1351399" ], "genomeLocations": [ { "strand": "+", "endPosition": 111760649, "chromosome": "X", "assembly": "GRCh38", "startPosition": 111665811 } ], "primaryId": "HGNC:30881", "crossReferences": [ { "id": "ENSEMBL:ENSG00000101901" }, { "id": "NCBI_Gene:79868" }, { "id": "PANTHER:PTHR12867" }, { "id": "UniProtKB:Q9NP73" }, { "pages": [ "gene/references" ], "id": "RGD:1351399" }, { "pages": [ "gene" ], "id": "HGNC:30881" }, { "id": "RGD:1351399" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG13-AS1", "soTermId": "SO:0001263", "name": "ALG13 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:10400659" ], "genomeLocations": [ { "strand": "-", "endPosition": 111711101, "chromosome": "X", "assembly": "GRCh38", "startPosition": 111706649 } ], "primaryId": "HGNC:41277", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229487" }, { "id": "NCBI_Gene:106478971" }, { "pages": [ "gene/references" ], "id": "RGD:10400659" }, { "pages": [ "gene" ], "id": "HGNC:41277" }, { "id": "RGD:10400659" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG14", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit", "basicGeneticEntity": { "synonyms": [ "ALG14, UDP-N-acetylglucosaminyltransferase subunit", "CMS15", "CMSWTA", "IDDEBF", "MEPCA", "MGC19780", "UDP-N-acetylglucosamine transferase subunit ALG14", "UDP-N-acetylglucosamine transferase subunit ALG14 homolog" ], "secondaryIds": [ "RGD:1604512" ], "genomeLocations": [ { "strand": "-", "endPosition": 95072951, "chromosome": "1", "assembly": "GRCh38", "startPosition": 94974405 } ], "primaryId": "HGNC:28287", "crossReferences": [ { "id": "ENSEMBL:ENSG00000172339" }, { "id": "NCBI_Gene:199857" }, { "id": "PANTHER:PTHR12154" }, { "id": "UniProtKB:Q96F25" }, { "pages": [ "gene/references" ], "id": "RGD:1604512" }, { "pages": [ "gene" ], "id": "HGNC:28287" }, { "id": "RGD:1604512" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG14-AS1", "geneSynopsis": "INTERACTS WITH sodium arsenite", "soTermId": "SO:0001263", "name": "ALG14 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:14696762" ], "genomeLocations": [ { "strand": "+", "endPosition": 95067545, "chromosome": "1", "assembly": "GRCh38", "startPosition": 94926381 } ], "primaryId": "HGNC:41192", "crossReferences": [ { "id": "ENSEMBL:ENSG00000235501" }, { "id": "ENSEMBL:ENSG00000230427" }, { "id": "NCBI_Gene:101928098" }, { "pages": [ "gene/references" ], "id": "RGD:14696762" }, { "pages": [ "gene" ], "id": "HGNC:41192" }, { "id": "RGD:14696762" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG1L10P", "soTermId": "SO:0000336", "name": "ALG1 like 10, pseudogene", "basicGeneticEntity": { "synonyms": [ "asparagine-linked glycosylation 1-like 10, pseudogene" ], "secondaryIds": [ "RGD:10399345" ], "genomeLocations": [ { "strand": "+", "endPosition": 8231764, "chromosome": "12", "assembly": "GRCh38", "startPosition": 8227734 } ], "primaryId": "HGNC:44379", "crossReferences": [ { "id": "ENSEMBL:ENSG00000254016" }, { "id": "NCBI_Gene:106479037" }, { "pages": [ "gene/references" ], "id": "RGD:10399345" }, { "pages": [ "gene" ], "id": "HGNC:44379" }, { "id": "RGD:10399345" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG1L11P", "soTermId": "SO:0000336", "name": "ALG1 like 11, pseudogene", "basicGeneticEntity": { "synonyms": [ "asparagine-linked glycosylation 1-like 11, pseudogene" ], "secondaryIds": [ "RGD:10413514" ], "genomeLocations": [ { "strand": "+", "endPosition": 12182719, "chromosome": "8", "assembly": "GRCh38", "startPosition": 12178697 } ], "primaryId": "HGNC:44380", "crossReferences": [ { "id": "ENSEMBL:ENSG00000249889" }, { "id": "NCBI_Gene:106480789" }, { "pages": [ "gene/references" ], "id": "RGD:10413514" }, { "pages": [ "gene" ], "id": "HGNC:44380" }, { "id": "RGD:10413514" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG1L12P", "soTermId": "SO:0000336", "name": "ALG1 like 12, pseudogene", "basicGeneticEntity": { "synonyms": [ "asparagine-linked glycosylation 1-like 12, pseudogene" ], "secondaryIds": [ "RGD:6903413" ], "genomeLocations": [ { "strand": "+", "endPosition": 12426339, "chromosome": "8", "assembly": "GRCh38", "startPosition": 12421019 } ], "primaryId": "HGNC:44381", "crossReferences": [ { "id": "ENSEMBL:ENSG00000250794" }, { "id": "NCBI_Gene:100421097" }, { "pages": [ "gene/references" ], "id": "RGD:6903413" }, { "pages": [ "gene" ], "id": "HGNC:44381" }, { "id": "RGD:6903413" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG1L13P", "soTermId": "SO:0000336", "name": "ALG1 like 13, pseudogene", "basicGeneticEntity": { "synonyms": [ "asparagine-linked glycosylation 1-like 13, pseudogene" ], "secondaryIds": [ "RGD:10399659" ], "genomeLocations": [ { "strand": "-", "endPosition": 8244667, "chromosome": "8", "assembly": "GRCh38", "startPosition": 8236003 } ], "primaryId": "HGNC:44382", "crossReferences": [ { "id": "ENSEMBL:ENSG00000253981" }, { "id": "NCBI_Gene:106479038" }, { "pages": [ "gene/references" ], "id": "RGD:10399659" }, { "pages": [ "gene" ], "id": "HGNC:44382" }, { "id": "RGD:10399659" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG1L14P", "soTermId": "SO:0000336", "name": "ALG1 like 14, pseudogene", "basicGeneticEntity": { "synonyms": [ "asparagine-linked glycosylation 1-like 14, pseudogene" ], "secondaryIds": [ "RGD:6903415" ], "genomeLocations": [ { "strand": "-", "endPosition": 9170298, "chromosome": "4", "assembly": "GRCh38", "startPosition": 9166297 } ], "primaryId": "HGNC:44383", "crossReferences": [ { "id": "ENSEMBL:ENSG00000250268" }, { "id": "NCBI_Gene:100996649" }, { "pages": [ "gene/references" ], "id": "RGD:6903415" }, { "pages": [ "gene" ], "id": "HGNC:44383" }, { "id": "RGD:6903415" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG1L15P", "geneSynopsis": "INTERACTS WITH cadmium dichloride; sodium arsenite", "soTermId": "SO:0000336", "name": "ALG1 like 15, pseudogene", "basicGeneticEntity": { "synonyms": [ "asparagine-linked glycosylation 1-like 15, pseudogene" ], "secondaryIds": [ "RGD:6901169" ], "genomeLocations": [ { "strand": "-", "endPosition": 156044950, "chromosome": "3", "assembly": "GRCh38", "startPosition": 156044129 } ], "primaryId": "HGNC:44384", "crossReferences": [ { "id": "ENSEMBL:ENSG00000242017" }, { "id": "NCBI_Gene:730086" }, { "pages": [ "gene/references" ], "id": "RGD:6901169" }, { "pages": [ "gene" ], "id": "HGNC:44384" }, { "id": "RGD:6901169" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG1L1P", "geneSynopsis": "INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; iron dichloride", "soTermId": "SO:0000336", "name": "ALG1 like 1, pseudogene", "basicGeneticEntity": { "synonyms": [ "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like", "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like (pseudogene)", "ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase like", "ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like", "ALG1L", "ALG1L1", "asparagine-linked glycosylation 1-like 1", "beta-1,4-mannosyltransferase-like", "putative glycosyltransferase ALG1-like" ], "secondaryIds": [ "RGD:1605265" ], "genomeLocations": [ { "strand": "-", "endPosition": 125990537, "chromosome": "3", "assembly": "GRCh38", "startPosition": 125929272 } ], "primaryId": "HGNC:33721", "crossReferences": [ { "id": "ENSEMBL:ENSG00000189366" }, { "id": "ENSEMBL:ENSG00000291096" }, { "id": "NCBI_Gene:200810" }, { "pages": [ "gene/references" ], "id": "RGD:1605265" }, { "pages": [ "gene" ], "id": "HGNC:33721" }, { "id": "RGD:1605265" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG1L2", "geneSynopsis": "Predicted to enable mannosyltransferase activity. Predicted to be involved in protein glycosylation. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2", "basicGeneticEntity": { "synonyms": [ "ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase like 2", "ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2", "asparagine-linked glycosylation 1-like 2", "beta-1,4 mannosyltransferase-like", "putative glycosyltransferase ALG1L2" ], "secondaryIds": [ "RGD:3378598" ], "genomeLocations": [ { "strand": "+", "endPosition": 130113227, "chromosome": "3", "assembly": "GRCh38", "startPosition": 130081831 } ], "primaryId": "HGNC:37258", "crossReferences": [ { "id": "ENSEMBL:ENSG00000251287" }, { "id": "NCBI_Gene:644974" }, { "id": "PANTHER:PTHR13036" }, { "id": "UniProtKB:C9J202" }, { "pages": [ "gene/references" ], "id": "RGD:3378598" }, { "pages": [ "gene" ], "id": "HGNC:37258" }, { "id": "RGD:3378598" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG1L3P", "soTermId": "SO:0000336", "name": "ALG1 like 3, pseudogene", "basicGeneticEntity": { "synonyms": [ "asparagine-linked glycosylation 1-like 3, pseudogene" ], "secondaryIds": [ "RGD:6903417" ], "genomeLocations": [ { "strand": "-", "endPosition": 9710812, "chromosome": "4", "assembly": "GRCh38", "startPosition": 9702644 } ], "primaryId": "HGNC:44372", "crossReferences": [ { "id": "ENSEMBL:ENSG00000251087" }, { "id": "NCBI_Gene:100132066" }, { "pages": [ "gene/references" ], "id": "RGD:6903417" }, { "pages": [ "gene" ], "id": "HGNC:44372" }, { "id": "RGD:6903417" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG1L5P", "soTermId": "SO:0000336", "name": "ALG1 like 5, pseudogene", "basicGeneticEntity": { "synonyms": [ "asparagine-linked glycosylation 1-like 5, pseudogene" ], "secondaryIds": [ "RGD:6903436" ], "genomeLocations": [ { "strand": "+", "endPosition": 6931831, "chromosome": "7", "assembly": "GRCh38", "startPosition": 6923804 } ], "primaryId": "HGNC:44374", "crossReferences": [ { "id": "ENSEMBL:ENSG00000226943" }, { "id": "NCBI_Gene:647415" }, { "pages": [ "gene/references" ], "id": "RGD:6903436" }, { "pages": [ "gene" ], "id": "HGNC:44374" }, { "id": "RGD:6903436" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG1L6P", "geneSynopsis": "INTERACTS WITH acrylamide", "soTermId": "SO:0000336", "name": "ALG1 like 6, pseudogene", "basicGeneticEntity": { "synonyms": [ "asparagine-linked glycosylation 1-like 6, pseudogene" ], "secondaryIds": [ "RGD:6900943" ], "genomeLocations": [ { "strand": "+", "endPosition": 75424731, "chromosome": "3", "assembly": "GRCh38", "startPosition": 75415067 } ], "primaryId": "HGNC:44375", "crossReferences": [ { "id": "ENSEMBL:ENSG00000238278" }, { "id": "NCBI_Gene:339879" }, { "pages": [ "gene/references" ], "id": "RGD:6900943" }, { "pages": [ "gene" ], "id": "HGNC:44375" }, { "id": "RGD:6900943" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG1L7P", "soTermId": "SO:0000336", "name": "ALG1 like 7, pseudogene", "basicGeneticEntity": { "synonyms": [ "asparagine-linked glycosylation 1-like 7, pseudogene" ], "secondaryIds": [ "RGD:6901398" ], "genomeLocations": [ { "strand": "+", "endPosition": 3945048, "chromosome": "4", "assembly": "GRCh38", "startPosition": 3935446 } ], "primaryId": "HGNC:44376", "crossReferences": [ { "id": "ENSEMBL:ENSG00000251271" }, { "id": "NCBI_Gene:728263" }, { "pages": [ "gene/references" ], "id": "RGD:6901398" }, { "pages": [ "gene" ], "id": "HGNC:44376" }, { "id": "RGD:6901398" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG1L8P", "soTermId": "SO:0000336", "name": "ALG1 like 8, pseudogene", "basicGeneticEntity": { "synonyms": [ "asparagine-linked glycosylation 1-like 8, pseudogene" ], "secondaryIds": [ "RGD:6903419" ], "genomeLocations": [ { "strand": "+", "endPosition": 67793345, "chromosome": "11", "assembly": "GRCh38", "startPosition": 67785270 } ], "primaryId": "HGNC:44377", "crossReferences": [ { "id": "ENSEMBL:ENSG00000227620" }, { "id": "NCBI_Gene:645015" }, { "pages": [ "gene/references" ], "id": "RGD:6903419" }, { "pages": [ "gene" ], "id": "HGNC:44377" }, { "id": "RGD:6903419" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG1L9P", "geneSynopsis": "INTERACTS WITH fipronil; N,N-diethyl-m-toluamide", "soTermId": "SO:0000336", "name": "ALG1 like 9, pseudogene", "basicGeneticEntity": { "synonyms": [ "asparagine-linked glycosylation 1-like 9, pseudogene" ], "secondaryIds": [ "RGD:6903390" ], "genomeLocations": [ { "strand": "-", "endPosition": 71813859, "chromosome": "11", "assembly": "GRCh38", "startPosition": 71673885 } ], "primaryId": "HGNC:44378", "crossReferences": [ { "id": "ENSEMBL:ENSG00000293546" }, { "id": "ENSEMBL:ENSG00000248671" }, { "id": "ENSEMBL:ENSG00000254978" }, { "id": "NCBI_Gene:285407" }, { "pages": [ "gene/references" ], "id": "RGD:6903390" }, { "pages": [ "gene" ], "id": "HGNC:44378" }, { "id": "RGD:6903390" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG2", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ALG2 alpha-1,3/1,6-mannosyltransferase", "basicGeneticEntity": { "synonyms": [ "ALG2, alpha-1,3/1,6-mannosyltransferase", "CDG1I", "CDGIi", "CMS14", "CMSTA3", "FLJ14511", "GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase", "GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "NET38", "alpha-1,3-mannosyltransferase ALG2", "alpha-1,3/1,6-mannosyltransferase ALG2", "asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog", "asparagine-linked glycosylation protein 2 homolog", "hALPG2", "homolog of yeast ALG2" ], "secondaryIds": [ "RGD:1320554" ], "genomeLocations": [ { "strand": "-", "endPosition": 99221942, "chromosome": "9", "assembly": "GRCh38", "startPosition": 99216425 } ], "primaryId": "HGNC:23159", "crossReferences": [ { "id": "ENSEMBL:ENSG00000119523" }, { "id": "NCBI_Gene:85365" }, { "id": "PANTHER:PTHR45918" }, { "id": "UniProtKB:Q9H553" }, { "pages": [ "gene/references" ], "id": "RGD:1320554" }, { "pages": [ "gene" ], "id": "HGNC:23159" }, { "id": "RGD:1320554" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG3", "geneSynopsis": "This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]", "soTermId": "SO:0001217", "name": "ALG3 alpha-1,3- mannosyltransferase", "basicGeneticEntity": { "synonyms": [ "ALG3, alpha-1,3- mannosyltransferase", "CDG1D", "CDGS4", "CDGS6", "D16Ertd36e", "NOT56L", "Not56", "Not56-like protein", "asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)", "asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog", "asparagine-linked glycosylation protein 3 homolog", "carbohydrate deficient glycoprotein syndrome type IV", "dol-P-Man dependent alpha(1-3)-mannosyltransferase", "dol-P-Man dependent alpha-1,3- mannosyltransferase", "dol-P-Man-dependent alpha(1-3)-mannosyltransferase", "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase", "dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase", "not" ], "secondaryIds": [ "RGD:1314369" ], "genomeLocations": [ { "strand": "-", "endPosition": 184249548, "chromosome": "3", "assembly": "GRCh38", "startPosition": 184242301 } ], "primaryId": "HGNC:23056", "crossReferences": [ { "id": "ENSEMBL:ENSG00000214160" }, { "id": "NCBI_Gene:10195" }, { "id": "PANTHER:PTHR12646" }, { "id": "UniProtKB:Q92685" }, { "pages": [ "gene/references" ], "id": "RGD:1314369" }, { "pages": [ "gene" ], "id": "HGNC:23056" }, { "id": "RGD:1314369" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG3P1", "soTermId": "SO:0000336", "name": "ALG3 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ALG3, alpha-1,3- mannosyltransferase pseudogene 1" ], "secondaryIds": [ "RGD:7241605" ], "genomeLocations": [ { "strand": "-", "endPosition": 5376844, "chromosome": "5", "assembly": "GRCh38", "startPosition": 5375632 } ], "primaryId": "HGNC:45159", "crossReferences": [ { "id": "ENSEMBL:ENSG00000251568" }, { "id": "NCBI_Gene:442131" }, { "pages": [ "gene/references" ], "id": "RGD:7241605" }, { "pages": [ "gene" ], "id": "HGNC:45159" }, { "id": "RGD:7241605" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG5", "geneSynopsis": "This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]", "soTermId": "SO:0001217", "name": "ALG5 dolichyl-phosphate beta-glucosyltransferase", "basicGeneticEntity": { "synonyms": [ "ALG5, dolichyl-phosphate beta-glucosyltransferase", "Alg5, S. cerevisiae, homolog of", "PKD7", "RP11-421P11.2", "asparagine-linked glycosylation 5 homolog (S. cerevisiae, dolichyl-phosphate beta-glucosyltransferase)", "asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)", "asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog", "asparagine-linked glycosylation protein 5 homolog", "bA421P11.2", "dolP-glucosyltransferase", "dolichyl phosphate glucosyltransferase", "dolichyl-phosphate beta-glucosyltransferase" ], "secondaryIds": [ "RGD:1318934" ], "genomeLocations": [ { "strand": "-", "endPosition": 37000763, "chromosome": "13", "assembly": "GRCh38", "startPosition": 36949738 } ], "primaryId": "HGNC:20266", "crossReferences": [ { "id": "ENSEMBL:ENSG00000120697" }, { "id": "NCBI_Gene:29880" }, { "id": "PANTHER:PTHR10859" }, { "id": "UniProtKB:Q9Y673" }, { "pages": [ "gene/references" ], "id": "RGD:1318934" }, { "pages": [ "gene" ], "id": "HGNC:20266" }, { "id": "RGD:1318934" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG6", "geneSynopsis": "This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ALG6 alpha-1,3-glucosyltransferase", "basicGeneticEntity": { "synonyms": [ "ALG6, alpha-1,3-glucosyltransferase", "CDG1C", "Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase", "asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog", "asparagine-linked glycosylation protein 6 homolog", "dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase", "dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase", "dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase", "dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase", "dolichyl-P-Glc:Man9GlcNAc2-PP-dolichylglucosyltransferase" ], "secondaryIds": [ "RGD:1318803" ], "genomeLocations": [ { "strand": "+", "endPosition": 63438553, "chromosome": "1", "assembly": "GRCh38", "startPosition": 63367575 } ], "primaryId": "HGNC:23157", "crossReferences": [ { "id": "ENSEMBL:ENSG00000088035" }, { "id": "NCBI_Gene:29929" }, { "id": "PANTHER:PTHR12413" }, { "id": "UniProtKB:Q9Y672" }, { "pages": [ "gene/references" ], "id": "RGD:1318803" }, { "pages": [ "gene" ], "id": "HGNC:23157" }, { "id": "RGD:1318803" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG8", "geneSynopsis": "This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ALG8 alpha-1,3-glucosyltransferase", "basicGeneticEntity": { "synonyms": [ "ALG8, alpha-1,3-glucosyltransferase", "CDG1H", "HUSSY-02", "MGC2840", "PCLD3", "asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog", "asparagine-linked glycosylation protein 8 homolog", "dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase", "dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase", "dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase", "dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl-alpha-1,3-glucosyltransferase", "probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase" ], "secondaryIds": [ "RGD:1313512" ], "genomeLocations": [ { "strand": "-", "endPosition": 78139660, "chromosome": "11", "assembly": "GRCh38", "startPosition": 78095244 } ], "primaryId": "HGNC:23161", "crossReferences": [ { "id": "ENSEMBL:ENSG00000159063" }, { "id": "NCBI_Gene:79053" }, { "id": "PANTHER:PTHR12413" }, { "id": "UniProtKB:Q9BVK2" }, { "pages": [ "gene/references" ], "id": "RGD:1313512" }, { "pages": [ "gene" ], "id": "HGNC:23161" }, { "id": "RGD:1313512" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG9", "geneSynopsis": "This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]", "soTermId": "SO:0001217", "name": "ALG9 alpha-1,2-mannosyltransferase", "basicGeneticEntity": { "synonyms": [ "ALG9, alpha-1,2-mannosyltransferase", "CDG1L", "DIBD1", "DKFZp586M2420", "FLJ21845", "GIKANIS", "LOH11CR1J", "alpha-1,2-mannosyltransferase ALG9", "asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)", "asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)", "asparagine-linked glycosylation 9 homolog (yeast, alpha- 1,2-mannosyltransferase)", "asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog", "asparagine-linked glycosylation protein 9 homolog", "disrupted in bipolar affective disorder 1", "disrupted in bipolar disorder protein 1", "dol-P-Man dependent alpha-1,2-mannosyltransferase", "dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "loss of heterozygosity, 11, chromosomal region 1 gene J product" ], "secondaryIds": [ "RGD:1342764" ], "genomeLocations": [ { "strand": "-", "endPosition": 111872405, "chromosome": "11", "assembly": "GRCh38", "startPosition": 111768025 } ], "primaryId": "HGNC:15672", "crossReferences": [ { "id": "ENSEMBL:ENSG00000086848" }, { "id": "NCBI_Gene:79796" }, { "id": "PANTHER:PTHR22760" }, { "id": "UniProtKB:Q9H6U8" }, { "pages": [ "gene/references" ], "id": "RGD:1342764" }, { "pages": [ "gene" ], "id": "HGNC:15672" }, { "id": "RGD:1342764" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALG9-IT1", "soTermId": "SO:0001263", "name": "ALG9 intronic transcript 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481017" ], "genomeLocations": [ { "strand": "-", "endPosition": 111829212, "chromosome": "11", "assembly": "GRCh38", "startPosition": 111817214 } ], "primaryId": "HGNC:41409", "crossReferences": [ { "id": "ENSEMBL:ENSG00000254450" }, { "id": "NCBI_Gene:100874303" }, { "pages": [ "gene/references" ], "id": "RGD:6481017" }, { "pages": [ "gene" ], "id": "HGNC:41409" }, { "id": "RGD:6481017" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALK", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ALK receptor tyrosine kinase", "basicGeneticEntity": { "synonyms": [ "ALK tyrosine kinase receptor", "ALK1", "CD246", "CD246 antigen", "NBLST3", "TFG/ALK", "anaplastic lymphoma kinase", "anaplastic lymphoma kinase (ki-1)", "anaplastic lymphoma receptor tyrosine kinase", "mutant anaplastic lymphoma kinase" ], "secondaryIds": [ "RGD:1353820" ], "genomeLocations": [ { "strand": "-", "endPosition": 29921586, "chromosome": "2", "assembly": "GRCh38", "startPosition": 29192774 } ], "primaryId": "HGNC:427", "crossReferences": [ { "id": "ENSEMBL:ENSG00000171094" }, { "id": "NCBI_Gene:238" }, { "id": "PANTHER:PTHR24416" }, { "id": "UniProtKB:Q9UM73" }, { "pages": [ "gene/references" ], "id": "RGD:1353820" }, { "pages": [ "gene" ], "id": "HGNC:427" }, { "id": "RGD:1353820" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALKAL1", "geneSynopsis": "Enables protein tyrosine kinase activator activity and signaling receptor binding activity. Involved in cell surface receptor protein tyrosine kinase signaling pathway; positive regulation of MAPK cascade; and positive regulation of neuron projection development. Is active in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ALK and LTK ligand 1", "basicGeneticEntity": { "synonyms": [ "AUG-beta", "AUGA", "AUGB", "FAM150A", "MGC163513", "MGC163515", "RPLK9433", "UNQ9433", "augmentor beta", "augmentor-alpha", "family with sequence similarity 150 member A", "family with sequence similarity 150, member A", "hypothetical protein LOC389658" ], "secondaryIds": [ "RGD:1604440" ], "genomeLocations": [ { "strand": "-", "endPosition": 52565430, "chromosome": "8", "assembly": "GRCh38", "startPosition": 52534037 } ], "primaryId": "HGNC:33775", "crossReferences": [ { "id": "ENSEMBL:ENSG00000196711" }, { "id": "NCBI_Gene:389658" }, { "id": "PANTHER:PTHR28676" }, { "id": "UniProtKB:Q6UXT8" }, { "pages": [ "gene/references" ], "id": "RGD:1604440" }, { "pages": [ "gene" ], "id": "HGNC:33775" }, { "id": "RGD:1604440" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALKAL2", "geneSynopsis": "Enables protein tyrosine kinase activator activity and signaling receptor binding activity. Involved in cell surface receptor protein tyrosine kinase signaling pathway; positive regulation of MAPK cascade; and positive regulation of neuron projection development. Is active in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ALK and LTK ligand 2", "basicGeneticEntity": { "synonyms": [ "AUG-alpha", "AUGA", "FAM150B", "PRO1097", "RGPG542", "augmentor alpha", "augmentor-beta", "family with sequence similarity 150 member B", "family with sequence similarity 150, member B", "hypothetical protein LOC285016" ], "secondaryIds": [ "RGD:1602961" ], "genomeLocations": [ { "strand": "-", "endPosition": 289623, "chromosome": "2", "assembly": "GRCh38", "startPosition": 278286 } ], "primaryId": "HGNC:27683", "crossReferences": [ { "id": "ENSEMBL:ENSG00000189292" }, { "id": "NCBI_Gene:285016" }, { "id": "PANTHER:PTHR28676" }, { "id": "UniProtKB:Q6UX46" }, { "pages": [ "gene/references" ], "id": "RGD:1602961" }, { "pages": [ "gene" ], "id": "HGNC:27683" }, { "id": "RGD:1602961" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALKBH1", "geneSynopsis": "This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "alkB homolog 1, histone H2A dioxygenase", "basicGeneticEntity": { "synonyms": [ "ABH", "ABH1", "ALKBH", "DNA 6mA demethylase", "DNA N6-methyl adenine demethylase", "DNA N6-methyl adenine demethylase ALKBH1", "DNA demethylase ALKBH1", "DNA lyase ABH1", "DNA oxidative demethylase ALKBH1", "alkB", "alkB, alkylation repair homolog 1", "alkb, alkylation repair homolog (e. coli)", "alkylated DNA repair protein alkB homolog 1", "alkylation repair, alkB homolog", "alpha-ketoglutarate-dependent dioxygenase ABH1", "hABH", "mRNA N(3)-methylcytidine demethylase", "nucleic acid dioxygenase ALKBH1", "tRNA N1-methyl adenine demethylase" ], "secondaryIds": [ "RGD:1318033" ], "genomeLocations": [ { "strand": "-", "endPosition": 77708023, "chromosome": "14", "assembly": "GRCh38", "startPosition": 77672404 } ], "primaryId": "HGNC:17911", "crossReferences": [ { "id": "ENSEMBL:ENSG00000100601" }, { "id": "NCBI_Gene:8846" }, { "id": "PANTHER:PTHR16557" }, { "id": "UniProtKB:Q13686" }, { "pages": [ "gene/references" ], "id": "RGD:1318033" }, { "pages": [ "gene" ], "id": "HGNC:17911" }, { "id": "RGD:1318033" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALKBH2", "geneSynopsis": "The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 and ALKBH3 (MIM 610603) are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "alkB homolog 2, alpha-ketoglutarate dependent dioxygenase", "basicGeneticEntity": { "synonyms": [ "2OG-Fe(II) oxy DC1", "ABH2", "DNA oxidative demethylase ALKBH2", "FLJ99103", "MGC90512", "alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase", "alkB, alkylation repair homolog 2", "alkylated DNA repair protein alkB homolog 2", "alpha-ketoglutarate-dependent dioxygenase alkB homolog 2", "oxy DC1" ], "secondaryIds": [ "RGD:1605008" ], "genomeLocations": [ { "strand": "-", "endPosition": 109098462, "chromosome": "12", "assembly": "GRCh38", "startPosition": 109088188 } ], "primaryId": "HGNC:32487", "crossReferences": [ { "id": "ENSEMBL:ENSG00000189046" }, { "id": "NCBI_Gene:121642" }, { "id": "PANTHER:PTHR31573" }, { "id": "UniProtKB:Q6NS38" }, { "pages": [ "gene/references" ], "id": "RGD:1605008" }, { "pages": [ "gene" ], "id": "HGNC:32487" }, { "id": "RGD:1605008" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALKBH3", "geneSynopsis": "The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 (MIM 610602) and ALKBH3 are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "alkB homolog 3, alpha-ketoglutarate dependent dioxygenase", "basicGeneticEntity": { "synonyms": [ "ABH3", "DEPC-1", "DEPC1", "FLJ43614", "MGC118790", "MGC118792", "MGC118793", "PCA1", "alkB homolog 3, alpha-ketoglutarate-dependent dioxygenase", "alkB homolog 3, alpha-ketoglutaratedependent dioxygenase", "alkB, alkylation repair homolog 3", "alkylated DNA repair protein alkB homolog 3", "alpha-ketoglutarate-dependent dioxygenase alkB homolog 3", "hABH3", "prostate cancer antigen 1", "prostate cancer antigen-1" ], "secondaryIds": [ "RGD:1606677" ], "genomeLocations": [ { "strand": "+", "endPosition": 43920274, "chromosome": "11", "assembly": "GRCh38", "startPosition": 43880811 } ], "primaryId": "HGNC:30141", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166199" }, { "id": "NCBI_Gene:221120" }, { "id": "PANTHER:PTHR31212" }, { "id": "UniProtKB:Q96Q83" }, { "pages": [ "gene/references" ], "id": "RGD:1606677" }, { "pages": [ "gene" ], "id": "HGNC:30141" }, { "id": "RGD:1606677" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALKBH3-AS1", "soTermId": "SO:0001263", "name": "ALKBH3 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "RP11-613D13.7" ], "secondaryIds": [ "RGD:7253275" ], "genomeLocations": [ { "strand": "-", "endPosition": 43920944, "chromosome": "11", "assembly": "GRCh38", "startPosition": 43909289 } ], "primaryId": "HGNC:48670", "crossReferences": [ { "id": "ENSEMBL:ENSG00000244926" }, { "id": "NCBI_Gene:100507300" }, { "pages": [ "gene/references" ], "id": "RGD:7253275" }, { "pages": [ "gene" ], "id": "HGNC:48670" }, { "id": "RGD:7253275" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALKBH4", "geneSynopsis": "Enables 2-oxoglutarate-dependent dioxygenase activity and actin binding activity. Involved in actomyosin structure organization and cleavage furrow ingression. Located in contractile ring and midbody. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "alkB homolog 4, lysine demethylase", "basicGeneticEntity": { "synonyms": [ "ABH4", "DNA N6-methyl adenine demethylase ALKBH4", "FLJ20013", "alkB homolog 4, lysine demthylase", "alkB, alkylation repair homolog 4", "alkylated DNA repair protein alkB homolog 4", "alpha-ketoglutarate-dependent dioxygenase alkB homolog 4", "lysine-specific demethylase ALKBH4", "probable alpha-ketoglutarate-dependent dioxygenase ABH4" ], "secondaryIds": [ "RGD:1603303" ], "genomeLocations": [ { "strand": "-", "endPosition": 102464865, "chromosome": "7", "assembly": "GRCh38", "startPosition": 102456238 } ], "primaryId": "HGNC:21900", "crossReferences": [ { "id": "ENSEMBL:ENSG00000160993" }, { "id": "NCBI_Gene:54784" }, { "id": "PANTHER:PTHR12463" }, { "id": "UniProtKB:Q9NXW9" }, { "pages": [ "gene/references" ], "id": "RGD:1603303" }, { "pages": [ "gene" ], "id": "HGNC:21900" }, { "id": "RGD:1603303" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALKBH5", "geneSynopsis": "Enables mRNA N6-methyladenosine dioxygenase activity and molecular condensate scaffold activity. Involved in membraneless organelle assembly; post-transcriptional regulation of gene expression; and response to hypoxia. Acts upstream of or within regulation of mRNA export from nucleus and regulation of mRNA processing. Located in Golgi apparatus; cytosol; and nuclear speck. Is active in paraspeckles. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "alkB homolog 5, RNA demethylase", "basicGeneticEntity": { "synonyms": [ "ABH5", "AlkB family member 5, RNA demethylase", "FLJ20308", "OFOXD", "OFOXD1", "RNA demethylase ALKBH5", "alkB, alkylation repair homolog 5", "alkylated DNA repair protein alkB homolog 5", "alpha-ketoglutarate-dependent dioxygenase alkB homolog 5", "oxoglutarate and iron-dependent oxygenase domain containing", "probable alpha-ketoglutarate-dependent dioxygenase ABH5" ], "secondaryIds": [ "RGD:1603209" ], "genomeLocations": [ { "strand": "+", "endPosition": 18209954, "chromosome": "17", "assembly": "GRCh38", "startPosition": 18183078 } ], "primaryId": "HGNC:25996", "crossReferences": [ { "id": "ENSEMBL:ENSG00000091542" }, { "id": "NCBI_Gene:54890" }, { "id": "PANTHER:PTHR32074" }, { "id": "UniProtKB:Q6P6C2" }, { "pages": [ "gene/references" ], "id": "RGD:1603209" }, { "pages": [ "gene" ], "id": "HGNC:25996" }, { "id": "RGD:1603209" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALKBH6", "geneSynopsis": "Predicted to enable dioxygenase activity and metal ion binding activity. Located in focal adhesion and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "alkB homolog 6, nucleotide demethylase", "basicGeneticEntity": { "synonyms": [ "ABH6", "MGC15677", "alkB homolog 6", "alkB, alkylation repair homolog 6", "alkylated DNA repair protein alkB homolog 6", "alkylation repair homolog 6", "alpha-ketoglutarate-dependent dioxygenase alkB homolog 6", "probable RNA/DNA demethylase ALKBH6", "probable alpha-ketoglutarate-dependent dioxygenase ABH6", "probable nucleic acid dioxygenase ALKBH6", "putative RNA/DNA demethylase ALKBH6" ], "secondaryIds": [ "RGD:1605913" ], "genomeLocations": [ { "strand": "-", "endPosition": 36014297, "chromosome": "19", "assembly": "GRCh38", "startPosition": 36009120 } ], "primaryId": "HGNC:28243", "crossReferences": [ { "id": "ENSEMBL:ENSG00000239382" }, { "id": "NCBI_Gene:84964" }, { "id": "PANTHER:PTHR46030" }, { "id": "UniProtKB:Q3KRA9" }, { "pages": [ "gene/references" ], "id": "RGD:1605913" }, { "pages": [ "gene" ], "id": "HGNC:28243" }, { "id": "RGD:1605913" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALKBH7", "geneSynopsis": "Predicted to enable dioxygenase activity and metal ion binding activity. Involved in DNA damage response and regulation of mitochondrial membrane permeability involved in programmed necrotic cell death. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "alkB homolog 7, RNA demethylase", "basicGeneticEntity": { "synonyms": [ "ABH7", "MGC10974", "RNA demethylase ALKBH7, mitochondrial", "SPATA11", "UNQ6002", "alkB homolog 7", "alkB, alkylation repair homolog 7", "alkylated DNA repair protein alkB homolog 7", "alpha-ketoglutarate-dependent dioxygenase alkB homolog 7", "alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial", "pre-tRNA N1-methyl adenine demethylase ALKBH7", "pre-tRNA N2-dimethyl guanosine demethylase ALKBH7", "probable alpha-ketoglutarate-dependent dioxygenase ABH7", "spermatogenesis associated 11", "spermatogenesis cell proliferation related protein", "spermatogenesis cell proliferation-related protein", "spermatogenesis-associated protein 11" ], "secondaryIds": [ "RGD:1352016" ], "genomeLocations": [ { "strand": "+", "endPosition": 6375250, "chromosome": "19", "assembly": "GRCh38", "startPosition": 6372763 } ], "primaryId": "HGNC:21306", "crossReferences": [ { "id": "ENSEMBL:ENSG00000125652" }, { "id": "NCBI_Gene:84266" }, { "id": "PANTHER:PTHR21052" }, { "id": "UniProtKB:Q9BT30" }, { "pages": [ "gene/references" ], "id": "RGD:1352016" }, { "pages": [ "gene" ], "id": "HGNC:21306" }, { "id": "RGD:1352016" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALKBH8", "geneSynopsis": "Enables tRNA (uridine) methyltransferase activity; tRNA binding activity; and zinc ion binding activity. Involved in DNA damage response; tRNA methylation; and tRNA wobble uridine modification. Located in cytosol and nucleoplasm. Implicated in autosomal recessive intellectual developmental disorder 71. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "alkB homolog 8, tRNA methyltransferase", "basicGeneticEntity": { "synonyms": [ "ABH8", "AlkB homologue 8", "FLJ38204", "MGC10235", "MRT71", "S-adenosyl-L-methionine-dependent tRNA methyltransferase ABH8", "S-adenosyl-L-methionine-dependent tRNA methyltransferase ALKBH8", "TRM9", "TRMT9", "TRMT9A", "alkB, alkylation repair homolog 8", "alkylated DNA repair protein alkB homolog 8", "alpha-ketoglutarate-dependent dioxygenase ALKBH8", "probable alpha-ketoglutarate-dependent dioxygenase ABH8", "tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ABH8", "tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8", "tRNA methyltransferase 9 homolog", "tRNA methyltransferase 9 related" ], "secondaryIds": [ "RGD:1602194" ], "genomeLocations": [ { "strand": "-", "endPosition": 107565742, "chromosome": "11", "assembly": "GRCh38", "startPosition": 107502727 } ], "primaryId": "HGNC:25189", "crossReferences": [ { "id": "ENSEMBL:ENSG00000137760" }, { "id": "NCBI_Gene:91801" }, { "id": "PANTHER:PTHR13069" }, { "id": "UniProtKB:Q96BT7" }, { "pages": [ "gene/references" ], "id": "RGD:1602194" }, { "pages": [ "gene" ], "id": "HGNC:25189" }, { "id": "RGD:1602194" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALLC", "geneSynopsis": "Allantoicase (EC 3.5.3.4) participates in the uric acid degradation pathway. Its enzymatic activity, like that of urate oxidase (MIM 191540), was lost during vertebrate evolution.[supplied by OMIM, Nov 2008]", "soTermId": "SO:0001217", "name": "allantoicase", "basicGeneticEntity": { "synonyms": [ "ALC", "allantoate amidinohydrolase", "probable allantoicase", "probable inactive allantoicase", "putative inactive allantoicase" ], "secondaryIds": [ "RGD:736731" ], "genomeLocations": [ { "strand": "+", "endPosition": 3702671, "chromosome": "2", "assembly": "GRCh38", "startPosition": 3645819 } ], "primaryId": "HGNC:17377", "crossReferences": [ { "id": "ENSEMBL:ENSG00000151360" }, { "id": "NCBI_Gene:55821" }, { "id": "PANTHER:PTHR12045" }, { "id": "UniProtKB:Q8N6M5" }, { "pages": [ "gene/references" ], "id": "RGD:736731" }, { "pages": [ "gene" ], "id": "HGNC:17377" }, { "id": "RGD:736731" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALMS1", "geneSynopsis": "This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]", "soTermId": "SO:0001217", "name": "ALMS1 centrosome and basal body associated protein", "basicGeneticEntity": { "synonyms": [ "ALSS", "Alstrom syndrome 1", "Alstrom syndrome protein 1", "DKFZp686A118", "DKFZp686D1828", "KIAA0328", "centrosome-associated protein ALMS1" ], "secondaryIds": [ "RGD:1323128" ], "genomeLocations": [ { "strand": "+", "endPosition": 73625166, "chromosome": "2", "assembly": "GRCh38", "startPosition": 73385758 } ], "primaryId": "HGNC:428", "crossReferences": [ { "id": "ENSEMBL:ENSG00000116127" }, { "id": "NCBI_Gene:7840" }, { "id": "PANTHER:PTHR21553" }, { "id": "UniProtKB:Q8TCU4" }, { "pages": [ "gene/references" ], "id": "RGD:1323128" }, { "pages": [ "gene" ], "id": "HGNC:428" }, { "id": "RGD:1323128" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALMS1-IT1", "geneSynopsis": "INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; bisphenol A", "soTermId": "SO:0001263", "name": "ALMS1 intronic transcript 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481119" ], "genomeLocations": [ { "strand": "+", "endPosition": 73459482, "chromosome": "2", "assembly": "GRCh38", "startPosition": 73456764 } ], "primaryId": "HGNC:41305", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230002" }, { "id": "NCBI_Gene:100874291" }, { "pages": [ "gene/references" ], "id": "RGD:6481119" }, { "pages": [ "gene" ], "id": "HGNC:41305" }, { "id": "RGD:6481119" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALMS1P1", "geneSynopsis": "INTERACTS WITH cisplatin; copper(II) sulfate; S-(1,2-dichlorovinyl)-L-cysteine", "soTermId": "SO:0000336", "name": "ALMS1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ALMS1, centrosome and basal body associated protein pseudogene 1", "ALMS1L", "ALMS1P" ], "secondaryIds": [ "RGD:1606431" ], "genomeLocations": [ { "strand": "+", "endPosition": 73721352, "chromosome": "2", "assembly": "GRCh38", "startPosition": 73640723 } ], "primaryId": "HGNC:29586", "crossReferences": [ { "id": "ENSEMBL:ENSG00000290727" }, { "id": "ENSEMBL:ENSG00000163016" }, { "id": "NCBI_Gene:200420" }, { "pages": [ "gene/references" ], "id": "RGD:1606431" }, { "pages": [ "gene" ], "id": "HGNC:29586" }, { "id": "RGD:1606431" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALOX12", "geneSynopsis": "This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on different polyunsaturated fatty acid substrates to generate bioactive lipid mediators including eicosanoids and lipoxins. The encoded enzyme and its reaction products have been shown to regulate platelet function. Elevated expression of this gene has been observed in pancreatic islets derived from human diabetes patients. Allelic variants in this gene may be associated with susceptibility to toxoplasmosis. Multiple pseudogenes of this gene have been identified in the human genome. [provided by RefSeq, Aug 2017]", "soTermId": "SO:0001217", "name": "arachidonate 12-lipoxygenase, 12S type", "basicGeneticEntity": { "synonyms": [ "12(S)-lipoxygenase", "12-LOX", "12S-LOX", "12S-lipoxygenase", "LOG12", "arachidonate (12S)-lipoxygenase", "arachidonate (15S)-lipoxygenase", "arachidonate 12-lipoxygenase", "arachidonate 12-lipoxygenase, 12S-type", "arachidonate 15-lipoxygenase,15S-type", "linoleate 13S-lipoxygenase", "lipoxin synthase 12-LO", "platelet 12-LOX", "platelet-type 12-lipoxygenase", "platelet-type lipoxygenase 12", "polyunsaturated fatty acid lipoxygenase ALOX12" ], "secondaryIds": [ "RGD:1322469" ], "genomeLocations": [ { "strand": "+", "endPosition": 7010754, "chromosome": "17", "assembly": "GRCh38", "startPosition": 6996049 } ], "primaryId": "HGNC:429", "crossReferences": [ { "id": "ENSEMBL:ENSG00000108839" }, { "id": "NCBI_Gene:239" }, { "id": "PANTHER:PTHR11771" }, { "id": "UniProtKB:P18054" }, { "pages": [ "gene/references" ], "id": "RGD:1322469" }, { "pages": [ "gene" ], "id": "HGNC:429" }, { "id": "RGD:1322469" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALOX12-AS1", "geneSynopsis": "INTERACTS WITH acrylamide; okadaic acid; thiram", "soTermId": "SO:0001263", "name": "ALOX12 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:9587487" ], "genomeLocations": [ { "strand": "-", "endPosition": 7022133, "chromosome": "17", "assembly": "GRCh38", "startPosition": 6875220 } ], "primaryId": "HGNC:51342", "crossReferences": [ { "id": "ENSEMBL:ENSG00000267532" }, { "id": "ENSEMBL:ENSG00000215067" }, { "id": "NCBI_Gene:100506713" }, { "pages": [ "gene/references" ], "id": "RGD:9587487" }, { "pages": [ "gene" ], "id": "HGNC:51342" }, { "id": "RGD:9587487" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALOX12B", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "arachidonate 12-lipoxygenase, 12R type", "basicGeneticEntity": { "synonyms": [ "12R-LOX", "12R-lipoxygenase", "ARCI2", "arachidonate 12-lipoxygenase, 12R-type", "epidermis-type lipoxygenase 12" ], "secondaryIds": [ "RGD:1313295" ], "genomeLocations": [ { "strand": "-", "endPosition": 8087716, "chromosome": "17", "assembly": "GRCh38", "startPosition": 8072636 } ], "primaryId": "HGNC:430", "crossReferences": [ { "id": "ENSEMBL:ENSG00000179477" }, { "id": "NCBI_Gene:242" }, { "id": "PANTHER:PTHR11771" }, { "id": "UniProtKB:O75342" }, { "pages": [ "gene/references" ], "id": "RGD:1313295" }, { "pages": [ "gene" ], "id": "HGNC:430" }, { "id": "RGD:1313295" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALOX12P1", "geneSynopsis": "INTERACTS WITH aristolochic acid A", "soTermId": "SO:0000336", "name": "arachidonate 12-lipoxygenase pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ALOX12P" ], "secondaryIds": [ "RGD:1606590" ], "genomeLocations": [ { "strand": "+", "endPosition": 30542416, "chromosome": "17", "assembly": "GRCh38", "startPosition": 30529686 } ], "primaryId": "HGNC:431", "crossReferences": [ { "id": "ENSEMBL:ENSG00000264958" }, { "id": "NCBI_Gene:243" }, { "pages": [ "gene/references" ], "id": "RGD:1606590" }, { "pages": [ "gene" ], "id": "HGNC:431" }, { "id": "RGD:1606590" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALOX12P2", "geneSynopsis": "INTERACTS WITH benzo[a]pyrene; bisphenol A; fulvestrant", "soTermId": "SO:0000336", "name": "arachidonate 12-lipoxygenase pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ALOX12E", "MGC43625" ], "secondaryIds": [ "RGD:1354244" ], "genomeLocations": [ { "strand": "+", "endPosition": 6954107, "chromosome": "17", "assembly": "GRCh38", "startPosition": 6853576 } ], "primaryId": "HGNC:432", "crossReferences": [ { "id": "ENSEMBL:ENSG00000291084" }, { "id": "ENSEMBL:ENSG00000262943" }, { "id": "NCBI_Gene:245" }, { "pages": [ "gene/references" ], "id": "RGD:1354244" }, { "pages": [ "gene" ], "id": "HGNC:432" }, { "id": "RGD:1354244" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALOX15", "geneSynopsis": "This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on various polyunsaturated fatty acid substrates to generate various bioactive lipid mediators such as eicosanoids, hepoxilins, lipoxins, and other molecules. The encoded enzyme and its reaction products have been shown to regulate inflammation and immunity. Multiple pseudogenes of this gene have been identified in the human genome. [provided by RefSeq, Aug 2017]", "soTermId": "SO:0001217", "name": "arachidonate 15-lipoxygenase", "basicGeneticEntity": { "synonyms": [ "12-LOX", "12/15-lipoxygenase", "15-LOX", "15-LOX type 1", "15-LOX-1", "15-LOX2", "15-lipooxygenase-1", "15-lipoxygenase type 1", "15LOX-1", "LOG15", "arachidonate 12-lipoxygenase, leukocyte-type", "arachidonate omega-6 lipoxygenase", "hepoxilin A3 synthase Alox15", "linoleate 13S-lipoxygenase", "polyunsaturated fatty acid lipoxygenase ALOX15" ], "secondaryIds": [ "RGD:1352372" ], "genomeLocations": [ { "strand": "-", "endPosition": 4642294, "chromosome": "17", "assembly": "GRCh38", "startPosition": 4630919 } ], "primaryId": "HGNC:433", "crossReferences": [ { "id": "ENSEMBL:ENSG00000161905" }, { "id": "NCBI_Gene:246" }, { "id": "PANTHER:PTHR11771" }, { "id": "UniProtKB:P16050" }, { "pages": [ "gene/references" ], "id": "RGD:1352372" }, { "pages": [ "gene" ], "id": "HGNC:433" }, { "id": "RGD:1352372" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALOX15B", "geneSynopsis": "This gene encodes a member of the lipoxygenase family of structurally related nonheme iron dioxygenases involved in the production of fatty acid hydroperoxides. The encoded protein converts arachidonic acid exclusively to 15S-hydroperoxyeicosatetraenoic acid, while metabolizing linoleic acid less effectively. This gene is located in a cluster of related genes and a pseudogene that spans approximately 100 kilobases on the short arm of chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "arachidonate 15-lipoxygenase type B", "basicGeneticEntity": { "synonyms": [ "15-LOX-2", "15-LOX-B", "15-lipoxygenase 2", "15S-lipoxygenase", "arachidonate 15-lipoxygenase 2", "arachidonate 15-lipoxygenase B", "arachidonate 15-lipoxygenase type II", "arachidonate 15-lipoxygenase, second type", "arachidonate 15-lipoxygenase, type B", "arachidonate omega(6) lipoxygenase", "linoleate 13-lipoxygenase 15-LOb", "polyunsaturated fatty acid lipoxygenase ALOX15B" ], "secondaryIds": [ "RGD:731629" ], "genomeLocations": [ { "strand": "+", "endPosition": 8049134, "chromosome": "17", "assembly": "GRCh38", "startPosition": 8039011 } ], "primaryId": "HGNC:434", "crossReferences": [ { "id": "ENSEMBL:ENSG00000179593" }, { "id": "NCBI_Gene:247" }, { "id": "PANTHER:PTHR11771" }, { "id": "UniProtKB:O15296" }, { "pages": [ "gene/references" ], "id": "RGD:731629" }, { "pages": [ "gene" ], "id": "HGNC:434" }, { "id": "RGD:731629" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALOX15P1", "soTermId": "SO:0000336", "name": "arachidonate 15-lipoxygenase pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ALOX15P" ], "secondaryIds": [ "RGD:1345047" ], "genomeLocations": [ { "strand": "+", "endPosition": 6661413, "chromosome": "17", "assembly": "GRCh38", "startPosition": 6657214 } ], "primaryId": "HGNC:13742", "crossReferences": [ { "id": "ENSEMBL:ENSG00000274114" }, { "id": "NCBI_Gene:100652883" }, { "pages": [ "gene/references" ], "id": "RGD:1345047" }, { "pages": [ "gene" ], "id": "HGNC:13742" }, { "id": "RGD:1345047" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALOX15P2", "soTermId": "SO:0000336", "name": "arachidonate 15-lipoxygenase pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:4144232" ], "genomeLocations": [ { "strand": "+", "endPosition": 92921854, "chromosome": "9", "assembly": "GRCh38", "startPosition": 92913132 } ], "primaryId": "HGNC:39027", "crossReferences": [ { "id": "ENSEMBL:ENSG00000188101" }, { "id": "NCBI_Gene:642959" }, { "pages": [ "gene/references" ], "id": "RGD:4144232" }, { "pages": [ "gene" ], "id": "HGNC:39027" }, { "id": "RGD:4144232" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALOX5", "geneSynopsis": "This gene encodes a member of the lipoxygenase gene family and plays a dual role in the synthesis of leukotrienes from arachidonic acid. The encoded protein, which is expressed specifically in bone marrow-derived cells, catalyzes the conversion of arachidonic acid to 5(S)-hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid, and further to the allylic epoxide 5(S)-trans-7,9-trans-11,14-cis-eicosatetrenoic acid (leukotriene A4). Leukotrienes are important mediators of a number of inflammatory and allergic conditions. Mutations in the promoter region of this gene lead to a diminished response to antileukotriene drugs used in the treatment of asthma and may also be associated with atherosclerosis and several cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]", "soTermId": "SO:0001217", "name": "arachidonate 5-lipoxygenase", "basicGeneticEntity": { "synonyms": [ "5-LO", "5-LOX", "5-lipoxygenase", "5LPG", "LOG5", "LOX-5", "MGC163204", "arachidonic 5-lipoxygenase alpha-10 isoform", "arachidonic 5-lipoxygenase delta-10-13 isoform", "arachidonic 5-lipoxygenase delta-13 isoform", "arachidonic 5-lipoxygenase delta-p10 isoform", "arachidonic acid 5-lipoxygenase", "leukotriene A4 synthase", "polyunsaturated fatty acid 5-lipoxygenase" ], "secondaryIds": [ "RGD:732775" ], "genomeLocations": [ { "strand": "+", "endPosition": 45446121, "chromosome": "10", "assembly": "GRCh38", "startPosition": 45374150 } ], "primaryId": "HGNC:435", "crossReferences": [ { "id": "ENSEMBL:ENSG00000012779" }, { "id": "ENSEMBL:ENSG00000275565" }, { "id": "NCBI_Gene:240" }, { "id": "PANTHER:PTHR11771" }, { "id": "UniProtKB:P09917" }, { "pages": [ "gene/references" ], "id": "RGD:732775" }, { "pages": [ "gene" ], "id": "HGNC:435" }, { "id": "RGD:732775" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALOX5AP", "geneSynopsis": "This gene encodes a protein which, with 5-lipoxygenase, is required for leukotriene synthesis. Leukotrienes are arachidonic acid metabolites which have been implicated in various types of inflammatory responses, including asthma, arthritis and psoriasis. This protein localizes to the plasma membrane. Inhibitors of its function impede translocation of 5-lipoxygenase from the cytoplasm to the cell membrane and inhibit 5-lipoxygenase activation. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]", "soTermId": "SO:0001217", "name": "arachidonate 5-lipoxygenase activating protein", "basicGeneticEntity": { "synonyms": [ "FLAP", "MK-886-binding protein" ], "secondaryIds": [ "RGD:736460" ], "genomeLocations": [ { "strand": "+", "endPosition": 30765072, "chromosome": "13", "assembly": "GRCh38", "startPosition": 30713478 } ], "primaryId": "HGNC:436", "crossReferences": [ { "id": "ENSEMBL:ENSG00000132965" }, { "id": "NCBI_Gene:241" }, { "id": "PANTHER:PTHR10250" }, { "id": "UniProtKB:P20292" }, { "pages": [ "gene/references" ], "id": "RGD:736460" }, { "pages": [ "gene" ], "id": "HGNC:436" }, { "id": "RGD:736460" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALOXE3", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "arachidonate epidermal lipoxygenase 3", "basicGeneticEntity": { "synonyms": [ "ARCI3", "E-LOX", "Epidermal lipoxygenase-3", "LI5", "Lamellar ichthyosis 5", "MGC119694", "MGC119695", "MGC119696", "arachidonate lipoxygenase 3", "e-LOX-3", "eLOX-3", "eLOX3", "epidermal LOX-3", "epidermal lipoxygenase", "epidermis-type lipoxygenase 3", "hydroperoxide isomerase ALOXE3", "hydroperoxy dehydratase ALOXE3", "hydroperoxy icosatetraenoate dehydratase", "hydroperoxy icosatetraenoate isomerase" ], "secondaryIds": [ "RGD:1314765" ], "genomeLocations": [ { "strand": "-", "endPosition": 8119047, "chromosome": "17", "assembly": "GRCh38", "startPosition": 8095900 } ], "primaryId": "HGNC:13743", "crossReferences": [ { "id": "ENSEMBL:ENSG00000179148" }, { "id": "NCBI_Gene:59344" }, { "id": "PANTHER:PTHR11771" }, { "id": "UniProtKB:Q9BYJ1" }, { "pages": [ "gene/references" ], "id": "RGD:1314765" }, { "pages": [ "gene" ], "id": "HGNC:13743" }, { "id": "RGD:1314765" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALOXE3P1", "soTermId": "SO:0000336", "name": "arachidonate lipoxygenase 3 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6777891" ], "genomeLocations": [ { "strand": "+", "endPosition": 8072530, "chromosome": "17", "assembly": "GRCh38", "startPosition": 8071386 } ], "primaryId": "HGNC:44238", "crossReferences": [ { "id": "NCBI_Gene:100420216" }, { "pages": [ "gene/references" ], "id": "RGD:6777891" }, { "pages": [ "gene" ], "id": "HGNC:44238" }, { "id": "RGD:6777891" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALPG", "geneSynopsis": "There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The product of this gene is a membrane bound glycosylated enzyme, localized to testis, thymus and certain germ cell tumors, that is closely related to both the placental and intestinal forms of alkaline phosphatase. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "alkaline phosphatase, germ cell", "basicGeneticEntity": { "synonyms": [ "ALP-1", "ALPPL", "ALPPL2", "GCAP", "Nagao isozyme", "PLAP-like", "alkaline phosphatase Nagao isozyme", "alkaline phosphatase, germ cell type", "alkaline phosphatase, placental like 2", "alkaline phosphatase, placental-like", "alkaline phosphatase, placental-like 2", "germ cell alkaline phosphatase", "placental alkaline phosphatase-like", "placental-like alkaline phosphatase", "testicular and thymus alkaline phosphatase" ], "secondaryIds": [ "RGD:1347925" ], "genomeLocations": [ { "strand": "+", "endPosition": 232410714, "chromosome": "2", "assembly": "GRCh38", "startPosition": 232406844 } ], "primaryId": "HGNC:441", "crossReferences": [ { "id": "ENSEMBL:ENSG00000163286" }, { "id": "NCBI_Gene:251" }, { "id": "PANTHER:PTHR11596" }, { "id": "UniProtKB:P10696" }, { "pages": [ "gene/references" ], "id": "RGD:1347925" }, { "pages": [ "gene" ], "id": "HGNC:441" }, { "id": "RGD:1347925" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALPI", "geneSynopsis": "There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The intestinal alkaline phosphatase gene encodes a digestive brush-border enzyme. This enzyme is a component of the gut mucosal defense system and is thought to function in the detoxification of lipopolysaccharide, and in the prevention of bacterial translocation in the gut. [provided by RefSeq, Dec 2014]", "soTermId": "SO:0001217", "name": "alkaline phosphatase, intestinal", "basicGeneticEntity": { "synonyms": [ "IAP", "Kasahara isozyme", "alkaline phosphatase 1, intestinal, defined by ssr", "alkaline phosphomonoesterase", "glycerophosphatase", "intestinal alkaline phosphatase", "intestinal-type alkaline phosphatase" ], "secondaryIds": [ "RGD:737157" ], "genomeLocations": [ { "strand": "+", "endPosition": 232460753, "chromosome": "2", "assembly": "GRCh38", "startPosition": 232456125 } ], "primaryId": "HGNC:437", "crossReferences": [ { "id": "ENSEMBL:ENSG00000163295" }, { "id": "NCBI_Gene:248" }, { "id": "PANTHER:PTHR11596" }, { "id": "UniProtKB:P09923" }, { "pages": [ "gene/references" ], "id": "RGD:737157" }, { "pages": [ "gene" ], "id": "HGNC:437" }, { "id": "RGD:737157" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALPK1", "geneSynopsis": "This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]", "soTermId": "SO:0001217", "name": "alpha kinase 1", "basicGeneticEntity": { "synonyms": [ "8430410J10Rik", "FLJ22670", "KIAA1527", "LAK", "ROSAH", "alpha-kinase 1", "alpha-protein kinase 1", "chromosome 4 kinase", "lymphocyte alpha-kinase", "lymphocyte alpha-protein kinase" ], "secondaryIds": [ "RGD:1351787" ], "genomeLocations": [ { "strand": "+", "endPosition": 112442621, "chromosome": "4", "assembly": "GRCh38", "startPosition": 112285509 } ], "primaryId": "HGNC:20917", "crossReferences": [ { "id": "ENSEMBL:ENSG00000073331" }, { "id": "NCBI_Gene:80216" }, { "id": "PANTHER:PTHR46747" }, { "id": "UniProtKB:Q96QP1" }, { "pages": [ "gene/references" ], "id": "RGD:1351787" }, { "pages": [ "gene" ], "id": "HGNC:20917" }, { "id": "RGD:1351787" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALPK2", "geneSynopsis": "Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Involved in several processes, including epicardium morphogenesis; heart development; and negative regulation of Wnt signaling pathway involved in heart development. Acts upstream of or within regulation of gene expression. Located in basolateral plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "alpha kinase 2", "basicGeneticEntity": { "synonyms": [ "FLJ34875", "FLJ43253", "HAK", "alpha-kinase 2", "alpha-protein kinase 2", "heart alpha-kinase", "heart alpha-protein kinase" ], "secondaryIds": [ "RGD:1343226" ], "genomeLocations": [ { "strand": "-", "endPosition": 58629091, "chromosome": "18", "assembly": "GRCh38", "startPosition": 58481247 } ], "primaryId": "HGNC:20565", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198796" }, { "id": "NCBI_Gene:115701" }, { "id": "PANTHER:PTHR47091" }, { "id": "UniProtKB:Q86TB3" }, { "pages": [ "gene/references" ], "id": "RGD:1343226" }, { "pages": [ "gene" ], "id": "HGNC:20565" }, { "id": "RGD:1343226" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALPK2-AS1", "soTermId": "SO:0001263", "name": "ALPK2 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AC104971.2", "LOC105372145", "novel transcript, antisense to ALPK2", "uncharacterized LOC105372145" ], "secondaryIds": [ "RGD:38639580" ], "genomeLocations": [ { "strand": "+", "endPosition": 58566678, "chromosome": "18", "assembly": "GRCh38", "startPosition": 58557022 } ], "primaryId": "HGNC:58575", "crossReferences": [ { "id": "ENSEMBL:ENSG00000267579" }, { "id": "NCBI_Gene:105372145" }, { "pages": [ "gene/references" ], "id": "RGD:38639580" }, { "pages": [ "gene" ], "id": "HGNC:58575" }, { "id": "RGD:38639580" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALPK3", "geneSynopsis": "Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Predicted to be involved in cardiac muscle cell development. Predicted to be active in nucleus. Implicated in hypertrophic cardiomyopathy 27. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "alpha kinase 3", "basicGeneticEntity": { "synonyms": [ "CMH27", "FLJ12881", "FLJ21176", "KIAA1330", "MAK", "MIDORI", "alpha-kinase 3", "alpha-protein kinase 3", "muscle alpha-kinase", "muscle alpha-protein kinase", "myocyte induction differentiation originator" ], "secondaryIds": [ "RGD:1344760" ], "genomeLocations": [ { "strand": "+", "endPosition": 84873479, "chromosome": "15", "assembly": "GRCh38", "startPosition": 84817176 } ], "primaryId": "HGNC:17574", "crossReferences": [ { "id": "ENSEMBL:ENSG00000136383" }, { "id": "NCBI_Gene:57538" }, { "id": "PANTHER:PTHR47091" }, { "id": "UniProtKB:Q96L96" }, { "pages": [ "gene/references" ], "id": "RGD:1344760" }, { "pages": [ "gene" ], "id": "HGNC:17574" }, { "id": "RGD:1344760" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALPL", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "alkaline phosphatase, biomineralization associated", "basicGeneticEntity": { "synonyms": [ "AP-TNAP", "APTNAP", "FLJ40094", "FLJ93059", "HOPS", "HPPA", "HPPC", "HPPI", "HPPO", "MGC161443", "MGC167935", "TNALP", "TNAP", "TNS-ALP", "TNSALP", "alkaline phosphatase liver/bone/kidney isozyme", "alkaline phosphatase, liver/bone/kidney", "alkaline phosphatase, tissue-nonspecific isozyme", "alkaline phosphomonoesterase", "glycerophosphatase", "liver/bone/kidney-type alkaline phosphatase", "phosphoamidase", "phosphocreatine phosphatase", "tissue non-specific alkaline phosphatase", "tissue-nonspecific ALP" ], "secondaryIds": [ "RGD:1346147" ], "genomeLocations": [ { "strand": "+", "endPosition": 21578410, "chromosome": "1", "assembly": "GRCh38", "startPosition": 21508984 } ], "primaryId": "HGNC:438", "crossReferences": [ { "id": "ENSEMBL:ENSG00000162551" }, { "id": "NCBI_Gene:249" }, { "id": "PANTHER:PTHR11596" }, { "id": "UniProtKB:P05186" }, { "pages": [ "gene/references" ], "id": "RGD:1346147" }, { "pages": [ "gene" ], "id": "HGNC:438" }, { "id": "RGD:1346147" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALPP", "geneSynopsis": "The protein encoded by this gene is an alkaline phosphatase, a metalloenzyme that catalyzes the hydrolysis of phosphoric acid monoesters. It belongs to a multigene family composed of four alkaline phosphatase isoenzymes. The enzyme functions as a homodimer and has a catalytic site containing one magnesium and two zinc ions, which are required for its enzymatic function. One of the main sources of this enzyme is the liver, and thus, it's one of several indicators of liver injury in different clinical conditions. In pregnant women, this protein is primarily expressed in placental and endometrial tissue, however, strong ectopic expression has been detected in ovarian adenocarcinoma, serous cystadenocarcinoma, and other ovarian cancer cells. [provided by RefSeq, Aug 2020]", "soTermId": "SO:0001217", "name": "alkaline phosphatase, placental", "basicGeneticEntity": { "synonyms": [ "ALP", "ALPI", "FLJ61142", "IAP", "Intestinal alkaline phosphatase", "Intestinal-type alkaline phosphatase", "PALP", "PLAP", "PLAP-1", "Regan isozyme", "alkaline phosphatase Regan isozyme", "alkaline phosphatase, placental (Regan isozyme)", "alkaline phosphatase, placental type", "alkaline phosphomonoesterase", "glycerophosphatase", "placental alkaline phosphatase 1" ], "secondaryIds": [ "RGD:1314395" ], "genomeLocations": [ { "strand": "+", "endPosition": 232382889, "chromosome": "2", "assembly": "GRCh38", "startPosition": 232378724 } ], "primaryId": "HGNC:439", "crossReferences": [ { "id": "ENSEMBL:ENSG00000163283" }, { "id": "NCBI_Gene:250" }, { "id": "PANTHER:PTHR11596" }, { "id": "UniProtKB:P05187" }, { "pages": [ "gene/references" ], "id": "RGD:1314395" }, { "pages": [ "gene" ], "id": "HGNC:439" }, { "id": "RGD:1314395" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALPPP", "soTermId": "SO:0000336", "name": "alkaline phosphatase, pseudogene", "basicGeneticEntity": { "secondaryIds": [ "RGD:1346648" ], "primaryId": "HGNC:14016", "crossReferences": [ { "id": "NCBI_Gene:260330" }, { "pages": [ "gene/references" ], "id": "RGD:1346648" }, { "pages": [ "gene" ], "id": "HGNC:14016" }, { "id": "RGD:1346648" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALS2", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "alsin Rho guanine nucleotide exchange factor ALS2", "basicGeneticEntity": { "synonyms": [ "ALS2, alsin Rho guanine nucleotide exchange factor", "ALS2CR6", "ALSJ", "FLJ31851", "IAHSP", "KIAA1563", "MGC87187", "PLSJ", "alsin", "amyotrophic lateral sclerosis 2 (juvenile)", "amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein", "amyotrophic lateral sclerosis 2 protein" ], "secondaryIds": [ "RGD:1321241" ], "genomeLocations": [ { "strand": "-", "endPosition": 201782112, "chromosome": "2", "assembly": "GRCh38", "startPosition": 201700267 } ], "primaryId": "HGNC:443", "crossReferences": [ { "id": "ENSEMBL:ENSG00000003393" }, { "id": "NCBI_Gene:57679" }, { "id": "PANTHER:PTHR46089" }, { "id": "UniProtKB:Q96Q42" }, { "pages": [ "gene/references" ], "id": "RGD:1321241" }, { "pages": [ "gene" ], "id": "HGNC:443" }, { "id": "RGD:1321241" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALS2CL", "geneSynopsis": "Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in endosomal transport. Predicted to act upstream of or within protein localization. Predicted to be located in cytosol. Predicted to be active in cytoplasmic vesicle. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ALS2 C-terminal like", "basicGeneticEntity": { "synonyms": [ "ALS2 C-terminal-like protein", "DKFZp686P238", "MGC129698", "RN49018" ], "secondaryIds": [ "RGD:1605837" ], "genomeLocations": [ { "strand": "-", "endPosition": 46694071, "chromosome": "3", "assembly": "GRCh38", "startPosition": 46668994 } ], "primaryId": "HGNC:20605", "crossReferences": [ { "id": "ENSEMBL:ENSG00000178038" }, { "id": "NCBI_Gene:259173" }, { "id": "PANTHER:PTHR46089" }, { "id": "UniProtKB:Q60I27" }, { "pages": [ "gene/references" ], "id": "RGD:1605837" }, { "pages": [ "gene" ], "id": "HGNC:20605" }, { "id": "RGD:1605837" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALX1", "geneSynopsis": "The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ALX homeobox 1", "basicGeneticEntity": { "synonyms": [ "ALX homeobox protein 1", "CART-1", "CART1", "FND3", "HEL23", "cartilage paired-class homeoprotein 1", "epididymis luminal protein 23" ], "secondaryIds": [ "RGD:732877" ], "genomeLocations": [ { "strand": "+", "endPosition": 85301784, "chromosome": "12", "assembly": "GRCh38", "startPosition": 85280220 } ], "primaryId": "HGNC:1494", "crossReferences": [ { "id": "ENSEMBL:ENSG00000180318" }, { "id": "NCBI_Gene:8092" }, { "id": "PANTHER:PTHR24329" }, { "id": "UniProtKB:Q15699" }, { "pages": [ "gene/references" ], "id": "RGD:732877" }, { "pages": [ "gene" ], "id": "HGNC:1494" }, { "id": "RGD:732877" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALX3", "geneSynopsis": "This gene encodes a nuclear protein with a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development. Preferential methylation of this gene's promoter is associated with advanced-stage neuroblastoma tumors. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ALX homeobox 3", "basicGeneticEntity": { "synonyms": [ "FND", "FND1", "MGC138212", "MGC141988", "aristaless-like homeobox 3", "frontonasal dysplasia", "homeobox protein aristaless-like 3", "proline-rich transcription factor ALX3" ], "secondaryIds": [ "RGD:1352384" ], "genomeLocations": [ { "strand": "-", "endPosition": 110070672, "chromosome": "1", "assembly": "GRCh38", "startPosition": 110059870 } ], "primaryId": "HGNC:449", "crossReferences": [ { "id": "ENSEMBL:ENSG00000156150" }, { "id": "NCBI_Gene:257" }, { "id": "PANTHER:PTHR24329" }, { "id": "UniProtKB:O95076" }, { "pages": [ "gene/references" ], "id": "RGD:1352384" }, { "pages": [ "gene" ], "id": "HGNC:449" }, { "id": "RGD:1352384" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALX4", "geneSynopsis": "This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, cognitive disability, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009]", "soTermId": "SO:0001217", "name": "ALX homeobox 4", "basicGeneticEntity": { "synonyms": [ "CRS5", "FND2", "FPP", "KIAA1788", "PFM", "PFM1", "PFM2", "aristaless-like homeobox 4", "homeobox protein aristaless-like 4", "homeodomain transcription factor ALX4" ], "secondaryIds": [ "RGD:1320963" ], "genomeLocations": [ { "strand": "-", "endPosition": 44310139, "chromosome": "11", "assembly": "GRCh38", "startPosition": 44260440 } ], "primaryId": "HGNC:450", "crossReferences": [ { "id": "ENSEMBL:ENSG00000052850" }, { "id": "NCBI_Gene:60529" }, { "id": "PANTHER:PTHR24329" }, { "id": "UniProtKB:Q9H161" }, { "pages": [ "gene/references" ], "id": "RGD:1320963" }, { "pages": [ "gene" ], "id": "HGNC:450" }, { "id": "RGD:1320963" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ALYREF", "geneSynopsis": "The protein encoded by this gene is a heat stable, nuclear protein and functions as a molecular chaperone. It is thought to regulate dimerization, DNA binding, and transcriptional activity of basic region-leucine zipper (bZIP) proteins. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "Aly/REF export factor", "basicGeneticEntity": { "synonyms": [ "ALY", "ALY/REF", "BEF", "REF", "THO complex 4", "THO complex subunit 4", "THOC4", "ally of AML-1 and LEF-1", "bZIP enhancing factor", "bZIP-enhancing factor BEF", "tho4", "transcriptional coactivator Aly/REF" ], "secondaryIds": [ "RGD:1322669" ], "genomeLocations": [ { "strand": "-", "endPosition": 81891587, "chromosome": "17", "assembly": "GRCh38", "startPosition": 81887835 } ], "primaryId": "HGNC:19071", "crossReferences": [ { "id": "ENSEMBL:ENSG00000183684" }, { "id": "NCBI_Gene:10189" }, { "id": "PANTHER:PTHR19965" }, { "id": "UniProtKB:Q86V81" }, { "pages": [ "gene/references" ], "id": "RGD:1322669" }, { "pages": [ "gene" ], "id": "HGNC:19071" }, { "id": "RGD:1322669" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMACR", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "alpha-methylacyl-CoA racemase", "basicGeneticEntity": { "synonyms": [ "2-methylacyl-CoA racemase", "AMACRD", "CBAS4", "P504S", "RACE", "RM" ], "secondaryIds": [ "RGD:735888" ], "genomeLocations": [ { "strand": "-", "endPosition": 34008104, "chromosome": "5", "assembly": "GRCh38", "startPosition": 33986165 } ], "primaryId": "HGNC:451", "crossReferences": [ { "id": "ENSEMBL:ENSG00000242110" }, { "id": "NCBI_Gene:23600" }, { "id": "PANTHER:PTHR48228" }, { "id": "UniProtKB:Q9UHK6" }, { "pages": [ "gene/references" ], "id": "RGD:735888" }, { "pages": [ "gene" ], "id": "HGNC:451" }, { "id": "RGD:735888" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMANZI", "soTermId": "SO:0001263", "name": "a master non-coding RNA antagonizing inflammation", "basicGeneticEntity": { "secondaryIds": [ "RGD:401940089" ], "genomeLocations": [ { "strand": "+", "endPosition": 112844203, "chromosome": "2", "assembly": "GRCh38", "startPosition": 112839792 } ], "primaryId": "HGNC:55634", "crossReferences": [ { "id": "ENSEMBL:ENSG00000280228" }, { "id": "NCBI_Gene:133395149" }, { "pages": [ "gene/references" ], "id": "RGD:401940089" }, { "pages": [ "gene" ], "id": "HGNC:55634" }, { "id": "RGD:401940089" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMBN", "geneSynopsis": "This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. [provided by RefSeq, Aug 2011]", "soTermId": "SO:0001217", "name": "ameloblastin", "basicGeneticEntity": { "synonyms": [ "AI1F", "ameloblastin (enamel matrix protein)" ], "secondaryIds": [ "RGD:736409" ], "genomeLocations": [ { "strand": "+", "endPosition": 70607288, "chromosome": "4", "assembly": "GRCh38", "startPosition": 70592256 } ], "primaryId": "HGNC:452", "crossReferences": [ { "id": "ENSEMBL:ENSG00000178522" }, { "id": "NCBI_Gene:258" }, { "id": "PANTHER:PTHR14115" }, { "id": "UniProtKB:Q9NP70" }, { "pages": [ "gene/references" ], "id": "RGD:736409" }, { "pages": [ "gene" ], "id": "HGNC:452" }, { "id": "RGD:736409" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMBP", "geneSynopsis": "This gene encodes a complex glycoprotein secreted in plasma. The precursor is proteolytically processed into distinct functioning proteins: alpha-1-microglobulin, which belongs to the superfamily of lipocalin transport proteins and may play a role in the regulation of inflammatory processes, and bikunin, which is a urinary trypsin inhibitor belonging to the superfamily of Kunitz-type protease inhibitors and plays an important role in many physiological and pathological processes. This gene is located on chromosome 9 in a cluster of lipocalin genes. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "alpha-1-microglobulin/bikunin precursor", "basicGeneticEntity": { "synonyms": [ "A1M", "EDC1", "HCP", "HI30", "IATIL", "ITI", "ITIL", "ITILC", "UTI", "alpha 1 microglobulin/bikunin", "alpha-1-microglobulin/bikunin", "bikunin", "complex-forming glycoprotein heterogeneous in charge", "growth-inhibiting protein 19", "inter-alpha-trypsin inhibitor light chain", "protein HC", "trypstatin", "uristatin", "uronic-acid-rich protein" ], "secondaryIds": [ "RGD:735479" ], "genomeLocations": [ { "strand": "-", "endPosition": 114080970, "chromosome": "9", "assembly": "GRCh38", "startPosition": 114060127 } ], "primaryId": "HGNC:453", "crossReferences": [ { "id": "ENSEMBL:ENSG00000106927" }, { "id": "NCBI_Gene:259" }, { "id": "PANTHER:PTHR46676" }, { "id": "UniProtKB:P02760" }, { "pages": [ "gene/references" ], "id": "RGD:735479" }, { "pages": [ "gene" ], "id": "HGNC:453" }, { "id": "RGD:735479" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMBRA1", "geneSynopsis": "Enables enzyme binding activity; protein phosphatase activator activity; and ubiquitin-like ligase-substrate adaptor activity. Involved in several processes, including macroautophagy; positive regulation of free ubiquitin chain polymerization; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in cytosol. Part of Cul4-RING E3 ubiquitin ligase complex. Is active in cytoskeleton; mitochondrion; and nucleus. Biomarker of multiple system atrophy. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "autophagy and beclin 1 regulator 1", "basicGeneticEntity": { "synonyms": [ "DCAF3", "DDB1 and CUL4 associated factor 3", "FLJ20294", "KIAA1736", "MGC33725", "WD repeat domain 94", "WDR94", "activating molecule in BECN1-regulated autophagy protein 1", "activating molecule in beclin-1-regulated autophagy", "autophagy/beclin-1 regulator 1" ], "secondaryIds": [ "RGD:1604349" ], "genomeLocations": [ { "strand": "-", "endPosition": 46594125, "chromosome": "11", "assembly": "GRCh38", "startPosition": 46396412 } ], "primaryId": "HGNC:25990", "crossReferences": [ { "id": "ENSEMBL:ENSG00000110497" }, { "id": "NCBI_Gene:55626" }, { "id": "PANTHER:PTHR22874" }, { "id": "UniProtKB:Q9C0C7" }, { "pages": [ "gene/references" ], "id": "RGD:1604349" }, { "pages": [ "gene" ], "id": "HGNC:25990" }, { "id": "RGD:1604349" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMD1", "geneSynopsis": "This gene encodes an important intermediate enzyme in polyamine biosynthesis. The polyamines spermine, spermidine, and putrescine are low-molecular-weight aliphatic amines essential for cellular proliferation and tumor promotion. Multiple alternatively spliced transcript variants have been identified. Pseudogenes of this gene are found on chromosomes 5, 6, 10, X and Y. [provided by RefSeq, Dec 2013]", "soTermId": "SO:0001217", "name": "adenosylmethionine decarboxylase 1", "basicGeneticEntity": { "synonyms": [ "ADOMETDC", "AMD", "DKFZp313L1234", "FLJ26964", "S-adenosylmethionine decarboxylase 1", "S-adenosylmethionine decarboxylase proenzyme", "SAMDC" ], "secondaryIds": [ "RGD:1351440" ], "genomeLocations": [ { "strand": "+", "endPosition": 110898879, "chromosome": "6", "assembly": "GRCh38", "startPosition": 110814617 } ], "primaryId": "HGNC:457", "crossReferences": [ { "id": "ENSEMBL:ENSG00000123505" }, { "id": "NCBI_Gene:262" }, { "id": "PANTHER:PTHR11570" }, { "id": "UniProtKB:P17707" }, { "pages": [ "gene/references" ], "id": "RGD:1351440" }, { "pages": [ "gene" ], "id": "HGNC:457" }, { "id": "RGD:1351440" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMD1P1", "soTermId": "SO:0000336", "name": "adenosylmethionine decarboxylase 1 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:7204927" ], "genomeLocations": [ { "strand": "+", "endPosition": 20351100, "chromosome": "10", "assembly": "GRCh38", "startPosition": 20350049 } ], "primaryId": "HGNC:44898", "crossReferences": [ { "id": "ENSEMBL:ENSG00000228339" }, { "id": "NCBI_Gene:100133024" }, { "pages": [ "gene/references" ], "id": "RGD:7204927" }, { "pages": [ "gene" ], "id": "HGNC:44898" }, { "id": "RGD:7204927" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMD1P2", "soTermId": "SO:0000336", "name": "adenosylmethionine decarboxylase 1 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "AMD", "AMD2", "AMDP1", "AMDPX", "AMDPY" ], "secondaryIds": [ "RGD:1350121" ], "genomeLocations": [ { "strand": "-", "endPosition": 57016347, "chromosome": "Y", "assembly": "GRCh38", "startPosition": 57014616 }, { "strand": "-", "endPosition": 155829827, "chromosome": "X", "assembly": "GRCh38", "startPosition": 155828096 } ], "primaryId": "HGNC:460", "crossReferences": [ { "id": "ENSEMBL:ENSG00000292364" }, { "id": "ENSEMBL:ENSG00000237801" }, { "id": "NCBI_Gene:263" }, { "pages": [ "gene/references" ], "id": "RGD:1350121" }, { "pages": [ "gene" ], "id": "HGNC:460" }, { "id": "RGD:1350121" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMD1P3", "geneSynopsis": "INTERACTS WITH sodium arsenite", "soTermId": "SO:0000336", "name": "adenosylmethionine decarboxylase 1 pseudogene 3", "basicGeneticEntity": { "secondaryIds": [ "RGD:9840278" ], "genomeLocations": [ { "strand": "-", "endPosition": 43588822, "chromosome": "5", "assembly": "GRCh38", "startPosition": 43586363 } ], "primaryId": "HGNC:51608", "crossReferences": [ { "id": "ENSEMBL:ENSG00000249286" }, { "id": "NCBI_Gene:728931" }, { "pages": [ "gene/references" ], "id": "RGD:9840278" }, { "pages": [ "gene" ], "id": "HGNC:51608" }, { "id": "RGD:9840278" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMD1P4", "soTermId": "SO:0000336", "name": "adenosylmethionine decarboxylase 1 pseudogene 4", "basicGeneticEntity": { "secondaryIds": [ "RGD:9846229" ], "genomeLocations": [ { "strand": "-", "endPosition": 11862970, "chromosome": "6", "assembly": "GRCh38", "startPosition": 11861426 } ], "primaryId": "HGNC:51609", "crossReferences": [ { "id": "ENSEMBL:ENSG00000215124" }, { "id": "NCBI_Gene:100129761" }, { "pages": [ "gene/references" ], "id": "RGD:9846229" }, { "pages": [ "gene" ], "id": "HGNC:51609" }, { "id": "RGD:9846229" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMDHD1", "geneSynopsis": "Predicted to enable imidazolonepropionase activity. Predicted to be involved in L-histidine catabolic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "amidohydrolase domain containing 1", "basicGeneticEntity": { "synonyms": [ "HMFT1272", "MGC35366", "amidohydrolase domain-containing protein 1", "probable imidazolonepropionase" ], "secondaryIds": [ "RGD:1603900" ], "genomeLocations": [ { "strand": "+", "endPosition": 95968720, "chromosome": "12", "assembly": "GRCh38", "startPosition": 95943301 } ], "primaryId": "HGNC:28577", "crossReferences": [ { "id": "ENSEMBL:ENSG00000139344" }, { "id": "NCBI_Gene:144193" }, { "id": "PANTHER:PTHR42752" }, { "id": "UniProtKB:Q96NU7" }, { "pages": [ "gene/references" ], "id": "RGD:1603900" }, { "pages": [ "gene" ], "id": "HGNC:28577" }, { "id": "RGD:1603900" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMDHD2", "geneSynopsis": "Enables N-acetylglucosamine-6-phosphate deacetylase activity. Involved in negative regulation of UDP-N-acetylglucosamine biosynthetic process. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "amidohydrolase domain containing 2", "basicGeneticEntity": { "synonyms": [ "CGI-14", "N-acetylglucosamine-6-phosphate deacetylase", "amidohydrolase domain-containing protein 2", "glcNAc 6-P deacetylase", "putative N-acetylglucosamine-6-phosphate deacetylase" ], "secondaryIds": [ "RGD:1603049" ], "genomeLocations": [ { "strand": "+", "endPosition": 2531422, "chromosome": "16", "assembly": "GRCh38", "startPosition": 2520340 } ], "primaryId": "HGNC:24262", "crossReferences": [ { "id": "ENSEMBL:ENSG00000162066" }, { "id": "NCBI_Gene:51005" }, { "id": "PANTHER:PTHR11113" }, { "id": "UniProtKB:Q9Y303" }, { "pages": [ "gene/references" ], "id": "RGD:1603049" }, { "pages": [ "gene" ], "id": "HGNC:24262" }, { "id": "RGD:1603049" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMELX", "geneSynopsis": "This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "amelogenin X-linked", "basicGeneticEntity": { "synonyms": [ "AI1E", "AIH1", "ALGN", "AMG", "AMGL", "AMGX", "amelogenesis imperfecta 1", "amelogenin (X chromosome, amelogenesis imperfecta 1)", "amelogenin (amelogenesis imperfecta 1, X-linked)", "amelogenin, X isoform", "amelogenin, X-linked" ], "secondaryIds": [ "RGD:735379" ], "genomeLocations": [ { "strand": "+", "endPosition": 11309588, "chromosome": "X", "assembly": "GRCh38", "startPosition": 11293413 } ], "primaryId": "HGNC:461", "crossReferences": [ { "id": "ENSEMBL:ENSG00000125363" }, { "id": "NCBI_Gene:265" }, { "id": "PANTHER:PTHR46794" }, { "id": "UniProtKB:Q99217" }, { "pages": [ "gene/references" ], "id": "RGD:735379" }, { "pages": [ "gene" ], "id": "HGNC:461" }, { "id": "RGD:735379" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMELY", "geneSynopsis": "This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked amelogenesis imperfecta. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "amelogenin Y-linked", "basicGeneticEntity": { "synonyms": [ "AMGL", "AMGY", "amelogenin (Y chromosome)", "amelogenin, Y isoform", "amelogenin, Y-linked" ], "secondaryIds": [ "RGD:1343944" ], "genomeLocations": [ { "strand": "-", "endPosition": 6911752, "chromosome": "Y", "assembly": "GRCh38", "startPosition": 6865918 } ], "primaryId": "HGNC:462", "crossReferences": [ { "id": "ENSEMBL:ENSG00000099721" }, { "id": "NCBI_Gene:266" }, { "id": "PANTHER:PTHR46794" }, { "id": "UniProtKB:Q99218" }, { "pages": [ "gene/references" ], "id": "RGD:1343944" }, { "pages": [ "gene" ], "id": "HGNC:462" }, { "id": "RGD:1343944" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMER1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "APC membrane recruitment protein 1", "basicGeneticEntity": { "synonyms": [ "FAM123B", "FLJ39827", "OSCS", "RP11-403E24.2", "WTX", "Wilms tumor gene on the X chromosome protein", "Wilms tumor on the X", "adenomatous polyposis coli membrane recruitment 1", "family with sequence similarity 123B" ], "secondaryIds": [ "RGD:1606716" ], "genomeLocations": [ { "strand": "-", "endPosition": 64205708, "chromosome": "X", "assembly": "GRCh38", "startPosition": 64185117 } ], "primaryId": "HGNC:26837", "crossReferences": [ { "id": "ENSEMBL:ENSG00000184675" }, { "id": "NCBI_Gene:139285" }, { "id": "PANTHER:PTHR22237" }, { "id": "UniProtKB:Q5JTC6" }, { "pages": [ "gene/references" ], "id": "RGD:1606716" }, { "pages": [ "gene" ], "id": "HGNC:26837" }, { "id": "RGD:1606716" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMER2", "geneSynopsis": "Enables phosphatidylinositol-4,5-bisphosphate binding activity. Involved in negative regulation of canonical Wnt signaling pathway. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "APC membrane recruitment protein 2", "basicGeneticEntity": { "synonyms": [ "FAM123A", "FLJ25477", "family with sequence similarity 123A", "hypothetical protein LOC219287" ], "secondaryIds": [ "RGD:1604720" ], "genomeLocations": [ { "strand": "-", "endPosition": 25172288, "chromosome": "13", "assembly": "GRCh38", "startPosition": 25161679 } ], "primaryId": "HGNC:26360", "crossReferences": [ { "id": "ENSEMBL:ENSG00000165566" }, { "id": "NCBI_Gene:219287" }, { "id": "PANTHER:PTHR22237" }, { "id": "UniProtKB:Q8N7J2" }, { "pages": [ "gene/references" ], "id": "RGD:1604720" }, { "pages": [ "gene" ], "id": "HGNC:26360" }, { "id": "RGD:1604720" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMER3", "geneSynopsis": "Predicted to enable beta-catenin binding activity and phosphatidylinositol-4,5-bisphosphate binding activity. Predicted to be involved in regulation of canonical Wnt signaling pathway. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "APC membrane recruitment protein 3", "basicGeneticEntity": { "synonyms": [ "FAM123C", "FLJ38377", "family with sequence similarity 123C", "hypothetical protein LOC205147" ], "secondaryIds": [ "RGD:1601927" ], "genomeLocations": [ { "strand": "+", "endPosition": 130768134, "chromosome": "2", "assembly": "GRCh38", "startPosition": 130755540 } ], "primaryId": "HGNC:26771", "crossReferences": [ { "id": "ENSEMBL:ENSG00000178171" }, { "id": "NCBI_Gene:205147" }, { "id": "PANTHER:PTHR22237" }, { "id": "UniProtKB:Q8N944" }, { "pages": [ "gene/references" ], "id": "RGD:1601927" }, { "pages": [ "gene" ], "id": "HGNC:26771" }, { "id": "RGD:1601927" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMFR", "geneSynopsis": "This locus encodes a glycosylated transmembrane receptor. Its ligand, autocrine motility factor, is a tumor motility-stimulating protein secreted by tumor cells. The encoded receptor is also a member of the E3 ubiquitin ligase family of proteins. It catalyzes ubiquitination and endoplasmic reticulum-associated degradation of specific proteins. [provided by RefSeq, Feb 2012]", "soTermId": "SO:0001217", "name": "autocrine motility factor receptor", "basicGeneticEntity": { "synonyms": [ "AMF receptor, isoform 1", "AMF receptor, isoform 2", "E3 ubiquitin-protein ligase AMFR", "GP78", "RING finger protein 45", "RING-type E3 ubiquitin transferase AMFR", "RNF45", "SPG89", "autocrine motility factor receptor, E3 ubiquitin protein ligase", "autocrine motility factor receptor, isoform 1", "autocrine motility factor receptor, isoform 2" ], "secondaryIds": [ "RGD:1323068" ], "genomeLocations": [ { "strand": "-", "endPosition": 56425545, "chromosome": "16", "assembly": "GRCh38", "startPosition": 56361449 } ], "primaryId": "HGNC:463", "crossReferences": [ { "id": "ENSEMBL:ENSG00000159461" }, { "id": "NCBI_Gene:267" }, { "id": "PANTHER:PTHR15067" }, { "id": "UniProtKB:Q9UKV5" }, { "pages": [ "gene/references" ], "id": "RGD:1323068" }, { "pages": [ "gene" ], "id": "HGNC:463" }, { "id": "RGD:1323068" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMH", "geneSynopsis": "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 N- and C-terminal cleavage products that homodimerize and associate to form a biologically active noncovalent complex. This complex binds to the anti-Mullerian hormone receptor type 2 and causes the regression of Mullerian ducts in the male embryo that would otherwise differentiate into the uterus and fallopian tubes. This protein also plays a role in Leydig cell differentiation and function and follicular development in adult females. Mutations in this gene result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2016]", "soTermId": "SO:0001217", "name": "anti-Mullerian hormone", "basicGeneticEntity": { "synonyms": [ "MIF", "MIS", "Mullerian inhibiting factor", "Mullerian inhibiting substance", "anti-Muellerian hormone", "muellerian-inhibiting factor", "muellerian-inhibiting substance" ], "secondaryIds": [ "RGD:736161" ], "genomeLocations": [ { "strand": "+", "endPosition": 2252073, "chromosome": "19", "assembly": "GRCh38", "startPosition": 2249309 } ], "primaryId": "HGNC:464", "crossReferences": [ { "id": "ENSEMBL:ENSG00000104899" }, { "id": "NCBI_Gene:268" }, { "id": "PANTHER:PTHR15009" }, { "id": "UniProtKB:P03971" }, { "pages": [ "gene/references" ], "id": "RGD:736161" }, { "pages": [ "gene" ], "id": "HGNC:464" }, { "id": "RGD:736161" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMHR2", "geneSynopsis": "This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009]", "soTermId": "SO:0001217", "name": "anti-Mullerian hormone receptor type 2", "basicGeneticEntity": { "synonyms": [ "AMH type II receptor", "AMHR", "MIS type II receptor", "MISR2", "MISRII", "MRII", "Muellerian inhibiting substance type II receptor", "Mullerian inhibiting substance type II receptor", "anti-Muellerian hormone type II receptor", "anti-Muellerian hormone type-2 receptor", "anti-Mullerian hormone receptor type II", "anti-Mullerian hormone receptor, type II", "anti-mullerian hormone type 2 receptor" ], "secondaryIds": [ "RGD:733276" ], "genomeLocations": [ { "strand": "+", "endPosition": 53431672, "chromosome": "12", "assembly": "GRCh38", "startPosition": 53423672 } ], "primaryId": "HGNC:465", "crossReferences": [ { "id": "ENSEMBL:ENSG00000135409" }, { "id": "NCBI_Gene:269" }, { "id": "PANTHER:PTHR23255" }, { "id": "UniProtKB:Q16671" }, { "pages": [ "gene/references" ], "id": "RGD:733276" }, { "pages": [ "gene" ], "id": "HGNC:465" }, { "id": "RGD:733276" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMIGO1", "geneSynopsis": "Predicted to enable potassium channel regulator activity. Predicted to be involved in several processes, including heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; nervous system development; and positive regulation of nervous system development. Predicted to be located in dendrite; neuronal cell body membrane; and voltage-gated potassium channel complex. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "adhesion molecule with Ig like domain 1", "basicGeneticEntity": { "synonyms": [ "ALI2", "AMIGO", "AMIGO-1", "adhesion molecule with Ig-like domain 1", "alivin-2", "amphoterin-induced gene and ORF", "amphoterin-induced protein 1" ], "secondaryIds": [ "RGD:1606525" ], "genomeLocations": [ { "strand": "-", "endPosition": 109509738, "chromosome": "1", "assembly": "GRCh38", "startPosition": 109504178 } ], "primaryId": "HGNC:20824", "crossReferences": [ { "id": "ENSEMBL:ENSG00000181754" }, { "id": "NCBI_Gene:57463" }, { "id": "PANTHER:PTHR24368" }, { "id": "UniProtKB:Q86WK6" }, { "pages": [ "gene/references" ], "id": "RGD:1606525" }, { "pages": [ "gene" ], "id": "HGNC:20824" }, { "id": "RGD:1606525" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMIGO2", "geneSynopsis": "Predicted to be involved in several processes, including heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; homophilic cell adhesion via plasma membrane adhesion molecules; and positive regulation of synapse assembly. Predicted to be located in nucleus and plasma membrane. Predicted to be active in membrane. Biomarker of gastric adenocarcinoma. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "adhesion molecule with Ig like domain 2", "basicGeneticEntity": { "synonyms": [ "ALI1", "AMIGO-2", "DEGA", "adhesion molecule with Ig-like domain 2", "alivin 1", "alivin-1", "amphoterin induced gene 2", "amphoterin-induced protein 2", "differentially expressed in gastric adenocarcinoma", "differentially expressed in gastric adenocarcinomas", "transmembrane protein AMIGO2" ], "secondaryIds": [ "RGD:736884" ], "genomeLocations": [ { "strand": "-", "endPosition": 47080902, "chromosome": "12", "assembly": "GRCh38", "startPosition": 47075707 } ], "primaryId": "HGNC:24073", "crossReferences": [ { "id": "ENSEMBL:ENSG00000139211" }, { "id": "NCBI_Gene:347902" }, { "id": "PANTHER:PTHR24368" }, { "id": "UniProtKB:Q86SJ2" }, { "pages": [ "gene/references" ], "id": "RGD:736884" }, { "pages": [ "gene" ], "id": "HGNC:24073" }, { "id": "RGD:736884" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMIGO3", "geneSynopsis": "Predicted to be involved in brain development; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; and positive regulation of synapse assembly. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "adhesion molecule with Ig like domain 3", "basicGeneticEntity": { "synonyms": [ "ALI3", "AMIGO-3", "MGC120552", "adhesion molecule with Ig-like domain 3", "alivin-3", "amphoterin induced gene and orf 3", "amphoterin-induced gene and ORF 3", "amphoterin-induced protein 3" ], "secondaryIds": [ "RGD:735629" ], "genomeLocations": [ { "strand": "-", "endPosition": 49719684, "chromosome": "3", "assembly": "GRCh38", "startPosition": 49716829 } ], "primaryId": "HGNC:24075", "crossReferences": [ { "id": "ENSEMBL:ENSG00000176020" }, { "id": "NCBI_Gene:386724" }, { "id": "PANTHER:PTHR24368" }, { "id": "UniProtKB:Q86WK7" }, { "pages": [ "gene/references" ], "id": "RGD:735629" }, { "pages": [ "gene" ], "id": "HGNC:24075" }, { "id": "RGD:735629" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMMECR1", "geneSynopsis": "The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]", "soTermId": "SO:0001217", "name": "AMMECR nuclear protein 1", "basicGeneticEntity": { "synonyms": [ "AMME syndrome candidate gene 1 protein", "AMMERC1", "Alport syndrome mental retardation midface hypoplasia and elliptocytosis chromosomal region protein 1", "Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1", "Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region,", "MFHIEN", "nuclear protein AMMECR1" ], "secondaryIds": [ "RGD:1347096" ], "genomeLocations": [ { "strand": "-", "endPosition": 110440318, "chromosome": "X", "assembly": "GRCh38", "startPosition": 110194186 } ], "primaryId": "HGNC:467", "crossReferences": [ { "id": "ENSEMBL:ENSG00000101935" }, { "id": "NCBI_Gene:9949" }, { "id": "PANTHER:PTHR13016" }, { "id": "UniProtKB:Q9Y4X0" }, { "pages": [ "gene/references" ], "id": "RGD:1347096" }, { "pages": [ "gene" ], "id": "HGNC:467" }, { "id": "RGD:1347096" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMMECR1-IT1", "soTermId": "SO:0001263", "name": "AMMECR1 intronic transcript 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481065" ], "genomeLocations": [ { "strand": "-", "endPosition": 110307221, "chromosome": "X", "assembly": "GRCh38", "startPosition": 110305420 } ], "primaryId": "HGNC:41306", "crossReferences": [ { "id": "ENSEMBL:ENSG00000224142" }, { "id": "NCBI_Gene:100874352" }, { "pages": [ "gene/references" ], "id": "RGD:6481065" }, { "pages": [ "gene" ], "id": "HGNC:41306" }, { "id": "RGD:6481065" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMMECR1L", "geneSynopsis": "Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "AMMECR1 like", "basicGeneticEntity": { "synonyms": [ "AMME chromosomal region gene 1-like", "AMMECR1-like", "AMMECR1-like protein", "FLJ38552", "MGC4268" ], "secondaryIds": [ "RGD:1605931" ], "genomeLocations": [ { "strand": "-", "endPosition": 127885967, "chromosome": "2", "assembly": "GRCh38", "startPosition": 127861630 } ], "primaryId": "HGNC:28658", "crossReferences": [ { "id": "ENSEMBL:ENSG00000144233" }, { "id": "NCBI_Gene:83607" }, { "id": "PANTHER:PTHR13016" }, { "id": "UniProtKB:Q6DCA0" }, { "pages": [ "gene/references" ], "id": "RGD:1605931" }, { "pages": [ "gene" ], "id": "HGNC:28658" }, { "id": "RGD:1605931" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMMECR1LP1", "geneSynopsis": "INTERACTS WITH niclosamide", "soTermId": "SO:0000336", "name": "AMMECR1 like pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:5130582" ], "genomeLocations": [ { "strand": "+", "endPosition": 96574503, "chromosome": "13", "assembly": "GRCh38", "startPosition": 96573642 } ], "primaryId": "HGNC:39809", "crossReferences": [ { "id": "ENSEMBL:ENSG00000233273" }, { "id": "NCBI_Gene:100420921" }, { "pages": [ "gene/references" ], "id": "RGD:5130582" }, { "pages": [ "gene" ], "id": "HGNC:39809" }, { "id": "RGD:5130582" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMN", "geneSynopsis": "The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mouse AMN gene is expressed in the extraembryonic visceral endoderm layer during gastrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short gastrulation (Sog) and procollagen IIA proteins in Drosophila. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "amnion associated transmembrane protein", "basicGeneticEntity": { "synonyms": [ "IGS2", "PRO1028", "amnionless", "amnionless homolog", "visceral endoderm-specific type 1 transmembrane protein" ], "secondaryIds": [ "RGD:1318522" ], "genomeLocations": [ { "strand": "+", "endPosition": 102933596, "chromosome": "14", "assembly": "GRCh38", "startPosition": 102922663 } ], "primaryId": "HGNC:14604", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166126" }, { "id": "NCBI_Gene:81693" }, { "id": "PANTHER:PTHR14995" }, { "id": "UniProtKB:Q9BXJ7" }, { "pages": [ "gene/references" ], "id": "RGD:1318522" }, { "pages": [ "gene" ], "id": "HGNC:14604" }, { "id": "RGD:1318522" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMN1", "geneSynopsis": "Predicted to be involved in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process. Predicted to be part of SCF ubiquitin ligase complex. Predicted to be active in microvillus membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "antagonist of mitotic exit network 1 homolog", "basicGeneticEntity": { "synonyms": [ "protein AMN1 homolog" ], "secondaryIds": [ "RGD:1606942" ], "genomeLocations": [ { "strand": "-", "endPosition": 31729174, "chromosome": "12", "assembly": "GRCh38", "startPosition": 31671137 } ], "primaryId": "HGNC:27281", "crossReferences": [ { "id": "ENSEMBL:ENSG00000151743" }, { "id": "NCBI_Gene:196394" }, { "id": "PANTHER:PTHR13318" }, { "id": "UniProtKB:Q8IY45" }, { "pages": [ "gene/references" ], "id": "RGD:1606942" }, { "pages": [ "gene" ], "id": "HGNC:27281" }, { "id": "RGD:1606942" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMN1-AS1", "soTermId": "SO:0001263", "name": "AMN1 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:456868871" ], "genomeLocations": [ { "strand": "+", "endPosition": 31731204, "chromosome": "12", "assembly": "GRCh38", "startPosition": 31729117 } ], "primaryId": "HGNC:58137", "crossReferences": [ { "id": "ENSEMBL:ENSG00000276900" }, { "id": "NCBI_Gene:138842261" }, { "pages": [ "gene/references" ], "id": "RGD:456868871" }, { "pages": [ "gene" ], "id": "HGNC:58137" }, { "id": "RGD:456868871" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMOT", "geneSynopsis": "This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs. The encoded protein is expressed predominantly in endothelial cells of capillaries as well as larger vessels of the placenta where it may mediate the inhibitory effect of angiostatin on tube formation and the migration of endothelial cells toward growth factors during the formation of new blood vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "angiomotin", "basicGeneticEntity": { "synonyms": [ "KIAA1071", "angiomotin p130 isoform", "angiomotin p80 isoform" ], "secondaryIds": [ "RGD:1344662" ], "genomeLocations": [ { "strand": "-", "endPosition": 112840831, "chromosome": "X", "assembly": "GRCh38", "startPosition": 112774503 } ], "primaryId": "HGNC:17810", "crossReferences": [ { "id": "ENSEMBL:ENSG00000126016" }, { "id": "NCBI_Gene:154796" }, { "id": "PANTHER:PTHR14826" }, { "id": "UniProtKB:Q4VCS5" }, { "pages": [ "gene/references" ], "id": "RGD:1344662" }, { "pages": [ "gene" ], "id": "HGNC:17810" }, { "id": "RGD:1344662" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMOTL1", "geneSynopsis": "The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]", "soTermId": "SO:0001217", "name": "angiomotin like 1", "basicGeneticEntity": { "synonyms": [ "CFCHS", "JEAP", "angiomotin-like protein 1", "junction-enriched and associated protein" ], "secondaryIds": [ "RGD:1313196" ], "genomeLocations": [ { "strand": "+", "endPosition": 94876748, "chromosome": "11", "assembly": "GRCh38", "startPosition": 94706431 } ], "primaryId": "HGNC:17811", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166025" }, { "id": "NCBI_Gene:154810" }, { "id": "PANTHER:PTHR14826" }, { "id": "UniProtKB:Q8IY63" }, { "pages": [ "gene/references" ], "id": "RGD:1313196" }, { "pages": [ "gene" ], "id": "HGNC:17811" }, { "id": "RGD:1313196" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMOTL2", "geneSynopsis": "Angiomotin is a protein that binds angiostatin, a circulating inhibitor of the formation of new blood vessels (angiogenesis). Angiomotin mediates angiostatin inhibition of endothelial cell migration and tube formation in vitro. The protein encoded by this gene is related to angiomotin and is a member of the motin protein family. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]", "soTermId": "SO:0001217", "name": "angiomotin like 2", "basicGeneticEntity": { "synonyms": [ "LCCP", "Leman coiled-coil protein", "angiomotin-like protein 2" ], "secondaryIds": [ "RGD:737053" ], "genomeLocations": [ { "strand": "-", "endPosition": 134375479, "chromosome": "3", "assembly": "GRCh38", "startPosition": 134355345 } ], "primaryId": "HGNC:17812", "crossReferences": [ { "id": "ENSEMBL:ENSG00000114019" }, { "id": "NCBI_Gene:51421" }, { "id": "PANTHER:PTHR14826" }, { "id": "UniProtKB:Q9Y2J4" }, { "pages": [ "gene/references" ], "id": "RGD:737053" }, { "pages": [ "gene" ], "id": "HGNC:17812" }, { "id": "RGD:737053" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMPD1", "geneSynopsis": "Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]", "soTermId": "SO:0001217", "name": "adenosine monophosphate deaminase 1", "basicGeneticEntity": { "synonyms": [ "AMP deaminase 1", "AMPD", "MAD", "MADA", "MMDD", "adenosine monophosphate deaminase 1 (isoform M)", "adenosine monophosphate deaminase-1 (muscle)", "myoadenylate deaminase", "skeletal muscle AMPD" ], "secondaryIds": [ "RGD:735799" ], "genomeLocations": [ { "strand": "-", "endPosition": 114695618, "chromosome": "1", "assembly": "GRCh38", "startPosition": 114673090 } ], "primaryId": "HGNC:468", "crossReferences": [ { "id": "ENSEMBL:ENSG00000116748" }, { "id": "NCBI_Gene:270" }, { "id": "PANTHER:PTHR11359" }, { "id": "UniProtKB:P23109" }, { "pages": [ "gene/references" ], "id": "RGD:735799" }, { "pages": [ "gene" ], "id": "HGNC:468" }, { "id": "RGD:735799" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMPD2", "geneSynopsis": "The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]", "soTermId": "SO:0001217", "name": "adenosine monophosphate deaminase 2", "basicGeneticEntity": { "synonyms": [ "AMP deaminase 2", "AMPD", "PCH9", "SPG63", "adenosine monophosphate deaminase 2 (isoform L)" ], "secondaryIds": [ "RGD:1346106" ], "genomeLocations": [ { "strand": "+", "endPosition": 109632055, "chromosome": "1", "assembly": "GRCh38", "startPosition": 109616104 } ], "primaryId": "HGNC:469", "crossReferences": [ { "id": "ENSEMBL:ENSG00000116337" }, { "id": "NCBI_Gene:271" }, { "id": "PANTHER:PTHR11359" }, { "id": "UniProtKB:Q01433" }, { "pages": [ "gene/references" ], "id": "RGD:1346106" }, { "pages": [ "gene" ], "id": "HGNC:469" }, { "id": "RGD:1346106" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMPD2-AS1", "soTermId": "SO:0001263", "name": "AMPD2 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:616336052" ], "primaryId": "HGNC:40074", "crossReferences": [ { "id": "NCBI_Gene:141369867" }, { "pages": [ "gene/references" ], "id": "RGD:616336052" }, { "pages": [ "gene" ], "id": "HGNC:40074" }, { "id": "RGD:616336052" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMPD3", "geneSynopsis": "This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adenosine monophosphate deaminase 3", "basicGeneticEntity": { "synonyms": [ "AMP aminohydrolase", "AMP deaminase 3", "adenosine monophosphate deaminase (isoform E)", "erythrocyte AMP deaminase", "erythrocyte type AMP deaminase", "erythrocyte-specific AMP deaminase", "myoadenylate deaminase" ], "secondaryIds": [ "RGD:732010" ], "genomeLocations": [ { "strand": "+", "endPosition": 10507877, "chromosome": "11", "assembly": "GRCh38", "startPosition": 10308162 } ], "primaryId": "HGNC:470", "crossReferences": [ { "id": "ENSEMBL:ENSG00000133805" }, { "id": "NCBI_Gene:272" }, { "id": "PANTHER:PTHR11359" }, { "id": "UniProtKB:Q01432" }, { "pages": [ "gene/references" ], "id": "RGD:732010" }, { "pages": [ "gene" ], "id": "HGNC:470" }, { "id": "RGD:732010" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMPH", "geneSynopsis": "This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010]", "soTermId": "SO:0001217", "name": "amphiphysin", "basicGeneticEntity": { "synonyms": [ "AMPH1", "Stiff-Man syndrome with breast cancer 128kDa autoantigen", "amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin I" ], "secondaryIds": [ "RGD:733884" ], "genomeLocations": [ { "strand": "-", "endPosition": 38631507, "chromosome": "7", "assembly": "GRCh38", "startPosition": 38383700 } ], "primaryId": "HGNC:471", "crossReferences": [ { "id": "ENSEMBL:ENSG00000078053" }, { "id": "NCBI_Gene:273" }, { "id": "PANTHER:PTHR46514" }, { "id": "UniProtKB:P49418" }, { "pages": [ "gene/references" ], "id": "RGD:733884" }, { "pages": [ "gene" ], "id": "HGNC:471" }, { "id": "RGD:733884" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMT", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "aminomethyltransferase", "basicGeneticEntity": { "synonyms": [ "GCE", "GCE2", "GCST", "GCVT", "NKH", "aminomethyltransferase (glycine cleavage system protein t)", "aminomethyltransferase, mitochondrial", "glycine cleavage system T protein", "glycine cleavage system protein T", "nonketotic hyperglycinemia" ], "secondaryIds": [ "RGD:1343884" ], "genomeLocations": [ { "strand": "-", "endPosition": 49422685, "chromosome": "3", "assembly": "GRCh38", "startPosition": 49416778 } ], "primaryId": "HGNC:473", "crossReferences": [ { "id": "ENSEMBL:ENSG00000145020" }, { "id": "NCBI_Gene:275" }, { "id": "PANTHER:PTHR43757" }, { "id": "UniProtKB:P48728" }, { "pages": [ "gene/references" ], "id": "RGD:1343884" }, { "pages": [ "gene" ], "id": "HGNC:473" }, { "id": "RGD:1343884" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMTN", "geneSynopsis": "The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enamel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "amelotin", "basicGeneticEntity": { "synonyms": [ "AI3B", "MGC148132", "MGC148133", "RSTI689", "UNQ689" ], "secondaryIds": [ "RGD:1604908" ], "genomeLocations": [ { "strand": "+", "endPosition": 70532743, "chromosome": "4", "assembly": "GRCh38", "startPosition": 70518569 } ], "primaryId": "HGNC:33188", "crossReferences": [ { "id": "ENSEMBL:ENSG00000187689" }, { "id": "NCBI_Gene:401138" }, { "id": "PANTHER:PTHR36858" }, { "id": "UniProtKB:Q6UX39" }, { "pages": [ "gene/references" ], "id": "RGD:1604908" }, { "pages": [ "gene" ], "id": "HGNC:33188" }, { "id": "RGD:1604908" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMY1A", "geneSynopsis": "Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "amylase alpha 1A", "basicGeneticEntity": { "synonyms": [ "1,4-alpha-D-glucan glucanohydrolase 1", "AMY1", "AMY1B", "AMY1C", "alpha-amylase 1", "alpha-amylase 1A", "amylase alpha 1A (salivary)", "amylase, alpha 1A (salivary)", "amylase, alpha 1a, salivary", "amylase, salivary, alpha-1A", "glycogenase", "salivary alpha-amylase", "salivary amylase alpha 1A" ], "secondaryIds": [ "RGD:1353407" ], "genomeLocations": [ { "strand": "+", "endPosition": 103664629, "chromosome": "1", "assembly": "GRCh38", "startPosition": 103650592 } ], "primaryId": "HGNC:474", "crossReferences": [ { "id": "ENSEMBL:ENSG00000237763" }, { "id": "ENSEMBL:ENSG00000187733" }, { "id": "ENSEMBL:ENSG00000174876" }, { "id": "NCBI_Gene:276" }, { "id": "PANTHER:PTHR43447" }, { "id": "UniProtKB:P0DTE8" }, { "id": "UniProtKB:P0DTE7" }, { "id": "UniProtKB:P0DUB6" }, { "pages": [ "gene/references" ], "id": "RGD:1353407" }, { "pages": [ "gene" ], "id": "HGNC:474" }, { "id": "RGD:1353407" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMY1B", "geneSynopsis": "Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "amylase alpha 1B", "basicGeneticEntity": { "synonyms": [ "1,4-alpha-D-glucan glucanohydrolase 1", "AMY1", "AMY1A", "AMY1C", "MGC177995", "alpha-amylase 1", "alpha-amylase 1A", "alpha-amylase 1B", "amylase alpha 1B (salivary)", "amylase, alpha 1B (salivary)", "amylase, alpha 1b, salivary", "amylase, salivary, alpha-1B", "glycogenase", "salivary alpha-amylase", "salivary amylase alpha 1B" ], "secondaryIds": [ "RGD:1348537" ], "genomeLocations": [ { "strand": "-", "endPosition": 103701064, "chromosome": "1", "assembly": "GRCh38", "startPosition": 103687415 } ], "primaryId": "HGNC:475", "crossReferences": [ { "id": "ENSEMBL:ENSG00000174876" }, { "id": "ENSEMBL:ENSG00000187733" }, { "id": "ENSEMBL:ENSG00000237763" }, { "id": "NCBI_Gene:277" }, { "id": "PANTHER:PTHR43447" }, { "id": "UniProtKB:P0DTE8" }, { "id": "UniProtKB:P0DTE7" }, { "id": "UniProtKB:P0DUB6" }, { "pages": [ "gene/references" ], "id": "RGD:1348537" }, { "pages": [ "gene" ], "id": "HGNC:475" }, { "id": "RGD:1348537" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMY1C", "geneSynopsis": "Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "amylase alpha 1C", "basicGeneticEntity": { "synonyms": [ "1,4-alpha-D-glucan glucanohydrolase 1", "AMY1", "AMY1A", "AMY1B", "alpha-amylase 1", "alpha-amylase 1A", "alpha-amylase 1C", "amylase alpha 1C (salivary)", "amylase, alpha 1C (salivary)", "amylase, alpha 1c, salivary", "amylase, salivary, alpha-1C", "glycogenase", "salivary alpha-amylase", "salivary amylase alpha 1C" ], "secondaryIds": [ "RGD:1345853" ], "genomeLocations": [ { "strand": "+", "endPosition": 103758726, "chromosome": "1", "assembly": "GRCh38", "startPosition": 103745126 } ], "primaryId": "HGNC:476", "crossReferences": [ { "id": "ENSEMBL:ENSG00000187733" }, { "id": "ENSEMBL:ENSG00000237763" }, { "id": "ENSEMBL:ENSG00000174876" }, { "id": "NCBI_Gene:278" }, { "id": "PANTHER:PTHR43447" }, { "id": "UniProtKB:P0DTE7" }, { "id": "UniProtKB:P0DTE8" }, { "id": "UniProtKB:P0DUB6" }, { "pages": [ "gene/references" ], "id": "RGD:1345853" }, { "pages": [ "gene" ], "id": "HGNC:476" }, { "id": "RGD:1345853" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMY2A", "geneSynopsis": "This gene encodes a member of the alpha-amylase family of proteins. Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, catalyzing the first step in digestion of dietary starch and glycogen. This gene and several family members are present in a gene cluster on chromosome 1. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jan 2015]", "soTermId": "SO:0001217", "name": "amylase alpha 2A", "basicGeneticEntity": { "synonyms": [ "1,4-alpha-D-glucan glucanohydrolase", "AMY2", "AMY2B", "PA", "alpha-amylase", "amylase 1", "amylase alpha 2A (pancreatic)", "amylase, alpha 2A (pancreatic)", "amylase, alpha 2A, pancreatic", "amylase, pancreatic, alpha-2A", "found in the pancreas", "glycogenase", "pancreatic alpha-amylase", "pancreatic amylase 2A", "pancreatic amylase alpha 2A" ], "secondaryIds": [ "RGD:732589" ], "genomeLocations": [ { "strand": "+", "endPosition": 103625780, "chromosome": "1", "assembly": "GRCh38", "startPosition": 103616651 } ], "primaryId": "HGNC:477", "crossReferences": [ { "id": "ENSEMBL:ENSG00000243480" }, { "id": "NCBI_Gene:279" }, { "id": "PANTHER:PTHR43447" }, { "id": "UniProtKB:P04746" }, { "pages": [ "gene/references" ], "id": "RGD:732589" }, { "pages": [ "gene" ], "id": "HGNC:477" }, { "id": "RGD:732589" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMY2B", "geneSynopsis": "Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jun 2013]", "soTermId": "SO:0001217", "name": "amylase alpha 2B", "basicGeneticEntity": { "synonyms": [ "1,4-alpha-D-glucan glucanohydrolase 2B", "AMY2", "AMY3", "HXA", "alpha-amylase 2B", "alpha-amylase carcinoid", "amylase alpha 2B (pancreatic)", "amylase, alpha 2B (pancreatic)", "amylase, alpha 2b, pancreatic", "carcinoid alpha-amylase", "glycogenase" ], "secondaryIds": [ "RGD:1319648" ], "genomeLocations": [ { "strand": "+", "endPosition": 103579534, "chromosome": "1", "assembly": "GRCh38", "startPosition": 103553815 } ], "primaryId": "HGNC:478", "crossReferences": [ { "id": "ENSEMBL:ENSG00000240038" }, { "id": "NCBI_Gene:280" }, { "id": "PANTHER:PTHR43447" }, { "id": "UniProtKB:P19961" }, { "pages": [ "gene/references" ], "id": "RGD:1319648" }, { "pages": [ "gene" ], "id": "HGNC:478" }, { "id": "RGD:1319648" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMYP1", "soTermId": "SO:0000336", "name": "amylase alpha pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AMY2P", "amylase, alpha pseudogene 1" ], "secondaryIds": [ "RGD:1348760" ], "genomeLocations": [ { "strand": "+", "endPosition": 103719905, "chromosome": "1", "assembly": "GRCh38", "startPosition": 103713720 } ], "primaryId": "HGNC:479", "crossReferences": [ { "id": "ENSEMBL:ENSG00000227408" }, { "id": "NCBI_Gene:281" }, { "pages": [ "gene/references" ], "id": "RGD:1348760" }, { "pages": [ "gene" ], "id": "HGNC:479" }, { "id": "RGD:1348760" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMZ1", "geneSynopsis": "Predicted to enable metal ion binding activity and metallopeptidase activity. Predicted to be involved in proteolysis. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "archaelysin family metallopeptidase 1", "basicGeneticEntity": { "synonyms": [ "KIAA1950", "archaemetzincin-1", "archeobacterial metalloproteinase-like protein 1", "metalloproteinase-like protein" ], "secondaryIds": [ "RGD:1605859" ], "genomeLocations": [ { "strand": "+", "endPosition": 2775500, "chromosome": "7", "assembly": "GRCh38", "startPosition": 2679276 } ], "primaryId": "HGNC:22231", "crossReferences": [ { "id": "ENSEMBL:ENSG00000174945" }, { "id": "NCBI_Gene:155185" }, { "id": "PANTHER:PTHR32205" }, { "id": "UniProtKB:Q400G9" }, { "pages": [ "gene/references" ], "id": "RGD:1605859" }, { "pages": [ "gene" ], "id": "HGNC:22231" }, { "id": "RGD:1605859" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMZ2", "geneSynopsis": "The protein encoded by this gene is a zinc metalloprotease that displays some activity against angiotensin-3. The encoded protein is inhibited by the aminopeptidase inhibitor amastatin, as well as by the general inhibitors o-phenanthroline and batimastat. Defects in this gene may be associated with lung tumorigenesis. [provided by RefSeq, Oct 2016]", "soTermId": "SO:0001217", "name": "archaelysin family metallopeptidase 2", "basicGeneticEntity": { "synonyms": [ "archaemetzincin-2", "archaemetzincins-2", "archeobacterial metalloproteinase-like protein 2" ], "secondaryIds": [ "RGD:1605392" ], "genomeLocations": [ { "strand": "+", "endPosition": 68257712, "chromosome": "17", "assembly": "GRCh38", "startPosition": 68205481 } ], "primaryId": "HGNC:28041", "crossReferences": [ { "id": "ENSEMBL:ENSG00000196704" }, { "id": "NCBI_Gene:51321" }, { "id": "PANTHER:PTHR32205" }, { "id": "UniProtKB:Q86W34" }, { "pages": [ "gene/references" ], "id": "RGD:1605392" }, { "pages": [ "gene" ], "id": "HGNC:28041" }, { "id": "RGD:1605392" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMZ2P1", "geneSynopsis": "ASSOCIATED WITH Colorectal Neoplasms; INTERACTS WITH (+)-catechin; 2,3,7,8-tetrachlorodibenzodioxine; 2-hydroxypropanoic acid", "soTermId": "SO:0000336", "name": "AMZ2 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "DKFZp686D22101", "FLJ32065", "MGC90301", "archaelysin family metallopeptidase 2 pseudogene 1" ], "secondaryIds": [ "RGD:1604205" ], "genomeLocations": [ { "strand": "-", "endPosition": 64975683, "chromosome": "17", "assembly": "GRCh38", "startPosition": 64966425 } ], "primaryId": "HGNC:26491", "crossReferences": [ { "id": "ENSEMBL:ENSG00000291140" }, { "id": "ENSEMBL:ENSG00000214174" }, { "id": "NCBI_Gene:201283" }, { "pages": [ "gene/references" ], "id": "RGD:1604205" }, { "pages": [ "gene" ], "id": "HGNC:26491" }, { "id": "RGD:1604205" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMZ2P2", "soTermId": "SO:0000336", "name": "AMZ2 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "archaelysin family metallopeptidase 2 pseudogene 2" ], "secondaryIds": [ "RGD:3003936" ], "genomeLocations": [ { "strand": "-", "endPosition": 158726803, "chromosome": "6", "assembly": "GRCh38", "startPosition": 158725690 } ], "primaryId": "HGNC:38072", "crossReferences": [ { "id": "ENSEMBL:ENSG00000219249" }, { "id": "NCBI_Gene:100421018" }, { "pages": [ "gene/references" ], "id": "RGD:3003936" }, { "pages": [ "gene" ], "id": "HGNC:38072" }, { "id": "RGD:3003936" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AMZ2P3", "soTermId": "SO:0000336", "name": "AMZ2 pseudogene 3", "basicGeneticEntity": { "secondaryIds": [ "RGD:27374709" ], "genomeLocations": [ { "strand": "-", "endPosition": 27218974, "chromosome": "X", "assembly": "GRCh38", "startPosition": 27218134 } ], "primaryId": "HGNC:54911", "crossReferences": [ { "id": "NCBI_Gene:100128929" }, { "pages": [ "gene/references" ], "id": "RGD:27374709" }, { "pages": [ "gene" ], "id": "HGNC:54911" }, { "id": "RGD:27374709" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANAPC1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "anaphase promoting complex subunit 1", "basicGeneticEntity": { "synonyms": [ "APC1", "MCPR", "TSG24", "anaphase-promoting complex 1 (meiotic checkpoint regulator)", "anaphase-promoting complex subunit 1", "cyclosome subunit 1", "mitotic checkpoint regulator", "testis-specific gene 24 protein" ], "secondaryIds": [ "RGD:1353292" ], "genomeLocations": [ { "strand": "-", "endPosition": 111884690, "chromosome": "2", "assembly": "GRCh38", "startPosition": 111611639 } ], "primaryId": "HGNC:19988", "crossReferences": [ { "id": "ENSEMBL:ENSG00000153107" }, { "id": "NCBI_Gene:64682" }, { "id": "PANTHER:PTHR12827" }, { "id": "UniProtKB:Q9H1A4" }, { "pages": [ "gene/references" ], "id": "RGD:1353292" }, { "pages": [ "gene" ], "id": "HGNC:19988" }, { "id": "RGD:1353292" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANAPC10", "geneSynopsis": "ANAPC10 is a core subunit of the anaphase-promoting complex (APC), or cyclosome, a ubiquitin protein ligase that is essential for progression through the cell cycle. APC initiates sister chromatid separation by ubiquitinating the anaphase inhibitor securin (PTTG1; MIM 604147) and triggers exit from mitosis by ubiquitinating cyclin B (CCNB1; MIM 123836), the activating subunit of cyclin-dependent kinase-1 (CDK1; MIM 116940) (summary by Wendt et al., 2001 [PubMed 11524682]).[supplied by OMIM, Feb 2011]", "soTermId": "SO:0001217", "name": "anaphase promoting complex subunit 10", "basicGeneticEntity": { "synonyms": [ "APC10", "DKFZp564L0562", "DOC1", "anaphase-promoting complex subunit 10", "cyclosome subunit 10" ], "secondaryIds": [ "RGD:1318993" ], "genomeLocations": [ { "strand": "-", "endPosition": 145098823, "chromosome": "4", "assembly": "GRCh38", "startPosition": 144831908 } ], "primaryId": "HGNC:24077", "crossReferences": [ { "id": "ENSEMBL:ENSG00000164162" }, { "id": "NCBI_Gene:10393" }, { "id": "PANTHER:PTHR12936" }, { "id": "UniProtKB:Q9UM13" }, { "pages": [ "gene/references" ], "id": "RGD:1318993" }, { "pages": [ "gene" ], "id": "HGNC:24077" }, { "id": "RGD:1318993" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANAPC10P1", "geneSynopsis": "INTERACTS WITH copper atom; copper(0); resveratrol", "soTermId": "SO:0000336", "name": "anaphase promoting complex subunit 10 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ANAPC10P" ], "secondaryIds": [ "RGD:2293158" ], "genomeLocations": [ { "strand": "+", "endPosition": 52254383, "chromosome": "1", "assembly": "GRCh38", "startPosition": 52253567 } ], "primaryId": "HGNC:33976", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213735" }, { "id": "NCBI_Gene:729198" }, { "pages": [ "gene/references" ], "id": "RGD:2293158" }, { "pages": [ "gene" ], "id": "HGNC:33976" }, { "id": "RGD:2293158" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANAPC11", "geneSynopsis": "Enables cullin family protein binding activity and ubiquitin-ubiquitin ligase activity. Contributes to ubiquitin-protein transferase activity. Involved in anaphase-promoting complex-dependent catabolic process; positive regulation of mitotic metaphase/anaphase transition; and protein polyubiquitination. Located in nucleolus and nucleoplasm. Part of anaphase-promoting complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "anaphase promoting complex subunit 11", "basicGeneticEntity": { "synonyms": [ "APC11", "APC11 anaphase promoting complex subunit 11 homolog", "Apc11p", "HSPC214", "MGC882", "anaphase promoting complex subunit 11 (yeast APC11 homolog)", "anaphase-promoting complex subunit 11", "cyclosome subunit 11", "hepatocellular carcinoma-associated RING finger protein" ], "secondaryIds": [ "RGD:1343647" ], "genomeLocations": [ { "strand": "+", "endPosition": 81900991, "chromosome": "17", "assembly": "GRCh38", "startPosition": 81890669 } ], "primaryId": "HGNC:14452", "crossReferences": [ { "id": "ENSEMBL:ENSG00000141552" }, { "id": "NCBI_Gene:51529" }, { "id": "PANTHER:PTHR11210" }, { "id": "UniProtKB:Q9NYG5" }, { "pages": [ "gene/references" ], "id": "RGD:1343647" }, { "pages": [ "gene" ], "id": "HGNC:14452" }, { "id": "RGD:1343647" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANAPC13", "geneSynopsis": "This gene encodes a component of the anaphase promoting complex, a large ubiquitin-protein ligase that controls cell cycle progression by regulating the degradation of cell cycle regulators such as B-type cyclins. The encoded protein is evolutionarily conserved and is required for the integrity and ubiquitin ligase activity of the anaphase promoting complex. Pseudogenes and splice variants have been found for this gene; however, the biological validity of some of the splice variants has not been determined. [provided by RefSeq, Nov 2008]", "soTermId": "SO:0001217", "name": "anaphase promoting complex subunit 13", "basicGeneticEntity": { "synonyms": [ "APC13", "DKFZp566D193", "SWM1", "anaphase-promoting complex subunit 13", "cyclosome subunit 13", "cylosome subunit 13", "homolog of yeast Swm1" ], "secondaryIds": [ "RGD:1346286" ], "genomeLocations": [ { "strand": "-", "endPosition": 134486716, "chromosome": "3", "assembly": "GRCh38", "startPosition": 134477704 } ], "primaryId": "HGNC:24540", "crossReferences": [ { "id": "ENSEMBL:ENSG00000129055" }, { "id": "NCBI_Gene:25847" }, { "id": "PANTHER:PTHR28672" }, { "id": "UniProtKB:Q9BS18" }, { "pages": [ "gene/references" ], "id": "RGD:1346286" }, { "pages": [ "gene" ], "id": "HGNC:24540" }, { "id": "RGD:1346286" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANAPC13P1", "soTermId": "SO:0000336", "name": "ANAPC13 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "LOC100192388", "anaphase promoting complex subunit 13 pseudogene" ], "secondaryIds": [ "RGD:38668053" ], "genomeLocations": [ { "strand": "+", "endPosition": 11839978, "chromosome": "20", "assembly": "GRCh38", "startPosition": 11838321 } ], "primaryId": "HGNC:56948", "crossReferences": [ { "id": "NCBI_Gene:100192388" }, { "pages": [ "gene/references" ], "id": "RGD:38668053" }, { "pages": [ "gene" ], "id": "HGNC:56948" }, { "id": "RGD:38668053" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANAPC15", "geneSynopsis": "Involved in anaphase-promoting complex-dependent catabolic process; protein polyubiquitination; and regulation of mitotic cell cycle spindle assembly checkpoint. Part of anaphase-promoting complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "anaphase promoting complex subunit 15", "basicGeneticEntity": { "synonyms": [ "APC15", "C11orf51", "DKFZp564M082", "HSPC020", "anaphase-promoting complex subunit 15", "hypothetical protein LOC25906", "uncharacterized protein C11orf51" ], "secondaryIds": [ "RGD:1601769" ], "genomeLocations": [ { "strand": "-", "endPosition": 72113688, "chromosome": "11", "assembly": "GRCh38", "startPosition": 72106372 } ], "primaryId": "HGNC:24531", "crossReferences": [ { "id": "ENSEMBL:ENSG00000110200" }, { "id": "NCBI_Gene:25906" }, { "id": "PANTHER:PTHR22526" }, { "id": "UniProtKB:P60006" }, { "pages": [ "gene/references" ], "id": "RGD:1601769" }, { "pages": [ "gene" ], "id": "HGNC:24531" }, { "id": "RGD:1601769" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANAPC15P1", "soTermId": "SO:0000336", "name": "ANAPC15 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:25671565" ], "genomeLocations": [ { "strand": "-", "endPosition": 8857165, "chromosome": "X", "assembly": "GRCh38", "startPosition": 8856367 } ], "primaryId": "HGNC:54888", "crossReferences": [ { "id": "NCBI_Gene:100128808" }, { "pages": [ "gene/references" ], "id": "RGD:25671565" }, { "pages": [ "gene" ], "id": "HGNC:54888" }, { "id": "RGD:25671565" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANAPC15P2", "soTermId": "SO:0000336", "name": "ANAPC15 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "AC069218.2", "chromosome 11 open reading frame 51 (C11orf51) pseudogene" ], "secondaryIds": [ "RGD:27095966" ], "genomeLocations": [ { "strand": "-", "endPosition": 174303287, "chromosome": "3", "assembly": "GRCh38", "startPosition": 174302937 } ], "primaryId": "HGNC:54889", "crossReferences": [ { "id": "ENSEMBL:ENSG00000232601" }, { "id": "NCBI_Gene:117751731" }, { "pages": [ "gene/references" ], "id": "RGD:27095966" }, { "pages": [ "gene" ], "id": "HGNC:54889" }, { "id": "RGD:27095966" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANAPC16", "geneSynopsis": "Involved in anaphase-promoting complex-dependent catabolic process and protein polyubiquitination. Located in cytosol and kinetochore. Part of anaphase-promoting complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "anaphase promoting complex subunit 16", "basicGeneticEntity": { "synonyms": [ "APC16", "C10orf104", "CENP-27", "FLJ33728", "MSAG", "anaphase-promoting complex subunit 16", "bA570G20.3", "centromere protein 27", "cyclosome subunit 16", "metabolic syndrome-associated protein" ], "secondaryIds": [ "RGD:1345646" ], "genomeLocations": [ { "strand": "+", "endPosition": 72235860, "chromosome": "10", "assembly": "GRCh38", "startPosition": 72215863 } ], "primaryId": "HGNC:26976", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166295" }, { "id": "NCBI_Gene:119504" }, { "id": "PANTHER:PTHR31564" }, { "id": "UniProtKB:Q96DE5" }, { "pages": [ "gene/references" ], "id": "RGD:1345646" }, { "pages": [ "gene" ], "id": "HGNC:26976" }, { "id": "RGD:1345646" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANAPC1P1", "geneSynopsis": "INTERACTS WITH Aflatoxin B2 alpha; benzo[a]pyrene", "soTermId": "SO:0000336", "name": "ANAPC1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "anaphase promoting complex subunit 1 pseudogene 1" ], "secondaryIds": [ "RGD:6767436" ], "genomeLocations": [ { "strand": "+", "endPosition": 86912978, "chromosome": "2", "assembly": "GRCh38", "startPosition": 86861787 } ], "primaryId": "HGNC:44150", "crossReferences": [ { "id": "ENSEMBL:ENSG00000233673" }, { "id": "NCBI_Gene:100286979" }, { "pages": [ "gene/references" ], "id": "RGD:6767436" }, { "pages": [ "gene" ], "id": "HGNC:44150" }, { "id": "RGD:6767436" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANAPC1P2", "geneSynopsis": "INTERACTS WITH acrylamide; benzo[a]pyrene", "soTermId": "SO:0000336", "name": "ANAPC1 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "LOC285074", "anaphase promoting complex subunit 1 pseudogene" ], "secondaryIds": [ "RGD:1606111" ], "genomeLocations": [ { "strand": "-", "endPosition": 87077665, "chromosome": "2", "assembly": "GRCh38", "startPosition": 87030673 } ], "primaryId": "HGNC:54708", "crossReferences": [ { "id": "ENSEMBL:ENSG00000285793" }, { "id": "NCBI_Gene:285074" }, { "pages": [ "gene/references" ], "id": "RGD:1606111" }, { "pages": [ "gene" ], "id": "HGNC:54708" }, { "id": "RGD:1606111" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANAPC1P3", "soTermId": "SO:0000336", "name": "ANAPC1 pseudogene 3", "basicGeneticEntity": { "synonyms": [ "AC092651.1", "anaphase promoting complex subunit 1 (ANAPC1) pseudogene" ], "secondaryIds": [ "RGD:15040783" ], "genomeLocations": [ { "strand": "-", "endPosition": 87120981, "chromosome": "2", "assembly": "GRCh38", "startPosition": 87118534 } ], "primaryId": "HGNC:54709", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230395" }, { "id": "NCBI_Gene:100420889" }, { "pages": [ "gene/references" ], "id": "RGD:15040783" }, { "pages": [ "gene" ], "id": "HGNC:54709" }, { "id": "RGD:15040783" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANAPC1P4", "geneSynopsis": "INTERACTS WITH acrylamide", "soTermId": "SO:0000336", "name": "ANAPC1 pseudogene 4", "basicGeneticEntity": { "secondaryIds": [ "RGD:15041668" ], "genomeLocations": [ { "strand": "+", "endPosition": 87739249, "chromosome": "2", "assembly": "GRCh38", "startPosition": 87700983 } ], "primaryId": "HGNC:54710", "crossReferences": [ { "id": "ENSEMBL:ENSG00000234231" }, { "id": "NCBI_Gene:730268" }, { "pages": [ "gene/references" ], "id": "RGD:15041668" }, { "pages": [ "gene" ], "id": "HGNC:54710" }, { "id": "RGD:15041668" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANAPC1P5", "soTermId": "SO:0000336", "name": "ANAPC1 pseudogene 5", "basicGeneticEntity": { "synonyms": [ "AC108479.2", "anaphase promoting complex subunit 1 (ANAPC1) pseudogene" ], "secondaryIds": [ "RGD:15042259" ], "genomeLocations": [ { "strand": "-", "endPosition": 87992859, "chromosome": "2", "assembly": "GRCh38", "startPosition": 87980714 } ], "primaryId": "HGNC:54711", "crossReferences": [ { "id": "ENSEMBL:ENSG00000275597" }, { "id": "NCBI_Gene:100420890" }, { "pages": [ "gene/references" ], "id": "RGD:15042259" }, { "pages": [ "gene" ], "id": "HGNC:54711" }, { "id": "RGD:15042259" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANAPC1P6", "soTermId": "SO:0000336", "name": "ANAPC1 pseudogene 6", "basicGeneticEntity": { "synonyms": [ "AC114755.5", "pseudogene similar to part of anaphase promoting complex subunit 1 ANAPC1" ], "secondaryIds": [ "RGD:15040975" ], "genomeLocations": [ { "strand": "+", "endPosition": 106378247, "chromosome": "2", "assembly": "GRCh38", "startPosition": 106369724 } ], "primaryId": "HGNC:54712", "crossReferences": [ { "id": "ENSEMBL:ENSG00000235486" }, { "id": "NCBI_Gene:402096" }, { "pages": [ "gene/references" ], "id": "RGD:15040975" }, { "pages": [ "gene" ], "id": "HGNC:54712" }, { "id": "RGD:15040975" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANAPC2", "geneSynopsis": "A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The product of this gene is a component of the complex and shares sequence similarity with a recently identified family of proteins called cullins, which may also be involved in ubiquitin-mediated degradation. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "anaphase promoting complex subunit 2", "basicGeneticEntity": { "synonyms": [ "APC2", "RP11-350O14.5", "anaphase-promoting complex subunit 2", "cyclosome subunit 2" ], "secondaryIds": [ "RGD:1313636" ], "genomeLocations": [ { "strand": "-", "endPosition": 137189028, "chromosome": "9", "assembly": "GRCh38", "startPosition": 137174784 } ], "primaryId": "HGNC:19989", "crossReferences": [ { "id": "ENSEMBL:ENSG00000176248" }, { "id": "NCBI_Gene:29882" }, { "id": "PANTHER:PTHR45957" }, { "id": "UniProtKB:Q9UJX6" }, { "pages": [ "gene/references" ], "id": "RGD:1313636" }, { "pages": [ "gene" ], "id": "HGNC:19989" }, { "id": "RGD:1313636" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANAPC4", "geneSynopsis": "A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]", "soTermId": "SO:0001217", "name": "anaphase promoting complex subunit 4", "basicGeneticEntity": { "synonyms": [ "APC4", "anaphase-promoting complex subunit 4", "cyclosome subunit 4" ], "secondaryIds": [ "RGD:1315264" ], "genomeLocations": [ { "strand": "+", "endPosition": 25420310, "chromosome": "4", "assembly": "GRCh38", "startPosition": 25377210 } ], "primaryId": "HGNC:19990", "crossReferences": [ { "id": "ENSEMBL:ENSG00000053900" }, { "id": "NCBI_Gene:29945" }, { "id": "PANTHER:PTHR13260" }, { "id": "UniProtKB:Q9UJX5" }, { "pages": [ "gene/references" ], "id": "RGD:1315264" }, { "pages": [ "gene" ], "id": "HGNC:19990" }, { "id": "RGD:1315264" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANAPC4-AS1", "soTermId": "SO:0001263", "name": "ANAPC4 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:626469787" ], "primaryId": "HGNC:58748", "crossReferences": [ { "id": "NCBI_Gene:143433681" }, { "pages": [ "gene/references" ], "id": "RGD:626469787" }, { "pages": [ "gene" ], "id": "HGNC:58748" }, { "id": "RGD:626469787" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANAPC5", "geneSynopsis": "This gene encodes a tetratricopeptide repeat-containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for the proper ubiquitination function of APC/C and for the interaction of APC/C with transcription coactivators. It also interacts with polyA binding protein and represses internal ribosome entry site-mediated translation. Multiple transcript variants encoding different isoforms have been found for this gene. These differences cause translation initiation at a downstream AUG and result in a shorter protein (isoform b), compared to isoform a. [provided by RefSeq, Nov 2008]", "soTermId": "SO:0001217", "name": "anaphase promoting complex subunit 5", "basicGeneticEntity": { "synonyms": [ "APC5", "anaphase-promoting complex subunit 5", "cyclosome subunit 5" ], "secondaryIds": [ "RGD:1314558" ], "genomeLocations": [ { "strand": "-", "endPosition": 121399896, "chromosome": "12", "assembly": "GRCh38", "startPosition": 121308245 } ], "primaryId": "HGNC:15713", "crossReferences": [ { "id": "ENSEMBL:ENSG00000089053" }, { "id": "NCBI_Gene:51433" }, { "id": "PANTHER:PTHR12830" }, { "id": "UniProtKB:Q9UJX4" }, { "pages": [ "gene/references" ], "id": "RGD:1314558" }, { "pages": [ "gene" ], "id": "HGNC:15713" }, { "id": "RGD:1314558" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANAPC7", "geneSynopsis": "This gene encodes a tetratricopeptide repeat containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for proper protein ubiquitination function of APC/C and for the interaction of APC/C with certain transcription coactivators. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]", "soTermId": "SO:0001217", "name": "anaphase promoting complex subunit 7", "basicGeneticEntity": { "synonyms": [ "APC7", "FERBON", "anaphase-promoting complex subunit 7", "cyclosome subunit 7" ], "secondaryIds": [ "RGD:1344930" ], "genomeLocations": [ { "strand": "-", "endPosition": 110403730, "chromosome": "12", "assembly": "GRCh38", "startPosition": 110372900 } ], "primaryId": "HGNC:17380", "crossReferences": [ { "id": "ENSEMBL:ENSG00000196510" }, { "id": "NCBI_Gene:51434" }, { "id": "PANTHER:PTHR12558" }, { "id": "UniProtKB:Q9UJX3" }, { "pages": [ "gene/references" ], "id": "RGD:1344930" }, { "pages": [ "gene" ], "id": "HGNC:17380" }, { "id": "RGD:1344930" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANG", "geneSynopsis": "The protein encoded by this gene is a member of the RNase A superfamily though it has relatively weak ribonucleolytic activity. This protein is a potent mediator of new blood vessel formation and thus, in addition to the name RNase5, is commonly called angiogenin. This protein induces angiogenesis after binding to actin on the surface of endothelial cells. This protein also accumulates at the nucleolus where it stimulates ribosomal transcription. Under stress conditions this protein translocates to the cytosol where it hydrolyzes cellular tRNAs and influences protein synthesis. A signal peptide is cleaved from the precursor protein to produce a mature protein which contains a nuclear localization signal, a cell binding motif, and a catalytic domain. This protein has been shown to be both neurotrophic and neuroprotective and the mature protein has antimicrobial activity against some bacteria and fungi, including S. pneumoniae and C. albicans. Due to its effect on rRNA production and angiogenesis this gene plays important roles in cell growth and tumor progression. Mutations in this gene are associated with progression of amyotrophic lateral sclerosis (ALS). This gene and the neighboring RNase4 gene share promoters and 5' exons though each gene then splices to a distinct 3' exon containing the complete coding region of each gene. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2020]", "soTermId": "SO:0001217", "name": "angiogenin", "basicGeneticEntity": { "synonyms": [ "ALS9", "HEL168", "Homo sapiens epididymis luminal protein 168", "MGC22466", "MGC71966", "RAA1", "RNASE4", "RNASE5", "RNase 5", "angiogenin, ribonuclease, RNase A family, 5", "epididymis luminal protein 168", "ribonuclease 5", "ribonuclease A A1", "ribonuclease A family member 5" ], "secondaryIds": [ "RGD:1349500" ], "genomeLocations": [ { "strand": "+", "endPosition": 20698971, "chromosome": "14", "assembly": "GRCh38", "startPosition": 20682950 } ], "primaryId": "HGNC:483", "crossReferences": [ { "id": "ENSEMBL:ENSG00000214274" }, { "id": "NCBI_Gene:283" }, { "id": "PANTHER:PTHR11437" }, { "id": "UniProtKB:P03950" }, { "pages": [ "gene/references" ], "id": "RGD:1349500" }, { "pages": [ "gene" ], "id": "HGNC:483" }, { "id": "RGD:1349500" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANGEL1", "geneSynopsis": "Enables eukaryotic initiation factor 4E binding activity and protein domain specific binding activity. Located in several cellular components, including cis-Golgi network; endoplasmic reticulum; and perinuclear region of cytoplasm. Is active in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "angel homolog 1", "basicGeneticEntity": { "synonyms": [ "Ccr4e", "FLJ60172", "KIAA0759", "RNA 2',3'-cyclic phosphatase ANGEL1", "RP11-488C13.5", "angel homolog 1 (Drosophila)", "protein angel homolog 1" ], "secondaryIds": [ "RGD:1314740" ], "genomeLocations": [ { "strand": "-", "endPosition": 76826246, "chromosome": "14", "assembly": "GRCh38", "startPosition": 76781733 } ], "primaryId": "HGNC:19961", "crossReferences": [ { "id": "ENSEMBL:ENSG00000013523" }, { "id": "NCBI_Gene:23357" }, { "id": "PANTHER:PTHR12121" }, { "id": "UniProtKB:Q9UNK9" }, { "pages": [ "gene/references" ], "id": "RGD:1314740" }, { "pages": [ "gene" ], "id": "HGNC:19961" }, { "id": "RGD:1314740" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANGEL2", "geneSynopsis": "Enables mRNA 3'-UTR binding activity. Involved in 3'-UTR-mediated mRNA stabilization and negative regulation of mitotic cell cycle. Located in Cajal body and cytoplasm. Is active in mitochondrial matrix. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "angel homolog 2", "basicGeneticEntity": { "synonyms": [ "Ccr4d", "FLJ12793", "KIAA0759L", "RNA 2',3'-cyclic phosphatase ANGEL2", "angel homolog 2 (Drosophila)", "protein angel homolog 2" ], "secondaryIds": [ "RGD:1601837" ], "genomeLocations": [ { "strand": "-", "endPosition": 213015867, "chromosome": "1", "assembly": "GRCh38", "startPosition": 212992182 } ], "primaryId": "HGNC:30534", "crossReferences": [ { "id": "ENSEMBL:ENSG00000174606" }, { "id": "NCBI_Gene:90806" }, { "id": "PANTHER:PTHR12121" }, { "id": "UniProtKB:Q5VTE6" }, { "pages": [ "gene/references" ], "id": "RGD:1601837" }, { "pages": [ "gene" ], "id": "HGNC:30534" }, { "id": "RGD:1601837" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANGPT1", "geneSynopsis": "This gene encodes a secreted glycoprotein that belongs to the angiopoietin family. Members of this family play important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The protein encoded by this gene is a secreted glycoprotein that activates the receptor by inducing its tyrosine phosphorylation. It plays a critical role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme and inhibits endothelial permeability. The protein also contributes to blood vessel maturation and stability, and may be involved in early development of the heart. Mutations in this gene are associated with hereditary angioedema. [provided by RefSeq, Aug 2020]", "soTermId": "SO:0001217", "name": "angiopoietin 1", "basicGeneticEntity": { "synonyms": [ "AGP1", "AGPT", "AGPT-1", "ANG-1", "ANG1", "HAE5", "angiopoietin-1" ], "secondaryIds": [ "RGD:733136" ], "genomeLocations": [ { "strand": "-", "endPosition": 107498055, "chromosome": "8", "assembly": "GRCh38", "startPosition": 107249482 } ], "primaryId": "HGNC:484", "crossReferences": [ { "id": "ENSEMBL:ENSG00000154188" }, { "id": "NCBI_Gene:284" }, { "id": "PANTHER:PTHR47221" }, { "id": "UniProtKB:Q15389" }, { "pages": [ "gene/references" ], "id": "RGD:733136" }, { "pages": [ "gene" ], "id": "HGNC:484" }, { "id": "RGD:733136" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANGPT2", "geneSynopsis": "This gene belongs to the angiopoietin family of growth factors. The protein encoded by this gene is an antagonist of angiopoietin 1, and both angiopoietin 1 and angiopoietin 2 are ligands for the endothelial TEK receptor tyrosine kinase. Angiopoietin 2 is upregulated in multiple inflammatory diseases and is implicated in the direct control of inflammation-related signaling pathways. The encoded protein affects angiogenesis during embryogenesis and tumorigenesis, disrupts the vascular remodeling ability of angiopoietin 1, and may induce endothelial cell apoptosis. This gene serves a prognostic biomarker for acute respiratory distress syndrome. [provided by RefSeq, Aug 2020]", "soTermId": "SO:0001217", "name": "angiopoietin 2", "basicGeneticEntity": { "synonyms": [ "AGPT2", "ANG-2", "ANG2", "LMPHM10", "Tie2-ligand", "angiopoietin-2", "angiopoietin-2B", "angiopoietin-2a" ], "secondaryIds": [ "RGD:730844" ], "genomeLocations": [ { "strand": "-", "endPosition": 6563409, "chromosome": "8", "assembly": "GRCh38", "startPosition": 6499632 } ], "primaryId": "HGNC:485", "crossReferences": [ { "id": "ENSEMBL:ENSG00000091879" }, { "id": "NCBI_Gene:285" }, { "id": "PANTHER:PTHR47221" }, { "id": "UniProtKB:O15123" }, { "pages": [ "gene/references" ], "id": "RGD:730844" }, { "pages": [ "gene" ], "id": "HGNC:485" }, { "id": "RGD:730844" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANGPT4", "geneSynopsis": "Angiopoietins are proteins with important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The mechanism by which they contribute to angiogenesis is thought to involve regulation of endothelial cell interactions with supporting perivascular cells. The protein encoded by this gene functions as an agonist and is an angiopoietin. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "angiopoietin 4", "basicGeneticEntity": { "synonyms": [ "AGP4", "ANG-3", "ANG-4", "ANG3", "ANG4", "MGC138181", "MGC138183", "angiopoietin-3", "angiopoietin-4", "dJ824F16.2 (angiopoietin 4)" ], "secondaryIds": [ "RGD:1316792" ], "genomeLocations": [ { "strand": "-", "endPosition": 916334, "chromosome": "20", "assembly": "GRCh38", "startPosition": 869900 } ], "primaryId": "HGNC:487", "crossReferences": [ { "id": "ENSEMBL:ENSG00000101280" }, { "id": "NCBI_Gene:51378" }, { "id": "PANTHER:PTHR47221" }, { "id": "UniProtKB:Q9Y264" }, { "pages": [ "gene/references" ], "id": "RGD:1316792" }, { "pages": [ "gene" ], "id": "HGNC:487" }, { "id": "RGD:1316792" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANGPTL1", "geneSynopsis": "Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. The protein encoded by this gene is another member of the angiopoietin family that is widely expressed in adult tissues with mRNA levels highest in highly vascularized tissues. This protein was found to be a secretory protein that does not act as an endothelial cell mitogen in vitro. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "angiopoietin like 1", "basicGeneticEntity": { "synonyms": [ "ANG-3", "ANG3", "ANGPT3", "ARP1", "AngY", "KIAA0351", "UNQ162", "angioarrestin", "angiopoietin 3", "angiopoietin Y1", "angiopoietin-3", "angiopoietin-like 1", "angiopoietin-like protein 1", "angiopoietin-related protein 1", "dJ595C2.2", "dJ595C2.2 (angiopoietin Y1)" ], "secondaryIds": [ "RGD:1347249" ], "genomeLocations": [ { "strand": "-", "endPosition": 178872204, "chromosome": "1", "assembly": "GRCh38", "startPosition": 178849535 } ], "primaryId": "HGNC:489", "crossReferences": [ { "id": "ENSEMBL:ENSG00000116194" }, { "id": "NCBI_Gene:9068" }, { "id": "PANTHER:PTHR47221" }, { "id": "UniProtKB:O95841" }, { "pages": [ "gene/references" ], "id": "RGD:1347249" }, { "pages": [ "gene" ], "id": "HGNC:489" }, { "id": "RGD:1347249" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANGPTL2", "geneSynopsis": "Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. ANGPTL2 protein is a secreted glycoprotein with homology to the angiopoietins and may exert a function on endothelial cells through autocrine or paracrine action. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "angiopoietin like 2", "basicGeneticEntity": { "synonyms": [ "ARP2", "HARP", "MGC8889", "angiopoietin-like 2", "angiopoietin-like protein 2", "angiopoietin-related protein 2" ], "secondaryIds": [ "RGD:733949" ], "genomeLocations": [ { "strand": "-", "endPosition": 127122645, "chromosome": "9", "assembly": "GRCh38", "startPosition": 127087348 } ], "primaryId": "HGNC:490", "crossReferences": [ { "id": "ENSEMBL:ENSG00000136859" }, { "id": "NCBI_Gene:23452" }, { "id": "PANTHER:PTHR47221" }, { "id": "UniProtKB:Q9UKU9" }, { "pages": [ "gene/references" ], "id": "RGD:733949" }, { "pages": [ "gene" ], "id": "HGNC:490" }, { "id": "RGD:733949" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANGPTL3", "geneSynopsis": "This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which is expressed predominantly in the liver, is further processed into an N-terminal coiled-coil domain-containing chain and a C-terminal fibrinogen chain. The N-terminal chain is important for lipid metabolism, while the C-terminal chain may be involved in angiogenesis. Mutations in this gene cause familial hypobetalipoproteinemia type 2. [provided by RefSeq, Aug 2015]", "soTermId": "SO:0001217", "name": "angiopoietin like 3", "basicGeneticEntity": { "synonyms": [ "ANG-5", "ANGPT5", "ANL3", "FHBL2", "angiopoietin 5", "angiopoietin-5", "angiopoietin-like 3", "angiopoietin-like protein 3", "angiopoietin-related protein 3" ], "secondaryIds": [ "RGD:1346260" ], "genomeLocations": [ { "strand": "+", "endPosition": 62607196, "chromosome": "1", "assembly": "GRCh38", "startPosition": 62597464 } ], "primaryId": "HGNC:491", "crossReferences": [ { "id": "ENSEMBL:ENSG00000132855" }, { "id": "NCBI_Gene:27329" }, { "id": "PANTHER:PTHR19143" }, { "id": "UniProtKB:Q9Y5C1" }, { "pages": [ "gene/references" ], "id": "RGD:1346260" }, { "pages": [ "gene" ], "id": "HGNC:491" }, { "id": "RGD:1346260" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANGPTL4", "geneSynopsis": "This gene encodes a glycosylated, secreted protein containing a C-terminal fibrinogen domain. The encoded protein is induced by peroxisome proliferation activators and functions as a serum hormone that regulates glucose homeostasis, lipid metabolism, and insulin sensitivity. This protein can also act as an apoptosis survival factor for vascular endothelial cells and can prevent metastasis by inhibiting vascular growth and tumor cell invasion. The C-terminal domain may be proteolytically-cleaved from the full-length secreted protein. Decreased expression of this gene has been associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. This gene was previously referred to as ANGPTL2 but has been renamed ANGPTL4. [provided by RefSeq, Sep 2013]", "soTermId": "SO:0001217", "name": "angiopoietin like 4", "basicGeneticEntity": { "synonyms": [ "ANGPTL2", "ARP4", "FIAF", "HARP", "HFARP", "NL2", "PGAR", "PPARG angiopoietin related protein", "TGQTL", "UNQ171", "angiopoietin-like 4", "angiopoietin-like protein 4", "angiopoietin-related protein 4", "fasting-induced adipose factor", "hepatic angiopoietin-related protein", "hepatic fibrinogen/angiopoietin-related protein", "peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein", "pp1158" ], "secondaryIds": [ "RGD:1344384" ], "genomeLocations": [ { "strand": "+", "endPosition": 8374371, "chromosome": "19", "assembly": "GRCh38", "startPosition": 8363223 } ], "primaryId": "HGNC:16039", "crossReferences": [ { "id": "ENSEMBL:ENSG00000167772" }, { "id": "NCBI_Gene:51129" }, { "id": "PANTHER:PTHR47221" }, { "id": "UniProtKB:Q9BY76" }, { "pages": [ "gene/references" ], "id": "RGD:1344384" }, { "pages": [ "gene" ], "id": "HGNC:16039" }, { "id": "RGD:1344384" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANGPTL5", "geneSynopsis": "Predicted to be located in extracellular region. Predicted to be active in collagen-containing extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "angiopoietin like 5", "basicGeneticEntity": { "synonyms": [ "angiopoietin-like 5", "angiopoietin-like protein 5", "angiopoietin-related protein 5", "fibrinogen-like" ], "secondaryIds": [ "RGD:1351491" ], "genomeLocations": [ { "strand": "-", "endPosition": 101916522, "chromosome": "11", "assembly": "GRCh38", "startPosition": 101890674 } ], "primaryId": "HGNC:19705", "crossReferences": [ { "id": "ENSEMBL:ENSG00000187151" }, { "id": "NCBI_Gene:253935" }, { "id": "PANTHER:PTHR19143" }, { "id": "UniProtKB:Q86XS5" }, { "pages": [ "gene/references" ], "id": "RGD:1351491" }, { "pages": [ "gene" ], "id": "HGNC:19705" }, { "id": "RGD:1351491" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANGPTL6", "geneSynopsis": "Predicted to enable signaling receptor binding activity. Predicted to be involved in angiogenesis; blood coagulation; and cell differentiation. Located in collagen-containing extracellular matrix and extracellular exosome. Biomarker of gestational diabetes. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "angiopoietin like 6", "basicGeneticEntity": { "synonyms": [ "AGF", "ARP5", "angiopoietin-like 6", "angiopoietin-like protein 6", "angiopoietin-related growth factor", "angiopoietin-related protein 5", "angiopoietin-related protein 6" ], "secondaryIds": [ "RGD:1322443" ], "genomeLocations": [ { "strand": "-", "endPosition": 10106612, "chromosome": "19", "assembly": "GRCh38", "startPosition": 10092337 } ], "primaryId": "HGNC:23140", "crossReferences": [ { "id": "ENSEMBL:ENSG00000130812" }, { "id": "NCBI_Gene:83854" }, { "id": "PANTHER:PTHR47221" }, { "id": "UniProtKB:Q8NI99" }, { "pages": [ "gene/references" ], "id": "RGD:1322443" }, { "pages": [ "gene" ], "id": "HGNC:23140" }, { "id": "RGD:1322443" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANGPTL7", "geneSynopsis": "Enables identical protein binding activity. Involved in negative regulation of vasculature development involved in avascular cornea development in camera-type eye and regulation of extracellular matrix organization. Located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "angiopoietin like 7", "basicGeneticEntity": { "synonyms": [ "AngX", "CDT6", "RP4-647M16.2", "angiopoietin-like 7", "angiopoietin-like factor (CDT6)", "angiopoietin-like protein 7", "angiopoietin-related protein 7", "cornea-derived transcript 6 protein", "dJ647M16.1" ], "secondaryIds": [ "RGD:1350833" ], "genomeLocations": [ { "strand": "+", "endPosition": 11195981, "chromosome": "1", "assembly": "GRCh38", "startPosition": 11189355 } ], "primaryId": "HGNC:24078", "crossReferences": [ { "id": "ENSEMBL:ENSG00000171819" }, { "id": "NCBI_Gene:10218" }, { "id": "PANTHER:PTHR47221" }, { "id": "UniProtKB:O43827" }, { "pages": [ "gene/references" ], "id": "RGD:1350833" }, { "pages": [ "gene" ], "id": "HGNC:24078" }, { "id": "RGD:1350833" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANGPTL8", "geneSynopsis": "Predicted to enable hormone activity. Involved in regulation of lipid metabolic process and triglyceride homeostasis. Acts upstream of or within positive regulation of protein processing and regulation of lipoprotein metabolic process. Located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "angiopoietin like 8", "basicGeneticEntity": { "synonyms": [ "C19orf80", "PRO1185", "PVPA599", "RIFL", "TD26", "angiopoietin-like 8", "angiopoietin-like protein 8", "betatrophin", "betatrophin variant 1", "betatrophin variant 2", "hepatocellular carcinoma-associated gene TD26", "hepatocellular carcinoma-associated protein TD26", "lipasin" ], "secondaryIds": [ "RGD:1607022" ], "genomeLocations": [ { "strand": "+", "endPosition": 11241943, "chromosome": "19", "assembly": "GRCh38", "startPosition": 11237502 } ], "primaryId": "HGNC:24933", "crossReferences": [ { "id": "ENSEMBL:ENSG00000130173" }, { "id": "NCBI_Gene:55908" }, { "id": "PANTHER:PTHR21463" }, { "id": "UniProtKB:Q6UXH0" }, { "pages": [ "gene/references" ], "id": "RGD:1607022" }, { "pages": [ "gene" ], "id": "HGNC:24933" }, { "id": "RGD:1607022" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANHX", "geneSynopsis": "Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of skeletal muscle cell proliferation; regulation of transcription by RNA polymerase II; and skeletal muscle fiber development. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "anomalous homeobox", "basicGeneticEntity": { "synonyms": [ "anomalous homeobox protein", "hCG2007354", "uncharacterized protein LOC647589" ], "secondaryIds": [ "RGD:6483645" ], "genomeLocations": [ { "strand": "-", "endPosition": 133235877, "chromosome": "12", "assembly": "GRCh38", "startPosition": 133218312 } ], "primaryId": "HGNC:40024", "crossReferences": [ { "id": "ENSEMBL:ENSG00000227059" }, { "id": "NCBI_Gene:647589" }, { "id": "PANTHER:PTHR10390" }, { "id": "UniProtKB:E9PGG2" }, { "pages": [ "gene/references" ], "id": "RGD:6483645" }, { "pages": [ "gene" ], "id": "HGNC:40024" }, { "id": "RGD:6483645" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANK1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ankyrin 1", "basicGeneticEntity": { "synonyms": [ "ANK", "ANK-1", "SPH1", "SPH2", "ankyrin 1, erythrocytic", "ankyrin-1", "ankyrin-R", "erythrocyte ankyrin" ], "secondaryIds": [ "RGD:1320055" ], "genomeLocations": [ { "strand": "-", "endPosition": 41896741, "chromosome": "8", "assembly": "GRCh38", "startPosition": 41653220 } ], "primaryId": "HGNC:492", "crossReferences": [ { "id": "ENSEMBL:ENSG00000029534" }, { "id": "NCBI_Gene:286" }, { "id": "PANTHER:PTHR24123" }, { "id": "UniProtKB:P16157" }, { "pages": [ "gene/references" ], "id": "RGD:1320055" }, { "pages": [ "gene" ], "id": "HGNC:492" }, { "id": "RGD:1320055" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANK2", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ankyrin 2", "basicGeneticEntity": { "synonyms": [ "ANK-2", "CFAP87", "DKFZp686M09125", "DKFZp686P0948", "FAP87", "FLJ11832", "FLJ38277", "FLJ46169", "LQT4", "ankyrin 2, neuronal", "ankyrin B", "ankyrin, brain", "ankyrin, nonerythroid", "ankyrin-2", "ankyrin-2, nonerythrocytic", "brain ankyrin", "brank-2", "non-erythroid ankyrin" ], "secondaryIds": [ "RGD:1317291" ], "genomeLocations": [ { "strand": "+", "endPosition": 113384231, "chromosome": "4", "assembly": "GRCh38", "startPosition": 112705622 } ], "primaryId": "HGNC:493", "crossReferences": [ { "id": "ENSEMBL:ENSG00000145362" }, { "id": "NCBI_Gene:287" }, { "id": "PANTHER:PTHR24123" }, { "id": "UniProtKB:Q01484" }, { "pages": [ "gene/references" ], "id": "RGD:1317291" }, { "pages": [ "gene" ], "id": "HGNC:493" }, { "id": "RGD:1317291" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANK2-AS1", "geneSynopsis": "INTERACTS WITH cadmium dichloride", "soTermId": "SO:0001263", "name": "ANK2 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AC093879.1", "novel transcript" ], "secondaryIds": [ "RGD:14696753" ], "genomeLocations": [ { "strand": "-", "endPosition": 113071962, "chromosome": "4", "assembly": "GRCh38", "startPosition": 112973272 } ], "primaryId": "HGNC:40076", "crossReferences": [ { "id": "ENSEMBL:ENSG00000248152" }, { "id": "NCBI_Gene:105377373" }, { "pages": [ "gene/references" ], "id": "RGD:14696753" }, { "pages": [ "gene" ], "id": "HGNC:40076" }, { "id": "RGD:14696753" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANK2-AS2", "soTermId": "SO:0001263", "name": "ANK2 antisense RNA 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:629096420" ], "primaryId": "HGNC:58871", "crossReferences": [ { "id": "NCBI_Gene:144248942" }, { "pages": [ "gene/references" ], "id": "RGD:629096420" }, { "pages": [ "gene" ], "id": "HGNC:58871" }, { "id": "RGD:629096420" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANK3", "geneSynopsis": "Ankyrins are a family of proteins that are believed to 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 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]", "soTermId": "SO:0001217", "name": "ankyrin 3", "basicGeneticEntity": { "synonyms": [ "ANK-3", "ANKYRIN-G", "FLJ45464", "MRT37", "ankyrin 3, node of Ranvier (ankyrin G)", "ankyrin G119", "ankyrin-3", "ankyrin-3, node of Ranvier" ], "secondaryIds": [ "RGD:1318779" ], "genomeLocations": [ { "strand": "-", "endPosition": 60733528, "chromosome": "10", "assembly": "GRCh38", "startPosition": 60026298 } ], "primaryId": "HGNC:494", "crossReferences": [ { "id": "ENSEMBL:ENSG00000151150" }, { "id": "NCBI_Gene:288" }, { "id": "PANTHER:PTHR24123" }, { "id": "UniProtKB:Q12955" }, { "pages": [ "gene/references" ], "id": "RGD:1318779" }, { "pages": [ "gene" ], "id": "HGNC:494" }, { "id": "RGD:1318779" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANK3-DT", "soTermId": "SO:0001263", "name": "ANK3 divergent transcript", "basicGeneticEntity": { "secondaryIds": [ "RGD:13825410" ], "genomeLocations": [ { "strand": "+", "endPosition": 60741836, "chromosome": "10", "assembly": "GRCh38", "startPosition": 60733553 } ], "primaryId": "HGNC:54102", "crossReferences": [ { "id": "ENSEMBL:ENSG00000254271" }, { "id": "NCBI_Gene:105378320" }, { "pages": [ "gene/references" ], "id": "RGD:13825410" }, { "pages": [ "gene" ], "id": "HGNC:54102" }, { "id": "RGD:13825410" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKAR", "geneSynopsis": "Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin and armadillo repeat containing", "basicGeneticEntity": { "synonyms": [ "FLJ25415", "ankyrin and armadillo repeat-containing protein" ], "secondaryIds": [ "RGD:1603564" ], "genomeLocations": [ { "strand": "+", "endPosition": 189763059, "chromosome": "2", "assembly": "GRCh38", "startPosition": 189674290 } ], "primaryId": "HGNC:26350", "crossReferences": [ { "id": "ENSEMBL:ENSG00000151687" }, { "id": "NCBI_Gene:150709" }, { "id": "PANTHER:PTHR46464" }, { "id": "UniProtKB:Q7Z5J8" }, { "pages": [ "gene/references" ], "id": "RGD:1603564" }, { "pages": [ "gene" ], "id": "HGNC:26350" }, { "id": "RGD:1603564" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKDD1A", "geneSynopsis": "Predicted to be involved in signal transduction. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat and death domain containing 1A", "basicGeneticEntity": { "synonyms": [ "FLJ18078", "FLJ25870", "MGC120305", "MGC120306", "MGC120307", "ankyrin repeat and death domain-containing protein 1A" ], "secondaryIds": [ "RGD:1604469" ], "genomeLocations": [ { "strand": "+", "endPosition": 64958700, "chromosome": "15", "assembly": "GRCh38", "startPosition": 64911861 } ], "primaryId": "HGNC:28002", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166839" }, { "id": "NCBI_Gene:348094" }, { "id": "PANTHER:PTHR24198" }, { "id": "UniProtKB:Q495B1" }, { "pages": [ "gene/references" ], "id": "RGD:1604469" }, { "pages": [ "gene" ], "id": "HGNC:28002" }, { "id": "RGD:1604469" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKDD1B", "geneSynopsis": "Predicted to be involved in signal transduction. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat and death domain containing 1B", "basicGeneticEntity": { "synonyms": [ "ankyrin repeat and death domain-containing protein 1B", "ankyrin repeat and death domain-containing protein ENSP00000345065" ], "secondaryIds": [ "RGD:2301773" ], "genomeLocations": [ { "strand": "+", "endPosition": 75681773, "chromosome": "5", "assembly": "GRCh38", "startPosition": 75611182 } ], "primaryId": "HGNC:32525", "crossReferences": [ { "id": "ENSEMBL:ENSG00000189045" }, { "id": "NCBI_Gene:728780" }, { "id": "PANTHER:PTHR24125" }, { "id": "UniProtKB:A6NHY2" }, { "pages": [ "gene/references" ], "id": "RGD:2301773" }, { "pages": [ "gene" ], "id": "HGNC:32525" }, { "id": "RGD:2301773" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKEF1", "geneSynopsis": "Predicted to enable calcium ion binding activity. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat and EF-hand domain containing 1", "basicGeneticEntity": { "synonyms": [ "ANKRD5", "FLJ21669", "ankyrin repeat and EF-hand domain-containing protein 1", "ankyrin repeat domain 5", "ankyrin repeat domain-containing protein 5", "dJ839B4.6" ], "secondaryIds": [ "RGD:1312470" ], "genomeLocations": [ { "strand": "+", "endPosition": 10058303, "chromosome": "20", "assembly": "GRCh38", "startPosition": 9986126 } ], "primaryId": "HGNC:15803", "crossReferences": [ { "id": "ENSEMBL:ENSG00000132623" }, { "id": "NCBI_Gene:63926" }, { "id": "PANTHER:PTHR24127" }, { "id": "UniProtKB:Q9NU02" }, { "pages": [ "gene/references" ], "id": "RGD:1312470" }, { "pages": [ "gene" ], "id": "HGNC:15803" }, { "id": "RGD:1312470" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKFN1", "geneSynopsis": "Predicted to be involved in establishment of mitotic spindle orientation and regulation of establishment of bipolar cell polarity. Predicted to act upstream of or within behavioral fear response; equilibrioception; and locomotor rhythm. Predicted to be active in spindle. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat and fibronectin type III domain containing 1", "basicGeneticEntity": { "synonyms": [ "FLJ38335", "WAKE", "ankyrin repeat and fibronectin type-III domain-containing protein 1", "ankyrin-repeat and fibronectin type III domain containing 1" ], "secondaryIds": [ "RGD:1604222" ], "genomeLocations": [ { "strand": "+", "endPosition": 56517016, "chromosome": "17", "assembly": "GRCh38", "startPosition": 55882301 } ], "primaryId": "HGNC:26766", "crossReferences": [ { "id": "ENSEMBL:ENSG00000153930" }, { "id": "NCBI_Gene:162282" }, { "id": "PANTHER:PTHR21437" }, { "id": "UniProtKB:Q8N957" }, { "pages": [ "gene/references" ], "id": "RGD:1604222" }, { "pages": [ "gene" ], "id": "HGNC:26766" }, { "id": "RGD:1604222" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKFY1", "geneSynopsis": "This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012]", "soTermId": "SO:0001217", "name": "ankyrin repeat and FYVE domain containing 1", "basicGeneticEntity": { "synonyms": [ "ANKHZN", "BTBD23", "DKFZp686M19106", "KIAA1255", "Rabankyrin-5", "ZFYVE14", "ankyrin repeat and FYVE domain-containing protein 1", "ankyrin repeat hooked to zinc finger motif", "ankyrin repeats hooked to a zinc finger motif", "rank-5" ], "secondaryIds": [ "RGD:1320021" ], "genomeLocations": [ { "strand": "-", "endPosition": 4263995, "chromosome": "17", "assembly": "GRCh38", "startPosition": 4163821 } ], "primaryId": "HGNC:20763", "crossReferences": [ { "id": "ENSEMBL:ENSG00000185722" }, { "id": "NCBI_Gene:51479" }, { "id": "PANTHER:PTHR24123" }, { "id": "UniProtKB:Q9P2R3" }, { "pages": [ "gene/references" ], "id": "RGD:1320021" }, { "pages": [ "gene" ], "id": "HGNC:20763" }, { "id": "RGD:1320021" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKH", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ANKH inorganic pyrophosphate transport regulator", "basicGeneticEntity": { "synonyms": [ "ANK", "ATP carrier protein ANKH", "CCAL2", "CMDJ", "CPPDD", "FLJ27166", "HANK", "MANK", "SLC62A1", "ankylosis, progressive homolog", "craniometaphyseal dysplasia, Jackson type (dominant)", "mineralization regulator ANKH", "progressive ankylosis", "progressive ankylosis protein homolog", "solute carrier family 62, member 1" ], "secondaryIds": [ "RGD:734405" ], "genomeLocations": [ { "strand": "-", "endPosition": 14871877, "chromosome": "5", "assembly": "GRCh38", "startPosition": 14704800 } ], "primaryId": "HGNC:15492", "crossReferences": [ { "id": "ENSEMBL:ENSG00000154122" }, { "id": "NCBI_Gene:56172" }, { "id": "PANTHER:PTHR28384" }, { "id": "UniProtKB:Q9HCJ1" }, { "pages": [ "gene/references" ], "id": "RGD:734405" }, { "pages": [ "gene" ], "id": "HGNC:15492" }, { "id": "RGD:734405" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKH-AS1", "soTermId": "SO:0001263", "name": "ANKH antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LOC124900944", "uncharacterized LOC124900944" ], "secondaryIds": [ "RGD:151675482" ], "genomeLocations": [ { "strand": "+", "endPosition": 14740988, "chromosome": "5", "assembly": "GRCh38", "startPosition": 14723387 } ], "primaryId": "HGNC:59005", "crossReferences": [ { "id": "NCBI_Gene:124900944" }, { "pages": [ "gene/references" ], "id": "RGD:151675482" }, { "pages": [ "gene" ], "id": "HGNC:59005" }, { "id": "RGD:151675482" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKH-DT", "soTermId": "SO:0001263", "name": "ANKH divergent transcript", "basicGeneticEntity": { "secondaryIds": [ "RGD:39128288" ], "genomeLocations": [ { "strand": "+", "endPosition": 14872713, "chromosome": "5", "assembly": "GRCh38", "startPosition": 14872332 } ], "primaryId": "HGNC:55234", "crossReferences": [ { "id": "ENSEMBL:ENSG00000272057" }, { "id": "NCBI_Gene:118597842" }, { "pages": [ "gene/references" ], "id": "RGD:39128288" }, { "pages": [ "gene" ], "id": "HGNC:55234" }, { "id": "RGD:39128288" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKHD1", "geneSynopsis": "This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspases and thereby play an antiapoptotic role in cell survival. Alternative splicing results in multiple transcript variants, one of which generates a fusion transcript (MASK-BP3) with the downstream eIF4E-binding protein 3 (EIF4EBP3) gene, resulting in a protein comprised of the ANKHD1 sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Sep 2010]", "soTermId": "SO:0001217", "name": "ankyrin repeat and KH domain containing 1", "basicGeneticEntity": { "synonyms": [ "HIV-1 Vpr-binding ankyrin repeat protein", "MASK", "MASK1", "PP2500", "VBARP", "VPR-binding ankyrin repeat protein", "ankyrin repeat and KH domain-containing protein 1", "hMASK", "multiple ankyrin repeats single KH domain", "multiple ankyrin repeats, single KH-domain homolog" ], "secondaryIds": [ "RGD:1606539" ], "genomeLocations": [ { "strand": "+", "endPosition": 140541168, "chromosome": "5", "assembly": "GRCh38", "startPosition": 140401660 } ], "primaryId": "HGNC:24714", "crossReferences": [ { "id": "ENSEMBL:ENSG00000131503" }, { "id": "NCBI_Gene:54882" }, { "id": "PANTHER:PTHR23206" }, { "id": "UniProtKB:Q8IWZ3" }, { "pages": [ "gene/references" ], "id": "RGD:1606539" }, { "pages": [ "gene" ], "id": "HGNC:24714" }, { "id": "RGD:1606539" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKHD1-DT", "geneSynopsis": "INTERACTS WITH okadaic acid", "soTermId": "SO:0001263", "name": "ANKHD1 divergent transcript", "basicGeneticEntity": { "secondaryIds": [ "RGD:126848818" ], "genomeLocations": [ { "strand": "-", "endPosition": 140401706, "chromosome": "5", "assembly": "GRCh38", "startPosition": 140365437 } ], "primaryId": "HGNC:55564", "crossReferences": [ { "id": "ENSEMBL:ENSG00000249637" }, { "id": "NCBI_Gene:121232368" }, { "pages": [ "gene/references" ], "id": "RGD:126848818" }, { "pages": [ "gene" ], "id": "HGNC:55564" }, { "id": "RGD:126848818" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKHD1-EIF4EBP3", "geneSynopsis": "The ANKHD1-EIF4EBP3 mRNA is an infrequent but naturally occurring readthrough transcript of the neighboring ANKHD1 and EIF4EBP3 genes. This readthrough transcript encodes a protein composed mostly of the multiple ankyrin repeats, single KH-domain protein, with its C-terminus encoded in a different reading frame from the shared portion of the EIF4EBP3 gene. The significance of this readthrough mRNA and the function of its protein product have not yet been determined. [provided by RefSeq, Nov 2009]", "soTermId": "SO:0001217", "name": "ANKHD1-EIF4EBP3 readthrough", "basicGeneticEntity": { "synonyms": [ "MASK-4E-BP3 alternate reading frame", "MASK-BP3", "MASK-BP3arf" ], "secondaryIds": [ "RGD:1602794" ], "genomeLocations": [ { "strand": "+", "endPosition": 140549576, "chromosome": "5", "assembly": "GRCh38", "startPosition": 140401833 } ], "primaryId": "HGNC:33530", "crossReferences": [ { "id": "ENSEMBL:ENSG00000254996" }, { "id": "NCBI_Gene:404734" }, { "id": "PANTHER:PTHR23206" }, { "id": "UniProtKB:H7C0V5" }, { "id": "UniProtKB:Q8IWZ3" }, { "pages": [ "gene/references" ], "id": "RGD:1602794" }, { "pages": [ "gene" ], "id": "HGNC:33530" }, { "id": "RGD:1602794" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKIB1", "geneSynopsis": "Predicted to enable ubiquitin conjugating enzyme binding activity and ubiquitin protein ligase activity. Predicted to be involved in ubiquitin-dependent protein catabolic process. Predicted to be part of ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat and IBR domain containing 1", "basicGeneticEntity": { "synonyms": [ "DKFZp434A0225", "FLJ33123", "KIAA1386", "ankyrin repeat and IBR domain-containing protein 1" ], "secondaryIds": [ "RGD:1316285" ], "genomeLocations": [ { "strand": "+", "endPosition": 92402070, "chromosome": "7", "assembly": "GRCh38", "startPosition": 92245973 } ], "primaryId": "HGNC:22215", "crossReferences": [ { "id": "ENSEMBL:ENSG00000001629" }, { "id": "NCBI_Gene:54467" }, { "id": "PANTHER:PTHR11685" }, { "id": "UniProtKB:Q9P2G1" }, { "pages": [ "gene/references" ], "id": "RGD:1316285" }, { "pages": [ "gene" ], "id": "HGNC:22215" }, { "id": "RGD:1316285" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKK1", "geneSynopsis": "The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009]", "soTermId": "SO:0001217", "name": "ankyrin repeat and kinase domain containing 1", "basicGeneticEntity": { "synonyms": [ "DRD2", "PKK2", "X-kinase", "ankyrin repeat and protein kinase domain-containing protein 1", "protein kinase PKK2", "sgK288", "sugen kinase 288" ], "secondaryIds": [ "RGD:1313623" ], "genomeLocations": [ { "strand": "+", "endPosition": 113400416, "chromosome": "11", "assembly": "GRCh38", "startPosition": 113387779 } ], "primaryId": "HGNC:21027", "crossReferences": [ { "id": "ENSEMBL:ENSG00000170209" }, { "id": "NCBI_Gene:255239" }, { "id": "PANTHER:PTHR24198" }, { "id": "UniProtKB:Q8NFD2" }, { "pages": [ "gene/references" ], "id": "RGD:1313623" }, { "pages": [ "gene" ], "id": "HGNC:21027" }, { "id": "RGD:1313623" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKLE1", "geneSynopsis": "Enables endonuclease activity. Involved in DNA damage response and protein export from nucleus. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat and LEM domain containing 1", "basicGeneticEntity": { "synonyms": [ "ANKRD41", "FLJ39369", "LEM domain containing 6", "LEM-domain containing 3", "LEM-domain containing protein 3", "LEM3", "LEMD6", "ankyrin repeat and LEM domain-containing protein 1", "ankyrin repeat domain 41", "ankyrin repeat domain-containing protein 41", "structure-specific endonuclease ANKLE1" ], "secondaryIds": [ "RGD:1605878" ], "genomeLocations": [ { "strand": "+", "endPosition": 17287649, "chromosome": "19", "assembly": "GRCh38", "startPosition": 17281645 } ], "primaryId": "HGNC:26812", "crossReferences": [ { "id": "ENSEMBL:ENSG00000160117" }, { "id": "NCBI_Gene:126549" }, { "id": "PANTHER:PTHR46427" }, { "id": "UniProtKB:Q8NAG6" }, { "pages": [ "gene/references" ], "id": "RGD:1605878" }, { "pages": [ "gene" ], "id": "HGNC:26812" }, { "id": "RGD:1605878" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKLE2", "geneSynopsis": "This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]", "soTermId": "SO:0001217", "name": "ankyrin repeat and LEM domain containing 2", "basicGeneticEntity": { "synonyms": [ "FLJ22280", "FLJ36132", "KIAA0692", "LEM domain containing 7", "LEM domain-containing protein 4", "LEM-domain protein 4", "LEMD7", "Lem4", "MCPH16", "ankyrin repeat and LEM domain-containing protein 2" ], "secondaryIds": [ "RGD:1604388" ], "genomeLocations": [ { "strand": "-", "endPosition": 132761832, "chromosome": "12", "assembly": "GRCh38", "startPosition": 132725503 } ], "primaryId": "HGNC:29101", "crossReferences": [ { "id": "ENSEMBL:ENSG00000176915" }, { "id": "NCBI_Gene:23141" }, { "id": "PANTHER:PTHR12349" }, { "id": "UniProtKB:Q86XL3" }, { "pages": [ "gene/references" ], "id": "RGD:1604388" }, { "pages": [ "gene" ], "id": "HGNC:29101" }, { "id": "RGD:1604388" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKMY1", "geneSynopsis": "Predicted to enable zinc ion binding activity. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat and MYND domain containing 1", "basicGeneticEntity": { "synonyms": [ "DKFZp686D20155", "DKFZp686L21237", "FLJ20499", "ZMYND13", "ankyrin repeat and MYND domain-containing protein 1", "testis specific ankyrin-like protein 1", "testis-specific ankyrin-like protein 1", "zinc finger MYND domain-containing protein 13" ], "secondaryIds": [ "RGD:1345862" ], "genomeLocations": [ { "strand": "-", "endPosition": 240569209, "chromosome": "2", "assembly": "GRCh38", "startPosition": 240468632 } ], "primaryId": "HGNC:20987", "crossReferences": [ { "id": "ENSEMBL:ENSG00000144504" }, { "id": "NCBI_Gene:51281" }, { "id": "PANTHER:PTHR15897" }, { "id": "UniProtKB:Q9P2S6" }, { "pages": [ "gene/references" ], "id": "RGD:1345862" }, { "pages": [ "gene" ], "id": "HGNC:20987" }, { "id": "RGD:1345862" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKMY2", "geneSynopsis": "Predicted to enable enzyme binding activity and zinc ion binding activity. Predicted to be located in cilium. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat and MYND domain containing 2", "basicGeneticEntity": { "synonyms": [ "DKFZp564O043", "ZMYND20", "ankyrin repeat and MYND domain-containing protein 2" ], "secondaryIds": [ "RGD:1314392" ], "genomeLocations": [ { "strand": "-", "endPosition": 16645831, "chromosome": "7", "assembly": "GRCh38", "startPosition": 16599779 } ], "primaryId": "HGNC:25370", "crossReferences": [ { "id": "ENSEMBL:ENSG00000106524" }, { "id": "NCBI_Gene:57037" }, { "id": "PANTHER:PTHR24150" }, { "id": "UniProtKB:Q8IV38" }, { "pages": [ "gene/references" ], "id": "RGD:1314392" }, { "pages": [ "gene" ], "id": "HGNC:25370" }, { "id": "RGD:1314392" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRA2", "geneSynopsis": "Enables enzyme binding activity and low-density lipoprotein particle receptor binding activity. Involved in regulation of protein-containing complex assembly. Located in 3M complex; cytosol; and membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat family A member 2", "basicGeneticEntity": { "synonyms": [ "ANKRA", "RFXANK-like protein 2", "ankyrin repeat family A protein 2", "ankyrin repeat, family A (RFXANK-like), 2" ], "secondaryIds": [ "RGD:1347651" ], "genomeLocations": [ { "strand": "-", "endPosition": 73565712, "chromosome": "5", "assembly": "GRCh38", "startPosition": 73552190 } ], "primaryId": "HGNC:13208", "crossReferences": [ { "id": "ENSEMBL:ENSG00000164331" }, { "id": "NCBI_Gene:57763" }, { "id": "PANTHER:PTHR24124" }, { "id": "UniProtKB:Q9H9E1" }, { "pages": [ "gene/references" ], "id": "RGD:1347651" }, { "pages": [ "gene" ], "id": "HGNC:13208" }, { "id": "RGD:1347651" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD1", "geneSynopsis": "The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 1", "basicGeneticEntity": { "synonyms": [ "ALRP", "C-193", "CARP", "CVARP", "MCARP", "ankyrin repeat domain 1 (cardiac muscle)", "ankyrin repeat domain-containing protein 1", "bA320F15.2", "cardiac ankyrin repeat protein", "cytokine-inducible gene C-193 protein", "cytokine-inducible nuclear protein", "liver ankyrin repeat domain 1" ], "secondaryIds": [ "RGD:1348352" ], "genomeLocations": [ { "strand": "-", "endPosition": 90921091, "chromosome": "10", "assembly": "GRCh38", "startPosition": 90912092 } ], "primaryId": "HGNC:15819", "crossReferences": [ { "id": "ENSEMBL:ENSG00000148677" }, { "id": "NCBI_Gene:27063" }, { "id": "PANTHER:PTHR24126" }, { "id": "UniProtKB:Q15327" }, { "pages": [ "gene/references" ], "id": "RGD:1348352" }, { "pages": [ "gene" ], "id": "HGNC:15819" }, { "id": "RGD:1348352" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD10", "geneSynopsis": "Predicted to be involved in protein targeting to chloroplast. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 10", "basicGeneticEntity": { "synonyms": [ "DKFZp686B07190", "FLJ20093", "ankyrin repeat domain-containing protein 10" ], "secondaryIds": [ "RGD:1321439" ], "genomeLocations": [ { "strand": "-", "endPosition": 110915071, "chromosome": "13", "assembly": "GRCh38", "startPosition": 110878540 } ], "primaryId": "HGNC:20265", "crossReferences": [ { "id": "ENSEMBL:ENSG00000088448" }, { "id": "NCBI_Gene:55608" }, { "id": "PANTHER:PTHR24201" }, { "id": "UniProtKB:Q9NXR5" }, { "pages": [ "gene/references" ], "id": "RGD:1321439" }, { "pages": [ "gene" ], "id": "HGNC:20265" }, { "id": "RGD:1321439" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD10-IT1", "geneSynopsis": "INTERACTS WITH acrylamide; aristolochic acid A; methylparaben", "soTermId": "SO:0001263", "name": "ANKRD10 intronic transcript 1", "basicGeneticEntity": { "synonyms": [ "FLJ42239" ], "secondaryIds": [ "RGD:5130813" ], "genomeLocations": [ { "strand": "-", "endPosition": 110899172, "chromosome": "13", "assembly": "GRCh38", "startPosition": 110894639 } ], "primaryId": "HGNC:39891", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229152" }, { "id": "NCBI_Gene:100505494" }, { "pages": [ "gene/references" ], "id": "RGD:5130813" }, { "pages": [ "gene" ], "id": "HGNC:39891" }, { "id": "RGD:5130813" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD11", "geneSynopsis": "This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 11", "basicGeneticEntity": { "synonyms": [ "ANCO-1", "ANCO1", "KBGS", "LZ16", "T13", "ankyrin repeat domain containing 11", "ankyrin repeat domain-containing protein 11", "ankyrin repeat-containing cofactor 1", "ankyrin repeat-containing protein 11", "ankyrin repeats containing cofactor 1", "nasopharyngeal carcinoma susceptibility protein", "truncated ankyrin repeat domain 11 aberrant transcript 1", "truncated ankyrin repeat domain 11 aberrant transcript 2" ], "secondaryIds": [ "RGD:1315433" ], "genomeLocations": [ { "strand": "-", "endPosition": 89490561, "chromosome": "16", "assembly": "GRCh38", "startPosition": 89267619 } ], "primaryId": "HGNC:21316", "crossReferences": [ { "id": "ENSEMBL:ENSG00000167522" }, { "id": "NCBI_Gene:29123" }, { "id": "PANTHER:PTHR24145" }, { "id": "UniProtKB:Q6UB99" }, { "pages": [ "gene/references" ], "id": "RGD:1315433" }, { "pages": [ "gene" ], "id": "HGNC:21316" }, { "id": "RGD:1315433" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD11P1", "soTermId": "SO:0000336", "name": "ANKRD11 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AC105342.1", "ankyrin repeat domain 11 (ANKRD11) pseudogene" ], "secondaryIds": [ "RGD:15091112" ], "genomeLocations": [ { "strand": "-", "endPosition": 81201184, "chromosome": "2", "assembly": "GRCh38", "startPosition": 81194139 } ], "primaryId": "HGNC:54737", "crossReferences": [ { "id": "ENSEMBL:ENSG00000234429" }, { "id": "NCBI_Gene:100287912" }, { "pages": [ "gene/references" ], "id": "RGD:15091112" }, { "pages": [ "gene" ], "id": "HGNC:54737" }, { "id": "RGD:15091112" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD11P2", "soTermId": "SO:0000336", "name": "ANKRD11 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:15090893" ], "genomeLocations": [ { "strand": "-", "endPosition": 146620764, "chromosome": "X", "assembly": "GRCh38", "startPosition": 146619390 } ], "primaryId": "HGNC:54738", "crossReferences": [ { "id": "NCBI_Gene:100419906" }, { "pages": [ "gene/references" ], "id": "RGD:15090893" }, { "pages": [ "gene" ], "id": "HGNC:54738" }, { "id": "RGD:15090893" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD12", "geneSynopsis": "This gene encodes a member of the ankyrin repeats-containing cofactor family. These proteins may inhibit the transcriptional activity of nuclear receptors through the recruitment of histone deacetylases. The encoded protein interacts with p160 coactivators and also represses transcription mediated by the coactivator alteration/deficiency in activation 3 (ADA3). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 12", "basicGeneticEntity": { "synonyms": [ "ANCO-2", "ANCO1", "FLJ20053", "GAC-1", "KIAA0874", "Nbla00144", "ankyrin repeat domain-containing protein 12", "ankyrin repeat-containing cofactor 2", "ankyrin repeats containing cofactor 2", "putative protein product of Nbla00144" ], "secondaryIds": [ "RGD:1320836" ], "genomeLocations": [ { "strand": "+", "endPosition": 9285985, "chromosome": "18", "assembly": "GRCh38", "startPosition": 9136228 } ], "primaryId": "HGNC:29135", "crossReferences": [ { "id": "ENSEMBL:ENSG00000101745" }, { "id": "NCBI_Gene:23253" }, { "id": "PANTHER:PTHR24149" }, { "id": "UniProtKB:Q6UB98" }, { "pages": [ "gene/references" ], "id": "RGD:1320836" }, { "pages": [ "gene" ], "id": "HGNC:29135" }, { "id": "RGD:1320836" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD13A", "geneSynopsis": "Enables ubiquitin-modified protein reader activity. Involved in negative regulation of protein localization to endosome and negative regulation of receptor internalization. Located in late endosome; perinuclear region of cytoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 13A", "basicGeneticEntity": { "synonyms": [ "ANKRD13", "NY-REN-25", "NY-REN-25 antigen", "ankyrin repeat domain 13", "ankyrin repeat domain-containing protein 13A" ], "secondaryIds": [ "RGD:1318431" ], "genomeLocations": [ { "strand": "+", "endPosition": 110039763, "chromosome": "12", "assembly": "GRCh38", "startPosition": 109999186 } ], "primaryId": "HGNC:21268", "crossReferences": [ { "id": "ENSEMBL:ENSG00000076513" }, { "id": "NCBI_Gene:88455" }, { "id": "PANTHER:PTHR12447" }, { "id": "UniProtKB:Q8IZ07" }, { "pages": [ "gene/references" ], "id": "RGD:1318431" }, { "pages": [ "gene" ], "id": "HGNC:21268" }, { "id": "RGD:1318431" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD13B", "geneSynopsis": "Enables ubiquitin-modified protein reader activity. Involved in negative regulation of receptor internalization. Located in endosome; perinuclear region of cytoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 13B", "basicGeneticEntity": { "synonyms": [ "FLJ20418", "FLJ25555", "ankyrin repeat domain-containing protein 13B" ], "secondaryIds": [ "RGD:1606740" ], "genomeLocations": [ { "strand": "+", "endPosition": 29614761, "chromosome": "17", "assembly": "GRCh38", "startPosition": 29589769 } ], "primaryId": "HGNC:26363", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198720" }, { "id": "NCBI_Gene:124930" }, { "id": "PANTHER:PTHR12447" }, { "id": "UniProtKB:Q86YJ7" }, { "pages": [ "gene/references" ], "id": "RGD:1606740" }, { "pages": [ "gene" ], "id": "HGNC:26363" }, { "id": "RGD:1606740" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD13C", "geneSynopsis": "Enables signaling receptor binding activity. Involved in protein retention in ER lumen; regulation of anoikis; and regulation of signaling receptor activity. Located in endoplasmic reticulum and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 13C", "basicGeneticEntity": { "synonyms": [ "DKFZp566D1346", "FLJ14998", "RP4-677H15.5", "ankyrin repeat domain-containing protein 13C", "dJ677H15.3" ], "secondaryIds": [ "RGD:1604586" ], "genomeLocations": [ { "strand": "-", "endPosition": 70354734, "chromosome": "1", "assembly": "GRCh38", "startPosition": 70258999 } ], "primaryId": "HGNC:25374", "crossReferences": [ { "id": "ENSEMBL:ENSG00000118454" }, { "id": "NCBI_Gene:81573" }, { "id": "PANTHER:PTHR12447" }, { "id": "UniProtKB:Q8N6S4" }, { "pages": [ "gene/references" ], "id": "RGD:1604586" }, { "pages": [ "gene" ], "id": "HGNC:25374" }, { "id": "RGD:1604586" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD13C-DT", "geneSynopsis": "INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-aza-2'-deoxycytidine", "soTermId": "SO:0001263", "name": "ANKRD13C divergent transcript", "basicGeneticEntity": { "synonyms": [ "HERV-H LTR-associating 3", "HERV-H LTR-associating protein 3", "HHLA3", "human endogenous retrovirus-H long terminal repeat-associating 3", "human endogenous retrovirus-H long terminal repeat-associating protein 3" ], "secondaryIds": [ "RGD:1351999" ], "genomeLocations": [ { "strand": "+", "endPosition": 70385339, "chromosome": "1", "assembly": "GRCh38", "startPosition": 70354780 } ], "primaryId": "HGNC:4906", "crossReferences": [ { "id": "ENSEMBL:ENSG00000197568" }, { "id": "NCBI_Gene:11147" }, { "id": "UniProtKB:Q9XRX5" }, { "pages": [ "gene/references" ], "id": "RGD:1351999" }, { "pages": [ "gene" ], "id": "HGNC:4906" }, { "id": "RGD:1351999" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD13D", "geneSynopsis": "The protein encoded by this gene is a member of the ankyrin repeat domain (ANKRD) 13 family, which currently consists of four proteins containing ubiquitin-interacting motifs. These proteins are integral membrane proteins that bind specifically to Lys-63-linked ubiquitin chains on membrane-bound proteins, targeting those proteins for rapid internalization. [provided by RefSeq, Dec 2016]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 13D", "basicGeneticEntity": { "synonyms": [ "MGC50828", "ankyrin repeat domain 13 family member D", "ankyrin repeat domain 13 family, member D", "ankyrin repeat domain-containing protein 13D" ], "secondaryIds": [ "RGD:1605234" ], "genomeLocations": [ { "strand": "+", "endPosition": 67302486, "chromosome": "11", "assembly": "GRCh38", "startPosition": 67289291 } ], "primaryId": "HGNC:27880", "crossReferences": [ { "id": "ENSEMBL:ENSG00000172932" }, { "id": "NCBI_Gene:338692" }, { "id": "PANTHER:PTHR12447" }, { "id": "UniProtKB:Q6ZTN6" }, { "pages": [ "gene/references" ], "id": "RGD:1605234" }, { "pages": [ "gene" ], "id": "HGNC:27880" }, { "id": "RGD:1605234" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD16", "geneSynopsis": "Predicted to be involved in tRNA modification. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 16", "basicGeneticEntity": { "synonyms": [ "ankyrin repeat domain-containing protein 16" ], "secondaryIds": [ "RGD:1322851" ], "genomeLocations": [ { "strand": "-", "endPosition": 5889906, "chromosome": "10", "assembly": "GRCh38", "startPosition": 5861616 } ], "primaryId": "HGNC:23471", "crossReferences": [ { "id": "ENSEMBL:ENSG00000134461" }, { "id": "NCBI_Gene:54522" }, { "id": "PANTHER:PTHR24173" }, { "id": "UniProtKB:Q6P6B7" }, { "pages": [ "gene/references" ], "id": "RGD:1322851" }, { "pages": [ "gene" ], "id": "HGNC:23471" }, { "id": "RGD:1322851" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD17", "geneSynopsis": "The protein encoded by this gene belongs to the family of ankyrin repeat-containing proteins, and contains two distinct arrays of ankyrin repeats in its amino-terminal region, one with 15 ankyrin repeats, and the other with 10 ankyrin repeats. It also contains a nuclear export signal, nuclear localization signal, and a cyclin-binding RXL motif. Localization of this protein to the nucleus has been shown experimentally, and interactions between this protein and cyclin-dependent kinase 2 have been observed. It has been suggested that this protein plays a role in both DNA replication and in both anti-viral and anti-bacterial innate immune pathways. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 17", "basicGeneticEntity": { "synonyms": [ "CAGS", "FLJ22206", "GTAR", "KIAA0697", "MASK2", "NY-BR-16", "ankyrin repeat domain-containing protein 17", "gene trap ankyrin repeat protein", "serologically defined breast cancer antigen NY-BR-16" ], "secondaryIds": [ "RGD:1607057" ], "genomeLocations": [ { "strand": "-", "endPosition": 73259147, "chromosome": "4", "assembly": "GRCh38", "startPosition": 73073376 } ], "primaryId": "HGNC:23575", "crossReferences": [ { "id": "ENSEMBL:ENSG00000132466" }, { "id": "NCBI_Gene:26057" }, { "id": "PANTHER:PTHR23206" }, { "id": "UniProtKB:O75179" }, { "pages": [ "gene/references" ], "id": "RGD:1607057" }, { "pages": [ "gene" ], "id": "HGNC:23575" }, { "id": "RGD:1607057" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD17-AS1", "soTermId": "SO:0001263", "name": "ANKRD17 antisense RNA1", "basicGeneticEntity": { "synonyms": [ "LOC124900713", "uncharacterized LOC124900713" ], "secondaryIds": [ "RGD:151674837" ], "genomeLocations": [ { "strand": "+", "endPosition": 73110740, "chromosome": "4", "assembly": "GRCh38", "startPosition": 73104345 } ], "primaryId": "HGNC:58814", "crossReferences": [ { "id": "ENSEMBL:ENSG00000303699" }, { "id": "NCBI_Gene:124900713" }, { "pages": [ "gene/references" ], "id": "RGD:151674837" }, { "pages": [ "gene" ], "id": "HGNC:58814" }, { "id": "RGD:151674837" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD17-DT", "soTermId": "SO:0001263", "name": "ANKRD17 divergent transcript", "basicGeneticEntity": { "synonyms": [ "LOC102724832", "LOC124900606", "uncharacterized LOC102724832", "uncharacterized LOC124900606" ], "secondaryIds": [ "RGD:38675755" ], "genomeLocations": [ { "strand": "+", "endPosition": 73359023, "chromosome": "4", "assembly": "GRCh38", "startPosition": 73258885 } ], "primaryId": "HGNC:55556", "crossReferences": [ { "id": "ENSEMBL:ENSG00000250220" }, { "id": "NCBI_Gene:102724832" }, { "pages": [ "gene/references" ], "id": "RGD:38675755" }, { "pages": [ "gene" ], "id": "HGNC:55556" }, { "id": "RGD:38675755" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD18A", "geneSynopsis": "ASSOCIATED WITH Lung Neoplasms; INTERACTS WITH benzo[a]pyrene; bisphenol A; coumestrol", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 18A", "basicGeneticEntity": { "synonyms": [ "FLJ35740", "FLJ40632", "KIAA2015", "MGC176674", "ankyrin repeat domain-containing protein 18A" ], "secondaryIds": [ "RGD:1352126" ], "genomeLocations": [ { "strand": "-", "endPosition": 38620596, "chromosome": "9", "assembly": "GRCh38", "startPosition": 38540567 } ], "primaryId": "HGNC:23643", "crossReferences": [ { "id": "ENSEMBL:ENSG00000180071" }, { "id": "NCBI_Gene:253650" }, { "id": "PANTHER:PTHR24147" }, { "id": "UniProtKB:Q8IVF6" }, { "pages": [ "gene/references" ], "id": "RGD:1352126" }, { "pages": [ "gene" ], "id": "HGNC:23643" }, { "id": "RGD:1352126" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD18B", "geneSynopsis": "INTERACTS WITH 17beta-estradiol; all-trans-retinoic acid; aristolochic acid A", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 18B", "basicGeneticEntity": { "synonyms": [ "ankyrin repeat domain-containing protein 18B", "bA255A11.3", "bA255A11.5" ], "secondaryIds": [ "RGD:1351862" ], "genomeLocations": [ { "strand": "+", "endPosition": 33608848, "chromosome": "9", "assembly": "GRCh38", "startPosition": 33524251 } ], "primaryId": "HGNC:23644", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230453" }, { "id": "NCBI_Gene:441459" }, { "id": "PANTHER:PTHR24147" }, { "id": "UniProtKB:A2A2Z9" }, { "pages": [ "gene/references" ], "id": "RGD:1351862" }, { "pages": [ "gene" ], "id": "HGNC:23644" }, { "id": "RGD:1351862" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD18CP", "geneSynopsis": "INTERACTS WITH benzo[a]pyrene; copper atom; copper(0)", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 18C, pseudogene", "basicGeneticEntity": { "synonyms": [ "FLJ25898", "FLJ99517" ], "secondaryIds": [ "RGD:5684153" ], "genomeLocations": [ { "strand": "-", "endPosition": 97238742, "chromosome": "9", "assembly": "GRCh38", "startPosition": 97155893 } ], "primaryId": "HGNC:43601", "crossReferences": [ { "id": "ENSEMBL:ENSG00000159712" }, { "id": "NCBI_Gene:101926917" }, { "pages": [ "gene/references" ], "id": "RGD:5684153" }, { "pages": [ "gene" ], "id": "HGNC:43601" }, { "id": "RGD:5684153" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD18DP", "geneSynopsis": "INTERACTS WITH cadmium dichloride; valproic acid", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 18D, pseudogene", "basicGeneticEntity": { "secondaryIds": [ "RGD:1605802" ], "genomeLocations": [ { "strand": "-", "endPosition": 198081921, "chromosome": "3", "assembly": "GRCh38", "startPosition": 198027956 } ], "primaryId": "HGNC:28016", "crossReferences": [ { "id": "ENSEMBL:ENSG00000291192" }, { "id": "ENSEMBL:ENSG00000232832" }, { "id": "ENSEMBL:ENSG00000226435" }, { "id": "NCBI_Gene:348840" }, { "pages": [ "gene/references" ], "id": "RGD:1605802" }, { "pages": [ "gene" ], "id": "HGNC:28016" }, { "id": "RGD:1605802" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD18EP", "geneSynopsis": "INTERACTS WITH aristolochic acid A", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 18E, pseudogene", "basicGeneticEntity": { "synonyms": [ "uncharacterized protein LOC100131031" ], "secondaryIds": [ "RGD:6480412" ], "genomeLocations": [ { "strand": "+", "endPosition": 39112952, "chromosome": "6", "assembly": "GRCh38", "startPosition": 39110321 } ], "primaryId": "HGNC:43609", "crossReferences": [ { "id": "ENSEMBL:ENSG00000217165" }, { "id": "NCBI_Gene:100131031" }, { "pages": [ "gene/references" ], "id": "RGD:6480412" }, { "pages": [ "gene" ], "id": "HGNC:43609" }, { "id": "RGD:6480412" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD18FP", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 18F, pseudogene", "basicGeneticEntity": { "secondaryIds": [ "RGD:155634543" ], "genomeLocations": [ { "strand": "-", "endPosition": 170631, "chromosome": "6", "assembly": "GRCh38", "startPosition": 167607 } ], "primaryId": "HGNC:56404", "crossReferences": [ { "id": "ENSEMBL:ENSG00000218577" }, { "id": "NCBI_Gene:127379688" }, { "pages": [ "gene/references" ], "id": "RGD:155634543" }, { "pages": [ "gene" ], "id": "HGNC:56404" }, { "id": "RGD:155634543" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD19P", "geneSynopsis": "INTERACTS WITH 4,4'-sulfonyldiphenol; 4-aminobenzohydrazide; all-trans-retinoic acid", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 19, pseudogene", "basicGeneticEntity": { "synonyms": [ "ANKRD19", "FLJ36178", "bA526D8.2" ], "secondaryIds": [ "RGD:1604746" ], "genomeLocations": [ { "strand": "+", "endPosition": 92838458, "chromosome": "9", "assembly": "GRCh38", "startPosition": 92808811 } ], "primaryId": "HGNC:22567", "crossReferences": [ { "id": "ENSEMBL:ENSG00000291168" }, { "id": "ENSEMBL:ENSG00000187984" }, { "id": "NCBI_Gene:138649" }, { "id": "PANTHER:PTHR24147" }, { "id": "UniProtKB:Q9H560" }, { "pages": [ "gene/references" ], "id": "RGD:1604746" }, { "pages": [ "gene" ], "id": "HGNC:22567" }, { "id": "RGD:1604746" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD2", "geneSynopsis": "This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 2", "basicGeneticEntity": { "synonyms": [ "ARPP", "MGC104314", "ankyrin repeat domain 2 (stretch responsive muscle)", "ankyrin repeat domain-containing protein 2", "ankyrin-repeat protein", "hArpp", "skeletal muscle ankyrin repeat protein" ], "secondaryIds": [ "RGD:1312939" ], "genomeLocations": [ { "strand": "+", "endPosition": 97583896, "chromosome": "10", "assembly": "GRCh38", "startPosition": 97572441 } ], "primaryId": "HGNC:495", "crossReferences": [ { "id": "ENSEMBL:ENSG00000165887" }, { "id": "NCBI_Gene:26287" }, { "id": "PANTHER:PTHR24126" }, { "id": "UniProtKB:Q9GZV1" }, { "pages": [ "gene/references" ], "id": "RGD:1312939" }, { "pages": [ "gene" ], "id": "HGNC:495" }, { "id": "RGD:1312939" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD20A1", "geneSynopsis": "Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 20 family member A1", "basicGeneticEntity": { "synonyms": [ "ANKRD20A", "DKFZp434A171", "ankyrin repeat domain 20 family, member A1", "ankyrin repeat domain 20A", "ankyrin repeat domain-containing protein 20A1" ], "secondaryIds": [ "RGD:1343235" ], "genomeLocations": [ { "strand": "+", "endPosition": 67920552, "chromosome": "9", "assembly": "GRCh38", "startPosition": 67832765 } ], "primaryId": "HGNC:23665", "crossReferences": [ { "id": "ENSEMBL:ENSG00000260691" }, { "id": "NCBI_Gene:84210" }, { "id": "PANTHER:PTHR24147" }, { "id": "UniProtKB:Q5TYW2" }, { "pages": [ "gene/references" ], "id": "RGD:1343235" }, { "pages": [ "gene" ], "id": "HGNC:23665" }, { "id": "RGD:1343235" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD20A10P", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 20 family member A10, pseudogene", "basicGeneticEntity": { "synonyms": [ "ANKRD20A4P1" ], "secondaryIds": [ "RGD:5129379" ], "genomeLocations": [ { "strand": "-", "endPosition": 24752333, "chromosome": "13", "assembly": "GRCh38", "startPosition": 24750657 } ], "primaryId": "HGNC:39707", "crossReferences": [ { "id": "ENSEMBL:ENSG00000226695" }, { "id": "NCBI_Gene:100421422" }, { "pages": [ "gene/references" ], "id": "RGD:5129379" }, { "pages": [ "gene" ], "id": "HGNC:39707" }, { "id": "RGD:5129379" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD20A11P", "geneSynopsis": "INTERACTS WITH 2-hydroxypropanoic acid; actinomycin D; aristolochic acid A", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 20 family member A11, pseudogene", "basicGeneticEntity": { "synonyms": [ "C21orf81", "MGC44241" ], "secondaryIds": [ "RGD:1344304" ], "genomeLocations": [ { "strand": "-", "endPosition": 13980444, "chromosome": "21", "assembly": "GRCh38", "startPosition": 13909574 } ], "primaryId": "HGNC:42024", "crossReferences": [ { "id": "ENSEMBL:ENSG00000215559" }, { "id": "ENSEMBL:ENSG00000291280" }, { "id": "NCBI_Gene:391267" }, { "pages": [ "gene/references" ], "id": "RGD:1344304" }, { "pages": [ "gene" ], "id": "HGNC:42024" }, { "id": "RGD:1344304" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD20A12P", "geneSynopsis": "INTERACTS WITH benzo[a]pyrene; benzo[a]pyrene diol epoxide I; bisphenol A", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 20 family member A12, pseudogene", "basicGeneticEntity": { "synonyms": [ "FLJ00310" ], "secondaryIds": [ "RGD:6480986" ], "primaryId": "HGNC:43603", "crossReferences": [ { "id": "NCBI_Gene:100874392" }, { "id": "PANTHER:PTHR24147" }, { "id": "UniProtKB:Q8NF67" }, { "pages": [ "gene/references" ], "id": "RGD:6480986" }, { "pages": [ "gene" ], "id": "HGNC:43603" }, { "id": "RGD:6480986" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD20A13P", "geneSynopsis": "INTERACTS WITH antimycin A; azoxystrobin; deguelin", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 20 family member A13, pseudogene", "basicGeneticEntity": { "secondaryIds": [ "RGD:6480411" ], "primaryId": "HGNC:43604", "crossReferences": [ { "id": "NCBI_Gene:100132733" }, { "pages": [ "gene/references" ], "id": "RGD:6480411" }, { "pages": [ "gene" ], "id": "HGNC:43604" }, { "id": "RGD:6480411" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD20A14P", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 20 family member A14, pseudogene", "basicGeneticEntity": { "secondaryIds": [ "RGD:6480383" ], "primaryId": "HGNC:43605", "crossReferences": [ { "id": "NCBI_Gene:100533719" }, { "pages": [ "gene/references" ], "id": "RGD:6480383" }, { "pages": [ "gene" ], "id": "HGNC:43605" }, { "id": "RGD:6480383" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD20A15P", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 20 family member A15, pseudogene", "basicGeneticEntity": { "secondaryIds": [ "RGD:6480384" ], "primaryId": "HGNC:43606", "crossReferences": [ { "id": "NCBI_Gene:100533720" }, { "pages": [ "gene/references" ], "id": "RGD:6480384" }, { "pages": [ "gene" ], "id": "HGNC:43606" }, { "id": "RGD:6480384" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD20A16P", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 20 family member A16, pseudogene", "basicGeneticEntity": { "secondaryIds": [ "RGD:6480404" ], "genomeLocations": [ { "strand": "+", "endPosition": 8881176, "chromosome": "21", "assembly": "GRCh38", "startPosition": 8877127 } ], "primaryId": "HGNC:43607", "crossReferences": [ { "id": "NCBI_Gene:100421427" }, { "pages": [ "gene/references" ], "id": "RGD:6480404" }, { "pages": [ "gene" ], "id": "HGNC:43607" }, { "id": "RGD:6480404" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD20A17P", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 20 family member A17, pseudogene", "basicGeneticEntity": { "secondaryIds": [ "RGD:6480405" ], "genomeLocations": [ { "strand": "-", "endPosition": 49506026, "chromosome": "4", "assembly": "GRCh38", "startPosition": 49501948 } ], "primaryId": "HGNC:43608", "crossReferences": [ { "id": "ENSEMBL:ENSG00000251056" }, { "id": "NCBI_Gene:100421363" }, { "pages": [ "gene/references" ], "id": "RGD:6480405" }, { "pages": [ "gene" ], "id": "HGNC:43608" }, { "id": "RGD:6480405" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD20A18P", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 20 family member A18, pseudogene", "basicGeneticEntity": { "synonyms": [ "C21orf126" ], "secondaryIds": [ "RGD:1343328" ], "genomeLocations": [ { "strand": "+", "endPosition": 14069088, "chromosome": "21", "assembly": "GRCh38", "startPosition": 14064250 } ], "primaryId": "HGNC:23756", "crossReferences": [ { "id": "ENSEMBL:ENSG00000249493" }, { "id": "NCBI_Gene:391269" }, { "pages": [ "gene/references" ], "id": "RGD:1343328" }, { "pages": [ "gene" ], "id": "HGNC:23756" }, { "id": "RGD:1343328" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD20A19P", "geneSynopsis": "INTERACTS WITH Aflatoxin B2 alpha; cadmium dichloride; copper atom", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 20 family member A19, pseudogene", "basicGeneticEntity": { "synonyms": [ "FLJ46358", "hypothetical protein LOC400110", "putative uncharacterized protein FLJ46358" ], "secondaryIds": [ "RGD:1604144" ], "genomeLocations": [ { "strand": "-", "endPosition": 23949315, "chromosome": "13", "assembly": "GRCh38", "startPosition": 23907284 } ], "primaryId": "HGNC:42737", "crossReferences": [ { "id": "ENSEMBL:ENSG00000196593" }, { "id": "NCBI_Gene:400110" }, { "pages": [ "gene/references" ], "id": "RGD:1604144" }, { "pages": [ "gene" ], "id": "HGNC:42737" }, { "id": "RGD:1604144" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD20A20P", "geneSynopsis": "INTERACTS WITH (+)-catechin; propanal", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 20 family member A20, pseudogene", "basicGeneticEntity": { "synonyms": [ "CCDC29" ], "secondaryIds": [ "RGD:1625836" ], "genomeLocations": [ { "strand": "+", "endPosition": 64436159, "chromosome": "9", "assembly": "GRCh38", "startPosition": 64418110 } ], "primaryId": "HGNC:32319", "crossReferences": [ { "id": "NCBI_Gene:728788" }, { "pages": [ "gene/references" ], "id": "RGD:1625836" }, { "pages": [ "gene" ], "id": "HGNC:32319" }, { "id": "RGD:1625836" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD20A21P", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 20 family member A21, pseudogene", "basicGeneticEntity": { "secondaryIds": [ "RGD:11353924" ], "genomeLocations": [ { "strand": "-", "endPosition": 30723916, "chromosome": "20", "assembly": "GRCh38", "startPosition": 30656033 } ], "primaryId": "HGNC:52329", "crossReferences": [ { "id": "ENSEMBL:ENSG00000277112" }, { "id": "NCBI_Gene:102723552" }, { "pages": [ "gene/references" ], "id": "RGD:11353924" }, { "pages": [ "gene" ], "id": "HGNC:52329" }, { "id": "RGD:11353924" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD20A2P", "geneSynopsis": "ASSOCIATED WITH Genetic Predisposition to Disease; Lung Neoplasms; INTERACTS WITH 8-Br-cAMP; benzo[a]pyrene; butanal", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 20 family member A2, pseudogene", "basicGeneticEntity": { "synonyms": [ "ANKRD20A2", "MGC176486", "ankyrin repeat domain 20 family member A2", "ankyrin repeat domain 20 family, member A2", "ankyrin repeat domain-containing protein 20A2" ], "secondaryIds": [ "RGD:1604891" ], "genomeLocations": [ { "strand": "+", "endPosition": 40349752, "chromosome": "9", "assembly": "GRCh38", "startPosition": 40222102 } ], "primaryId": "HGNC:31979", "crossReferences": [ { "id": "ENSEMBL:ENSG00000290718" }, { "id": "ENSEMBL:ENSG00000183148" }, { "id": "NCBI_Gene:441430" }, { "id": "PANTHER:PTHR24147" }, { "id": "UniProtKB:Q5SQ80" }, { "pages": [ "gene/references" ], "id": "RGD:1604891" }, { "pages": [ "gene" ], "id": "HGNC:31979" }, { "id": "RGD:1604891" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD20A3P", "geneSynopsis": "INTERACTS WITH cadmium atom; cadmium dichloride; S-nitrosoglutathione", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 20 family member A3, pseudogene", "basicGeneticEntity": { "synonyms": [ "ANKRD20A3" ], "secondaryIds": [ "RGD:30302049" ], "genomeLocations": [ { "strand": "-", "endPosition": 66153187, "chromosome": "9", "assembly": "GRCh38", "startPosition": 66083960 } ], "primaryId": "HGNC:31981", "crossReferences": [ { "id": "ENSEMBL:ENSG00000276203" }, { "id": "ENSEMBL:ENSG00000290971" }, { "id": "NCBI_Gene:441425" }, { "id": "PANTHER:PTHR24147" }, { "id": "UniProtKB:Q5VUR7" }, { "pages": [ "gene/references" ], "id": "RGD:30302049" }, { "pages": [ "gene" ], "id": "HGNC:31981" }, { "id": "RGD:30302049" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD20A4P", "geneSynopsis": "INTERACTS WITH antirheumatic drug; valproic acid", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 20 family member A4, pseudogene", "basicGeneticEntity": { "synonyms": [ "ANKRD20A4", "ankyrin repeat domain 20 family member A4", "ankyrin repeat domain 20 family, member A4", "ankyrin repeat domain-containing protein 20A4" ], "secondaryIds": [ "RGD:1625837" ], "genomeLocations": [ { "strand": "+", "endPosition": 64438574, "chromosome": "9", "assembly": "GRCh38", "startPosition": 64369563 } ], "primaryId": "HGNC:31982", "crossReferences": [ { "id": "ENSEMBL:ENSG00000172014" }, { "id": "NCBI_Gene:728747" }, { "id": "PANTHER:PTHR24147" }, { "id": "UniProtKB:Q4UJ75" }, { "pages": [ "gene/references" ], "id": "RGD:1625837" }, { "pages": [ "gene" ], "id": "HGNC:31982" }, { "id": "RGD:1625837" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD20A5P", "geneSynopsis": "INTERACTS WITH actinomycin D; arsenous acid; cadmium dichloride", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 20 family member A5, pseudogene", "basicGeneticEntity": { "synonyms": [ "ANKRD20A5", "MGC26718", "Putative ankyrin repeat domain-containing protein 20A-like protein MGC26718", "ankyrin repeat domain 20 family, member A5", "ankyrin repeat domain-containing protein 20A-like protein MGC26718", "putative ankyrin repeat domain-containing protein 20A5" ], "secondaryIds": [ "RGD:2304149" ], "genomeLocations": [ { "strand": "+", "endPosition": 14244811, "chromosome": "18", "assembly": "GRCh38", "startPosition": 14178898 } ], "primaryId": "HGNC:33833", "crossReferences": [ { "id": "ENSEMBL:ENSG00000186481" }, { "id": "ENSEMBL:ENSG00000293697" }, { "id": "NCBI_Gene:440482" }, { "id": "PANTHER:PTHR24147" }, { "id": "UniProtKB:A0PJZ0" }, { "pages": [ "gene/references" ], "id": "RGD:2304149" }, { "pages": [ "gene" ], "id": "HGNC:33833" }, { "id": "RGD:2304149" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD20A6P", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 20 family member A6, pseudogene", "basicGeneticEntity": { "secondaryIds": [ "RGD:3539631" ], "genomeLocations": [ { "strand": "+", "endPosition": 11173821, "chromosome": "Y", "assembly": "GRCh38", "startPosition": 11173324 } ], "primaryId": "HGNC:37714", "crossReferences": [ { "id": "ENSEMBL:ENSG00000274502" }, { "id": "NCBI_Gene:728157" }, { "pages": [ "gene/references" ], "id": "RGD:3539631" }, { "pages": [ "gene" ], "id": "HGNC:37714" }, { "id": "RGD:3539631" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD20A7P", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 20 family member A7, pseudogene", "basicGeneticEntity": { "secondaryIds": [ "RGD:4144668" ], "genomeLocations": [ { "strand": "+", "endPosition": 42920095, "chromosome": "9", "assembly": "GRCh38", "startPosition": 42852563 } ], "primaryId": "HGNC:31980", "crossReferences": [ { "id": "ENSEMBL:ENSG00000236816" }, { "id": "NCBI_Gene:653436" }, { "pages": [ "gene/references" ], "id": "RGD:4144668" }, { "pages": [ "gene" ], "id": "HGNC:31980" }, { "id": "RGD:4144668" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD20A8P", "geneSynopsis": "INTERACTS WITH 4,4'-sulfonyldiphenol; benzo[a]pyrene; cadmium atom", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 20 family member A8, pseudogene", "basicGeneticEntity": { "synonyms": [ "ANKRD20B", "DKFZp686H1631" ], "secondaryIds": [ "RGD:1351764" ], "genomeLocations": [ { "strand": "-", "endPosition": 94857282, "chromosome": "2", "assembly": "GRCh38", "startPosition": 94760928 } ], "primaryId": "HGNC:23666", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229089" }, { "id": "NCBI_Gene:729171" }, { "id": "PANTHER:PTHR24147" }, { "id": "UniProtKB:Q5CZ79" }, { "pages": [ "gene/references" ], "id": "RGD:1351764" }, { "pages": [ "gene" ], "id": "HGNC:23666" }, { "id": "RGD:1351764" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD20A9P", "geneSynopsis": "INTERACTS WITH aflatoxin B1; benzo[a]pyrene; cadmium dichloride", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 20 family member A9, pseudogene", "basicGeneticEntity": { "secondaryIds": [ "RGD:5133096" ], "genomeLocations": [ { "strand": "-", "endPosition": 18871967, "chromosome": "13", "assembly": "GRCh38", "startPosition": 18811143 } ], "primaryId": "HGNC:42023", "crossReferences": [ { "id": "ENSEMBL:ENSG00000206192" }, { "id": "NCBI_Gene:284232" }, { "pages": [ "gene/references" ], "id": "RGD:5133096" }, { "pages": [ "gene" ], "id": "HGNC:42023" }, { "id": "RGD:5133096" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD22", "geneSynopsis": "INVOLVED IN calcium ion import (ortholog); cell population proliferation (ortholog); immune response (ortholog); INTERACTS WITH 17beta-estradiol; 2,6-dimethoxyphenol; all-trans-retinoic acid", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 22", "basicGeneticEntity": { "synonyms": [ "MGC22805", "ankyrin repeat domain-containing protein 22" ], "secondaryIds": [ "RGD:1317302" ], "genomeLocations": [ { "strand": "-", "endPosition": 88851844, "chromosome": "10", "assembly": "GRCh38", "startPosition": 88819896 } ], "primaryId": "HGNC:28321", "crossReferences": [ { "id": "ENSEMBL:ENSG00000152766" }, { "id": "NCBI_Gene:118932" }, { "id": "PANTHER:PTHR47276" }, { "id": "UniProtKB:Q5VYY1" }, { "pages": [ "gene/references" ], "id": "RGD:1317302" }, { "pages": [ "gene" ], "id": "HGNC:28321" }, { "id": "RGD:1317302" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD23", "geneSynopsis": "This gene is a member of the muscle ankyrin repeat protein (MARP) family and encodes a protein with four tandem ankyrin-like repeats. The protein is localized to the nucleus, functioning as a transcriptional regulator. Expression of this protein is induced during recovery following starvation. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 23", "basicGeneticEntity": { "synonyms": [ "DARP", "FLJ32449", "MARP3", "MGC129593", "ankyrin repeat domain-containing protein 23", "diabetes related ankyrin repeat protein", "diabetes-related ankyrin repeat protein", "muscle ankyrin repeat protein 3" ], "secondaryIds": [ "RGD:1321281" ], "genomeLocations": [ { "strand": "-", "endPosition": 96857934, "chromosome": "2", "assembly": "GRCh38", "startPosition": 96824526 } ], "primaryId": "HGNC:24470", "crossReferences": [ { "id": "ENSEMBL:ENSG00000163126" }, { "id": "NCBI_Gene:200539" }, { "id": "PANTHER:PTHR24193" }, { "id": "UniProtKB:Q86SG2" }, { "pages": [ "gene/references" ], "id": "RGD:1321281" }, { "pages": [ "gene" ], "id": "HGNC:24470" }, { "id": "RGD:1321281" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD24", "geneSynopsis": "Predicted to enable actin binding activity. Predicted to be involved in auditory receptor cell stereocilium organization and sensory perception of sound. Predicted to be located in plasma membrane. Predicted to be part of stereocilium. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 24", "basicGeneticEntity": { "synonyms": [ "KIAA1981", "ankyrin repeat domain-containing protein 24" ], "secondaryIds": [ "RGD:1322819" ], "genomeLocations": [ { "strand": "+", "endPosition": 4224818, "chromosome": "19", "assembly": "GRCh38", "startPosition": 4182630 } ], "primaryId": "HGNC:29424", "crossReferences": [ { "id": "ENSEMBL:ENSG00000089847" }, { "id": "NCBI_Gene:170961" }, { "id": "PANTHER:PTHR24129" }, { "id": "UniProtKB:Q8TF21" }, { "pages": [ "gene/references" ], "id": "RGD:1322819" }, { "pages": [ "gene" ], "id": "HGNC:29424" }, { "id": "RGD:1322819" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD26", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 26", "basicGeneticEntity": { "synonyms": [ "GNS/ANKRD26/NCKAP1L fusion", "KIAA1074", "MGC163325", "THC2", "ankyrin repeat domain containing 26", "ankyrin repeat domain-containing protein 26", "bA145E8.1", "thrombocytopenia 2 (autosomal dominant)" ], "secondaryIds": [ "RGD:1314711" ], "genomeLocations": [ { "strand": "-", "endPosition": 27100517, "chromosome": "10", "assembly": "GRCh38", "startPosition": 26947582 } ], "primaryId": "HGNC:29186", "crossReferences": [ { "id": "ENSEMBL:ENSG00000107890" }, { "id": "NCBI_Gene:22852" }, { "id": "PANTHER:PTHR24147" }, { "id": "UniProtKB:Q9UPS8" }, { "pages": [ "gene/references" ], "id": "RGD:1314711" }, { "pages": [ "gene" ], "id": "HGNC:29186" }, { "id": "RGD:1314711" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD26P1", "geneSynopsis": "INTERACTS WITH aflatoxin B1; aristolochic acid A; benzo[a]pyrene", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 26 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "DKFZp781D1722", "FLJ43980", "MGC87661" ], "secondaryIds": [ "RGD:1602441" ], "genomeLocations": [ { "strand": "-", "endPosition": 46569097, "chromosome": "16", "assembly": "GRCh38", "startPosition": 46469337 } ], "primaryId": "HGNC:32955", "crossReferences": [ { "id": "ENSEMBL:ENSG00000261239" }, { "id": "NCBI_Gene:124149" }, { "id": "PANTHER:PTHR24147" }, { "id": "UniProtKB:Q6NSI1" }, { "pages": [ "gene/references" ], "id": "RGD:1602441" }, { "pages": [ "gene" ], "id": "HGNC:32955" }, { "id": "RGD:1602441" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD26P2", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 26 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "KIAA1074" ], "secondaryIds": [ "RGD:5129398" ], "genomeLocations": [ { "strand": "-", "endPosition": 38936204, "chromosome": "13", "assembly": "GRCh38", "startPosition": 38909228 } ], "primaryId": "HGNC:39687", "crossReferences": [ { "id": "ENSEMBL:ENSG00000235550" }, { "id": "NCBI_Gene:646929" }, { "pages": [ "gene/references" ], "id": "RGD:5129398" }, { "pages": [ "gene" ], "id": "HGNC:39687" }, { "id": "RGD:5129398" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD26P3", "geneSynopsis": "INTERACTS WITH aflatoxin B1; benzo[a]pyrene; lipopolysaccharide", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 26 pseudogene 3", "basicGeneticEntity": { "synonyms": [ "KIAA1074", "LINC00414" ], "secondaryIds": [ "RGD:5129292" ], "genomeLocations": [ { "strand": "-", "endPosition": 19345084, "chromosome": "13", "assembly": "GRCh38", "startPosition": 19262797 } ], "primaryId": "HGNC:39689", "crossReferences": [ { "id": "ENSEMBL:ENSG00000293699" }, { "id": "ENSEMBL:ENSG00000237636" }, { "id": "NCBI_Gene:100101938" }, { "pages": [ "gene/references" ], "id": "RGD:5129292" }, { "pages": [ "gene" ], "id": "HGNC:39689" }, { "id": "RGD:5129292" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD26P4", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 26 pseudogene 4", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481446" ], "genomeLocations": [ { "strand": "+", "endPosition": 31312928, "chromosome": "13", "assembly": "GRCh38", "startPosition": 31311285 } ], "primaryId": "HGNC:39690", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229427" }, { "id": "NCBI_Gene:100873882" }, { "pages": [ "gene/references" ], "id": "RGD:6481446" }, { "pages": [ "gene" ], "id": "HGNC:39690" }, { "id": "RGD:6481446" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD27", "geneSynopsis": "Enables guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in endocytic recycling and negative regulation of SNARE complex assembly. Acts upstream of or within early endosome to late endosome transport. Located in several cellular components, including cytosol; endosome; and lysosome. Implicated in eosinophilic esophagitis. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 27", "basicGeneticEntity": { "synonyms": [ "DKFZP434L0718", "FLJ00040", "PP12899", "VARP", "VPS9 domain-containing protein", "VPS9-ankyrin-repeat protein", "Vps9 domain and ankyrin-repeat-containing protein", "ankyrin repeat domain 27 (VPS9 domain)", "ankyrin repeat domain-containing protein 27" ], "secondaryIds": [ "RGD:1316102" ], "genomeLocations": [ { "strand": "-", "endPosition": 32676597, "chromosome": "19", "assembly": "GRCh38", "startPosition": 32597000 } ], "primaryId": "HGNC:25310", "crossReferences": [ { "id": "ENSEMBL:ENSG00000105186" }, { "id": "NCBI_Gene:84079" }, { "id": "PANTHER:PTHR24170" }, { "id": "UniProtKB:Q96NW4" }, { "pages": [ "gene/references" ], "id": "RGD:1316102" }, { "pages": [ "gene" ], "id": "HGNC:25310" }, { "id": "RGD:1316102" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD27-AS1", "soTermId": "SO:0001263", "name": "ANKRD27 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:617301380" ], "primaryId": "HGNC:58574", "crossReferences": [ { "id": "NCBI_Gene:142592842" }, { "pages": [ "gene/references" ], "id": "RGD:617301380" }, { "pages": [ "gene" ], "id": "HGNC:58574" }, { "id": "RGD:617301380" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD28", "geneSynopsis": "Predicted to be located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 28", "basicGeneticEntity": { "synonyms": [ "CFAP79", "FAP79", "KIAA0379", "PITK", "PP6-ARS-A", "PPP1R65", "ankyrin repeat domain-containing protein 28", "phosphatase interactor targeting K protein", "phosphatase interactor targeting protein hnRNP K", "protein phosphatase 1, regulatory subunit 65", "protein phosphatase 6 ankyrin repeat subunit A", "serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A", "serine/threonine-protein phosphatase 6 regulatory subunit ARS-A" ], "secondaryIds": [ "RGD:1343361" ], "genomeLocations": [ { "strand": "-", "endPosition": 15859814, "chromosome": "3", "assembly": "GRCh38", "startPosition": 15667236 } ], "primaryId": "HGNC:29024", "crossReferences": [ { "id": "ENSEMBL:ENSG00000206560" }, { "id": "NCBI_Gene:23243" }, { "id": "PANTHER:PTHR24173" }, { "id": "UniProtKB:O15084" }, { "pages": [ "gene/references" ], "id": "RGD:1343361" }, { "pages": [ "gene" ], "id": "HGNC:29024" }, { "id": "RGD:1343361" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD29", "geneSynopsis": "Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 29", "basicGeneticEntity": { "synonyms": [ "FLJ25053", "ankyrin repeat domain-containing protein 29" ], "secondaryIds": [ "RGD:1317259" ], "genomeLocations": [ { "strand": "-", "endPosition": 23663088, "chromosome": "18", "assembly": "GRCh38", "startPosition": 23598926 } ], "primaryId": "HGNC:27110", "crossReferences": [ { "id": "ENSEMBL:ENSG00000154065" }, { "id": "NCBI_Gene:147463" }, { "id": "PANTHER:PTHR24166" }, { "id": "UniProtKB:Q8N6D5" }, { "pages": [ "gene/references" ], "id": "RGD:1317259" }, { "pages": [ "gene" ], "id": "HGNC:27110" }, { "id": "RGD:1317259" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD30A", "geneSynopsis": "This gene encodes a DNA-binding transcription factor that is uniquely expressed in mammary epithelium and the testis. Altered expression levels have been associated with breast cancer progression. [provided by RefSeq, Nov 2016]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 30A", "basicGeneticEntity": { "synonyms": [ "NY-BR-1", "RP11-20F24.1", "ankyrin repeat domain-containing protein 30A", "breast cancer antigen NY-BR-1", "serologically defined breast cancer antigen NY-BR-1" ], "secondaryIds": [ "RGD:1350593" ], "genomeLocations": [ { "strand": "+", "endPosition": 37265894, "chromosome": "10", "assembly": "GRCh38", "startPosition": 37125598 } ], "primaryId": "HGNC:17234", "crossReferences": [ { "id": "ENSEMBL:ENSG00000148513" }, { "id": "NCBI_Gene:91074" }, { "id": "PANTHER:PTHR24147" }, { "id": "UniProtKB:Q9BXX3" }, { "pages": [ "gene/references" ], "id": "RGD:1350593" }, { "pages": [ "gene" ], "id": "HGNC:17234" }, { "id": "RGD:1350593" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD30B", "geneSynopsis": "ASSOCIATED WITH Tooth agenesis; tooth agenesis; INTERACTS WITH 2-methylcholine; 3-methylcholanthrene; 5-aza-2'-deoxycytidine", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 30B", "basicGeneticEntity": { "synonyms": [ "NY-BR-1.1", "ankyrin repeat domain-containing protein 30B", "breast cancer antigen NY-BR-1.1", "serologically defined breast cancer antigen NY-BR-1.1" ], "secondaryIds": [ "RGD:1354207" ], "genomeLocations": [ { "strand": "+", "endPosition": 14941135, "chromosome": "18", "assembly": "GRCh38", "startPosition": 14728272 } ], "primaryId": "HGNC:24165", "crossReferences": [ { "id": "ENSEMBL:ENSG00000180777" }, { "id": "NCBI_Gene:374860" }, { "id": "PANTHER:PTHR24147" }, { "id": "UniProtKB:Q9BXX2" }, { "pages": [ "gene/references" ], "id": "RGD:1354207" }, { "pages": [ "gene" ], "id": "HGNC:24165" }, { "id": "RGD:1354207" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD30BL", "geneSynopsis": "INTERACTS WITH aflatoxin B1; benzo[a]pyrene; bisphenol A", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 30B like", "basicGeneticEntity": { "synonyms": [ "ANKRD30BP3", "NCRNA00164", "ankyrin repeat domain 30B pseudogene 3", "ankyrin repeat domain 30B-like", "putative ankyrin repeat domain-containing protein 30B-like" ], "secondaryIds": [ "RGD:2303829" ], "genomeLocations": [ { "strand": "-", "endPosition": 132258033, "chromosome": "2", "assembly": "GRCh38", "startPosition": 132147591 } ], "primaryId": "HGNC:35167", "crossReferences": [ { "id": "ENSEMBL:ENSG00000163046" }, { "id": "NCBI_Gene:554226" }, { "id": "PANTHER:PTHR24147" }, { "id": "UniProtKB:A7E2S9" }, { "pages": [ "gene/references" ], "id": "RGD:2303829" }, { "pages": [ "gene" ], "id": "HGNC:35167" }, { "id": "RGD:2303829" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD30BP1", "soTermId": "SO:0000336", "name": "ANKRD30B pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ANKRD30BP", "C21orf110", "PRED4", "ankyrin repeat domain 30B pseudogene 1" ], "secondaryIds": [ "RGD:1350728" ], "genomeLocations": [ { "strand": "-", "endPosition": 13427775, "chromosome": "21", "assembly": "GRCh38", "startPosition": 13384241 } ], "primaryId": "HGNC:19722", "crossReferences": [ { "id": "ENSEMBL:ENSG00000175302" }, { "id": "NCBI_Gene:642460" }, { "pages": [ "gene/references" ], "id": "RGD:1350728" }, { "pages": [ "gene" ], "id": "HGNC:19722" }, { "id": "RGD:1350728" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD30BP2", "geneSynopsis": "INTERACTS WITH aflatoxin B1; benzene-1,2,4-triol; cadmium atom", "soTermId": "SO:0000336", "name": "ANKRD30B pseudogene 2", "basicGeneticEntity": { "synonyms": [ "C21orf99", "CT85", "CTSP-1", "CTSP1", "ankyrin repeat domain 30B pseudogene 2" ], "secondaryIds": [ "RGD:1344415" ], "genomeLocations": [ { "strand": "+", "endPosition": 13118251, "chromosome": "21", "assembly": "GRCh38", "startPosition": 13038166 } ], "primaryId": "HGNC:16620", "crossReferences": [ { "id": "ENSEMBL:ENSG00000224309" }, { "id": "NCBI_Gene:149992" }, { "pages": [ "gene/references" ], "id": "RGD:1344415" }, { "pages": [ "gene" ], "id": "HGNC:16620" }, { "id": "RGD:1344415" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD30BP3", "geneSynopsis": "INTERACTS WITH paracetamol", "soTermId": "SO:0000336", "name": "ANKRD30B pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ankyrin repeat domain 30B pseudogene 3" ], "secondaryIds": [ "RGD:7206963" ], "genomeLocations": [ { "strand": "+", "endPosition": 45186041, "chromosome": "10", "assembly": "GRCh38", "startPosition": 45154662 } ], "primaryId": "HGNC:27873", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230501" }, { "id": "NCBI_Gene:338579" }, { "pages": [ "gene/references" ], "id": "RGD:7206963" }, { "pages": [ "gene" ], "id": "HGNC:27873" }, { "id": "RGD:7206963" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD30BP4", "soTermId": "SO:0000336", "name": "ANKRD30B pseudogene 4", "basicGeneticEntity": { "synonyms": [ "AP005901.1", "LOC644669", "ankyrin repeat domain 30A (ANKRD30A) pseudogene", "ankyrin repeat domain 30B pseudogene" ], "secondaryIds": [ "RGD:16552212" ], "genomeLocations": [ { "strand": "-", "endPosition": 15330282, "chromosome": "18", "assembly": "GRCh38", "startPosition": 15307663 } ], "primaryId": "HGNC:59075", "crossReferences": [ { "id": "ENSEMBL:ENSG00000215512" }, { "id": "ENSEMBL:ENSG00000290522" }, { "id": "NCBI_Gene:644669" }, { "pages": [ "gene/references" ], "id": "RGD:16552212" }, { "pages": [ "gene" ], "id": "HGNC:59075" }, { "id": "RGD:16552212" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD30BP5", "soTermId": "SO:0000336", "name": "ANKRD30B pseudogene 5", "basicGeneticEntity": { "synonyms": [ "LOC100132154", "ankyrin repeat domain 30B pseudogene" ], "secondaryIds": [ "RGD:38676029" ], "genomeLocations": [ { "strand": "-", "endPosition": 64889046, "chromosome": "9", "assembly": "GRCh38", "startPosition": 64786401 } ], "primaryId": "HGNC:59076", "crossReferences": [ { "id": "ENSEMBL:ENSG00000309584" }, { "id": "NCBI_Gene:100132154" }, { "pages": [ "gene/references" ], "id": "RGD:38676029" }, { "pages": [ "gene" ], "id": "HGNC:59076" }, { "id": "RGD:38676029" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD30BP6", "soTermId": "SO:0000336", "name": "ANKRD30B pseudogene 6", "basicGeneticEntity": { "synonyms": [ "LOC102724148", "putative ankyrin repeat domain-containing protein 30B-like" ], "secondaryIds": [ "RGD:38656899" ], "genomeLocations": [ { "strand": "+", "endPosition": 18423420, "chromosome": "13", "assembly": "GRCh38", "startPosition": 18408127 } ], "primaryId": "HGNC:59077", "crossReferences": [ { "id": "NCBI_Gene:102724148" }, { "pages": [ "gene/references" ], "id": "RGD:38656899" }, { "pages": [ "gene" ], "id": "HGNC:59077" }, { "id": "RGD:38656899" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD31", "geneSynopsis": "This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Mutations in this gene are associated with a Rett syndrome (RTT)-like phenotype. [provided by RefSeq, Apr 2017]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 31", "basicGeneticEntity": { "synonyms": [ "FLJ40191", "ankyrin repeat domain-containing protein 31", "putative ankyrin repeat domain-containing protein 31" ], "secondaryIds": [ "RGD:1354086" ], "genomeLocations": [ { "strand": "-", "endPosition": 75236911, "chromosome": "5", "assembly": "GRCh38", "startPosition": 75068275 } ], "primaryId": "HGNC:26853", "crossReferences": [ { "id": "ENSEMBL:ENSG00000145700" }, { "id": "NCBI_Gene:256006" }, { "id": "PANTHER:PTHR24176" }, { "id": "UniProtKB:Q8N7Z5" }, { "pages": [ "gene/references" ], "id": "RGD:1354086" }, { "pages": [ "gene" ], "id": "HGNC:26853" }, { "id": "RGD:1354086" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD31-DT", "soTermId": "SO:0001263", "name": "ANKRD31 divergent transcript", "basicGeneticEntity": { "synonyms": [ "LOC124901006", "uncharacterized LOC124901006" ], "secondaryIds": [ "RGD:151671128" ], "genomeLocations": [ { "strand": "+", "endPosition": 75240888, "chromosome": "5", "assembly": "GRCh38", "startPosition": 75237038 } ], "primaryId": "HGNC:59070", "crossReferences": [ { "id": "ENSEMBL:ENSG00000299800" }, { "id": "NCBI_Gene:124901006" }, { "pages": [ "gene/references" ], "id": "RGD:151671128" }, { "pages": [ "gene" ], "id": "HGNC:59070" }, { "id": "RGD:151671128" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD33", "geneSynopsis": "Predicted to act upstream of or within skeletal muscle cell differentiation. Predicted to be located in cytosol and nucleus. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 33", "basicGeneticEntity": { "synonyms": [ "C12orf7", "DKFZp686O1689", "PANKY", "ankyrin repeat domain-containing protein 33" ], "secondaryIds": [ "RGD:1344617" ], "genomeLocations": [ { "strand": "+", "endPosition": 51891727, "chromosome": "12", "assembly": "GRCh38", "startPosition": 51888009 } ], "primaryId": "HGNC:13788", "crossReferences": [ { "id": "ENSEMBL:ENSG00000167612" }, { "id": "NCBI_Gene:341405" }, { "id": "PANTHER:PTHR24173" }, { "id": "UniProtKB:Q7Z3H0" }, { "pages": [ "gene/references" ], "id": "RGD:1344617" }, { "pages": [ "gene" ], "id": "HGNC:13788" }, { "id": "RGD:1344617" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD33B", "geneSynopsis": "INTERACTS WITH (-)-demecolcine; 17beta-estradiol; 4,4'-sulfonyldiphenol", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 33B", "basicGeneticEntity": { "synonyms": [ "Ankyrin repeat domain-containing protein LOC651746", "RP11-215G15.5", "ankyrin repeat domain-containing protein 33B" ], "secondaryIds": [ "RGD:2307384" ], "genomeLocations": [ { "strand": "+", "endPosition": 10657816, "chromosome": "5", "assembly": "GRCh38", "startPosition": 10564070 } ], "primaryId": "HGNC:35240", "crossReferences": [ { "id": "ENSEMBL:ENSG00000164236" }, { "id": "NCBI_Gene:651746" }, { "id": "PANTHER:PTHR24173" }, { "id": "UniProtKB:A6NCL7" }, { "pages": [ "gene/references" ], "id": "RGD:2307384" }, { "pages": [ "gene" ], "id": "HGNC:35240" }, { "id": "RGD:2307384" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD33B-AS1", "soTermId": "SO:0001263", "name": "ANKRD33B antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481081" ], "genomeLocations": [ { "strand": "-", "endPosition": 10628225, "chromosome": "5", "assembly": "GRCh38", "startPosition": 10627260 } ], "primaryId": "HGNC:41298", "crossReferences": [ { "id": "ENSEMBL:ENSG00000250106" }, { "id": "NCBI_Gene:100874247" }, { "pages": [ "gene/references" ], "id": "RGD:6481081" }, { "pages": [ "gene" ], "id": "HGNC:41298" }, { "id": "RGD:6481081" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD33BP1", "geneSynopsis": "INTERACTS WITH okadaic acid", "soTermId": "SO:0000336", "name": "ANKRD33B pseudogene 1", "basicGeneticEntity": { "synonyms": [ "LOC100419920", "ankyrin repeat domain 33B pseudogene" ], "secondaryIds": [ "RGD:38626182" ], "genomeLocations": [ { "strand": "+", "endPosition": 95527379, "chromosome": "2", "assembly": "GRCh38", "startPosition": 95525215 } ], "primaryId": "HGNC:56293", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229689" }, { "id": "NCBI_Gene:100419920" }, { "pages": [ "gene/references" ], "id": "RGD:38626182" }, { "pages": [ "gene" ], "id": "HGNC:56293" }, { "id": "RGD:38626182" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD33BP10", "soTermId": "SO:0000336", "name": "ANKRD33B pseudogene 10", "basicGeneticEntity": { "synonyms": [ "LOC100420022", "ankyrin repeat domain 33B pseudogene" ], "secondaryIds": [ "RGD:38667731" ], "genomeLocations": [ { "strand": "-", "endPosition": 90052834, "chromosome": "11", "assembly": "GRCh38", "startPosition": 90052307 } ], "primaryId": "HGNC:56302", "crossReferences": [ { "id": "NCBI_Gene:100420022" }, { "pages": [ "gene/references" ], "id": "RGD:38667731" }, { "pages": [ "gene" ], "id": "HGNC:56302" }, { "id": "RGD:38667731" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD33BP2", "soTermId": "SO:0000336", "name": "ANKRD33B pseudogene 2", "basicGeneticEntity": { "synonyms": [ "LOC100129384", "ankyrin repeat domain-containing protein 33B-like" ], "secondaryIds": [ "RGD:38618717" ], "genomeLocations": [ { "strand": "-", "endPosition": 48901263, "chromosome": "11", "assembly": "GRCh38", "startPosition": 48900218 } ], "primaryId": "HGNC:56294", "crossReferences": [ { "id": "NCBI_Gene:100129384" }, { "pages": [ "gene/references" ], "id": "RGD:38618717" }, { "pages": [ "gene" ], "id": "HGNC:56294" }, { "id": "RGD:38618717" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD33BP3", "soTermId": "SO:0000336", "name": "ANKRD33B pseudogene 3", "basicGeneticEntity": { "synonyms": [ "LOC100507606", "ankyrin repeat domain-containing protein 33B-like" ], "secondaryIds": [ "RGD:38669394" ], "genomeLocations": [ { "strand": "-", "endPosition": 49050159, "chromosome": "11", "assembly": "GRCh38", "startPosition": 49048268 } ], "primaryId": "HGNC:56295", "crossReferences": [ { "id": "NCBI_Gene:100507606" }, { "pages": [ "gene/references" ], "id": "RGD:38669394" }, { "pages": [ "gene" ], "id": "HGNC:56295" }, { "id": "RGD:38669394" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD33BP4", "soTermId": "SO:0000336", "name": "ANKRD33B pseudogene 4", "basicGeneticEntity": { "synonyms": [ "LOC100652976", "ankyrin repeat domain-containing protein 33B-like" ], "secondaryIds": [ "RGD:38613571" ], "genomeLocations": [ { "strand": "+", "endPosition": 49852499, "chromosome": "11", "assembly": "GRCh38", 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"synonyms": [ "LOC100507561", "ankyrin repeat domain-containing protein 33B-like" ], "secondaryIds": [ "RGD:38626692" ], "genomeLocations": [ { "strand": "-", "endPosition": 55874584, "chromosome": "11", "assembly": "GRCh38", "startPosition": 55872381 } ], "primaryId": "HGNC:56298", "crossReferences": [ { "id": "NCBI_Gene:100507561" }, { "pages": [ "gene/references" ], "id": "RGD:38626692" }, { "pages": [ "gene" ], "id": "HGNC:56298" }, { "id": "RGD:38626692" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD33BP7", "soTermId": "SO:0000336", "name": "ANKRD33B pseudogene 7", "basicGeneticEntity": { "synonyms": [ "LOC100420024", "ankyrin repeat domain 33B pseudogene" ], "secondaryIds": [ "RGD:38663157" ], "genomeLocations": [ { "strand": "+", "endPosition": 89787370, "chromosome": "11", "assembly": "GRCh38", "startPosition": 89786848 } ], "primaryId": "HGNC:56299", "crossReferences": [ { "id": "NCBI_Gene:100420024" }, { "pages": [ "gene/references" ], "id": "RGD:38663157" }, { "pages": [ "gene" ], "id": "HGNC:56299" }, { "id": "RGD:38663157" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD33BP8", "soTermId": "SO:0000336", "name": "ANKRD33B pseudogene 8", "basicGeneticEntity": { "synonyms": [ "LOC100420021", "ankyrin repeat domain 33B pseudogene" ], "secondaryIds": [ "RGD:38603110" ], "genomeLocations": [ { "strand": "-", "endPosition": 89865728, "chromosome": "11", "assembly": "GRCh38", "startPosition": 89863848 } ], "primaryId": "HGNC:56300", "crossReferences": [ { "id": "ENSEMBL:ENSG00000254558" }, { "id": "NCBI_Gene:100420021" }, { "pages": [ "gene/references" ], "id": "RGD:38603110" }, { "pages": [ "gene" ], "id": "HGNC:56300" }, { "id": "RGD:38603110" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD33BP9", "soTermId": "SO:0000336", "name": "ANKRD33B pseudogene 9", "basicGeneticEntity": { "synonyms": [ "LOC100420025", "ankyrin repeat domain 33B pseudogene" ], "secondaryIds": [ "RGD:38646263" ], "genomeLocations": [ { "strand": "+", "endPosition": 89980661, "chromosome": "11", "assembly": "GRCh38", "startPosition": 89978540 } ], "primaryId": "HGNC:56301", "crossReferences": [ { "id": "ENSEMBL:ENSG00000255305" }, { "id": "NCBI_Gene:100420025" }, { "pages": [ "gene/references" ], "id": "RGD:38646263" }, { "pages": [ "gene" ], "id": "HGNC:56301" }, { "id": "RGD:38646263" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD34A", "geneSynopsis": "Predicted to be active in pi-body. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 34A", "basicGeneticEntity": { "synonyms": [ "ANKRD34", "DKFZp761F202", "ankyrin repeat domain 34", "ankyrin repeat domain-containing protein 34A" ], "secondaryIds": [ "RGD:1347090" ], "genomeLocations": [ { "strand": "-", "endPosition": 145964575, "chromosome": "1", "assembly": "GRCh38", "startPosition": 145959441 } ], "primaryId": "HGNC:27639", "crossReferences": [ { "id": "ENSEMBL:ENSG00000272031" }, { "id": "NCBI_Gene:284615" }, { "id": "PANTHER:PTHR24156" }, { "id": "UniProtKB:Q69YU3" }, { "pages": [ "gene/references" ], "id": "RGD:1347090" }, { "pages": [ "gene" ], "id": "HGNC:27639" }, { "id": "RGD:1347090" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD34B", "geneSynopsis": "Predicted to be located in cytoplasm and nucleus. Predicted to be active in pi-body. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 34B", "basicGeneticEntity": { "synonyms": [ "DP58", "ankyrin repeat domain-containing protein 34B", "cytosolic phosphoprotein DP58", "dendritic phosphoprotein 58 kDa" ], "secondaryIds": [ "RGD:1604706" ], "genomeLocations": [ { "strand": "-", "endPosition": 80570479, "chromosome": "5", "assembly": "GRCh38", "startPosition": 80556755 } ], "primaryId": "HGNC:33736", "crossReferences": [ { "id": "ENSEMBL:ENSG00000189127" }, { "id": "NCBI_Gene:340120" }, { "id": "PANTHER:PTHR24156" }, { "id": "UniProtKB:A5PLL1" }, { "pages": [ "gene/references" ], "id": "RGD:1604706" }, { "pages": [ "gene" ], "id": "HGNC:33736" }, { "id": "RGD:1604706" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD34C", "geneSynopsis": "Predicted to be active in pi-body. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 34C", "basicGeneticEntity": { "synonyms": [ "FLJ33346", "FLJ45093", "ankyrin repeat domain-containing protein 34C" ], "secondaryIds": [ "RGD:2291762" ], "genomeLocations": [ { "strand": "+", "endPosition": 79298239, "chromosome": "15", "assembly": "GRCh38", "startPosition": 79282722 } ], "primaryId": "HGNC:33888", "crossReferences": [ { "id": "ENSEMBL:ENSG00000235711" }, { "id": "NCBI_Gene:390616" }, { "id": "PANTHER:PTHR24156" }, { "id": "UniProtKB:P0C6C1" }, { "pages": [ "gene/references" ], "id": "RGD:2291762" }, { "pages": [ "gene" ], "id": "HGNC:33888" }, { "id": "RGD:2291762" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD34C-AS1", "geneSynopsis": "INTERACTS WITH benzo[a]pyrene; fulvestrant", "soTermId": "SO:0001263", "name": "ANKRD34C antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:9681227" ], "genomeLocations": [ { "strand": "-", "endPosition": 79283967, "chromosome": "15", "assembly": "GRCh38", "startPosition": 79123546 } ], "primaryId": "HGNC:48618", "crossReferences": [ { "id": "ENSEMBL:ENSG00000259234" }, { "id": "NCBI_Gene:729911" }, { "pages": [ "gene/references" ], "id": "RGD:9681227" }, { "pages": [ "gene" ], "id": "HGNC:48618" }, { "id": "RGD:9681227" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD35", "geneSynopsis": "Predicted to enable actin binding activity. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 35", "basicGeneticEntity": { "synonyms": [ "FLJ25124", "MGC126667", "MGC126669", "ankyrin repeat domain-containing protein 35" ], "secondaryIds": [ "RGD:1352290" ], "genomeLocations": [ { "strand": "-", "endPosition": 145886088, "chromosome": "1", "assembly": "GRCh38", "startPosition": 145866560 } ], "primaryId": "HGNC:26323", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198483" }, { "id": "NCBI_Gene:148741" }, { "id": "PANTHER:PTHR24129" }, { "id": "UniProtKB:Q8N283" }, { "pages": [ "gene/references" ], "id": "RGD:1352290" }, { "pages": [ "gene" ], "id": "HGNC:26323" }, { "id": "RGD:1352290" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD35-DT", "soTermId": "SO:0001263", "name": "ANKRD35 divergent transcript", "basicGeneticEntity": { "synonyms": [ "LOC107985593", "uncharacterized LOC107985593" ], "secondaryIds": [ "RGD:38614037" ], "genomeLocations": [ { "strand": "+", "endPosition": 145888481, "chromosome": "1", "assembly": "GRCh38", "startPosition": 145886180 } ], "primaryId": "HGNC:58407", "crossReferences": [ { "id": "ENSEMBL:ENSG00000244619" }, { "id": "NCBI_Gene:107985593" }, { "pages": [ "gene/references" ], "id": "RGD:38614037" }, { "pages": [ "gene" ], "id": "HGNC:58407" }, { "id": "RGD:38614037" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD36", "geneSynopsis": "Predicted to enable ion channel inhibitor activity. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 36", "basicGeneticEntity": { "synonyms": [ "FLJ33607", "KIAA1641", "MGC167812", "UNQ2430", "ankyrin repeat domain-containing protein 36", "ankyrin repeat domain-containing protein 36A", "ankyrin-related" ], "secondaryIds": [ "RGD:1342961" ], "genomeLocations": [ { "strand": "+", "endPosition": 97264521, "chromosome": "2", "assembly": "GRCh38", "startPosition": 97113153 } ], "primaryId": "HGNC:24079", "crossReferences": [ { "id": "ENSEMBL:ENSG00000291582" }, { "id": "ENSEMBL:ENSG00000135976" }, { "id": "NCBI_Gene:375248" }, { "id": "PANTHER:PTHR24147" }, { "id": "UniProtKB:A6QL64" }, { "pages": [ "gene/references" ], "id": "RGD:1342961" }, { "pages": [ "gene" ], "id": "HGNC:24079" }, { "id": "RGD:1342961" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD36B", "geneSynopsis": "Enables identical protein binding activity. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 36B", "basicGeneticEntity": { "synonyms": [ "CLL-associated antigen KW-1", "FLJ21281", "FLJ90089", "KIAA1641", "MGC149864", "MGC149865", "MGC167812", "ankyrin repeat domain-containing protein 36B", "melanoma-associated antigen" ], "secondaryIds": [ "RGD:1352925" ], "genomeLocations": [ { "strand": "-", "endPosition": 97589877, "chromosome": "2", "assembly": "GRCh38", "startPosition": 97492663 } ], "primaryId": "HGNC:29333", "crossReferences": [ { "id": "ENSEMBL:ENSG00000291600" }, { "id": "ENSEMBL:ENSG00000196912" }, { "id": "NCBI_Gene:57730" }, { "id": "PANTHER:PTHR24147" }, { "id": "UniProtKB:Q8N2N9" }, { "pages": [ "gene/references" ], "id": "RGD:1352925" }, { "pages": [ "gene" ], "id": "HGNC:29333" }, { "id": "RGD:1352925" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD36BP1", "geneSynopsis": "INTERACTS WITH 17beta-estradiol; 3-isobutyl-1-methyl-7H-xanthine; bisphenol A", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 36B pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ANKRD26L1", "ANKRD36BL1", "MGC12538" ], "secondaryIds": [ "RGD:2303683" ], "genomeLocations": [ { "strand": "-", "endPosition": 168247430, "chromosome": "1", "assembly": "GRCh38", "startPosition": 168245565 } ], "primaryId": "HGNC:28169", "crossReferences": [ { "id": "ENSEMBL:ENSG00000293109" }, { "id": "ENSEMBL:ENSG00000214262" }, { "id": "NCBI_Gene:84832" }, { "id": "PANTHER:PTHR24147" }, { "id": "UniProtKB:Q96IX9" }, { "pages": [ "gene/references" ], "id": "RGD:2303683" }, { "pages": [ "gene" ], "id": "HGNC:28169" }, { "id": "RGD:2303683" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD36BP2", "geneSynopsis": "INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; 4,4'-sulfonyldiphenol; bisphenol A", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 36B pseudogene 2", "basicGeneticEntity": { "synonyms": [ "DKFZp434J1630", "DKFZp686E1246", "DKFZp686O04183", "FLJ40330" ], "secondaryIds": [ "RGD:4144543" ], "genomeLocations": [ { "strand": "+", "endPosition": 88806619, "chromosome": "2", "assembly": "GRCh38", "startPosition": 88765739 } ], "primaryId": "HGNC:33607", "crossReferences": [ { "id": "ENSEMBL:ENSG00000291127" }, { "id": "ENSEMBL:ENSG00000230006" }, { "id": "NCBI_Gene:645784" }, { "pages": [ "gene/references" ], "id": "RGD:4144543" }, { "pages": [ "gene" ], "id": "HGNC:33607" }, { "id": "RGD:4144543" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD36C", "geneSynopsis": "Predicted to enable ion channel inhibitor activity. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 36C", "basicGeneticEntity": { "synonyms": [ "FLJ42107", "HEM1", "ankyrin repeat domain-containing protein 36C", "protein immuno-reactive with anti-PTH polyclonal antibodies" ], "secondaryIds": [ "RGD:1602616" ], "genomeLocations": [ { "strand": "-", "endPosition": 95991831, "chromosome": "2", "assembly": "GRCh38", "startPosition": 95836919 } ], "primaryId": "HGNC:32946", "crossReferences": [ { "id": "ENSEMBL:ENSG00000174501" }, { "id": "NCBI_Gene:400986" }, { "id": "PANTHER:PTHR24147" }, { "id": "UniProtKB:Q5JPF3" }, { "pages": [ "gene/references" ], "id": "RGD:1602616" }, { "pages": [ "gene" ], "id": "HGNC:32946" }, { "id": "RGD:1602616" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD36P1", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 36 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:3378225" ], "genomeLocations": [ { "strand": "+", "endPosition": 26420535, "chromosome": "Y", "assembly": "GRCh38", "startPosition": 26409387 } ], "primaryId": "HGNC:37759", "crossReferences": [ { "id": "ENSEMBL:ENSG00000188399" }, { "id": "NCBI_Gene:100132420" }, { "pages": [ "gene/references" ], "id": "RGD:3378225" }, { "pages": [ "gene" ], "id": "HGNC:37759" }, { "id": "RGD:3378225" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD36P2", "soTermId": "SO:0000336", "name": "ANKRD36 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:401842406" ], "primaryId": "HGNC:56921", "crossReferences": [ { "id": "NCBI_Gene:132542982" }, { "pages": [ "gene/references" ], "id": "RGD:401842406" }, { "pages": [ "gene" ], "id": "HGNC:56921" }, { "id": "RGD:401842406" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD37", "geneSynopsis": "Located in cytosol; mitochondrion; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 37", "basicGeneticEntity": { "synonyms": [ "Lrp2bp", "MGC111507", "ankyrin repeat domain-containing protein 37", "hLrp2bp", "low density lipoprotein receptor-related protein binding protein", "low-density lipoprotein receptor-related protein 2-binding protein" ], "secondaryIds": [ "RGD:1604164" ], "genomeLocations": [ { "strand": "+", "endPosition": 185400723, "chromosome": "4", "assembly": "GRCh38", "startPosition": 185396021 } ], "primaryId": "HGNC:29593", "crossReferences": [ { "id": "ENSEMBL:ENSG00000186352" }, { "id": "NCBI_Gene:353322" }, { "id": "PANTHER:PTHR24201" }, { "id": "UniProtKB:Q7Z713" }, { "pages": [ "gene/references" ], "id": "RGD:1604164" }, { "pages": [ "gene" ], "id": "HGNC:29593" }, { "id": "RGD:1604164" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD39", "geneSynopsis": "INTERACTS WITH (+)-catechin; 2-methylcholine; arsenous acid", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 39", "basicGeneticEntity": { "synonyms": [ "MGC41816", "ankyrin repeat domain-containing protein 39" ], "secondaryIds": [ "RGD:1602717" ], "genomeLocations": [ { "strand": "-", "endPosition": 96858016, "chromosome": "2", "assembly": "GRCh38", "startPosition": 96836611 } ], "primaryId": "HGNC:28640", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213337" }, { "id": "NCBI_Gene:51239" }, { "id": "PANTHER:PTHR24171" }, { "id": "UniProtKB:Q53RE8" }, { "pages": [ "gene/references" ], "id": "RGD:1602717" }, { "pages": [ "gene" ], "id": "HGNC:28640" }, { "id": "RGD:1602717" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD39P1", "soTermId": "SO:0000336", "name": "ANKRD39 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "LOC100124373", "ankyrin repeat domain 39 pseudogene" ], "secondaryIds": [ "RGD:38644497" ], "genomeLocations": [ { "strand": "+", "endPosition": 39354498, "chromosome": "6", "assembly": "GRCh38", "startPosition": 39353845 } ], "primaryId": "HGNC:56783", "crossReferences": [ { "id": "NCBI_Gene:100124373" }, { "pages": [ "gene/references" ], "id": "RGD:38644497" }, { "pages": [ "gene" ], "id": "HGNC:56783" }, { "id": "RGD:38644497" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD40", "geneSynopsis": "INTERACTS WITH all-trans-retinoic acid; arsenous acid; atrazine", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 40", "basicGeneticEntity": { "synonyms": [ "DKFZp451K241", "MGC15396", "ankyrin repeat domain-containing protein 40" ], "secondaryIds": [ "RGD:1602991" ], "genomeLocations": [ { "strand": "-", "endPosition": 50707914, "chromosome": "17", "assembly": "GRCh38", "startPosition": 50693198 } ], "primaryId": "HGNC:28233", "crossReferences": [ { "id": "ENSEMBL:ENSG00000154945" }, { "id": "NCBI_Gene:91369" }, { "id": "PANTHER:PTHR24192" }, { "id": "UniProtKB:Q6AI12" }, { "pages": [ "gene/references" ], "id": "RGD:1602991" }, { "pages": [ "gene" ], "id": "HGNC:28233" }, { "id": "RGD:1602991" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD40CL", "geneSynopsis": "INTERACTS WITH aflatoxin B1; aristolochic acid A; benzo[a]pyrene", "soTermId": "SO:0001217", "name": "ANKRD40 C-terminal like", "basicGeneticEntity": { "synonyms": [ "C17orf73", "FLJ20694", "LINC00483", "long intergenic non-protein coding RNA 483", "putative uncharacterized protein encoded by LINC00483" ], "secondaryIds": [ "RGD:2302584" ], "genomeLocations": [ { "strand": "-", "endPosition": 50767570, "chromosome": "17", "assembly": "GRCh38", "startPosition": 50760971 } ], "primaryId": "HGNC:26080", "crossReferences": [ { "id": "ENSEMBL:ENSG00000167117" }, { "id": "NCBI_Gene:55018" }, { "id": "PANTHER:PTHR24192" }, { "id": "UniProtKB:Q53H64" }, { "pages": [ "gene/references" ], "id": "RGD:2302584" }, { "pages": [ "gene" ], "id": "HGNC:26080" }, { "id": "RGD:2302584" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD42", "geneSynopsis": "Predicted to enable NF-kappaB binding activity and cyclin-dependent protein serine/threonine kinase inhibitor activity. Predicted to act upstream of or within positive regulation of NF-kappaB transcription factor activity and positive regulation of cytokine production involved in inflammatory response. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 42", "basicGeneticEntity": { "synonyms": [ "FLJ37874", "PPP1R79", "SARP", "ankyrin repeat domain-containing protein 42", "several ankyrin repeat protein" ], "secondaryIds": [ "RGD:1605233" ], "genomeLocations": [ { "strand": "+", "endPosition": 83264282, "chromosome": "11", "assembly": "GRCh38", "startPosition": 83193712 } ], "primaryId": "HGNC:26752", "crossReferences": [ { "id": "ENSEMBL:ENSG00000137494" }, { "id": "NCBI_Gene:338699" }, { "id": "PANTHER:PTHR24201" }, { "id": "UniProtKB:Q8N9B4" }, { "pages": [ "gene/references" ], "id": "RGD:1605233" }, { "pages": [ "gene" ], "id": "HGNC:26752" }, { "id": "RGD:1605233" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD42-DT", "soTermId": "SO:0001263", "name": "ANKRD42 divergent transcript", "basicGeneticEntity": { "synonyms": [ "AP000873.1", "AP000873.2", "LOC100506282", "uncharacterized LOC100506282" ], "secondaryIds": [ "RGD:16558011" ], "genomeLocations": [ { "strand": "-", "endPosition": 83193794, "chromosome": "11", "assembly": "GRCh38", "startPosition": 83184003 } ], "primaryId": "HGNC:55590", "crossReferences": [ { "id": "ENSEMBL:ENSG00000247137" }, { "id": "NCBI_Gene:100506282" }, { "pages": [ "gene/references" ], "id": "RGD:16558011" }, { "pages": [ "gene" ], "id": "HGNC:55590" }, { "id": "RGD:16558011" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD44", "geneSynopsis": "ASSOCIATED WITH NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-palmitoylglycerol; aflatoxin B1", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 44", "basicGeneticEntity": { "synonyms": [ "ARSB", "FLJ11570", "LOC105373826", "MGC21968", "MGC70444", "PP6-ARS-B", "ankyrin repeat domain-containing protein 44", "protein phosphatase 6 ankyrin repeat subunit B", "serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B", "serine/threonine-protein phosphatase 6 regulatory subunit ARS-B", "uncharacterized LOC105373826" ], "secondaryIds": [ "RGD:1605602" ], "genomeLocations": [ { "strand": "-", "endPosition": 197311173, "chromosome": "2", "assembly": "GRCh38", "startPosition": 196967014 } ], "primaryId": "HGNC:25259", "crossReferences": [ { "id": "ENSEMBL:ENSG00000065413" }, { "id": "NCBI_Gene:91526" }, { "id": "PANTHER:PTHR24198" }, { "id": "UniProtKB:Q8N8A2" }, { "pages": [ "gene/references" ], "id": "RGD:1605602" }, { "pages": [ "gene" ], "id": "HGNC:25259" }, { "id": "RGD:1605602" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD44-AS1", "geneSynopsis": "INTERACTS WITH diuron", "soTermId": "SO:0001263", "name": "ANKRD44 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:14696756" ], "genomeLocations": [ { "strand": "+", "endPosition": 197201662, "chromosome": "2", "assembly": "GRCh38", "startPosition": 197197888 } ], "primaryId": "HGNC:41090", "crossReferences": [ { "id": "ENSEMBL:ENSG00000231621" }, { "id": "NCBI_Gene:101927596" }, { "pages": [ "gene/references" ], "id": "RGD:14696756" }, { "pages": [ "gene" ], "id": "HGNC:41090" }, { "id": "RGD:14696756" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD44-DT", "soTermId": "SO:0001263", "name": "ANKRD44 divergent transcript", "basicGeneticEntity": { "synonyms": [ "LOC105373824", "uncharacterized LOC105373824" ], "secondaryIds": [ "RGD:38662265" ], "genomeLocations": [ { "strand": "+", "endPosition": 197318880, "chromosome": "2", "assembly": "GRCh38", "startPosition": 197311066 } ], "primaryId": "HGNC:55840", "crossReferences": [ { "id": "NCBI_Gene:105373824" }, { "pages": [ "gene/references" ], "id": "RGD:38662265" }, { "pages": [ "gene" ], "id": "HGNC:55840" }, { "id": "RGD:38662265" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD44-IT1", "geneSynopsis": "INTERACTS WITH antirheumatic drug; copper atom; copper(0)", "soTermId": "SO:0001263", "name": "ANKRD44 intronic transcript 1", "basicGeneticEntity": { "synonyms": [ "AC010746.2" ], "secondaryIds": [ "RGD:6481072" ], "genomeLocations": [ { "strand": "-", "endPosition": 197309012, "chromosome": "2", "assembly": "GRCh38", "startPosition": 197205406 } ], "primaryId": "HGNC:41477", "crossReferences": [ { "id": "ENSEMBL:ENSG00000236977" }, { "id": "NCBI_Gene:101927547" }, { "pages": [ "gene/references" ], "id": "RGD:6481072" }, { "pages": [ "gene" ], "id": "HGNC:41477" }, { "id": "RGD:6481072" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD45", "geneSynopsis": "Involved in cell population proliferation. Located in several cellular components, including centrosome; cleavage furrow; and midbody. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 45", "basicGeneticEntity": { "synonyms": [ "CT117", "FLJ45235", "MGC161631", "MGC161633", "RP3-436N22.4", "ankyrin repeat domain-containing protein 45", "cancer/testis antigen 117" ], "secondaryIds": [ "RGD:1606657" ], "genomeLocations": [ { "strand": "-", "endPosition": 173715185, "chromosome": "1", "assembly": "GRCh38", "startPosition": 173608336 } ], "primaryId": "HGNC:24786", "crossReferences": [ { "id": "ENSEMBL:ENSG00000183831" }, { "id": "NCBI_Gene:339416" }, { "id": "PANTHER:PTHR24201" }, { "id": "UniProtKB:Q5TZF3" }, { "pages": [ "gene/references" ], "id": "RGD:1606657" }, { "pages": [ "gene" ], "id": "HGNC:24786" }, { "id": "RGD:1606657" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD46", "geneSynopsis": "This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 46", "basicGeneticEntity": { "synonyms": [ "ANK-S", "GENX-115279", "ankyrin repeat domain-containing protein 46", "ankyrin repeat small protein" ], "secondaryIds": [ "RGD:1606443" ], "genomeLocations": [ { "strand": "-", "endPosition": 100559784, "chromosome": "8", "assembly": "GRCh38", "startPosition": 100509752 } ], "primaryId": "HGNC:27229", "crossReferences": [ { "id": "ENSEMBL:ENSG00000186106" }, { "id": "NCBI_Gene:157567" }, { "id": "PANTHER:PTHR22677" }, { "id": "UniProtKB:Q86W74" }, { "pages": [ "gene/references" ], "id": "RGD:1606443" }, { "pages": [ "gene" ], "id": "HGNC:27229" }, { "id": "RGD:1606443" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD49", "geneSynopsis": "Involved in positive regulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 49", "basicGeneticEntity": { "synonyms": [ "FGIF", "FLJ20189", "FLJ20441", "GBIF", "ankyrin repeat domain-containing protein 49", "fetal globin-inducing factor" ], "secondaryIds": [ "RGD:1606551" ], "genomeLocations": [ { "strand": "+", "endPosition": 94499583, "chromosome": "11", "assembly": "GRCh38", "startPosition": 94493979 } ], "primaryId": "HGNC:25970", "crossReferences": [ { "id": "ENSEMBL:ENSG00000168876" }, { "id": "NCBI_Gene:54851" }, { "id": "PANTHER:PTHR24198" }, { "id": "UniProtKB:Q8WVL7" }, { "pages": [ "gene/references" ], "id": "RGD:1606551" }, { "pages": [ "gene" ], "id": "HGNC:25970" }, { "id": "RGD:1606551" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD49P1", "soTermId": "SO:0000336", "name": "ANKRD49 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:14995361" ], "genomeLocations": [ { "strand": "-", "endPosition": 224500217, "chromosome": "2", "assembly": "GRCh38", "startPosition": 224499180 } ], "primaryId": "HGNC:54619", "crossReferences": [ { "id": "NCBI_Gene:100419814" }, { "pages": [ "gene/references" ], "id": "RGD:14995361" }, { "pages": [ "gene" ], "id": "HGNC:54619" }, { "id": "RGD:14995361" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD49P2", "soTermId": "SO:0000336", "name": "ANKRD49 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "AC022080.2", "AC022080.3", "ankyrin repeat domain 49 (ANKRD49) pseudogene" ], "secondaryIds": [ "RGD:18182958" ], "genomeLocations": [ { "strand": "-", "endPosition": 31535247, "chromosome": "12", "assembly": "GRCh38", "startPosition": 31534715 } ], "primaryId": "HGNC:54620", "crossReferences": [ { "id": "ENSEMBL:ENSG00000225349" }, { "id": "NCBI_Gene:116435289" }, { "pages": [ "gene/references" ], "id": "RGD:18182958" }, { "pages": [ "gene" ], "id": "HGNC:54620" }, { "id": "RGD:18182958" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD49P3", "soTermId": "SO:0000336", "name": "ANKRD49 pseudogene 3", "basicGeneticEntity": { "synonyms": [ "AC109439.1", "ankyrin repeat domain 49 (ANKRD49) pseudogene" ], "secondaryIds": [ "RGD:14995402" ], "genomeLocations": [ { "strand": "+", "endPosition": 136858541, "chromosome": "5", "assembly": "GRCh38", "startPosition": 136857495 } ], "primaryId": "HGNC:54621", "crossReferences": [ { "id": "ENSEMBL:ENSG00000248616" }, { "id": "NCBI_Gene:391834" }, { "pages": [ "gene/references" ], "id": "RGD:14995402" }, { "pages": [ "gene" ], "id": "HGNC:54621" }, { "id": "RGD:14995402" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD49P4", "soTermId": "SO:0000336", "name": "ANKRD49 pseudogene 4", "basicGeneticEntity": { "synonyms": [ "AC003045.1", "fetal globin-inducing factor (FGIF) pseudogene" ], "secondaryIds": [ "RGD:14995375" ], "genomeLocations": [ { "strand": "-", "endPosition": 117440890, "chromosome": "7", "assembly": "GRCh38", "startPosition": 117439902 } ], "primaryId": "HGNC:54622", "crossReferences": [ { "id": "ENSEMBL:ENSG00000214684" }, { "id": "NCBI_Gene:100130680" }, { "pages": [ "gene/references" ], "id": "RGD:14995375" }, { "pages": [ "gene" ], "id": "HGNC:54622" }, { "id": "RGD:14995375" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD50", "geneSynopsis": "Involved in endocytic recycling. Predicted to be located in endosome. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 50", "basicGeneticEntity": { "synonyms": [ "KIAA1223", "ankyrin repeat domain containing 50", "ankyrin repeat domain-containing protein 50" ], "secondaryIds": [ "RGD:1603620" ], "genomeLocations": [ { "strand": "-", "endPosition": 124712732, "chromosome": "4", "assembly": "GRCh38", "startPosition": 124664048 } ], "primaryId": "HGNC:29223", "crossReferences": [ { "id": "ENSEMBL:ENSG00000151458" }, { "id": "NCBI_Gene:57182" }, { "id": "PANTHER:PTHR24173" }, { "id": "UniProtKB:Q9ULJ7" }, { "pages": [ "gene/references" ], "id": "RGD:1603620" }, { "pages": [ "gene" ], "id": "HGNC:29223" }, { "id": "RGD:1603620" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD52", "geneSynopsis": "INTERACTS WITH 2-palmitoylglycerol; amosite asbestos; aristolochic acid A", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 52", "basicGeneticEntity": { "synonyms": [ "ANKRD33", "ARSC", "CVWG5837", "FLJ34236", "PP6-ARS-C", "ankyrin repeat domain 33", "ankyrin repeat domain-containing protein 52", "protein phosphatase 6 ankyrin repeat subunit C", "serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C", "serine/threonine-protein phosphatase 6 regulatory subunit ARS-C" ], "secondaryIds": [ "RGD:1601705" ], "genomeLocations": [ { "strand": "-", "endPosition": 56258384, "chromosome": "12", "assembly": "GRCh38", "startPosition": 56237807 } ], "primaryId": "HGNC:26614", "crossReferences": [ { "id": "ENSEMBL:ENSG00000139645" }, { "id": "NCBI_Gene:283373" }, { "id": "PANTHER:PTHR24166" }, { "id": "UniProtKB:Q8NB46" }, { "pages": [ "gene/references" ], "id": "RGD:1601705" }, { "pages": [ "gene" ], "id": "HGNC:26614" }, { "id": "RGD:1601705" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD53", "geneSynopsis": "Involved in mitotic metaphase chromosome alignment; regulation of microtubule cytoskeleton organization; and regulation of mitotic cytokinesis. Located in spindle pole. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 53", "basicGeneticEntity": { "synonyms": [ "FLJ12056", "FLJ36160", "ankyrin repeat domain-containing protein 53" ], "secondaryIds": [ "RGD:1605329" ], "genomeLocations": [ { "strand": "+", "endPosition": 70985499, "chromosome": "2", "assembly": "GRCh38", "startPosition": 70978380 } ], "primaryId": "HGNC:25691", "crossReferences": [ { "id": "ENSEMBL:ENSG00000144031" }, { "id": "NCBI_Gene:79998" }, { "id": "PANTHER:PTHR24160" }, { "id": "UniProtKB:Q8N9V6" }, { "pages": [ "gene/references" ], "id": "RGD:1605329" }, { "pages": [ "gene" ], "id": "HGNC:25691" }, { "id": "RGD:1605329" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD54", "geneSynopsis": "Predicted to enable protein kinase regulator activity. Predicted to be involved in positive regulation of erythrocyte differentiation and regulation of intracellular signal transduction. Predicted to act upstream of or within nucleocytoplasmic transport and regulation of protein kinase activity. Predicted to be located in midbody. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 54", "basicGeneticEntity": { "synonyms": [ "LIAR", "ankyrin repeat domain-containing protein 54", "lyn-interacting ankyrin repeat protein" ], "secondaryIds": [ "RGD:1605877" ], "genomeLocations": [ { "strand": "-", "endPosition": 37849341, "chromosome": "22", "assembly": "GRCh38", "startPosition": 37830853 } ], "primaryId": "HGNC:25185", "crossReferences": [ { "id": "ENSEMBL:ENSG00000100124" }, { "id": "NCBI_Gene:129138" }, { "id": "PANTHER:PTHR24197" }, { "id": "UniProtKB:Q6NXT1" }, { "pages": [ "gene/references" ], "id": "RGD:1605877" }, { "pages": [ "gene" ], "id": "HGNC:25185" }, { "id": "RGD:1605877" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD54P1", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 54 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:4889255" ], "genomeLocations": [ { "strand": "-", "endPosition": 45152157, "chromosome": "10", "assembly": "GRCh38", "startPosition": 45151242 } ], "primaryId": "HGNC:39214", "crossReferences": [ { "id": "ENSEMBL:ENSG00000236442" }, { "id": "NCBI_Gene:100419962" }, { "pages": [ "gene/references" ], "id": "RGD:4889255" }, { "pages": [ "gene" ], "id": "HGNC:39214" }, { "id": "RGD:4889255" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD55", "geneSynopsis": "ASSOCIATED WITH Abnormal circulating interleukin concentration; Abnormal hip joint morphology; Abnormal metacarpophalangeal joint morphology; INTERACTS WITH 17beta-estradiol; 4,4'-sulfonyldiphenol; arsane", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 55", "basicGeneticEntity": { "synonyms": [ "FLJ11795", "MGC126013", "MGC126014", "ankyrin repeat domain-containing protein 55" ], "secondaryIds": [ "RGD:1605952" ], "genomeLocations": [ { "strand": "-", "endPosition": 56233330, "chromosome": "5", "assembly": "GRCh38", "startPosition": 56099680 } ], "primaryId": "HGNC:25681", "crossReferences": [ { "id": "ENSEMBL:ENSG00000164512" }, { "id": "NCBI_Gene:79722" }, { "id": "PANTHER:PTHR24198" }, { "id": "UniProtKB:Q3KP44" }, { "pages": [ "gene/references" ], "id": "RGD:1605952" }, { "pages": [ "gene" ], "id": "HGNC:25681" }, { "id": "RGD:1605952" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD55-AS1", "soTermId": "SO:0001263", "name": "ANKRD55 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AC008892.1", "LOC105378976", "novel transcript", "uncharacterized LOC105378976" ], "secondaryIds": [ "RGD:38653479" ], "genomeLocations": [ { "strand": "+", "endPosition": 56111329, "chromosome": "5", "assembly": "GRCh38", "startPosition": 55978248 } ], "primaryId": "HGNC:59048", "crossReferences": [ { "id": "ENSEMBL:ENSG00000249236" }, { "id": "NCBI_Gene:105378976" }, { "pages": [ "gene/references" ], "id": "RGD:38653479" }, { "pages": [ "gene" ], "id": "HGNC:59048" }, { "id": "RGD:38653479" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD6", "geneSynopsis": "Predicted to be involved in negative regulation of canonical Wnt signaling pathway; positive regulation of JNK cascade; and protein targeting to chloroplast. Predicted to act upstream of or within positive regulation of Wnt signaling pathway, planar cell polarity pathway. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 6", "basicGeneticEntity": { "synonyms": [ "FLJ12637", "FLJ34916", "ankyrin repeat domain-containing protein 6", "diego homolog", "diversin" ], "secondaryIds": [ "RGD:1317569" ], "genomeLocations": [ { "strand": "+", "endPosition": 89633838, "chromosome": "6", "assembly": "GRCh38", "startPosition": 89433119 } ], "primaryId": "HGNC:17280", "crossReferences": [ { "id": "ENSEMBL:ENSG00000135299" }, { "id": "NCBI_Gene:22881" }, { "id": "PANTHER:PTHR24126" }, { "id": "UniProtKB:Q9Y2G4" }, { "pages": [ "gene/references" ], "id": "RGD:1317569" }, { "pages": [ "gene" ], "id": "HGNC:17280" }, { "id": "RGD:1317569" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD6-AS1", "soTermId": "SO:0001263", "name": "ANKRD6 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:616940311" ], "primaryId": "HGNC:40804", "crossReferences": [ { "id": "NCBI_Gene:141725167" }, { "pages": [ "gene/references" ], "id": "RGD:616940311" }, { "pages": [ "gene" ], "id": "HGNC:40804" }, { "id": "RGD:616940311" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD60", "geneSynopsis": "INTERACTS WITH benzo[a]pyrene; cadmium dichloride; methylisothiazolinone", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 60", "basicGeneticEntity": { "synonyms": [ "C20orf86", "ankyrin repeat domain-containing protein 60", "bA196N14.3", "chromosome 20 open reading frame 86" ], "secondaryIds": [ "RGD:1315900" ], "genomeLocations": [ { "strand": "-", "endPosition": 58228653, "chromosome": "20", "assembly": "GRCh38", "startPosition": 58216126 } ], "primaryId": "HGNC:16217", "crossReferences": [ { "id": "ENSEMBL:ENSG00000124227" }, { "id": "NCBI_Gene:140731" }, { "id": "PANTHER:PTHR22677" }, { "id": "UniProtKB:Q9BZ19" }, { "pages": [ "gene/references" ], "id": "RGD:1315900" }, { "pages": [ "gene" ], "id": "HGNC:16217" }, { "id": "RGD:1315900" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD61", "geneSynopsis": "Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 61", "basicGeneticEntity": { "synonyms": [ "ankyrin repeat domain-containing protein 61" ], "secondaryIds": [ "RGD:7111868" ], "genomeLocations": [ { "strand": "+", "endPosition": 6036552, "chromosome": "7", "assembly": "GRCh38", "startPosition": 6031376 } ], "primaryId": "HGNC:22467", "crossReferences": [ { "id": "ENSEMBL:ENSG00000157999" }, { "id": "NCBI_Gene:100310846" }, { "id": "PANTHER:PTHR24193" }, { "id": "UniProtKB:A6NGH8" }, { "pages": [ "gene/references" ], "id": "RGD:7111868" }, { "pages": [ "gene" ], "id": "HGNC:22467" }, { "id": "RGD:7111868" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD62", "geneSynopsis": "INTERACTS WITH 3',5'-cyclic UMP; cadmium atom; cadmium dichloride", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 62", "basicGeneticEntity": { "synonyms": [ "DKFZp686E2239", "DKFZp779B1634", "ankyrin repeat domain-containing protein 62" ], "secondaryIds": [ "RGD:2302254" ], "genomeLocations": [ { "strand": "+", "endPosition": 12181684, "chromosome": "18", "assembly": "GRCh38", "startPosition": 12093843 } ], "primaryId": "HGNC:35241", "crossReferences": [ { "id": "ENSEMBL:ENSG00000181626" }, { "id": "NCBI_Gene:342850" }, { "id": "PANTHER:PTHR24147" }, { "id": "UniProtKB:A6NC57" }, { "pages": [ "gene/references" ], "id": "RGD:2302254" }, { "pages": [ "gene" ], "id": "HGNC:35241" }, { "id": "RGD:2302254" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD62P1", "soTermId": "SO:0000336", "name": "ankyrin repeat domain 62 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:10755678" ], "genomeLocations": [ { "strand": "-", "endPosition": 16679598, "chromosome": "22", "assembly": "GRCh38", "startPosition": 16671090 } ], "primaryId": "HGNC:42363", "crossReferences": [ { "id": "ENSEMBL:ENSG00000259271" }, { "id": "NCBI_Gene:107080639" }, { "pages": [ "gene/references" ], "id": "RGD:10755678" }, { "pages": [ "gene" ], "id": "HGNC:42363" }, { "id": "RGD:10755678" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD62P1-PARP4P3", "geneSynopsis": "This locus represents putative naturally-occurring readthrough transcription between two pseudogenes, ANKRD62P1 (ankyrin repeat domain 62 pseudogene 1) and PARP4P3 (poly(ADP-ribose) polymerase family member 4 pseudogene 3). The individual pseudogene loci are not curated as transcribed regions. The readthrough transcript would likely not encode a functional protein. [provided by RefSeq, Jan 2016]", "soTermId": "SO:0000336", "name": "ANKRD62P1-PARP4P3 readthrough, transcribed pseudogene", "basicGeneticEntity": { "synonyms": [ "ADPRTL4", "PARP4P3", "VWFP1-ANKRD62P1-PARP4P3" ], "secondaryIds": [ "RGD:1353885" ], "genomeLocations": [ { "strand": "-", "endPosition": 16675540, "chromosome": "22", "assembly": "GRCh38", "startPosition": 16653708 } ], "primaryId": "HGNC:42393", "crossReferences": [ { "id": "ENSEMBL:ENSG00000189295" }, { "id": "NCBI_Gene:23783" }, { "pages": [ "gene/references" ], "id": "RGD:1353885" }, { "pages": [ "gene" ], "id": "HGNC:42393" }, { "id": "RGD:1353885" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD63", "geneSynopsis": "INTERACTS WITH cadmium atom; iron dichloride; lipopolysaccharide", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 63", "basicGeneticEntity": { "synonyms": [ "ankyrin repeat domain-containing protein 63" ], "secondaryIds": [ "RGD:5132170" ], "genomeLocations": [ { "strand": "-", "endPosition": 40283064, "chromosome": "15", "assembly": "GRCh38", "startPosition": 40278372 } ], "primaryId": "HGNC:40027", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230778" }, { "id": "NCBI_Gene:100131244" }, { "id": "PANTHER:PTHR24166" }, { "id": "UniProtKB:C9JTQ0" }, { "pages": [ "gene/references" ], "id": "RGD:5132170" }, { "pages": [ "gene" ], "id": "HGNC:40027" }, { "id": "RGD:5132170" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD65", "geneSynopsis": "INTERACTS WITH 17beta-estradiol; actinomycin D; aflatoxin B1", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 65", "basicGeneticEntity": { "synonyms": [ "ankyrin repeat domain-containing protein 65", "hypothetical protein LOC441869", "uncharacterized protein LOC441869" ], "secondaryIds": [ "RGD:5508531" ], "genomeLocations": [ { "strand": "-", "endPosition": 1421769, "chromosome": "1", "assembly": "GRCh38", "startPosition": 1415637 } ], "primaryId": "HGNC:42950", "crossReferences": [ { "id": "ENSEMBL:ENSG00000235098" }, { "id": "NCBI_Gene:441869" }, { "id": "PANTHER:PTHR24166" }, { "id": "UniProtKB:E5RJM6" }, { "pages": [ "gene/references" ], "id": "RGD:5508531" }, { "pages": [ "gene" ], "id": "HGNC:42950" }, { "id": "RGD:5508531" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD65-AS1", "soTermId": "SO:0001263", "name": "ANKRD65 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LOC105378585", "uncharacterized LOC105378585" ], "secondaryIds": [ "RGD:38602004" ], "genomeLocations": [ { "strand": "+", "endPosition": 1423287, "chromosome": "1", "assembly": "GRCh38", "startPosition": 1420166 } ], "primaryId": "HGNC:55844", "crossReferences": [ { "id": "NCBI_Gene:105378585" }, { "pages": [ "gene/references" ], "id": "RGD:38602004" }, { "pages": [ "gene" ], "id": "HGNC:55844" }, { "id": "RGD:38602004" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD66", "geneSynopsis": "INTERACTS WITH 4,4'-sulfonyldiphenol; aflatoxin B1; benzo[a]pyrene", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 66", "basicGeneticEntity": { "synonyms": [ "ankyrin repeat domain-containing protein 66", "hypothetical protein LOC100287718" ], "secondaryIds": [ "RGD:7204990" ], "genomeLocations": [ { "strand": "+", "endPosition": 46759506, "chromosome": "6", "assembly": "GRCh38", "startPosition": 46746933 } ], "primaryId": "HGNC:44669", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230062" }, { "id": "NCBI_Gene:100287718" }, { "id": "PANTHER:PTHR24201" }, { "id": "UniProtKB:B4E2M5" }, { "pages": [ "gene/references" ], "id": "RGD:7204990" }, { "pages": [ "gene" ], "id": "HGNC:44669" }, { "id": "RGD:7204990" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD7", "geneSynopsis": "Predicted to act upstream of or within blastocyst hatching. Located in centrosome and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 7", "basicGeneticEntity": { "synonyms": [ "TSA806", "ankyrin repeat domain-containing protein 7", "testicular tissue protein Li 19", "testis-specific ankyrin motif containing protein", "testis-specific protein TSA806" ], "secondaryIds": [ "RGD:1352130" ], "genomeLocations": [ { "strand": "+", "endPosition": 118496171, "chromosome": "7", "assembly": "GRCh38", "startPosition": 118214669 } ], "primaryId": "HGNC:18588", "crossReferences": [ { "id": "ENSEMBL:ENSG00000106013" }, { "id": "NCBI_Gene:56311" }, { "id": "PANTHER:PTHR24147" }, { "id": "UniProtKB:Q92527" }, { "pages": [ "gene/references" ], "id": "RGD:1352130" }, { "pages": [ "gene" ], "id": "HGNC:18588" }, { "id": "RGD:1352130" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKRD9", "geneSynopsis": "Enables ubiquitin-like ligase-substrate adaptor activity. Involved in intracellular copper ion homeostasis; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein ubiquitination. Located in cytoplasmic vesicle and cytosol. Part of Cul5-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat domain 9", "basicGeneticEntity": { "synonyms": [ "MGC21990", "ankyrin repeat domain-containing protein 9" ], "secondaryIds": [ "RGD:1316983" ], "genomeLocations": [ { "strand": "-", "endPosition": 102509824, "chromosome": "14", "assembly": "GRCh38", "startPosition": 102501767 } ], "primaryId": "HGNC:20096", "crossReferences": [ { "id": "ENSEMBL:ENSG00000156381" }, { "id": "NCBI_Gene:122416" }, { "id": "PANTHER:PTHR24133" }, { "id": "UniProtKB:Q96BM1" }, { "pages": [ "gene/references" ], "id": "RGD:1316983" }, { "pages": [ "gene" ], "id": "HGNC:20096" }, { "id": "RGD:1316983" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKS1A", "geneSynopsis": "Predicted to enable ephrin receptor binding activity. Predicted to be involved in ephrin receptor signaling pathway; neuron remodeling; and substrate-dependent cell migration. Predicted to act upstream of or within negative regulation of ubiquitin-dependent protein catabolic process and regulation of ephrin receptor signaling pathway. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat and sterile alpha motif domain containing 1A", "basicGeneticEntity": { "synonyms": [ "ANKS1", "KIAA0229", "MGC42354", "Odin", "ankyrin repeat and SAM domain containing 1", "ankyrin repeat and SAM domain-containing protein 1A" ], "secondaryIds": [ "RGD:1319381" ], "genomeLocations": [ { "strand": "+", "endPosition": 35097990, "chromosome": "6", "assembly": "GRCh38", "startPosition": 34889243 } ], "primaryId": "HGNC:20961", "crossReferences": [ { "id": "ENSEMBL:ENSG00000064999" }, { "id": "NCBI_Gene:23294" }, { "id": "PANTHER:PTHR24174" }, { "id": "UniProtKB:Q92625" }, { "pages": [ "gene/references" ], "id": "RGD:1319381" }, { "pages": [ "gene" ], "id": "HGNC:20961" }, { "id": "RGD:1319381" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKS1B", "geneSynopsis": "This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]", "soTermId": "SO:0001217", "name": "ankyrin repeat and sterile alpha motif domain containing 1B", "basicGeneticEntity": { "synonyms": [ "AIDA", "AIDA-1", "ANKS2", "E2a-Pbx1-associated protein", "EB-1", "EB1", "MGC26087", "amyloid-beta precursor protein intracellular domain associated protein 1", "amyloid-beta protein intracellular domain-associated protein 1", "ankyrin repeat and sterile alpha motif domain-containing protein 1B", "cajalin 2", "cajalin-2" ], "secondaryIds": [ "RGD:1602104" ], "genomeLocations": [ { "strand": "-", "endPosition": 99984936, "chromosome": "12", "assembly": "GRCh38", "startPosition": 98726457 } ], "primaryId": "HGNC:24600", "crossReferences": [ { "id": "ENSEMBL:ENSG00000185046" }, { "id": "NCBI_Gene:56899" }, { "id": "PANTHER:PTHR24174" }, { "id": "UniProtKB:Q7Z6G8" }, { "pages": [ "gene/references" ], "id": "RGD:1602104" }, { "pages": [ "gene" ], "id": "HGNC:24600" }, { "id": "RGD:1602104" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKS3", "geneSynopsis": "Predicted to be located in cytoplasm. Predicted to be active in cilium. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat and sterile alpha motif domain containing 3", "basicGeneticEntity": { "synonyms": [ "FLJ32345", "FLJ32767", "KIAA1977", "ankyrin repeat and SAM domain-containing protein 3" ], "secondaryIds": [ "RGD:1604545" ], "genomeLocations": [ { "strand": "-", "endPosition": 4734378, "chromosome": "16", "assembly": "GRCh38", "startPosition": 4696510 } ], "primaryId": "HGNC:29422", "crossReferences": [ { "id": "ENSEMBL:ENSG00000168096" }, { "id": "NCBI_Gene:124401" }, { "id": "PANTHER:PTHR24184" }, { "id": "UniProtKB:Q6ZW76" }, { "pages": [ "gene/references" ], "id": "RGD:1604545" }, { "pages": [ "gene" ], "id": "HGNC:29422" }, { "id": "RGD:1604545" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKS4B", "geneSynopsis": "Involved in brush border assembly; protein localization to microvillus; and protein-containing complex assembly. Located in brush border and microvillus. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat and sterile alpha motif domain containing 4B", "basicGeneticEntity": { "synonyms": [ "FLJ38819", "HARP", "MGC133380", "MGC133381", "ankyrin repeat and SAM domain-containing protein 4B", "harmonin-interacting ankyrin repeat-containing protein", "harmonin-interacting ankyrin-repeat containing protein" ], "secondaryIds": [ "RGD:1606413" ], "genomeLocations": [ { "strand": "+", "endPosition": 21253850, "chromosome": "16", "assembly": "GRCh38", "startPosition": 21233699 } ], "primaryId": "HGNC:26795", "crossReferences": [ { "id": "ENSEMBL:ENSG00000175311" }, { "id": "ENSEMBL:ENSG00000284290" }, { "id": "NCBI_Gene:257629" }, { "id": "PANTHER:PTHR24161" }, { "id": "UniProtKB:Q8N8V4" }, { "pages": [ "gene/references" ], "id": "RGD:1606413" }, { "pages": [ "gene" ], "id": "HGNC:26795" }, { "id": "RGD:1606413" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKS6", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ankyrin repeat and sterile alpha motif domain containing 6", "basicGeneticEntity": { "synonyms": [ "ANKRD14", "DKFZp686D24121", "DKFZp781I0117", "MGC70366", "NPHP16", "PKDR1", "SAM domain-containing protein 6", "SAMD6", "ankyrin repeat and SAM domain-containing protein 6", "ankyrin repeat domain 14", "ankyrin repeat domain-containing protein 14", "samCystin", "sterile alpha motif domain containing 6", "sterile alpha motif domain-containing protein 6" ], "secondaryIds": [ "RGD:1319654" ], "genomeLocations": [ { "strand": "-", "endPosition": 98796965, "chromosome": "9", "assembly": "GRCh38", "startPosition": 98731329 } ], "primaryId": "HGNC:26724", "crossReferences": [ { "id": "ENSEMBL:ENSG00000165138" }, { "id": "NCBI_Gene:203286" }, { "id": "PANTHER:PTHR23206" }, { "id": "UniProtKB:Q68DC2" }, { "pages": [ "gene/references" ], "id": "RGD:1319654" }, { "pages": [ "gene" ], "id": "HGNC:26724" }, { "id": "RGD:1319654" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKUB1", "geneSynopsis": "INTERACTS WITH 17beta-estradiol; aflatoxin B1; benzo[a]pyrene", "soTermId": "SO:0001217", "name": "ankyrin repeat and ubiquitin domain containing 1", "basicGeneticEntity": { "synonyms": [ "C3orf16", "FLJ40759", "ankyrin repeat and ubiquitin domain-containing 1", "hypothetical protein LOC389161" ], "secondaryIds": [ "RGD:1348688" ], "genomeLocations": [ { "strand": "-", "endPosition": 149968385, "chromosome": "3", "assembly": "GRCh38", "startPosition": 149761100 } ], "primaryId": "HGNC:29642", "crossReferences": [ { "id": "ENSEMBL:ENSG00000206199" }, { "id": "NCBI_Gene:389161" }, { "id": "PANTHER:PTHR46885" }, { "id": "UniProtKB:A6NFN9" }, { "pages": [ "gene/references" ], "id": "RGD:1348688" }, { "pages": [ "gene" ], "id": "HGNC:29642" }, { "id": "RGD:1348688" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANKZF1", "geneSynopsis": "Enables RNA endonuclease activity and catalytic activity, acting on a tRNA. Involved in cellular response to hydrogen peroxide; protein quality control for misfolded or incompletely synthesized proteins; and rescue of stalled ribosome. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1", "basicGeneticEntity": { "synonyms": [ "FLJ10415", "FLJ13144", "Vms1", "ZNF744", "ankyrin repeat and zinc finger domain containing 1", "ankyrin repeat and zinc finger domain-containing protein 1", "tRNA endonuclease ANKZF1", "zinc finger protein 744" ], "secondaryIds": [ "RGD:1602704" ], "genomeLocations": [ { "strand": "+", "endPosition": 219236679, "chromosome": "2", "assembly": "GRCh38", "startPosition": 219229769 } ], "primaryId": "HGNC:25527", "crossReferences": [ { "id": "ENSEMBL:ENSG00000163516" }, { "id": "NCBI_Gene:55139" }, { "id": "PANTHER:PTHR16036" }, { "id": "UniProtKB:Q9H8Y5" }, { "pages": [ "gene/references" ], "id": "RGD:1602704" }, { "pages": [ "gene" ], "id": "HGNC:25527" }, { "id": "RGD:1602704" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANLN", "geneSynopsis": "This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]", "soTermId": "SO:0001217", "name": "anillin, actin binding protein", "basicGeneticEntity": { "synonyms": [ "DKFZp779A055", "FSFS8", "FSGS8", "Scraps", "actin-binding protein anillin", "anillin", "anillin actin binding protein", "scra" ], "secondaryIds": [ "RGD:1320339" ], "genomeLocations": [ { "strand": "+", "endPosition": 36453791, "chromosome": "7", "assembly": "GRCh38", "startPosition": 36389727 } ], "primaryId": "HGNC:14082", "crossReferences": [ { "id": "ENSEMBL:ENSG00000011426" }, { "id": "NCBI_Gene:54443" }, { "id": "PANTHER:PTHR21538" }, { "id": "UniProtKB:Q9NQW6" }, { "pages": [ "gene/references" ], "id": "RGD:1320339" }, { "pages": [ "gene" ], "id": "HGNC:14082" }, { "id": "RGD:1320339" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANO1", "geneSynopsis": "Enables identical protein binding activity; iodide transmembrane transporter activity; and ligand-gated monoatomic ion channel activity. Involved in several processes, including monoatomic anion transport; mucus secretion; and positive regulation of insulin secretion involved in cellular response to glucose stimulus. Located in apical plasma membrane and nucleoplasm. Implicated in Moyamoya disease. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "anoctamin 1", "basicGeneticEntity": { "synonyms": [ "Ca2+-activated Cl- channel", "DOG1", "FLJ10261", "INDMS", "MYMY7", "ORAOV2", "TAOS2", "TMEM16A", "anoctamin 1, calcium activated chloride channel", "anoctamin-1", "calcium activated chloride channel", "discovered on gastrointestinal stromal tumors protein 1", "oral cancer overexpressed 2", "oral cancer overexpressed protein 2", "transmembrane protein 16A (eight membrane-spanning domains)", "tumor amplified and overexpressed sequence 2", "tumor-amplified and overexpressed sequence 2" ], "secondaryIds": [ "RGD:1321890" ], "genomeLocations": [ { "strand": "+", "endPosition": 70189530, "chromosome": "11", "assembly": "GRCh38", "startPosition": 69965997 } ], "primaryId": "HGNC:21625", "crossReferences": [ { "id": "ENSEMBL:ENSG00000131620" }, { "id": "NCBI_Gene:55107" }, { "id": "PANTHER:PTHR12308" }, { "id": "UniProtKB:Q5XXA6" }, { "pages": [ "gene/references" ], "id": "RGD:1321890" }, { "pages": [ "gene" ], "id": "HGNC:21625" }, { "id": "RGD:1321890" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANO1-AS1", "geneSynopsis": "INTERACTS WITH sodium arsenite", "soTermId": "SO:0001263", "name": "ANO1 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481331" ], "genomeLocations": [ { "strand": "-", "endPosition": 70188509, "chromosome": "11", "assembly": "GRCh38", "startPosition": 70187788 } ], "primaryId": "HGNC:40016", "crossReferences": [ { "id": "ENSEMBL:ENSG00000254902" }, { "id": "NCBI_Gene:100873981" }, { "pages": [ "gene/references" ], "id": "RGD:6481331" }, { "pages": [ "gene" ], "id": "HGNC:40016" }, { "id": "RGD:6481331" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANO10", "geneSynopsis": "The transmembrane protein encoded by this gene belongs to the anoctamin family of calcium-activated chloride channels, also known as the transmembrane 16 family. The encoded protein contains eight transmembrane domains with cytosolic N- and C-termini. Defects in this gene may cause autosomal recessive spinocerebellar ataxia-10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]", "soTermId": "SO:0001217", "name": "anoctamin 10", "basicGeneticEntity": { "synonyms": [ "FLJ10375", "MGC47890", "SCAR10", "TMEM16K", "anoctamin-10", "transmembrane protein 16K" ], "secondaryIds": [ "RGD:1605667" ], "genomeLocations": [ { "strand": "-", "endPosition": 43691594, "chromosome": "3", "assembly": "GRCh38", "startPosition": 43354859 } ], "primaryId": "HGNC:25519", "crossReferences": [ { "id": "ENSEMBL:ENSG00000160746" }, { "id": "NCBI_Gene:55129" }, { "id": "PANTHER:PTHR12308" }, { "id": "UniProtKB:Q9NW15" }, { "pages": [ "gene/references" ], "id": "RGD:1605667" }, { "pages": [ "gene" ], "id": "HGNC:25519" }, { "id": "RGD:1605667" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANO2", "geneSynopsis": "ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011]", "soTermId": "SO:0001217", "name": "anoctamin 2", "basicGeneticEntity": { "synonyms": [ "C12orf3", "DKFZp434P102", "TMEM16B", "anoctamin 2, calcium activated chloride channel", "anoctamin-2", "transmembrane protein 16B (eight membrane-spanning domains)" ], "secondaryIds": [ "RGD:1352763" ], "genomeLocations": [ { "strand": "-", "endPosition": 5946232, "chromosome": "12", "assembly": "GRCh38", "startPosition": 5531869 } ], "primaryId": "HGNC:1183", "crossReferences": [ { "id": "ENSEMBL:ENSG00000047617" }, { "id": "NCBI_Gene:57101" }, { "id": "PANTHER:PTHR12308" }, { "id": "UniProtKB:Q9NQ90" }, { "pages": [ "gene/references" ], "id": "RGD:1352763" }, { "pages": [ "gene" ], "id": "HGNC:1183" }, { "id": "RGD:1352763" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANO3", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "anoctamin 3", "basicGeneticEntity": { "synonyms": [ "C11orf25", "CTD-2507G9.1", "DYT23", "DYT24", "GENX-3947", "TMEM16C", "anoctamin-3", "dystonia 23", "transmembrane protein 16C (eight membrane-spanning domains)" ], "secondaryIds": [ "RGD:1318896" ], "genomeLocations": [ { "strand": "+", "endPosition": 26663289, "chromosome": "11", "assembly": "GRCh38", "startPosition": 26188808 } ], "primaryId": "HGNC:14004", "crossReferences": [ { "id": "ENSEMBL:ENSG00000134343" }, { "id": "NCBI_Gene:63982" }, { "id": "PANTHER:PTHR12308" }, { "id": "UniProtKB:Q9BYT9" }, { "pages": [ "gene/references" ], "id": "RGD:1318896" }, { "pages": [ "gene" ], "id": "HGNC:14004" }, { "id": "RGD:1318896" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANO3-AS1", "soTermId": "SO:0001263", "name": "ANO3 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:14394426" ], "genomeLocations": [ { "strand": "-", "endPosition": 26332020, "chromosome": "11", "assembly": "GRCh38", "startPosition": 26285578 } ], "primaryId": "HGNC:54190", "crossReferences": [ { "id": "ENSEMBL:ENSG00000254819" }, { "id": "NCBI_Gene:105376599" }, { "pages": [ "gene/references" ], "id": "RGD:14394426" }, { "pages": [ "gene" ], "id": "HGNC:54190" }, { "id": "RGD:14394426" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANO4", "geneSynopsis": "Enables intracellularly calcium-gated chloride channel activity. Involved in chloride transmembrane transport. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "anoctamin 4", "basicGeneticEntity": { "synonyms": [ "FLJ34221", "FLJ34272", "FLJ35277", "MGC130026", "TMEM16D", "anoctamin-4", "transmembrane protein 16D" ], "secondaryIds": [ "RGD:1321043" ], "genomeLocations": [ { "strand": "+", "endPosition": 101128648, "chromosome": "12", "assembly": "GRCh38", "startPosition": 100717244 } ], "primaryId": "HGNC:23837", "crossReferences": [ { "id": "ENSEMBL:ENSG00000151572" }, { "id": "ENSEMBL:ENSG00000262139" }, { "id": "NCBI_Gene:121601" }, { "id": "PANTHER:PTHR12308" }, { "id": "UniProtKB:Q32M45" }, { "pages": [ "gene/references" ], "id": "RGD:1321043" }, { "pages": [ "gene" ], "id": "HGNC:23837" }, { "id": "RGD:1321043" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANO5", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "anoctamin 5", "basicGeneticEntity": { "synonyms": [ "GDD1", "LGMD2L", "LGMDR12", "TMEM16E", "anoctamin-5", "gnathodiaphyseal dysplasia 1 protein", "integral membrane protein GDD1", "limb girdle muscular dystrophy 2L (autosomal recessive)", "transmembrane protein 16E" ], "secondaryIds": [ "RGD:1342534" ], "genomeLocations": [ { "strand": "+", "endPosition": 22283567, "chromosome": "11", "assembly": "GRCh38", "startPosition": 21782659 } ], "primaryId": "HGNC:27337", "crossReferences": [ { "id": "ENSEMBL:ENSG00000171714" }, { "id": "NCBI_Gene:203859" }, { "id": "PANTHER:PTHR12308" }, { "id": "UniProtKB:Q75V66" }, { "pages": [ "gene/references" ], "id": "RGD:1342534" }, { "pages": [ "gene" ], "id": "HGNC:27337" }, { "id": "RGD:1342534" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANO6", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "anoctamin 6", "basicGeneticEntity": { "synonyms": [ "BDPLT7", "MGC104751", "SCAN channel", "SCTS", "TMEM16F", "anoctamin-6", "small-conductance calcium-activated nonselective cation channel", "transmembrane protein 16F" ], "secondaryIds": [ "RGD:1312398" ], "genomeLocations": [ { "strand": "+", "endPosition": 45482280, "chromosome": "12", "assembly": "GRCh38", "startPosition": 45215987 } ], "primaryId": "HGNC:25240", "crossReferences": [ { "id": "ENSEMBL:ENSG00000177119" }, { "id": "NCBI_Gene:196527" }, { "id": "PANTHER:PTHR12308" }, { "id": "UniProtKB:Q4KMQ2" }, { "pages": [ "gene/references" ], "id": "RGD:1312398" }, { "pages": [ "gene" ], "id": "HGNC:25240" }, { "id": "RGD:1312398" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANO7", "geneSynopsis": "This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2011]", "soTermId": "SO:0001217", "name": "anoctamin 7", "basicGeneticEntity": { "synonyms": [ "D-TMPP", "DTMPP", "Dresden-transmembrane protein of the prostate", "IPCA-5", "IPCA5", "NGEP", "PCANAP5", "PCANAP5L", "TMEM16G", "anoctamin-7", "dresden transmembrane protein of the prostate", "new gene expressed in prostate", "prostate cancer associated protein 5", "prostate cancer-associated gene 5", "prostate cancer-associated protein 5", "transmembrane protein 16G" ], "secondaryIds": [ "RGD:1351029" ], "genomeLocations": [ { "strand": "+", "endPosition": 241240308, "chromosome": "2", "assembly": "GRCh38", "startPosition": 241188509 } ], "primaryId": "HGNC:31677", "crossReferences": [ { "id": "ENSEMBL:ENSG00000146205" }, { "id": "NCBI_Gene:50636" }, { "id": "PANTHER:PTHR12308" }, { "id": "UniProtKB:Q6IWH7" }, { "pages": [ "gene/references" ], "id": "RGD:1351029" }, { "pages": [ "gene" ], "id": "HGNC:31677" }, { "id": "RGD:1351029" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANO7L1", "soTermId": "SO:0000336", "name": "anoctamin 7 like 1 (pseudogene)", "basicGeneticEntity": { "synonyms": [ "ANO7P1", "C1orf224", "FLJ33962", "TMEM16M", "anoctamin 7 like 1", "anoctamin 7 pseudogene 1", "anoctamin 7-like 1", "anoctamin-1", "anoctamin-4-like", "chromosome 1 open reading frame 224", "transmembrane protein 16M" ], "secondaryIds": [ "RGD:1602957" ], "genomeLocations": [ { "strand": "-", "endPosition": 16228027, "chromosome": "1", "assembly": "GRCh38", "startPosition": 16215907 } ], "primaryId": "HGNC:32248", "crossReferences": [ { "id": "ENSEMBL:ENSG00000237276" }, { "id": "NCBI_Gene:101927546" }, { "pages": [ "gene/references" ], "id": "RGD:1602957" }, { "pages": [ "gene" ], "id": "HGNC:32248" }, { "id": "RGD:1602957" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANO8", "geneSynopsis": "Enables intracellularly calcium-gated chloride channel activity. Involved in chloride transmembrane transport. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "anoctamin 8", "basicGeneticEntity": { "synonyms": [ "KIAA1623", "TMEM16H", "anoctamin-8", "transmembrane protein 16H" ], "secondaryIds": [ "RGD:1349559" ], "genomeLocations": [ { "strand": "-", "endPosition": 17334855, "chromosome": "19", "assembly": "GRCh38", "startPosition": 17323223 } ], "primaryId": "HGNC:29329", "crossReferences": [ { "id": "ENSEMBL:ENSG00000074855" }, { "id": "NCBI_Gene:57719" }, { "id": "PANTHER:PTHR12308" }, { "id": "UniProtKB:Q9HCE9" }, { "pages": [ "gene/references" ], "id": "RGD:1349559" }, { "pages": [ "gene" ], "id": "HGNC:29329" }, { "id": "RGD:1349559" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANO9", "geneSynopsis": "The protein encoded by this gene is a member of the TMEM16 (anoctamin) family of proteins, some of which form integral membrane calcium-activated chloride channels. The function of the encoded protein has yet to be elucidated, although it may have channel-forming abilities and also may have phospholipid scramblase activity. This gene has been observed to be upregulated in stage II and III colorectal cancers. [provided by RefSeq, Dec 2016]", "soTermId": "SO:0001217", "name": "anoctamin 9", "basicGeneticEntity": { "synonyms": [ "PIG5", "TMEM16J", "TP53I5", "anoctamin-9", "p53-induced gene 5 protein", "transmembrane protein 16J", "tumor protein p53 inducible protein 5", "tumor protein p53-inducible protein 5" ], "secondaryIds": [ "RGD:1345920" ], "genomeLocations": [ { "strand": "-", "endPosition": 442072, "chromosome": "11", "assembly": "GRCh38", "startPosition": 417921 } ], "primaryId": "HGNC:20679", "crossReferences": [ { "id": "ENSEMBL:ENSG00000185101" }, { "id": "NCBI_Gene:338440" }, { "id": "PANTHER:PTHR12308" }, { "id": "UniProtKB:A1A5B4" }, { "pages": [ "gene/references" ], "id": "RGD:1345920" }, { "pages": [ "gene" ], "id": "HGNC:20679" }, { "id": "RGD:1345920" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANOS1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "anosmin 1", "basicGeneticEntity": { "synonyms": [ "ADMLX", "HH1", "HHA", "KAL", "KAL1", "KALIG-1", "KMS", "Kallmann syndrome 1 sequence", "Kallmann syndrome interval gene 1", "Kallmann syndrome-1 sequence (anosmin-1)", "WAP four-disulfide core domain 19", "WFDC19", "adhesion molecule-like X-linked", "anosmin-1", "kallmann syndrome protein" ], "secondaryIds": [ "RGD:1350490" ], "genomeLocations": [ { "strand": "-", "endPosition": 8732195, "chromosome": "X", "assembly": "GRCh38", "startPosition": 8528874 } ], "primaryId": "HGNC:6211", "crossReferences": [ { "id": "ENSEMBL:ENSG00000011201" }, { "id": "NCBI_Gene:3730" }, { "id": "PANTHER:PTHR14131" }, { "id": "UniProtKB:P23352" }, { "pages": [ "gene/references" ], "id": "RGD:1350490" }, { "pages": [ "gene" ], "id": "HGNC:6211" }, { "id": "RGD:1350490" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANOS2P", "soTermId": "SO:0000336", "name": "anosmin 2, pseudogene", "basicGeneticEntity": { "synonyms": [ "ADMLY", "KAL-Y", "KALP" ], "secondaryIds": [ "RGD:1352931" ], "genomeLocations": [ { "strand": "+", "endPosition": 13920022, "chromosome": "Y", "assembly": "GRCh38", "startPosition": 13751656 } ], "primaryId": "HGNC:6214", "crossReferences": [ { "id": "ENSEMBL:ENSG00000241859" }, { "id": "NCBI_Gene:3734" }, { "pages": [ "gene/references" ], "id": "RGD:1352931" }, { "pages": [ "gene" ], "id": "HGNC:6214" }, { "id": "RGD:1352931" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANP32A", "geneSynopsis": "Enables RNA binding activity. Involved in nucleocytoplasmic transport. Located in endoplasmic reticulum; nucleus; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "acidic nuclear phosphoprotein 32 family member A", "basicGeneticEntity": { "synonyms": [ "C15orf1", "HPPCn", "I1PP2A", "LANP", "MAPM", "MGC119787", "MGC150373", "PHAP1", "PHAPI", "PP32", "acidic (leucine-rich) nuclear phosphoprotein 32 family, member A", "acidic leucine-rich nuclear phosphoprotein 32 family member A", "acidic nuclear phosphoprotein pp32", "cerebellar leucine rich acidic nuclear protein", "hepatopoietin Cn", "inhibitor-1 of protein phosphatase-2A", "leucine-rich acidic nuclear protein", "mapmodulin", "potent heat-stable protein phosphatase 2A inhibitor I1PP2A", "putative HLA-DR-associated protein I", "putative human HLA class II associated protein I" ], "secondaryIds": [ "RGD:1606331" ], "genomeLocations": [ { "strand": "-", "endPosition": 68820924, "chromosome": "15", "assembly": "GRCh38", "startPosition": 68778534 } ], "primaryId": "HGNC:13233", "crossReferences": [ { "id": "ENSEMBL:ENSG00000140350" }, { "id": "NCBI_Gene:8125" }, { "id": "PANTHER:PTHR11375" }, { "id": "UniProtKB:P39687" }, { "pages": [ "gene/references" ], "id": "RGD:1606331" }, { "pages": [ "gene" ], "id": "HGNC:13233" }, { "id": "RGD:1606331" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANP32A-IT1", "geneSynopsis": "INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; 4,4'-sulfonyldiphenol; aflatoxin B1", "soTermId": "SO:0001263", "name": "ANP32A intronic transcript 1", "basicGeneticEntity": { "synonyms": [ "C15orf28", "FLJ11722", "HsT18971", "MGC168461", "NCRNA00321" ], "secondaryIds": [ "RGD:1343834" ], "genomeLocations": [ { "strand": "-", "endPosition": 68807101, "chromosome": "15", "assembly": "GRCh38", "startPosition": 68803821 } ], "primaryId": "HGNC:25672", "crossReferences": [ { "id": "NCBI_Gene:80035" }, { "pages": [ "gene/references" ], "id": "RGD:1343834" }, { "pages": [ "gene" ], "id": "HGNC:25672" }, { "id": "RGD:1343834" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANP32AP1", "geneSynopsis": "INTERACTS WITH benzene-1,2,4-triol; benzo[a]pyrene; cyclosporin A", "soTermId": "SO:0000336", "name": "acidic nuclear phosphoprotein 32 family member A pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:5490864" ], "genomeLocations": [ { "strand": "+", "endPosition": 35238197, "chromosome": "15", "assembly": "GRCh38", "startPosition": 35237150 } ], "primaryId": "HGNC:42949", "crossReferences": [ { "id": "ENSEMBL:ENSG00000293367" }, { "id": "ENSEMBL:ENSG00000259516" }, { "id": "NCBI_Gene:723972" }, { "pages": [ "gene/references" ], "id": "RGD:5490864" }, { "pages": [ "gene" ], "id": "HGNC:42949" }, { "id": "RGD:5490864" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANP32B", "geneSynopsis": "Enables RNA polymerase binding activity and histone binding activity. Involved in several processes, including negative regulation of apoptotic process; nucleosome assembly; and positive regulation of protein export from nucleus. Located in cytoplasm; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "acidic nuclear phosphoprotein 32 family member B", "basicGeneticEntity": { "synonyms": [ "APRIL", "PHAPI2", "SSP29", "acidic (leucine-rich) nuclear phosphoprotein 32 family, member B", "acidic leucine-rich nuclear phosphoprotein 32 family member B", "acidic protein rich in leucines", "putative HLA-DR-associated protein I-2", "silver-stainable protein SSP29" ], "secondaryIds": [ "RGD:731659" ], "genomeLocations": [ { "strand": "+", "endPosition": 98015943, "chromosome": "9", "assembly": "GRCh38", "startPosition": 97983215 } ], "primaryId": "HGNC:16677", "crossReferences": [ { "id": "ENSEMBL:ENSG00000136938" }, { "id": "NCBI_Gene:10541" }, { "id": "PANTHER:PTHR11375" }, { "id": "UniProtKB:Q92688" }, { "pages": [ "gene/references" ], "id": "RGD:731659" }, { "pages": [ "gene" ], "id": "HGNC:16677" }, { "id": "RGD:731659" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANP32BP1", "geneSynopsis": "INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; bisphenol A; bisphenol F", "soTermId": "SO:0000336", "name": "acidic nuclear phosphoprotein 32 family member B pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:2947095" ], "genomeLocations": [ { "strand": "-", "endPosition": 75322706, "chromosome": "15", "assembly": "GRCh38", "startPosition": 75321582 } ], "primaryId": "HGNC:24267", "crossReferences": [ { "id": "ENSEMBL:ENSG00000293333" }, { "id": "ENSEMBL:ENSG00000259790" }, { "id": "NCBI_Gene:646791" }, { "pages": [ "gene/references" ], "id": "RGD:2947095" }, { "pages": [ "gene" ], "id": "HGNC:24267" }, { "id": "RGD:2947095" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANP32BP2", "soTermId": "SO:0000336", "name": "acidic nuclear phosphoprotein 32 family member B pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:2947013" ], "genomeLocations": [ { "strand": "+", "endPosition": 44652542, "chromosome": "22", "assembly": "GRCh38", "startPosition": 44651835 } ], "primaryId": "HGNC:38552", "crossReferences": [ { "id": "ENSEMBL:ENSG00000231801" }, { "id": "NCBI_Gene:100130708" }, { "pages": [ "gene/references" ], "id": "RGD:2947013" }, { "pages": [ "gene" ], "id": "HGNC:38552" }, { "id": "RGD:2947013" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANP32BP3", "soTermId": "SO:0000336", "name": "acidic nuclear phosphoprotein 32 family member B pseudogene 3", "basicGeneticEntity": { "secondaryIds": [ "RGD:6484654" ], "genomeLocations": [ { "strand": "-", "endPosition": 81118340, "chromosome": "15", "assembly": "GRCh38", "startPosition": 81117139 } ], "primaryId": "HGNC:44089", "crossReferences": [ { "id": "ENSEMBL:ENSG00000259461" }, { "id": "NCBI_Gene:100652899" }, { "pages": [ "gene/references" ], "id": "RGD:6484654" }, { "pages": [ "gene" ], "id": "HGNC:44089" }, { "id": "RGD:6484654" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANP32CP", "geneSynopsis": "Predicted to enable histone binding activity. Predicted to be involved in nucleocytoplasmic transport and regulation of apoptotic process. Predicted to be active in nucleus and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0000336", "name": "acidic nuclear phosphoprotein 32 family member C, pseudogene", "basicGeneticEntity": { "synonyms": [ "ANP32C", "PP32R1", "acidic (leucine-rich) nuclear phosphoprotein 32 family, member C", "acidic leucine-rich nuclear phosphoprotein 32 family member C", "acidic nuclear phosphoprotein 32 family member C", "phosphoprotein 32-related protein 1", "pp32 related 1", "tumorigenic protein pp32r1" ], "secondaryIds": [ "RGD:1317675" ], "genomeLocations": [ { "strand": "-", "endPosition": 164197821, "chromosome": "4", "assembly": "GRCh38", "startPosition": 164196840 } ], "primaryId": "HGNC:16675", "crossReferences": [ { "id": "ENSEMBL:ENSG00000248546" }, { "id": "NCBI_Gene:23520" }, { "id": "PANTHER:PTHR11375" }, { "id": "UniProtKB:O43423" }, { "pages": [ "gene/references" ], "id": "RGD:1317675" }, { "pages": [ "gene" ], "id": "HGNC:16675" }, { "id": "RGD:1317675" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANP32D", "geneSynopsis": "Phosphoprotein 32 (PP32) is a tumor suppressor that can inhibit several types of cancers, including prostate and breast cancers. The protein encoded by this gene is one of at least two proteins that are similar in amino acid sequence to PP32 and are part of the same acidic nuclear phosphoprotein gene family. However, unlike PP32, the encoded protein is tumorigenic. The tumor suppressor function of PP32 has been localized to a 25 amino acid region that is absent in the protein encoded by this gene. This gene does not contain introns. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "acidic nuclear phosphoprotein 32 family member D", "basicGeneticEntity": { "synonyms": [ "PP32R2", "acidic (leucine-rich) nuclear phosphoprotein 32 family, member D", "acidic leucine-rich nuclear phosphoprotein 32 family member D", "acidic nuclear phosphoprotein 32D", "phosphoprotein 32-related protein 2", "pp32 related 2", "tumorigenic protein pp32r2" ], "secondaryIds": [ "RGD:1351063" ], "genomeLocations": [ { "strand": "+", "endPosition": 48473622, "chromosome": "12", "assembly": "GRCh38", "startPosition": 48472559 } ], "primaryId": "HGNC:16676", "crossReferences": [ { "id": "ENSEMBL:ENSG00000139223" }, { "id": "NCBI_Gene:23519" }, { "id": "PANTHER:PTHR11375" }, { "id": "UniProtKB:O95626" }, { "pages": [ "gene/references" ], "id": "RGD:1351063" }, { "pages": [ "gene" ], "id": "HGNC:16676" }, { "id": "RGD:1351063" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANP32E", "geneSynopsis": "Enables histone binding activity; histone chaperone activity; and protein folding chaperone. Predicted to be involved in regulation of apoptotic process. Located in nucleus. Part of Swr1 complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "acidic nuclear phosphoprotein 32 family member E", "basicGeneticEntity": { "synonyms": [ "LANP-L", "LANP-like protein", "LANPL", "MGC5350", "acidic (leucine-rich) nuclear phosphoprotein 32 family, member E", "acidic leucine-rich nuclear phosphoprotein 32 family member E", "leucine-rich acidic nuclear protein like" ], "secondaryIds": [ "RGD:1321615" ], "genomeLocations": [ { "strand": "-", "endPosition": 150236202, "chromosome": "1", "assembly": "GRCh38", "startPosition": 150218417 } ], "primaryId": "HGNC:16673", "crossReferences": [ { "id": "ENSEMBL:ENSG00000143401" }, { "id": "NCBI_Gene:81611" }, { "id": "PANTHER:PTHR11375" }, { "id": "UniProtKB:Q9BTT0" }, { "pages": [ "gene/references" ], "id": "RGD:1321615" }, { "pages": [ "gene" ], "id": "HGNC:16673" }, { "id": "RGD:1321615" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANPEP", "geneSynopsis": "Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. This membrane-bound zinc metalloprotease is known to serve as a receptor for the HCoV-229E alphacoronavirus as well as other non-human coronaviruses. This gene has also been shown to promote angiogenesis, tumor growth, and metastasis and defects in this gene are associated with various types of leukemia and lymphoma. [provided by RefSeq, Apr 2020]", "soTermId": "SO:0001217", "name": "alanyl aminopeptidase, membrane", "basicGeneticEntity": { "synonyms": [ "AP-M", "AP-N", "APN", "CD13", "GP150", "LAP1", "P150", "PEPN", "alanyl (membrane) aminopeptidase", "alanyl (membrane) aminopeptidase (aminopeptidase N, aminopeptidase M, microsomal aminopeptidase, CD13, p150)", "alanyl aminopeptidase", "aminopeptidase M", "aminopeptidase N", "hAPN", "membrane alanyl aminopeptidase", "microsomal aminopeptidase", "myeloid plasma membrane glycoprotein CD13" ], "secondaryIds": [ "RGD:737099" ], "genomeLocations": [ { "strand": "-", "endPosition": 89815401, "chromosome": "15", "assembly": "GRCh38", "startPosition": 89784875 } ], "primaryId": "HGNC:500", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166825" }, { "id": "NCBI_Gene:290" }, { "id": "PANTHER:PTHR11533" }, { "id": "UniProtKB:P15144" }, { "pages": [ "gene/references" ], "id": "RGD:737099" }, { "pages": [ "gene" ], "id": "HGNC:500" }, { "id": "RGD:737099" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANTKMT", "geneSynopsis": "Enables protein-lysine N-methyltransferase activity. Involved in peptidyl-lysine trimethylation. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "adenine nucleotide translocase lysine methyltransferase", "basicGeneticEntity": { "synonyms": [ "ANT-KMT", "C16orf24", "FAM173A", "MGC2494", "adenine nucleotide translocase lysine N-methyltransferase", "family with sequence similarity 173 member A", "family with sequence similarity 173, member A", "hypothetical protein LOC65990" ], "secondaryIds": [ "RGD:1343313" ], "genomeLocations": [ { "strand": "+", "endPosition": 722590, "chromosome": "16", "assembly": "GRCh38", "startPosition": 720581 } ], "primaryId": "HGNC:14152", "crossReferences": [ { "id": "ENSEMBL:ENSG00000103254" }, { "id": "NCBI_Gene:65990" }, { "id": "PANTHER:PTHR13610" }, { "id": "UniProtKB:Q9BQD7" }, { "pages": [ "gene/references" ], "id": "RGD:1343313" }, { "pages": [ "gene" ], "id": "HGNC:14152" }, { "id": "RGD:1343313" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANTXR1", "geneSynopsis": "This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]", "soTermId": "SO:0001217", "name": "ANTXR cell adhesion molecule 1", "basicGeneticEntity": { "synonyms": [ "2310008J16Rik", "2810405N18Rik", "ATR", "FLJ10601", "FLJ11298", "FLJ21776", "GAPO", "TEM8", "anthrax toxin receptor 1", "tumor endothelial marker 8" ], "secondaryIds": [ "RGD:1316162" ], "genomeLocations": [ { "strand": "+", "endPosition": 69249327, "chromosome": "2", "assembly": "GRCh38", "startPosition": 69013144 } ], "primaryId": "HGNC:21014", "crossReferences": [ { "id": "ENSEMBL:ENSG00000169604" }, { "id": "NCBI_Gene:84168" }, { "id": "PANTHER:PTHR16059" }, { "id": "UniProtKB:Q9H6X2" }, { "pages": [ "gene/references" ], "id": "RGD:1316162" }, { "pages": [ "gene" ], "id": "HGNC:21014" }, { "id": "RGD:1316162" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANTXR2", "geneSynopsis": "This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]", "soTermId": "SO:0001217", "name": "ANTXR cell adhesion molecule 2", "basicGeneticEntity": { "synonyms": [ "CMG-2", "CMG2", "FLJ31074", "HFS", "ISH", "JHF", "MGC111533", "MGC45856", "anthrax toxin receptor 2", "capillary morphogenesis gene 2 protein", "capillary morphogenesis protein 2" ], "secondaryIds": [ "RGD:1346318" ], "genomeLocations": [ { "strand": "-", "endPosition": 80125454, "chromosome": "4", "assembly": "GRCh38", "startPosition": 79901146 } ], "primaryId": "HGNC:21732", "crossReferences": [ { "id": "ENSEMBL:ENSG00000163297" }, { "id": "NCBI_Gene:118429" }, { "id": "PANTHER:PTHR16059" }, { "id": "UniProtKB:P58335" }, { "pages": [ "gene/references" ], "id": "RGD:1346318" }, { "pages": [ "gene" ], "id": "HGNC:21732" }, { "id": "RGD:1346318" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANTXRL", "geneSynopsis": "Predicted to enable transmembrane signaling receptor activity. Predicted to be located in membrane. Predicted to be active in cell surface and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ANTXR like", "basicGeneticEntity": { "synonyms": [ "anthrax toxin receptor like", "anthrax toxin receptor-like" ], "secondaryIds": [ "RGD:1602061" ], "genomeLocations": [ { "strand": "+", "endPosition": 46330727, "chromosome": "10", "assembly": "GRCh38", "startPosition": 46286092 } ], "primaryId": "HGNC:27277", "crossReferences": [ { "id": "ENSEMBL:ENSG00000274209" }, { "id": "NCBI_Gene:195977" }, { "id": "PANTHER:PTHR16059" }, { "id": "UniProtKB:A6NF34" }, { "pages": [ "gene/references" ], "id": "RGD:1602061" }, { "pages": [ "gene" ], "id": "HGNC:27277" }, { "id": "RGD:1602061" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANTXRLP1", "geneSynopsis": "INTERACTS WITH benzo[a]pyrene", "soTermId": "SO:0000336", "name": "ANTXR like pseudogene 1", "basicGeneticEntity": { "synonyms": [ "anthrax toxin receptor-like pseudogene 1" ], "secondaryIds": [ "RGD:7206882" ], "genomeLocations": [ { "strand": "-", "endPosition": 46273557, "chromosome": "10", "assembly": "GRCh38", "startPosition": 46219025 } ], "primaryId": "HGNC:45004", "crossReferences": [ { "id": "ENSEMBL:ENSG00000263482" }, { "id": "NCBI_Gene:100996567" }, { "pages": [ "gene/references" ], "id": "RGD:7206882" }, { "pages": [ "gene" ], "id": "HGNC:45004" }, { "id": "RGD:7206882" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANXA1", "geneSynopsis": "This gene encodes a membrane-localized protein that binds phospholipids. This protein inhibits phospholipase A2 and has anti-inflammatory activity. Loss of function or expression of this gene has been detected in multiple tumors. [provided by RefSeq, Dec 2014]", "soTermId": "SO:0001217", "name": "annexin A1", "basicGeneticEntity": { "synonyms": [ "ANX1", "LPC1", "annexin I (lipocortin I)", "annexin-1", "calpactin II", "calpactin-2", "chromobindin-9", "lipocortin I", "p35", "phospholipase A2 inhibitory protein" ], "secondaryIds": [ "RGD:730873" ], "genomeLocations": [ { "strand": "+", "endPosition": 73170629, "chromosome": "9", "assembly": "GRCh38", "startPosition": 73148874 } ], "primaryId": "HGNC:533", "crossReferences": [ { "id": "ENSEMBL:ENSG00000135046" }, { "id": "NCBI_Gene:301" }, { "id": "PANTHER:PTHR10502" }, { "id": "UniProtKB:P04083" }, { "pages": [ "gene/references" ], "id": "RGD:730873" }, { "pages": [ "gene" ], "id": "HGNC:533" }, { "id": "RGD:730873" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANXA10", "geneSynopsis": "This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "annexin A10", "basicGeneticEntity": { "synonyms": [ "ANX14", "annexin 14", "annexin-10", "annexin-14" ], "secondaryIds": [ "RGD:1318989" ], "genomeLocations": [ { "strand": "+", "endPosition": 168187736, "chromosome": "4", "assembly": "GRCh38", "startPosition": 168092537 } ], "primaryId": "HGNC:534", "crossReferences": [ { "id": "ENSEMBL:ENSG00000109511" }, { "id": "NCBI_Gene:11199" }, { "id": "PANTHER:PTHR10502" }, { "id": "UniProtKB:Q9UJ72" }, { "pages": [ "gene/references" ], "id": "RGD:1318989" }, { "pages": [ "gene" ], "id": "HGNC:534" }, { "id": "RGD:1318989" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANXA10-AS1", "soTermId": "SO:0001263", "name": "ANXA10 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LOC105377524", "uncharacterized LOC105377524" ], "secondaryIds": [ "RGD:38669170" ], "genomeLocations": [ { "strand": "-", "endPosition": 168199047, "chromosome": "4", "assembly": "GRCh38", "startPosition": 168170010 } ], "primaryId": "HGNC:58907", "crossReferences": [ { "id": "NCBI_Gene:105377524" }, { "pages": [ "gene/references" ], "id": "RGD:38669170" }, { "pages": [ "gene" ], "id": "HGNC:58907" }, { "id": "RGD:38669170" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANXA11", "geneSynopsis": "This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, Dec 2015]", "soTermId": "SO:0001217", "name": "annexin A11", "basicGeneticEntity": { "synonyms": [ "56 kDa autoantigen", "ALS23", "ANX11", "CAP-50", "CAP50", "IBMWMA", "annexin XI", "annexin-11", "autoantigen, 56-kD", "calcyclin-associated annexin 50" ], "secondaryIds": [ "RGD:1320510" ], "genomeLocations": [ { "strand": "-", "endPosition": 80205808, "chromosome": "10", "assembly": "GRCh38", "startPosition": 80150889 } ], "primaryId": "HGNC:535", "crossReferences": [ { "id": "ENSEMBL:ENSG00000122359" }, { "id": "NCBI_Gene:311" }, { "id": "PANTHER:PTHR10502" }, { "id": "UniProtKB:P50995" }, { "pages": [ "gene/references" ], "id": "RGD:1320510" }, { "pages": [ "gene" ], "id": "HGNC:535" }, { "id": "RGD:1320510" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANXA13", "geneSynopsis": "This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The specific function of this gene has not yet been determined; however, it is associated with the plasma membrane of undifferentiated, proliferating endothelial cells and differentiated villus enterocytes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "annexin A13", "basicGeneticEntity": { "synonyms": [ "ANX13", "ISA", "MGC150460", "annexin XIII", "annexin, intestine-specific", "annexin-13", "intestine-specific annexin" ], "secondaryIds": [ "RGD:1316801" ], "genomeLocations": [ { "strand": "-", "endPosition": 123737414, "chromosome": "8", "assembly": "GRCh38", "startPosition": 123680794 } ], "primaryId": "HGNC:536", "crossReferences": [ { "id": "ENSEMBL:ENSG00000104537" }, { "id": "NCBI_Gene:312" }, { "id": "PANTHER:PTHR10502" }, { "id": "UniProtKB:P27216" }, { "pages": [ "gene/references" ], "id": "RGD:1316801" }, { "pages": [ "gene" ], "id": "HGNC:536" }, { "id": "RGD:1316801" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANXA2", "geneSynopsis": "This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. Annexin A2 expression has been found to correlate with resistance to treatment against various cancer forms. [provided by RefSeq, Dec 2019]", "soTermId": "SO:0001217", "name": "annexin A2", "basicGeneticEntity": { "synonyms": [ "ANX2", "ANX2L4", "CAL1H", "HEL-S-270", "LIP2", "LPC2", "LPC2D", "P36", "PAP-IV", "annexin II", "annexin-2", "calpactin I heavy chain", "calpactin I heavy polypeptide", "calpactin-1 heavy chain", "chromobindin 8", "chromobindin-8", "epididymis secretory protein Li 270", "lipocortin II", "placental anticoagulant protein IV", "protein I" ], "secondaryIds": [ "RGD:736099" ], "genomeLocations": [ { "strand": "-", "endPosition": 60402883, "chromosome": "15", "assembly": "GRCh38", "startPosition": 60347134 } ], "primaryId": "HGNC:537", "crossReferences": [ { "id": "ENSEMBL:ENSG00000182718" }, { "id": "NCBI_Gene:302" }, { "id": "PANTHER:PTHR10502" }, { "id": "UniProtKB:P07355" }, { "pages": [ "gene/references" ], "id": "RGD:736099" }, { "pages": [ "gene" ], "id": "HGNC:537" }, { "id": "RGD:736099" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANXA2P1", "geneSynopsis": "INTERACTS WITH aflatoxin B1; arsenous acid; bisphenol A", "soTermId": "SO:0000336", "name": "annexin A2 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ANX2L1", "ANX2P1", "LPC2A" ], "secondaryIds": [ "RGD:1346050" ], "genomeLocations": [ { "strand": "-", "endPosition": 153308811, "chromosome": "4", "assembly": "GRCh38", "startPosition": 153307469 } ], "primaryId": "HGNC:538", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213406" }, { "id": "NCBI_Gene:303" }, { "pages": [ "gene/references" ], "id": "RGD:1346050" }, { "pages": [ "gene" ], "id": "HGNC:538" }, { "id": "RGD:1346050" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANXA2P2", "geneSynopsis": "Predicted to enable calcium-dependent phospholipid binding activity and phosphatidylserine binding activity. Predicted to be involved in positive regulation of receptor-mediated endocytosis involved in cholesterol transport. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0000336", "name": "annexin A2 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ANX2L2", "ANX2P2", "LPC2B" ], "secondaryIds": [ "RGD:1347050" ], "genomeLocations": [ { "strand": "+", "endPosition": 33625534, "chromosome": "9", "assembly": "GRCh38", "startPosition": 33624225 } ], "primaryId": "HGNC:539", "crossReferences": [ { "id": "ENSEMBL:ENSG00000231991" }, { "id": "NCBI_Gene:304" }, { "id": "PANTHER:PTHR10502" }, { "id": "UniProtKB:A6NMY6" }, { "pages": [ "gene/references" ], "id": "RGD:1347050" }, { "pages": [ "gene" ], "id": "HGNC:539" }, { "id": "RGD:1347050" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANXA2P3", "geneSynopsis": "INTERACTS WITH 17beta-estradiol; 3-isobutyl-1-methyl-7H-xanthine; arsenous acid", "soTermId": "SO:0000336", "name": "annexin A2 pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ANX2L3", "ANX2P3", "LIP2", "LPC2C" ], "secondaryIds": [ "RGD:1344486" ], "genomeLocations": [ { "strand": "+", "endPosition": 64826877, "chromosome": "10", "assembly": "GRCh38", "startPosition": 64825528 } ], "primaryId": "HGNC:540", "crossReferences": [ { "id": "ENSEMBL:ENSG00000216740" }, { "id": "NCBI_Gene:305" }, { "pages": [ "gene/references" ], "id": "RGD:1344486" }, { "pages": [ "gene" ], "id": "HGNC:540" }, { "id": "RGD:1344486" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANXA2R", "geneSynopsis": "Predicted to enable signaling receptor activity. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "annexin A2 receptor", "basicGeneticEntity": { "synonyms": [ "AX2R", "AXIIR", "C5orf39", "annexin II receptor", "annexin-2 receptor" ], "secondaryIds": [ "RGD:1605501" ], "genomeLocations": [ { "strand": "-", "endPosition": 43043247, "chromosome": "5", "assembly": "GRCh38", "startPosition": 43039233 } ], "primaryId": "HGNC:33463", "crossReferences": [ { "id": "ENSEMBL:ENSG00000177721" }, { "id": "NCBI_Gene:389289" }, { "id": "PANTHER:PTHR38820" }, { "id": "UniProtKB:Q3ZCQ2" }, { "pages": [ "gene/references" ], "id": "RGD:1605501" }, { "pages": [ "gene" ], "id": "HGNC:33463" }, { "id": "RGD:1605501" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANXA2R-AS1", "geneSynopsis": "INTERACTS WITH okadaic acid; sotorasib; trametinib", "soTermId": "SO:0001263", "name": "ANXA2R antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LOC153684", "MGC120598", "uncharacterized LOC153684" ], "secondaryIds": [ "RGD:2292117" ], "genomeLocations": [ { "strand": "+", "endPosition": 43064272, "chromosome": "5", "assembly": "GRCh38", "startPosition": 43040957 } ], "primaryId": "HGNC:27208", "crossReferences": [ { "id": "ENSEMBL:ENSG00000215068" }, { "id": "NCBI_Gene:153684" }, { "pages": [ "gene/references" ], "id": "RGD:2292117" }, { "pages": [ "gene" ], "id": "HGNC:27208" }, { "id": "RGD:2292117" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANXA2R-OT1", "soTermId": "SO:0001263", "name": "ANXA2R overlapping transcript 1", "basicGeneticEntity": { "synonyms": [ "AC025171.1", "ANXA2R overlapping transcript", "LOC648987", "novel transcript, sense overlapping to ANXA2R", "uncharacterized LOC648987" ], "secondaryIds": [ "RGD:16550844" ], "genomeLocations": [ { "strand": "-", "endPosition": 43067492, "chromosome": "5", "assembly": "GRCh38", "startPosition": 42918237 } ], "primaryId": "HGNC:48996", "crossReferences": [ { "id": "ENSEMBL:ENSG00000177738" }, { "id": "NCBI_Gene:648987" }, { "pages": [ "gene/references" ], "id": "RGD:16550844" }, { "pages": [ "gene" ], "id": "HGNC:48996" }, { "id": "RGD:16550844" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANXA3", "geneSynopsis": "This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions in the inhibition of phopholipase A2 and cleavage of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. This protein may also play a role in anti-coagulation. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "annexin A3", "basicGeneticEntity": { "synonyms": [ "35-alpha calcimedin", "ANX3", "Annexin III (lipocortin III)", "PAP-III", "annexin III (lipocortin III, 1,2-cyclic-inositol-phosphate phosphodiesterase, placental anticoagulant protein III, calcimedin 35-alpha)", "annexin-3", "calcimedin 35-alpha", "inositol 1,2-cyclic phosphate 2-phosphohydrolase", "lipocortin III", "placental anticoagulant protein III" ], "secondaryIds": [ "RGD:735865" ], "genomeLocations": [ { "strand": "+", "endPosition": 78610493, "chromosome": "4", "assembly": "GRCh38", "startPosition": 78551621 } ], "primaryId": "HGNC:541", "crossReferences": [ { "id": "ENSEMBL:ENSG00000138772" }, { "id": "NCBI_Gene:306" }, { "id": "PANTHER:PTHR10502" }, { "id": "UniProtKB:P12429" }, { "pages": [ "gene/references" ], "id": "RGD:735865" }, { "pages": [ "gene" ], "id": "HGNC:541" }, { "id": "RGD:735865" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANXA4", "geneSynopsis": "Annexin IV (ANX4) belongs to the annexin family of calcium-dependent phospholipid binding proteins. Although their functions are still not clearly defined, several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. ANX4 has 45 to 59% identity with other members of its family and shares a similar size and exon-intron organization. Isolated from human placenta, ANX4 encodes a protein that has possible interactions with ATP, and has in vitro anticoagulant activity and also inhibits phospholipase A2 activity. ANX4 is almost exclusively expressed in epithelial cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2016]", "soTermId": "SO:0001217", "name": "annexin A4", "basicGeneticEntity": { "synonyms": [ "35-beta calcimedin", "ANX4", "DKFZp686H02120", "HEL-S-274", "MGC75105", "P32.5", "PAP-II", "PIG28", "PP4-X", "ZAP36", "annexin IV (placental anticoagulant protein II)", "annexin-4", "carbohydrate-binding protein p33/p41", "chromobindin-4", "endonexin I", "epididymis secretory protein Li 274", "lipocortin IV", "placental anticoagulant protein II", "proliferation-inducing gene 28", "proliferation-inducing protein 28", "protein II", "zap 36/annexin iv" ], "secondaryIds": [ "RGD:735938" ], "genomeLocations": [ { "strand": "+", "endPosition": 69827121, "chromosome": "2", "assembly": "GRCh38", "startPosition": 69643808 } ], "primaryId": "HGNC:542", "crossReferences": [ { "id": "ENSEMBL:ENSG00000196975" }, { "id": "NCBI_Gene:307" }, { "id": "PANTHER:PTHR10502" }, { "id": "UniProtKB:P09525" }, { "pages": [ "gene/references" ], "id": "RGD:735938" }, { "pages": [ "gene" ], "id": "HGNC:542" }, { "id": "RGD:735938" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANXA5", "geneSynopsis": "The Annexin 5 gene spans 29 kb containing 13 exons, and encodes a single transcript of approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa.The protein encoded by this gene belongs to the annexin family of calcium-dependent phospholipid binding proteins some of which have been implicated in membrane-related events along exocytotic and endocytotic pathways. Annexin 5 is a phospholipase A2 and protein kinase C inhibitory protein with calcium channel activity and a potential role in cellular signal transduction, inflammation, growth and differentiation. Annexin 5 has also been described as placental anticoagulant protein I, vascular anticoagulant-alpha, endonexin II, lipocortin V, placental protein 4 and anchorin CII. Polymorphisms in this gene have been implicated in various obstetric complications. [provided by RefSeq, Dec 2019]", "soTermId": "SO:0001217", "name": "annexin A5", "basicGeneticEntity": { "synonyms": [ "ANX5", "CBP-I", "CPB-I", "ENX2", "HEL-S-7", "PAP-I", "PP4", "RPRGL3", "VAC-alph", "VAC-alpha", "anchorin CII", "annexin 5", "annexin V", "annexin-5", "calphobindin I", "endonexin II", "epididymis secretory protein Li 7", "lipocortin V", "placental anticoagulant protein 4", "placental anticoagulant protein I", "thromboplastin inhibitor", "vascular anticoagulant-alpha" ], "secondaryIds": [ "RGD:734268" ], "genomeLocations": [ { "strand": "-", "endPosition": 121697061, "chromosome": "4", "assembly": "GRCh38", "startPosition": 121667396 } ], "primaryId": "HGNC:543", "crossReferences": [ { "id": "ENSEMBL:ENSG00000164111" }, { "id": "NCBI_Gene:308" }, { "id": "PANTHER:PTHR10502" }, { "id": "UniProtKB:P08758" }, { "pages": [ "gene/references" ], "id": "RGD:734268" }, { "pages": [ "gene" ], "id": "HGNC:543" }, { "id": "RGD:734268" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANXA6", "geneSynopsis": "Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010]", "soTermId": "SO:0001217", "name": "annexin A6", "basicGeneticEntity": { "synonyms": [ "67 kDa calelectrin", "ANX6", "CBP68", "CPB-II", "annexin VI (p68)", "annexin-6", "calcium-binding protein p68", "calelectrin", "calphobindin II", "calphobindin-II", "chromobindin-20", "lipocortin VI", "p68", "p70", "testis secretory sperm-binding protein Li 198a" ], "secondaryIds": [ "RGD:733718" ], "genomeLocations": [ { "strand": "-", "endPosition": 151157815, "chromosome": "5", "assembly": "GRCh38", "startPosition": 151100706 } ], "primaryId": "HGNC:544", "crossReferences": [ { "id": "ENSEMBL:ENSG00000197043" }, { "id": "NCBI_Gene:309" }, { "id": "PANTHER:PTHR10502" }, { "id": "UniProtKB:P08133" }, { "pages": [ "gene/references" ], "id": "RGD:733718" }, { "pages": [ "gene" ], "id": "HGNC:544" }, { "id": "RGD:733718" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANXA7", "geneSynopsis": "Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins.The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA. An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and 2.4 kb which are predicted to generate two protein isoforms differing in their N-terminal domain. The alternative splicing event is tissue specific and the mRNA containing the cassette exon is prevalent in brain, heart and skeletal muscle. The transcripts also differ in their 3'-non coding regions by the use of two alternative poly(A) signals. Annexin VII encodes a protein with a molecular weight of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 amino acids and a conserved C-terminal region of 299 amino acids. The latter domain is composed of alternating hydrophobic and hydrophilic segments. Structural analysis of the protein suggests that Annexin VII is a membrane binding protein with diverse properties, including voltage-sensitive calcium channel activity, ion selectivity and membrane fusion. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "annexin A7", "basicGeneticEntity": { "synonyms": [ "ANX7", "SNX", "SYNEXIN", "annexin VII", "annexin-7" ], "secondaryIds": [ "RGD:731625" ], "genomeLocations": [ { "strand": "-", "endPosition": 73414731, "chromosome": "10", "assembly": "GRCh38", "startPosition": 73375101 } ], "primaryId": "HGNC:545", "crossReferences": [ { "id": "ENSEMBL:ENSG00000138279" }, { "id": "NCBI_Gene:310" }, { "id": "PANTHER:PTHR10502" }, { "id": "UniProtKB:P20073" }, { "pages": [ "gene/references" ], "id": "RGD:731625" }, { "pages": [ "gene" ], "id": "HGNC:545" }, { "id": "RGD:731625" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANXA8", "geneSynopsis": "This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "annexin A8", "basicGeneticEntity": { "synonyms": [ "ANX8", "ANXA8L1", "ANXA8L2", "CH17-360D5.2", "FLJ32754", "VAC beta", "VAC-beta", "annexin A8 like 1", "annexin A8-like 1", "annexin A8-like 2", "annexin A8-like protein 1", "annexin A8-like protein 2", "annexin A8L2", "annexin VIII", "annexin-8", "bA145E20.2", "bA301J7.3", "vascular anticoagulant-beta" ], "secondaryIds": [ "RGD:1317074" ], "genomeLocations": [ { "strand": "-", "endPosition": 47991796, "chromosome": "10", "assembly": "GRCh38", "startPosition": 47460162 } ], "primaryId": "HGNC:546", "crossReferences": [ { "id": "ENSEMBL:ENSG00000264230" }, { "id": "ENSEMBL:ENSG00000265190" }, { "id": "NCBI_Gene:653145" }, { "id": "PANTHER:PTHR10502" }, { "id": "UniProtKB:P13928" }, { "pages": [ "gene/references" ], "id": "RGD:1317074" }, { "pages": [ "gene" ], "id": "HGNC:546" }, { "id": "RGD:1317074" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANXA8L1", "geneSynopsis": "This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. [provided by RefSeq, Apr 2014]", "soTermId": "SO:0001217", "name": "annexin A8 like 1", "basicGeneticEntity": { "synonyms": [ "ANXA8", "ANXA8L2", "VAC-beta", "annexin A8-like protein 1", "annexin A8-like protein 2", "annexin A8L2", "annexin VIII", "annexin-8", "bA145E20.2", "bA301J7.3", "vascular anticoagulant-beta" ], "secondaryIds": [ "RGD:407446943" ], "genomeLocations": [ { "strand": "+", "endPosition": 46391784, "chromosome": "10", "assembly": "GRCh38", "startPosition": 46375587 } ], "primaryId": "HGNC:23334", "crossReferences": [ { "id": "ENSEMBL:ENSG00000265190" }, { "id": "ENSEMBL:ENSG00000264230" }, { "id": "NCBI_Gene:728113" }, { "id": "PANTHER:PTHR10502" }, { "id": "UniProtKB:Q5VT79" }, { "id": "UniProtKB:P13928" }, { "pages": [ "gene/references" ], "id": "RGD:407446943" }, { "pages": [ "gene" ], "id": "HGNC:23334" }, { "id": "RGD:407446943" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ANXA9", "geneSynopsis": "The annexins are a family of calcium-dependent phospholipid-binding proteins. Members of the annexin family contain 4 internal repeat domains, each of which includes a type II calcium-binding site. The calcium-binding sites are required for annexins to aggregate and cooperatively bind anionic phospholipids and extracellular matrix proteins. This gene encodes a divergent member of the annexin protein family in which all four homologous type II calcium-binding sites in the conserved tetrad core contain amino acid substitutions that ablate their function. However, structural analysis suggests that the conserved putative ion channel formed by the tetrad core is intact. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "annexin A9", "basicGeneticEntity": { "synonyms": [ "ANX31", "annexin 31", "annexin XXXI", "annexin-31", "annexin-9", "pemphaxin" ], "secondaryIds": [ "RGD:1352405" ], "genomeLocations": [ { "strand": "+", "endPosition": 150996077, "chromosome": "1", "assembly": "GRCh38", "startPosition": 150977306 } ], "primaryId": "HGNC:547", "crossReferences": [ { "id": "ENSEMBL:ENSG00000143412" }, { "id": "NCBI_Gene:8416" }, { "id": "PANTHER:PTHR10502" }, { "id": "UniProtKB:O76027" }, { "pages": [ "gene/references" ], "id": "RGD:1352405" }, { "pages": [ "gene" ], "id": "HGNC:547" }, { "id": "RGD:1352405" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AOAH", "geneSynopsis": "This locus encodes both the light and heavy subunits of acyloxyacyl hydrolase. The encoded enzyme catalyzes the hydrolysis of acyloxylacyl-linked fatty acyl chains from bacterial lipopolysaccharides, effectively detoxifying these molecules. The encoded protein may play a role in modulating host inflammatory response to gram-negative bacteria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Apr 2010]", "soTermId": "SO:0001217", "name": "acyloxyacyl hydrolase", "basicGeneticEntity": { "synonyms": [ "acyloxyacyl hydrolase (neutrophil)" ], "secondaryIds": [ "RGD:1352932" ], "genomeLocations": [ { "strand": "-", "endPosition": 36724549, "chromosome": "7", "assembly": "GRCh38", "startPosition": 36509308 } ], "primaryId": "HGNC:548", "crossReferences": [ { "id": "ENSEMBL:ENSG00000136250" }, { "id": "NCBI_Gene:313" }, { "id": "PANTHER:PTHR15010" }, { "id": "UniProtKB:P28039" }, { "pages": [ "gene/references" ], "id": "RGD:1352932" }, { "pages": [ "gene" ], "id": "HGNC:548" }, { "id": "RGD:1352932" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AOAH-IT1", "geneSynopsis": "INTERACTS WITH GSK-J4", "soTermId": "SO:0001263", "name": "AOAH intronic transcript 1", "basicGeneticEntity": { "synonyms": [ "AC087069.1" ], "secondaryIds": [ "RGD:6481095" ], "genomeLocations": [ { "strand": "-", "endPosition": 36600120, "chromosome": "7", "assembly": "GRCh38", "startPosition": 36597834 } ], "primaryId": "HGNC:41307", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230539" }, { "id": "NCBI_Gene:100874264" }, { "pages": [ "gene/references" ], "id": "RGD:6481095" }, { "pages": [ "gene" ], "id": "HGNC:41307" }, { "id": "RGD:6481095" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AOC1", "geneSynopsis": "This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]", "soTermId": "SO:0001217", "name": "amine oxidase copper containing 1", "basicGeneticEntity": { "synonyms": [ "ABP", "ABP1", "DAO", "DAO1", "KAO", "KDAO", "amiloride binding protein 1", "amiloride binding protein 1 (amine oxidase (copper-containing))", "amiloride-binding protein 1", "amiloride-binding protein-1", "amiloride-sensitive amine oxidase", "amiloride-sensitive amine oxidase [copper-containing]", "amine oxidase copper domain-containing protein 1", "amine oxidase, copper containing 1", "diamine oxidase", "diamine oxidase [copper-containing]", "histaminase", "kidney amine oxidase" ], "secondaryIds": [ "RGD:732341" ], "genomeLocations": [ { "strand": "+", "endPosition": 150861504, "chromosome": "7", "assembly": "GRCh38", "startPosition": 150824627 } ], "primaryId": "HGNC:80", "crossReferences": [ { "id": "ENSEMBL:ENSG00000002726" }, { "id": "NCBI_Gene:26" }, { "id": "PANTHER:PTHR10638" }, { "id": "UniProtKB:P19801" }, { "pages": [ "gene/references" ], "id": "RGD:732341" }, { "pages": [ "gene" ], "id": "HGNC:80" }, { "id": "RGD:732341" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AOC2", "geneSynopsis": "Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "amine oxidase copper containing 2", "basicGeneticEntity": { "synonyms": [ "DAO2", "RAO", "SSAO", "amine oxidase [copper-containing] 2", "amine oxidase, copper containing 2", "amine oxidase, copper containing 2 (retina-specific)", "retina-specific copper amine oxidase", "semicarbazide-sensitive amine oxidase" ], "secondaryIds": [ "RGD:1344698" ], "genomeLocations": [ { "strand": "+", "endPosition": 42850707, "chromosome": "17", "assembly": "GRCh38", "startPosition": 42844580 } ], "primaryId": "HGNC:549", "crossReferences": [ { "id": "ENSEMBL:ENSG00000131480" }, { "id": "NCBI_Gene:314" }, { "id": "PANTHER:PTHR10638" }, { "id": "UniProtKB:O75106" }, { "pages": [ "gene/references" ], "id": "RGD:1344698" }, { "pages": [ "gene" ], "id": "HGNC:549" }, { "id": "RGD:1344698" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AOC3", "geneSynopsis": "This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell surface, has adhesive properties as well as monoamine oxidase activity, and may be involved in leukocyte trafficking. Alterations in levels of the encoded protein may be associated with many diseases, including diabetes mellitus. A pseudogene of this gene has been described and is located approximately 9-kb downstream on the same chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]", "soTermId": "SO:0001217", "name": "amine oxidase copper containing 3", "basicGeneticEntity": { "synonyms": [ "HPAO", "SSAO", "VAP-1", "VAP1", "amine oxidase [copper-containing] 3", "amine oxidase, copper containing 3", "amine oxidase, copper containing 3 (vascular adhesion protein 1)", "copper amine oxidase", "membrane primary amine oxidase", "placenta copper monamine oxidase", "semicarbazide-sensitive amine oxidase", "vascular adhesion protein 1", "vascular adhesion protein 1 splice variant 2, VAP-1A3" ], "secondaryIds": [ "RGD:1347849" ], "genomeLocations": [ { "strand": "+", "endPosition": 42858130, "chromosome": "17", "assembly": "GRCh38", "startPosition": 42851184 } ], "primaryId": "HGNC:550", "crossReferences": [ { "id": "ENSEMBL:ENSG00000131471" }, { "id": "NCBI_Gene:8639" }, { "id": "PANTHER:PTHR10638" }, { "id": "UniProtKB:Q16853" }, { "pages": [ "gene/references" ], "id": "RGD:1347849" }, { "pages": [ "gene" ], "id": "HGNC:550" }, { "id": "RGD:1347849" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AOC4P", "geneSynopsis": "ASSOCIATED WITH Experimental Neoplasms; Lung Neoplasms; Neoplasm Invasiveness; INTERACTS WITH aristolochic acid A; benzo[a]pyrene; bisphenol A", "soTermId": "SO:0000336", "name": "amine oxidase copper containing 4, pseudogene", "basicGeneticEntity": { "synonyms": [ "AOC4", "UPAT", "amine oxidase, copper containing 4, pseudogene" ], "secondaryIds": [ "RGD:7247040" ], "genomeLocations": [ { "strand": "+", "endPosition": 42874369, "chromosome": "17", "assembly": "GRCh38", "startPosition": 42865922 } ], "primaryId": "HGNC:48869", "crossReferences": [ { "id": "ENSEMBL:ENSG00000291070" }, { "id": "ENSEMBL:ENSG00000260105" }, { "id": "NCBI_Gene:90586" }, { "pages": [ "gene/references" ], "id": "RGD:7247040" }, { "pages": [ "gene" ], "id": "HGNC:48869" }, { "id": "RGD:7247040" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AOPEP", "geneSynopsis": "This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]", "soTermId": "SO:0001217", "name": "aminopeptidase O (putative)", "basicGeneticEntity": { "synonyms": [ "AP-O", "APO", "C90RF3", "C9orf3", "DYT31", "FLJ14675", "FLJ40923", "FLJ55832", "ONPEP", "aminopeptidase O", "chromosome 9 open reading frame 3" ], "secondaryIds": [ "RGD:1320010" ], "genomeLocations": [ { "strand": "+", "endPosition": 95151793, "chromosome": "9", "assembly": "GRCh38", "startPosition": 94726604 } ], "primaryId": "HGNC:1361", "crossReferences": [ { "id": "ENSEMBL:ENSG00000148120" }, { "id": "NCBI_Gene:84909" }, { "id": "PANTHER:PTHR46627" }, { "id": "UniProtKB:Q8N6M6" }, { "pages": [ "gene/references" ], "id": "RGD:1320010" }, { "pages": [ "gene" ], "id": "HGNC:1361" }, { "id": "RGD:1320010" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AOPEP-AS1", "soTermId": "SO:0001263", "name": "AOPEP antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LOC101928119", "uncharacterized LOC101928119" ], "secondaryIds": [ "RGD:38672636" ], "genomeLocations": [ { "strand": "-", "endPosition": 94945554, "chromosome": "9", "assembly": "GRCh38", "startPosition": 94927020 } ], "primaryId": "HGNC:58217", "crossReferences": [ { "id": "NCBI_Gene:101928119" }, { "pages": [ "gene/references" ], "id": "RGD:38672636" }, { "pages": [ "gene" ], "id": "HGNC:58217" }, { "id": "RGD:38672636" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AOX1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "aldehyde oxidase 1", "basicGeneticEntity": { "synonyms": [ "AO", "AOH1", "aldehyde oxidase", "azaheterocycle hydroxylase" ], "secondaryIds": [ "RGD:733539" ], "genomeLocations": [ { "strand": "+", "endPosition": 200682241, "chromosome": "2", "assembly": "GRCh38", "startPosition": 200585864 } ], "primaryId": "HGNC:553", "crossReferences": [ { "id": "ENSEMBL:ENSG00000138356" }, { "id": "NCBI_Gene:316" }, { "id": "PANTHER:PTHR45444" }, { "id": "UniProtKB:Q06278" }, { "pages": [ "gene/references" ], "id": "RGD:733539" }, { "pages": [ "gene" ], "id": "HGNC:553" }, { "id": "RGD:733539" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AOX2P", "geneSynopsis": "INTERACTS WITH (+)-catechin; aflatoxin B1; benzo[a]pyrene", "soTermId": "SO:0000336", "name": "aldehyde oxidase 2, pseudogene", "basicGeneticEntity": { "synonyms": [ "AOH2", "AOX2", "AOX3L1", "aldehyde oxidase 2 pseudogene" ], "secondaryIds": [ "RGD:1603491" ], "genomeLocations": [ { "strand": "+", "endPosition": 200791636, "chromosome": "2", "assembly": "GRCh38", "startPosition": 200738608 } ], "primaryId": "HGNC:18450", "crossReferences": [ { "id": "ENSEMBL:ENSG00000243478" }, { "id": "NCBI_Gene:344454" }, { "pages": [ "gene/references" ], "id": "RGD:1603491" }, { "pages": [ "gene" ], "id": "HGNC:18450" }, { "id": "RGD:1603491" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AOX3P", "geneSynopsis": "Predicted to enable aldehyde oxidase activity; electron transfer activity; and molybdenum ion binding activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0000336", "name": "aldehyde oxidase 3, pseudogene", "basicGeneticEntity": { "synonyms": [ "AOH1", "AOX3" ], "secondaryIds": [ "RGD:10755376" ], "genomeLocations": [ { "strand": "+", "endPosition": 200738781, "chromosome": "2", "assembly": "GRCh38", "startPosition": 200678233 } ], "primaryId": "HGNC:19049", "crossReferences": [ { "id": "ENSEMBL:ENSG00000244301" }, { "id": "NCBI_Gene:107126360" }, { "pages": [ "gene/references" ], "id": "RGD:10755376" }, { "pages": [ "gene" ], "id": "HGNC:19049" }, { "id": "RGD:10755376" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AOX3P-AOX2P", "geneSynopsis": "This locus represents naturally-occurring readthrough transcription between two unprocessed unitary pseudogenes, AOX3P (aldehyde oxidase 3, pseudogene) and AOX2P (aldehyde oxidase 2 pseudogene). The individual pseudogene loci are not curated as transcribed regions. Readthrough transcripts contains disrupted open reading frames, relative to functional homologs, and likely do not encode functional proteins. [provided by RefSeq, Jan 2016]", "soTermId": "SO:0000336", "name": "AOX3P-AOX2P readthrough, transcribed pseudogene", "basicGeneticEntity": { "synonyms": [ "AOX3/AOX3L1" ], "secondaryIds": [ "RGD:13442324" ], "genomeLocations": [ { "strand": "+", "endPosition": 200794915, "chromosome": "2", "assembly": "GRCh38", "startPosition": 200695723 } ], "primaryId": "HGNC:53766", "crossReferences": [ { "id": "ENSEMBL:ENSG00000284084" }, { "id": "NCBI_Gene:107161151" }, { "pages": [ "gene/references" ], "id": "RGD:13442324" }, { "pages": [ "gene" ], "id": "HGNC:53766" }, { "id": "RGD:13442324" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP1AR", "geneSynopsis": "Enables AP-1 adaptor complex binding activity and kinesin binding activity. Involved in negative regulation of receptor recycling and vesicle targeting, trans-Golgi to endosome. Acts upstream of or within negative regulation of substrate adhesion-dependent cell spreading. Located in Golgi apparatus and transport vesicle. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 1 associated regulatory protein", "basicGeneticEntity": { "synonyms": [ "2C18", "AP-1 complex-associated regulatory protein", "C4orf16", "GBAR", "PRO0971", "adapter-related protein complex 1-associated regulatory protein", "gadkin", "gamma-1-adaptin brefeldin A resistance protein", "gamma-A1-adaptin and kinesin interactor", "gamma-BAR", "gamma1-adaptin brefeldin A resistance protein, gamma-BAR" ], "secondaryIds": [ "RGD:1347570" ], "genomeLocations": [ { "strand": "+", "endPosition": 112273110, "chromosome": "4", "assembly": "GRCh38", "startPosition": 112231363 } ], "primaryId": "HGNC:28808", "crossReferences": [ { "id": "ENSEMBL:ENSG00000138660" }, { "id": "NCBI_Gene:55435" }, { "id": "PANTHER:PTHR34529" }, { "id": "UniProtKB:Q63HQ0" }, { "pages": [ "gene/references" ], "id": "RGD:1347570" }, { "pages": [ "gene" ], "id": "HGNC:28808" }, { "id": "RGD:1347570" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP1AR-DT", "soTermId": "SO:0001263", "name": "AP1AR divergent transcript", "basicGeneticEntity": { "secondaryIds": [ "RGD:40903031" ], "genomeLocations": [ { "strand": "-", "endPosition": 112232150, "chromosome": "4", "assembly": "GRCh38", "startPosition": 112229561 } ], "primaryId": "HGNC:55391", "crossReferences": [ { "id": "NCBI_Gene:119863862" }, { "pages": [ "gene/references" ], "id": "RGD:40903031" }, { "pages": [ "gene" ], "id": "HGNC:55391" }, { "id": "RGD:40903031" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP1B1", "geneSynopsis": "Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 1 subunit beta 1", "basicGeneticEntity": { "synonyms": [ "ADTB1", "ADTB1, CLAPB2", "AP-1 complex subunit beta-1", "AP105A", "BAM22", "CLAPB2", "Golgi adaptor HA1/AP1 adaptin beta subunit", "KIDAR", "adapter-related protein complex 1 subunit beta-1", "adaptor protein complex AP-1 subunit beta-1", "adaptor related protein complex 1 beta 1 subunit", "adaptor-related protein complex 1 beta 1 subunit", "adaptor-related protein complex 1 subunit beta-1", "adaptor-related protein complex 1, beta 1 subunit", "beta-1-adaptin", "beta-adaptin 1", "beta-prime-adaptin", "beta1-adaptin", "clathrin assembly protein complex 1 beta large chain", "plasma membrane adaptor HA2/AP2 adaptor beta subunit" ], "secondaryIds": [ "RGD:1350470" ], "genomeLocations": [ { "strand": "-", "endPosition": 29388612, "chromosome": "22", "assembly": "GRCh38", "startPosition": 29327680 } ], "primaryId": "HGNC:554", "crossReferences": [ { "id": "ENSEMBL:ENSG00000100280" }, { "id": "NCBI_Gene:162" }, { "id": "PANTHER:PTHR11134" }, { "id": "UniProtKB:Q10567" }, { "pages": [ "gene/references" ], "id": "RGD:1350470" }, { "pages": [ "gene" ], "id": "HGNC:554" }, { "id": "RGD:1350470" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP1B1P1", "geneSynopsis": "INTERACTS WITH methylisothiazolinone", "soTermId": "SO:0000336", "name": "AP1B1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ADTB1L1", "adaptor related protein complex 1 beta 1 subunit pseudogene 1", "dJ127L4.2" ], "secondaryIds": [ "RGD:1347850" ], "genomeLocations": [ { "strand": "+", "endPosition": 32143398, "chromosome": "22", "assembly": "GRCh38", "startPosition": 32121931 } ], "primaryId": "HGNC:297", "crossReferences": [ { "id": "ENSEMBL:ENSG00000290475" }, { "id": "ENSEMBL:ENSG00000234479" }, { "id": "NCBI_Gene:23782" }, { "pages": [ "gene/references" ], "id": "RGD:1347850" }, { "pages": [ "gene" ], "id": "HGNC:297" }, { "id": "RGD:1347850" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP1B1P2", "soTermId": "SO:0000336", "name": "AP1B1 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ADTB1L2", "adaptor related protein complex 1 beta 1 subunit pseudogene 2", "dJ127L4.3" ], "secondaryIds": [ "RGD:1350660" ], "genomeLocations": [ { "strand": "+", "endPosition": 32134133, "chromosome": "22", "assembly": "GRCh38", "startPosition": 32134028 } ], "primaryId": "HGNC:298", "crossReferences": [ { "id": "ENSEMBL:ENSG00000232707" }, { "id": "NCBI_Gene:23781" }, { "pages": [ "gene/references" ], "id": "RGD:1350660" }, { "pages": [ "gene" ], "id": "HGNC:298" }, { "id": "RGD:1350660" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP1G1", "geneSynopsis": "Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 1 subunit gamma 1", "basicGeneticEntity": { "synonyms": [ "ADTG", "AP-1 complex subunit gamma-1", "CLAPG1", "MGC18255", "USRISD", "adapter-related protein complex 1 subunit gamma-1", "adaptor protein complex AP-1 subunit gamma-1", "adaptor related protein complex 1 gamma 1 subunit", "adaptor-related protein complex 1 gamma 1 subunit", "adaptor-related protein complex 1 subunit gamma-1", "adaptor-related protein complex 1, gamma 1 subunit", "clathrin assembly protein complex 1 gamma large chain", "clathrin assembly protein complex 1 gamma-1 large chain", "clathrin-associated/assembly/adaptor protein, large, gamma 1", "gamma adaptin", "gamma1-adaptin", "golgi adaptor HA1/AP1 adaptin gamma subunit", "golgi adaptor HA1/AP1 adaptin subunit gamma-1", "testicular tissue protein Li 21" ], "secondaryIds": [ "RGD:1346195" ], "genomeLocations": [ { "strand": "-", "endPosition": 71809201, "chromosome": "16", "assembly": "GRCh38", "startPosition": 71729000 } ], "primaryId": "HGNC:555", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166747" }, { "id": "NCBI_Gene:164" }, { "id": "PANTHER:PTHR22780" }, { "id": "UniProtKB:O43747" }, { "pages": [ "gene/references" ], "id": "RGD:1346195" }, { "pages": [ "gene" ], "id": "HGNC:555" }, { "id": "RGD:1346195" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP1G2", "geneSynopsis": "Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. This protein along with the complex is thought to function at some trafficking step in the complex pathways between the trans-Golgi network and the cell surface. [provided by RefSeq, Aug 2017]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 1 subunit gamma 2", "basicGeneticEntity": { "synonyms": [ "AP-1 complex subunit gamma-like 2", "G2AD", "adaptor related protein complex 1 gamma 2 subunit", "adaptor-related protein complex 1 gamma 2 subunit", "adaptor-related protein complex 1, gamma 2 subunit", "clathrin-associated/assembly/adaptor protein, large, gamma-2", "gamma2-adaptin" ], "secondaryIds": [ "RGD:1313902" ], "genomeLocations": [ { "strand": "-", "endPosition": 23568070, "chromosome": "14", "assembly": "GRCh38", "startPosition": 23559557 } ], "primaryId": "HGNC:556", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213983" }, { "id": "NCBI_Gene:8906" }, { "id": "PANTHER:PTHR22780" }, { "id": "UniProtKB:O75843" }, { "pages": [ "gene/references" ], "id": "RGD:1313902" }, { "pages": [ "gene" ], "id": "HGNC:556" }, { "id": "RGD:1313902" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP1G2-AS1", "soTermId": "SO:0001263", "name": "AP1G2 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AL135999.1", "LOC102724814", "novel transcript, antisense to AP1G2", "uncharacterized LOC102724814" ], "secondaryIds": [ "RGD:16561819" ], "genomeLocations": [ { "strand": "+", "endPosition": 23568237, "chromosome": "14", "assembly": "GRCh38", "startPosition": 23561097 } ], "primaryId": "HGNC:55442", "crossReferences": [ { "id": "ENSEMBL:ENSG00000258727" }, { "id": "NCBI_Gene:102724814" }, { "pages": [ "gene/references" ], "id": "RGD:16561819" }, { "pages": [ "gene" ], "id": "HGNC:55442" }, { "id": "RGD:16561819" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP1M1", "geneSynopsis": "The protein encoded by this gene is the medium chain of the trans-Golgi network clathrin-associated protein complex AP-1. The other components of this complex are beta-prime-adaptin, gamma-adaptin, and the small chain AP1S1. This complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 1 subunit mu 1", "basicGeneticEntity": { "synonyms": [ "AP-1 complex subunit mu-1", "AP-mu chain family member mu1A", "AP47", "CLAPM2", "CLTNM", "HA1 47 kDa subunit", "MU-1A", "adapter-related protein complex 1 subunit mu-1", "adaptor protein complex AP-1 mu-1 subunit", "adaptor protein complex AP-1 subunit mu-1", "adaptor related protein complex 1 mu 1 subunit", "adaptor-related protein complex 1 mu 1 subunit", "adaptor-related protein complex 1 mu-1 subunit", "adaptor-related protein complex 1 subunit mu-1", "adaptor-related protein complex 1, mu 1 subunit", "clathrin adaptor protein AP47", "clathrin assembly protein complex 1 medium chain 1", "clathrin assembly protein complex 1 mu-1 medium chain 1", "clathrin assembly protein complex 1, medium chain", "clathrin assembly protein complex AP1, mu subunit", "clathrin coat assembly protein AP47", "clathrin coat-associated protein AP47", "golgi adaptor AP-1 47 kDa protein", "golgi adaptor HA1/AP1 adaptin mu-1 subunit", "mu-adaptin 1", "mu1A", "mu1A-adaptin" ], "secondaryIds": [ "RGD:1316969" ], "genomeLocations": [ { "strand": "+", "endPosition": 16245906, "chromosome": "19", "assembly": "GRCh38", "startPosition": 16197854 } ], "primaryId": "HGNC:13667", "crossReferences": [ { "id": "ENSEMBL:ENSG00000072958" }, { "id": "NCBI_Gene:8907" }, { "id": "PANTHER:PTHR10529" }, { "id": "UniProtKB:Q9BXS5" }, { "pages": [ "gene/references" ], "id": "RGD:1316969" }, { "pages": [ "gene" ], "id": "HGNC:13667" }, { "id": "RGD:1316969" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP1M2", "geneSynopsis": "This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 1 subunit mu 2", "basicGeneticEntity": { "synonyms": [ "AP-1 complex subunit mu-2", "AP-mu chain family member mu1B", "AP1-mu2", "HA1 47 kDa subunit 2", "HSMU1B", "MU-1B", "MU1B", "adaptor protein complex AP-1 mu-2 subunit", "adaptor protein complex AP-1 subunit mu-2", "adaptor related protein complex 1 mu 2 subunit", "adaptor-related protein complex 1 mu 2 subunit", "adaptor-related protein complex 1 mu-2 subunit", "adaptor-related protein complex 1 subunit mu-2", "adaptor-related protein complex 1, mu 2 subunit", "clathrin assembly protein complex 1 medium chain 2", "clathrin assembly protein complex 1 mu-2 medium chain 2", "clathrin coat assembly protein AP47 2", "clathrin coat associated protein AP47 2", "clathrin-associated adaptor medium chain mu2", "golgi adaptor AP-1 47 kDa protein", "golgi adaptor HA1/AP1 adaptin mu-2 subunit", "mu-adaptin 2", "mu1B-adaptin", "mu2" ], "secondaryIds": [ "RGD:1354372" ], "genomeLocations": [ { "strand": "-", "endPosition": 10587315, "chromosome": "19", "assembly": "GRCh38", "startPosition": 10572670 } ], "primaryId": "HGNC:558", "crossReferences": [ { "id": "ENSEMBL:ENSG00000129354" }, { "id": "NCBI_Gene:10053" }, { "id": "PANTHER:PTHR10529" }, { "id": "UniProtKB:Q9Y6Q5" }, { "pages": [ "gene/references" ], "id": "RGD:1354372" }, { "pages": [ "gene" ], "id": "HGNC:558" }, { "id": "RGD:1354372" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP1M2P1", "soTermId": "SO:0000336", "name": "AP1M2 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "Z83841.1", "adaptor-related protein complex 1 (AP1M2) pseudogene" ], "secondaryIds": [ "RGD:27096013" ], "genomeLocations": [ { "strand": "+", "endPosition": 65470579, "chromosome": "X", "assembly": "GRCh38", "startPosition": 65469085 } ], "primaryId": "HGNC:54978", "crossReferences": [ { "id": "ENSEMBL:ENSG00000227534" }, { "id": "NCBI_Gene:645388" }, { "pages": [ "gene/references" ], "id": "RGD:27096013" }, { "pages": [ "gene" ], "id": "HGNC:54978" }, { "id": "RGD:27096013" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP1S1", "geneSynopsis": "The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 1 subunit sigma 1", "basicGeneticEntity": { "synonyms": [ "AP-1 complex subunit sigma-1A", "AP19", "CLAPS1", "EKV3", "FLJ92436", "HA1 19 kDa subunit", "MEDNIK", "SIGMA1A", "WUGSC:H_DJ0747G18.2", "adapter-related protein complex 1 sigma-1A subunit", "adapter-related protein complex 1 subunit sigma-1A", "adaptor protein complex AP-1 sigma-1A subunit", "adaptor protein complex AP-1 subunit sigma-1A", "adaptor related protein complex 1 sigma 1 subunit", "adaptor-related protein complex 1 sigma 1 subunit", "adaptor-related protein complex 1 subunit sigma-1A", "adaptor-related protein complex 1, sigma 1 subunit", "clathrin assembly protein complex 1 sigma-1A small chain", "clathrin coat assembly protein AP19", "clathrin-associated/assembly/adaptor protein, small 1 (19kD)", "erythrokeratodermia variabilis 3 (Kamouraska type)", "golgi adaptor HA1/AP1 adaptin sigma-1A subunit", "sigma 1a subunit of AP-1 clathrin", "sigma-adaptin 1A", "sigma1A subunit of AP-1 clathrin adaptor complex", "sigma1A-adaptin" ], "secondaryIds": [ "RGD:1314226" ], "genomeLocations": [ { "strand": "+", "endPosition": 101161596, "chromosome": "7", "assembly": "GRCh38", "startPosition": 101154352 } ], "primaryId": "HGNC:559", "crossReferences": [ { "id": "ENSEMBL:ENSG00000106367" }, { "id": "NCBI_Gene:1174" }, { "id": "PANTHER:PTHR11753" }, { "id": "UniProtKB:P61966" }, { "pages": [ "gene/references" ], "id": "RGD:1314226" }, { "pages": [ "gene" ], "id": "HGNC:559" }, { "id": "RGD:1314226" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP1S2", "geneSynopsis": "Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 1 subunit sigma 2", "basicGeneticEntity": { "synonyms": [ "AP-1 complex subunit sigma-2", "DC22", "MGC:1902", "MRX59", "MRXS21", "MRXS5", "MRXSF", "PGS", "Pettigrew X-linked mental retardation syndrome", "SIGMA1B", "adapter-related protein complex 1 sigma-1B subunit", "adapter-related protein complex 1 subunit sigma-1B", "adaptor protein complex AP-1 sigma-1B subunit", "adaptor protein complex AP-1 subunit sigma-1B", "adaptor related protein complex 1 sigma 2 subunit", "adaptor-related protein complex 1 sigma 2 subunit", "adaptor-related protein complex 1 subunit sigma-1B", "adaptor-related protein complex 1, sigma 2 subunit", "clathrin adaptor complex AP1 sigma 1B subunit", "clathrin assembly protein complex 1 sigma-1B small chain", "clathrin-associated/assembly/adaptor protein small 1-like", "golgi adaptor HA1/AP1 adaptin sigma 1B subunit", "golgi adaptor HA1/AP1 adaptin sigma-1B subunit", "mental retardation, X-linked 59", "mental retardation, X-linked, syndromic 5", "sigma 1B subunit of AP-1 clathrin", "sigma-adaptin 1B", "sigma1B-adaptin" ], "secondaryIds": [ "RGD:1348501" ], "genomeLocations": [ { "strand": "-", "endPosition": 15854931, "chromosome": "X", "assembly": "GRCh38", "startPosition": 15825806 } ], "primaryId": "HGNC:560", "crossReferences": [ { "id": "ENSEMBL:ENSG00000182287" }, { "id": "NCBI_Gene:8905" }, { "id": "PANTHER:PTHR11753" }, { "id": "UniProtKB:P56377" }, { "pages": [ "gene/references" ], "id": "RGD:1348501" }, { "pages": [ "gene" ], "id": "HGNC:560" }, { "id": "RGD:1348501" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP1S2P1", "soTermId": "SO:0000336", "name": "AP1S2 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "adaptor related protein complex 1 sigma 2 subunit pseudogene 1" ], "secondaryIds": [ "RGD:10400766" ], "genomeLocations": [ { "strand": "+", "endPosition": 97438190, "chromosome": "7", "assembly": "GRCh38", "startPosition": 97437518 } ], "primaryId": "HGNC:50752", "crossReferences": [ { "id": "ENSEMBL:ENSG00000226046" }, { "id": "NCBI_Gene:106480305" }, { "pages": [ "gene/references" ], "id": "RGD:10400766" }, { "pages": [ "gene" ], "id": "HGNC:50752" }, { "id": "RGD:10400766" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP1S2P2", "soTermId": "SO:0000336", "name": "AP1S2 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "AC025048.6", "LOC653653", "adaptor related protein complex 1 sigma 2 subunit pseudogene", "adaptor-related protein complex 1, sigma 2 subunit (AP1S2) pseudogene" ], "secondaryIds": [ "RGD:16569915" ], "genomeLocations": [ { "strand": "-", "endPosition": 60102919, "chromosome": "17", "assembly": "GRCh38", "startPosition": 60101759 } ], "primaryId": "HGNC:59189", "crossReferences": [ { "id": "ENSEMBL:ENSG00000293358" }, { "id": "ENSEMBL:ENSG00000280852" }, { "id": "NCBI_Gene:653653" }, { "pages": [ "gene/references" ], "id": "RGD:16569915" }, { "pages": [ "gene" ], "id": "HGNC:59189" }, { "id": "RGD:16569915" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP1S3", "geneSynopsis": "This gene encodes a member of the adaptor-related protein complex 1, sigma subunit genes. The encoded protein is a component of adaptor protein complex 1 (AP-1), one of the AP complexes involved in claathrin-mediated vesicular transport from the Golgi or endosomes. Disruption of the pathway for display of HIV-1 antigens, which prevents recognition of the virus by cytotoxic T cells, has been shown to involve the AP-1 complex (PMID: 15569716). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 1 subunit sigma 3", "basicGeneticEntity": { "synonyms": [ "AP-1 complex subunit sigma-3", "PSORS15", "adapter-related protein complex 1 sigma-1C subunit", "adapter-related protein complex 1 subunit sigma-1C", "adaptor protein complex AP-1 sigma-1C subunit", "adaptor protein complex AP-1 subunit sigma-1C", "adaptor related protein complex 1 sigma 3 subunit", "adaptor-related protein complex 1 sigma 3 subunit", "adaptor-related protein complex 1 subunit sigma-1C", "adaptor-related protein complex 1, sigma 3 subunit", "clathrin assembly protein complex 1 sigma-1C small chain", "golgi adaptor HA1/AP1 adaptin sigma-1C subunit", "sigma 1C adaptin", "sigma 1C subunit of AP-1 clathrin", "sigma-adaptin 1C", "sigma1C", "sigma1C-adaptin" ], "secondaryIds": [ "RGD:1323403" ], "genomeLocations": [ { "strand": "-", "endPosition": 223838027, "chromosome": "2", "assembly": "GRCh38", "startPosition": 223667680 } ], "primaryId": "HGNC:18971", "crossReferences": [ { "id": "ENSEMBL:ENSG00000152056" }, { "id": "NCBI_Gene:130340" }, { "id": "PANTHER:PTHR11753" }, { "id": "UniProtKB:Q96PC3" }, { "pages": [ "gene/references" ], "id": "RGD:1323403" }, { "pages": [ "gene" ], "id": "HGNC:18971" }, { "id": "RGD:1323403" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP2A1", "geneSynopsis": "This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 2 subunit alpha 1", "basicGeneticEntity": { "synonyms": [ "100 kDa coated vesicle protein A", "ADTAA", "AP-2 complex subunit alpha-1", "AP2-ALPHA", "CLAPA1", "adapter-related protein complex 2 alpha-1 subunit", "adapter-related protein complex 2 subunit alpha-1", "adaptin, alpha A", "adaptor protein complex AP-2 subunit alpha-1", "adaptor related protein complex 2 alpha 1 subunit", "adaptor related protein complex 2, alpha 1 subunit", "adaptor-related protein complex 2 subunit alpha-1", "adaptor-related protein complex 2, alpha 1 subunit", "alpha-adaptin A", "alpha1-adaptin", "clathrin assembly protein complex 2 alpha-A large chain", "clathrin-associated/assembly/adaptor protein, large, alpha 1", "plasma membrane adaptor HA2/AP2 adaptin alpha A subunit" ], "secondaryIds": [ "RGD:1314769" ], "genomeLocations": [ { "strand": "+", "endPosition": 49807114, "chromosome": "19", "assembly": "GRCh38", "startPosition": 49766990 } ], "primaryId": "HGNC:561", "crossReferences": [ { "id": "ENSEMBL:ENSG00000196961" }, { "id": "NCBI_Gene:160" }, { "id": "PANTHER:PTHR22780" }, { "id": "UniProtKB:O95782" }, { "pages": [ "gene/references" ], "id": "RGD:1314769" }, { "pages": [ "gene" ], "id": "HGNC:561" }, { "id": "RGD:1314769" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP2A2", "geneSynopsis": "The protein encoded by this gene is a subunit of the AP-2 adaptor protein complex, which is involved in linking lipid and protein membrane components with the clathrin lattice. This interaction supports the formation of clathrin-coated vesicles, and the encoded subunit aids in the process by binding polyphosphoinositide-containing lipids in the cell membrane. [provided by RefSeq, Nov 2016]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 2 subunit alpha 2", "basicGeneticEntity": { "synonyms": [ "100 kDa coated vesicle protein C", "ADTAB", "AP-2 complex subunit alpha-2", "CLAPA2", "FLJ37177", "HIP-9", "HIP9", "HYPJ", "Huntingtin interacting protein J", "adapter-related protein complex 2 alpha-2 subunit", "adapter-related protein complex 2 subunit alpha-2", "adaptin, alpha B", "adaptor protein complex AP-2 subunit alpha-2", "adaptor protein complex ap-2, alpha 2 subunit", "adaptor related protein complex 2 alpha 2 subunit", "adaptor related protein complex 2, alpha 2 subunit", "adaptor-related protein complex 2 subunit alpha-2", "adaptor-related protein complex 2, alpha 2 subunit", "alpha-adaptin C", "alpha2-adaptin", "clathrin assembly protein complex 2 alpha-C large chain", "clathrin-associated/assembly/adaptor protein, large, alpha 2", "huntingtin yeast partner J", "huntingtin-interacting protein 9", "huntingtin-interacting protein J", "plasma membrane adaptor HA2/AP2 adaptin alpha C subunit" ], "secondaryIds": [ "RGD:735567" ], "genomeLocations": [ { "strand": "+", "endPosition": 1012245, "chromosome": "11", "assembly": "GRCh38", "startPosition": 924881 } ], "primaryId": "HGNC:562", "crossReferences": [ { "id": "ENSEMBL:ENSG00000183020" }, { "id": "NCBI_Gene:161" }, { "id": "PANTHER:PTHR22780" }, { "id": "UniProtKB:O94973" }, { "pages": [ "gene/references" ], "id": "RGD:735567" }, { "pages": [ "gene" ], "id": "HGNC:562" }, { "id": "RGD:735567" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP2B1", "geneSynopsis": "The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 2 subunit beta 1", "basicGeneticEntity": { "synonyms": [ "ADTB2", "AP-2 complex subunit beta", "AP105B", "AP2-BETA", "CLAPB1", "DKFZp781K0743", "adapter-related protein complex 2 beta subunit", "adapter-related protein complex 2 subunit beta", "adaptin, beta 2 (beta)", "adaptor protein complex AP-2 subunit beta", "adaptor related protein complex 2 beta 1 subunit", "adaptor related protein complex 2, beta 1 subunit", "adaptor-related protein complex 2 subunit beta", "adaptor-related protein complex 2, beta 1 subunit", "beta-2-adaptin", "beta-adaptin", "beta2-adaptin", "clathrin assembly protein complex 2 beta large chain", "clathrin-associated/assembly/adaptor protein, large, beta 1", "plasma membrane adaptor HA2/AP2 adaptin beta subunit", "testicular tissue protein Li 22" ], "secondaryIds": [ "RGD:734047" ], "genomeLocations": [ { "strand": "+", "endPosition": 35726417, "chromosome": "17", "assembly": "GRCh38", "startPosition": 35578046 } ], "primaryId": "HGNC:563", "crossReferences": [ { "id": "ENSEMBL:ENSG00000006125" }, { "id": "NCBI_Gene:163" }, { "id": "PANTHER:PTHR11134" }, { "id": "UniProtKB:P63010" }, { "pages": [ "gene/references" ], "id": "RGD:734047" }, { "pages": [ "gene" ], "id": "HGNC:563" }, { "id": "RGD:734047" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP2B1P1", "soTermId": "SO:0000336", "name": "AP2B1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AL359263.1", "adaptor-related protein complex 2, beta 1 subunit (AP2B1) pseudogene" ], "secondaryIds": [ "RGD:27226864" ], "genomeLocations": [ { "strand": "-", "endPosition": 93225129, "chromosome": "X", "assembly": "GRCh38", "startPosition": 93222021 } ], "primaryId": "HGNC:55017", "crossReferences": [ { "id": "ENSEMBL:ENSG00000234130" }, { "id": "NCBI_Gene:401602" }, { "pages": [ "gene/references" ], "id": "RGD:27226864" }, { "pages": [ "gene" ], "id": "HGNC:55017" }, { "id": "RGD:27226864" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP2M1", "geneSynopsis": "This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 2 subunit mu 1", "basicGeneticEntity": { "synonyms": [ "AP-2 complex subunit mu", "AP-2 mu 2 chain", "AP-2 mu chain", "AP50", "CLAPM1", "HA2 50 kDA subunit", "MRD60", "adapter-related protein complex 2 mu subunit", "adapter-related protein complex 2 subunit mu", "adaptin-mu2", "adaptor protein complex AP-2 subunit mu", "adaptor related protein complex 2 mu 1 subunit", "adaptor related protein complex 2, mu 1 subunit", "adaptor-related protein complex 2 subunit mu", "adaptor-related protein complex 2, mu 1 subunit", "clathrin adaptor complex AP2, mu subunit", "clathrin assembly protein complex 2 medium chain", "clathrin assembly protein complex 2 mu medium chain", "clathrin coat adaptor protein AP50", "clathrin coat assembly protein AP50", "clathrin coat-associated protein AP50", "clathrin-associated/assembly/adaptor protein, medium 1", "mu2", "plasma membrane adaptor AP-2 50 kDa protein", "plasma membrane adaptor AP-2 50kDA protein" ], "secondaryIds": [ "RGD:1350921" ], "genomeLocations": [ { "strand": "+", "endPosition": 184184214, "chromosome": "3", "assembly": "GRCh38", "startPosition": 184174689 } ], "primaryId": "HGNC:564", "crossReferences": [ { "id": "ENSEMBL:ENSG00000161203" }, { "id": "NCBI_Gene:1173" }, { "id": "PANTHER:PTHR10529" }, { "id": "UniProtKB:Q96CW1" }, { "pages": [ "gene/references" ], "id": "RGD:1350921" }, { "pages": [ "gene" ], "id": "HGNC:564" }, { "id": "RGD:1350921" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP2S1", "geneSynopsis": "One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 2 subunit sigma 1", "basicGeneticEntity": { "synonyms": [ "AP-2 complex subunit sigma", "AP17", "AP17-DELTA", "CLAPS2", "FBH3", "FBHOk", "HA2 17 kDa subunit", "HHC3", "adapter-related protein complex 2 sigma subunit", "adapter-related protein complex 2 subunit sigma", "adaptor protein complex AP-2 subunit sigma", "adaptor related protein complex 2 sigma 1 subunit", "adaptor-related protein complex 2 sigma 1 subunit", "adaptor-related protein complex 2 subunit sigma", "adaptor-related protein complex 2, sigma 1 subunit", "clathrin assembly protein 2 sigma small chain", "clathrin assembly protein 2 small chain", "clathrin coat assembly protein AP17", "clathrin coat-associated protein AP17", "clathrin-associated/assembly/adaptor protein, small 2 (17kD)", "hypocalciuric hypercalcemia 3 (Oklahoma type)", "plasma membrane adaptor AP-2 17 kDa protein", "sigma-2", "sigma2-adaptin" ], "secondaryIds": [ "RGD:732482" ], "genomeLocations": [ { "strand": "-", "endPosition": 46850882, "chromosome": "19", "assembly": "GRCh38", "startPosition": 46838136 } ], "primaryId": "HGNC:565", "crossReferences": [ { "id": "ENSEMBL:ENSG00000042753" }, { "id": "NCBI_Gene:1175" }, { "id": "PANTHER:PTHR11753" }, { "id": "UniProtKB:P53680" }, { "pages": [ "gene/references" ], "id": "RGD:732482" }, { "pages": [ "gene" ], "id": "HGNC:565" }, { "id": "RGD:732482" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP3B1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 3 subunit beta 1", "basicGeneticEntity": { "synonyms": [ "ADTB3", "ADTB3A", "AP-3 complex beta-3A subunit", "AP-3 complex subunit beta-1", "HPS", "HPS2", "PE", "adapter-related protein complex 3 subunit beta-1", "adaptor protein complex AP-3 subunit beta-1", "adaptor related protein complex 3 beta 1 subunit", "adaptor related protein complex 3, beta 1 subunit", "adaptor-related protein complex 3 subunit beta-1", "adaptor-related protein complex 3, beta 1 subunit", "beta-3A", "beta-3A-adaptin", "beta3A-adaptin", "clathrin assembly protein complex 3 beta-1 large chain" ], "secondaryIds": [ "RGD:1321051" ], "genomeLocations": [ { "strand": "-", "endPosition": 78294762, "chromosome": "5", "assembly": "GRCh38", "startPosition": 77991640 } ], "primaryId": "HGNC:566", "crossReferences": [ { "id": "ENSEMBL:ENSG00000132842" }, { "id": "NCBI_Gene:8546" }, { "id": "PANTHER:PTHR11134" }, { "id": "UniProtKB:O00203" }, { "pages": [ "gene/references" ], "id": "RGD:1321051" }, { "pages": [ "gene" ], "id": "HGNC:566" }, { "id": "RGD:1321051" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP3B2", "geneSynopsis": "Adaptor protein complex 3 (AP-3 complex) is a heterotrimeric protein complex involved in the formation of clathrin-coated synaptic vesicles. The protein encoded by this gene represents the beta subunit of the neuron-specific AP-3 complex and was first identified as the target antigen in human paraneoplastic neurologic disorders. The encoded subunit binds clathrin and is phosphorylated by a casein kinase-like protein, which mediates synaptic vesicle coat assembly. Defects in this gene are a cause of early-onset epileptic encephalopathy. [provided by RefSeq, Feb 2017]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 3 subunit beta 2", "basicGeneticEntity": { "synonyms": [ "AP-3 complex subunit beta-2", "DEE48", "DKFZp686D17136", "EIEE48", "NAPTB", "Neuronal adaptin-like protein, beta-subunit", "adapter-related protein complex 3 subunit beta-2", "adaptor protein complex AP-3 subunit beta-2", "adaptor related protein complex 3 beta 2 subunit", "adaptor related protein complex 3, beta 2 subunit", "adaptor-related protein complex 3 subunit beta-2", "adaptor-related protein complex 3, beta 2 subunit", "beta-3B-adaptin", "clathrin assembly protein complex 3 beta-2 large chain", "neuron-specific vesicle coat protein beta-NAP" ], "secondaryIds": [ "RGD:1319021" ], "genomeLocations": [ { "strand": "-", "endPosition": 82710112, "chromosome": "15", "assembly": "GRCh38", "startPosition": 82659281 } ], "primaryId": "HGNC:567", "crossReferences": [ { "id": "ENSEMBL:ENSG00000103723" }, { "id": "NCBI_Gene:8120" }, { "id": "PANTHER:PTHR11134" }, { "id": "UniProtKB:Q13367" }, { "pages": [ "gene/references" ], "id": "RGD:1319021" }, { "pages": [ "gene" ], "id": "HGNC:567" }, { "id": "RGD:1319021" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP3D1", "geneSynopsis": "The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Defects in this gene are a cause of a new type of Hermansky-Pudlak syndrome. [provided by RefSeq, Feb 2017]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 3 subunit delta 1", "basicGeneticEntity": { "synonyms": [ "ADTD", "AP-3 complex delta subunit, partial CDS", "AP-3 complex subunit delta", "AP-3 complex subunit delta-1", "HPS10", "adapter-related protein complex 3 subunit delta-1", "adaptin, delta", "adaptor related protein complex 3 delta 1 subunit", "adaptor related protein complex 3, delta 1 subunit", "adaptor-related protein complex 3 subunit delta-1", "adaptor-related protein complex 3, delta 1 subunit", "delta adaptin", "delta-adaptin, partial CDS", "hBLVR", "subunit of putative vesicle coat adaptor complex AP-3" ], "secondaryIds": [ "RGD:1318559" ], "genomeLocations": [ { "strand": "-", "endPosition": 2164616, "chromosome": "19", "assembly": "GRCh38", "startPosition": 2100982 } ], "primaryId": "HGNC:568", "crossReferences": [ { "id": "ENSEMBL:ENSG00000065000" }, { "id": "NCBI_Gene:8943" }, { "id": "PANTHER:PTHR22781" }, { "id": "UniProtKB:O14617" }, { "pages": [ "gene/references" ], "id": "RGD:1318559" }, { "pages": [ "gene" ], "id": "HGNC:568" }, { "id": "RGD:1318559" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP3M1", "geneSynopsis": "The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane, and it may directly function in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2016]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 3 subunit mu 1", "basicGeneticEntity": { "synonyms": [ "AP-3 adapter complex mu3A subunit", "AP-3 adaptor complex mu3A subunit", "AP-3 complex subunit mu-1", "MGC22164", "RP11-178G16.4", "adapter-related protein complex 3 mu-1 subunit", "adapter-related protein complex 3 subunit mu-1", "adaptor related protein complex 3 mu 1 subunit", "adaptor related protein complex 3, mu 1 subunit", "adaptor-related protein complex 3 subunit mu-1", "adaptor-related protein complex 3, mu 1 subunit", "adaptor-related protein complex ap-3, mu 1 subunit", "clathrin adaptor complex AP3, mu-3A subunit", "mu-adaptin 3A", "mu3A-adaptin" ], "secondaryIds": [ "RGD:734238" ], "genomeLocations": [ { "strand": "-", "endPosition": 74151055, "chromosome": "10", "assembly": "GRCh38", "startPosition": 74120255 } ], "primaryId": "HGNC:569", "crossReferences": [ { "id": "ENSEMBL:ENSG00000185009" }, { "id": "NCBI_Gene:26985" }, { "id": "PANTHER:PTHR10529" }, { "id": "UniProtKB:Q9Y2T2" }, { "pages": [ "gene/references" ], "id": "RGD:734238" }, { "pages": [ "gene" ], "id": "HGNC:569" }, { "id": "RGD:734238" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP3M2", "geneSynopsis": "This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2008]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 3 subunit mu 2", "basicGeneticEntity": { "synonyms": [ "AP-3 complex subunit mu-2", "AP47B", "CLA20", "HA1 47 kDa subunit homolog 2", "HA1 47kDA subunit homolog 2", "P47B", "adapter-related protein complex 3 mu-2 subunit", "adapter-related protein complex 3 subunit mu-2", "adaptor related protein complex 3 mu 2 subunit", "adaptor related protein complex 3, mu 2 subunit", "adaptor-related protein complex 3 subunit mu-2", "adaptor-related protein complex 3, mu 2 subunit", "clathrin assembly protein assembly protein complex 1 medium chain homolog 2", "clathrin assembly protein assembly protein complex 3 mu-2 medium chain", "clathrin coat assembly protein AP47 homolog 2", "clathrin coat-associated protein AP47 homolog 2", "clathrin-associated protein AP47 homolog 2", "golgi adaptor AP-1 47 kDA protein homolog 2", "mu3B-adaptin" ], "secondaryIds": [ "RGD:735940" ], "genomeLocations": [ { "strand": "+", "endPosition": 42171673, "chromosome": "8", "assembly": "GRCh38", "startPosition": 42152946 } ], "primaryId": "HGNC:570", "crossReferences": [ { "id": "ENSEMBL:ENSG00000070718" }, { "id": "NCBI_Gene:10947" }, { "id": "PANTHER:PTHR10529" }, { "id": "UniProtKB:P53677" }, { "pages": [ "gene/references" ], "id": "RGD:735940" }, { "pages": [ "gene" ], "id": "HGNC:570" }, { "id": "RGD:735940" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP3S1", "geneSynopsis": "This gene encodes a subunit of the AP3 adaptor complex. This complex functions in the formation of subcellular vesicles budded from the Golgi body. Several related pseudogenes of this gene have been found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 3 subunit sigma 1", "basicGeneticEntity": { "synonyms": [ "AP-3 complex sigma-3A subunit", "AP-3 complex subunit sigma-1", "AP-3 complex subunit sigma-3A", "CLAPS3", "Sigma3A", "adapter-related protein complex 3 sigma-1 subunit", "adapter-related protein complex 3 subunit sigma-1", "adaptor related protein complex 3 sigma 1 subunit", "adaptor related protein complex 3, sigma 1 subunit", "adaptor-related protein complex 3 subunit sigma-1", "clathrin adaptor complex AP3, sigma-3A subunit", "clathrin-associated/assembly/adapter protein, small 3", "clathrin-associated/assembly/adaptor protein, small 3 (22kD)", "sigma-3A-adaptin", "sigma-adaptin 3a", "sigma3A-adaptin" ], "secondaryIds": [ "RGD:1322400" ], "genomeLocations": [ { "strand": "+", "endPosition": 115914086, "chromosome": "5", "assembly": "GRCh38", "startPosition": 115841422 } ], "primaryId": "HGNC:2013", "crossReferences": [ { "id": "ENSEMBL:ENSG00000177879" }, { "id": "NCBI_Gene:1176" }, { "id": "PANTHER:PTHR11753" }, { "id": "UniProtKB:Q92572" }, { "pages": [ "gene/references" ], "id": "RGD:1322400" }, { "pages": [ "gene" ], "id": "HGNC:2013" }, { "id": "RGD:1322400" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP3S1P1", "soTermId": "SO:0000336", "name": "AP3S1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "LOC100289381", "adaptor related protein complex 3 subunit sigma 1 pseudogene" ], "secondaryIds": [ "RGD:38607946" ], "genomeLocations": [ { "strand": "-", "endPosition": 24751631, "chromosome": "6", "assembly": "GRCh38", "startPosition": 24750477 } ], "primaryId": "HGNC:56914", "crossReferences": [ { "id": "ENSEMBL:ENSG00000218806" }, { "id": "NCBI_Gene:100289381" }, { "pages": [ "gene/references" ], "id": "RGD:38607946" }, { "pages": [ "gene" ], "id": "HGNC:56914" }, { "id": "RGD:38607946" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP3S1P2", "soTermId": "SO:0000336", "name": "AP3S1 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "LOC643454", "adaptor related protein complex 3 sigma 1 subunit pseudogene", "adaptor related protein complex 3 subunit sigma 1 pseudogene" ], "secondaryIds": [ "RGD:38603604" ], "genomeLocations": [ { "strand": "-", "endPosition": 214483479, "chromosome": "1", "assembly": "GRCh38", "startPosition": 214482219 } ], "primaryId": "HGNC:58492", "crossReferences": [ { "id": "NCBI_Gene:643454" }, { "pages": [ "gene/references" ], "id": "RGD:38603604" }, { "pages": [ "gene" ], "id": "HGNC:58492" }, { "id": "RGD:38603604" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP3S1P3", "soTermId": "SO:0000336", "name": "AP3S1 pseudogene 3", "basicGeneticEntity": { "synonyms": [ "LOC107001063", "adaptor related protein complex 3 subunit sigma 1 pseudogene" ], "secondaryIds": [ "RGD:38602467" ], "genomeLocations": [ { "strand": "-", "endPosition": 12452675, "chromosome": "12", "assembly": "GRCh38", "startPosition": 12451067 } ], "primaryId": "HGNC:58493", "crossReferences": [ { "id": "NCBI_Gene:107001063" }, { "pages": [ "gene/references" ], "id": "RGD:38602467" }, { "pages": [ "gene" ], "id": "HGNC:58493" }, { "id": "RGD:38602467" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP3S2", "geneSynopsis": "Predicted to be involved in anterograde synaptic vesicle transport and vesicle-mediated transport. Located in intracellular membrane-bounded organelle. Part of AP-3 adaptor complex. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 3 subunit sigma 2", "basicGeneticEntity": { "synonyms": [ "AP-3 complex sigma-3B subunit", "AP-3 complex subunit sigma-2", "AP-3 complex subunit sigma-3B", "AP3S3", "FLJ35955", "adapter-related protein complex 3 sigma-2 subunit", "adapter-related protein complex 3 subunit sigma-2", "adaptor complex sigma3B", "adaptor related protein complex 3 sigma 2 subunit", "adaptor related protein complex 3, sigma 2 subunit", "adaptor-related protein complex 3 subunit sigma-2", "adaptor-related protein complex 3, sigma 2 subunit", "clathrin-associated/assembly/adaptor protein, small 4, 22-kD", "sigma-3B-adaptin", "sigma-adaptin 3b", "sigma3B-adaptin", "sigma3b" ], "secondaryIds": [ "RGD:1350010" ], "genomeLocations": [ { "strand": "-", "endPosition": 89894638, "chromosome": "15", "assembly": "GRCh38", "startPosition": 89830599 } ], "primaryId": "HGNC:571", "crossReferences": [ { "id": "ENSEMBL:ENSG00000157823" }, { "id": "NCBI_Gene:10239" }, { "id": "PANTHER:PTHR11753" }, { "id": "UniProtKB:P59780" }, { "pages": [ "gene/references" ], "id": "RGD:1350010" }, { "pages": [ "gene" ], "id": "HGNC:571" }, { "id": "RGD:1350010" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP4B1", "geneSynopsis": "This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 4 subunit beta 1", "basicGeneticEntity": { "synonyms": [ "AP-4 adapter complex subunit beta", "AP-4 adaptor complex subunit beta", "AP-4 complex subunit beta-1", "BETA-4", "CPSQ5", "SPG47", "adapter-related protein complex 4 subunit beta-1", "adaptor related protein complex 4 beta 1 subunit", "adaptor related protein complex 4, beta 1 subunit", "adaptor-related protein complex 4 subunit beta-1", "adaptor-related protein complex 4, beta 1 subunit", "beta 4 subunit of AP-4", "beta subunit of AP-4", "beta4-adaptin", "spastic paraplegia 47" ], "secondaryIds": [ "RGD:1321485" ], "genomeLocations": [ { "strand": "-", "endPosition": 113905722, "chromosome": "1", "assembly": "GRCh38", "startPosition": 113894194 } ], "primaryId": "HGNC:572", "crossReferences": [ { "id": "ENSEMBL:ENSG00000134262" }, { "id": "NCBI_Gene:10717" }, { "id": "PANTHER:PTHR11134" }, { "id": "UniProtKB:Q9Y6B7" }, { "pages": [ "gene/references" ], "id": "RGD:1321485" }, { "pages": [ "gene" ], "id": "HGNC:572" }, { "id": "RGD:1321485" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP4B1-AS1", "geneSynopsis": "ASSOCIATED WITH hereditary spastic paraplegia; INTERACTS WITH Aflatoxin B2 alpha; GSK-J4", "soTermId": "SO:0001263", "name": "AP4B1 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "RP5-1073O3.5" ], "secondaryIds": [ "RGD:6767156" ], "genomeLocations": [ { "strand": "+", "endPosition": 113901237, "chromosome": "1", "assembly": "GRCh38", "startPosition": 113812379 } ], "primaryId": "HGNC:44114", "crossReferences": [ { "id": "ENSEMBL:ENSG00000226167" }, { "id": "NCBI_Gene:100287722" }, { "pages": [ "gene/references" ], "id": "RGD:6767156" }, { "pages": [ "gene" ], "id": "HGNC:44114" }, { "id": "RGD:6767156" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP4E1", "geneSynopsis": "This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 4 subunit epsilon 1", "basicGeneticEntity": { "synonyms": [ "AP-4 adapter complex subunit epsilon", "AP-4 adaptor complex subunit epsilon", "AP-4 complex subunit epsilon-1", "AP-4-EPSILON", "CPSQ4", "DKFZp686L12167", "SPG51", "STUT1", "adapter-related protein complex 4 subunit epsilon-1", "adaptor related protein complex 4 epsilon 1 subunit", "adaptor related protein complex 4, epsilon 1 subunit", "adaptor-related protein complex 4 subunit epsilon-1", "adaptor-related protein complex 4, epsilon 1 subunit", "adaptor-related protein complex AP-4 epsilon", "epsilon subunit of AP-4", "epsilon-adaptin" ], "secondaryIds": [ "RGD:1343936" ], "genomeLocations": [ { "strand": "+", "endPosition": 51005895, "chromosome": "15", "assembly": "GRCh38", "startPosition": 50907492 } ], "primaryId": "HGNC:573", "crossReferences": [ { "id": "ENSEMBL:ENSG00000081014" }, { "id": "NCBI_Gene:23431" }, { "id": "PANTHER:PTHR22780" }, { "id": "UniProtKB:Q9UPM8" }, { "pages": [ "gene/references" ], "id": "RGD:1343936" }, { "pages": [ "gene" ], "id": "HGNC:573" }, { "id": "RGD:1343936" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP4M1", "geneSynopsis": "This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 4 subunit mu 1", "basicGeneticEntity": { "synonyms": [ "AP-4 adaptor complex mu subunit", "AP-4 complex subunit mu-1", "CPSQ3", "MU-4", "MU-ARP2", "SPG50", "adapter-related protein complex 4 mu-1 subunit", "adapter-related protein complex 4 subunit mu-1", "adaptor related protein complex 4 mu 1 subunit", "adaptor related protein complex 4, mu 1 subunit", "adaptor-related protein complex 4 subunit mu-1", "adaptor-related protein complex 4, mu 1 subunit", "adaptor-related protein complex AP-4 mu4 subunit", "mu subunit of AP-4", "mu-adaptin-related protein 2", "mu-adaptin-related protein-2", "mu4", "mu4-adaptin" ], "secondaryIds": [ "RGD:1321015" ], "genomeLocations": [ { "strand": "+", "endPosition": 100110345, "chromosome": "7", "assembly": "GRCh38", "startPosition": 100100794 } ], "primaryId": "HGNC:574", "crossReferences": [ { "id": "ENSEMBL:ENSG00000221838" }, { "id": "NCBI_Gene:9179" }, { "id": "PANTHER:PTHR10529" }, { "id": "UniProtKB:O00189" }, { "pages": [ "gene/references" ], "id": "RGD:1321015" }, { "pages": [ "gene" ], "id": "HGNC:574" }, { "id": "RGD:1321015" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP4S1", "geneSynopsis": "This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 4 subunit sigma 1", "basicGeneticEntity": { "synonyms": [ "AP-4 adapter complex subunit sigma-1", "AP-4 adaptor complex subunit sigma-1", "AP-4 complex subunit sigma-1", "AP47B", "CLA20", "CLAPS4", "CPSQ6", "FLJ32366", "FLJ41011", "SPG52", "adapter-related protein complex 4 subunit sigma-1", "adaptor related protein complex 4 sigma 1 subunit", "adaptor related protein complex 4, sigma 1 subunit", "adaptor-related protein complex 4 subunit sigma-1", "adaptor-related protein complex 4, sigma 1 subunit", "clathrin-associated/assembly/adaptor protein, sigma 4", "sigma-1 subunit of AP-4", "sigma-4-adaptin", "sigma4-adaptin" ], "secondaryIds": [ "RGD:1348189" ], "genomeLocations": [ { "strand": "+", "endPosition": 31130996, "chromosome": "14", "assembly": "GRCh38", "startPosition": 31024996 } ], "primaryId": "HGNC:575", "crossReferences": [ { "id": "ENSEMBL:ENSG00000100478" }, { "id": "NCBI_Gene:11154" }, { "id": "PANTHER:PTHR11753" }, { "id": "UniProtKB:Q9Y587" }, { "pages": [ "gene/references" ], "id": "RGD:1348189" }, { "pages": [ "gene" ], "id": "HGNC:575" }, { "id": "RGD:1348189" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP5B1", "geneSynopsis": "Involved in endosomal transport. Located in lysosomal membrane. Part of AP-type membrane coat adaptor complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 5 subunit beta 1", "basicGeneticEntity": { "synonyms": [ "AP-5", "AP-5 complex subunit beta", "AP-5 complex subunit beta-1", "DKFZp761E198", "PP1030", "adapter-related protein complex 5 beta subunit", "adaptor protein 5", "adaptor related protein complex 5 beta 1 subunit", "adaptor related protein complex 5, beta 1 subunit", "adaptor-related protein complex 5", "adaptor-related protein complex 5 beta subunit", "adaptor-related protein complex 5, beta 1 subunit", "beta-5", "beta5", "hypothetical protein LOC91056", "uncharacterized DKFZp761E198", "uncharacterized protein DKFZp761E198" ], "secondaryIds": [ "RGD:1606994" ], "genomeLocations": [ { "strand": "-", "endPosition": 65780976, "chromosome": "11", "assembly": "GRCh38", "startPosition": 65773898 } ], "primaryId": "HGNC:25104", "crossReferences": [ { "id": "ENSEMBL:ENSG00000254470" }, { "id": "NCBI_Gene:91056" }, { "id": "PANTHER:PTHR34033" }, { "id": "UniProtKB:Q2VPB7" }, { "pages": [ "gene/references" ], "id": "RGD:1606994" }, { "pages": [ "gene" ], "id": "HGNC:25104" }, { "id": "RGD:1606994" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP5M1", "geneSynopsis": "Involved in endosomal transport. Located in several cellular components, including cytosol; late endosome; and lysosome. Part of AP-type membrane coat adaptor complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 5 subunit mu 1", "basicGeneticEntity": { "synonyms": [ "AP-5 complex subunit mu", "AP-5 complex subunit mu-1", "C14orf108", "FLJ10813", "MHD domain-containing death-inducing protein", "MU-2/AP1M2 domain containing, death-inducing", "MUDENG", "Mu-2 related death-inducing", "Mu5", "MuD", "adapter-related protein complex 5 mu subunit", "adapter-related protein complex 5 subunit mu-1", "adaptor related protein complex 5 mu 1 subunit", "adaptor related protein complex 5, mu 1 subunit", "adaptor-related protein complex 5 subunit mu-1", "adaptor-related protein complex 5, mu 1 subunit", "mu-2-related death-inducing protein", "putative HIV-1 infection-related protein" ], "secondaryIds": [ "RGD:1317656" ], "genomeLocations": [ { "strand": "+", "endPosition": 57298742, "chromosome": "14", "assembly": "GRCh38", "startPosition": 57268504 } ], "primaryId": "HGNC:20192", "crossReferences": [ { "id": "ENSEMBL:ENSG00000053770" }, { "id": "NCBI_Gene:55745" }, { "id": "PANTHER:PTHR16082" }, { "id": "UniProtKB:Q9H0R1" }, { "pages": [ "gene/references" ], "id": "RGD:1317656" }, { "pages": [ "gene" ], "id": "HGNC:20192" }, { "id": "RGD:1317656" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP5S1", "geneSynopsis": "Involved in double-strand break repair via homologous recombination and endosomal transport. Located in several cellular components, including late endosome; lysosome; and nucleoplasm. Part of AP-type membrane coat adaptor complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 5 subunit sigma 1", "basicGeneticEntity": { "synonyms": [ "AP-5 complex subunit sigma-1", "C20orf29", "FLJ11168", "adapter-related protein complex 5 sigma subunit", "adaptor related protein complex 5 sigma 1 subunit", "adaptor related protein complex 5, sigma 1 subunit", "adaptor-related protein complex 5 sigma subunit", "adaptor-related protein complex 5, sigma 1 subunit", "hypothetical protein LOC55317", "sigma5" ], "secondaryIds": [ "RGD:1345016" ], "genomeLocations": [ { "strand": "+", "endPosition": 3828838, "chromosome": "20", "assembly": "GRCh38", "startPosition": 3811384 } ], "primaryId": "HGNC:15875", "crossReferences": [ { "id": "ENSEMBL:ENSG00000125843" }, { "id": "NCBI_Gene:55317" }, { "id": "PANTHER:PTHR16120" }, { "id": "UniProtKB:Q9NUS5" }, { "pages": [ "gene/references" ], "id": "RGD:1345016" }, { "pages": [ "gene" ], "id": "HGNC:15875" }, { "id": "RGD:1345016" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AP5Z1", "geneSynopsis": "This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011]", "soTermId": "SO:0001217", "name": "adaptor related protein complex 5 subunit zeta 1", "basicGeneticEntity": { "synonyms": [ "AP-5 complex subunit zeta-1", "KIAA0415", "SPG48", "adapter-related protein complex 5 zeta subunit", "adaptor related protein complex 5 zeta 1 subunit", "adaptor related protein complex 5, zeta 1 subunit", "adaptor-related protein complex 5 zeta subunit", "adaptor-related protein complex 5, zeta 1 subunit", "hypothetical protein LOC9907", "zeta", "zeta5" ], "secondaryIds": [ "RGD:1626268" ], "genomeLocations": [ { "strand": "+", "endPosition": 4794397, "chromosome": "7", "assembly": "GRCh38", "startPosition": 4775615 } ], "primaryId": "HGNC:22197", "crossReferences": [ { "id": "ENSEMBL:ENSG00000242802" }, { "id": "NCBI_Gene:9907" }, { "id": "PANTHER:PTHR46488" }, { "id": "UniProtKB:O43299" }, { "pages": [ "gene/references" ], "id": "RGD:1626268" }, { "pages": [ "gene" ], "id": "HGNC:22197" }, { "id": "RGD:1626268" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APAF1", "geneSynopsis": "This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "apoptotic peptidase activating factor 1", "basicGeneticEntity": { "synonyms": [ "APAF-1", "CED4", "DKFZp781B1145", "apoptotic protease activating factor 1", "apoptotic protease-activating factor 1" ], "secondaryIds": [ "RGD:733293" ], "genomeLocations": [ { "strand": "+", "endPosition": 98735433, "chromosome": "12", "assembly": "GRCh38", "startPosition": 98645149 } ], "primaryId": "HGNC:576", "crossReferences": [ { "id": "ENSEMBL:ENSG00000120868" }, { "id": "NCBI_Gene:317" }, { "id": "PANTHER:PTHR22845" }, { "id": "UniProtKB:O14727" }, { "pages": [ "gene/references" ], "id": "RGD:733293" }, { "pages": [ "gene" ], "id": "HGNC:576" }, { "id": "RGD:733293" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APBA1", "geneSynopsis": "The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "amyloid beta precursor protein binding family A member 1", "basicGeneticEntity": { "synonyms": [ "D9S411E", "LIN10", "MINT1", "X11", "X11A", "X11ALPHA", "adapter protein X11alpha", "adaptor protein X11alpha", "amyloid beta (A4) precursor protein-binding, family A, member 1 (X11)", "amyloid beta A4 precursor protein-binding family A member 1", "amyloid-beta A4 precursor protein-binding family A member 1", "mint-1", "neuron-specific X11 protein", "neuronal munc18-1-interacting protein 1", "phosphotyrosine-binding/-interacting domain (PTB)-bearing protein" ], "secondaryIds": [ "RGD:732461" ], "genomeLocations": [ { "strand": "-", "endPosition": 69673013, "chromosome": "9", "assembly": "GRCh38", "startPosition": 69427532 } ], "primaryId": "HGNC:578", "crossReferences": [ { "id": "ENSEMBL:ENSG00000107282" }, { "id": "NCBI_Gene:320" }, { "id": "PANTHER:PTHR12345" }, { "id": "UniProtKB:Q02410" }, { "pages": [ "gene/references" ], "id": "RGD:732461" }, { "pages": [ "gene" ], "id": "HGNC:578" }, { "id": "RGD:732461" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APBA2", "geneSynopsis": "The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2017]", "soTermId": "SO:0001217", "name": "amyloid beta precursor protein binding family A member 2", "basicGeneticEntity": { "synonyms": [ "D15S1518E", "HsT16821", "LIN-10", "MGC99508", "MGC:14091", "MINT2", "X11-BETA", "X11-like protein", "X11L", "adapter protein X11beta", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)", "amyloid beta A4 precursor protein-binding family A member 2", "amyloid-beta A4 precursor protein-binding family A member 2", "mint-2", "neuron-specific X11L protein", "neuronal munc18-1-interacting protein 2", "phosphotyrosine-binding/-interacting domain (PTB)-bearing protein" ], "secondaryIds": [ "RGD:733396" ], "genomeLocations": [ { "strand": "+", "endPosition": 29118317, "chromosome": "15", "assembly": "GRCh38", "startPosition": 28884449 } ], "primaryId": "HGNC:579", "crossReferences": [ { "id": "ENSEMBL:ENSG00000276495" }, { "id": "ENSEMBL:ENSG00000034053" }, { "id": "NCBI_Gene:321" }, { "id": "PANTHER:PTHR12345" }, { "id": "UniProtKB:Q99767" }, { "pages": [ "gene/references" ], "id": "RGD:733396" }, { "pages": [ "gene" ], "id": "HGNC:579" }, { "id": "RGD:733396" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APBA3", "geneSynopsis": "The protein encoded by this gene is a member of the X11 protein family. It is an adapter protein that interacts with the Alzheimer's disease amyloid precursor protein. This gene product is believed to be involved in signal transduction processes. This gene is a candidate gene for Alzheimer's disease. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "amyloid beta precursor protein binding family A member 3", "basicGeneticEntity": { "synonyms": [ "MGC:15815", "X11-like 2 protein", "X11L2", "adapter protein X11gamma", "amyloid beta (A4) precursor protein-binding, family A, member 3 (X11-like 2)", "amyloid beta A4 precursor protein-binding family A member 3", "amyloid-beta A4 precursor protein-binding family A member 3", "mint-3", "mint3", "neuron-specific X11L2 protein", "neuronal munc18-1-interacting protein 3", "phosphotyrosine-binding/-interacting domain (PTB)-bearing protein" ], "secondaryIds": [ "RGD:737449" ], "genomeLocations": [ { "strand": "-", "endPosition": 3761700, "chromosome": "19", "assembly": "GRCh38", "startPosition": 3750772 } ], "primaryId": "HGNC:580", "crossReferences": [ { "id": "ENSEMBL:ENSG00000011132" }, { "id": "NCBI_Gene:9546" }, { "id": "PANTHER:PTHR12345" }, { "id": "UniProtKB:O96018" }, { "pages": [ "gene/references" ], "id": "RGD:737449" }, { "pages": [ "gene" ], "id": "HGNC:580" }, { "id": "RGD:737449" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APBB1", "geneSynopsis": "The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]", "soTermId": "SO:0001217", "name": "amyloid beta precursor protein binding family B member 1", "basicGeneticEntity": { "synonyms": [ "FE65", "MGC:9072", "RIR", "adaptor protein FE65a2", "amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)", "amyloid beta A4 precursor protein-binding family B member 1", "amyloid beta A4 precursor protein-binding, family B, member 1", "amyloid-beta A4 precursor protein-binding family B member 1", "stat-like protein" ], "secondaryIds": [ "RGD:1349313" ], "genomeLocations": [ { "strand": "-", "endPosition": 6419453, "chromosome": "11", "assembly": "GRCh38", "startPosition": 6395111 } ], "primaryId": "HGNC:581", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166313" }, { "id": "NCBI_Gene:322" }, { "id": "PANTHER:PTHR14058" }, { "id": "UniProtKB:O00213" }, { "pages": [ "gene/references" ], "id": "RGD:1349313" }, { "pages": [ "gene" ], "id": "HGNC:581" }, { "id": "RGD:1349313" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APBB1IP", "geneSynopsis": "Predicted to be involved in signal transduction. Predicted to act upstream of or within T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell and positive regulation of cell adhesion. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "amyloid beta precursor protein binding family B member 1 interacting protein", "basicGeneticEntity": { "synonyms": [ "APBB1-interacting protein 1", "INAG1", "MLLT10/APBB1IP reciprocal fusion", "PREL-1", "PREL1", "RARP-1", "RARP1", "RIAM", "Rap1-GTP-interacting adaptor molecule", "Rap1-interacting adaptor molecule", "amyloid beta A4 precursor protein-binding family B member 1-interacting protein", "proline rich EVH1 ligand 1", "proline-rich EVH1 ligand 1", "proline-rich protein 73", "rap1-GTP-interacting adapter molecule", "retinoic acid-responsive proline-rich protein 1" ], "secondaryIds": [ "RGD:1312445" ], "genomeLocations": [ { "strand": "+", "endPosition": 26568449, "chromosome": "10", "assembly": "GRCh38", "startPosition": 26438341 } ], "primaryId": "HGNC:17379", "crossReferences": [ { "id": "ENSEMBL:ENSG00000077420" }, { "id": "NCBI_Gene:54518" }, { "id": "PANTHER:PTHR11243" }, { "id": "UniProtKB:Q7Z5R6" }, { "pages": [ "gene/references" ], "id": "RGD:1312445" }, { "pages": [ "gene" ], "id": "HGNC:17379" }, { "id": "RGD:1312445" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APBB2", "geneSynopsis": "The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]", "soTermId": "SO:0001217", "name": "amyloid beta precursor protein binding family B member 2", "basicGeneticEntity": { "synonyms": [ "DKFZp434E033", "FE65L", "FE65L1", "Fe65-like 1", "MGC35575", "amyloid beta A4 precursor protein-binding family B member 2", "amyloid beta precursor protein-binding family B member 2", "amyloid-beta A4 precursor protein-binding family B member 2" ], "secondaryIds": [ "RGD:1342475" ], "genomeLocations": [ { "strand": "-", "endPosition": 41216714, "chromosome": "4", "assembly": "GRCh38", "startPosition": 40810027 } ], "primaryId": "HGNC:582", "crossReferences": [ { "id": "ENSEMBL:ENSG00000163697" }, { "id": "NCBI_Gene:323" }, { "id": "PANTHER:PTHR14058" }, { "id": "UniProtKB:Q92870" }, { "pages": [ "gene/references" ], "id": "RGD:1342475" }, { "pages": [ "gene" ], "id": "HGNC:582" }, { "id": "RGD:1342475" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APBB2-AS1", "soTermId": "SO:0001263", "name": "APBB2 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:628359277" ], "primaryId": "HGNC:58763", "crossReferences": [ { "id": "NCBI_Gene:143528982" }, { "pages": [ "gene/references" ], "id": "RGD:628359277" }, { "pages": [ "gene" ], "id": "HGNC:58763" }, { "id": "RGD:628359277" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APBB3", "geneSynopsis": "The protein encoded by this gene is a member of the APBB protein family. It is found in the cytoplasm and binds to the intracellular domain of the Alzheimer's disease beta-amyloid precursor protein (APP) as well as to other APP-like proteins. It is thought that the protein encoded by this gene may modulate the internalization of APP. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "amyloid beta precursor protein binding family B member 3", "basicGeneticEntity": { "synonyms": [ "FE65-like protein 2", "FE65L2", "MGC150555", "MGC87674", "SRA", "amyloid beta (A4) precursor protein-binding, family B, member 3", "amyloid beta A4 precursor protein-binding family B member 3", "amyloid precursor interacting protein", "amyloid-beta A4 precursor protein-binding family B member 3", "protein Fe65-like 2" ], "secondaryIds": [ "RGD:733384" ], "genomeLocations": [ { "strand": "-", "endPosition": 140564781, "chromosome": "5", "assembly": "GRCh38", "startPosition": 140558268 } ], "primaryId": "HGNC:20708", "crossReferences": [ { "id": "ENSEMBL:ENSG00000113108" }, { "id": "NCBI_Gene:10307" }, { "id": "PANTHER:PTHR14058" }, { "id": "UniProtKB:O95704" }, { "pages": [ "gene/references" ], "id": "RGD:733384" }, { "pages": [ "gene" ], "id": "HGNC:20708" }, { "id": "RGD:733384" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APC", "geneSynopsis": "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, where 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, Jun 2022]", "soTermId": "SO:0001217", "name": "APC regulator of Wnt signaling pathway", "basicGeneticEntity": { "synonyms": [ "APC, WNT signaling pathway regulator", "BTPS2", "DESMD", "DP2", "DP2.5", "DP3", "GS", "PPP1R46", "WNT signaling pathway regulator", "adenomatosis polyposis coli", "adenomatosis polyposis coli tumor suppressor", "adenomatous polyposis coli", "adenomatous polyposis coli (APC)", "adenomatous polyposis coli protein", "deleted in polyposis 2.5", "protein phosphatase 1, regulatory subunit 46", "truncated adenomatosis polyposis coli" ], "secondaryIds": [ "RGD:736624" ], "genomeLocations": [ { "strand": "+", "endPosition": 112846239, "chromosome": "5", "assembly": "GRCh38", "startPosition": 112707498 } ], "primaryId": "HGNC:583", "crossReferences": [ { "id": "ENSEMBL:ENSG00000134982" }, { "id": "NCBI_Gene:324" }, { "id": "PANTHER:PTHR12607" }, { "id": "UniProtKB:P25054" }, { "pages": [ "gene/references" ], "id": "RGD:736624" }, { "pages": [ "gene" ], "id": "HGNC:583" }, { "id": "RGD:736624" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APC2", "geneSynopsis": "This gene encodes a strongly conserved protein that has an N-terminal coiled-coil domain followed by an armadillo domain, five 20-amino acid repeats, and two SAMP domains. This protein promotes the assembly of a multiprotein complex that recruits and phosphorylates the Wnt effector beta-catenin and targets beta-catenin for ubiquitylation and proteasomal degradation. This protein therefore plays a role in the reduction of cytoplasmic levels of beta-catenin which in turn reduces activation of Wnt target genes that play a pivotal role in the pathogenesis of various human cancers. The protein encoded by this gene is closely related to the adenomatous polyposis coli (APC) tumor-suppressor protein and has similar tumor-suppressor effects. This gene also plays a role in actin assembly, cell-cell adhesion, and microtubule network formation through its interaction with cytoskeletal proteins. This gene has its highest expression in the central nervous system and is involved in brain development through cytoskeletal regulation in neurons. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017]", "soTermId": "SO:0001217", "name": "APC regulator of Wnt signaling pathway 2", "basicGeneticEntity": { "synonyms": [ "APC-like", "APC2, WNT signaling pathway regulator", "APCL", "MRT74", "SOTOS3", "adenomatosis polyposis coli 2", "adenomatous polyposis coli like", "adenomatous polyposis coli protein 2", "adenomatous polyposis coli protein-like" ], "secondaryIds": [ "RGD:1317926" ], "genomeLocations": [ { "strand": "+", "endPosition": 1473244, "chromosome": "19", "assembly": "GRCh38", "startPosition": 1446230 } ], "primaryId": "HGNC:24036", "crossReferences": [ { "id": "ENSEMBL:ENSG00000115266" }, { "id": "NCBI_Gene:10297" }, { "id": "PANTHER:PTHR12607" }, { "id": "UniProtKB:O95996" }, { "pages": [ "gene/references" ], "id": "RGD:1317926" }, { "pages": [ "gene" ], "id": "HGNC:24036" }, { "id": "RGD:1317926" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APC2-AS1", "soTermId": "SO:0001263", "name": "APC2 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:617301283" ], "primaryId": "HGNC:58571", "crossReferences": [ { "id": "NCBI_Gene:142592841" }, { "pages": [ "gene/references" ], "id": "RGD:617301283" }, { "pages": [ "gene" ], "id": "HGNC:58571" }, { "id": "RGD:617301283" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APCDD1", "geneSynopsis": "This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010]", "soTermId": "SO:0001217", "name": "APC down-regulated 1", "basicGeneticEntity": { "synonyms": [ "B7323", "DRAPC1", "FP7019", "HHS", "HTS", "HYPT1", "adenomatosis polyposis coli down-regulated 1", "adenomatosis polyposis coli down-regulated 1 protein", "hypoptrichosis simplex" ], "secondaryIds": [ "RGD:1351282" ], "genomeLocations": [ { "strand": "+", "endPosition": 10489949, "chromosome": "18", "assembly": "GRCh38", "startPosition": 10454635 } ], "primaryId": "HGNC:15718", "crossReferences": [ { "id": "ENSEMBL:ENSG00000154856" }, { "id": "NCBI_Gene:147495" }, { "id": "PANTHER:PTHR31021" }, { "id": "UniProtKB:Q8J025" }, { "pages": [ "gene/references" ], "id": "RGD:1351282" }, { "pages": [ "gene" ], "id": "HGNC:15718" }, { "id": "RGD:1351282" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APCDD1L", "geneSynopsis": "Predicted to enable Wnt-protein binding activity. Predicted to be involved in negative regulation of Wnt signaling pathway. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "APC down-regulated 1 like", "basicGeneticEntity": { "synonyms": [ "FLJ90166", "MGC126807", "MGC126809", "RP4-685L9.2", "adenomatosis polyposis coli down-regulated 1 like", "adenomatosis polyposis coli down-regulated 1 protein-like", "adenomatosis polyposis coli down-regulated 1-like", "protein APCDD1-like" ], "secondaryIds": [ "RGD:1605849" ], "genomeLocations": [ { "strand": "-", "endPosition": 58515399, "chromosome": "20", "assembly": "GRCh38", "startPosition": 58458452 } ], "primaryId": "HGNC:26892", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198768" }, { "id": "NCBI_Gene:164284" }, { "id": "PANTHER:PTHR31021" }, { "id": "UniProtKB:Q8NCL9" }, { "pages": [ "gene/references" ], "id": "RGD:1605849" }, { "pages": [ "gene" ], "id": "HGNC:26892" }, { "id": "RGD:1605849" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APCDD1L-DT", "geneSynopsis": "INTERACTS WITH 2,2',5,5'-tetrachlorobiphenyl; 2-hydroxypropanoic acid; aflatoxin B1", "soTermId": "SO:0001263", "name": "APCDD1L divergent transcript", "basicGeneticEntity": { "synonyms": [ "APCDD1L antisense RNA 1 (head to head)", "APCDD1L-AS1" ], "secondaryIds": [ "RGD:6892856" ], "genomeLocations": [ { "strand": "+", "endPosition": 58623080, "chromosome": "20", "assembly": "GRCh38", "startPosition": 58515379 } ], "primaryId": "HGNC:27152", "crossReferences": [ { "id": "ENSEMBL:ENSG00000231290" }, { "id": "NCBI_Gene:149773" }, { "pages": [ "gene/references" ], "id": "RGD:6892856" }, { "pages": [ "gene" ], "id": "HGNC:27152" }, { "id": "RGD:6892856" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APCS", "geneSynopsis": "The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. [provided by RefSeq, Sep 2008]", "soTermId": "SO:0001217", "name": "amyloid P component, serum", "basicGeneticEntity": { "synonyms": [ "9.5S alpha-1-glycoprotein", "HEL-S-92n", "MGC88159", "PTX2", "SAP", "epididymis secretory sperm binding protein Li 92n", "pentaxin-related", "pentraxin-2", "pentraxin-related", "serum amyloid P-component" ], "secondaryIds": [ "RGD:68444" ], "genomeLocations": [ { "strand": "+", "endPosition": 159588865, "chromosome": "1", "assembly": "GRCh38", "startPosition": 159587826 } ], "primaryId": "HGNC:584", "crossReferences": [ { "id": "ENSEMBL:ENSG00000132703" }, { "id": "NCBI_Gene:325" }, { "id": "PANTHER:PTHR45869" }, { "id": "UniProtKB:P02743" }, { "pages": [ "gene/references" ], "id": "RGD:68444" }, { "pages": [ "gene" ], "id": "HGNC:584" }, { "id": "RGD:68444" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APEH", "geneSynopsis": "This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "acylaminoacyl-peptide hydrolase", "basicGeneticEntity": { "synonyms": [ "AARE", "ACPH", "APH", "D3F15S2", "D3S48E", "DNF15S2", "MGC2178", "N-acylaminoacyl-peptide hydrolase", "OPH", "acyl-peptide hydrolase", "acylamino-acid-releasing enzyme", "acylaminoacyl-peptidase", "oxidized protein hydrolase" ], "secondaryIds": [ "RGD:735668" ], "genomeLocations": [ { "strand": "+", "endPosition": 49683971, "chromosome": "3", "assembly": "GRCh38", "startPosition": 49673117 } ], "primaryId": "HGNC:586", "crossReferences": [ { "id": "ENSEMBL:ENSG00000164062" }, { "id": "NCBI_Gene:327" }, { "id": "PANTHER:PTHR42776" }, { "id": "UniProtKB:P13798" }, { "pages": [ "gene/references" ], "id": "RGD:735668" }, { "pages": [ "gene" ], "id": "HGNC:586" }, { "id": "RGD:735668" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APELA", "geneSynopsis": "This gene encodes a peptide hormone that binds to the Apelin receptor. The encoded protein is required for heart development in zebrafish and has been shown to maintain self-renewal of human embryonic stem cells through activation of the PI3K/AKT pathway. Experiments in human and mouse cell lines point to additional roles for the encoded protein in angiogenesis and regulation of vascular tone. [provided by RefSeq, Jul 2016]", "soTermId": "SO:0001217", "name": "apelin receptor early endogenous ligand", "basicGeneticEntity": { "synonyms": [ "ELA", "ELABELA", "Ende", "tdl", "toddler" ], "secondaryIds": [ "RGD:7870140" ], "genomeLocations": [ { "strand": "+", "endPosition": 164899007, "chromosome": "4", "assembly": "GRCh38", "startPosition": 164876944 } ], "primaryId": "HGNC:48925", "crossReferences": [ { "id": "ENSEMBL:ENSG00000248329" }, { "id": "NCBI_Gene:100506013" }, { "id": "UniProtKB:P0DMC3" }, { "pages": [ "gene/references" ], "id": "RGD:7870140" }, { "pages": [ "gene" ], "id": "HGNC:48925" }, { "id": "RGD:7870140" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APEX1", "geneSynopsis": "The APEX gene encodes the major AP endonuclease in human cells. It encodes the APEX endonuclease, a DNA repair enzyme with apurinic/apyrimidinic (AP) activity. Such AP activity sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. The AP sites are the most frequent pre-mutagenic lesions that can prevent normal DNA replication. Splice variants have been found for this gene; all encode the same protein. Disruptions in the biological functions related to APEX are associated with many various malignancies and neurodegenerative diseases.[provided by RefSeq, Dec 2019]", "soTermId": "SO:0001217", "name": "apurinic/apyrimidinic endodeoxyribonuclease 1", "basicGeneticEntity": { "synonyms": [ "AP endonuclease 1", "AP endonuclease class I", "AP lyase", "APE", "APE1", "APEN", "APEX", "APEX nuclease (multifunctional DNA repair enzyme) 1", "APX", "DNA repair nuclease/redox regulator APEX1", "DNA-(apurinic or apyrimidinic site) endonuclease", "DNA-(apurinic or apyrimidinic site) lyase", "HAP1", "REF1", "apurinic-apyrimidinic endonuclease 1", "apurinic/apyrimidinic (abasic) endonuclease", "apurinic/apyrimidinic exonuclease", "deoxyribonuclease (apurinic or apyrimidinic)", "multifunctional DNA repair enzyme", "protein REF-1", "redox factor 1", "redox factor-1" ], "secondaryIds": [ "RGD:1606343" ], "genomeLocations": [ { "strand": "+", "endPosition": 20457779, "chromosome": "14", "assembly": "GRCh38", "startPosition": 20454525 } ], "primaryId": "HGNC:587", "crossReferences": [ { "id": "ENSEMBL:ENSG00000291796" }, { "id": "ENSEMBL:ENSG00000100823" }, { "id": "NCBI_Gene:328" }, { "id": "PANTHER:PTHR22748" }, { "id": "UniProtKB:P27695" }, { "pages": [ "gene/references" ], "id": "RGD:1606343" }, { "pages": [ "gene" ], "id": "HGNC:587" }, { "id": "RGD:1606343" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APEX2", "geneSynopsis": "Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes a protein shown to have a weak class II AP endonuclease activity. Most of the encoded protein is located in the nucleus but some is also present in mitochondria. This protein may play an important role in both nuclear and mitochondrial base excision repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]", "soTermId": "SO:0001217", "name": "apurinic/apyrimidinic endodeoxyribonuclease 2", "basicGeneticEntity": { "synonyms": [ "AP endonuclease 2", "AP endonuclease XTH2", "APE2", "APEX nuclease (apurinic/apyrimidinic endonuclease) 2", "APEX nuclease 2", "APEX nuclease-like 2", "APEXL2", "DNA-(apurinic or apyrimidinic site) endonuclease 2", "DNA-(apurinic or apyrimidinic site) lyase 2", "DNA-apurinic or apyrimidinic site lyase 2", "XTH2", "ZGRF2", "apurinic-apyrimidinic endonuclease 2", "apurinic/apyrimidinic endonuclease-like 2", "zinc finger, GRF-type containing 2" ], "secondaryIds": [ "RGD:1350631" ], "genomeLocations": [ { "strand": "+", "endPosition": 55009057, "chromosome": "X", "assembly": "GRCh38", "startPosition": 55000331 } ], "primaryId": "HGNC:17889", "crossReferences": [ { "id": "ENSEMBL:ENSG00000169188" }, { "id": "NCBI_Gene:27301" }, { "id": "PANTHER:PTHR22748" }, { "id": "UniProtKB:Q9UBZ4" }, { "pages": [ "gene/references" ], "id": "RGD:1350631" }, { "pages": [ "gene" ], "id": "HGNC:17889" }, { "id": "RGD:1350631" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APH1A", "geneSynopsis": "This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011]", "soTermId": "SO:0001217", "name": "aph-1A gamma-secretase subunit", "basicGeneticEntity": { "synonyms": [ "6530402N02Rik", "APH-1", "APH-1A", "APH1A gamma secretase subunit", "CGI-78", "anterior pharynx defective 1 homolog A", "aph-1 homolog A, gamma secretase subunit", "aph-1 homolog A, gamma-secretase subunit", "aph-1alpha", "gamma-secretase subunit APH-1A", "presenilin-stabilization factor" ], "secondaryIds": [ "RGD:1349695" ], "genomeLocations": [ { "strand": "-", "endPosition": 150269580, "chromosome": "1", "assembly": "GRCh38", "startPosition": 150265399 } ], "primaryId": "HGNC:29509", "crossReferences": [ { "id": "ENSEMBL:ENSG00000117362" }, { "id": "NCBI_Gene:51107" }, { "id": "PANTHER:PTHR12889" }, { "id": "UniProtKB:Q96BI3" }, { "pages": [ "gene/references" ], "id": "RGD:1349695" }, { "pages": [ "gene" ], "id": "HGNC:29509" }, { "id": "RGD:1349695" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APH1B", "geneSynopsis": "This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011]", "soTermId": "SO:0001217", "name": "aph-1B gamma-secretase subunit", "basicGeneticEntity": { "synonyms": [ "APH-1B", "APH1B gamma secretase subunit", "DKFZp564D0372", "FLJ33115", "PRO1328", "PSFL", "TAAV688", "anterior pharynx defective 1 homolog B", "anterior pharynx defective 1B-like", "aph-1 homolog B, gamma secretase subunit", "aph-1 homolog B, gamma-secretase subunit", "aph-1beta", "gamma-secretase subunit APH-1B", "presenilin stabilization factor-like", "presenilin-stabilization factor-like" ], "secondaryIds": [ "RGD:1344589" ], "genomeLocations": [ { "strand": "+", "endPosition": 63309126, "chromosome": "15", "assembly": "GRCh38", "startPosition": 63276018 } ], "primaryId": "HGNC:24080", "crossReferences": [ { "id": "ENSEMBL:ENSG00000138613" }, { "id": "NCBI_Gene:83464" }, { "id": "PANTHER:PTHR12889" }, { "id": "UniProtKB:Q8WW43" }, { "pages": [ "gene/references" ], "id": "RGD:1344589" }, { "pages": [ "gene" ], "id": "HGNC:24080" }, { "id": "RGD:1344589" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "API5", "geneSynopsis": "This gene encodes an apoptosis inhibitory protein whose expression prevents apoptosis after growth factor deprivation. This protein suppresses the transcription factor E2F1-induced apoptosis and also interacts with, and negatively regulates Acinus, a nuclear factor involved in apoptotic DNA fragmentation. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]", "soTermId": "SO:0001217", "name": "apoptosis inhibitor 5", "basicGeneticEntity": { "synonyms": [ "AAC-11", "AAC11", "FIF", "antiapoptosis clone 11 protein", "cell migration-inducing gene 8 protein", "fibroblast growth factor 2-interacting factor 2", "migration-inducing protein MIG8" ], "secondaryIds": [ "RGD:625786595" ], "genomeLocations": [ { "strand": "+", "endPosition": 43344530, "chromosome": "11", "assembly": "GRCh38", "startPosition": 43311955 } ], "primaryId": "HGNC:594", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166181" }, { "id": "NCBI_Gene:8539" }, { "id": "PANTHER:PTHR12758" }, { "id": "UniProtKB:Q9BZZ5" }, { "pages": [ "gene/references" ], "id": "RGD:625786595" }, { "pages": [ "gene" ], "id": "HGNC:594" }, { "id": "RGD:625786595" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "API5P1", "geneSynopsis": "ASSOCIATED WITH cervical cancer; INTERACTS WITH cyclosporin A; lead diacetate; 1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane (ortholog)", "soTermId": "SO:0000336", "name": "apoptosis inhibitor 5 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AAC-11", "AAC11", "API-5", "API5", "API5L1", "FIF", "FLJ11587", "antiapoptosis clone 11 protein", "apoptosis inhibitor 5", "cell migration-inducing gene 8 protein", "fibroblast growth factor 2-interacting factor 2", "migration-inducing protein MIG8" ], "secondaryIds": [ "RGD:1320288" ], "genomeLocations": [ { "strand": "-", "endPosition": 116108497, "chromosome": "X", "assembly": "GRCh38", "startPosition": 116104366 } ], "primaryId": "HGNC:595", "crossReferences": [ { "id": "ENSEMBL:ENSG00000234558" }, { "id": "ENSEMBL:ENSG00000166181" }, { "id": "NCBI_Gene:642812" }, { "pages": [ "gene/references" ], "id": "RGD:1320288" }, { "pages": [ "gene" ], "id": "HGNC:595" }, { "id": "RGD:1320288" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "API5P2", "soTermId": "SO:0000336", "name": "apoptosis inhibitor 5 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:4144507" ], "genomeLocations": [ { "strand": "-", "endPosition": 177998877, "chromosome": "2", "assembly": "GRCh38", "startPosition": 177994817 } ], "primaryId": "HGNC:39070", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213962" }, { "id": "NCBI_Gene:728664" }, { "pages": [ "gene/references" ], "id": "RGD:4144507" }, { "pages": [ "gene" ], "id": "HGNC:39070" }, { "id": "RGD:4144507" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APIP", "geneSynopsis": "Enables identical protein binding activity; methylthioribulose 1-phosphate dehydratase activity; and zinc ion binding activity. Involved in several processes, including L-methionine salvage from methylthioadenosine; protein homotetramerization; and pyroptotic inflammatory response. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "APAF1 interacting protein", "basicGeneticEntity": { "synonyms": [ "APAF1-interacting protein", "APIP2", "CGI-29", "CGI29", "MMRP19", "MTRu-1-P dehydratase", "dJ179L10.2", "hAPIP", "methylthioribulose-1-phosphate dehydratase", "probable methylthioribulose-1-phosphate dehydratase" ], "secondaryIds": [ "RGD:1603043" ], "genomeLocations": [ { "strand": "-", "endPosition": 34916520, "chromosome": "11", "assembly": "GRCh38", "startPosition": 34853094 } ], "primaryId": "HGNC:17581", "crossReferences": [ { "id": "ENSEMBL:ENSG00000149089" }, { "id": "NCBI_Gene:51074" }, { "id": "PANTHER:PTHR10640" }, { "id": "UniProtKB:Q96GX9" }, { "pages": [ "gene/references" ], "id": "RGD:1603043" }, { "pages": [ "gene" ], "id": "HGNC:17581" }, { "id": "RGD:1603043" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APLF", "geneSynopsis": "Enables several functions, including ADP-D-ribose modification-dependent protein binding activity; nuclease activity; and poly-ADP-D-ribose binding activity. Involved in DNA repair; DNA repair-dependent chromatin remodeling; and protein localization to chromatin. Located in nucleoplasm. Is active in site of double-strand break. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "aprataxin and PNKP like factor", "basicGeneticEntity": { "synonyms": [ "APFL", "C2orf13", "FLJ16593", "MGC47799", "PALF", "PNK and APTX-like FHA domain-containing protein", "PNK and APTX-like FHA protein", "XRCC1-interacting protein 1", "Xip1", "ZCCHH1", "aprataxin and PNK-like factor", "aprataxin- and PNK-like factor", "apurinic-apyrimidinic endonuclease APLF", "zinc finger, CX5CX6HX5H motif containing 1" ], "secondaryIds": [ "RGD:1344091" ], "genomeLocations": [ { "strand": "+", "endPosition": 68655862, "chromosome": "2", "assembly": "GRCh38", "startPosition": 68467572 } ], "primaryId": "HGNC:28724", "crossReferences": [ { "id": "ENSEMBL:ENSG00000169621" }, { "id": "NCBI_Gene:200558" }, { "id": "PANTHER:PTHR21315" }, { "id": "UniProtKB:Q8IW19" }, { "pages": [ "gene/references" ], "id": "RGD:1344091" }, { "pages": [ "gene" ], "id": "HGNC:28724" }, { "id": "RGD:1344091" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APLN", "geneSynopsis": "This gene encodes a peptide that functions as an endogenous ligand for the G-protein coupled apelin receptor. The encoded preproprotein is proteolytically processed into biologically active C-terminal peptide fragments. These peptide fragments activate different tissue specific signaling pathways that regulate diverse biological functions including fluid homeostasis, cardiovascular function and insulin secretion. This protein also functions as a coreceptor for the human immunodeficiency virus 1. [provided by RefSeq, Feb 2016]", "soTermId": "SO:0001217", "name": "apelin", "basicGeneticEntity": { "synonyms": [ "AGTRL1 ligand", "APEL", "APJ endogenous ligand", "XNPEP2" ], "secondaryIds": [ "RGD:1351986" ], "genomeLocations": [ { "strand": "-", "endPosition": 129654959, "chromosome": "X", "assembly": "GRCh38", "startPosition": 129645259 } ], "primaryId": "HGNC:16665", "crossReferences": [ { "id": "ENSEMBL:ENSG00000171388" }, { "id": "NCBI_Gene:8862" }, { "id": "PANTHER:PTHR15953" }, { "id": "UniProtKB:Q9ULZ1" }, { "pages": [ "gene/references" ], "id": "RGD:1351986" }, { "pages": [ "gene" ], "id": "HGNC:16665" }, { "id": "RGD:1351986" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APLNR", "geneSynopsis": "This gene encodes a member of the G protein-coupled receptor gene family. The encoded protein is related to the angiotensin receptor, but is actually an apelin receptor that inhibits adenylate cyclase activity and plays a counter-regulatory role against the pressure action of angiotensin II by exerting hypertensive effect. It functions in the cardiovascular and central nervous systems, in glucose metabolism, in embryonic and tumor angiogenesis and as a human immunodeficiency virus (HIV-1) coreceptor. Two transcript variants resulting from alternative splicing have been identified. [provided by RefSeq, Jul 2009]", "soTermId": "SO:0001217", "name": "apelin receptor", "basicGeneticEntity": { "synonyms": [ "AGTRL1", "APJ", "APJ (apelin) receptor", "APJ receptor", "APJR", "FLJ90771", "FLJ96609", "G protein-coupled receptor APJ", "G-protein coupled receptor APJ", "G-protein coupled receptor HG11", "HG11", "HG11 orphan receptor", "MGC45246", "angiotensin II receptor-like 1", "angiotensin receptor-like 1" ], "secondaryIds": [ "RGD:733537" ], "genomeLocations": [ { "strand": "-", "endPosition": 57237250, "chromosome": "11", "assembly": "GRCh38", "startPosition": 57233577 } ], "primaryId": "HGNC:339", "crossReferences": [ { "id": "ENSEMBL:ENSG00000134817" }, { "id": "NCBI_Gene:187" }, { "id": "PANTHER:PTHR10489" }, { "id": "UniProtKB:P35414" }, { "pages": [ "gene/references" ], "id": "RGD:733537" }, { "pages": [ "gene" ], "id": "HGNC:339" }, { "id": "RGD:733537" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APLP1", "geneSynopsis": "This gene encodes a member of the highly conserved amyloid precursor protein gene family. The encoded protein is a membrane-associated glycoprotein that is cleaved by secretases in a manner similar to amyloid beta A4 precursor protein cleavage. This cleavage liberates an intracellular cytoplasmic fragment that may act as a transcriptional activator. The encoded protein may also play a role in synaptic maturation during cortical development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "amyloid beta precursor like protein 1", "basicGeneticEntity": { "synonyms": [ "APLP", "APLP-1", "amyloid beta (A4) precursor-like protein 1", "amyloid precursor-like protein 1", "amyloid-like protein 1" ], "secondaryIds": [ "RGD:736696" ], "genomeLocations": [ { "strand": "+", "endPosition": 35879803, "chromosome": "19", "assembly": "GRCh38", "startPosition": 35867899 } ], "primaryId": "HGNC:597", "crossReferences": [ { "id": "ENSEMBL:ENSG00000105290" }, { "id": "NCBI_Gene:333" }, { "id": "PANTHER:PTHR23103" }, { "id": "UniProtKB:P51693" }, { "pages": [ "gene/references" ], "id": "RGD:736696" }, { "pages": [ "gene" ], "id": "HGNC:597" }, { "id": "RGD:736696" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APLP2", "geneSynopsis": "This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle region, and transmembrane and intracellular domains at the C-terminus. This protein interacts with major histocompatibility complex (MHC) class I molecules. The synergy of this protein and the APP is required to mediate neuromuscular transmission, spatial learning and synaptic plasticity. This protein has been implicated in the pathogenesis of Alzheimer's disease. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]", "soTermId": "SO:0001217", "name": "amyloid beta precursor like protein 2", "basicGeneticEntity": { "synonyms": [ "APLP-2", "APPH", "APPL2", "CDEBP", "CDEI box-binding protein", "amyloid beta (A4) precursor-like protein 2", "amyloid precursor protein homolog HSD-2", "amyloid protein homolog", "amyloid-like protein 2", "sperm membrane protein YWK-II", "testicular tissue protein Li 23" ], "secondaryIds": [ "RGD:731852" ], "genomeLocations": [ { "strand": "+", "endPosition": 130144811, "chromosome": "11", "assembly": "GRCh38", "startPosition": 130068147 } ], "primaryId": "HGNC:598", "crossReferences": [ { "id": "ENSEMBL:ENSG00000084234" }, { "id": "NCBI_Gene:334" }, { "id": "PANTHER:PTHR23103" }, { "id": "UniProtKB:Q06481" }, { "pages": [ "gene/references" ], "id": "RGD:731852" }, { "pages": [ "gene" ], "id": "HGNC:598" }, { "id": "RGD:731852" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APMAP", "geneSynopsis": "Enables arylesterase activity. Located in cell surface and membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "adipocyte plasma membrane associated protein", "basicGeneticEntity": { "synonyms": [ "BSCv", "C20orf3", "adipocyte plasma membrane-associated protein" ], "secondaryIds": [ "RGD:1318897" ], "genomeLocations": [ { "strand": "-", "endPosition": 24992782, "chromosome": "20", "assembly": "GRCh38", "startPosition": 24962925 } ], "primaryId": "HGNC:13238", "crossReferences": [ { "id": "ENSEMBL:ENSG00000101474" }, { "id": "NCBI_Gene:57136" }, { "id": "PANTHER:PTHR10426" }, { "id": "UniProtKB:Q9HDC9" }, { "pages": [ "gene/references" ], "id": "RGD:1318897" }, { "pages": [ "gene" ], "id": "HGNC:13238" }, { "id": "RGD:1318897" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOA1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "apolipoprotein A1", "basicGeneticEntity": { "synonyms": [ "AMYLD3", "HPALP2", "MGC117399", "apo(a)", "apo-AI", "apoA-I", "apolipoprotein A-I" ], "secondaryIds": [ "RGD:735962" ], "genomeLocations": [ { "strand": "-", "endPosition": 116838203, "chromosome": "11", "assembly": "GRCh38", "startPosition": 116835750 } ], "primaryId": "HGNC:600", "crossReferences": [ { "id": "ENSEMBL:ENSG00000118137" }, { "id": "NCBI_Gene:335" }, { "id": "PANTHER:PTHR18976" }, { "id": "UniProtKB:P02647" }, { "pages": [ "gene/references" ], "id": "RGD:735962" }, { "pages": [ "gene" ], "id": "HGNC:600" }, { "id": "RGD:735962" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOA1-AS", "geneSynopsis": "ASSOCIATED WITH cardiomyopathy; INTERACTS WITH benzo[a]pyrene; GSK-J4", "soTermId": "SO:0001263", "name": "APOA1 antisense RNA", "basicGeneticEntity": { "secondaryIds": [ "RGD:9588830" ], "genomeLocations": [ { "strand": "+", "endPosition": 116856210, "chromosome": "11", "assembly": "GRCh38", "startPosition": 116836117 } ], "primaryId": "HGNC:40079", "crossReferences": [ { "id": "ENSEMBL:ENSG00000235910" }, { "id": "NCBI_Gene:104326055" }, { "pages": [ "gene/references" ], "id": "RGD:9588830" }, { "pages": [ "gene" ], "id": "HGNC:40079" }, { "id": "RGD:9588830" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOA2", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "apolipoprotein A2", "basicGeneticEntity": { "synonyms": [ "APOA2D", "Apo-AII", "ApoA-II", "apoAII", "apolipoprotein A-II" ], "secondaryIds": [ "RGD:737360" ], "genomeLocations": [ { "strand": "-", "endPosition": 161224305, "chromosome": "1", "assembly": "GRCh38", "startPosition": 161222290 } ], "primaryId": "HGNC:601", "crossReferences": [ { "id": "ENSEMBL:ENSG00000158874" }, { "id": "NCBI_Gene:336" }, { "id": "PANTHER:PTHR11027" }, { "id": "UniProtKB:P02652" }, { "pages": [ "gene/references" ], "id": "RGD:737360" }, { "pages": [ "gene" ], "id": "HGNC:601" }, { "id": "RGD:737360" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOA4", "geneSynopsis": "Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon. The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles. Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "apolipoprotein A4", "basicGeneticEntity": { "synonyms": [ "ADTKD6", "MGC142154", "MGC142156", "apo-AIV", "apoA-IV", "apolipoprotein A-IV" ], "secondaryIds": [ "RGD:737553" ], "genomeLocations": [ { "strand": "-", "endPosition": 116823304, "chromosome": "11", "assembly": "GRCh38", "startPosition": 116820700 } ], "primaryId": "HGNC:602", "crossReferences": [ { "id": "ENSEMBL:ENSG00000110244" }, { "id": "NCBI_Gene:337" }, { "id": "PANTHER:PTHR18976" }, { "id": "UniProtKB:P06727" }, { "pages": [ "gene/references" ], "id": "RGD:737553" }, { "pages": [ "gene" ], "id": "HGNC:602" }, { "id": "RGD:737553" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOA5", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "apolipoprotein A5", "basicGeneticEntity": { "synonyms": [ "APOA-V", "APOAV", "FLJ97995", "MGC126836", "MGC126838", "RAP3", "apo-AV", "apolipoprotein A-V", "apolipoprotein A-V precursor variant 3", "regeneration-associated protein 3" ], "secondaryIds": [ "RGD:736192" ], "genomeLocations": [ { "strand": "-", "endPosition": 116793026, "chromosome": "11", "assembly": "GRCh38", "startPosition": 116789014 } ], "primaryId": "HGNC:17288", "crossReferences": [ { "id": "ENSEMBL:ENSG00000110243" }, { "id": "NCBI_Gene:116519" }, { "id": "PANTHER:PTHR18976" }, { "id": "UniProtKB:Q6Q788" }, { "pages": [ "gene/references" ], "id": "RGD:736192" }, { "pages": [ "gene" ], "id": "HGNC:17288" }, { "id": "RGD:736192" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOB", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "apolipoprotein B", "basicGeneticEntity": { "synonyms": [ "FCHL2", "FLDB", "LDLCQ4", "apo B-100", "apoB-100", "apoB-48", "apolipoprotein B (including Ag(x) antigen)", "apolipoprotein B-100", "apolipoprotein B48", "mutant Apo B 100" ], "secondaryIds": [ "RGD:735787" ], "genomeLocations": [ { "strand": "-", "endPosition": 21044073, "chromosome": "2", "assembly": "GRCh38", "startPosition": 21001429 } ], "primaryId": "HGNC:603", "crossReferences": [ { "id": "ENSEMBL:ENSG00000084674" }, { "id": "NCBI_Gene:338" }, { "id": "PANTHER:PTHR13769" }, { "id": "UniProtKB:P04114" }, { "pages": [ "gene/references" ], "id": "RGD:735787" }, { "pages": [ "gene" ], "id": "HGNC:603" }, { "id": "RGD:735787" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOBEC1", "geneSynopsis": "This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]", "soTermId": "SO:0001217", "name": "apolipoprotein B mRNA editing enzyme catalytic subunit 1", "basicGeneticEntity": { "synonyms": [ "APO1", "APOBEC-1", "BEDP", "C->U-editing enzyme APOBEC-1", "CDAR1", "HEPR", "apolipoprotein B mRNA editing enzyme catalytic polypeptide 1", "apolipoprotein B mRNA editing enzyme complex-1", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1", "apolipoprotein B mRNA-editing enzyme 1", "mRNA(cytosine(6666)) deaminase 1" ], "secondaryIds": [ "RGD:736126" ], "genomeLocations": [ { "strand": "-", "endPosition": 7670599, "chromosome": "12", "assembly": "GRCh38", "startPosition": 7649400 } ], "primaryId": "HGNC:604", "crossReferences": [ { "id": "ENSEMBL:ENSG00000111701" }, { "id": "NCBI_Gene:339" }, { "id": "PANTHER:PTHR13857" }, { "id": "UniProtKB:P41238" }, { "pages": [ "gene/references" ], "id": "RGD:736126" }, { "pages": [ "gene" ], "id": "HGNC:604" }, { "id": "RGD:736126" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOBEC2", "geneSynopsis": "Enables cytidine deaminase activity and identical protein binding activity. Involved in positive regulation of gene expression via chromosomal CpG island demethylation. Acts upstream of or within cytidine to uridine editing. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "apolipoprotein B mRNA editing enzyme catalytic subunit 2", "basicGeneticEntity": { "synonyms": [ "ARCD1", "ARP1", "C->U-editing enzyme APOBEC-2", "apolipoprotein B mRNA editing enzyme catalytic polypeptide like 2", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide 2", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2", "mRNA(cytosine(6666)) deaminase 2", "probable C->U-editing enzyme APOBEC-2" ], "secondaryIds": [ "RGD:1318670" ], "genomeLocations": [ { "strand": "+", "endPosition": 41064891, "chromosome": "6", "assembly": "GRCh38", "startPosition": 41053201 } ], "primaryId": "HGNC:605", "crossReferences": [ { "id": "ENSEMBL:ENSG00000124701" }, { "id": "NCBI_Gene:10930" }, { "id": "PANTHER:PTHR13857" }, { "id": "UniProtKB:Q9Y235" }, { "pages": [ "gene/references" ], "id": "RGD:1318670" }, { "pages": [ "gene" ], "id": "HGNC:605" }, { "id": "RGD:1318670" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOBEC3A", "geneSynopsis": "This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene lacks the zinc binding activity of other family members. The protein plays a role in immunity, by restricting transmission of foreign DNA such as viruses. One mechanism of foreign DNA restriction is deamination of foreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are also thought to be involved, as anti-viral effect is not dependent on deaminase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]", "soTermId": "SO:0001217", "name": "apolipoprotein B mRNA editing enzyme catalytic subunit 3A", "basicGeneticEntity": { "synonyms": [ "A3A", "ARP3", "DNA dC->dU-editing enzyme APOBEC-3A", "PHRBN", "apolipoprotein B mRNA editing enzyme catalytic polypeptide like 3A", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A", "bK150C2.1", "phorbolin 1", "phorbolin-1", "probable DNA dC->dU-editing enzyme APOBEC-3A" ], "secondaryIds": [ "RGD:1351728" ], "genomeLocations": [ { "strand": "+", "endPosition": 38963184, "chromosome": "22", "assembly": "GRCh38", "startPosition": 38952741 } ], "primaryId": "HGNC:17343", "crossReferences": [ { "id": "ENSEMBL:ENSG00000128383" }, { "id": "ENSEMBL:ENSG00000262156" }, { "id": "NCBI_Gene:200315" }, { "id": "PANTHER:PTHR13857" }, { "id": "UniProtKB:P31941" }, { "pages": [ "gene/references" ], "id": "RGD:1351728" }, { "pages": [ "gene" ], "id": "HGNC:17343" }, { "id": "RGD:1351728" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOBEC3A_B", "geneSynopsis": "This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene lacks the zinc binding activity of other family members. The protein plays a role in immunity, by restricting transmission of foreign DNA such as viruses. One mechanism of foreign DNA restriction is deamination of foreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are also thought to be involved, as anti-viral effect is not dependent on deaminase activity. The protein encoded by this gene is the same as that encoded by APOBEC3A; however, this gene is a hybrid gene that results from the deletion of approximately 29.5 kb of sequence between the APOBEC3A gene and the adjacent gene APOBEC3B. The breakpoints of the deletion are within the two genes, so the deletion hybrid is predicted to have the promoter and coding region of APOBEC3A, but the 3' UTR of APOBEC3B. [provided by RefSeq, Jul 2012]", "soTermId": "SO:0001217", "name": "APOBEC3A and APOBEC3B deletion hybrid", "basicGeneticEntity": { "synonyms": [ "A3A", "APOBEC3A", "DNA dC->dU-editing enzyme APOBEC-3A", "Phorbolin-1", "probable DNA dC->dU-editing enzyme APOBEC-3A", "putative DNA dC->dU-editing enzyme APOBEC-3A" ], "secondaryIds": [ "RGD:6906997" ], "genomeLocations": [ { "strand": "+", "endPosition": 38963184, "chromosome": "22", "assembly": "GRCh38", "startPosition": 38952741 } ], "primaryId": "HGNC:44196", "crossReferences": [ { "id": "ENSEMBL:ENSG00000262156" }, { "id": "ENSEMBL:ENSG00000128383" }, { "id": "NCBI_Gene:100913187" }, { "id": "PANTHER:PTHR13857" }, { "id": "UniProtKB:P31941" }, { "pages": [ "gene/references" ], "id": "RGD:6906997" }, { "pages": [ "gene" ], "id": "HGNC:44196" }, { "id": "RGD:6906997" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOBEC3AP1", "soTermId": "SO:0000336", "name": "apolipoprotein B mRNA editing enzyme catalytic subunit 3A pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:10755628" ], "genomeLocations": [ { "strand": "+", "endPosition": 170100104, "chromosome": "4", "assembly": "GRCh38", "startPosition": 170099818 } ], "primaryId": "HGNC:43835", "crossReferences": [ { "id": "ENSEMBL:ENSG00000248822" }, { "id": "NCBI_Gene:105377532" }, { "pages": [ "gene/references" ], "id": "RGD:10755628" }, { "pages": [ "gene" ], "id": "HGNC:43835" }, { "id": "RGD:10755628" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOBEC3B", "geneSynopsis": "This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. A hybrid gene results from the deletion of approximately 29.5 kb of sequence between this gene, APOBEC3B, and the adjacent gene APOBEC3A. The breakpoints of the deletion are within the two genes, so the deletion allele is predicted to have the promoter and coding region of APOBEC3A, but the 3' UTR of APOBEC3B. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]", "soTermId": "SO:0001217", "name": "apolipoprotein B mRNA editing enzyme catalytic subunit 3B", "basicGeneticEntity": { "synonyms": [ "A3B", "APOBEC1L", "ARCD3", "ARP4", "DJ742C19.2", "DNA dC->dU-editing enzyme APOBEC-3B", "FLJ21201", "PHRBNL", "apolipoprotein B mRNA editing enzyme catalytic polypeptide like 3B", "apolipoprotein B mRNA editing enzyme catalytic polypeptide-like 3B", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B", "bK150C2.2", "cytidine deaminase", "phorbolin 2", "phorbolin 3", "phorbolin-1-related protein", "phorbolin-2/3", "probable DNA dC->dU-editing enzyme APOBEC-3B" ], "secondaryIds": [ "RGD:1347030" ], "genomeLocations": [ { "strand": "+", "endPosition": 38992804, "chromosome": "22", "assembly": "GRCh38", "startPosition": 38982347 } ], "primaryId": "HGNC:17352", "crossReferences": [ { "id": "ENSEMBL:ENSG00000179750" }, { "id": "NCBI_Gene:9582" }, { "id": "PANTHER:PTHR13857" }, { "id": "UniProtKB:Q9UH17" }, { "pages": [ "gene/references" ], "id": "RGD:1347030" }, { "pages": [ "gene" ], "id": "HGNC:17352" }, { "id": "RGD:1347030" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOBEC3B-AS1", "geneSynopsis": "INTERACTS WITH 2-hydroxypropanoic acid; aristolochic acid A; rac-lactic acid", "soTermId": "SO:0001263", "name": "APOBEC3B antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6480861" ], "genomeLocations": [ { "strand": "-", "endPosition": 38998220, "chromosome": "22", "assembly": "GRCh38", "startPosition": 38991559 } ], "primaryId": "HGNC:43836", "crossReferences": [ { "id": "ENSEMBL:ENSG00000249310" }, { "id": "NCBI_Gene:100874530" }, { "pages": [ "gene/references" ], "id": "RGD:6480861" }, { "pages": [ "gene" ], "id": "HGNC:43836" }, { "id": "RGD:6480861" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOBEC3C", "geneSynopsis": "This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "apolipoprotein B mRNA editing enzyme catalytic subunit 3C", "basicGeneticEntity": { "synonyms": [ "A3C", "APOBEC1-like", "APOBEC1L", "ARDC2", "ARDC4", "ARP5", "DNA dC->dU-editing enzyme APOBEC-3C", "FLJ37251", "MGC19485", "PBI", "apolipoprotein B editing enzyme catalytic polypeptide-like 3C", "apolipoprotein B mRNA editing enzyme catalytic polypeptide like 3C", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C", "bK150C2.3", "phorbolin I", "probable DNA dC->dU-editing enzyme APOBEC-3C" ], "secondaryIds": [ "RGD:1317202" ], "genomeLocations": [ { "strand": "+", "endPosition": 39020352, "chromosome": "22", "assembly": "GRCh38", "startPosition": 39014224 } ], "primaryId": "HGNC:17353", "crossReferences": [ { "id": "ENSEMBL:ENSG00000244509" }, { "id": "NCBI_Gene:27350" }, { "id": "PANTHER:PTHR13857" }, { "id": "UniProtKB:Q9NRW3" }, { "pages": [ "gene/references" ], "id": "RGD:1317202" }, { "pages": [ "gene" ], "id": "HGNC:17353" }, { "id": "RGD:1317202" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOBEC3D", "geneSynopsis": "This gene is a member of the cytidine deaminase gene family. It is one of a group of related genes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1 and inhibit retroviruses, such as HIV, by deaminating cytosine residues in nascent retroviral cDNA. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "apolipoprotein B mRNA editing enzyme catalytic subunit 3D", "basicGeneticEntity": { "synonyms": [ "A3D", "A3DE", "APOBEC3DE", "APOBEC3E", "ARP6", "DNA dC->dU-editing enzyme APOBEC-3D", "apolipoprotein B mRNA editing enzyme catalytic polypeptide like 3D", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene", "probable DNA dC->dU-editing enzyme APOBEC-3D" ], "secondaryIds": [ "RGD:1349209" ], "genomeLocations": [ { "strand": "+", "endPosition": 39033277, "chromosome": "22", "assembly": "GRCh38", "startPosition": 39021113 } ], "primaryId": "HGNC:17354", "crossReferences": [ { "id": "ENSEMBL:ENSG00000243811" }, { "id": "NCBI_Gene:140564" }, { "id": "PANTHER:PTHR13857" }, { "id": "UniProtKB:Q96AK3" }, { "pages": [ "gene/references" ], "id": "RGD:1349209" }, { "pages": [ "gene" ], "id": "HGNC:17354" }, { "id": "RGD:1349209" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOBEC3F", "geneSynopsis": "This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "apolipoprotein B mRNA editing enzyme catalytic subunit 3F", "basicGeneticEntity": { "synonyms": [ "A3F", "ARP8", "BK150C2.4.MRNA", "DNA dC->dU-editing enzyme APOBEC-3F", "KA6", "MGC74891", "apolipoprotein B editing enzyme catalytic polypeptide-like 3F", "apolipoprotein B mRNA editing enzyme catalytic polypeptide like 3F", "apolipoprotein B mRNA editing enzyme cytidine deaminase", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F", "apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3F", "induced upon T-cell activation" ], "secondaryIds": [ "RGD:1345786" ], "genomeLocations": [ { "strand": "+", "endPosition": 39055972, "chromosome": "22", "assembly": "GRCh38", "startPosition": 39040604 } ], "primaryId": "HGNC:17356", "crossReferences": [ { "id": "ENSEMBL:ENSG00000128394" }, { "id": "NCBI_Gene:200316" }, { "id": "PANTHER:PTHR13857" }, { "id": "UniProtKB:Q8IUX4" }, { "pages": [ "gene/references" ], "id": "RGD:1345786" }, { "pages": [ "gene" ], "id": "HGNC:17356" }, { "id": "RGD:1345786" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOBEC3G", "geneSynopsis": "This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene catalyzes site-specific deamination of both RNA and single-stranded DNA. The encoded protein has been found to be a specific inhibitor of human immunodeficiency virus-1 (HIV-1) infectivity. [provided by RefSeq, Mar 2017]", "soTermId": "SO:0001217", "name": "apolipoprotein B mRNA editing enzyme catalytic subunit 3G", "basicGeneticEntity": { "synonyms": [ "A3G", "APOBEC-related cytidine deaminase", "APOBEC-related protein 9", "ARCD", "ARP-9", "ARP9", "CEM-15", "CEM15", "DNA dC->dU editing enzyme", "DNA dC->dU-editing enzyme APOBEC-3G", "FLJ12740", "MDS019", "apolipoprotein B editing enzyme catalytic polypeptide-like 3G", "apolipoprotein B mRNA editing enzyme catalytic polypeptide like 3G", "apolipoprotein B mRNA editing enzyme cytidine deaminase", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G", "apolipoprotein B mRNA-editing enzyme catalytic polypeptide 3G", "bK150C2.7", "dJ494G10.1", "deoxycytidine deaminase", "phorbolin-like protein MDS019" ], "secondaryIds": [ "RGD:1349849" ], "genomeLocations": [ { "strand": "+", "endPosition": 39087743, "chromosome": "22", "assembly": "GRCh38", "startPosition": 39077005 } ], "primaryId": "HGNC:17357", "crossReferences": [ { "id": "ENSEMBL:ENSG00000239713" }, { "id": "NCBI_Gene:60489" }, { "id": "PANTHER:PTHR13857" }, { "id": "UniProtKB:Q9HC16" }, { "pages": [ "gene/references" ], "id": "RGD:1349849" }, { "pages": [ "gene" ], "id": "HGNC:17357" }, { "id": "RGD:1349849" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOBEC3H", "geneSynopsis": "This gene encodes a member of the apolipoprotein B mRNA-editing enzyme catalytic polypeptide 3 family of proteins. The encoded protein is a cytidine deaminase that has antiretroviral activity by generating lethal hypermutations in viral genomes. Polymorphisms and alternative splicing in this gene influence its antiretroviral activity and are associated with increased resistence to human immunodeficiency virus type 1 infection in certain populations. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]", "soTermId": "SO:0001217", "name": "apolipoprotein B mRNA editing enzyme catalytic subunit 3H", "basicGeneticEntity": { "synonyms": [ "A3H", "APOBEC-related protein 10", "ARP-10", "ARP10", "DNA dC->dU-editing enzyme APOBEC-3H", "apolipoprotein B editing enzyme catalytic polypeptide-like 3H", "apolipoprotein B mRNA editing enzyme catalytic polypeptide like 3H", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H", "apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3H", "dJ742C19.2" ], "secondaryIds": [ "RGD:1604731" ], "genomeLocations": [ { "strand": "+", "endPosition": 39104067, "chromosome": "22", "assembly": "GRCh38", "startPosition": 39097224 } ], "primaryId": "HGNC:24100", "crossReferences": [ { "id": "ENSEMBL:ENSG00000100298" }, { "id": "NCBI_Gene:164668" }, { "id": "PANTHER:PTHR13857" }, { "id": "UniProtKB:Q6NTF7" }, { "pages": [ "gene/references" ], "id": "RGD:1604731" }, { "pages": [ "gene" ], "id": "HGNC:24100" }, { "id": "RGD:1604731" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOBEC4", "geneSynopsis": "This gene encodes a member of the AID/APOBEC family of polynucleotide (deoxy)cytidine deaminases, which convert cytidine to uridine. Other AID/APOBEC family members are involved in mRNA editing, somatic hypermutation and recombination of immunoglobulin genes, and innate immunity to retroviral infection. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4", "basicGeneticEntity": { "synonyms": [ "C1orf169", "MGC26594", "apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 (putative)", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)", "apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 4", "putative C->U-editing enzyme APOBEC-4", "putative deaminase APOBEC-4" ], "secondaryIds": [ "RGD:1606067" ], "genomeLocations": [ { "strand": "-", "endPosition": 183653316, "chromosome": "1", "assembly": "GRCh38", "startPosition": 183646275 } ], "primaryId": "HGNC:32152", "crossReferences": [ { "id": "ENSEMBL:ENSG00000173627" }, { "id": "NCBI_Gene:403314" }, { "id": "PANTHER:PTHR35672" }, { "id": "UniProtKB:Q8WW27" }, { "pages": [ "gene/references" ], "id": "RGD:1606067" }, { "pages": [ "gene" ], "id": "HGNC:32152" }, { "id": "RGD:1606067" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOBR", "geneSynopsis": "Apolipoprotein B48 receptor is a macrophage receptor that binds to the apolipoprotein B48 of dietary triglyceride (TG)-rich lipoproteins. This receptor may provide essential lipids, lipid-soluble vitamins and other nutrients to reticuloendothelial cells. If overwhelmed with elevated plasma triglyceride, the apolipoprotein B48 receptor may contribute to foam cell formation, endothelial dysfunction, and atherothrombogenesis. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "apolipoprotein B receptor", "basicGeneticEntity": { "synonyms": [ "APOB100R", "APOB48R", "apoB-48R", "apolipoprotein B-100 receptor", "apolipoprotein B-48 receptor", "apolipoprotein B100 receptor", "apolipoprotein B48 receptor" ], "secondaryIds": [ "RGD:1607021" ], "genomeLocations": [ { "strand": "+", "endPosition": 28498964, "chromosome": "16", "assembly": "GRCh38", "startPosition": 28494639 } ], "primaryId": "HGNC:24087", "crossReferences": [ { "id": "ENSEMBL:ENSG00000184730" }, { "id": "NCBI_Gene:55911" }, { "id": "PANTHER:PTHR15964" }, { "id": "UniProtKB:Q0VD83" }, { "pages": [ "gene/references" ], "id": "RGD:1607021" }, { "pages": [ "gene" ], "id": "HGNC:24087" }, { "id": "RGD:1607021" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOC1", "geneSynopsis": "This gene encodes a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. The encoded protein plays a central role in high density lipoprotein (HDL) and very low density lipoprotein (VLDL) metabolism. This protein has also been shown to inhibit cholesteryl ester transfer protein in plasma. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Sep 2016]", "soTermId": "SO:0001217", "name": "apolipoprotein C1", "basicGeneticEntity": { "synonyms": [ "APOC1B", "Apo-CI", "ApoC-I", "apo-CIB", "apoC-IB", "apolipoprotein C-I", "apolipoprotein C-I variant I", "apolipoprotein C-I variant II" ], "secondaryIds": [ "RGD:735472" ], "genomeLocations": [ { "strand": "+", "endPosition": 44920054, "chromosome": "19", "assembly": "GRCh38", "startPosition": 44913133 } ], "primaryId": "HGNC:607", "crossReferences": [ { "id": "ENSEMBL:ENSG00000130208" }, { "id": "NCBI_Gene:341" }, { "id": "PANTHER:PTHR16565" }, { "id": "UniProtKB:P02654" }, { "pages": [ "gene/references" ], "id": "RGD:735472" }, { "pages": [ "gene" ], "id": "HGNC:607" }, { "id": "RGD:735472" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOC1P1", "geneSynopsis": "INTERACTS WITH aflatoxin B1; benzo[a]pyrene; bisphenol A", "soTermId": "SO:0000336", "name": "apolipoprotein C1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "APOC1P", "ApoC-IA", "DKFZp781C1677", "apolipoprotein C-I pseudogene 1" ], "secondaryIds": [ "RGD:1342905" ], "genomeLocations": [ { "strand": "+", "endPosition": 44931503, "chromosome": "19", "assembly": "GRCh38", "startPosition": 44925941 } ], "primaryId": "HGNC:608", "crossReferences": [ { "id": "ENSEMBL:ENSG00000291128" }, { "id": "ENSEMBL:ENSG00000214855" }, { "id": "NCBI_Gene:342" }, { "pages": [ "gene/references" ], "id": "RGD:1342905" }, { "pages": [ "gene" ], "id": "HGNC:608" }, { "id": "RGD:1342905" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOC2", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "apolipoprotein C2", "basicGeneticEntity": { "synonyms": [ "APO-CII", "APOC-II", "MGC75082", "apolipoprotein C-II" ], "secondaryIds": [ "RGD:1352001" ], "genomeLocations": [ { "strand": "+", "endPosition": 44949580, "chromosome": "19", "assembly": "GRCh38", "startPosition": 44945709 } ], "primaryId": "HGNC:609", "crossReferences": [ { "id": "ENSEMBL:ENSG00000234906" }, { "id": "NCBI_Gene:344" }, { "id": "PANTHER:PTHR16566" }, { "id": "UniProtKB:P02655" }, { "pages": [ "gene/references" ], "id": "RGD:1352001" }, { "pages": [ "gene" ], "id": "HGNC:609" }, { "id": "RGD:1352001" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOC3", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "apolipoprotein C3", "basicGeneticEntity": { "synonyms": [ "APOCIII", "Apo-C3", "ApoC-3", "HALP2", "MGC150353", "apo-CIII", "apoC-III", "apolipoprotein C-III" ], "secondaryIds": [ "RGD:737569" ], "genomeLocations": [ { "strand": "+", "endPosition": 116833343, "chromosome": "11", "assembly": "GRCh38", "startPosition": 116827019 } ], "primaryId": "HGNC:610", "crossReferences": [ { "id": "ENSEMBL:ENSG00000110245" }, { "id": "NCBI_Gene:345" }, { "id": "PANTHER:PTHR14225" }, { "id": "UniProtKB:P02656" }, { "pages": [ "gene/references" ], "id": "RGD:737569" }, { "pages": [ "gene" ], "id": "HGNC:610" }, { "id": "RGD:737569" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOC4", "geneSynopsis": "This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is thought to play a role in lipid metabolism. Polymorphisms in this gene may influence circulating lipid levels and may be associated with coronary artery disease risk. 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 downstream apolipoprotein C-II (APOC2) gene. [provided by RefSeq, Mar 2011]", "soTermId": "SO:0001217", "name": "apolipoprotein C4", "basicGeneticEntity": { "synonyms": [ "APO-CIV", "APOC-IV", "apolipoprotein C-IV" ], "secondaryIds": [ "RGD:736043" ], "genomeLocations": [ { "strand": "+", "endPosition": 44945496, "chromosome": "19", "assembly": "GRCh38", "startPosition": 44942235 } ], "primaryId": "HGNC:611", "crossReferences": [ { "id": "ENSEMBL:ENSG00000267467" }, { "id": "NCBI_Gene:346" }, { "id": "PANTHER:PTHR32288" }, { "id": "UniProtKB:P55056" }, { "pages": [ "gene/references" ], "id": "RGD:736043" }, { "pages": [ "gene" ], "id": "HGNC:611" }, { "id": "RGD:736043" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOC4-APOC2", "geneSynopsis": "This locus represents naturally occurring read-through transcription between the neighboring apolipoprotein C-IV (APOC4) and apolipoprotein C-II (APOC2) genes on chromosome 19. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Mar 2011]", "soTermId": "SO:0001263", "name": "APOC4-APOC2 readthrough (NMD candidate)", "basicGeneticEntity": { "synonyms": [ "APOC4", "Apo-CIV", "ApoC-IV" ], "secondaryIds": [ "RGD:7379003" ], "genomeLocations": [ { "strand": "+", "endPosition": 44949565, "chromosome": "19", "assembly": "GRCh38", "startPosition": 44942238 } ], "primaryId": "HGNC:44426", "crossReferences": [ { "id": "ENSEMBL:ENSG00000224916" }, { "id": "NCBI_Gene:100533990" }, { "id": "PANTHER:PTHR16566" }, { "id": "UniProtKB:K7ER74" }, { "pages": [ "gene/references" ], "id": "RGD:7379003" }, { "pages": [ "gene" ], "id": "HGNC:44426" }, { "id": "RGD:7379003" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOD", "geneSynopsis": "This gene encodes a component of high density lipoprotein that has no marked similarity to other apolipoprotein sequences. It has a high degree of homology to plasma retinol-binding protein and other members of the alpha 2 microglobulin protein superfamily of carrier proteins, also known as lipocalins. This glycoprotein is closely associated with the enzyme lecithin:cholesterol acyltransferase - an enzyme involved in lipoprotein metabolism. [provided by RefSeq, Aug 2008]", "soTermId": "SO:0001217", "name": "apolipoprotein D", "basicGeneticEntity": { "synonyms": [ "apo-D" ], "secondaryIds": [ "RGD:737460" ], "genomeLocations": [ { "strand": "-", "endPosition": 195584033, "chromosome": "3", "assembly": "GRCh38", "startPosition": 195568705 } ], "primaryId": "HGNC:612", "crossReferences": [ { "id": "ENSEMBL:ENSG00000189058" }, { "id": "NCBI_Gene:347" }, { "id": "PANTHER:PTHR10612" }, { "id": "UniProtKB:P05090" }, { "pages": [ "gene/references" ], "id": "RGD:737460" }, { "pages": [ "gene" ], "id": "HGNC:612" }, { "id": "RGD:737460" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOE", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "apolipoprotein E", "basicGeneticEntity": { "synonyms": [ "AD2", "Alzheimer disease 2 (APOE*E4-associated, late onset)", "ApoE4", "LDLCQ5", "LPG", "MGC1571", "apo-E", "apolipoprotein E3" ], "secondaryIds": [ "RGD:736378" ], "genomeLocations": [ { "strand": "+", "endPosition": 44909396, "chromosome": "19", "assembly": "GRCh38", "startPosition": 44903787 } ], "primaryId": "HGNC:613", "crossReferences": [ { "id": "ENSEMBL:ENSG00000130203" }, { "id": "NCBI_Gene:348" }, { "id": "PANTHER:PTHR18976" }, { "id": "UniProtKB:P02649" }, { "pages": [ "gene/references" ], "id": "RGD:736378" }, { "pages": [ "gene" ], "id": "HGNC:613" }, { "id": "RGD:736378" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOF", "geneSynopsis": "The product of this gene is one of the minor apolipoproteins found in plasma. This protein forms complexes with lipoproteins and may be involved in transport and/or esterification of cholesterol. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "apolipoprotein F", "basicGeneticEntity": { "synonyms": [ "Apo-F", "DKFZp781G18150", "LTIP", "MGC22520", "lipid transfer inhibitor protein" ], "secondaryIds": [ "RGD:1344329" ], "genomeLocations": [ { "strand": "-", "endPosition": 56362857, "chromosome": "12", "assembly": "GRCh38", "startPosition": 56360568 } ], "primaryId": "HGNC:615", "crossReferences": [ { "id": "ENSEMBL:ENSG00000175336" }, { "id": "NCBI_Gene:319" }, { "id": "PANTHER:PTHR15011" }, { "id": "UniProtKB:Q13790" }, { "pages": [ "gene/references" ], "id": "RGD:1344329" }, { "pages": [ "gene" ], "id": "HGNC:615" }, { "id": "RGD:1344329" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOH", "geneSynopsis": "Apolipoprotein H, also known as beta-2-glycoprotein I, is a component of circulating plasma lipoproteins. It has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, hemostasis, and the production of antiphospholipid autoantibodies. APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome (APS). The anti-beta (2) glycoprotein I antibodies from APS patients, mediate inhibition of activated protein C which has anticoagulant properties. Because beta-2-GPI is the main autoantigen in patients with APS, the disruption of this pathway by autoantibodies may be an important mechanism for thrombosis in patients with APS.[provided by RefSeq, Dec 2019]", "soTermId": "SO:0001217", "name": "apolipoprotein H", "basicGeneticEntity": { "synonyms": [ "APC inhibitor", "B2G1", "B2GP1", "B2GPI", "BG", "activated protein C-binding protein", "anticardiolipin cofactor", "apo-H", "apolipoprotein H (beta-2-glycoprotein I)", "beta(2)GPI", "beta-2-glycoprotein 1" ], "secondaryIds": [ "RGD:1321637" ], "genomeLocations": [ { "strand": "-", "endPosition": 66256525, "chromosome": "17", "assembly": "GRCh38", "startPosition": 66211595 } ], "primaryId": "HGNC:616", "crossReferences": [ { "id": "ENSEMBL:ENSG00000091583" }, { "id": "NCBI_Gene:350" }, { "id": "PANTHER:PTHR46393" }, { "id": "UniProtKB:P02749" }, { "pages": [ "gene/references" ], "id": "RGD:1321637" }, { "pages": [ "gene" ], "id": "HGNC:616" }, { "id": "RGD:1321637" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOL1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "apolipoprotein L1", "basicGeneticEntity": { "synonyms": [ "APO-L", "APOL", "APOL-I", "FSGS4", "apolipoprotein L 1", "apolipoprotein L, 1", "apolipoprotein L-I", "apolipoprotein L1-B3" ], "secondaryIds": [ "RGD:1348736" ], "genomeLocations": [ { "strand": "+", "endPosition": 36267530, "chromosome": "22", "assembly": "GRCh38", "startPosition": 36253071 } ], "primaryId": "HGNC:618", "crossReferences": [ { "id": "ENSEMBL:ENSG00000100342" }, { "id": "NCBI_Gene:8542" }, { "id": "PANTHER:PTHR14096" }, { "id": "UniProtKB:O14791" }, { "pages": [ "gene/references" ], "id": "RGD:1348736" }, { "pages": [ "gene" ], "id": "HGNC:618" }, { "id": "RGD:1348736" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOL2", "geneSynopsis": "This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "apolipoprotein L2", "basicGeneticEntity": { "synonyms": [ "APOL-II", "APOL3", "apolipoprotein L, 2", "apolipoprotein L-II" ], "secondaryIds": [ "RGD:1320008" ], "genomeLocations": [ { "strand": "-", "endPosition": 36239954, "chromosome": "22", "assembly": "GRCh38", "startPosition": 36226209 } ], "primaryId": "HGNC:619", "crossReferences": [ { "id": "ENSEMBL:ENSG00000128335" }, { "id": "NCBI_Gene:23780" }, { "id": "PANTHER:PTHR14096" }, { "id": "UniProtKB:Q9BQE5" }, { "pages": [ "gene/references" ], "id": "RGD:1320008" }, { "pages": [ "gene" ], "id": "HGNC:619" }, { "id": "RGD:1320008" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOL3", "geneSynopsis": "This gene is a member of the apolipoprotein L gene family, and it is present in a cluster with other family members on chromosome 22. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids, including cholesterol, and/or allow the binding of lipids to organelles. In addition, expression of this gene is up-regulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]", "soTermId": "SO:0001217", "name": "apolipoprotein L3", "basicGeneticEntity": { "synonyms": [ "APOLIII", "CG121", "CG12_1", "TNF-inducible protein CG12-1", "apoL-III", "apolipoprotein L, 3", "apolipoprotein L-III", "apolipoprotein L-III splice variant alpha", "apolipoprotein L-III splice variant beta" ], "secondaryIds": [ "RGD:1315120" ], "genomeLocations": [ { "strand": "-", "endPosition": 36166177, "chromosome": "22", "assembly": "GRCh38", "startPosition": 36139792 } ], "primaryId": "HGNC:14868", "crossReferences": [ { "id": "ENSEMBL:ENSG00000128284" }, { "id": "NCBI_Gene:80833" }, { "id": "PANTHER:PTHR14096" }, { "id": "UniProtKB:O95236" }, { "pages": [ "gene/references" ], "id": "RGD:1315120" }, { "pages": [ "gene" ], "id": "HGNC:14868" }, { "id": "RGD:1315120" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOL4", "geneSynopsis": "This gene encodes a member of the apolipoprotein L family. The encoded protein 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2020]", "soTermId": "SO:0001217", "name": "apolipoprotein L4", "basicGeneticEntity": { "synonyms": [ "APOL-IV", "APOLIV", "apolipoprotein L, 4", "apolipoprotein L-IV" ], "secondaryIds": [ "RGD:1343358" ], "genomeLocations": [ { "strand": "-", "endPosition": 36204840, "chromosome": "22", "assembly": "GRCh38", "startPosition": 36189124 } ], "primaryId": "HGNC:14867", "crossReferences": [ { "id": "ENSEMBL:ENSG00000100336" }, { "id": "NCBI_Gene:80832" }, { "id": "PANTHER:PTHR14096" }, { "id": "UniProtKB:Q9BPW4" }, { "pages": [ "gene/references" ], "id": "RGD:1343358" }, { "pages": [ "gene" ], "id": "HGNC:14867" }, { "id": "RGD:1343358" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOL5", "geneSynopsis": "This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "apolipoprotein L5", "basicGeneticEntity": { "synonyms": [ "APOL-V", "APOLV", "apolipoprotein L, 5", "apolipoprotein L-V" ], "secondaryIds": [ "RGD:1347333" ], "genomeLocations": [ { "strand": "+", "endPosition": 35729483, "chromosome": "22", "assembly": "GRCh38", "startPosition": 35708424 } ], "primaryId": "HGNC:14869", "crossReferences": [ { "id": "ENSEMBL:ENSG00000128313" }, { "id": "NCBI_Gene:80831" }, { "id": "PANTHER:PTHR14096" }, { "id": "UniProtKB:Q9BWW9" }, { "pages": [ "gene/references" ], "id": "RGD:1347333" }, { "pages": [ "gene" ], "id": "HGNC:14869" }, { "id": "RGD:1347333" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOL6", "geneSynopsis": "This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "apolipoprotein L6", "basicGeneticEntity": { "synonyms": [ "APOL-VI", "APOLVI", "DKFZp667M075", "FLJ38562", "FLJ90164", "MGC57495", "apolipoprotein L, 6", "apolipoprotein L-VI" ], "secondaryIds": [ "RGD:1353798" ], "genomeLocations": [ { "strand": "+", "endPosition": 35668404, "chromosome": "22", "assembly": "GRCh38", "startPosition": 35648386 } ], "primaryId": "HGNC:14870", "crossReferences": [ { "id": "ENSEMBL:ENSG00000221963" }, { "id": "NCBI_Gene:80830" }, { "id": "PANTHER:PTHR14096" }, { "id": "UniProtKB:Q9BWW8" }, { "pages": [ "gene/references" ], "id": "RGD:1353798" }, { "pages": [ "gene" ], "id": "HGNC:14870" }, { "id": "RGD:1353798" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOLD1", "geneSynopsis": "APOLD1 is an endothelial cell early response protein that may play a role in regulation of endothelial cell signaling and vascular function (Regard et al., 2004 [PubMed 15102925]).[supplied by OMIM, Dec 2008]", "soTermId": "SO:0001217", "name": "apolipoprotein L domain containing 1", "basicGeneticEntity": { "synonyms": [ "BDVAS", "DKFZp434F0318", "FLJ25138", "FLJ95166", "VERGE", "apolipoprotein L domain-containing protein 1", "vascular early response gene protein" ], "secondaryIds": [ "RGD:1604585" ], "genomeLocations": [ { "strand": "+", "endPosition": 12829975, "chromosome": "12", "assembly": "GRCh38", "startPosition": 12725917 } ], "primaryId": "HGNC:25268", "crossReferences": [ { "id": "ENSEMBL:ENSG00000178878" }, { "id": "NCBI_Gene:81575" }, { "id": "PANTHER:PTHR14096" }, { "id": "UniProtKB:Q96LR9" }, { "pages": [ "gene/references" ], "id": "RGD:1604585" }, { "pages": [ "gene" ], "id": "HGNC:25268" }, { "id": "RGD:1604585" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOLTP", "geneSynopsis": "ENCODES a protein that exhibits lipid carrier activity (inferred); INVOLVED IN lipid transport (inferred)", "soTermId": "SO:0001217", "name": "apolipoprotein lipid transfer particle homolog", "basicGeneticEntity": { "synonyms": [ "LOC400499", "hypothetical protein LOC400499", "putative uncharacterized protein LOC400499", "uncharacterized LOC400499", "uncharacterized protein LOC400499", "vitellogenin" ], "secondaryIds": [ "RGD:4140188" ], "genomeLocations": [ { "strand": "-", "endPosition": 11527577, "chromosome": "16", "assembly": "GRCh38", "startPosition": 11359845 } ], "primaryId": "HGNC:53879", "crossReferences": [ { "id": "ENSEMBL:ENSG00000188897" }, { "id": "NCBI_Gene:400499" }, { "id": "PANTHER:PTHR37860" }, { "id": "UniProtKB:Q6ZTK2" }, { "pages": [ "gene/references" ], "id": "RGD:4140188" }, { "pages": [ "gene" ], "id": "HGNC:53879" }, { "id": "RGD:4140188" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOM", "geneSynopsis": "The protein encoded by this gene is an apolipoprotein and member of the lipocalin protein family. It is found associated with high density lipoproteins and to a lesser extent with low density lipoproteins and triglyceride-rich lipoproteins. The encoded protein is secreted through the plasma membrane but remains membrane-bound, where it is involved in lipid transport. Alternate splicing results in both coding and non-coding variants of this gene. [provided by RefSeq, Jan 2012]", "soTermId": "SO:0001217", "name": "apolipoprotein M", "basicGeneticEntity": { "synonyms": [ "G3a", "HSPC336", "MGC22400", "NG20", "NG20-like protein", "alternative name: G3a, NG20", "apo-M" ], "secondaryIds": [ "RGD:1351807" ], "genomeLocations": [ { "strand": "+", "endPosition": 31658210, "chromosome": "6", "assembly": "GRCh38", "startPosition": 31652404 } ], "primaryId": "HGNC:13916", "crossReferences": [ { "id": "ENSEMBL:ENSG00000226215" }, { "id": "ENSEMBL:ENSG00000204444" }, { "id": "ENSEMBL:ENSG00000206409" }, { "id": "ENSEMBL:ENSG00000235754" }, { "id": "ENSEMBL:ENSG00000231974" }, { "id": "ENSEMBL:ENSG00000227567" }, { "id": "ENSEMBL:ENSG00000224290" }, { "id": "NCBI_Gene:55937" }, { "id": "PANTHER:PTHR32028" }, { "id": "UniProtKB:O95445" }, { "pages": [ "gene/references" ], "id": "RGD:1351807" }, { "pages": [ "gene" ], "id": "HGNC:13916" }, { "id": "RGD:1351807" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APONP", "geneSynopsis": "ASSOCIATED WITH Experimental Liver Cirrhosis (ortholog); INTERACTS WITH (1->4)-beta-D-glucan (ortholog); 17beta-estradiol (ortholog); 2,3,7,8-tetrachlorodibenzodioxine (ortholog)", "soTermId": "SO:0000336", "name": "apolipoprotein N, pseudogene", "basicGeneticEntity": { "secondaryIds": [ "RGD:13708590" ], "genomeLocations": [ { "strand": "-", "endPosition": 56377450, "chromosome": "12", "assembly": "GRCh38", "startPosition": 56376748 } ], "primaryId": "HGNC:53942", "crossReferences": [ { "id": "ENSEMBL:ENSG00000274823" }, { "id": "NCBI_Gene:100419033" }, { "pages": [ "gene/references" ], "id": "RGD:13708590" }, { "pages": [ "gene" ], "id": "HGNC:53942" }, { "id": "RGD:13708590" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOO", "geneSynopsis": "This gene is a member of the apolipoprotein family. Members of this protein family are involved in the transport and metabolism of lipids. The encoded protein associates with HDL, LDL and VLDL lipoproteins and is characterized by chondroitin-sulfate glycosylation. This protein may be involved in preventing lipid accumulation in the myocardium in obese and diabetic patients. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 4, 5, 12 and 16.[provided by RefSeq, Sep 2009]", "soTermId": "SO:0001217", "name": "apolipoprotein O", "basicGeneticEntity": { "synonyms": [ "FAM121B", "MGC4825", "MIC26", "MICOS complex subunit MIC23", "MICOS complex subunit MIC26", "MICOS26", "MYO25", "Mic23", "My025", "brain my025", "family with sequence similarity 121B", "mitochondrial contact site and cristae organizing system subunit 26" ], "secondaryIds": [ "RGD:1603962" ], "genomeLocations": [ { "strand": "-", "endPosition": 23908070, "chromosome": "X", "assembly": "GRCh38", "startPosition": 23833353 } ], "primaryId": "HGNC:28727", "crossReferences": [ { "id": "ENSEMBL:ENSG00000184831" }, { "id": "NCBI_Gene:79135" }, { "id": "PANTHER:PTHR14564" }, { "id": "UniProtKB:Q9BUR5" }, { "pages": [ "gene/references" ], "id": "RGD:1603962" }, { "pages": [ "gene" ], "id": "HGNC:28727" }, { "id": "RGD:1603962" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOOL", "geneSynopsis": "This gene encodes a protein which contains an apolipoprotein O superfamily domain. This domain is found on proteins in circulating lipoprotein complexes. [provided by RefSeq, Sep 2011]", "soTermId": "SO:0001217", "name": "apolipoprotein O like", "basicGeneticEntity": { "synonyms": [ "AAIR8193", "CXorf33", "FAM121A", "MGC129748", "MICOS complex subunit MIC27", "MICOS27", "Mic27", "UNQ8193", "apolipoprotein O-like", "chromosome x open reading frame 33", "family with sequence similarity 121A", "mitochondrial contact site and cristae organizing system subunit 27" ], "secondaryIds": [ "RGD:1351827" ], "genomeLocations": [ { "strand": "+", "endPosition": 85093315, "chromosome": "X", "assembly": "GRCh38", "startPosition": 85003871 } ], "primaryId": "HGNC:24009", "crossReferences": [ { "id": "ENSEMBL:ENSG00000155008" }, { "id": "NCBI_Gene:139322" }, { "id": "PANTHER:PTHR14564" }, { "id": "UniProtKB:Q6UXV4" }, { "pages": [ "gene/references" ], "id": "RGD:1351827" }, { "pages": [ "gene" ], "id": "HGNC:24009" }, { "id": "RGD:1351827" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOOP1", "soTermId": "SO:0000336", "name": "apolipoprotein O pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:7246228" ], "genomeLocations": [ { "strand": "+", "endPosition": 156924999, "chromosome": "5", "assembly": "GRCh38", "startPosition": 156924089 } ], "primaryId": "HGNC:48739", "crossReferences": [ { "id": "ENSEMBL:ENSG00000270560" }, { "id": "NCBI_Gene:100286948" }, { "pages": [ "gene/references" ], "id": "RGD:7246228" }, { "pages": [ "gene" ], "id": "HGNC:48739" }, { "id": "RGD:7246228" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOOP2", "soTermId": "SO:0000336", "name": "apolipoprotein O pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:7246281" ], "genomeLocations": [ { "strand": "+", "endPosition": 87595384, "chromosome": "3", "assembly": "GRCh38", "startPosition": 87594806 } ], "primaryId": "HGNC:48740", "crossReferences": [ { "id": "ENSEMBL:ENSG00000240902" }, { "id": "NCBI_Gene:100129005" }, { "pages": [ "gene/references" ], "id": "RGD:7246281" }, { "pages": [ "gene" ], "id": "HGNC:48740" }, { "id": "RGD:7246281" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOOP3", "soTermId": "SO:0000336", "name": "apolipoprotein O pseudogene 3", "basicGeneticEntity": { "secondaryIds": [ "RGD:7246214" ], "genomeLocations": [ { "strand": "+", "endPosition": 65135548, "chromosome": "12", "assembly": "GRCh38", "startPosition": 65134661 } ], "primaryId": "HGNC:48741", "crossReferences": [ { "id": "ENSEMBL:ENSG00000255700" }, { "id": "NCBI_Gene:100131528" }, { "pages": [ "gene/references" ], "id": "RGD:7246214" }, { "pages": [ "gene" ], "id": "HGNC:48741" }, { "id": "RGD:7246214" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOOP4", "soTermId": "SO:0000336", "name": "apolipoprotein O pseudogene 4", "basicGeneticEntity": { "secondaryIds": [ "RGD:7246620" ], "genomeLocations": [ { "strand": "-", "endPosition": 68304966, "chromosome": "4", "assembly": "GRCh38", "startPosition": 68304202 } ], "primaryId": "HGNC:48742", "crossReferences": [ { "id": "ENSEMBL:ENSG00000248122" }, { "id": "NCBI_Gene:100128725" }, { "pages": [ "gene/references" ], "id": "RGD:7246620" }, { "pages": [ "gene" ], "id": "HGNC:48742" }, { "id": "RGD:7246620" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APOOP5", "geneSynopsis": "INTERACTS WITH benzo[a]pyrene; valproic acid", "soTermId": "SO:0000336", "name": "apolipoprotein O pseudogene 5", "basicGeneticEntity": { "secondaryIds": [ "RGD:7246270" ], "genomeLocations": [ { "strand": "-", "endPosition": 59755191, "chromosome": "16", "assembly": "GRCh38", "startPosition": 59754132 } ], "primaryId": "HGNC:48743", "crossReferences": [ { "id": "ENSEMBL:ENSG00000260240" }, { "id": "NCBI_Gene:644649" }, { "pages": [ "gene/references" ], "id": "RGD:7246270" }, { "pages": [ "gene" ], "id": "HGNC:48743" }, { "id": "RGD:7246270" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APP", "geneSynopsis": "This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. In addition, two of the peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2014]", "soTermId": "SO:0001217", "name": "amyloid beta precursor protein", "basicGeneticEntity": { "synonyms": [ "AAA", "ABETA", "ABPP", "AD1", "APPI", "CTFgamma", "CVAP", "PN-II", "PN2", "alpha-sAPP", "alzheimer disease amyloid A4 protein homolog", "alzheimer disease amyloid protein", "amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease)", "amyloid beta A4 protein", "beta-amyloid peptide", "beta-amyloid peptide(1-40)", "beta-amyloid peptide(1-42)", "cerebral vascular amyloid peptide", "peptidase nexin-II", "preA4", "protease nexin-II", "testicular tissue protein Li 2" ], "secondaryIds": [ "RGD:736021" ], "genomeLocations": [ { "strand": "-", "endPosition": 26171128, "chromosome": "21", "assembly": "GRCh38", "startPosition": 25880535 } ], "primaryId": "HGNC:620", "crossReferences": [ { "id": "ENSEMBL:ENSG00000142192" }, { "id": "NCBI_Gene:351" }, { "id": "PANTHER:PTHR23103" }, { "id": "UniProtKB:P05067" }, { "pages": [ "gene/references" ], "id": "RGD:736021" }, { "pages": [ "gene" ], "id": "HGNC:620" }, { "id": "RGD:736021" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APP-DT", "soTermId": "SO:0001263", "name": "APP divergent transcript", "basicGeneticEntity": { "secondaryIds": [ "RGD:39128274" ], "genomeLocations": [ { "strand": "+", "endPosition": 26217384, "chromosome": "21", "assembly": "GRCh38", "startPosition": 26170867 } ], "primaryId": "HGNC:55075", "crossReferences": [ { "id": "ENSEMBL:ENSG00000273492" }, { "id": "NCBI_Gene:118568803" }, { "pages": [ "gene/references" ], "id": "RGD:39128274" }, { "pages": [ "gene" ], "id": "HGNC:55075" }, { "id": "RGD:39128274" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APPAT", "soTermId": "SO:0001263", "name": "atherosclerotic plaque pathogenesis associated transcript", "basicGeneticEntity": { "synonyms": [ "LINC02969", "LOC100506123", "long intergenic non-protein coding RNA 2969", "uncharacterized LOC100506123" ], "secondaryIds": [ "RGD:38621461" ], "genomeLocations": [ { "strand": "-", "endPosition": 97424027, "chromosome": "2", "assembly": "GRCh38", "startPosition": 97416165 } ], "primaryId": "HGNC:56009", "crossReferences": [ { "id": "NCBI_Gene:100506123" }, { "pages": [ "gene/references" ], "id": "RGD:38621461" }, { "pages": [ "gene" ], "id": "HGNC:56009" }, { "id": "RGD:38621461" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APPBP2", "geneSynopsis": "The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]", "soTermId": "SO:0001217", "name": "amyloid beta precursor protein binding protein 2", "basicGeneticEntity": { "synonyms": [ "APP-BP2", "HS.84084", "KIAA0228", "PAT1", "amyloid beta precursor protein (cytoplasmic tail) binding protein 2", "amyloid beta precursor protein-binding protein 2", "amyloid protein-binding protein 2", "protein interacting with APP tail 1" ], "secondaryIds": [ "RGD:1315134" ], "genomeLocations": [ { "strand": "-", "endPosition": 60526242, "chromosome": "17", "assembly": "GRCh38", "startPosition": 60443158 } ], "primaryId": "HGNC:622", "crossReferences": [ { "id": "ENSEMBL:ENSG00000062725" }, { "id": "NCBI_Gene:10513" }, { "id": "PANTHER:PTHR46575" }, { "id": "UniProtKB:Q92624" }, { "pages": [ "gene/references" ], "id": "RGD:1315134" }, { "pages": [ "gene" ], "id": "HGNC:622" }, { "id": "RGD:1315134" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APPBP2-DT", "soTermId": "SO:0001263", "name": "APPBP2 divergent transcript", "basicGeneticEntity": { "secondaryIds": [ "RGD:40924679" ], "genomeLocations": [ { "strand": "+", "endPosition": 60557319, "chromosome": "17", "assembly": "GRCh38", "startPosition": 60525460 } ], "primaryId": "HGNC:55423", "crossReferences": [ { "id": "ENSEMBL:ENSG00000259349" }, { "id": "NCBI_Gene:120017341" }, { "pages": [ "gene/references" ], "id": "RGD:40924679" }, { "pages": [ "gene" ], "id": "HGNC:55423" }, { "id": "RGD:40924679" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APPL1", "geneSynopsis": "The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1", "basicGeneticEntity": { "synonyms": [ "AKT2 interactor", "APPL", "DCC-interacting protein 13-alpha", "DIP13alpha", "MODY14", "adapter protein containing PH domain, PTB domain and leucine zipper motif 1", "adaptor protein containing pH domain, PTB domain and leucine zipper motif 1", "adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1", "dip13-alpha", "signaling adaptor protein DIP13alpha" ], "secondaryIds": [ "RGD:1607055" ], "genomeLocations": [ { "strand": "+", "endPosition": 57278127, "chromosome": "3", "assembly": "GRCh38", "startPosition": 57227726 } ], "primaryId": "HGNC:24035", "crossReferences": [ { "id": "ENSEMBL:ENSG00000157500" }, { "id": "NCBI_Gene:26060" }, { "id": "PANTHER:PTHR46415" }, { "id": "UniProtKB:Q9UKG1" }, { "pages": [ "gene/references" ], "id": "RGD:1607055" }, { "pages": [ "gene" ], "id": "HGNC:24035" }, { "id": "RGD:1607055" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APPL2", "geneSynopsis": "The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]", "soTermId": "SO:0001217", "name": "adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2", "basicGeneticEntity": { "synonyms": [ "DCC-interacting protein 13-beta", "DIP13 beta", "DIP13B", "FLJ10659", "adapter protein containing PH domain, PTB domain and leucine zipper motif 2", "adaptor protein containing PH domain, PTB domain and leucine zipper motif 2", "adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2", "dip13-beta" ], "secondaryIds": [ "RGD:1605653" ], "genomeLocations": [ { "strand": "-", "endPosition": 105236221, "chromosome": "12", "assembly": "GRCh38", "startPosition": 105172485 } ], "primaryId": "HGNC:18242", "crossReferences": [ { "id": "ENSEMBL:ENSG00000136044" }, { "id": "NCBI_Gene:55198" }, { "id": "PANTHER:PTHR46415" }, { "id": "UniProtKB:Q8NEU8" }, { "pages": [ "gene/references" ], "id": "RGD:1605653" }, { "pages": [ "gene" ], "id": "HGNC:18242" }, { "id": "RGD:1605653" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APRG1", "geneSynopsis": "Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001263", "name": "APRG1 tumor suppressor candidate", "basicGeneticEntity": { "synonyms": [ "AP20 region protein 1", "AP20 region protein1", "C3orf35", "chromosome 3 open reading frame 35" ], "secondaryIds": [ "RGD:1605538" ], "genomeLocations": [ { "strand": "+", "endPosition": 37440186, "chromosome": "3", "assembly": "GRCh38", "startPosition": 37381062 } ], "primaryId": "HGNC:24082", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198590" }, { "id": "NCBI_Gene:339883" }, { "id": "UniProtKB:Q8IVJ8" }, { "pages": [ "gene/references" ], "id": "RGD:1605538" }, { "pages": [ "gene" ], "id": "HGNC:24082" }, { "id": "RGD:1605538" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APRT", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "adenine phosphoribosyltransferase", "basicGeneticEntity": { "synonyms": [ "AMP", "AMP diphosphorylase", "AMP pyrophosphorylase", "APRTD", "DKFZp686D13177", "MGC125856", "MGC125857", "MGC129961", "transphosphoribosidase" ], "secondaryIds": [ "RGD:1317133" ], "genomeLocations": [ { "strand": "-", "endPosition": 88811963, "chromosome": "16", "assembly": "GRCh38", "startPosition": 88809339 } ], "primaryId": "HGNC:626", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198931" }, { "id": "NCBI_Gene:353" }, { "id": "PANTHER:PTHR32315" }, { "id": "UniProtKB:P07741" }, { "pages": [ "gene/references" ], "id": "RGD:1317133" }, { "pages": [ "gene" ], "id": "HGNC:626" }, { "id": "RGD:1317133" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APTR", "geneSynopsis": "INTERACTS WITH acrylamide; aristolochic acid A; benzo[a]pyrene", "soTermId": "SO:0001263", "name": "Alu-mediated CDKN1A/p21 transcriptional regulator", "basicGeneticEntity": { "synonyms": [ "AC090421.1", "Alu-mediated CDKN1A/p21 transcriptional regulator (non-protein coding)", "RSBN1L-AS1" ], "secondaryIds": [ "RGD:6767468" ], "genomeLocations": [ { "strand": "-", "endPosition": 77697345, "chromosome": "7", "assembly": "GRCh38", "startPosition": 77657659 } ], "primaryId": "HGNC:44173", "crossReferences": [ { "id": "ENSEMBL:ENSG00000214293" }, { "id": "NCBI_Gene:100505854" }, { "pages": [ "gene/references" ], "id": "RGD:6767468" }, { "pages": [ "gene" ], "id": "HGNC:44173" }, { "id": "RGD:6767468" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "APTX", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "aprataxin", "basicGeneticEntity": { "synonyms": [ "AOA", "AOA1", "AXA1", "EAOH", "EOAHA", "FHA-HIT", "FLJ20157", "MGC1072", "forkhead-associated domain histidine triad-like protein" ], "secondaryIds": [ "RGD:1606553" ], "genomeLocations": [ { "strand": "-", "endPosition": 33025130, "chromosome": "9", "assembly": "GRCh38", "startPosition": 32886601 } ], "primaryId": "HGNC:15984", "crossReferences": [ { "id": "ENSEMBL:ENSG00000137074" }, { "id": "NCBI_Gene:54840" }, { "id": "PANTHER:PTHR12486" }, { "id": "UniProtKB:Q7Z2E3" }, { "pages": [ "gene/references" ], "id": "RGD:1606553" }, { "pages": [ "gene" ], "id": "HGNC:15984" }, { "id": "RGD:1606553" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AQP1", "geneSynopsis": "This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradient. This gene is a possible candidate for disorders involving imbalance in ocular fluid movement. [provided by RefSeq, Aug 2016]", "soTermId": "SO:0001217", "name": "aquaporin 1 (Colton blood group)", "basicGeneticEntity": { "synonyms": [ "AQP-1", "AQP-CHIP", "CHIP28", "CO", "Colton blood group", "Colton blood group antigen", "MGC26324", "aquaporin 1", "aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)", "aquaporin 1, Colton blood group antigen", "aquaporin 1aquaporin 1 (Colton blood group)", "aquaporin-1", "aquaporin-CHIP", "channel-like integral membrane protein of 28 kDa", "channel-like integral membrane protein, 28-kDa", "urine water channel", "water channel protein for red blood cells and kidney proximal tubule" ], "secondaryIds": [ "RGD:70369" ], "genomeLocations": [ { "strand": "+", "endPosition": 30925517, "chromosome": "7", "assembly": "GRCh38", "startPosition": 30911720 } ], "primaryId": "HGNC:633", "crossReferences": [ { "id": "ENSEMBL:ENSG00000240583" }, { "id": "NCBI_Gene:358" }, { "id": "PANTHER:PTHR19139" }, { "id": "UniProtKB:P29972" }, { "pages": [ "gene/references" ], "id": "RGD:70369" }, { "pages": [ "gene" ], "id": "HGNC:633" }, { "id": "RGD:70369" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AQP10", "geneSynopsis": "This gene encodes a member of the aquaglyceroporin family of integral membrane proteins. Members of this family function as water-permeable channels in the epithelia of organs that absorb and excrete water. This protein was shown to function as a water-selective channel, and could also permeate neutral solutes such as glycerol and urea. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "aquaporin 10", "basicGeneticEntity": { "synonyms": [ "AQP-10", "AQPA_HUMAN", "aquaglyceroporin-10", "aquaporin-10", "small intestine aquaporin" ], "secondaryIds": [ "RGD:1344809" ], "genomeLocations": [ { "strand": "+", "endPosition": 154325325, "chromosome": "1", "assembly": "GRCh38", "startPosition": 154321090 } ], "primaryId": "HGNC:16029", "crossReferences": [ { "id": "ENSEMBL:ENSG00000143595" }, { "id": "NCBI_Gene:89872" }, { "id": "PANTHER:PTHR43829" }, { "id": "UniProtKB:Q96PS8" }, { "pages": [ "gene/references" ], "id": "RGD:1344809" }, { "pages": [ "gene" ], "id": "HGNC:16029" }, { "id": "RGD:1344809" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AQP11", "geneSynopsis": "Enables glycerol channel activity; hydrogen peroxide channel activity; and water channel activity. Involved in several processes, including glycerol transmembrane transport; hydrogen peroxide transmembrane transport; and intracellular water homeostasis. Located in cell surface; endoplasmic reticulum; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "aquaporin 11", "basicGeneticEntity": { "synonyms": [ "AQP-11", "AQPX1", "aquaporin-11" ], "secondaryIds": [ "RGD:736750" ], "genomeLocations": [ { "strand": "+", "endPosition": 77611064, "chromosome": "11", "assembly": "GRCh38", "startPosition": 77589391 } ], "primaryId": "HGNC:19940", "crossReferences": [ { "id": "ENSEMBL:ENSG00000178301" }, { "id": "NCBI_Gene:282679" }, { "id": "PANTHER:PTHR21191" }, { "id": "UniProtKB:Q8NBQ7" }, { "pages": [ "gene/references" ], "id": "RGD:736750" }, { "pages": [ "gene" ], "id": "HGNC:19940" }, { "id": "RGD:736750" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AQP12A", "geneSynopsis": "Predicted to enable channel activity. Predicted to be involved in transmembrane transport and water transport. Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "aquaporin 12A", "basicGeneticEntity": { "synonyms": [ "AQP-12", "AQP12", "AQPX2", "aquaporin 12", "aquaporin X2", "aquaporin-12A", "putative aquaporin-12A" ], "secondaryIds": [ "RGD:1346803" ], "genomeLocations": [ { "strand": "+", "endPosition": 240698483, "chromosome": "2", "assembly": "GRCh38", "startPosition": 240691866 } ], "primaryId": "HGNC:19941", "crossReferences": [ { "id": "ENSEMBL:ENSG00000184945" }, { "id": "NCBI_Gene:375318" }, { "id": "PANTHER:PTHR21191" }, { "id": "UniProtKB:Q8IXF9" }, { "pages": [ "gene/references" ], "id": "RGD:1346803" }, { "pages": [ "gene" ], "id": "HGNC:19941" }, { "id": "RGD:1346803" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AQP12B", "geneSynopsis": "Predicted to enable channel activity. Predicted to be involved in transmembrane transport and water transport. Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "aquaporin 12B", "basicGeneticEntity": { "synonyms": [ "AQP-12B", "INSSA3", "MGC149473", "aquaporin-12B", "insulin synthesis associated 3", "putative aquaporin-12B" ], "secondaryIds": [ "RGD:1352752" ], "genomeLocations": [ { "strand": "-", "endPosition": 240683810, "chromosome": "2", "assembly": "GRCh38", "startPosition": 240676418 } ], "primaryId": "HGNC:6096", "crossReferences": [ { "id": "ENSEMBL:ENSG00000185176" }, { "id": "NCBI_Gene:653437" }, { "id": "PANTHER:PTHR21191" }, { "id": "UniProtKB:A6NM10" }, { "pages": [ "gene/references" ], "id": "RGD:1352752" }, { "pages": [ "gene" ], "id": "HGNC:6096" }, { "id": "RGD:1352752" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AQP2", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "aquaporin 2", "basicGeneticEntity": { "synonyms": [ "ADH water channel", "AQP-2", "AQP-CD", "MGC34501", "NDI2", "WCH-CD", "aquaporin 2 (collecting duct)", "aquaporin-2", "aquaporin-CD", "collecting duct water channel protein", "water channel protein for renal collecting duct", "water-channel aquaporin 2" ], "secondaryIds": [ "RGD:70370" ], "genomeLocations": [ { "strand": "+", "endPosition": 49958878, "chromosome": "12", "assembly": "GRCh38", "startPosition": 49950737 } ], "primaryId": "HGNC:634", "crossReferences": [ { "id": "ENSEMBL:ENSG00000167580" }, { "id": "NCBI_Gene:359" }, { "id": "PANTHER:PTHR19139" }, { "id": "UniProtKB:P41181" }, { "pages": [ "gene/references" ], "id": "RGD:70370" }, { "pages": [ "gene" ], "id": "HGNC:634" }, { "id": "RGD:70370" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AQP3", "geneSynopsis": "This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]", "soTermId": "SO:0001217", "name": "aquaporin 3 (Gill blood group)", "basicGeneticEntity": { "synonyms": [ "AQP-3", "GIL", "Gill blood group", "aquaglyceroporin-3", "aquaporin 3", "aquaporin 3 (GIL blood group)", "aquaporin-3" ], "secondaryIds": [ "RGD:68638" ], "genomeLocations": [ { "strand": "-", "endPosition": 33447596, "chromosome": "9", "assembly": "GRCh38", "startPosition": 33441156 } ], "primaryId": "HGNC:636", "crossReferences": [ { "id": "ENSEMBL:ENSG00000165272" }, { "id": "NCBI_Gene:360" }, { "id": "PANTHER:PTHR43829" }, { "id": "UniProtKB:Q92482" }, { "pages": [ "gene/references" ], "id": "RGD:68638" }, { "pages": [ "gene" ], "id": "HGNC:636" }, { "id": "RGD:68638" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AQP4", "geneSynopsis": "This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. This protein is the predominant aquaporin found in brain and has an important role in brain water homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. Additional isoforms, resulting from the use of alternative in-frame translation initiation codons, have also been described. Recent studies provided evidence for translational readthrough in this gene, and expression of C-terminally extended isoforms via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]", "soTermId": "SO:0001217", "name": "aquaporin 4", "basicGeneticEntity": { "synonyms": [ "AQP-4", "HMIWC2", "MGC22454", "MIWC", "MLC4", "WCH4", "aquaporin 4 isoform delta4", "aquaporin type4", "aquaporin-4", "hAQP4", "mercurial-insensitive water channel" ], "secondaryIds": [ "RGD:735519" ], "genomeLocations": [ { "strand": "-", "endPosition": 26865803, "chromosome": "18", "assembly": "GRCh38", "startPosition": 26852038 } ], "primaryId": "HGNC:637", "crossReferences": [ { "id": "ENSEMBL:ENSG00000171885" }, { "id": "NCBI_Gene:361" }, { "id": "PANTHER:PTHR19139" }, { "id": "UniProtKB:P55087" }, { "pages": [ "gene/references" ], "id": "RGD:735519" }, { "pages": [ "gene" ], "id": "HGNC:637" }, { "id": "RGD:735519" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AQP4-AS1", "geneSynopsis": "INVOLVED IN RNA processing (inferred); SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (inferred); FOUND IN nucleolus (inferred); signal recognition particle, endoplasmic reticulum targeting (inferred); INTERACTS WITH benzo[a]pyrene; dorsomorphin; O-methyleugenol", "soTermId": "SO:0001263", "name": "AQP4 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "C18orf16", "CHST9-AS1", "FLJ30507", "MGC138275" ], "secondaryIds": [ "RGD:1347753" ], "genomeLocations": [ { "strand": "+", "endPosition": 27190698, "chromosome": "18", "assembly": "GRCh38", "startPosition": 26655505 } ], "primaryId": "HGNC:26399", "crossReferences": [ { "id": "ENSEMBL:ENSG00000260372" }, { "id": "NCBI_Gene:147429" }, { "pages": [ "gene/references" ], "id": "RGD:1347753" }, { "pages": [ "gene" ], "id": "HGNC:26399" }, { "id": "RGD:1347753" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AQP5", "geneSynopsis": "Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "aquaporin 5", "basicGeneticEntity": { "synonyms": [ "AQP-5", "PPKB", "aquaporin-5" ], "secondaryIds": [ "RGD:70371" ], "genomeLocations": [ { "strand": "+", "endPosition": 49965682, "chromosome": "12", "assembly": "GRCh38", "startPosition": 49961811 } ], "primaryId": "HGNC:638", "crossReferences": [ { "id": "ENSEMBL:ENSG00000161798" }, { "id": "NCBI_Gene:362" }, { "id": "PANTHER:PTHR19139" }, { "id": "UniProtKB:P55064" }, { "pages": [ "gene/references" ], "id": "RGD:70371" }, { "pages": [ "gene" ], "id": "HGNC:638" }, { "id": "RGD:70371" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AQP5-AS1", "geneSynopsis": "Involved in actin filament organization and regulation of epidermal growth factor receptor signaling pathway. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001263", "name": "AQP5 and AQP2 antisense RNA 2", "basicGeneticEntity": { "synonyms": [ "AC025154.2", "LOC101927318", "MIAC", "novel transcript, antisense to AQP5", "uncharacterized LOC101927318" ], "secondaryIds": [ "RGD:16561369" ], "genomeLocations": [ { "strand": "-", "endPosition": 49975539, "chromosome": "12", "assembly": "GRCh38", "startPosition": 49951512 } ], "primaryId": "HGNC:55474", "crossReferences": [ { "id": "ENSEMBL:ENSG00000257588" }, { "id": "NCBI_Gene:101927318" }, { "id": "UniProtKB:A0A7L8Y648" }, { "pages": [ "gene/references" ], "id": "RGD:16561369" }, { "pages": [ "gene" ], "id": "HGNC:55474" }, { "id": "RGD:16561369" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AQP6", "geneSynopsis": "The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "aquaporin 6", "basicGeneticEntity": { "synonyms": [ "AQP-6", "AQP2L", "KID", "aquaporin 2-like, kidney specific", "aquaporin 6, kidney specific", "aquaporin-2-like", "aquaporin-6", "aquaporin-6, kidney specific", "hKID", "kidney-specific aquaporin" ], "secondaryIds": [ "RGD:737143" ], "genomeLocations": [ { "strand": "+", "endPosition": 49977139, "chromosome": "12", "assembly": "GRCh38", "startPosition": 49967194 } ], "primaryId": "HGNC:639", "crossReferences": [ { "id": "ENSEMBL:ENSG00000086159" }, { "id": "NCBI_Gene:363" }, { "id": "PANTHER:PTHR19139" }, { "id": "UniProtKB:Q13520" }, { "pages": [ "gene/references" ], "id": "RGD:737143" }, { "pages": [ "gene" ], "id": "HGNC:639" }, { "id": "RGD:737143" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AQP7", "geneSynopsis": "This gene encodes a member of the aquaporin family of water-selective membrane channels. The encoded protein localizes to the plasma membrane and allows movement of water, glycerol and urea across cell membranes. This gene is highly expressed in the adipose tissue where the encoded protein facilitates efflux of glycerol. In the proximal straight tubules of kidney, the encoded protein is localized to the apical membrane and prevents excretion of glycerol into urine. The encoded protein is present in spermatids, as well as in the testicular and epididymal spermatozoa suggesting an important role in late spermatogenesis. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene is located adjacent to a related aquaporin gene on chromosome 9. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Dec 2015]", "soTermId": "SO:0001217", "name": "aquaporin 7", "basicGeneticEntity": { "synonyms": [ "AQP-7", "AQP7L", "AQP9", "AQPap", "GLYCQTL", "MGC149555", "MGC149556", "aquaglyceroporin-7", "aquaporin adipose", "aquaporin-7", "aquaporin-7-like" ], "secondaryIds": [ "RGD:736375" ], "genomeLocations": [ { "strand": "-", "endPosition": 33402682, "chromosome": "9", "assembly": "GRCh38", "startPosition": 33383179 } ], "primaryId": "HGNC:640", "crossReferences": [ { "id": "ENSEMBL:ENSG00000165269" }, { "id": "NCBI_Gene:364" }, { "id": "PANTHER:PTHR43829" }, { "id": "UniProtKB:O14520" }, { "pages": [ "gene/references" ], "id": "RGD:736375" }, { "pages": [ "gene" ], "id": "HGNC:640" }, { "id": "RGD:736375" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AQP7B", "geneSynopsis": "Predicted to enable glycerol channel activity and water channel activity. Predicted to be involved in glycerol transmembrane transport and water transport. Predicted to be located in membrane. Predicted to be active in basolateral plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "aquaporin 7B", "basicGeneticEntity": { "synonyms": [ "AL845331.1", "AL845331.2", "LOC100509620", "aquaporin-7B", "putative aquaporin-7-like protein 3", "putative aquaporin-7B" ], "secondaryIds": [ "RGD:16562476" ], "genomeLocations": [ { "strand": "+", "endPosition": 94612744, "chromosome": "2", "assembly": "GRCh38", "startPosition": 94587101 } ], "primaryId": "HGNC:53895", "crossReferences": [ { "id": "ENSEMBL:ENSG00000259916" }, { "id": "NCBI_Gene:100509620" }, { "id": "PANTHER:PTHR43829" }, { "id": "UniProtKB:A0A075B734" }, { "pages": [ "gene/references" ], "id": "RGD:16562476" }, { "pages": [ "gene" ], "id": "HGNC:53895" }, { "id": "RGD:16562476" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AQP7P1", "geneSynopsis": "INTERACTS WITH benzo[a]pyrene; butanal; cadmium atom", "soTermId": "SO:0000336", "name": "aquaporin 7 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "LOC124906860", "bA251O17.3", "putative aquaporin-7-like protein 3" ], "secondaryIds": [ "RGD:1603335" ], "genomeLocations": [ { "strand": "-", "endPosition": 63334520, "chromosome": "9", "assembly": "GRCh38", "startPosition": 63315243 } ], "primaryId": "HGNC:32048", "crossReferences": [ { "id": "ENSEMBL:ENSG00000186466" }, { "id": "NCBI_Gene:375719" }, { "pages": [ "gene/references" ], "id": "RGD:1603335" }, { "pages": [ "gene" ], "id": "HGNC:32048" }, { "id": "RGD:1603335" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AQP7P2", "geneSynopsis": "INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; aflatoxin B1; benzo[a]pyrene", "soTermId": "SO:0000336", "name": "aquaporin 7 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:1601913" ], "genomeLocations": [ { "strand": "-", "endPosition": 64639027, "chromosome": "9", "assembly": "GRCh38", "startPosition": 64621504 } ], "primaryId": "HGNC:32049", "crossReferences": [ { "id": "ENSEMBL:ENSG00000181997" }, { "id": "NCBI_Gene:389756" }, { "pages": [ "gene/references" ], "id": "RGD:1601913" }, { "pages": [ "gene" ], "id": "HGNC:32049" }, { "id": "RGD:1601913" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AQP7P3", "geneSynopsis": "INTERACTS WITH cadmium dichloride; paracetamol; rotenone", "soTermId": "SO:0000336", "name": "aquaporin 7 pseudogene 3", "basicGeneticEntity": { "synonyms": [ "AQPap-3" ], "secondaryIds": [ "RGD:36947855" ], "genomeLocations": [ { "strand": "+", "endPosition": 65912560, "chromosome": "9", "assembly": "GRCh38", "startPosition": 65877574 } ], "primaryId": "HGNC:31976", "crossReferences": [ { "id": "NCBI_Gene:441432" }, { "pages": [ "gene/references" ], "id": "RGD:36947855" }, { "pages": [ "gene" ], "id": "HGNC:31976" }, { "id": "RGD:36947855" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AQP7P4", "geneSynopsis": "INTERACTS WITH aflatoxin B1; benzo[a]pyrene; O-methyleugenol", "soTermId": "SO:0000336", "name": "aquaporin 7 pseudogene 4", "basicGeneticEntity": { "secondaryIds": [ "RGD:3277469" ], "genomeLocations": [ { "strand": "+", "endPosition": 63143456, "chromosome": "9", "assembly": "GRCh38", "startPosition": 63127359 } ], "primaryId": "HGNC:32056", "crossReferences": [ { "id": "ENSEMBL:ENSG00000176115" }, { "id": "NCBI_Gene:100132938" }, { "pages": [ "gene/references" ], "id": "RGD:3277469" }, { "pages": [ "gene" ], "id": "HGNC:32056" }, { "id": "RGD:3277469" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AQP7P5", "soTermId": "SO:0000336", "name": "aquaporin 7 pseudogene 5", "basicGeneticEntity": { "synonyms": [ "FP885919.1", "aquaporin 7 (AQP7) pseudogene", "putative aquaporin-7-like protein 3" ], "secondaryIds": [ "RGD:10054316" ], "genomeLocations": [ { "strand": "-", "endPosition": 40499024, "chromosome": "9", "assembly": "GRCh38", "startPosition": 40481501 } ], "primaryId": "HGNC:51836", "crossReferences": [ { "id": "ENSEMBL:ENSG00000278122" }, { "id": "NCBI_Gene:102724655" }, { "pages": [ "gene/references" ], "id": "RGD:10054316" }, { "pages": [ "gene" ], "id": "HGNC:51836" }, { "id": "RGD:10054316" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AQP8", "geneSynopsis": "Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "aquaporin 8", "basicGeneticEntity": { "synonyms": [ "AQP-8", "aquaporin-8" ], "secondaryIds": [ "RGD:737411" ], "genomeLocations": [ { "strand": "+", "endPosition": 25228932, "chromosome": "16", "assembly": "GRCh38", "startPosition": 25215731 } ], "primaryId": "HGNC:642", "crossReferences": [ { "id": "ENSEMBL:ENSG00000103375" }, { "id": "NCBI_Gene:343" }, { "id": "PANTHER:PTHR45665" }, { "id": "UniProtKB:O94778" }, { "pages": [ "gene/references" ], "id": "RGD:737411" }, { "pages": [ "gene" ], "id": "HGNC:642" }, { "id": "RGD:737411" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AQP9", "geneSynopsis": "The aquaporins are a family of water-selective membrane channels. This gene encodes a member of a subset of aquaporins called the aquaglyceroporins. This protein allows passage of a broad range of noncharged solutes and also stimulates urea transport and osmotic water permeability. This protein may also facilitate the uptake of glycerol in hepatic tissue . The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]", "soTermId": "SO:0001217", "name": "aquaporin 9", "basicGeneticEntity": { "synonyms": [ "AQP-9", "HsT17287", "SSC1", "T17287", "aquaglyceroporin-9", "aquaporin-9", "small solute channel 1" ], "secondaryIds": [ "RGD:735505" ], "genomeLocations": [ { "strand": "+", "endPosition": 58185914, "chromosome": "15", "assembly": "GRCh38", "startPosition": 58138169 } ], "primaryId": "HGNC:643", "crossReferences": [ { "id": "ENSEMBL:ENSG00000103569" }, { "id": "NCBI_Gene:366" }, { "id": "PANTHER:PTHR43829" }, { "id": "UniProtKB:O43315" }, { "pages": [ "gene/references" ], "id": "RGD:735505" }, { "pages": [ "gene" ], "id": "HGNC:643" }, { "id": "RGD:735505" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AQR", "geneSynopsis": "Enables 3'-5' RNA helicase activity and single-stranded RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in nucleoplasm. Part of U2-type catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "aquarius intron-binding spliceosomal factor", "basicGeneticEntity": { "synonyms": [ "DKFZp686B23123", "IBP160", "KIAA0560", "RNA helicase aquarius", "aquarius homolog", "fSAP164", "functional spliceosome-associated protein 164", "intron-binding protein aquarius", "intron-binding protein of 160 kDa" ], "secondaryIds": [ "RGD:1314717" ], "genomeLocations": [ { "strand": "-", "endPosition": 34969765, "chromosome": "15", "assembly": "GRCh38", "startPosition": 34851782 } ], "primaryId": "HGNC:29513", "crossReferences": [ { "id": "ENSEMBL:ENSG00000021776" }, { "id": "NCBI_Gene:9716" }, { "id": "PANTHER:PTHR10887" }, { "id": "UniProtKB:O60306" }, { "pages": [ "gene/references" ], "id": "RGD:1314717" }, { "pages": [ "gene" ], "id": "HGNC:29513" }, { "id": "RGD:1314717" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AR", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "androgen receptor", "basicGeneticEntity": { "synonyms": [ "AIS", "AR8", "DHTR", "HUMARA", "HYSP1", "KD", "Kennedy disease", "NR3C4", "SBMA", "SMAX1", "TFM", "androgen nuclear receptor variant 2", "androgen receptor splice variant 4b", "dihydrotestosterone receptor", "nuclear receptor subfamily 3 group C member 4", "spinal and bulbar muscular atrophy", "testicular feminization" ], "secondaryIds": [ "RGD:735652" ], "genomeLocations": [ { "strand": "+", "endPosition": 67730619, "chromosome": "X", "assembly": "GRCh38", "startPosition": 67543353 } ], "primaryId": "HGNC:644", "crossReferences": [ { "id": "ENSEMBL:ENSG00000169083" }, { "id": "NCBI_Gene:367" }, { "id": "PANTHER:PTHR48092" }, { "id": "UniProtKB:P10275" }, { "pages": [ "gene/references" ], "id": "RGD:735652" }, { "pages": [ "gene" ], "id": "HGNC:644" }, { "id": "RGD:735652" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARAF", "geneSynopsis": "Enables protein serine/threonine kinase activity. Involved in negative regulation of apoptotic process; regulation of TOR signaling; and regulation of protein metabolic process. Predicted to be active in cytosol and mitochondrion. Biomarker of high grade glioma. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "A-Raf proto-oncogene, serine/threonine kinase", "basicGeneticEntity": { "synonyms": [ "A-RAF", "A-Raf proto-oncogene serine/threonine-protein kinase", "ARAF1", "Oncogene ARAF1", "PKS2", "RAFA1", "Ras-binding protein DA-Raf", "proto-oncogene A-Raf", "proto-oncogene A-Raf-1", "proto-oncogene Pks", "serine/threonine-protein kinase A-Raf", "v-raf murine sarcoma 3611 viral oncogene homolog 1" ], "secondaryIds": [ "RGD:1348364" ], "genomeLocations": [ { "strand": "+", "endPosition": 47571921, "chromosome": "X", "assembly": "GRCh38", "startPosition": 47561182 } ], "primaryId": "HGNC:646", "crossReferences": [ { "id": "ENSEMBL:ENSG00000078061" }, { "id": "NCBI_Gene:369" }, { "id": "PANTHER:PTHR44329" }, { "id": "UniProtKB:P10398" }, { "pages": [ "gene/references" ], "id": "RGD:1348364" }, { "pages": [ "gene" ], "id": "HGNC:646" }, { "id": "RGD:1348364" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARAFP1", "soTermId": "SO:0000336", "name": "ARAF pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:8663374" ], "genomeLocations": [ { "strand": "-", "endPosition": 63938512, "chromosome": "7", "assembly": "GRCh38", "startPosition": 63937707 } ], "primaryId": "HGNC:50824", "crossReferences": [ { "id": "ENSEMBL:ENSG00000231264" }, { "id": "NCBI_Gene:100421741" }, { "pages": [ "gene/references" ], "id": "RGD:8663374" }, { "pages": [ "gene" ], "id": "HGNC:50824" }, { "id": "RGD:8663374" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARAFP2", "soTermId": "SO:0000336", "name": "ARAF pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ARAF2", "ARAF2P", "ARAFPS", "PKS1" ], "secondaryIds": [ "RGD:1606341" ], "genomeLocations": [ { "strand": "-", "endPosition": 63405400, "chromosome": "7", "assembly": "GRCh38", "startPosition": 63404378 } ], "primaryId": "HGNC:647", "crossReferences": [ { "id": "ENSEMBL:ENSG00000224368" }, { "id": "NCBI_Gene:644000" }, { "pages": [ "gene/references" ], "id": "RGD:1606341" }, { "pages": [ "gene" ], "id": "HGNC:647" }, { "id": "RGD:1606341" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARAFP3", "soTermId": "SO:0000336", "name": "ARAF pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ARAF3P", "ARAFPS2" ], "secondaryIds": [ "RGD:2306588" ], "genomeLocations": [ { "strand": "+", "endPosition": 63343733, "chromosome": "7", "assembly": "GRCh38", "startPosition": 63342711 } ], "primaryId": "HGNC:35474", "crossReferences": [ { "id": "ENSEMBL:ENSG00000227298" }, { "id": "NCBI_Gene:285893" }, { "pages": [ "gene/references" ], "id": "RGD:2306588" }, { "pages": [ "gene" ], "id": "HGNC:35474" }, { "id": "RGD:2306588" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARAP1", "geneSynopsis": "The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]", "soTermId": "SO:0001217", "name": "ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1", "basicGeneticEntity": { "synonyms": [ "ARF-GAP, RHO-GAP, ankyrin repeat, and pleckstrin homology domains-containing protein 1", "CENTD2", "KIAA0782", "arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1", "centaurin, delta 2", "centaurin-delta-2", "cnt-d2" ], "secondaryIds": [ "RGD:1321262" ], "genomeLocations": [ { "strand": "-", "endPosition": 72793599, "chromosome": "11", "assembly": "GRCh38", "startPosition": 72683204 } ], "primaryId": "HGNC:16925", "crossReferences": [ { "id": "ENSEMBL:ENSG00000186635" }, { "id": "NCBI_Gene:116985" }, { "id": "PANTHER:PTHR45899" }, { "id": "UniProtKB:Q96P48" }, { "pages": [ "gene/references" ], "id": "RGD:1321262" }, { "pages": [ "gene" ], "id": "HGNC:16925" }, { "id": "RGD:1321262" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARAP1-AS1", "geneSynopsis": "INTERACTS WITH dimethylselenide; hydroxyl; ozone", "soTermId": "SO:0001263", "name": "ARAP1 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481281" ], "genomeLocations": [ { "strand": "+", "endPosition": 72693808, "chromosome": "11", "assembly": "GRCh38", "startPosition": 72685075 } ], "primaryId": "HGNC:39993", "crossReferences": [ { "id": "ENSEMBL:ENSG00000256007" }, { "id": "NCBI_Gene:100874075" }, { "pages": [ "gene/references" ], "id": "RGD:6481281" }, { "pages": [ "gene" ], "id": "HGNC:39993" }, { "id": "RGD:6481281" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARAP1-AS2", "geneSynopsis": "INTERACTS WITH 17beta-estradiol; 2-hydroxypropanoic acid; aflatoxin B1", "soTermId": "SO:0001263", "name": "ARAP1 antisense RNA 2", "basicGeneticEntity": { "synonyms": [ "FLJ43765" ], "secondaryIds": [ "RGD:5131395" ], "genomeLocations": [ { "strand": "+", "endPosition": 72705607, "chromosome": "11", "assembly": "GRCh38", "startPosition": 72700474 } ], "primaryId": "HGNC:39994", "crossReferences": [ { "id": "ENSEMBL:ENSG00000245148" }, { "id": "NCBI_Gene:100506020" }, { "pages": [ "gene/references" ], "id": "RGD:5131395" }, { "pages": [ "gene" ], "id": "HGNC:39994" }, { "id": "RGD:5131395" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARAP2", "geneSynopsis": "The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6 GAP that binds RhoA-GTP, but it lacks the predicted catalytic arginine in the RHO-GAP domain and does not have RHO-GAP activity. The protein associates with focal adhesions and functions downstream of RhoA to regulate focal adhesion dynamics. [provided by RefSeq, Sep 2008]", "soTermId": "SO:0001217", "name": "ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2", "basicGeneticEntity": { "synonyms": [ "Arf and Rho GAP adapter protein 2", "CENTD1", "FLJ13675", "FLJ44916", "KIAA0580", "PARX", "arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2", "centaurin, delta 1", "centaurin-delta-1", "cnt-d1" ], "secondaryIds": [ "RGD:1315077" ], "genomeLocations": [ { "strand": "-", "endPosition": 36244784, "chromosome": "4", "assembly": "GRCh38", "startPosition": 35948221 } ], "primaryId": "HGNC:16924", "crossReferences": [ { "id": "ENSEMBL:ENSG00000047365" }, { "id": "NCBI_Gene:116984" }, { "id": "PANTHER:PTHR45899" }, { "id": "UniProtKB:Q8WZ64" }, { "pages": [ "gene/references" ], "id": "RGD:1315077" }, { "pages": [ "gene" ], "id": "HGNC:16924" }, { "id": "RGD:1315077" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARAP2-AS1", "soTermId": "SO:0001263", "name": "ARAP2 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AC104078.1", "LOC439933", "novel transcript, antisense to CENTD1", "uncharacterized LOC439933" ], "secondaryIds": [ "RGD:16558012" ], "genomeLocations": [ { "strand": "+", "endPosition": 36274220, "chromosome": "4", "assembly": "GRCh38", "startPosition": 36244116 } ], "primaryId": "HGNC:58751", "crossReferences": [ { "id": "ENSEMBL:ENSG00000247193" }, { "id": "NCBI_Gene:439933" }, { "pages": [ "gene/references" ], "id": "RGD:16558012" }, { "pages": [ "gene" ], "id": "HGNC:58751" }, { "id": "RGD:16558012" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARAP3", "geneSynopsis": "This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2015]", "soTermId": "SO:0001217", "name": "ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3", "basicGeneticEntity": { "synonyms": [ "ARF-GAP, RHO-GAP, ankyrin repeat and plekstrin homology domains-containing protein 3", "Arf and Rho GAP adapter protein 3", "CENTD3", "DRAG1", "FLJ21065", "PtdIns(3,4,5)P3-binding protein", "arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3", "centaurin, delta 3", "centaurin-delta-3", "cnt-d3", "phosphoinositide binding protein" ], "secondaryIds": [ "RGD:1347923" ], "genomeLocations": [ { "strand": "-", "endPosition": 141682255, "chromosome": "5", "assembly": "GRCh38", "startPosition": 141653240 } ], "primaryId": "HGNC:24097", "crossReferences": [ { "id": "ENSEMBL:ENSG00000120318" }, { "id": "NCBI_Gene:64411" }, { "id": "PANTHER:PTHR45899" }, { "id": "UniProtKB:Q8WWN8" }, { "pages": [ "gene/references" ], "id": "RGD:1347923" }, { "pages": [ "gene" ], "id": "HGNC:24097" }, { "id": "RGD:1347923" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARAP3-DT", "soTermId": "SO:0001263", "name": "ARAP3 divergent transcript", "basicGeneticEntity": { "secondaryIds": [ "RGD:640476593" ], "primaryId": "HGNC:59174", "crossReferences": [ { "id": "NCBI_Gene:145432492" }, { "pages": [ "gene/references" ], "id": "RGD:640476593" }, { "pages": [ "gene" ], "id": "HGNC:59174" }, { "id": "RGD:640476593" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARB2A", "geneSynopsis": "Predicted to contribute to siRNA binding activity. Predicted to be involved in neural crest cell development; regulation of alternative mRNA splicing, via spliceosome; and regulatory ncRNA-mediated heterochromatin formation. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ARB2 cotranscriptional regulator A", "basicGeneticEntity": { "synonyms": [ "C5orf21", "DKFZp564D172", "FAM172A", "Toupee", "cotranscriptional regulator ARB2A", "cotranscriptional regulator FAM172A", "family with sequence similarity 172 member A", "family with sequence similarity 172, member A", "hypothetical protein LOC83989" ], "secondaryIds": [ "RGD:1605018" ], "genomeLocations": [ { "strand": "-", "endPosition": 94111699, "chromosome": "5", "assembly": "GRCh38", "startPosition": 93615442 } ], "primaryId": "HGNC:25365", "crossReferences": [ { "id": "ENSEMBL:ENSG00000113391" }, { "id": "NCBI_Gene:83989" }, { "id": "PANTHER:PTHR21357" }, { "id": "UniProtKB:Q8WUF8" }, { "pages": [ "gene/references" ], "id": "RGD:1605018" }, { "pages": [ "gene" ], "id": "HGNC:25365" }, { "id": "RGD:1605018" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARB2A-AS1", "soTermId": "SO:0001263", "name": "ARB2A antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LOC124901028", "uncharacterized LOC124901028" ], "secondaryIds": [ "RGD:151674700" ], "genomeLocations": [ { "strand": "+", "endPosition": 93674843, "chromosome": "5", "assembly": "GRCh38", "startPosition": 93621682 } ], "primaryId": "HGNC:59095", "crossReferences": [ { "id": "NCBI_Gene:124901028" }, { "pages": [ "gene/references" ], "id": "RGD:151674700" }, { "pages": [ "gene" ], "id": "HGNC:59095" }, { "id": "RGD:151674700" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARB2A-AS2", "soTermId": "SO:0001263", "name": "ARB2A antisense RNA 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:631142218" ], "primaryId": "HGNC:59096", "crossReferences": [ { "id": "NCBI_Gene:144717128" }, { "pages": [ "gene/references" ], "id": "RGD:631142218" }, { "pages": [ "gene" ], "id": "HGNC:59096" }, { "id": "RGD:631142218" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARB2A-DT", "soTermId": "SO:0001263", "name": "ARB2A divergent transcript", "basicGeneticEntity": { "synonyms": [ "LOC105379087", "uncharacterized LOC105379087" ], "secondaryIds": [ "RGD:38601840" ], "genomeLocations": [ { "strand": "+", "endPosition": 94251859, "chromosome": "5", "assembly": "GRCh38", "startPosition": 94111592 } ], "primaryId": "HGNC:59097", "crossReferences": [ { "id": "ENSEMBL:ENSG00000286577" }, { "id": "NCBI_Gene:105379087" }, { "pages": [ "gene/references" ], "id": "RGD:38601840" }, { "pages": [ "gene" ], "id": "HGNC:59097" }, { "id": "RGD:38601840" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARB2BP", "geneSynopsis": "Predicted to contribute to siRNA binding activity. Predicted to be involved in regulatory ncRNA-mediated heterochromatin formation. Predicted to be located in membrane. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0000336", "name": "ARB2 family member B, pseudogene", "basicGeneticEntity": { "synonyms": [ "FAM172B", "FAM172BP", "FLJ45679", "family with sequence similarity 172 member B, pseudogene" ], "secondaryIds": [ "RGD:2298809" ], "genomeLocations": [ { "strand": "+", "endPosition": 101523887, "chromosome": "3", "assembly": "GRCh38", "startPosition": 101518867 } ], "primaryId": "HGNC:34336", "crossReferences": [ { "id": "ENSEMBL:ENSG00000175841" }, { "id": "NCBI_Gene:131909" }, { "id": "PANTHER:PTHR21357" }, { "id": "UniProtKB:A6NC97" }, { "pages": [ "gene/references" ], "id": "RGD:2298809" }, { "pages": [ "gene" ], "id": "HGNC:34336" }, { "id": "RGD:2298809" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARC", "geneSynopsis": "Enables mRNA binding activity and structural molecule activity. Involved in cell migration; cytoskeleton organization; and regulation of cell morphogenesis. Located in cytoplasm and plasma membrane. Part of virus-like capsid. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "activity regulated cytoskeleton associated protein", "basicGeneticEntity": { "synonyms": [ "ARC/ARG3.1", "Arg3.1", "KIAA0278", "activity-regulated gene 3.1 protein homolog", "hArc" ], "secondaryIds": [ "RGD:730952" ], "genomeLocations": [ { "strand": "-", "endPosition": 142614479, "chromosome": "8", "assembly": "GRCh38", "startPosition": 142611049 } ], "primaryId": "HGNC:648", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198576" }, { "id": "NCBI_Gene:23237" }, { "id": "PANTHER:PTHR15962" }, { "id": "UniProtKB:Q7LC44" }, { "pages": [ "gene/references" ], "id": "RGD:730952" }, { "pages": [ "gene" ], "id": "HGNC:648" }, { "id": "RGD:730952" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARCN1", "geneSynopsis": "This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "archain 1 coat protein complex I subunit delta", "basicGeneticEntity": { "synonyms": [ "COPD", "COPI coat complex subunit delta", "SRMMD", "SSMG", "archain 1", "archain vesicle transport protein 1", "coatomer delta subunit", "coatomer protein complex, subunit delta", "coatomer protein delta-COP", "coatomer subunit delta", "delta-COP", "delta-coat protein" ], "secondaryIds": [ "RGD:1344658" ], "genomeLocations": [ { "strand": "+", "endPosition": 118603033, "chromosome": "11", "assembly": "GRCh38", "startPosition": 118572390 } ], "primaryId": "HGNC:649", "crossReferences": [ { "id": "ENSEMBL:ENSG00000095139" }, { "id": "NCBI_Gene:372" }, { "id": "PANTHER:PTHR10121" }, { "id": "UniProtKB:P48444" }, { "pages": [ "gene/references" ], "id": "RGD:1344658" }, { "pages": [ "gene" ], "id": "HGNC:649" }, { "id": "RGD:1344658" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AREG", "geneSynopsis": "The protein encoded by this gene is a member of the epidermal growth factor family. It is an autocrine growth factor as well as a mitogen for astrocytes, Schwann cells and fibroblasts. It is related to epidermal growth factor (EGF) and transforming growth factor alpha (TGF-alpha). The protein interacts with the EGF/TGF-alpha receptor to promote the growth of normal epithelial cells, and it inhibits the growth of certain aggressive carcinoma cell lines. It also functions in mammary gland, oocyte and bone tissue development. This gene is associated with a psoriasis-like skin phenotype, and is also associated with other pathological disorders, including various types of cancers and inflammatory conditions. [provided by RefSeq, Apr 2014]", "soTermId": "SO:0001217", "name": "amphiregulin", "basicGeneticEntity": { "synonyms": [ "AR", "AREGB", "CRDGF", "MGC13647", "SDGF", "amphiregulin B", "colorectum cell-derived growth factor", "schwannoma-derived growth factor" ], "secondaryIds": [ "RGD:1345760" ], "genomeLocations": [ { "strand": "+", "endPosition": 74455005, "chromosome": "4", "assembly": "GRCh38", "startPosition": 74444999 } ], "primaryId": "HGNC:651", "crossReferences": [ { "id": "ENSEMBL:ENSG00000109321" }, { "id": "NCBI_Gene:374" }, { "id": "PANTHER:PTHR10740" }, { "id": "UniProtKB:P15514" }, { "pages": [ "gene/references" ], "id": "RGD:1345760" }, { "pages": [ "gene" ], "id": "HGNC:651" }, { "id": "RGD:1345760" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AREL1", "geneSynopsis": "Enables ubiquitin protein ligase activity. Involved in negative regulation of apoptotic process; protein polyubiquitination; and ubiquitin-dependent protein catabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "apoptosis resistant E3 ubiquitin protein ligase 1", "basicGeneticEntity": { "synonyms": [ "FIEL1", "KIAA0317", "apoptosis-resistant E3 ubiquitin protein ligase 1", "apoptosis-resistant HECT-type E3 ubiquitin transferase 1", "fibrosis-inducing E3 ligase 1", "hypothetical protein LOC9870" ], "secondaryIds": [ "RGD:1316884" ], "genomeLocations": [ { "strand": "-", "endPosition": 74713117, "chromosome": "14", "assembly": "GRCh38", "startPosition": 74653437 } ], "primaryId": "HGNC:20363", "crossReferences": [ { "id": "ENSEMBL:ENSG00000119682" }, { "id": "NCBI_Gene:9870" }, { "id": "PANTHER:PTHR11254" }, { "id": "UniProtKB:O15033" }, { "pages": [ "gene/references" ], "id": "RGD:1316884" }, { "pages": [ "gene" ], "id": "HGNC:20363" }, { "id": "RGD:1316884" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARF1", "geneSynopsis": "ADP-ribosylation factor 1 (ARF1) is a member of the human ARF gene family. The family members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking as activators of phospholipase D. The gene products, including 6 ARF proteins and 11 ARF-like proteins, constitute a family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2 and ARF3), class II (ARF4 and ARF5) and class III (ARF6), and members of each class share a common gene organization. The ARF1 protein is localized to the Golgi apparatus and has a central role in intra-Golgi transport. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ARF GTPase 1", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor 1", "ADP-ribosylation factor 1", "PVNH8" ], "secondaryIds": [ "RGD:1353880" ], "genomeLocations": [ { "strand": "+", "endPosition": 228099212, "chromosome": "1", "assembly": "GRCh38", "startPosition": 228081841 } ], "primaryId": "HGNC:652", "crossReferences": [ { "id": "ENSEMBL:ENSG00000143761" }, { "id": "NCBI_Gene:375" }, { "id": "PANTHER:PTHR11711" }, { "id": "UniProtKB:P84077" }, { "pages": [ "gene/references" ], "id": "RGD:1353880" }, { "pages": [ "gene" ], "id": "HGNC:652" }, { "id": "RGD:1353880" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARF1P1", "geneSynopsis": "INTERACTS WITH isotretinoin", "soTermId": "SO:0000336", "name": "ARF GTPase 1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor 1 pseudogene 1", "ARF1" ], "secondaryIds": [ "RGD:1606063" ], "genomeLocations": [ { "strand": "+", "endPosition": 94836304, "chromosome": "7", "assembly": "GRCh38", "startPosition": 94833827 } ], "primaryId": "HGNC:22500", "crossReferences": [ { "id": "ENSEMBL:ENSG00000219807" }, { "id": "NCBI_Gene:442334" }, { "pages": [ "gene/references" ], "id": "RGD:1606063" }, { "pages": [ "gene" ], "id": "HGNC:22500" }, { "id": "RGD:1606063" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARF1P2", "soTermId": "SO:0000336", "name": "ARF GTPase 1 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor 1 pseudogene 2" ], "secondaryIds": [ "RGD:5130823" ], "genomeLocations": [ { "strand": "-", "endPosition": 120845750, "chromosome": "12", "assembly": "GRCh38", "startPosition": 120844913 } ], "primaryId": "HGNC:39883", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213137" }, { "id": "NCBI_Gene:100420012" }, { "pages": [ "gene/references" ], "id": "RGD:5130823" }, { "pages": [ "gene" ], "id": "HGNC:39883" }, { "id": "RGD:5130823" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARF1P3", "soTermId": "SO:0000336", "name": "ARF GTPase 1 pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor 1 pseudogene 3" ], "secondaryIds": [ "RGD:5130838" ], "genomeLocations": [ { "strand": "+", "endPosition": 124152635, "chromosome": "8", "assembly": "GRCh38", "startPosition": 124151846 } ], "primaryId": "HGNC:39884", "crossReferences": [ { "id": "ENSEMBL:ENSG00000253885" }, { "id": "NCBI_Gene:442396" }, { "pages": [ "gene/references" ], "id": "RGD:5130838" }, { "pages": [ "gene" ], "id": "HGNC:39884" }, { "id": "RGD:5130838" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARF2P", "soTermId": "SO:0000336", "name": "ARF GTPase 2, pseudogene", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor 2, pseudogene" ], "secondaryIds": [ "RGD:12743432" ], "genomeLocations": [ { "strand": "+", "endPosition": 45639402, "chromosome": "17", "assembly": "GRCh38", "startPosition": 45632945 } ], "primaryId": "HGNC:44341", "crossReferences": [ { "id": "NCBI_Gene:108489980" }, { "pages": [ "gene/references" ], "id": "RGD:12743432" }, { "pages": [ "gene" ], "id": "HGNC:44341" }, { "id": "RGD:12743432" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARF3", "geneSynopsis": "ADP-ribosylation factor 3 (ARF3) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6) and members of each class share a common gene organization. [provided by RefSeq, Oct 2022]", "soTermId": "SO:0001217", "name": "ARF GTPase 3", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor 3", "ADP-ribosylation factor 3", "small GTP binding protein" ], "secondaryIds": [ "RGD:1354397" ], "genomeLocations": [ { "strand": "-", "endPosition": 48957514, "chromosome": "12", "assembly": "GRCh38", "startPosition": 48935723 } ], "primaryId": "HGNC:654", "crossReferences": [ { "id": "ENSEMBL:ENSG00000134287" }, { "id": "NCBI_Gene:377" }, { "id": "PANTHER:PTHR11711" }, { "id": "UniProtKB:P61204" }, { "pages": [ "gene/references" ], "id": "RGD:1354397" }, { "pages": [ "gene" ], "id": "HGNC:654" }, { "id": "RGD:1354397" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARF4", "geneSynopsis": "This gene is a member of the human ARF gene family whose members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 5 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I, class II and class III; this gene is a class II member. The members of each class share a common gene organization. The ARF4 gene spans approximately 12kb and contains six exons and five introns. This gene is the most divergent member of the human ARFs. Conflicting map positions at 3p14 or 3p21 have been reported for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ARF GTPase 4", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor 4", "ADP-ribosylation factor 2", "ADP-ribosylation factor 4", "ARF2" ], "secondaryIds": [ "RGD:1352328" ], "genomeLocations": [ { "strand": "-", "endPosition": 57598220, "chromosome": "3", "assembly": "GRCh38", "startPosition": 57571363 } ], "primaryId": "HGNC:655", "crossReferences": [ { "id": "ENSEMBL:ENSG00000168374" }, { "id": "NCBI_Gene:378" }, { "id": "PANTHER:PTHR11711" }, { "id": "UniProtKB:P18085" }, { "pages": [ "gene/references" ], "id": "RGD:1352328" }, { "pages": [ "gene" ], "id": "HGNC:655" }, { "id": "RGD:1352328" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARF4-AS1", "geneSynopsis": "INTERACTS WITH aristolochic acid A; cadmium dichloride", "soTermId": "SO:0001263", "name": "ARF4 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:10059226" ], "genomeLocations": [ { "strand": "+", "endPosition": 57656480, "chromosome": "3", "assembly": "GRCh38", "startPosition": 57556274 } ], "primaryId": "HGNC:51593", "crossReferences": [ { "id": "ENSEMBL:ENSG00000174840" }, { "id": "ENSEMBL:ENSG00000272146" }, { "id": "NCBI_Gene:106144532" }, { "pages": [ "gene/references" ], "id": "RGD:10059226" }, { "pages": [ "gene" ], "id": "HGNC:51593" }, { "id": "RGD:10059226" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARF4P1", "soTermId": "SO:0000336", "name": "ARF GTPase 4 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor 4 pseudogene 1", "ARF4P" ], "secondaryIds": [ "RGD:1348063" ], "genomeLocations": [ { "strand": "+", "endPosition": 134079747, "chromosome": "9", "assembly": "GRCh38", "startPosition": 134078701 } ], "primaryId": "HGNC:657", "crossReferences": [ { "id": "ENSEMBL:ENSG00000271525" }, { "id": "NCBI_Gene:380" }, { "pages": [ "gene/references" ], "id": "RGD:1348063" }, { "pages": [ "gene" ], "id": "HGNC:657" }, { "id": "RGD:1348063" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARF4P2", "geneSynopsis": "INTERACTS WITH aristolochic acid A", "soTermId": "SO:0000336", "name": "ARF GTPase 4 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor 4 pseudogene 2", "dJ885L7.7" ], "secondaryIds": [ "RGD:1351076" ], "genomeLocations": [ { "strand": "-", "endPosition": 62873280, "chromosome": "20", "assembly": "GRCh38", "startPosition": 62871973 } ], "primaryId": "HGNC:16599", "crossReferences": [ { "id": "ENSEMBL:ENSG00000236527" }, { "id": "NCBI_Gene:170485" }, { "pages": [ "gene/references" ], "id": "RGD:1351076" }, { "pages": [ "gene" ], "id": "HGNC:16599" }, { "id": "RGD:1351076" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARF4P3", "soTermId": "SO:0000336", "name": "ARF GTPase 4 pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor 4 pseudogene 3" ], "secondaryIds": [ "RGD:1602801" ], "genomeLocations": [ { "strand": "-", "endPosition": 100757162, "chromosome": "13", "assembly": "GRCh38", "startPosition": 100755392 } ], "primaryId": "HGNC:32380", "crossReferences": [ { "id": "ENSEMBL:ENSG00000214051" }, { "id": "NCBI_Gene:390423" }, { "pages": [ "gene/references" ], "id": "RGD:1602801" }, { "pages": [ "gene" ], "id": "HGNC:32380" }, { "id": "RGD:1602801" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARF4P4", "soTermId": "SO:0000336", "name": "ARF GTPase 4 pseudogene 4", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor 4 pseudogene 4" ], "secondaryIds": [ "RGD:2798791" ], "genomeLocations": [ { "strand": "+", "endPosition": 80889184, "chromosome": "13", "assembly": "GRCh38", "startPosition": 80888145 } ], "primaryId": "HGNC:37628", "crossReferences": [ { "id": "ENSEMBL:ENSG00000231222" }, { "id": "NCBI_Gene:100129023" }, { "pages": [ "gene/references" ], "id": "RGD:2798791" }, { "pages": [ "gene" ], "id": "HGNC:37628" }, { "id": "RGD:2798791" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARF4P5", "soTermId": "SO:0000336", "name": "ARF GTPase 4 pseudogene 5", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor 4 pseudogene 5" ], "secondaryIds": [ "RGD:2792834" ], "genomeLocations": [ { "strand": "+", "endPosition": 83573616, "chromosome": "1", "assembly": "GRCh38", "startPosition": 83572722 } ], "primaryId": "HGNC:37629", "crossReferences": [ { "id": "NCBI_Gene:100316867" }, { "pages": [ "gene/references" ], "id": "RGD:2792834" }, { "pages": [ "gene" ], "id": "HGNC:37629" }, { "id": "RGD:2792834" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARF5", "geneSynopsis": "This gene is a member of the human ADP-ribosylation factor (ARF) gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The members of each class share a common gene organization. [provided by RefSeq, Dec 2010]", "soTermId": "SO:0001217", "name": "ARF GTPase 5", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor 5", "ADP-ribosylation factor 5" ], "secondaryIds": [ "RGD:732462" ], "genomeLocations": [ { "strand": "+", "endPosition": 127591700, "chromosome": "7", "assembly": "GRCh38", "startPosition": 127588370 } ], "primaryId": "HGNC:658", "crossReferences": [ { "id": "ENSEMBL:ENSG00000004059" }, { "id": "NCBI_Gene:381" }, { "id": "PANTHER:PTHR11711" }, { "id": "UniProtKB:P84085" }, { "pages": [ "gene/references" ], "id": "RGD:732462" }, { "pages": [ "gene" ], "id": "HGNC:658" }, { "id": "RGD:732462" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARF6", "geneSynopsis": "This gene encodes a member of the human ARF gene family, which is part of the RAS superfamily. The ARF genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The product of this gene is localized to the plasma membrane, and regulates vesicular trafficking, remodelling of membrane lipids, and signaling pathways that lead to actin remodeling. A pseudogene of this gene is located on chromosome 7. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ARF GTPase 6", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor 6", "ADP-ribosylation factor 6", "DKFZp564M0264" ], "secondaryIds": [ "RGD:734181" ], "genomeLocations": [ { "strand": "+", "endPosition": 49897054, "chromosome": "14", "assembly": "GRCh38", "startPosition": 49892608 } ], "primaryId": "HGNC:659", "crossReferences": [ { "id": "ENSEMBL:ENSG00000165527" }, { "id": "NCBI_Gene:382" }, { "id": "PANTHER:PTHR11711" }, { "id": "UniProtKB:P62330" }, { "pages": [ "gene/references" ], "id": "RGD:734181" }, { "pages": [ "gene" ], "id": "HGNC:659" }, { "id": "RGD:734181" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARFGAP1", "geneSynopsis": "The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]", "soTermId": "SO:0001217", "name": "ARF GTPase activating protein 1", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor GTPase activating protein 1", "ADP-ribosylation factor 1 GTPase activating protein", "ADP-ribosylation factor 1 GTPase-activating protein", "ADP-ribosylation factor GTPase activating protein 1", "ADP-ribosylation factor GTPase-activating protein 1", "ARF GAP 1", "ARF1 GAP", "ARF1-directed GTPase-activating protein", "ARF1GAP", "GAP protein", "HRIHFB2281", "MGC39924" ], "secondaryIds": [ "RGD:1352175" ], "genomeLocations": [ { "strand": "+", "endPosition": 63289790, "chromosome": "20", "assembly": "GRCh38", "startPosition": 63272785 } ], "primaryId": "HGNC:15852", "crossReferences": [ { "id": "ENSEMBL:ENSG00000101199" }, { "id": "NCBI_Gene:55738" }, { "id": "PANTHER:PTHR46395" }, { "id": "UniProtKB:Q8N6T3" }, { "pages": [ "gene/references" ], "id": "RGD:1352175" }, { "pages": [ "gene" ], "id": "HGNC:15852" }, { "id": "RGD:1352175" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARFGAP2", "geneSynopsis": "Predicted to enable GTPase activator activity. Predicted to be involved in COPI coating of Golgi vesicle. Located in Golgi apparatus; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ARF GTPase activating protein 2", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor GTPase activating protein 2", "ADP-ribosylation factor GTPase activating protein 2", "ADP-ribosylation factor GTPase-activating protein 2", "ARF GAP 2", "FLJ14576", "FLJ26000", "GTPase-activating protein ZNF289", "IRZ", "Nbla10535", "ZNF289", "Zfp289", "putative protein product of Nbla10535", "zinc finger protein 289, ID1 regulated" ], "secondaryIds": [ "RGD:1314646" ], "genomeLocations": [ { "strand": "-", "endPosition": 47177474, "chromosome": "11", "assembly": "GRCh38", "startPosition": 47164299 } ], "primaryId": "HGNC:13504", "crossReferences": [ { "id": "ENSEMBL:ENSG00000149182" }, { "id": "NCBI_Gene:84364" }, { "id": "PANTHER:PTHR45686" }, { "id": "UniProtKB:Q8N6H7" }, { "pages": [ "gene/references" ], "id": "RGD:1314646" }, { "pages": [ "gene" ], "id": "HGNC:13504" }, { "id": "RGD:1314646" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARFGAP3", "geneSynopsis": "The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with target compartments. The activity of this protein is sensitive to phospholipids. Multiple transcript variants encoding different isoforms have been found for this gene. This gene was originally known as ARFGAP1, but that is now the name of a related but different gene. [provided by RefSeq, Nov 2008]", "soTermId": "SO:0001217", "name": "ARF GTPase activating protein 3", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor GTPase activating protein 3", "ADP-ribosylation factor GTPase activating protein 1", "ADP-ribosylation factor GTPase activating protein 3", "ADP-ribosylation factor GTPase-activating protein 3", "ARF GAP 3", "ARFGAP1", "FLJ45618" ], "secondaryIds": [ "RGD:1344539" ], "genomeLocations": [ { "strand": "-", "endPosition": 42858106, "chromosome": "22", "assembly": "GRCh38", "startPosition": 42796502 } ], "primaryId": "HGNC:661", "crossReferences": [ { "id": "ENSEMBL:ENSG00000242247" }, { "id": "NCBI_Gene:26286" }, { "id": "PANTHER:PTHR45686" }, { "id": "UniProtKB:Q9NP61" }, { "pages": [ "gene/references" ], "id": "RGD:1344539" }, { "pages": [ "gene" ], "id": "HGNC:661" }, { "id": "RGD:1344539" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARFGEF1", "geneSynopsis": "ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011]", "soTermId": "SO:0001217", "name": "ARF guanine nucleotide exchange factor 1", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor guanine nucleotide exchange factor 1", "ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)", "ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited)", "ARFGEP1", "BIG1", "D730028O18Rik", "DEDISB", "DKFZP434L057", "P200", "brefeldin A-inhibited GEP 1", "brefeldin A-inhibited guanine nucleotide-exchange protein 1", "p200 ARF guanine nucleotide exchange factor", "p200 ARF-GEP1" ], "secondaryIds": [ "RGD:1348298" ], "genomeLocations": [ { "strand": "-", "endPosition": 67343961, "chromosome": "8", "assembly": "GRCh38", "startPosition": 67173511 } ], "primaryId": "HGNC:15772", "crossReferences": [ { "id": "ENSEMBL:ENSG00000066777" }, { "id": "NCBI_Gene:10565" }, { "id": "PANTHER:PTHR10663" }, { "id": "UniProtKB:Q9Y6D6" }, { "pages": [ "gene/references" ], "id": "RGD:1348298" }, { "pages": [ "gene" ], "id": "HGNC:15772" }, { "id": "RGD:1348298" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARFGEF1-DT", "geneSynopsis": "ASSOCIATED WITH prostate cancer; INTERACTS WITH okadaic acid", "soTermId": "SO:0001263", "name": "ARFGEF1 divergent transcript", "basicGeneticEntity": { "synonyms": [ "LOC102724708", "lncDDR", "uncharacterized LOC102724708" ], "secondaryIds": [ "RGD:38604406" ], "genomeLocations": [ { "strand": "+", "endPosition": 67491875, "chromosome": "8", "assembly": "GRCh38", "startPosition": 67343138 } ], "primaryId": "HGNC:55237", "crossReferences": [ { "id": "ENSEMBL:ENSG00000271966" }, { "id": "NCBI_Gene:102724708" }, { "pages": [ "gene/references" ], "id": "RGD:38604406" }, { "pages": [ "gene" ], "id": "HGNC:55237" }, { "id": "RGD:38604406" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARFGEF2", "geneSynopsis": "ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ARF guanine nucleotide exchange factor 2", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor guanine nucleotide exchange factor 2", "ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)", "BIG2", "FLJ23723", "PVNH2", "brefeldin A-inhibited GEP 2", "brefeldin A-inhibited guanine nucleotide-exchange protein 2", "dJ1164I10.1" ], "secondaryIds": [ "RGD:736641" ], "genomeLocations": [ { "strand": "+", "endPosition": 49036693, "chromosome": "20", "assembly": "GRCh38", "startPosition": 48921711 } ], "primaryId": "HGNC:15853", "crossReferences": [ { "id": "ENSEMBL:ENSG00000124198" }, { "id": "NCBI_Gene:10564" }, { "id": "PANTHER:PTHR10663" }, { "id": "UniProtKB:Q9Y6D5" }, { "pages": [ "gene/references" ], "id": "RGD:736641" }, { "pages": [ "gene" ], "id": "HGNC:15853" }, { "id": "RGD:736641" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARFGEF3", "geneSynopsis": "Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of ARF protein signal transduction. Predicted to be located in transport vesicle membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ARFGEF family member 3", "basicGeneticEntity": { "synonyms": [ "A7322", "BIG3", "C6orf92", "FLJ32064", "KIAA1244", "PPP1R33", "RP3-422G23.4", "brefeldin A-inhibited guanine nucleotide-exchange protein 3", "chromosome 6 open reading frame 92", "dJ171N11.1", "dJ55C23.6", "protein phosphatase 1, regulatory subunit 33" ], "secondaryIds": [ "RGD:1320499" ], "genomeLocations": [ { "strand": "+", "endPosition": 138344663, "chromosome": "6", "assembly": "GRCh38", "startPosition": 138161939 } ], "primaryId": "HGNC:21213", "crossReferences": [ { "id": "ENSEMBL:ENSG00000112379" }, { "id": "NCBI_Gene:57221" }, { "id": "PANTHER:PTHR10663" }, { "id": "UniProtKB:Q5TH69" }, { "pages": [ "gene/references" ], "id": "RGD:1320499" }, { "pages": [ "gene" ], "id": "HGNC:21213" }, { "id": "RGD:1320499" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARFIP1", "geneSynopsis": "Enables phosphatidylinositol-4-phosphate binding activity. Involved in negative regulation of retrograde transport, endosome to Golgi. Acts upstream of or within intracellular protein transport and regulation of protein secretion. Located in Golgi membrane; cytosol; and trans-Golgi network membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ARF interacting protein 1", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor interacting protein 1", "ADP-ribosylation factor-interacting protein 1", "HSU52521", "MGC117369", "arfaptin 1", "arfaptin-1" ], "secondaryIds": [ "RGD:732747" ], "genomeLocations": [ { "strand": "+", "endPosition": 152918463, "chromosome": "4", "assembly": "GRCh38", "startPosition": 152779096 } ], "primaryId": "HGNC:21496", "crossReferences": [ { "id": "ENSEMBL:ENSG00000164144" }, { "id": "NCBI_Gene:27236" }, { "id": "PANTHER:PTHR12141" }, { "id": "UniProtKB:P53367" }, { "pages": [ "gene/references" ], "id": "RGD:732747" }, { "pages": [ "gene" ], "id": "HGNC:21496" }, { "id": "RGD:732747" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARFIP2", "geneSynopsis": "Enables several functions, including GTP-dependent protein binding activity; membrane curvature sensor activity; and phosphatidylinositol-4-phosphate binding activity. Involved in actin cytoskeleton organization; mitophagy; and protein localization to phagophore assembly site. Located in several cellular components, including nucleolus; ruffle; and trans-Golgi network membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ARF interacting protein 2", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor interacting protein 2", "ADP-ribosylation factor-interacting protein 2", "FLJ18046", "FLJ18697", "FLJ99239", "POR1", "arfaptin 2", "arfaptin-2", "partner of RAC1 (arfaptin 2)" ], "secondaryIds": [ "RGD:1349532" ], "genomeLocations": [ { "strand": "-", "endPosition": 6481479, "chromosome": "11", "assembly": "GRCh38", "startPosition": 6474683 } ], "primaryId": "HGNC:17160", "crossReferences": [ { "id": "ENSEMBL:ENSG00000132254" }, { "id": "NCBI_Gene:23647" }, { "id": "PANTHER:PTHR12141" }, { "id": "UniProtKB:P53365" }, { "pages": [ "gene/references" ], "id": "RGD:1349532" }, { "pages": [ "gene" ], "id": "HGNC:17160" }, { "id": "RGD:1349532" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARFRP1", "geneSynopsis": "The protein encoded by this gene is a membrane-associated GTP-ase which localizes to the plasma membrane and is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) proteins. This gene plays a role in membrane trafficking between the trans-Golgi network and endosomes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]", "soTermId": "SO:0001217", "name": "ARF related protein 1", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor related protein 1", "ADP-ribosylation factor related protein 1", "ADP-ribosylation factor-related protein 1", "ARF-related protein 1", "ARL18", "ARP", "Arp1", "SCG10 like-protein", "helicase-like protein NHL" ], "secondaryIds": [ "RGD:732355" ], "genomeLocations": [ { "strand": "-", "endPosition": 63708662, "chromosome": "20", "assembly": "GRCh38", "startPosition": 63698622 } ], "primaryId": "HGNC:662", "crossReferences": [ { "id": "ENSEMBL:ENSG00000101246" }, { "id": "NCBI_Gene:10139" }, { "id": "PANTHER:PTHR45909" }, { "id": "UniProtKB:Q13795" }, { "pages": [ "gene/references" ], "id": "RGD:732355" }, { "pages": [ "gene" ], "id": "HGNC:662" }, { "id": "RGD:732355" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARG1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "arginase 1", "basicGeneticEntity": { "synonyms": [ "arginase, liver", "arginase-1", "liver-type arginase", "type I arginase" ], "secondaryIds": [ "RGD:1353986" ], "genomeLocations": [ { "strand": "+", "endPosition": 131584332, "chromosome": "6", "assembly": "GRCh38", "startPosition": 131470832 } ], "primaryId": "HGNC:663", "crossReferences": [ { "id": "ENSEMBL:ENSG00000118520" }, { "id": "NCBI_Gene:383" }, { "id": "PANTHER:PTHR43782" }, { "id": "UniProtKB:P05089" }, { "pages": [ "gene/references" ], "id": "RGD:1353986" }, { "pages": [ "gene" ], "id": "HGNC:663" }, { "id": "RGD:1353986" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARG2", "geneSynopsis": "Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exists (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type II isoform encoded by this gene, is located in the mitochondria and expressed in extra-hepatic tissues, especially kidney. The physiologic role of this isoform is poorly understood; it is thought to play a role in nitric oxide and polyamine metabolism. Transcript variants of the type II gene resulting from the use of alternative polyadenylation sites have been described. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "arginase 2", "basicGeneticEntity": { "synonyms": [ "L-arginine amidinohydrolase", "L-arginine ureahydrolase", "arginase II", "arginase, type II", "arginase-2, mitochondrial", "kidney arginase", "kidney-type arginase", "non-hepatic arginase", "nonhepatic arginase", "type II arginase" ], "secondaryIds": [ "RGD:732329" ], "genomeLocations": [ { "strand": "+", "endPosition": 67651708, "chromosome": "14", "assembly": "GRCh38", "startPosition": 67619920 } ], "primaryId": "HGNC:664", "crossReferences": [ { "id": "ENSEMBL:ENSG00000081181" }, { "id": "NCBI_Gene:384" }, { "id": "PANTHER:PTHR43782" }, { "id": "UniProtKB:P78540" }, { "pages": [ "gene/references" ], "id": "RGD:732329" }, { "pages": [ "gene" ], "id": "HGNC:664" }, { "id": "RGD:732329" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARG2P1", "soTermId": "SO:0000336", "name": "ARG2 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "LOC100129854", "arginase 2 pseudogene" ], "secondaryIds": [ "RGD:38673747" ], "genomeLocations": [ { "strand": "+", "endPosition": 100178384, "chromosome": "6", "assembly": "GRCh38", "startPosition": 100177103 } ], "primaryId": "HGNC:58660", "crossReferences": [ { "id": "NCBI_Gene:100129854" }, { "pages": [ "gene/references" ], "id": "RGD:38673747" }, { "pages": [ "gene" ], "id": "HGNC:58660" }, { "id": "RGD:38673747" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARGFX", "geneSynopsis": "Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the ARGFX homeobox gene family. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "arginine-fifty homeobox", "basicGeneticEntity": { "secondaryIds": [ "RGD:1605759" ], "genomeLocations": [ { "strand": "+", "endPosition": 121590622, "chromosome": "3", "assembly": "GRCh38", "startPosition": 121567949 } ], "primaryId": "HGNC:30146", "crossReferences": [ { "id": "ENSEMBL:ENSG00000186103" }, { "id": "NCBI_Gene:503582" }, { "id": "PANTHER:PTHR45793" }, { "id": "UniProtKB:A6NJG6" }, { "pages": [ "gene/references" ], "id": "RGD:1605759" }, { "pages": [ "gene" ], "id": "HGNC:30146" }, { "id": "RGD:1605759" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARGFXP1", "geneSynopsis": "Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the ARGFX homeobox gene family. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0000336", "name": "arginine-fifty homeobox pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:1605758" ], "genomeLocations": [ { "strand": "+", "endPosition": 122680538, "chromosome": "5", "assembly": "GRCh38", "startPosition": 122675718 } ], "primaryId": "HGNC:17252", "crossReferences": [ { "id": "ENSEMBL:ENSG00000240058" }, { "id": "NCBI_Gene:503583" }, { "pages": [ "gene/references" ], "id": "RGD:1605758" }, { "pages": [ "gene" ], "id": "HGNC:17252" }, { "id": "RGD:1605758" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARGFXP2", "geneSynopsis": "Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the ARGFX homeobox gene family. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0000336", "name": "arginine-fifty homeobox pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:1602609" ], "genomeLocations": [ { "strand": "-", "endPosition": 32151571, "chromosome": "17", "assembly": "GRCh38", "startPosition": 32150357 } ], "primaryId": "HGNC:23977", "crossReferences": [ { "id": "ENSEMBL:ENSG00000265293" }, { "id": "NCBI_Gene:503640" }, { "pages": [ "gene/references" ], "id": "RGD:1602609" }, { "pages": [ "gene" ], "id": "HGNC:23977" }, { "id": "RGD:1602609" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARGLU1", "geneSynopsis": "Enables pre-mRNA binding activity and transcription coactivator activity. Involved in regulation of alternative mRNA splicing, via spliceosome. Located in cytosol; mitochondrion; and nuclear speck. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "arginine and glutamate rich 1", "basicGeneticEntity": { "synonyms": [ "DKFZp686O08106", "FLJ10154", "RP11-297I6.1", "arginine and glutamate-rich protein 1" ], "secondaryIds": [ "RGD:1605984" ], "genomeLocations": [ { "strand": "-", "endPosition": 106568161, "chromosome": "13", "assembly": "GRCh38", "startPosition": 106541673 } ], "primaryId": "HGNC:25482", "crossReferences": [ { "id": "ENSEMBL:ENSG00000134884" }, { "id": "NCBI_Gene:55082" }, { "id": "PANTHER:PTHR31711" }, { "id": "UniProtKB:Q9NWB6" }, { "pages": [ "gene/references" ], "id": "RGD:1605984" }, { "pages": [ "gene" ], "id": "HGNC:25482" }, { "id": "RGD:1605984" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARGLU1-DT", "geneSynopsis": "INTERACTS WITH sodium arsenite", "soTermId": "SO:0001263", "name": "ARGLU1 divergent transcript", "basicGeneticEntity": { "synonyms": [ "LINC00443", "LINC00551", "RP11-297I6.5", "long intergenic non-protein coding RNA 551" ], "secondaryIds": [ "RGD:5687539" ], "genomeLocations": [ { "strand": "+", "endPosition": 106716679, "chromosome": "13", "assembly": "GRCh38", "startPosition": 106567330 } ], "primaryId": "HGNC:43691", "crossReferences": [ { "id": "ENSEMBL:ENSG00000272274" }, { "id": "NCBI_Gene:283483" }, { "pages": [ "gene/references" ], "id": "RGD:5687539" }, { "pages": [ "gene" ], "id": "HGNC:43691" }, { "id": "RGD:5687539" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP1", "geneSynopsis": "This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein contains a SRC homology 3 domain and interacts with Bcl-2-associated protein family members. [provided by RefSeq, Aug 2012]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 1", "basicGeneticEntity": { "synonyms": [ "CDC42 GTPase-activating protein", "CDC42GAP", "GTPase-activating protein rhoGAP", "GTPase-activating protein rhoOGAP", "GTPase-activating protein, Rho, 1", "RHOGAP", "RHOGAP1", "p50-RhoGAP", "p50rhoGAP", "rho GTPase-activating protein 1", "rho-related small GTPase protein activator", "rho-type GTPase-activating protein 1" ], "secondaryIds": [ "RGD:1314470" ], "genomeLocations": [ { "strand": "-", "endPosition": 46700977, "chromosome": "11", "assembly": "GRCh38", "startPosition": 46677075 } ], "primaryId": "HGNC:673", "crossReferences": [ { "id": "ENSEMBL:ENSG00000175220" }, { "id": "NCBI_Gene:392" }, { "id": "PANTHER:PTHR45808" }, { "id": "UniProtKB:Q07960" }, { "pages": [ "gene/references" ], "id": "RGD:1314470" }, { "pages": [ "gene" ], "id": "HGNC:673" }, { "id": "RGD:1314470" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP10", "geneSynopsis": "Predicted to enable GTPase activator activity. Predicted to be involved in cytoskeleton organization and negative regulation of apoptotic process. Located in cytosol and endosome membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 10", "basicGeneticEntity": { "synonyms": [ "FLJ20896", "FLJ41791", "GRAF2", "GTPase regulator associated with focal adhesion kinase 2", "PS-GAP", "PSGAP", "graf-related protein 2", "rho GTPase-activating protein 10", "rho-type GTPase-activating protein 10" ], "secondaryIds": [ "RGD:1322908" ], "genomeLocations": [ { "strand": "+", "endPosition": 148072780, "chromosome": "4", "assembly": "GRCh38", "startPosition": 147731922 } ], "primaryId": "HGNC:26099", "crossReferences": [ { "id": "ENSEMBL:ENSG00000071205" }, { "id": "NCBI_Gene:79658" }, { "id": "PANTHER:PTHR12552" }, { "id": "UniProtKB:A1A4S6" }, { "pages": [ "gene/references" ], "id": "RGD:1322908" }, { "pages": [ "gene" ], "id": "HGNC:26099" }, { "id": "RGD:1322908" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP11A", "geneSynopsis": "This gene encodes a member of the Rho GTPase activating protein family. In response to DNA damage, the encoded protein interacts with the p53 tumor suppressor protein and stimulates its tetramerization, which results in cell-cycle arrest and apoptosis. A chromosomal deletion that includes this gene is one cause of Prader-Willi syndrome, and an intronic variant of this gene may be associated with sleep duration in children. This gene is highly expressed in colon cancers and in a human basal-like breast cancer cell line. This gene also produces a ARHGAP11A-SCG5 readthrough transcript and ARHGAP11A-SCG5 protein. [provided by RefSeq, Feb 2019]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 11A", "basicGeneticEntity": { "synonyms": [ "GAP (1-12)", "KIAA0013", "MGC70740", "rho GTPase-activating protein 11A", "rho-type GTPase-activating protein 11A" ], "secondaryIds": [ "RGD:1602334" ], "genomeLocations": [ { "strand": "+", "endPosition": 32639952, "chromosome": "15", "assembly": "GRCh38", "startPosition": 32615144 } ], "primaryId": "HGNC:15783", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198826" }, { "id": "ENSEMBL:ENSG00000275568" }, { "id": "NCBI_Gene:9824" }, { "id": "PANTHER:PTHR15670" }, { "id": "UniProtKB:Q6P4F7" }, { "pages": [ "gene/references" ], "id": "RGD:1602334" }, { "pages": [ "gene" ], "id": "HGNC:15783" }, { "id": "RGD:1602334" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP11A-DT", "soTermId": "SO:0001263", "name": "ARHGAP11A divergent transcript", "basicGeneticEntity": { "synonyms": [ "LOC101928042", "uncharacterized LOC101928042" ], "secondaryIds": [ "RGD:38622107" ], "genomeLocations": [ { "strand": "-", "endPosition": 32614746, "chromosome": "15", "assembly": "GRCh38", "startPosition": 32586105 } ], "primaryId": "HGNC:56188", "crossReferences": [ { "id": "NCBI_Gene:101928042" }, { "pages": [ "gene/references" ], "id": "RGD:38622107" }, { "pages": [ "gene" ], "id": "HGNC:56188" }, { "id": "RGD:38622107" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP11A-SCG5", "geneSynopsis": "This locus represents naturally occurring readthrough transcription between the neighboring ARHGAP11A (Rho GTPase activating protein 11A) and SCG5 (secretogranin V) genes on chromosome 15q13.3. The readthrough transcript encodes a fusion protein that shares sequence identity with both the ARHGAP11A and SCG5 gene products. [provided by RefSeq, Feb 2019]", "soTermId": "SO:0001217", "name": "ARHGAP11A-SCG5 readthrough", "basicGeneticEntity": { "synonyms": [ "ARHGAP11A-SCG5 protein" ], "secondaryIds": [ "RGD:38657515" ], "genomeLocations": [ { "strand": "+", "endPosition": 32697098, "chromosome": "15", "assembly": "GRCh38", "startPosition": 32613860 } ], "primaryId": "HGNC:56310", "crossReferences": [ { "id": "ENSEMBL:ENSG00000288864" }, { "id": "NCBI_Gene:114118903" }, { "id": "PANTHER:PTHR15670" }, { "id": "UniProtKB:A0A8I5KWH8" }, { "id": "UniProtKB:A0A8I5KS94" }, { "pages": [ "gene/references" ], "id": "RGD:38657515" }, { "pages": [ "gene" ], "id": "HGNC:56310" }, { "id": "RGD:38657515" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP11B", "geneSynopsis": "Predicted to enable GTPase activator activity. Involved in cerebral cortex development and negative regulation of mitochondrial membrane permeability. Acts upstream of with a positive effect on glutamine catabolic process. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 11B", "basicGeneticEntity": { "synonyms": [ "AC091057.6", "B'-T", "D-X", "FAM7B1", "GAP (1-8)", "MGC104367", "family with sequence similarity 7, member B1", "inactive Rho GTPase-activating protein 11B", "rho GTPase-activating protein 11B", "rho-type GTPase-activating protein 11B" ], "secondaryIds": [ "RGD:1350534" ], "genomeLocations": [ { "strand": "+", "endPosition": 30649529, "chromosome": "15", "assembly": "GRCh38", "startPosition": 30624494 } ], "primaryId": "HGNC:15782", "crossReferences": [ { "id": "ENSEMBL:ENSG00000284906" }, { "id": "ENSEMBL:ENSG00000285077" }, { "id": "ENSEMBL:ENSG00000286139" }, { "id": "ENSEMBL:ENSG00000274734" }, { "id": "NCBI_Gene:89839" }, { "id": "PANTHER:PTHR15670" }, { "id": "UniProtKB:Q3KRB8" }, { "pages": [ "gene/references" ], "id": "RGD:1350534" }, { "pages": [ "gene" ], "id": "HGNC:15782" }, { "id": "RGD:1350534" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP11B-DT", "geneSynopsis": "INTERACTS WITH okadaic acid", "soTermId": "SO:0001263", "name": "ARHGAP11B divergent transcript", "basicGeneticEntity": { "synonyms": [ "LOC102725021", "uncharacterized LOC102725021" ], "secondaryIds": [ "RGD:38611548" ], "genomeLocations": [ { "strand": "-", "endPosition": 30626012, "chromosome": "15", "assembly": "GRCh38", "startPosition": 30481013 } ], "primaryId": "HGNC:55586", "crossReferences": [ { "id": "ENSEMBL:ENSG00000247728" }, { "id": "NCBI_Gene:102725021" }, { "pages": [ "gene/references" ], "id": "RGD:38611548" }, { "pages": [ "gene" ], "id": "HGNC:55586" }, { "id": "RGD:38611548" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP12", "geneSynopsis": "This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 12", "basicGeneticEntity": { "synonyms": [ "DKFZp779N2050", "FLJ10971", "FLJ20737", "FLJ21785", "FLJ45709", "rho GTPase-activating protein 12", "rho-type GTPase-activating protein 12" ], "secondaryIds": [ "RGD:1320676" ], "genomeLocations": [ { "strand": "-", "endPosition": 31928876, "chromosome": "10", "assembly": "GRCh38", "startPosition": 31805398 } ], "primaryId": "HGNC:16348", "crossReferences": [ { "id": "ENSEMBL:ENSG00000165322" }, { "id": "NCBI_Gene:94134" }, { "id": "PANTHER:PTHR23176" }, { "id": "UniProtKB:Q8IWW6" }, { "pages": [ "gene/references" ], "id": "RGD:1320676" }, { "pages": [ "gene" ], "id": "HGNC:16348" }, { "id": "RGD:1320676" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP15", "geneSynopsis": "RHO GTPases (see ARHA; MIM 165390) regulate diverse biologic processes, and their activity is regulated by RHO GTPase-activating proteins (GAPs), such as ARHGAP15 (Seoh et al., 2003 [PubMed 12650940]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 15", "basicGeneticEntity": { "synonyms": [ "BM046", "rho GTPase-activating protein 15", "rho-type GTPase-activating protein 15" ], "secondaryIds": [ "RGD:1348610" ], "genomeLocations": [ { "strand": "+", "endPosition": 143768352, "chromosome": "2", "assembly": "GRCh38", "startPosition": 143091362 } ], "primaryId": "HGNC:21030", "crossReferences": [ { "id": "ENSEMBL:ENSG00000075884" }, { "id": "NCBI_Gene:55843" }, { "id": "PANTHER:PTHR23176" }, { "id": "UniProtKB:Q53QZ3" }, { "pages": [ "gene/references" ], "id": "RGD:1348610" }, { "pages": [ "gene" ], "id": "HGNC:21030" }, { "id": "RGD:1348610" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP15-AS1", "geneSynopsis": "INTERACTS WITH lipopolysaccharide; S-(1,2-dichlorovinyl)-L-cysteine", "soTermId": "SO:0001263", "name": "ARHGAP15 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:14696754" ], "genomeLocations": [ { "strand": "-", "endPosition": 143776098, "chromosome": "2", "assembly": "GRCh38", "startPosition": 143640756 } ], "primaryId": "HGNC:40949", "crossReferences": [ { "id": "NCBI_Gene:105373654" }, { "pages": [ "gene/references" ], "id": "RGD:14696754" }, { "pages": [ "gene" ], "id": "HGNC:40949" }, { "id": "RGD:14696754" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP16P", "soTermId": "SO:0000336", "name": "Rho GTPase activating protein 16, pseudogene", "basicGeneticEntity": { "synonyms": [ "ARHGAP15P", "Rho GTPase activating protein 16 pseudogene" ], "secondaryIds": [ "RGD:1351374" ], "genomeLocations": [ { "strand": "+", "endPosition": 43596122, "chromosome": "14", "assembly": "GRCh38", "startPosition": 43595179 } ], "primaryId": "HGNC:19921", "crossReferences": [ { "id": "NCBI_Gene:319102" }, { "pages": [ "gene/references" ], "id": "RGD:1351374" }, { "pages": [ "gene" ], "id": "HGNC:19921" }, { "id": "RGD:1351374" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP17", "geneSynopsis": "RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr 2004]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 17", "basicGeneticEntity": { "synonyms": [ "DKFZp564A1363", "FLJ37567", "FLJ43368", "MGC87805", "MST066", "MST110", "MSTP038", "MSTP066", "MSTP110", "NADRIN", "PP367", "PP4534", "RICH-1", "RICH1", "RICH1B", "RhoGAP interacting with CIP4 homologs 1", "WBP15", "neuron-associated developmentally regulated protein", "rho GTPase-activating protein 17", "rho-type GTPase-activating protein 17", "rhoGAP interacting with CIP4 homologs protein 1" ], "secondaryIds": [ "RGD:1343283" ], "genomeLocations": [ { "strand": "-", "endPosition": 25015666, "chromosome": "16", "assembly": "GRCh38", "startPosition": 24919389 } ], "primaryId": "HGNC:18239", "crossReferences": [ { "id": "ENSEMBL:ENSG00000140750" }, { "id": "ENSEMBL:ENSG00000288353" }, { "id": "NCBI_Gene:55114" }, { "id": "PANTHER:PTHR14130" }, { "id": "UniProtKB:Q68EM7" }, { "pages": [ "gene/references" ], "id": "RGD:1343283" }, { "pages": [ "gene" ], "id": "HGNC:18239" }, { "id": "RGD:1343283" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP18", "geneSynopsis": "Enables GTPase activator activity. Involved in several processes, including regulation of actin filament polymerization; regulation of small GTPase mediated signal transduction; and small GTPase-mediated signal transduction. Located in cytosol; nuclear speck; and plasma membrane. Part of cytoplasmic microtubule and ruffle. Implicated in schizophrenia. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 18", "basicGeneticEntity": { "synonyms": [ "FLJ25728", "MGC126757", "MGC138145", "MacGAP", "SENEX", "bA307O14.2", "rho GTPase-activating protein 18", "rho-type GTPase-activating protein 18" ], "secondaryIds": [ "RGD:1312852" ], "genomeLocations": [ { "strand": "-", "endPosition": 129710247, "chromosome": "6", "assembly": "GRCh38", "startPosition": 129576132 } ], "primaryId": "HGNC:21035", "crossReferences": [ { "id": "ENSEMBL:ENSG00000146376" }, { "id": "NCBI_Gene:93663" }, { "id": "PANTHER:PTHR14963" }, { "id": "UniProtKB:Q8N392" }, { "pages": [ "gene/references" ], "id": "RGD:1312852" }, { "pages": [ "gene" ], "id": "HGNC:21035" }, { "id": "RGD:1312852" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP19", "geneSynopsis": "Members of the ARHGAP family, such as ARHGAP19, encode negative regulators of Rho GTPases (see RHOA; MIM 165390), which are involved in cell migration, proliferation, and differentiation, actin remodeling, and G1 cell cycle progression (Lv et al., 2007 [PubMed 17454002]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 19", "basicGeneticEntity": { "synonyms": [ "CMT2KK", "DKFZp313K217", "MGC138804", "MGC138805", "MGC14258", "putative RhoGAP protein", "rho GTPase-activating protein 19", "rho-type GTPase-activating protein 19" ], "secondaryIds": [ "RGD:1351019" ], "genomeLocations": [ { "strand": "-", "endPosition": 97292673, "chromosome": "10", "assembly": "GRCh38", "startPosition": 97222173 } ], "primaryId": "HGNC:23724", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213390" }, { "id": "NCBI_Gene:84986" }, { "id": "PANTHER:PTHR14963" }, { "id": "UniProtKB:Q14CB8" }, { "pages": [ "gene/references" ], "id": "RGD:1351019" }, { "pages": [ "gene" ], "id": "HGNC:23724" }, { "id": "RGD:1351019" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP19-SLIT1", "geneSynopsis": "This locus represents naturally occurring read-through transcription between the neighboring Rho GTPase activating protein 19 (ARHGAP19) and slit homolog 1 (SLIT1) genes on chromosome 10. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011]", "soTermId": "SO:0001263", "name": "ARHGAP19-SLIT1 readthrough (NMD candidate)", "basicGeneticEntity": { "synonyms": [ "ARHGAP19" ], "secondaryIds": [ "RGD:7243277" ], "genomeLocations": [ { "strand": "-", "endPosition": 97292673, "chromosome": "10", "assembly": "GRCh38", "startPosition": 97153042 } ], "primaryId": "HGNC:48348", "crossReferences": [ { "id": "ENSEMBL:ENSG00000269891" }, { "id": "NCBI_Gene:100533184" }, { "pages": [ "gene/references" ], "id": "RGD:7243277" }, { "pages": [ "gene" ], "id": "HGNC:48348" }, { "id": "RGD:7243277" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP20", "geneSynopsis": "The protein encoded by this gene is an activator of RHO-type GTPases, transducing a signal from RAP1 to RHO and impacting neurite outgrowth. [provided by RefSeq, Sep 2016]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 20", "basicGeneticEntity": { "synonyms": [ "KIAA1391", "RA and RhoGAP domain containing protein", "RARHOGAP", "rho GTPase activating protein 20 variant 2", "rho GTPase-activating protein 20", "rho-type GTPase-activating protein 20" ], "secondaryIds": [ "RGD:1350363" ], "genomeLocations": [ { "strand": "-", "endPosition": 110713189, "chromosome": "11", "assembly": "GRCh38", "startPosition": 110577042 } ], "primaryId": "HGNC:18357", "crossReferences": [ { "id": "ENSEMBL:ENSG00000137727" }, { "id": "NCBI_Gene:57569" }, { "id": "PANTHER:PTHR23179" }, { "id": "UniProtKB:Q9P2F6" }, { "pages": [ "gene/references" ], "id": "RGD:1350363" }, { "pages": [ "gene" ], "id": "HGNC:18357" }, { "id": "RGD:1350363" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP21", "geneSynopsis": "ARHGAP21 functions preferentially as a GTPase-activating protein (GAP) for CDC42 (MIM 116952) and regulates the ARP2/3 complex (MIM 604221) and F-actin dynamics at the Golgi through control of CDC42 activity (Dubois et al., 2005 [PubMed 15793564]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 21", "basicGeneticEntity": { "synonyms": [ "ARHGAP10", "DKFZp761L0424", "FLJ33323", "FLJ90108", "Rho-GTPase activating protein 10", "rho GTPase-activating protein 10", "rho GTPase-activating protein 21", "rho-type GTPase-activating protein 21" ], "secondaryIds": [ "RGD:1322263" ], "genomeLocations": [ { "strand": "-", "endPosition": 24723887, "chromosome": "10", "assembly": "GRCh38", "startPosition": 24583609 } ], "primaryId": "HGNC:23725", "crossReferences": [ { "id": "ENSEMBL:ENSG00000107863" }, { "id": "NCBI_Gene:57584" }, { "id": "PANTHER:PTHR23175" }, { "id": "UniProtKB:Q5T5U3" }, { "pages": [ "gene/references" ], "id": "RGD:1322263" }, { "pages": [ "gene" ], "id": "HGNC:23725" }, { "id": "RGD:1322263" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP22", "geneSynopsis": "This gene encodes a member of the GTPase activating protein family which activates a GTPase belonging to the RAS superfamily of small GTP-binding proteins. The encoded protein is insulin-responsive, is dependent on the kinase Akt and requires the Akt-dependent 14-3-3 binding protein which binds sequentially to two serine residues. The result of these interactions is regulation of cell motility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 22", "basicGeneticEntity": { "synonyms": [ "RhoGAP2", "RhoGap22", "rho GTPase-activating protein 22", "rho-type GTPase-activating protein 22" ], "secondaryIds": [ "RGD:1316310" ], "genomeLocations": [ { "strand": "-", "endPosition": 48656265, "chromosome": "10", "assembly": "GRCh38", "startPosition": 48429831 } ], "primaryId": "HGNC:30320", "crossReferences": [ { "id": "ENSEMBL:ENSG00000128805" }, { "id": "NCBI_Gene:58504" }, { "id": "PANTHER:PTHR15228" }, { "id": "UniProtKB:Q7Z5H3" }, { "pages": [ "gene/references" ], "id": "RGD:1316310" }, { "pages": [ "gene" ], "id": "HGNC:30320" }, { "id": "RGD:1316310" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP22-IT1", "soTermId": "SO:0001263", "name": "ARHGAP22 intronic transcript 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6480346" ], "genomeLocations": [ { "strand": "-", "endPosition": 48511707, "chromosome": "10", "assembly": "GRCh38", "startPosition": 48509852 } ], "primaryId": "HGNC:42944", "crossReferences": [ { "id": "ENSEMBL:ENSG00000248682" }, { "id": "NCBI_Gene:100689073" }, { "pages": [ "gene/references" ], "id": "RGD:6480346" }, { "pages": [ "gene" ], "id": "HGNC:42944" }, { "id": "RGD:6480346" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP23", "geneSynopsis": "The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 23", "basicGeneticEntity": { "synonyms": [ "KIAA1501", "rho GTPase-activating protein 23", "rho-type GTPase-activating protein 23" ], "secondaryIds": [ "RGD:1320244" ], "genomeLocations": [ { "strand": "+", "endPosition": 38512385, "chromosome": "17", "assembly": "GRCh38", "startPosition": 38419275 } ], "primaryId": "HGNC:29293", "crossReferences": [ { "id": "ENSEMBL:ENSG00000275832" }, { "id": "ENSEMBL:ENSG00000273780" }, { "id": "NCBI_Gene:57636" }, { "id": "PANTHER:PTHR23175" }, { "id": "UniProtKB:Q9P227" }, { "pages": [ "gene/references" ], "id": "RGD:1320244" }, { "pages": [ "gene" ], "id": "HGNC:29293" }, { "id": "RGD:1320244" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP23P1", "geneSynopsis": "INTERACTS WITH lipopolysaccharide; S-(1,2-dichlorovinyl)-L-cysteine", "soTermId": "SO:0000336", "name": "Rho GTPase activating protein 23 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:7491995" ], "genomeLocations": [ { "strand": "-", "endPosition": 33937024, "chromosome": "16", "assembly": "GRCh38", "startPosition": 33905431 } ], "primaryId": "HGNC:45039", "crossReferences": [ { "id": "ENSEMBL:ENSG00000260781" }, { "id": "NCBI_Gene:102577425" }, { "pages": [ "gene/references" ], "id": "RGD:7491995" }, { "pages": [ "gene" ], "id": "HGNC:45039" }, { "id": "RGD:7491995" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP24", "geneSynopsis": "This gene encodes a Rho-GTPase activating protein, which is specific for the small GTPase family member Rac. Binding of the encoded protein by filamin A targets it to sites of membrane protrusion, where it antognizes Rac. This results in suppression of lamellae formation and promotion of retraction to regulate cell polarity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 24", "basicGeneticEntity": { "synonyms": [ "DKFZp564B1162", "FILGAP", "FLJ33877", "RAC1- and CDC42-specific GTPase-activating protein of 72 kDa", "RC-GAP72", "RCGAP72", "filamin-A-associated RhoGAP", "p73", "p73RhoGAP", "rho GTPase-activating protein 24", "rho-type GTPase-activating protein 24", "rhoGAP of 73 kDa", "sarcoma antigen NY-SAR-88" ], "secondaryIds": [ "RGD:1315415" ], "genomeLocations": [ { "strand": "+", "endPosition": 86002668, "chromosome": "4", "assembly": "GRCh38", "startPosition": 85475150 } ], "primaryId": "HGNC:25361", "crossReferences": [ { "id": "ENSEMBL:ENSG00000138639" }, { "id": "NCBI_Gene:83478" }, { "id": "PANTHER:PTHR15228" }, { "id": "UniProtKB:Q8N264" }, { "pages": [ "gene/references" ], "id": "RGD:1315415" }, { "pages": [ "gene" ], "id": "HGNC:25361" }, { "id": "RGD:1315415" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP24-AS1", "soTermId": "SO:0001263", "name": "ARHGAP24 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:629021588" ], "primaryId": "HGNC:58841", "crossReferences": [ { "id": "NCBI_Gene:144093423" }, { "pages": [ "gene/references" ], "id": "RGD:629021588" }, { "pages": [ "gene" ], "id": "HGNC:58841" }, { "id": "RGD:629021588" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP25", "geneSynopsis": "ARHGAPs, such as ARHGAP25, encode negative regulators of Rho GTPases (see ARHA; MIM 165390), which are implicated in actin remodeling, cell polarity, and cell migration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 25", "basicGeneticEntity": { "synonyms": [ "HEL-S-308", "KAIA0053", "epididymis secretory protein Li 308", "rho GTPase-activating protein 25", "rho-type GTPase-activating protein 25" ], "secondaryIds": [ "RGD:1351716" ], "genomeLocations": [ { "strand": "+", "endPosition": 68826833, "chromosome": "2", "assembly": "GRCh38", "startPosition": 68679601 } ], "primaryId": "HGNC:28951", "crossReferences": [ { "id": "ENSEMBL:ENSG00000163219" }, { "id": "NCBI_Gene:9938" }, { "id": "PANTHER:PTHR15228" }, { "id": "UniProtKB:P42331" }, { "pages": [ "gene/references" ], "id": "RGD:1351716" }, { "pages": [ "gene" ], "id": "HGNC:28951" }, { "id": "RGD:1351716" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP26", "geneSynopsis": "Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 26", "basicGeneticEntity": { "synonyms": [ "FLJ42530", "GRAF", "GRAF1", "GTPase regulator associated with focal adhesion kinase pp125(FAK)", "KIAA0621", "OPHN1L", "OPHN1L1", "oligophrenin-1-like protein", "rho GTPase-activating protein 26", "rho-type GTPase-activating protein 26" ], "secondaryIds": [ "RGD:1322105" ], "genomeLocations": [ { "strand": "+", "endPosition": 143229011, "chromosome": "5", "assembly": "GRCh38", "startPosition": 142770377 } ], "primaryId": "HGNC:17073", "crossReferences": [ { "id": "ENSEMBL:ENSG00000145819" }, { "id": "NCBI_Gene:23092" }, { "id": "PANTHER:PTHR12552" }, { "id": "UniProtKB:Q9UNA1" }, { "pages": [ "gene/references" ], "id": "RGD:1322105" }, { "pages": [ "gene" ], "id": "HGNC:17073" }, { "id": "RGD:1322105" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP26-AS1", "geneSynopsis": "INTERACTS WITH 2-hydroxypropanoic acid; rac-lactic acid", "soTermId": "SO:0001263", "name": "ARHGAP26 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AC008533.1" ], "secondaryIds": [ "RGD:6481189" ], "genomeLocations": [ { "strand": "-", "endPosition": 142871204, "chromosome": "5", "assembly": "GRCh38", "startPosition": 142859600 } ], "primaryId": "HGNC:40792", "crossReferences": [ { "id": "ENSEMBL:ENSG00000226272" }, { "id": "NCBI_Gene:100874239" }, { "pages": [ "gene/references" ], "id": "RGD:6481189" }, { "pages": [ "gene" ], "id": "HGNC:40792" }, { "id": "RGD:6481189" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP26-IT1", "geneSynopsis": "INTERACTS WITH 2-hydroxypropanoic acid; lipopolysaccharide; rac-lactic acid", "soTermId": "SO:0001263", "name": "ARHGAP26 intronic transcript 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6480967" ], "genomeLocations": [ { "strand": "+", "endPosition": 143194166, "chromosome": "5", "assembly": "GRCh38", "startPosition": 143191956 } ], "primaryId": "HGNC:41429", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230789" }, { "id": "NCBI_Gene:100874372" }, { "pages": [ "gene/references" ], "id": "RGD:6480967" }, { "pages": [ "gene" ], "id": "HGNC:41429" }, { "id": "RGD:6480967" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP27", "geneSynopsis": "This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may pay a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2013]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 27", "basicGeneticEntity": { "synonyms": [ "CAMGAP1", "CIN85-associated multi-domain-containing Rho GTPase-activating protein 1", "FLJ35572", "FLJ43547", "FLJ76025", "MGC120624", "MGC78393", "PP905", "SH3 domain containing 20", "SH3 domain-containing protein 20", "SH3D20", "SH3P20", "rho GTPase-activating protein 27", "rho-type GTPase-activating protein 27" ], "secondaryIds": [ "RGD:1346833" ], "genomeLocations": [ { "strand": "-", "endPosition": 45434421, "chromosome": "17", "assembly": "GRCh38", "startPosition": 45393898 } ], "primaryId": "HGNC:31813", "crossReferences": [ { "id": "ENSEMBL:ENSG00000276836" }, { "id": "ENSEMBL:ENSG00000159314" }, { "id": "ENSEMBL:ENSG00000276907" }, { "id": "NCBI_Gene:201176" }, { "id": "PANTHER:PTHR23176" }, { "id": "UniProtKB:Q6ZUM4" }, { "pages": [ "gene/references" ], "id": "RGD:1346833" }, { "pages": [ "gene" ], "id": "HGNC:31813" }, { "id": "RGD:1346833" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP27P1", "geneSynopsis": "INTERACTS WITH 17beta-estradiol; arsenite(3-); leflunomide", "soTermId": "SO:0000336", "name": "Rho GTPase activating protein 27 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:11571013" ], "genomeLocations": [ { "strand": "-", "endPosition": 64781504, "chromosome": "17", "assembly": "GRCh38", "startPosition": 64778139 } ], "primaryId": "HGNC:28630", "crossReferences": [ { "id": "NCBI_Gene:146880" }, { "pages": [ "gene/references" ], "id": "RGD:11571013" }, { "pages": [ "gene" ], "id": "HGNC:28630" }, { "id": "RGD:11571013" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP27P1-BPTFP1-KPNA2P3", "geneSynopsis": "This locus represents naturally-occurring readthrough transcription between multiple unprocessed pseudogene loci. Readthrough transcripts likely do not encode functional proteins. [provided by RefSeq, Dec 2016]", "soTermId": "SO:0000336", "name": "ARHGAP27P1-BPTFP1-KPNA2P3 readthrough, transcribed pseudogene", "basicGeneticEntity": { "secondaryIds": [ "RGD:11571273" ], "genomeLocations": [ { "strand": "-", "endPosition": 64781999, "chromosome": "17", "assembly": "GRCh38", "startPosition": 64749662 } ], "primaryId": "HGNC:52873", "crossReferences": [ { "id": "ENSEMBL:ENSG00000215769" }, { "id": "NCBI_Gene:109286553" }, { "pages": [ "gene/references" ], "id": "RGD:11571273" }, { "pages": [ "gene" ], "id": "HGNC:52873" }, { "id": "RGD:11571273" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP27P2", "geneSynopsis": "INTERACTS WITH benzo[a]pyrene", "soTermId": "SO:0000336", "name": "Rho GTPase activating protein 27 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:13451065" ], "genomeLocations": [ { "strand": "+", "endPosition": 68200302, "chromosome": "17", "assembly": "GRCh38", "startPosition": 68198660 } ], "primaryId": "HGNC:53771", "crossReferences": [ { "id": "ENSEMBL:ENSG00000267472" }, { "id": "NCBI_Gene:440461" }, { "pages": [ "gene/references" ], "id": "RGD:13451065" }, { "pages": [ "gene" ], "id": "HGNC:53771" }, { "id": "RGD:13451065" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP28", "geneSynopsis": "Predicted to enable GTPase activator activity. Predicted to be involved in negative regulation of stress fiber assembly; regulation of actin filament polymerization; and regulation of small GTPase mediated signal transduction. Located in cell junction and nucleoplasm. Implicated in allergic disease. Biomarker of meningioma. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 28", "basicGeneticEntity": { "synonyms": [ "DKFZp686A2038", "FLJ10312", "FLJ27160", "rho GTPase-activating protein 28", "rho-type GTPase-activating protein 28" ], "secondaryIds": [ "RGD:1347841" ], "genomeLocations": [ { "strand": "+", "endPosition": 6915716, "chromosome": "18", "assembly": "GRCh38", "startPosition": 6729680 } ], "primaryId": "HGNC:25509", "crossReferences": [ { "id": "ENSEMBL:ENSG00000088756" }, { "id": "NCBI_Gene:79822" }, { "id": "PANTHER:PTHR14963" }, { "id": "UniProtKB:Q9P2N2" }, { "pages": [ "gene/references" ], "id": "RGD:1347841" }, { "pages": [ "gene" ], "id": "HGNC:25509" }, { "id": "RGD:1347841" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP28-AS1", "soTermId": "SO:0001263", "name": "ARHGAP28 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LOC101927168", "uncharacterized LOC101927168" ], "secondaryIds": [ "RGD:38639625" ], "genomeLocations": [ { "strand": "-", "endPosition": 6729862, "chromosome": "18", "assembly": "GRCh38", "startPosition": 6728927 } ], "primaryId": "HGNC:55320", "crossReferences": [ { "id": "NCBI_Gene:101927168" }, { "pages": [ "gene/references" ], "id": "RGD:38639625" }, { "pages": [ "gene" ], "id": "HGNC:55320" }, { "id": "RGD:38639625" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP29", "geneSynopsis": "Rap1 is a small GTPase that, through effectors, regulates Rho GTPase signaling. These effectors- Rasip1, Radil, and the protein encoded by this gene- translocate to the cell membrane, where they form a multiprotein complex. This complex is necessary for Rap1-induced inhibition of Rho signaling. Defects in this gene may be a cause of nonsyndromic cleft lip with or without cleft palate. [provided by RefSeq, Jun 2016]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 29", "basicGeneticEntity": { "synonyms": [ "PARG1", "PTPL1-associated RhoGAP 1 (PARG1)", "PTPL1-associated RhoGAP protein 1", "RP11-255E17.1", "rho GTPase-activating protein 29", "rho-type GTPase-activating protein 29" ], "secondaryIds": [ "RGD:1606326" ], "genomeLocations": [ { "strand": "-", "endPosition": 94314592, "chromosome": "1", "assembly": "GRCh38", "startPosition": 94148988 } ], "primaryId": "HGNC:30207", "crossReferences": [ { "id": "ENSEMBL:ENSG00000137962" }, { "id": "NCBI_Gene:9411" }, { "id": "PANTHER:PTHR15228" }, { "id": "UniProtKB:Q52LW3" }, { "pages": [ "gene/references" ], "id": "RGD:1606326" }, { "pages": [ "gene" ], "id": "HGNC:30207" }, { "id": "RGD:1606326" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP29-AS1", "soTermId": "SO:0001263", "name": "ARHGAP29 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:14400115" ], "genomeLocations": [ { "strand": "+", "endPosition": 94411036, "chromosome": "1", "assembly": "GRCh38", "startPosition": 94246951 } ], "primaryId": "HGNC:54311", "crossReferences": [ { "id": "ENSEMBL:ENSG00000226835" }, { "id": "NCBI_Gene:107985092" }, { "pages": [ "gene/references" ], "id": "RGD:14400115" }, { "pages": [ "gene" ], "id": "HGNC:54311" }, { "id": "RGD:14400115" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP30", "geneSynopsis": "Enables GTPase activator activity. Involved in negative regulation of Rho protein signal transduction. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 30", "basicGeneticEntity": { "synonyms": [ "FLJ00267", "FLJ44128", "RP11-544M22.6", "rho GTPase-activating protein 30", "rho-type GTPase-activating protein 30" ], "secondaryIds": [ "RGD:1604190" ], "genomeLocations": [ { "strand": "-", "endPosition": 161069970, "chromosome": "1", "assembly": "GRCh38", "startPosition": 161046946 } ], "primaryId": "HGNC:27414", "crossReferences": [ { "id": "ENSEMBL:ENSG00000186517" }, { "id": "NCBI_Gene:257106" }, { "id": "PANTHER:PTHR15729" }, { "id": "UniProtKB:Q7Z6I6" }, { "pages": [ "gene/references" ], "id": "RGD:1604190" }, { "pages": [ "gene" ], "id": "HGNC:27414" }, { "id": "RGD:1604190" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP31", "geneSynopsis": "This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 31", "basicGeneticEntity": { "synonyms": [ "AOS", "AOS1", "CDGAP", "Cdc42 GTPase-activating protein", "KIAA1204", "MGC138368", "MGC138370", "rho GTPase-activating protein 31" ], "secondaryIds": [ "RGD:1606256" ], "genomeLocations": [ { "strand": "+", "endPosition": 119420714, "chromosome": "3", "assembly": "GRCh38", "startPosition": 119294352 } ], "primaryId": "HGNC:29216", "crossReferences": [ { "id": "ENSEMBL:ENSG00000031081" }, { "id": "NCBI_Gene:57514" }, { "id": "PANTHER:PTHR15729" }, { "id": "UniProtKB:Q2M1Z3" }, { "pages": [ "gene/references" ], "id": "RGD:1606256" }, { "pages": [ "gene" ], "id": "HGNC:29216" }, { "id": "RGD:1606256" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP31-AS1", "geneSynopsis": "INTERACTS WITH aristolochic acid A; lipopolysaccharide; S-(1,2-dichlorovinyl)-L-cysteine", "soTermId": "SO:0001263", "name": "ARHGAP31 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481080" ], "genomeLocations": [ { "strand": "-", "endPosition": 119322760, "chromosome": "3", "assembly": "GRCh38", "startPosition": 119313313 } ], "primaryId": "HGNC:41235", "crossReferences": [ { "id": "ENSEMBL:ENSG00000241155" }, { "id": "NCBI_Gene:100874246" }, { "pages": [ "gene/references" ], "id": "RGD:6481080" }, { "pages": [ "gene" ], "id": "HGNC:41235" }, { "id": "RGD:6481080" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP32", "geneSynopsis": "RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 32", "basicGeneticEntity": { "synonyms": [ "GAB-associated CDC42", "GAB-associated Cdc42/Rac GTPase-activating protein", "GC-GAP", "GRIT", "GTPase regulator interacting with TrkA", "GTPase-activating protein for Cdc42 and Rac1", "KIAA0712", "MGC1892", "PX-RICS", "RICS", "RhoGAP involved in the -catenin-N-cadherin and NMDA receptor signaling", "brain-specific Rho GTP-ase-activating protein", "brain-specific Rho GTPase-activating protein", "p200RhoGAP", "p250GAP", "rac GTPase activating protein", "rho GTPase-activating protein 32", "rho-type GTPase-activating protein 32", "rho/Cdc42/Rac GTPase-activating protein RICS", "rhoGAP involved in the beta-catenin-N-cadherin and NMDA receptor signaling" ], "secondaryIds": [ "RGD:1605412" ], "genomeLocations": [ { "strand": "-", "endPosition": 129279632, "chromosome": "11", "assembly": "GRCh38", "startPosition": 128965060 } ], "primaryId": "HGNC:17399", "crossReferences": [ { "id": "ENSEMBL:ENSG00000134909" }, { "id": "NCBI_Gene:9743" }, { "id": "PANTHER:PTHR15729" }, { "id": "UniProtKB:A7KAX9" }, { "pages": [ "gene/references" ], "id": "RGD:1605412" }, { "pages": [ "gene" ], "id": "HGNC:17399" }, { "id": "RGD:1605412" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP33", "geneSynopsis": "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. Alternative splice variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 33", "basicGeneticEntity": { "synonyms": [ "FLJ39019", "NOMA-GAP", "SNX26", "TCGAP", "neurite outgrowth multiadaptor RhoGAP protein", "rho GTPase-activating protein 33", "rho-type GTPase-activating protein 33", "sorting nexin 26", "sorting nexin-26", "tc10/CDC42 GTPase-activating protein" ], "secondaryIds": [ "RGD:1318751" ], "genomeLocations": [ { "strand": "+", "endPosition": 35788822, "chromosome": "19", "assembly": "GRCh38", "startPosition": 35774532 } ], "primaryId": "HGNC:23085", "crossReferences": [ { "id": "ENSEMBL:ENSG00000004777" }, { "id": "NCBI_Gene:115703" }, { "id": "PANTHER:PTHR15729" }, { "id": "UniProtKB:O14559" }, { "pages": [ "gene/references" ], "id": "RGD:1318751" }, { "pages": [ "gene" ], "id": "HGNC:23085" }, { "id": "RGD:1318751" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP35", "geneSynopsis": "The human glucocorticoid receptor DNA binding factor, which associates with the promoter region of the glucocorticoid receptor gene (hGR gene), is a repressor of glucocorticoid receptor transcription. The amino acid sequence deduced from the cDNA sequences show the presence of three sequence motifs characteristic of a zinc finger and one motif suggestive of a leucine zipper in which 1 cysteine is found instead of all leucines. The GRLF1 enhances the homologous down-regulation of wild-type hGR gene expression. Biochemical analysis suggests that GRLF1 interaction is sequence specific and that transcriptional efficacy of GRLF1 is regulated through its interaction with specific sequence motif. The level of expression is regulated by glucocorticoids. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 35", "basicGeneticEntity": { "synonyms": [ "GRF-1", "GRLF1", "KIAA1722", "MGC10745", "P190-A", "P190A", "glucocorticoid receptor DNA binding factor 1", "glucocorticoid receptor DNA-binding factor 1", "glucocorticoid receptor repression factor 1", "p190ARhoGAP", "p190RhoGAP", "rho GAP p190A", "rho GTPase-activating protein 35" ], "secondaryIds": [ "RGD:1603059" ], "genomeLocations": [ { "strand": "+", "endPosition": 47005077, "chromosome": "19", "assembly": "GRCh38", "startPosition": 46860997 } ], "primaryId": "HGNC:4591", "crossReferences": [ { "id": "ENSEMBL:ENSG00000160007" }, { "id": "NCBI_Gene:2909" }, { "id": "PANTHER:PTHR46005" }, { "id": "UniProtKB:Q9NRY4" }, { "pages": [ "gene/references" ], "id": "RGD:1603059" }, { "pages": [ "gene" ], "id": "HGNC:4591" }, { "id": "RGD:1603059" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP36", "geneSynopsis": "Predicted to enable GTPase activator activity. Predicted to be involved in signal transduction. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 36", "basicGeneticEntity": { "synonyms": [ "FLJ30058", "RP13-102H20.1", "rho GTPase-activating protein 36" ], "secondaryIds": [ "RGD:1603262" ], "genomeLocations": [ { "strand": "+", "endPosition": 131089885, "chromosome": "X", "assembly": "GRCh38", "startPosition": 131058346 } ], "primaryId": "HGNC:26388", "crossReferences": [ { "id": "ENSEMBL:ENSG00000147256" }, { "id": "NCBI_Gene:158763" }, { "id": "PANTHER:PTHR12635" }, { "id": "UniProtKB:Q6ZRI8" }, { "pages": [ "gene/references" ], "id": "RGD:1603262" }, { "pages": [ "gene" ], "id": "HGNC:26388" }, { "id": "RGD:1603262" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP39", "geneSynopsis": "Predicted to enable GTPase activator activity. Involved in postsynapse organization. Is active in glutamatergic synapse. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 39", "basicGeneticEntity": { "synonyms": [ "CrGAP", "KIAA1688", "RhoGAP93B homolog", "Vilse", "crossGAP homolog", "rho GTPase-activating protein 39" ], "secondaryIds": [ "RGD:1606778" ], "genomeLocations": [ { "strand": "-", "endPosition": 144700362, "chromosome": "8", "assembly": "GRCh38", "startPosition": 144529179 } ], "primaryId": "HGNC:29351", "crossReferences": [ { "id": "ENSEMBL:ENSG00000147799" }, { "id": "NCBI_Gene:80728" }, { "id": "PANTHER:PTHR45876" }, { "id": "UniProtKB:Q9C0H5" }, { "pages": [ "gene/references" ], "id": "RGD:1606778" }, { "pages": [ "gene" ], "id": "HGNC:29351" }, { "id": "RGD:1606778" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP4", "geneSynopsis": "This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 4", "basicGeneticEntity": { "synonyms": [ "C1", "KIAA0131", "RGC1", "Rho-GAP hematopoietic protein C1", "RhoGAP4", "SrGAP4", "p115", "rho GTPase-activating protein 4", "rho-type GTPase-activating protein 4" ], "secondaryIds": [ "RGD:1343373" ], "genomeLocations": [ { "strand": "-", "endPosition": 153934999, "chromosome": "X", "assembly": "GRCh38", "startPosition": 153907367 } ], "primaryId": "HGNC:674", "crossReferences": [ { "id": "ENSEMBL:ENSG00000089820" }, { "id": "NCBI_Gene:393" }, { "id": "PANTHER:PTHR14166" }, { "id": "UniProtKB:P98171" }, { "pages": [ "gene/references" ], "id": "RGD:1343373" }, { "pages": [ "gene" ], "id": "HGNC:674" }, { "id": "RGD:1343373" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP40", "geneSynopsis": "Predicted to enable GTPase activator activity. Predicted to be involved in regulation of actin filament polymerization and regulation of small GTPase mediated signal transduction. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 40", "basicGeneticEntity": { "synonyms": [ "C20orf95", "dJ1100H13.4", "rho GTPase-activating protein 18-like", "rho GTPase-activating protein 40", "rho-type GTPase-activating protein 40" ], "secondaryIds": [ "RGD:1343259" ], "genomeLocations": [ { "strand": "+", "endPosition": 38651035, "chromosome": "20", "assembly": "GRCh38", "startPosition": 38601775 } ], "primaryId": "HGNC:16226", "crossReferences": [ { "id": "ENSEMBL:ENSG00000124143" }, { "id": "NCBI_Gene:343578" }, { "id": "PANTHER:PTHR14963" }, { "id": "UniProtKB:Q5TG30" }, { "pages": [ "gene/references" ], "id": "RGD:1343259" }, { "pages": [ "gene" ], "id": "HGNC:16226" }, { "id": "RGD:1343259" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP42", "geneSynopsis": "This gene encodes a Rho GTPase-activating protein (RhoGAP), and member of the GRAF or BAR-PH family of proteins. Expression of this gene is enriched in vascular smooth muscle cells and the encoded protein inhibits RhoA activity to regulate vascular tone and control blood pressure. A mutation in the first intron of this gene modulates its expression and is associated with reduced blood pressure in human patients with borderline hypertension. [provided by RefSeq, Jul 2017]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 42", "basicGeneticEntity": { "synonyms": [ "AD031", "FLJ32810", "GRAF3", "KIAA0621", "MGC138255", "TMEM133", "rho GTPase-activating protein 10-like", "rho GTPase-activating protein 42", "rho-type GTPase-activating protein 42", "transmembrane protein 133" ], "secondaryIds": [ "RGD:3500508" ], "genomeLocations": [ { "strand": "+", "endPosition": 100993941, "chromosome": "11", "assembly": "GRCh38", "startPosition": 100687288 } ], "primaryId": "HGNC:26545", "crossReferences": [ { "id": "ENSEMBL:ENSG00000165895" }, { "id": "NCBI_Gene:143872" }, { "id": "PANTHER:PTHR12552" }, { "id": "UniProtKB:A6NI28" }, { "pages": [ "gene/references" ], "id": "RGD:3500508" }, { "pages": [ "gene" ], "id": "HGNC:26545" }, { "id": "RGD:3500508" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP42-AS1", "soTermId": "SO:0001263", "name": "ARHGAP42 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AP001351.1", "novel transcript, antisense to ARHGAP42" ], "secondaryIds": [ "RGD:18182998" ], "genomeLocations": [ { "strand": "-", "endPosition": 100687968, "chromosome": "11", "assembly": "GRCh38", "startPosition": 100684161 } ], "primaryId": "HGNC:54801", "crossReferences": [ { "id": "ENSEMBL:ENSG00000248027" }, { "id": "NCBI_Gene:100128386" }, { "pages": [ "gene/references" ], "id": "RGD:18182998" }, { "pages": [ "gene" ], "id": "HGNC:54801" }, { "id": "RGD:18182998" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP42P1", "soTermId": "SO:0000336", "name": "ARHGAP42 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "Rho GTPase activating protein 42 pseudogene 1" ], "secondaryIds": [ "RGD:6483750" ], "genomeLocations": [ { "strand": "-", "endPosition": 131331297, "chromosome": "2", "assembly": "GRCh38", "startPosition": 131327876 } ], "primaryId": "HGNC:43940", "crossReferences": [ { "id": "ENSEMBL:ENSG00000227817" }, { "id": "NCBI_Gene:100887075" }, { "pages": [ "gene/references" ], "id": "RGD:6483750" }, { "pages": [ "gene" ], "id": "HGNC:43940" }, { "id": "RGD:6483750" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP42P2", "soTermId": "SO:0000336", "name": "ARHGAP42 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "Rho GTPase activating protein 42 pseudogene 2" ], "secondaryIds": [ "RGD:6768999" ], "genomeLocations": [ { "strand": "+", "endPosition": 130009289, "chromosome": "2", "assembly": "GRCh38", "startPosition": 130006200 } ], "primaryId": "HGNC:43939", "crossReferences": [ { "id": "ENSEMBL:ENSG00000231147" }, { "id": "NCBI_Gene:100130693" }, { "pages": [ "gene/references" ], "id": "RGD:6768999" }, { "pages": [ "gene" ], "id": "HGNC:43939" }, { "id": "RGD:6768999" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP42P3", "geneSynopsis": "INTERACTS WITH nickel sulfate", "soTermId": "SO:0000336", "name": "ARHGAP42 pseudogene 3", "basicGeneticEntity": { "synonyms": [ "OPHN1P1", "Rho GTPase activating protein 42 pseudogene 3" ], "secondaryIds": [ "RGD:1350998" ], "genomeLocations": [ { "strand": "+", "endPosition": 15553838, "chromosome": "22", "assembly": "GRCh38", "startPosition": 15550904 } ], "primaryId": "HGNC:19327", "crossReferences": [ { "id": "ENSEMBL:ENSG00000235759" }, { "id": "NCBI_Gene:266698" }, { "pages": [ "gene/references" ], "id": "RGD:1350998" }, { "pages": [ "gene" ], "id": "HGNC:19327" }, { "id": "RGD:1350998" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP42P4", "soTermId": "SO:0000336", "name": "ARHGAP42 pseudogene 4", "basicGeneticEntity": { "synonyms": [ "Rho GTPase activating protein 42 pseudogene 4" ], "secondaryIds": [ "RGD:6770425" ], "genomeLocations": [ { "strand": "+", "endPosition": 19691396, "chromosome": "14", "assembly": "GRCh38", "startPosition": 19688100 } ], "primaryId": "HGNC:43941", "crossReferences": [ { "id": "ENSEMBL:ENSG00000258080" }, { "id": "NCBI_Gene:254398" }, { "pages": [ "gene/references" ], "id": "RGD:6770425" }, { "pages": [ "gene" ], "id": "HGNC:43941" }, { "id": "RGD:6770425" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP42P5", "soTermId": "SO:0000336", "name": "ARHGAP42 pseudogene 5", "basicGeneticEntity": { "synonyms": [ "Rho GTPase activating protein 42 pseudogene 5" ], "secondaryIds": [ "RGD:6769156" ], "genomeLocations": [ { "strand": "-", "endPosition": 18626968, "chromosome": "14", "assembly": "GRCh38", "startPosition": 18622486 } ], "primaryId": "HGNC:43942", "crossReferences": [ { "id": "ENSEMBL:ENSG00000258233" }, { "id": "NCBI_Gene:100128514" }, { "pages": [ "gene/references" ], "id": "RGD:6769156" }, { "pages": [ "gene" ], "id": "HGNC:43942" }, { "id": "RGD:6769156" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP44", "geneSynopsis": "Enables phospholipid binding activity. Predicted to be involved in negative regulation of Rac protein signal transduction; regulation of actin cytoskeleton organization; and regulation of plasma membrane bounded cell projection organization. Located in leading edge membrane. Implicated in acquired immunodeficiency syndrome and skin melanoma. Biomarker of hepatocellular carcinoma and lung carcinoma. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 44", "basicGeneticEntity": { "synonyms": [ "KIAA0672", "NPC-A-10", "RICH-2", "RICH2", "Rho-type GTPase-activating protein RICH2", "RhoGAP interacting with CIP4 homologs protein 2", "rho GTPase-activating protein 44", "rho GTPase-activating protein RICH2" ], "secondaryIds": [ "RGD:1604841" ], "genomeLocations": [ { "strand": "+", "endPosition": 12991643, "chromosome": "17", "assembly": "GRCh38", "startPosition": 12789498 } ], "primaryId": "HGNC:29096", "crossReferences": [ { "id": "ENSEMBL:ENSG00000006740" }, { "id": "NCBI_Gene:9912" }, { "id": "PANTHER:PTHR14130" }, { "id": "UniProtKB:Q17R89" }, { "pages": [ "gene/references" ], "id": "RGD:1604841" }, { "pages": [ "gene" ], "id": "HGNC:29096" }, { "id": "RGD:1604841" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP44-AS1", "geneSynopsis": "ASSOCIATED WITH prostate cancer", "soTermId": "SO:0001263", "name": "ARHGAP44 and MYOCD antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AC005358.1", "AC005358.2", "LOC100128006", "novel transcript, antisense to MYOCD", "uncharacterized LOC100128006" ], "secondaryIds": [ "RGD:16564088" ], "genomeLocations": [ { "strand": "-", "endPosition": 12790284, "chromosome": "17", "assembly": "GRCh38", "startPosition": 12760134 } ], "primaryId": "HGNC:55326", "crossReferences": [ { "id": "ENSEMBL:ENSG00000265489" }, { "id": "NCBI_Gene:100128006" }, { "pages": [ "gene/references" ], "id": "RGD:16564088" }, { "pages": [ "gene" ], "id": "HGNC:55326" }, { "id": "RGD:16564088" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP45", "geneSynopsis": "Predicted to enable GTPase activator activity. Predicted to be involved in negative regulation of small GTPase mediated signal transduction. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 45", "basicGeneticEntity": { "synonyms": [ "HA-1", "HLA-HA1", "HMHA1", "KIAA0223", "histocompatibility (minor) HA-1", "minor histocompatibility antigen HA-1", "minor histocompatibility protein HA-1", "rho GTPase-activating protein 45" ], "secondaryIds": [ "RGD:1606818" ], "genomeLocations": [ { "strand": "+", "endPosition": 1086642, "chromosome": "19", "assembly": "GRCh38", "startPosition": 1065923 } ], "primaryId": "HGNC:17102", "crossReferences": [ { "id": "ENSEMBL:ENSG00000180448" }, { "id": "NCBI_Gene:23526" }, { "id": "PANTHER:PTHR15228" }, { "id": "UniProtKB:Q92619" }, { "pages": [ "gene/references" ], "id": "RGD:1606818" }, { "pages": [ "gene" ], "id": "HGNC:17102" }, { "id": "RGD:1606818" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP5", "geneSynopsis": "Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 5", "basicGeneticEntity": { "synonyms": [ "GFI2", "RhoGAP5", "growth factor independent 2", "p100 RasGAP-associated p105 protein", "p105 RhoGAP", "p190-B", "p190BRhoGAP", "rho GTPase-activating protein 5", "rho-type GTPase-activating protein 5" ], "secondaryIds": [ "RGD:1318315" ], "genomeLocations": [ { "strand": "+", "endPosition": 32159728, "chromosome": "14", "assembly": "GRCh38", "startPosition": 32075794 } ], "primaryId": "HGNC:675", "crossReferences": [ { "id": "ENSEMBL:ENSG00000100852" }, { "id": "NCBI_Gene:394" }, { "id": "PANTHER:PTHR46005" }, { "id": "UniProtKB:Q13017" }, { "pages": [ "gene/references" ], "id": "RGD:1318315" }, { "pages": [ "gene" ], "id": "HGNC:675" }, { "id": "RGD:1318315" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP5-AS1", "geneSynopsis": "Enables ubiquitin ligase inhibitor activity. Involved in negative regulation of proteasomal ubiquitin-dependent protein catabolic process. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001263", "name": "ARHGAP5 antisense RNA 1 (head to head)", "basicGeneticEntity": { "synonyms": [ "C14orf128", "MGC15504", "RP11-431H16.2" ], "secondaryIds": [ "RGD:1344910" ], "genomeLocations": [ { "strand": "-", "endPosition": 32076861, "chromosome": "14", "assembly": "GRCh38", "startPosition": 32073914 } ], "primaryId": "HGNC:20279", "crossReferences": [ { "id": "ENSEMBL:ENSG00000258655" }, { "id": "NCBI_Gene:84837" }, { "id": "UniProtKB:Q96IT6" }, { "pages": [ "gene/references" ], "id": "RGD:1344910" }, { "pages": [ "gene" ], "id": "HGNC:20279" }, { "id": "RGD:1344910" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP6", "geneSynopsis": "This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 6", "basicGeneticEntity": { "synonyms": [ "RHOGAP6", "RHOGAPX-1", "Rho-type GTPase-activating protein RhoGAPX-1", "rho GTPase-activating protein 6", "rho-type GTPase-activating protein 6" ], "secondaryIds": [ "RGD:1349829" ], "genomeLocations": [ { "strand": "-", "endPosition": 11665920, "chromosome": "X", "assembly": "GRCh38", "startPosition": 11117651 } ], "primaryId": "HGNC:676", "crossReferences": [ { "id": "ENSEMBL:ENSG00000047648" }, { "id": "NCBI_Gene:395" }, { "id": "PANTHER:PTHR12635" }, { "id": "UniProtKB:O43182" }, { "pages": [ "gene/references" ], "id": "RGD:1349829" }, { "pages": [ "gene" ], "id": "HGNC:676" }, { "id": "RGD:1349829" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP8", "geneSynopsis": "This gene encodes a member of the RHOGAP family. GAP (GTPase-activating) family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. GAP proteins alternate between an active (GTP-bound) and inactive (GDP-bound) state based on the GTP:GDP ratio in the cell. This family member is a multidomain protein that functions to promote Erk activation and cell motility. Alternative splicing results in multiple transcript variants. Read-through transcripts from the upstream proline rich 5, renal (PRR5) gene into this gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 8", "basicGeneticEntity": { "synonyms": [ "BCH domain-containing Cdc42GAP-like protein", "BNIP-2 and Cdc42GAP homology domain-containing, proline-rich and Cdc42GAP-like protein subtype-1", "BPGAP1", "FLJ20185", "PP610", "rho GTPase-activating protein 8", "rho-type GTPase-activating protein 8" ], "secondaryIds": [ "RGD:1606315" ], "genomeLocations": [ { "strand": "+", "endPosition": 44862788, "chromosome": "22", "assembly": "GRCh38", "startPosition": 44752547 } ], "primaryId": "HGNC:677", "crossReferences": [ { "id": "ENSEMBL:ENSG00000241484" }, { "id": "NCBI_Gene:23779" }, { "id": "PANTHER:PTHR45808" }, { "id": "UniProtKB:P85298" }, { "pages": [ "gene/references" ], "id": "RGD:1606315" }, { "pages": [ "gene" ], "id": "HGNC:677" }, { "id": "RGD:1606315" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGAP9", "geneSynopsis": "This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "Rho GTPase activating protein 9", "basicGeneticEntity": { "synonyms": [ "10C", "FLJ16525", "MGC1295", "RGL1", "rho GTPase-activating protein 9", "rho-type GTPase-activating protein 9" ], "secondaryIds": [ "RGD:1313314" ], "genomeLocations": [ { "strand": "-", "endPosition": 57488824, "chromosome": "12", "assembly": "GRCh38", "startPosition": 57472262 } ], "primaryId": "HGNC:14130", "crossReferences": [ { "id": "ENSEMBL:ENSG00000123329" }, { "id": "NCBI_Gene:64333" }, { "id": "PANTHER:PTHR23176" }, { "id": "UniProtKB:Q9BRR9" }, { "pages": [ "gene/references" ], "id": "RGD:1313314" }, { "pages": [ "gene" ], "id": "HGNC:14130" }, { "id": "RGD:1313314" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGDIA", "geneSynopsis": "This gene encodes a protein that plays a key role in the regulation of signaling through Rho GTPases. The encoded protein inhibits the disassociation of Rho family members from GDP (guanine diphosphate), thereby maintaining these factors in an inactive state. Activity of this protein is important in a variety of cellular processes, and expression of this gene may be altered in tumors. Mutations in this gene have been found in individuals with nephrotic syndrome, type 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]", "soTermId": "SO:0001217", "name": "Rho GDP dissociation inhibitor alpha", "basicGeneticEntity": { "synonyms": [ "GDIA1", "GDP-dissociation inhibitor, aplysia RAS-related 1", "HEL-S-47e", "MGC117248", "NPHS8", "RHOGDI", "RHOGDI-1", "Rho GDP dissociation inhibitor (GDI) alpha", "epididymis secretory sperm binding protein Li 47e", "rho GDI 1", "rho GDP-dissociation inhibitor 1", "rho-GDI alpha" ], "secondaryIds": [ "RGD:1354371" ], "genomeLocations": [ { "strand": "-", "endPosition": 81871378, "chromosome": "17", "assembly": "GRCh38", "startPosition": 81867719 } ], "primaryId": "HGNC:678", "crossReferences": [ { "id": "ENSEMBL:ENSG00000141522" }, { "id": "NCBI_Gene:396" }, { "id": "PANTHER:PTHR10980" }, { "id": "UniProtKB:P52565" }, { "pages": [ "gene/references" ], "id": "RGD:1354371" }, { "pages": [ "gene" ], "id": "HGNC:678" }, { "id": "RGD:1354371" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGDIB", "geneSynopsis": "Members of the Rho (or ARH) protein family (see MIM 165390) and other Ras-related small GTP-binding proteins (see MIM 179520) are involved in diverse cellular events, including cell signaling, proliferation, cytoskeletal organization, and secretion. The GTP-binding proteins are active only in the GTP-bound state. At least 3 classes of proteins tightly regulate cycling between the GTP-bound and GDP-bound states: GTPase-activating proteins (GAPs), guanine nucleotide-releasing factors (GRFs), and GDP-dissociation inhibitors (GDIs). The GDIs, including ARHGDIB, decrease the rate of GDP dissociation from Ras-like GTPases (summary by Scherle et al., 1993 [PubMed 8356058]).[supplied by OMIM, Dec 2010]", "soTermId": "SO:0001217", "name": "Rho GDP dissociation inhibitor beta", "basicGeneticEntity": { "synonyms": [ "D4", "GDIA2", "GDID4", "LYGDI", "Ly-GDI", "RAP1GN1", "Rho GDI 2", "Rho GDP dissociation inhibitor (GDI) beta", "RhoGDI2", "rho GDP-dissociation inhibitor 2", "rho-GDI beta" ], "secondaryIds": [ "RGD:1313380" ], "genomeLocations": [ { "strand": "-", "endPosition": 14961985, "chromosome": "12", "assembly": "GRCh38", "startPosition": 14942015 } ], "primaryId": "HGNC:679", "crossReferences": [ { "id": "ENSEMBL:ENSG00000111348" }, { "id": "NCBI_Gene:397" }, { "id": "PANTHER:PTHR10980" }, { "id": "UniProtKB:P52566" }, { "pages": [ "gene/references" ], "id": "RGD:1313380" }, { "pages": [ "gene" ], "id": "HGNC:679" }, { "id": "RGD:1313380" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGDIG", "geneSynopsis": "The GDP-dissociation inhibitors (GDIs) play a primary role in modulating the activation of GTPases by inhibiting the exchange of GDP for GTP. See ARHGDIB (MIM 602843).[supplied by OMIM, Nov 2010]", "soTermId": "SO:0001217", "name": "Rho GDP dissociation inhibitor gamma", "basicGeneticEntity": { "synonyms": [ "RHOGDI-3", "Rho GDP dissociation inhibitor (GDI) gamma", "RhoGDI gamma", "rho GDI 3", "rho GDP-dissociation inhibitor 3", "rho-GDI gamma" ], "secondaryIds": [ "RGD:1321818" ], "genomeLocations": [ { "strand": "+", "endPosition": 283010, "chromosome": "16", "assembly": "GRCh38", "startPosition": 280450 } ], "primaryId": "HGNC:680", "crossReferences": [ { "id": "ENSEMBL:ENSG00000242173" }, { "id": "NCBI_Gene:398" }, { "id": "PANTHER:PTHR10980" }, { "id": "UniProtKB:Q99819" }, { "pages": [ "gene/references" ], "id": "RGD:1321818" }, { "pages": [ "gene" ], "id": "HGNC:680" }, { "id": "RGD:1321818" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF1", "geneSynopsis": "Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "Rho guanine nucleotide exchange factor 1", "basicGeneticEntity": { "synonyms": [ "115 kDa guanine nucleotide exchange factor", "115-kD protein", "GEF1", "IMD62", "LBCL2", "LSC", "Lsc homolog", "P115-RHOGEF", "Rho guanine nucleotide exchange factor (GEF) 1", "SUB1.5", "p115RhoGEF" ], "secondaryIds": [ "RGD:30307884" ], "genomeLocations": [ { "strand": "+", "endPosition": 41930150, "chromosome": "19", "assembly": "GRCh38", "startPosition": 41883079 } ], "primaryId": "HGNC:681", "crossReferences": [ { "id": "ENSEMBL:ENSG00000076928" }, { "id": "NCBI_Gene:9138" }, { "id": "PANTHER:PTHR45872" }, { "id": "UniProtKB:Q92888" }, { "pages": [ "gene/references" ], "id": "RGD:30307884" }, { "pages": [ "gene" ], "id": "HGNC:681" }, { "id": "RGD:30307884" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF10", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "Rho guanine nucleotide exchange factor 10", "basicGeneticEntity": { "synonyms": [ "DKFZp686H0726", "GEF10", "MGC131664", "Rho guanine nucleotide exchange factor (GEF) 10", "SNCV" ], "secondaryIds": [ "RGD:1346816" ], "genomeLocations": [ { "strand": "+", "endPosition": 1958642, "chromosome": "8", "assembly": "GRCh38", "startPosition": 1823329 } ], "primaryId": "HGNC:14103", "crossReferences": [ { "id": "ENSEMBL:ENSG00000104728" }, { "id": "ENSEMBL:ENSG00000274726" }, { "id": "NCBI_Gene:9639" }, { "id": "PANTHER:PTHR12877" }, { "id": "UniProtKB:O15013" }, { "pages": [ "gene/references" ], "id": "RGD:1346816" }, { "pages": [ "gene" ], "id": "HGNC:14103" }, { "id": "RGD:1346816" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF10L", "geneSynopsis": "This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2016]", "soTermId": "SO:0001217", "name": "Rho guanine nucleotide exchange factor 10 like", "basicGeneticEntity": { "synonyms": [ "FLJ10521", "GrinchGEF", "KIAA1626", "RP11-473A10.1", "Rho guanine nucleotide exchange factor (GEF) 10-like", "rho guanine nucleotide exchange factor 10-like protein" ], "secondaryIds": [ "RGD:1605662" ], "genomeLocations": [ { "strand": "+", "endPosition": 17697876, "chromosome": "1", "assembly": "GRCh38", "startPosition": 17513435 } ], "primaryId": "HGNC:25540", "crossReferences": [ { "id": "ENSEMBL:ENSG00000074964" }, { "id": "NCBI_Gene:55160" }, { "id": "PANTHER:PTHR12877" }, { "id": "UniProtKB:Q9HCE6" }, { "pages": [ "gene/references" ], "id": "RGD:1605662" }, { "pages": [ "gene" ], "id": "HGNC:25540" }, { "id": "RGD:1605662" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF11", "geneSynopsis": "Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "Rho guanine nucleotide exchange factor 11", "basicGeneticEntity": { "synonyms": [ "DKFZp667F1223", "GTRAP48", "KIAA0380", "PDZ-RHOGEF", "Rho guanine exchange factor (GEF) 11", "Rho guanine nucleotide exchange factor (GEF) 11", "RhoA-specific guanine nucleotide exchange factor", "RhoGEF glutamate transport modulator", "glutamate transporter EAAT4-associated protein 48", "rhogef glutamate transport modulator gtrap48" ], "secondaryIds": [ "RGD:734056" ], "genomeLocations": [ { "strand": "-", "endPosition": 157046903, "chromosome": "1", "assembly": "GRCh38", "startPosition": 156934840 } ], "primaryId": "HGNC:14580", "crossReferences": [ { "id": "ENSEMBL:ENSG00000132694" }, { "id": "NCBI_Gene:9826" }, { "id": "PANTHER:PTHR45872" }, { "id": "UniProtKB:O15085" }, { "pages": [ "gene/references" ], "id": "RGD:734056" }, { "pages": [ "gene" ], "id": "HGNC:14580" }, { "id": "RGD:734056" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF12", "geneSynopsis": "Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]", "soTermId": "SO:0001217", "name": "Rho guanine nucleotide exchange factor 12", "basicGeneticEntity": { "synonyms": [ "DKFZp686O2372", "KIAA0382", "LARG", "PRO2792", "Rho guanine nucleotide exchange factor (GEF) 12", "leukemia-associated RhoGEF", "leukemia-associated rho guanine nucleotide exchange factor" ], "secondaryIds": [ "RGD:1312950" ], "genomeLocations": [ { "strand": "+", "endPosition": 120489937, "chromosome": "11", "assembly": "GRCh38", "startPosition": 120336238 } ], "primaryId": "HGNC:14193", "crossReferences": [ { "id": "ENSEMBL:ENSG00000196914" }, { "id": "NCBI_Gene:23365" }, { "id": "PANTHER:PTHR45872" }, { "id": "UniProtKB:Q9NZN5" }, { "pages": [ "gene/references" ], "id": "RGD:1312950" }, { "pages": [ "gene" ], "id": "HGNC:14193" }, { "id": "RGD:1312950" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF15", "geneSynopsis": "Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for RhoA. It also interacts with ephrin A4 in vascular smooth muscle cells. Two alternatively spliced transcripts variants that encode the same protein have been found for this gene. [provided by RefSeq, Aug 2010]", "soTermId": "SO:0001217", "name": "Rho guanine nucleotide exchange factor 15", "basicGeneticEntity": { "synonyms": [ "ARGEF15", "BSVD5", "E5", "Ephexin5", "FLJ13791", "KIAA0915", "MGC44868", "Rho GEF 15", "Rho guanine exchange factor (GEF) 15", "Rho guanine nucleotide exchange factor (GEF) 15", "Vsm-RhoGEF", "ephexin-5" ], "secondaryIds": [ "RGD:1315873" ], "genomeLocations": [ { "strand": "+", "endPosition": 8323127, "chromosome": "17", "assembly": "GRCh38", "startPosition": 8310241 } ], "primaryId": "HGNC:15590", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198844" }, { "id": "NCBI_Gene:22899" }, { "id": "PANTHER:PTHR12845" }, { "id": "UniProtKB:O94989" }, { "pages": [ "gene/references" ], "id": "RGD:1315873" }, { "pages": [ "gene" ], "id": "HGNC:15590" }, { "id": "RGD:1315873" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF16", "geneSynopsis": "Although the specific function of this protein is not known yet, it is thought to be involved in protein-protein and protein-lipid interactions. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "Rho guanine nucleotide exchange factor 16", "basicGeneticEntity": { "synonyms": [ "GEF16", "NBR", "Rho guanine exchange factor (GEF) 16", "Rho guanine nucleotide exchange factor (GEF) 16", "ephexin-4", "ephexin4" ], "secondaryIds": [ "RGD:1347062" ], "genomeLocations": [ { "strand": "+", "endPosition": 3481127, "chromosome": "1", "assembly": "GRCh38", "startPosition": 3454550 } ], "primaryId": "HGNC:15515", "crossReferences": [ { "id": "ENSEMBL:ENSG00000130762" }, { "id": "NCBI_Gene:27237" }, { "id": "PANTHER:PTHR12845" }, { "id": "UniProtKB:Q5VV41" }, { "pages": [ "gene/references" ], "id": "RGD:1347062" }, { "pages": [ "gene" ], "id": "HGNC:15515" }, { "id": "RGD:1347062" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF17", "geneSynopsis": "Enables guanyl-nucleotide exchange factor activity. Acts upstream of or within actin cytoskeleton organization. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "Rho guanine nucleotide exchange factor 17", "basicGeneticEntity": { "synonyms": [ "164 kDa Rho-specific guanine-nucleotide exchange factor", "FLJ90019", "KIAA0337", "P164RHOGEF", "RHOGEF17", "Rho guanine nucleotide exchange factor (GEF) 17", "Rho-specific guanine-nucleotide exchange factor 164 kDa", "TEM4", "p164-RhoGEF", "tumor endothelial marker 4" ], "secondaryIds": [ "RGD:1320476" ], "genomeLocations": [ { "strand": "+", "endPosition": 73369388, "chromosome": "11", "assembly": "GRCh38", "startPosition": 73308276 } ], "primaryId": "HGNC:21726", "crossReferences": [ { "id": "ENSEMBL:ENSG00000110237" }, { "id": "NCBI_Gene:9828" }, { "id": "PANTHER:PTHR12877" }, { "id": "UniProtKB:Q96PE2" }, { "pages": [ "gene/references" ], "id": "RGD:1320476" }, { "pages": [ "gene" ], "id": "HGNC:21726" }, { "id": "RGD:1320476" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF17-AS1", "geneSynopsis": "INTERACTS WITH sotorasib; trametinib", "soTermId": "SO:0001263", "name": "ARHGEF17 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AP002761.3", "LOC100287837", "uncharacterized LOC100287837" ], "secondaryIds": [ "RGD:16561186" ], "genomeLocations": [ { "strand": "-", "endPosition": 73310413, "chromosome": "11", "assembly": "GRCh38", "startPosition": 73306996 } ], "primaryId": "HGNC:55485", "crossReferences": [ { "id": "ENSEMBL:ENSG00000257038" }, { "id": "NCBI_Gene:100287837" }, { "pages": [ "gene/references" ], "id": "RGD:16561186" }, { "pages": [ "gene" ], "id": "HGNC:55485" }, { "id": "RGD:16561186" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF18", "geneSynopsis": "Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GEF family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2018]", "soTermId": "SO:0001217", "name": "Rho/Rac guanine nucleotide exchange factor 18", "basicGeneticEntity": { "synonyms": [ "114 kDa Rho-specific guanine nucleotide exchange factor", "KIAA0521", "MGC15913", "P114-RHO-GEF", "P114-RhoGEF", "RP78", "Rho-specific guanine nucleotide exchange factor p114", "Rho/Rac guanine nucleotide exchange factor (GEF) 18", "SA-RhoGEF", "p114RhoGEF", "rho guanine nucleotide exchange factor 18", "septin-associated RhoGEF" ], "secondaryIds": [ "RGD:1322915" ], "genomeLocations": [ { "strand": "+", "endPosition": 7479989, "chromosome": "19", "assembly": "GRCh38", "startPosition": 7348937 } ], "primaryId": "HGNC:17090", "crossReferences": [ { "id": "ENSEMBL:ENSG00000104880" }, { "id": "ENSEMBL:ENSG00000268861" }, { "id": "NCBI_Gene:23370" }, { "id": "PANTHER:PTHR47440" }, { "id": "UniProtKB:Q6ZSZ5" }, { "pages": [ "gene/references" ], "id": "RGD:1322915" }, { "pages": [ "gene" ], "id": "HGNC:17090" }, { "id": "RGD:1322915" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF18-AS1", "soTermId": "SO:0001263", "name": "ARHGEF18 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LOC107985284", "uncharacterized LOC107985284" ], "secondaryIds": [ "RGD:39939093" ], "genomeLocations": [ { "strand": "-", "endPosition": 7395059, "chromosome": "19", "assembly": "GRCh38", "startPosition": 7388140 } ], "primaryId": "HGNC:55284", "crossReferences": [ { "id": "NCBI_Gene:118827816" }, { "pages": [ "gene/references" ], "id": "RGD:39939093" }, { "pages": [ "gene" ], "id": "HGNC:55284" }, { "id": "RGD:39939093" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF19", "geneSynopsis": "Guanine nucleotide exchange factors (GEFs) such as ARHGEF19 accelerate the GTPase activity of Rho GTPases (see RHOA, MIM 165390).[supplied by OMIM, Dec 2008]", "soTermId": "SO:0001217", "name": "Rho guanine nucleotide exchange factor 19", "basicGeneticEntity": { "synonyms": [ "FLJ33962", "RP4-733M16.1", "Rho guanine nucleotide exchange factor (GEF) 19", "WGEF", "ephexin-2", "ephexin2", "weakly similar to Rho GEF" ], "secondaryIds": [ "RGD:1312400" ], "genomeLocations": [ { "strand": "-", "endPosition": 16212893, "chromosome": "1", "assembly": "GRCh38", "startPosition": 16197854 } ], "primaryId": "HGNC:26604", "crossReferences": [ { "id": "ENSEMBL:ENSG00000291381" }, { "id": "ENSEMBL:ENSG00000142632" }, { "id": "NCBI_Gene:128272" }, { "id": "PANTHER:PTHR12845" }, { "id": "UniProtKB:Q8IW93" }, { "pages": [ "gene/references" ], "id": "RGD:1312400" }, { "pages": [ "gene" ], "id": "HGNC:26604" }, { "id": "RGD:1312400" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF2", "geneSynopsis": "Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]", "soTermId": "SO:0001217", "name": "Rho/Rac guanine nucleotide exchange factor 2", "basicGeneticEntity": { "synonyms": [ "DKFZp547L106", "DKFZp547P1516", "FLJ45440", "GEF", "GEF-H1", "GEFH1", "KIAA0651", "LFP40", "Lfc", "NEDMHM", "P40", "Rho/Rac guanine nucleotide exchange factor (GEF) 2", "guanine nucleotide exchange factor H1", "microtubule-regulated Rho-GEF", "proliferating cell nucleolar antigen p40", "rho guanine nucleotide exchange factor 2" ], "secondaryIds": [ "RGD:1312226" ], "genomeLocations": [ { "strand": "-", "endPosition": 156007070, "chromosome": "1", "assembly": "GRCh38", "startPosition": 155946851 } ], "primaryId": "HGNC:682", "crossReferences": [ { "id": "ENSEMBL:ENSG00000116584" }, { "id": "NCBI_Gene:9181" }, { "id": "PANTHER:PTHR13944" }, { "id": "UniProtKB:Q92974" }, { "pages": [ "gene/references" ], "id": "RGD:1312226" }, { "pages": [ "gene" ], "id": "HGNC:682" }, { "id": "RGD:1312226" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF2-AS1", "geneSynopsis": "INTERACTS WITH aristolochic acid A; lipopolysaccharide; S-(1,2-dichlorovinyl)-L-cysteine", "soTermId": "SO:0001263", "name": "ARHGEF2 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:14696759" ], "genomeLocations": [ { "strand": "+", "endPosition": 156001787, "chromosome": "1", "assembly": "GRCh38", "startPosition": 155991374 } ], "primaryId": "HGNC:40082", "crossReferences": [ { "id": "ENSEMBL:ENSG00000224276" }, { "id": "NCBI_Gene:107985210" }, { "pages": [ "gene/references" ], "id": "RGD:14696759" }, { "pages": [ "gene" ], "id": "HGNC:40082" }, { "id": "RGD:14696759" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF2-AS2", "geneSynopsis": "INTERACTS WITH okadaic acid", "soTermId": "SO:0001263", "name": "ARHGEF2 antisense RNA 2", "basicGeneticEntity": { "synonyms": [ "AL355388.1", "AL355388.2", "novel transcript, antisense to ARHGEF2" ], "secondaryIds": [ "RGD:38500215" ], "genomeLocations": [ { "strand": "+", "endPosition": 155982988, "chromosome": "1", "assembly": "GRCh38", "startPosition": 155978635 } ], "primaryId": "HGNC:55175", "crossReferences": [ { "id": "ENSEMBL:ENSG00000273002" }, { "id": "NCBI_Gene:107985209" }, { "pages": [ "gene/references" ], "id": "RGD:38500215" }, { "pages": [ "gene" ], "id": "HGNC:55175" }, { "id": "RGD:38500215" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF25", "geneSynopsis": "Rho GTPases alternate between an inactive GDP-bound state and an active GTP-bound state, and GEFs facilitate GDP/GTP exchange. This gene encodes a guanine nucleotide exchange factor (GEF) which interacts with Rho GTPases involved in contraction of vascular smooth muscles, regulation of responses to angiotensin II and lens cell differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]", "soTermId": "SO:0001217", "name": "Rho guanine nucleotide exchange factor 25", "basicGeneticEntity": { "synonyms": [ "GEFT", "RAC/CDC42 exchange factor", "Rho guanine nucleotide exchange factor (GEF) 25", "RhoA/RAC/CDC42 exchange factor", "guanine nucleotide exchange factor GEFT", "p63RhoGEF", "rac/Cdc42/Rho exchange factor GEFT", "rhoA/Rac/Cdc42 guanine nucleotide exchange factor GEFT" ], "secondaryIds": [ "RGD:1601833" ], "genomeLocations": [ { "strand": "+", "endPosition": 57617245, "chromosome": "12", "assembly": "GRCh38", "startPosition": 57610116 } ], "primaryId": "HGNC:30275", "crossReferences": [ { "id": "ENSEMBL:ENSG00000240771" }, { "id": "NCBI_Gene:115557" }, { "id": "PANTHER:PTHR22826" }, { "id": "UniProtKB:Q86VW2" }, { "pages": [ "gene/references" ], "id": "RGD:1601833" }, { "pages": [ "gene" ], "id": "HGNC:30275" }, { "id": "RGD:1601833" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF25-AS1", "soTermId": "SO:0001263", "name": "ARHGEF25 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:616336034" ], "primaryId": "HGNC:41260", "crossReferences": [ { "id": "NCBI_Gene:141369870" }, { "pages": [ "gene/references" ], "id": "RGD:616336034" }, { "pages": [ "gene" ], "id": "HGNC:41260" }, { "id": "RGD:616336034" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF26", "geneSynopsis": "This gene encodes a member of the Rho-guanine nucleotide exchange factor (Rho-GEF) family. These proteins regulate Rho GTPases by catalyzing the exchange of GDP for GTP. The encoded protein specifically activates RhoG and plays a role in the promotion of macropinocytosis. Underexpression of the encoded protein may be a predictive marker of chemoresistant disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]", "soTermId": "SO:0001217", "name": "Rho guanine nucleotide exchange factor 26", "basicGeneticEntity": { "synonyms": [ "CSGEF", "DKFZp434D146", "HMFN1864", "Rho guanine nucleotide exchange factor (GEF) 26", "SGEF", "SH3 domain-containing guanine exchange factor", "Src homology 3 domain-containing guanine nucleotide exchange factor", "testicular tissue protein Li 171" ], "secondaryIds": [ "RGD:1603402" ], "genomeLocations": [ { "strand": "+", "endPosition": 154257827, "chromosome": "3", "assembly": "GRCh38", "startPosition": 154121003 } ], "primaryId": "HGNC:24490", "crossReferences": [ { "id": "ENSEMBL:ENSG00000114790" }, { "id": "ENSEMBL:ENSG00000277101" }, { "id": "NCBI_Gene:26084" }, { "id": "PANTHER:PTHR12845" }, { "id": "UniProtKB:Q96DR7" }, { "pages": [ "gene/references" ], "id": "RGD:1603402" }, { "pages": [ "gene" ], "id": "HGNC:24490" }, { "id": "RGD:1603402" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF26-AS1", "geneSynopsis": "INTERACTS WITH aflatoxin B1; bisphenol A; cisplatin", "soTermId": "SO:0001263", "name": "ARHGEF26 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:5144507" ], "genomeLocations": [ { "strand": "-", "endPosition": 154121347, "chromosome": "3", "assembly": "GRCh38", "startPosition": 154024401 } ], "primaryId": "HGNC:41048", "crossReferences": [ { "id": "ENSEMBL:ENSG00000243069" }, { "id": "NCBI_Gene:100507524" }, { "pages": [ "gene/references" ], "id": "RGD:5144507" }, { "pages": [ "gene" ], "id": "HGNC:41048" }, { "id": "RGD:5144507" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF28", "geneSynopsis": "This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]", "soTermId": "SO:0001217", "name": "Rho guanine nucleotide exchange factor 28", "basicGeneticEntity": { "synonyms": [ "190 kDa guanine nucleotide exchange factor", "RGNEF", "RIP2", "Rho guanine nucleotide exchange factor (GEF) 28", "Rho interacting protein 2", "p190-RhoGEF", "p190RHOGEF", "rho-guanine nucleotide exchange factor" ], "secondaryIds": [ "RGD:6892765" ], "genomeLocations": [ { "strand": "+", "endPosition": 73942391, "chromosome": "5", "assembly": "GRCh38", "startPosition": 73625757 } ], "primaryId": "HGNC:30322", "crossReferences": [ { "id": "ENSEMBL:ENSG00000214944" }, { "id": "NCBI_Gene:64283" }, { "id": "PANTHER:PTHR13944" }, { "id": "UniProtKB:Q8N1W1" }, { "pages": [ "gene/references" ], "id": "RGD:6892765" }, { "pages": [ "gene" ], "id": "HGNC:30322" }, { "id": "RGD:6892765" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF28-AS1", "soTermId": "SO:0001263", "name": "ARHGEF28 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LOC107986423", "uncharacterized LOC107986423" ], "secondaryIds": [ "RGD:38613764" ], "genomeLocations": [ { "strand": "-", "endPosition": 73648248, "chromosome": "5", "assembly": "GRCh38", "startPosition": 73642498 } ], "primaryId": "HGNC:59066", "crossReferences": [ { "id": "NCBI_Gene:107986423" }, { "pages": [ "gene/references" ], "id": "RGD:38613764" }, { "pages": [ "gene" ], "id": "HGNC:59066" }, { "id": "RGD:38613764" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF28-AS2", "soTermId": "SO:0001263", "name": "ARHGEF28 antisense RNA 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:630350481" ], "primaryId": "HGNC:59067", "crossReferences": [ { "id": "NCBI_Gene:144699897" }, { "pages": [ "gene/references" ], "id": "RGD:630350481" }, { "pages": [ "gene" ], "id": "HGNC:59067" }, { "id": "RGD:630350481" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF28-AS3", "soTermId": "SO:0001263", "name": "ARHGEF28 antisense RNA 3", "basicGeneticEntity": { "secondaryIds": [ "RGD:630350451" ], "primaryId": "HGNC:59068", "crossReferences": [ { "id": "NCBI_Gene:144699898" }, { "pages": [ "gene/references" ], "id": "RGD:630350451" }, { "pages": [ "gene" ], "id": "HGNC:59068" }, { "id": "RGD:630350451" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF28P1", "soTermId": "SO:0000336", "name": "ARHGEF28 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:155640823" ], "genomeLocations": [ { "strand": "-", "endPosition": 99326552, "chromosome": "3", "assembly": "GRCh38", "startPosition": 99326377 } ], "primaryId": "HGNC:56460", "crossReferences": [ { "id": "ENSEMBL:ENSG00000240572" }, { "id": "NCBI_Gene:127379713" }, { "pages": [ "gene/references" ], "id": "RGD:155640823" }, { "pages": [ "gene" ], "id": "HGNC:56460" }, { "id": "RGD:155640823" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF3", "geneSynopsis": "Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "Rho guanine nucleotide exchange factor 3", "basicGeneticEntity": { "synonyms": [ "59.8 kDA protein", "DKFZp434F2429", "FLJ98126", "GEF3", "MGC118905", "Rho guanine nucleotide exchange factor (GEF) 3", "RhoGEF protein", "STA3", "XPLN", "exchange factor found in platelets and leukemic and neuronal tissues, XPLN" ], "secondaryIds": [ "RGD:1321712" ], "genomeLocations": [ { "strand": "-", "endPosition": 57079329, "chromosome": "3", "assembly": "GRCh38", "startPosition": 56727418 } ], "primaryId": "HGNC:683", "crossReferences": [ { "id": "ENSEMBL:ENSG00000163947" }, { "id": "NCBI_Gene:50650" }, { "id": "PANTHER:PTHR46006" }, { "id": "UniProtKB:Q9NR81" }, { "pages": [ "gene/references" ], "id": "RGD:1321712" }, { "pages": [ "gene" ], "id": "HGNC:683" }, { "id": "RGD:1321712" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF3-AS1", "geneSynopsis": "INTERACTS WITH tebuconazole", "soTermId": "SO:0001263", "name": "ARHGEF3 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "RP11-51O17.1" ], "secondaryIds": [ "RGD:6481155" ], "genomeLocations": [ { "strand": "+", "endPosition": 56960854, "chromosome": "3", "assembly": "GRCh38", "startPosition": 56940037 } ], "primaryId": "HGNC:40083", "crossReferences": [ { "id": "ENSEMBL:ENSG00000240198" }, { "id": "NCBI_Gene:100874200" }, { "pages": [ "gene/references" ], "id": "RGD:6481155" }, { "pages": [ "gene" ], "id": "HGNC:40083" }, { "id": "RGD:6481155" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF33", "geneSynopsis": "Predicted to enable guanyl-nucleotide exchange factor activity. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "Rho guanine nucleotide exchange factor 33", "basicGeneticEntity": { "synonyms": [ "DH and coiled-coil domain-containing protein ENSP00000381780", "FLJ41381", "Rho guanine nucleotide exchange factor (GEF) 33" ], "secondaryIds": [ "RGD:3516342" ], "genomeLocations": [ { "strand": "+", "endPosition": 38975454, "chromosome": "2", "assembly": "GRCh38", "startPosition": 38889875 } ], "primaryId": "HGNC:37252", "crossReferences": [ { "id": "ENSEMBL:ENSG00000214694" }, { "id": "NCBI_Gene:100271715" }, { "id": "PANTHER:PTHR46944" }, { "id": "UniProtKB:A8MVX0" }, { "pages": [ "gene/references" ], "id": "RGD:3516342" }, { "pages": [ "gene" ], "id": "HGNC:37252" }, { "id": "RGD:3516342" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF34P", "geneSynopsis": "INTERACTS WITH ivermectin; sodium arsenite", "soTermId": "SO:0000336", "name": "Rho guanine nucleotide exchange factor 34, pseudogene", "basicGeneticEntity": { "secondaryIds": [ "RGD:7243794" ], "genomeLocations": [ { "strand": "-", "endPosition": 144286966, "chromosome": "7", "assembly": "GRCh38", "startPosition": 144258996 } ], "primaryId": "HGNC:38086", "crossReferences": [ { "id": "ENSEMBL:ENSG00000204959" }, { "id": "NCBI_Gene:728377" }, { "pages": [ "gene/references" ], "id": "RGD:7243794" }, { "pages": [ "gene" ], "id": "HGNC:38086" }, { "id": "RGD:7243794" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF35", "geneSynopsis": "INTERACTS WITH benzo[a]pyrene; caffeine; silicon dioxide", "soTermId": "SO:0001217", "name": "Rho guanine nucleotide exchange factor 35", "basicGeneticEntity": { "synonyms": [ "ARHGEF5-like", "ARHGEF5L", "CTAGE4", "FLJ43692", "Rho guanine nucleotide exchange factor (GEF) 35", "Rho guanine nucleotide exchange factor (GEF) 5-like", "rho guanine nucleotide exchange factor 5-like protein" ], "secondaryIds": [ "RGD:1604887" ], "genomeLocations": [ { "strand": "-", "endPosition": 144195879, "chromosome": "7", "assembly": "GRCh38", "startPosition": 144182888 } ], "primaryId": "HGNC:33846", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213214" }, { "id": "NCBI_Gene:445328" }, { "id": "UniProtKB:A5YM69" }, { "pages": [ "gene/references" ], "id": "RGD:1604887" }, { "pages": [ "gene" ], "id": "HGNC:33846" }, { "id": "RGD:1604887" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF35-AS1", "soTermId": "SO:0001263", "name": "ARHGEF35 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "DDGC" ], "secondaryIds": [ "RGD:14696755" ], "genomeLocations": [ { "strand": "+", "endPosition": 144299589, "chromosome": "7", "assembly": "GRCh38", "startPosition": 144195321 } ], "primaryId": "HGNC:41292", "crossReferences": [ { "id": "NCBI_Gene:101928605" }, { "pages": [ "gene/references" ], "id": "RGD:14696755" }, { "pages": [ "gene" ], "id": "HGNC:41292" }, { "id": "RGD:14696755" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF37", "geneSynopsis": "Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "Rho guanine nucleotide exchange factor 37", "basicGeneticEntity": { "synonyms": [ "FLJ41603", "Rho guanine nucleotide exchange factor (GEF) 37" ], "secondaryIds": [ "RGD:1602402" ], "genomeLocations": [ { "strand": "+", "endPosition": 149634968, "chromosome": "5", "assembly": "GRCh38", "startPosition": 149551625 } ], "primaryId": "HGNC:34430", "crossReferences": [ { "id": "ENSEMBL:ENSG00000183111" }, { "id": "NCBI_Gene:389337" }, { "id": "PANTHER:PTHR22834" }, { "id": "UniProtKB:A1IGU5" }, { "pages": [ "gene/references" ], "id": "RGD:1602402" }, { "pages": [ "gene" ], "id": "HGNC:34430" }, { "id": "RGD:1602402" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF38", "geneSynopsis": "Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "Rho guanine nucleotide exchange factor 38", "basicGeneticEntity": { "synonyms": [ "FLJ20184", "FLJ43963", "Rho guanine nucleotide exchange factor (GEF) 38" ], "secondaryIds": [ "RGD:1603216" ], "genomeLocations": [ { "strand": "+", "endPosition": 105708093, "chromosome": "4", "assembly": "GRCh38", "startPosition": 105552620 } ], "primaryId": "HGNC:25968", "crossReferences": [ { "id": "ENSEMBL:ENSG00000236699" }, { "id": "NCBI_Gene:54848" }, { "id": "PANTHER:PTHR22834" }, { "id": "UniProtKB:Q9NXL2" }, { "pages": [ "gene/references" ], "id": "RGD:1603216" }, { "pages": [ "gene" ], "id": "HGNC:25968" }, { "id": "RGD:1603216" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF38-DT", "soTermId": "SO:0001263", "name": "ARHGEF38 divergent transcript", "basicGeneticEntity": { "synonyms": [ "LOC105377352", "uncharacterized LOC105377352" ], "secondaryIds": [ "RGD:38640323" ], "genomeLocations": [ { "strand": "-", "endPosition": 105552284, "chromosome": "4", "assembly": "GRCh38", "startPosition": 105534787 } ], "primaryId": "HGNC:58862", "crossReferences": [ { "id": "NCBI_Gene:105377352" }, { "pages": [ "gene/references" ], "id": "RGD:38640323" }, { "pages": [ "gene" ], "id": "HGNC:58862" }, { "id": "RGD:38640323" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF38-IT1", "soTermId": "SO:0001263", "name": "ARHGEF38 intronic transcript 1", "basicGeneticEntity": { "synonyms": [ "AC004066.5" ], "secondaryIds": [ "RGD:6480965" ], "genomeLocations": [ { "strand": "+", "endPosition": 105570238, "chromosome": "4", "assembly": "GRCh38", "startPosition": 105561591 } ], "primaryId": "HGNC:41483", "crossReferences": [ { "id": "ENSEMBL:ENSG00000249885" }, { "id": "NCBI_Gene:100874374" }, { "pages": [ "gene/references" ], "id": "RGD:6480965" }, { "pages": [ "gene" ], "id": "HGNC:41483" }, { "id": "RGD:6480965" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF39", "geneSynopsis": "Predicted to enable guanyl-nucleotide exchange factor activity. Involved in positive regulation of cell migration. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "Rho guanine nucleotide exchange factor 39", "basicGeneticEntity": { "synonyms": [ "C9orf100", "FLJ14642", "MGC44886", "RP11-331F9.7", "Rho guanine nucleotide exchange factor (GEF) 39", "XGEF", "vav-like protein C9orf100" ], "secondaryIds": [ "RGD:1321248" ], "genomeLocations": [ { "strand": "-", "endPosition": 35675866, "chromosome": "9", "assembly": "GRCh38", "startPosition": 35658875 } ], "primaryId": "HGNC:25909", "crossReferences": [ { "id": "ENSEMBL:ENSG00000137135" }, { "id": "NCBI_Gene:84904" }, { "id": "PANTHER:PTHR47056" }, { "id": "UniProtKB:Q8N4T4" }, { "pages": [ "gene/references" ], "id": "RGD:1321248" }, { "pages": [ "gene" ], "id": "HGNC:25909" }, { "id": "RGD:1321248" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF4", "geneSynopsis": "Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The protein encoded by this gene may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jun 2013]", "soTermId": "SO:0001217", "name": "Rho guanine nucleotide exchange factor 4", "basicGeneticEntity": { "synonyms": [ "APC-stimulated guanine nucleotide exchange factor", "APC-stimulated guanine nucleotide exchange factor 1", "ASEF", "ASEF1", "GEF4", "Rho guanine nucleotide exchange factor (GEF) 4", "SMIM39", "STM6" ], "secondaryIds": [ "RGD:1312054" ], "genomeLocations": [ { "strand": "+", "endPosition": 131047263, "chromosome": "2", "assembly": "GRCh38", "startPosition": 130836914 } ], "primaryId": "HGNC:684", "crossReferences": [ { "id": "ENSEMBL:ENSG00000136002" }, { "id": "NCBI_Gene:50649" }, { "id": "PANTHER:PTHR47544" }, { "id": "UniProtKB:Q9NR80" }, { "pages": [ "gene/references" ], "id": "RGD:1312054" }, { "pages": [ "gene" ], "id": "HGNC:684" }, { "id": "RGD:1312054" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF4-AS1", "soTermId": "SO:0001263", "name": "ARHGEF4 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:149735455" ], "genomeLocations": [ { "strand": "-", "endPosition": 130836994, "chromosome": "2", "assembly": "GRCh38", "startPosition": 130830973 } ], "primaryId": "HGNC:55716", "crossReferences": [ { "id": "ENSEMBL:ENSG00000233221" }, { "id": "NCBI_Gene:121853076" }, { "pages": [ "gene/references" ], "id": "RGD:149735455" }, { "pages": [ "gene" ], "id": "HGNC:55716" }, { "id": "RGD:149735455" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF40", "geneSynopsis": "This gene encodes a protein similar to guanosine nucleotide exchange factors for Rho GTPases. The encoded protein contains in its C-terminus a GEF domain involved in exchange activity and a pleckstrin homology domain. Alternatively spliced transcripts that encode different proteins have been described. [provided by RefSeq, Mar 2014]", "soTermId": "SO:0001217", "name": "Rho guanine nucleotide exchange factor 40", "basicGeneticEntity": { "synonyms": [ "FLJ10357", "Rho guanine nucleotide exchange factor (GEF) 40", "SOLO", "sabi", "scambio" ], "secondaryIds": [ "RGD:1603998" ], "genomeLocations": [ { "strand": "+", "endPosition": 21090248, "chromosome": "14", "assembly": "GRCh38", "startPosition": 21061264 } ], "primaryId": "HGNC:25516", "crossReferences": [ { "id": "ENSEMBL:ENSG00000165801" }, { "id": "NCBI_Gene:55701" }, { "id": "PANTHER:PTHR45845" }, { "id": "UniProtKB:Q8TER5" }, { "pages": [ "gene/references" ], "id": "RGD:1603998" }, { "pages": [ "gene" ], "id": "HGNC:25516" }, { "id": "RGD:1603998" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF5", "geneSynopsis": "Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "Rho guanine nucleotide exchange factor 5", "basicGeneticEntity": { "synonyms": [ "DKFZp686N1969", "GEF5", "P60", "Rho guanine nucleotide exchange factor (GEF) 5", "TIM", "TIM1", "ephexin-3", "ephexin3", "guanine nucleotide regulatory protein TIM", "oncogene TIM", "p60 TIM", "transforming immortalized mammary oncogene" ], "secondaryIds": [ "RGD:735723" ], "genomeLocations": [ { "strand": "+", "endPosition": 144380632, "chromosome": "7", "assembly": "GRCh38", "startPosition": 144355288 } ], "primaryId": "HGNC:13209", "crossReferences": [ { "id": "ENSEMBL:ENSG00000050327" }, { "id": "NCBI_Gene:7984" }, { "id": "PANTHER:PTHR12845" }, { "id": "UniProtKB:Q12774" }, { "pages": [ "gene/references" ], "id": "RGD:735723" }, { "pages": [ "gene" ], "id": "HGNC:13209" }, { "id": "RGD:735723" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF6", "geneSynopsis": "Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific cognitive disability. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "Rac/Cdc42 guanine nucleotide exchange factor 6", "basicGeneticEntity": { "synonyms": [ "COOL2", "Cool-2", "KIAA0006", "MRX46", "PAK-interacting exchange factor alpha", "PAK-interacting exchange factor, alpha", "PIXA", "Rac/Cdc42 guanine exchange factor (GEF) 6", "Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6", "alpha-PIX", "alphaPIX", "mental retardation, X-linked 46", "rho guanine nucleotide exchange factor 6" ], "secondaryIds": [ "RGD:1343816" ], "genomeLocations": [ { "strand": "-", "endPosition": 136781688, "chromosome": "X", "assembly": "GRCh38", "startPosition": 136665547 } ], "primaryId": "HGNC:685", "crossReferences": [ { "id": "ENSEMBL:ENSG00000129675" }, { "id": "NCBI_Gene:9459" }, { "id": "PANTHER:PTHR46026" }, { "id": "UniProtKB:Q15052" }, { "pages": [ "gene/references" ], "id": "RGD:1343816" }, { "pages": [ "gene" ], "id": "HGNC:685" }, { "id": "RGD:1343816" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF7", "geneSynopsis": "This gene encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Mar 2016]", "soTermId": "SO:0001217", "name": "Rho guanine nucleotide exchange factor 7", "basicGeneticEntity": { "synonyms": [ "BETA-PIX", "COOL-1", "COOL1", "DKFZp686C12170", "DKFZp761K1021", "KIAA0142", "KIAA0412", "Nbla10314", "P50", "P50BP", "P85", "P85COOL1", "P85SPR", "PAK-interacting exchange factor beta", "PAK3", "PIXB", "Rho guanine nucleotide exchange factor (GEF) 7", "SH3 domain-containing proline-rich protein", "guanine nucleotide exchange factor 7" ], "secondaryIds": [ "RGD:736143" ], "genomeLocations": [ { "strand": "+", "endPosition": 111305737, "chromosome": "13", "assembly": "GRCh38", "startPosition": 111114559 } ], "primaryId": "HGNC:15607", "crossReferences": [ { "id": "ENSEMBL:ENSG00000102606" }, { "id": "NCBI_Gene:8874" }, { "id": "PANTHER:PTHR46026" }, { "id": "UniProtKB:Q14155" }, { "pages": [ "gene/references" ], "id": "RGD:736143" }, { "pages": [ "gene" ], "id": "HGNC:15607" }, { "id": "RGD:736143" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF7-AS1", "soTermId": "SO:0001263", "name": "ARHGEF7 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481181" ], "genomeLocations": [ { "strand": "-", "endPosition": 111148565, "chromosome": "13", "assembly": "GRCh38", "startPosition": 111144305 } ], "primaryId": "HGNC:39816", "crossReferences": [ { "id": "ENSEMBL:ENSG00000227352" }, { "id": "NCBI_Gene:100874226" }, { "pages": [ "gene/references" ], "id": "RGD:6481181" }, { "pages": [ "gene" ], "id": "HGNC:39816" }, { "id": "RGD:6481181" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF7-AS2", "soTermId": "SO:0001263", "name": "ARHGEF7 antisense RNA 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481199" ], "genomeLocations": [ { "strand": "-", "endPosition": 111115805, "chromosome": "13", "assembly": "GRCh38", "startPosition": 111096369 } ], "primaryId": "HGNC:40717", "crossReferences": [ { "id": "ENSEMBL:ENSG00000235875" }, { "id": "NCBI_Gene:100874238" }, { "pages": [ "gene/references" ], "id": "RGD:6481199" }, { "pages": [ "gene" ], "id": "HGNC:40717" }, { "id": "RGD:6481199" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF7-IT1", "geneSynopsis": "INTERACTS WITH methotrexate", "soTermId": "SO:0001263", "name": "ARHGEF7 intronic transcript 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6480964" ], "genomeLocations": [ { "strand": "+", "endPosition": 111144264, "chromosome": "13", "assembly": "GRCh38", "startPosition": 111122652 } ], "primaryId": "HGNC:41408", "crossReferences": [ { "id": "ENSEMBL:ENSG00000233644" }, { "id": "NCBI_Gene:100874371" }, { "pages": [ "gene/references" ], "id": "RGD:6480964" }, { "pages": [ "gene" ], "id": "HGNC:41408" }, { "id": "RGD:6480964" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF9", "geneSynopsis": "The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. This brain-specific protein also acts as an adaptor protein for the recruitment of gephyrin and together these proteins facilitate receceptor recruitement in GABAnergic and glycinergic synapses. Defects in this gene are the cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy, as well as several other types of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]", "soTermId": "SO:0001217", "name": "Cdc42 guanine nucleotide exchange factor 9", "basicGeneticEntity": { "synonyms": [ "Cdc42 guanine nucleotide exchange factor (GEF) 9", "DEE8", "EIEE8", "HPEM-2", "KIAA0424", "PEM-2", "PEM-2 homolog", "PEM2", "collybistin", "hPEM-2 collybistin", "rac/Cdc42 guanine nucleotide exchange factor 9", "rho guanine nucleotide exchange factor 9" ], "secondaryIds": [ "RGD:1348513" ], "genomeLocations": [ { "strand": "-", "endPosition": 63809274, "chromosome": "X", "assembly": "GRCh38", "startPosition": 63634967 } ], "primaryId": "HGNC:14561", "crossReferences": [ { "id": "ENSEMBL:ENSG00000131089" }, { "id": "NCBI_Gene:23229" }, { "id": "PANTHER:PTHR47544" }, { "id": "UniProtKB:O43307" }, { "pages": [ "gene/references" ], "id": "RGD:1348513" }, { "pages": [ "gene" ], "id": "HGNC:14561" }, { "id": "RGD:1348513" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARHGEF9-IT1", "soTermId": "SO:0001263", "name": "ARHGEF9 intronic transcript 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481062" ], "genomeLocations": [ { "strand": "-", "endPosition": 63671502, "chromosome": "X", "assembly": "GRCh38", "startPosition": 63670196 } ], "primaryId": "HGNC:41401", "crossReferences": [ { "id": "ENSEMBL:ENSG00000231729" }, { "id": "NCBI_Gene:100874355" }, { "pages": [ "gene/references" ], "id": "RGD:6481062" }, { "pages": [ "gene" ], "id": "HGNC:41401" }, { "id": "RGD:6481062" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARID1A", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "AT-rich interaction domain 1A", "basicGeneticEntity": { "synonyms": [ "ARID domain-containing protein 1A", "AT rich interactive domain 1A (SWI-like)", "AT-rich interactive domain-containing protein 1A", "B120", "BAF250", "BAF250a", "BM029", "BRG1-associated factor 250", "BRG1-associated factor 250a", "C1orf4", "CSS2", "ELD", "MRD14", "OSA1", "OSA1 nuclear protein", "P270", "SMARCF1", "SWI-like protein", "SWI/SNF complex protein p270", "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin subfamily F member 1", "brain protein 120", "chromatin remodeling factor p250", "hELD", "hOSA1", "osa homolog 1" ], "secondaryIds": [ "RGD:1321437" ], "genomeLocations": [ { "strand": "+", "endPosition": 26782104, "chromosome": "1", "assembly": "GRCh38", "startPosition": 26693236 } ], "primaryId": "HGNC:11110", "crossReferences": [ { "id": "ENSEMBL:ENSG00000117713" }, { "id": "NCBI_Gene:8289" }, { "id": "PANTHER:PTHR12656" }, { "id": "UniProtKB:O14497" }, { "pages": [ "gene/references" ], "id": "RGD:1321437" }, { "pages": [ "gene" ], "id": "HGNC:11110" }, { "id": "RGD:1321437" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARID1B", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "AT-rich interaction domain 1B", "basicGeneticEntity": { "synonyms": [ "6A3-5", "ARID domain-containing protein 1B", "AT rich interactive domain 1B (SWI1-like)", "AT-rich interactive domain-containing protein 1B", "BAF250b", "BRG1-associated factor 250b", "BRG1-binding protein ELD/OSA1", "BRIGHT", "CSS1", "DAN15", "ELD (eyelid)/OSA protein", "ELD/OSA1", "KIAA1235", "MRD12", "OSA2", "RP11-419L10.1", "SMARCF2", "p250R" ], "secondaryIds": [ "RGD:1316702" ], "genomeLocations": [ { "strand": "+", "endPosition": 157210779, "chromosome": "6", "assembly": "GRCh38", "startPosition": 156776020 } ], "primaryId": "HGNC:18040", "crossReferences": [ { "id": "ENSEMBL:ENSG00000049618" }, { "id": "NCBI_Gene:57492" }, { "id": "PANTHER:PTHR12656" }, { "id": "UniProtKB:Q8NFD5" }, { "pages": [ "gene/references" ], "id": "RGD:1316702" }, { "pages": [ "gene" ], "id": "HGNC:18040" }, { "id": "RGD:1316702" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARID1B-AS1", "soTermId": "SO:0001263", "name": "ARID1B antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:597830048" ], "primaryId": "HGNC:40826", "crossReferences": [ { "id": "NCBI_Gene:139637956" }, { "pages": [ "gene/references" ], "id": "RGD:597830048" }, { "pages": [ "gene" ], "id": "HGNC:40826" }, { "id": "RGD:597830048" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARID2", "geneSynopsis": "This gene encodes a member of the AT-rich interactive domain (ARID)-containing family of DNA-binding proteins. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and chromatin structure modification. This protein functions as a subunit of the polybromo- and BRG1-associated factor or PBAF (SWI/SNF-B) chromatin remodeling complex which facilitates ligand-dependent transcriptional activation by nuclear receptors. Mutations in this gene are associated with hepatocellular carcinomas. A pseudogene of this gene is found on chromosome1. [provided by RefSeq, Dec 2016]", "soTermId": "SO:0001217", "name": "AT-rich interaction domain 2", "basicGeneticEntity": { "synonyms": [ "ARID domain-containing protein 2", "AT rich interactive domain 2 (ARID, RFX-like)", "AT-rich interactive domain-containing protein 2", "BAF200", "BRG1-associated factor 200", "CSS6", "DKFZp686G052", "DKFZp779P0222", "FLJ30619", "KIAA1557", "SMARCF3", "p200", "zinc finger protein with activation potential", "zipzap", "zipzap/p200" ], "secondaryIds": [ "RGD:1322383" ], "genomeLocations": [ { "strand": "+", "endPosition": 45908040, "chromosome": "12", "assembly": "GRCh38", "startPosition": 45728910 } ], "primaryId": "HGNC:18037", "crossReferences": [ { "id": "ENSEMBL:ENSG00000189079" }, { "id": "NCBI_Gene:196528" }, { "id": "PANTHER:PTHR22970" }, { "id": "UniProtKB:Q68CP9" }, { "pages": [ "gene/references" ], "id": "RGD:1322383" }, { "pages": [ "gene" ], "id": "HGNC:18037" }, { "id": "RGD:1322383" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARID3A", "geneSynopsis": "This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA binding proteins. It was found by homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation, and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "AT-rich interaction domain 3A", "basicGeneticEntity": { "synonyms": [ "ARID domain-containing 3A", "ARID domain-containing protein 3A", "AT rich interactive domain 3A (BRIGHT-like)", "AT-rich interactive domain-containing protein 3A", "B-cell regulator of IgH transcription", "BRIGHT", "DRIL1", "DRIL3", "E2F-binding protein 1", "E2FBP1", "at rich interactive domain 3a (bright- like)", "dead ringer-like 1", "dead ringer-like protein 1" ], "secondaryIds": [ "RGD:1313245" ], "genomeLocations": [ { "strand": "+", "endPosition": 975939, "chromosome": "19", "assembly": "GRCh38", "startPosition": 924528 } ], "primaryId": "HGNC:3031", "crossReferences": [ { "id": "ENSEMBL:ENSG00000116017" }, { "id": "NCBI_Gene:1820" }, { "id": "PANTHER:PTHR15348" }, { "id": "UniProtKB:Q99856" }, { "pages": [ "gene/references" ], "id": "RGD:1313245" }, { "pages": [ "gene" ], "id": "HGNC:3031" }, { "id": "RGD:1313245" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARID3B", "geneSynopsis": "This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA-binding proteins. The encoded protein is homologous with two proteins that bind to the retinoblastoma gene product, and also with the mouse Bright and Drosophila dead ringer proteins. A pseudogene on chromosome 1p31 exists for this gene. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "AT-rich interaction domain 3B", "basicGeneticEntity": { "synonyms": [ "ARID domain-containing protein 3B", "AT rich interactive domain 3B (BRIGHT- like)", "AT rich interactive domain 3B (BRIGHT-like)", "AT-rich interactive domain-containing protein 3B", "BDP", "DRIL2", "bright and dead ringer protein", "bright-like protein" ], "secondaryIds": [ "RGD:1314897" ], "genomeLocations": [ { "strand": "+", "endPosition": 74598131, "chromosome": "15", "assembly": "GRCh38", "startPosition": 74541188 } ], "primaryId": "HGNC:14350", "crossReferences": [ { "id": "ENSEMBL:ENSG00000179361" }, { "id": "NCBI_Gene:10620" }, { "id": "PANTHER:PTHR15348" }, { "id": "UniProtKB:Q8IVW6" }, { "pages": [ "gene/references" ], "id": "RGD:1314897" }, { "pages": [ "gene" ], "id": "HGNC:14350" }, { "id": "RGD:1314897" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARID3BP1", "soTermId": "SO:0000336", "name": "ARID3B pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AL138799.1", "dead ringer (Drosophila)-like 2 (bright and dead ringer) (DRIL2) pseudogene" ], "secondaryIds": [ "RGD:14995373" ], "genomeLocations": [ { "strand": "+", "endPosition": 81505741, "chromosome": "1", "assembly": "GRCh38", "startPosition": 81501585 } ], "primaryId": "HGNC:54553", "crossReferences": [ { "id": "ENSEMBL:ENSG00000227288" }, { "id": "NCBI_Gene:646555" }, { "pages": [ "gene/references" ], "id": "RGD:14995373" }, { "pages": [ "gene" ], "id": "HGNC:54553" }, { "id": "RGD:14995373" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARID3C", "geneSynopsis": "This gene is a member of the ARID (AT-rich interaction domain) family of proteins. The ARID domain is a helix-turn-helix motif-based DNA-binding domain. ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "AT-rich interaction domain 3C", "basicGeneticEntity": { "synonyms": [ "ARID domain-containing protein 3C", "AT rich interactive domain 3C (BRIGHT-like)", "AT-rich interactive domain-containing protein 3C", "Brightlike", "at rich interactive domain 3c (bright- like)" ], "secondaryIds": [ "RGD:1342507" ], "genomeLocations": [ { "strand": "-", "endPosition": 34633011, "chromosome": "9", "assembly": "GRCh38", "startPosition": 34621049 } ], "primaryId": "HGNC:21209", "crossReferences": [ { "id": "ENSEMBL:ENSG00000205143" }, { "id": "NCBI_Gene:138715" }, { "id": "PANTHER:PTHR15348" }, { "id": "UniProtKB:A6NKF2" }, { "pages": [ "gene/references" ], "id": "RGD:1342507" }, { "pages": [ "gene" ], "id": "HGNC:21209" }, { "id": "RGD:1342507" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARID4A", "geneSynopsis": "The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "AT-rich interaction domain 4A", "basicGeneticEntity": { "synonyms": [ "ARID domain-containing protein 4A", "AT rich interactive domain 4A (RBP1-like)", "AT-rich interactive domain-containing protein 4A", "RBBP-1", "RBBP1", "RBP-1", "RBP1", "retinoblastoma binding protein 1", "retinoblastoma-binding protein 1" ], "secondaryIds": [ "RGD:1316636" ], "genomeLocations": [ { "strand": "+", "endPosition": 58373887, "chromosome": "14", "assembly": "GRCh38", "startPosition": 58298504 } ], "primaryId": "HGNC:9885", "crossReferences": [ { "id": "ENSEMBL:ENSG00000032219" }, { "id": "NCBI_Gene:5926" }, { "id": "PANTHER:PTHR13964" }, { "id": "UniProtKB:P29374" }, { "pages": [ "gene/references" ], "id": "RGD:1316636" }, { "pages": [ "gene" ], "id": "HGNC:9885" }, { "id": "RGD:1316636" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARID4B", "geneSynopsis": "This gene encodes a protein with sequence similarity to retinoblastoma-binding protein-1. The encoded protein is a subunit of the histone deacetylase-dependant SIN3A transcriptional corepressor complex, which functions in diverse cellular processes including proliferation, differentiation, apoptosis, oncogenesis, and cell fate determination. The gene product is recognized by IgG antibody isolated from a breast cancer patient and appears to be a molecular marker associated with a broad range of human malignancies. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "AT-rich interaction domain 4B", "basicGeneticEntity": { "synonyms": [ "180 kDa Sin3-associated polypeptide", "ARID domain-containing protein 4B", "AT rich interactive domain 4B (RBP1-like)", "AT-rich interactive domain-containing protein 4B", "BCAA", "BRCAA1", "DKFZp313M2420", "MGC163290", "RBBP1L1", "RBP1-like protein", "RBP1L1", "Rb-binding protein homolog", "SAP180", "SIN3A-associated protein 180", "breast cancer-associated antigen 1", "breast cancer-associated antigen BRCAA1", "breast carcinoma-associated antigen", "histone deacetylase complex subunit SAP180", "retinoblastoma binding protein 1-like 1", "retinoblastoma-binding protein 1-like 1", "sin3-associated polypeptide p180" ], "secondaryIds": [ "RGD:1604359" ], "genomeLocations": [ { "strand": "-", "endPosition": 235328219, "chromosome": "1", "assembly": "GRCh38", "startPosition": 235131634 } ], "primaryId": "HGNC:15550", "crossReferences": [ { "id": "ENSEMBL:ENSG00000054267" }, { "id": "NCBI_Gene:51742" }, { "id": "PANTHER:PTHR13964" }, { "id": "UniProtKB:Q4LE39" }, { "pages": [ "gene/references" ], "id": "RGD:1604359" }, { "pages": [ "gene" ], "id": "HGNC:15550" }, { "id": "RGD:1604359" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARID5A", "geneSynopsis": "Members of the ARID protein family, including ARID5A, have diverse functions but all appear to play important roles in development, tissue-specific gene expression, and regulation of cell growth (Patsialou et al., 2005 [PubMed 15640446]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "AT-rich interaction domain 5A", "basicGeneticEntity": { "synonyms": [ "ARID domain-containing protein 5A", "AT rich interactive domain 5A (MRF1-like)", "AT-rich interactive domain-containing protein 5A", "MRF-1", "MRF1", "RFVG5814", "RP11-363D14", "modulator recognition factor 1", "modulator recognition factor I" ], "secondaryIds": [ "RGD:1322287" ], "genomeLocations": [ { "strand": "+", "endPosition": 96552638, "chromosome": "2", "assembly": "GRCh38", "startPosition": 96536717 } ], "primaryId": "HGNC:17361", "crossReferences": [ { "id": "ENSEMBL:ENSG00000196843" }, { "id": "NCBI_Gene:10865" }, { "id": "PANTHER:PTHR13964" }, { "id": "UniProtKB:Q03989" }, { "pages": [ "gene/references" ], "id": "RGD:1322287" }, { "pages": [ "gene" ], "id": "HGNC:17361" }, { "id": "RGD:1322287" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARID5B", "geneSynopsis": "This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]", "soTermId": "SO:0001217", "name": "AT-rich interaction domain 5B", "basicGeneticEntity": { "synonyms": [ "ARID domain-containing protein 5B", "AT rich interactive domain 5B (MRF1-like)", "AT-rich interactive domain 5B (MRF1-like)", "AT-rich interactive domain-containing protein 5B", "DESRT", "FLJ21150", "FLJ41888", "MRF-2", "MRF1-like protein", "MRF2", "RP11-341A19.1", "modulator recognition factor 2 (MRF2)" ], "secondaryIds": [ "RGD:1323345" ], "genomeLocations": [ { "strand": "+", "endPosition": 62096944, "chromosome": "10", "assembly": "GRCh38", "startPosition": 61901684 } ], "primaryId": "HGNC:17362", "crossReferences": [ { "id": "ENSEMBL:ENSG00000150347" }, { "id": "NCBI_Gene:84159" }, { "id": "PANTHER:PTHR13964" }, { "id": "UniProtKB:Q14865" }, { "pages": [ "gene/references" ], "id": "RGD:1323345" }, { "pages": [ "gene" ], "id": "HGNC:17362" }, { "id": "RGD:1323345" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARIH1", "geneSynopsis": "Enables enzyme binding activity; ubiquitin-protein transferase activity; and zinc ion binding activity. Involved in protein ubiquitination. Located in several cellular components, including Lewy body; cullin-RING ubiquitin ligase complex; and nuclear body. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ariadne RBR E3 ubiquitin protein ligase 1", "basicGeneticEntity": { "synonyms": [ "ARI", "ARI-1", "DKFZp686O13120", "E3 ubiquitin-protein ligase ARIH1", "FLJ20329", "FLJ93118", "H7-AP2", "HARI", "HHARI", "MOP-6", "UBCH7BP", "ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1", "ariadne, Drosophila, homolog of", "monocyte protein 6", "protein ariadne-1 homolog", "ubcH7-binding protein", "ubcM4-interacting protein", "ubiquitin-conjugating enzyme E2-binding protein 1" ], "secondaryIds": [ "RGD:1317726" ], "genomeLocations": [ { "strand": "+", "endPosition": 72602987, "chromosome": "15", "assembly": "GRCh38", "startPosition": 72474308 } ], "primaryId": "HGNC:689", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166233" }, { "id": "NCBI_Gene:25820" }, { "id": "PANTHER:PTHR11685" }, { "id": "UniProtKB:Q9Y4X5" }, { "pages": [ "gene/references" ], "id": "RGD:1317726" }, { "pages": [ "gene" ], "id": "HGNC:689" }, { "id": "RGD:1317726" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARIH2", "geneSynopsis": "The protein encoded by this gene is an E3 ubiquitin-protein ligase that polyubiquitinates some proteins, tagging them for degradation. The encoded protein upregulates p53 in some cancer cells and may inhibit myelopoiesis. Several transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been determined yet. [provided by RefSeq, Nov 2015]", "soTermId": "SO:0001217", "name": "ariadne RBR E3 ubiquitin protein ligase 2", "basicGeneticEntity": { "synonyms": [ "ARI-2", "ARI2", "E3 ubiquitin-protein ligase ARIH2", "FLJ10938", "FLJ33921", "RING-type E3 ubiquitin transferase ARIH2", "TRIAD1", "all-trans retinoic acid inducible RING finger", "ariadne homolog 2", "protein ariadne-2 homolog" ], "secondaryIds": [ "RGD:1314113" ], "genomeLocations": [ { "strand": "+", "endPosition": 48986382, "chromosome": "3", "assembly": "GRCh38", "startPosition": 48918821 } ], "primaryId": "HGNC:690", "crossReferences": [ { "id": "ENSEMBL:ENSG00000177479" }, { "id": "NCBI_Gene:10425" }, { "id": "PANTHER:PTHR11685" }, { "id": "UniProtKB:O95376" }, { "pages": [ "gene/references" ], "id": "RGD:1314113" }, { "pages": [ "gene" ], "id": "HGNC:690" }, { "id": "RGD:1314113" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARIH2OS", "geneSynopsis": "Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001263", "name": "ARIH2 opposite strand lncRNA", "basicGeneticEntity": { "synonyms": [ "C3orf71", "ariadne RBR E3 ubiquitin protein ligase 2 opposite strand", "ariadne homolog 2 opposite strand", "ariadne-2 homolog opposite strand protein", "hypothetical protein LOC646450", "uncharacterized protein ARIH2OS", "uncharacterized protein C3orf71" ], "secondaryIds": [ "RGD:2298738" ], "genomeLocations": [ { "strand": "-", "endPosition": 48919385, "chromosome": "3", "assembly": "GRCh38", "startPosition": 48917788 } ], "primaryId": "HGNC:34425", "crossReferences": [ { "id": "ENSEMBL:ENSG00000221883" }, { "id": "NCBI_Gene:646450" }, { "id": "UniProtKB:Q8N7S6" }, { "pages": [ "gene/references" ], "id": "RGD:2298738" }, { "pages": [ "gene" ], "id": "HGNC:34425" }, { "id": "RGD:2298738" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARIH2P1", "soTermId": "SO:0000336", "name": "ariadne RBR E3 ubiquitin protein ligase 2 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ARIH2P" ], "secondaryIds": [ "RGD:2289744" ], "genomeLocations": [ { "strand": "+", "endPosition": 28653612, "chromosome": "18", "assembly": "GRCh38", "startPosition": 28651412 } ], "primaryId": "HGNC:31732", "crossReferences": [ { "id": "ENSEMBL:ENSG00000266296" }, { "id": "NCBI_Gene:390844" }, { "pages": [ "gene/references" ], "id": "RGD:2289744" }, { "pages": [ "gene" ], "id": "HGNC:31732" }, { "id": "RGD:2289744" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARK2C", "geneSynopsis": "Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in motor neuron axon guidance and positive regulation of BMP signaling pathway. Predicted to act upstream of or within several processes, including forelimb morphogenesis; nervous system development; and protein polyubiquitination. Predicted to be part of protein-containing complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C", "basicGeneticEntity": { "synonyms": [ "ARKL2", "E3 ubiquitin-protein ligase ARK2C", "E3 ubiquitin-protein ligase RNF165", "FLJ34218", "RNF111L2", "RNF165", "lncAMPC", "lncRNA activated in metastatic PCa", "ring finger protein 165" ], "secondaryIds": [ "RGD:1343595" ], "genomeLocations": [ { "strand": "+", "endPosition": 46463140, "chromosome": "18", "assembly": "GRCh38", "startPosition": 46326809 } ], "primaryId": "HGNC:31696", "crossReferences": [ { "id": "ENSEMBL:ENSG00000141622" }, { "id": "NCBI_Gene:494470" }, { "id": "PANTHER:PTHR22937" }, { "id": "UniProtKB:Q6ZSG1" }, { "pages": [ "gene/references" ], "id": "RGD:1343595" }, { "pages": [ "gene" ], "id": "HGNC:31696" }, { "id": "RGD:1343595" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARK2N", "geneSynopsis": "Enables transcription corepressor activity. Involved in negative regulation of viral life cycle. Is active in chromatin. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "arkadia (RNF111) N-terminal like PKA signaling regulator 2N", "basicGeneticEntity": { "synonyms": [ "ARKL1", "ARKadia (RNF111) N-terminal like PKA signaling regulator protein 2N", "ARKadia-like 1", "ARKadia-like protein 1", "C18orf25", "MGC12909", "MGC87799", "RNF111L1", "chromosome 18 open reading frame 25", "hypothetical protein LOC147339", "uncharacterized protein C18orf25" ], "secondaryIds": [ "RGD:1318467" ], "genomeLocations": [ { "strand": "+", "endPosition": 46266992, "chromosome": "18", "assembly": "GRCh38", "startPosition": 46173508 } ], "primaryId": "HGNC:28172", "crossReferences": [ { "id": "ENSEMBL:ENSG00000152242" }, { "id": "NCBI_Gene:147339" }, { "id": "PANTHER:PTHR16200" }, { "id": "UniProtKB:Q96B23" }, { "pages": [ "gene/references" ], "id": "RGD:1318467" }, { "pages": [ "gene" ], "id": "HGNC:28172" }, { "id": "RGD:1318467" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL1", "geneSynopsis": "The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity, regulate intracellular vesicular membrane trafficking, and stimulate a phospholipase D (PLD) isoform. Although, ARL proteins were initially thought not to activate CT or PLD, later work showed that they are weak stimulators of PLD and CT in a phospholipid dependent manner. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]", "soTermId": "SO:0001217", "name": "ARF like GTPase 1", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 1", "ADP-ribosylation factor like GTPase 1", "ADP-ribosylation factor-like 1", "ADP-ribosylation factor-like protein 1", "ARFL1" ], "secondaryIds": [ "RGD:732961" ], "genomeLocations": [ { "strand": "-", "endPosition": 101407820, "chromosome": "12", "assembly": "GRCh38", "startPosition": 101393116 } ], "primaryId": "HGNC:692", "crossReferences": [ { "id": "ENSEMBL:ENSG00000120805" }, { "id": "NCBI_Gene:400" }, { "id": "PANTHER:PTHR11711" }, { "id": "UniProtKB:P40616" }, { "pages": [ "gene/references" ], "id": "RGD:732961" }, { "pages": [ "gene" ], "id": "HGNC:692" }, { "id": "RGD:732961" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL10", "geneSynopsis": "Predicted to enable GTP binding activity and GTPase activity. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ARF like GTPase 10", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 10", "ADP-ribosylation factor like GTPase 10", "ADP-ribosylation factor-like 10", "ADP-ribosylation factor-like 10A", "ADP-ribosylation factor-like membrane-associated protein", "ADP-ribosylation factor-like protein 10", "ARL10A", "FLJ39249" ], "secondaryIds": [ "RGD:1344087" ], "genomeLocations": [ { "strand": "+", "endPosition": 176415063, "chromosome": "5", "assembly": "GRCh38", "startPosition": 176365487 } ], "primaryId": "HGNC:22042", "crossReferences": [ { "id": "ENSEMBL:ENSG00000175414" }, { "id": "NCBI_Gene:285598" }, { "id": "PANTHER:PTHR47575" }, { "id": "UniProtKB:Q8N8L6" }, { "pages": [ "gene/references" ], "id": "RGD:1344087" }, { "pages": [ "gene" ], "id": "HGNC:22042" }, { "id": "RGD:1344087" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL11", "geneSynopsis": "This gene encodes a tumor suppressor related to the ADP-ribosylation factor (ARF) family of proteins. The encoded protein may play a role in apoptosis in a caspase-dependent manner. Polymorphisms in this gene have been associated with some familial cancers. [provided by RefSeq, May 2010]", "soTermId": "SO:0001217", "name": "ARF like GTPase 11", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 11", "ADP-ribosylation factor like GTPase 11", "ADP-ribosylation factor-like 11", "ADP-ribosylation factor-like protein 11", "ADP-ribosylation factor-like tumor suppressor gene 1", "ADP-ribosylation factor-like tumor suppressor protein 1", "ARLTS1", "FLJ33930", "MGC17429" ], "secondaryIds": [ "RGD:1317649" ], "genomeLocations": [ { "strand": "+", "endPosition": 49634842, "chromosome": "13", "assembly": "GRCh38", "startPosition": 49628464 } ], "primaryId": "HGNC:24046", "crossReferences": [ { "id": "ENSEMBL:ENSG00000152213" }, { "id": "NCBI_Gene:115761" }, { "id": "PANTHER:PTHR11711" }, { "id": "UniProtKB:Q969Q4" }, { "pages": [ "gene/references" ], "id": "RGD:1317649" }, { "pages": [ "gene" ], "id": "HGNC:24046" }, { "id": "RGD:1317649" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL13A", "geneSynopsis": "Predicted to enable GTP binding activity and GTPase activity. Predicted to be involved in non-motile cilium assembly and receptor localization to non-motile cilium. Predicted to be active in ciliary membrane; motile cilium; and non-motile cilium. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ARF like GTPase 13A", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 13A", "ADP-ribosylation factor like GTPase 13A", "ADP-ribosylation factor-like 13", "ADP-ribosylation factor-like 13A", "ADP-ribosylation factor-like protein 13A", "ARL13", "dJ341D10.2" ], "secondaryIds": [ "RGD:1343034" ], "genomeLocations": [ { "strand": "+", "endPosition": 100990831, "chromosome": "X", "assembly": "GRCh38", "startPosition": 100969708 } ], "primaryId": "HGNC:31709", "crossReferences": [ { "id": "ENSEMBL:ENSG00000174225" }, { "id": "NCBI_Gene:392509" }, { "id": "PANTHER:PTHR46090" }, { "id": "UniProtKB:Q5H913" }, { "pages": [ "gene/references" ], "id": "RGD:1343034" }, { "pages": [ "gene" ], "id": "HGNC:31709" }, { "id": "RGD:1343034" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL13B", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ARF like GTPase 13B", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 13B", "ADP-ribosylation factor like GTPase 13B", "ADP-ribosylation factor-like 13B", "ADP-ribosylation factor-like 2-like 1", "ADP-ribosylation factor-like protein 13B", "ARL2-like protein 1", "ARL2L1", "DKFZp686E2075", "DKFZp686L2472", "DKFZp686M2074", "DKFZp761H079", "JBTS8", "MGC120611", "MGC120612" ], "secondaryIds": [ "RGD:1349356" ], "genomeLocations": [ { "strand": "+", "endPosition": 94055678, "chromosome": "3", "assembly": "GRCh38", "startPosition": 93980139 } ], "primaryId": "HGNC:25419", "crossReferences": [ { "id": "ENSEMBL:ENSG00000169379" }, { "id": "NCBI_Gene:200894" }, { "id": "PANTHER:PTHR46090" }, { "id": "UniProtKB:Q3SXY8" }, { "pages": [ "gene/references" ], "id": "RGD:1349356" }, { "pages": [ "gene" ], "id": "HGNC:25419" }, { "id": "RGD:1349356" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL14", "geneSynopsis": "Predicted to enable GTP binding activity. Predicted to be involved in intracellular protein transport and vesicle-mediated transport. Predicted to be located in cytoplasmic vesicle. Predicted to be active in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ARF like GTPase 14", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 14", "ADP-ribosylation factor 7", "ADP-ribosylation factor like GTPase 14", "ADP-ribosylation factor-like 14", "ADP-ribosylation factor-like protein 14", "ARF7", "FLJ22595" ], "secondaryIds": [ "RGD:1349632" ], "genomeLocations": [ { "strand": "+", "endPosition": 160678448, "chromosome": "3", "assembly": "GRCh38", "startPosition": 160677160 } ], "primaryId": "HGNC:22974", "crossReferences": [ { "id": "ENSEMBL:ENSG00000179674" }, { "id": "NCBI_Gene:80117" }, { "id": "PANTHER:PTHR11711" }, { "id": "UniProtKB:Q8N4G2" }, { "pages": [ "gene/references" ], "id": "RGD:1349632" }, { "pages": [ "gene" ], "id": "HGNC:22974" }, { "id": "RGD:1349632" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL14EP", "geneSynopsis": "The protein encoded by this gene is an effector protein. It interacts with ADP-ribosylation factor-like 14 [ARL14, also known as ADP-ribosylation factor 7 (ARF7)], beta-actin (ACTB) and actin-based motor protein myosin 1E (MYO1E). ARL14 is a small GTPase; it controls the export of major histocompatibility class II molecules by connecting to the actin network via this effector protein. [provided by RefSeq, Sep 2014]", "soTermId": "SO:0001217", "name": "ARF like GTPase 14 effector protein", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 14 effector protein", "ARF7 effector protein", "ARF7EP", "ARL14 effector protein", "C11orf46", "FLJ38968", "dJ299F11.1", "hypothetical protein LOC120534", "uncharacterized protein C11orf46" ], "secondaryIds": [ "RGD:1602076" ], "genomeLocations": [ { "strand": "+", "endPosition": 30338458, "chromosome": "11", "assembly": "GRCh38", "startPosition": 30323104 } ], "primaryId": "HGNC:26798", "crossReferences": [ { "id": "ENSEMBL:ENSG00000152219" }, { "id": "NCBI_Gene:120534" }, { "id": "PANTHER:PTHR46536" }, { "id": "UniProtKB:Q8N8R7" }, { "pages": [ "gene/references" ], "id": "RGD:1602076" }, { "pages": [ "gene" ], "id": "HGNC:26798" }, { "id": "RGD:1602076" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL14EP-DT", "soTermId": "SO:0001263", "name": "ARL14EP divergent transcript", "basicGeneticEntity": { "synonyms": [ "LOC105376607", "uncharacterized LOC105376607" ], "secondaryIds": [ "RGD:38612437" ], "genomeLocations": [ { "strand": "-", "endPosition": 30323033, "chromosome": "11", "assembly": "GRCh38", "startPosition": 30042970 } ], "primaryId": "HGNC:55517", "crossReferences": [ { "id": "ENSEMBL:ENSG00000254532" }, { "id": "NCBI_Gene:105376607" }, { "pages": [ "gene/references" ], "id": "RGD:38612437" }, { "pages": [ "gene" ], "id": "HGNC:55517" }, { "id": "RGD:38612437" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL14EPL", "geneSynopsis": "ASSOCIATED WITH Hereditary Neoplastic Syndromes; INTERACTS WITH all-trans-retinoic acid; arsenite(3-); benzo[e]pyrene", "soTermId": "SO:0001217", "name": "ARF like GTPase 14 effector protein like", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 14 effector protein like", "ADP-ribosylation factor like GTPase 14 effector protein like", "ADP-ribosylation factor-like 14 effector protein-like", "ARL14 effector protein-like", "uncharacterized protein LOC644100" ], "secondaryIds": [ "RGD:6771193" ], "genomeLocations": [ { "strand": "+", "endPosition": 116060118, "chromosome": "5", "assembly": "GRCh38", "startPosition": 116032324 } ], "primaryId": "HGNC:44201", "crossReferences": [ { "id": "ENSEMBL:ENSG00000268223" }, { "id": "NCBI_Gene:644100" }, { "id": "PANTHER:PTHR46804" }, { "id": "UniProtKB:P0DKL9" }, { "pages": [ "gene/references" ], "id": "RGD:6771193" }, { "pages": [ "gene" ], "id": "HGNC:44201" }, { "id": "RGD:6771193" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL14EPP1", "soTermId": "SO:0000336", "name": "ARL14EP pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AC007899.1", "chromosome 11 open reading frame 46 (C11orf46) pseudogene" ], "secondaryIds": [ "RGD:15043430" ], "genomeLocations": [ { "strand": "+", "endPosition": 37149304, "chromosome": "2", "assembly": "GRCh38", "startPosition": 37148372 } ], "primaryId": "HGNC:54676", "crossReferences": [ { "id": "ENSEMBL:ENSG00000224891" }, { "id": "NCBI_Gene:107985793" }, { "pages": [ "gene/references" ], "id": "RGD:15043430" }, { "pages": [ "gene" ], "id": "HGNC:54676" }, { "id": "RGD:15043430" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL15", "geneSynopsis": "Predicted to enable GTP binding activity and GTPase activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ARF like GTPase 15", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 15", "ADP-ribosylation factor like GTPase 15", "ADP-ribosylation factor related protein 2", "ADP-ribosylation factor-like 15", "ADP-ribosylation factor-like protein 15", "ADP-ribosylation factor-related protein 2", "ARF-related protein 2", "ARFRP2", "FLJ20051" ], "secondaryIds": [ "RGD:1323226" ], "genomeLocations": [ { "strand": "-", "endPosition": 54310582, "chromosome": "5", "assembly": "GRCh38", "startPosition": 53883942 } ], "primaryId": "HGNC:25945", "crossReferences": [ { "id": "ENSEMBL:ENSG00000185305" }, { "id": "NCBI_Gene:54622" }, { "id": "PANTHER:PTHR46693" }, { "id": "UniProtKB:Q9NXU5" }, { "pages": [ "gene/references" ], "id": "RGD:1323226" }, { "pages": [ "gene" ], "id": "HGNC:25945" }, { "id": "RGD:1323226" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL16", "geneSynopsis": "The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). This protein has been shown to have an inhibitory role in the cellular antiviral response. This gene product interacts with the C-terminal domain of the DEXD/H-box helicase 58 (DDX58) gene product. This interaction was found to suppress the association between the DDX58 gene product and RNA, thereby negatively regulating the activity of the DDX58 gene product. [provided by RefSeq, Jul 2016]", "soTermId": "SO:0001217", "name": "ARF like GTPase 16", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 16", "ADP-ribosylation factor like GTPase 16", "ADP-ribosylation factor-like 16", "ADP-ribosylation factor-like protein 16" ], "secondaryIds": [ "RGD:1601700" ], "genomeLocations": [ { "strand": "-", "endPosition": 81683797, "chromosome": "17", "assembly": "GRCh38", "startPosition": 81681165 } ], "primaryId": "HGNC:27902", "crossReferences": [ { "id": "ENSEMBL:ENSG00000214087" }, { "id": "NCBI_Gene:339231" }, { "id": "PANTHER:PTHR46688" }, { "id": "UniProtKB:Q0P5N6" }, { "pages": [ "gene/references" ], "id": "RGD:1601700" }, { "pages": [ "gene" ], "id": "HGNC:27902" }, { "id": "RGD:1601700" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL17A", "geneSynopsis": "Predicted to enable GTP binding activity. Predicted to be involved in intracellular protein transport and vesicle-mediated transport. Predicted to be located in Golgi apparatus. Predicted to be active in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ARF like GTPase 17A", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 17A", "ADP-ribosylation factor 1 pseudogene 2", "ADP-ribosylation factor 7", "ADP-ribosylation factor like GTPase 17A", "ADP-ribosylation factor-like 17 pseudogene 1", "ADP-ribosylation factor-like 17-like", "ADP-ribosylation factor-like 17A", "ADP-ribosylation factor-like protein 17", "ARF1P2", "ARL17P1", "RP11-927P21.1" ], "secondaryIds": [ "RGD:1602487" ], "genomeLocations": [ { "strand": "-", "endPosition": 46579722, "chromosome": "17", "assembly": "GRCh38", "startPosition": 46499780 }, { "strand": "-", "endPosition": 46361766, "chromosome": "17", "assembly": "GRCh38", "startPosition": 46274184 } ], "primaryId": "HGNC:24096", "crossReferences": [ { "id": "ENSEMBL:ENSG00000275748" }, { "id": "ENSEMBL:ENSG00000185829" }, { "id": "ENSEMBL:ENSG00000228696" }, { "id": "ENSEMBL:ENSG00000276276" }, { "id": "NCBI_Gene:51326" }, { "id": "PANTHER:PTHR11711" }, { "id": "UniProtKB:Q8IVW1" }, { "pages": [ "gene/references" ], "id": "RGD:1602487" }, { "pages": [ "gene" ], "id": "HGNC:24096" }, { "id": "RGD:1602487" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL17B", "geneSynopsis": "Predicted to enable GTP binding activity. Predicted to be involved in intracellular protein transport and vesicle-mediated transport. Predicted to be located in Golgi apparatus. Predicted to be active in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ARF like GTPase 17B", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 17B", "ADP-ribosylation factor 7", "ADP-ribosylation factor like GTPase 17B", "ADP-ribosylation factor-like 17", "ADP-ribosylation factor-like 17B", "ADP-ribosylation factor-like protein 17", "ARL17", "ARL17A", "FLJ76374", "FLJ79506", "MGC45095" ], "secondaryIds": [ "RGD:1605146" ], "genomeLocations": [ { "strand": "-", "endPosition": 46361787, "chromosome": "17", "assembly": "GRCh38", "startPosition": 46274184 }, { "strand": "-", "endPosition": 46579695, "chromosome": "17", "assembly": "GRCh38", "startPosition": 46499780 } ], "primaryId": "HGNC:32387", "crossReferences": [ { "id": "ENSEMBL:ENSG00000275748" }, { "id": "ENSEMBL:ENSG00000228696" }, { "id": "ENSEMBL:ENSG00000185829" }, { "id": "ENSEMBL:ENSG00000276276" }, { "id": "NCBI_Gene:100506084" }, { "id": "PANTHER:PTHR11711" }, { "id": "UniProtKB:I3L3L1" }, { "id": "UniProtKB:Q8IVW1" }, { "pages": [ "gene/references" ], "id": "RGD:1605146" }, { "pages": [ "gene" ], "id": "HGNC:32387" }, { "id": "RGD:1605146" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL2", "geneSynopsis": "This gene encodes a small GTP-binding protein of the RAS superfamily which functions as an ADP-ribosylation factor (ARF). The encoded protein is one of a functionally distinct group of ARF-like genes. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ARF like GTPase 2", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 2", "ADP-ribosylation factor like GTPase 2", "ADP-ribosylation factor-like 2", "ADP-ribosylation factor-like protein 2", "ARFL2", "MRCS1" ], "secondaryIds": [ "RGD:735885" ], "genomeLocations": [ { "strand": "+", "endPosition": 65024328, "chromosome": "11", "assembly": "GRCh38", "startPosition": 65014144 } ], "primaryId": "HGNC:693", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213465" }, { "id": "NCBI_Gene:402" }, { "id": "PANTHER:PTHR45697" }, { "id": "UniProtKB:P36404" }, { "pages": [ "gene/references" ], "id": "RGD:735885" }, { "pages": [ "gene" ], "id": "HGNC:693" }, { "id": "RGD:735885" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL2-SNX15", "geneSynopsis": "This locus represents naturally occurring read-through transcription between the neighboring ADP-ribosylation factor-like 2 (ARL2) and sorting nexin 15 (SNX15) genes on chromosome 11. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is therefore unlikely to produce a protein product. [provided by RefSeq, Dec 2010]", "soTermId": "SO:0001263", "name": "ARL2-SNX15 readthrough (NMD candidate)", "basicGeneticEntity": { "secondaryIds": [ "RGD:7370113" ], "genomeLocations": [ { "strand": "+", "endPosition": 65040572, "chromosome": "11", "assembly": "GRCh38", "startPosition": 65014160 } ], "primaryId": "HGNC:49197", "crossReferences": [ { "id": "ENSEMBL:ENSG00000273003" }, { "id": "NCBI_Gene:100528018" }, { "id": "PANTHER:PTHR45697" }, { "id": "UniProtKB:V9GYD0" }, { "pages": [ "gene/references" ], "id": "RGD:7370113" }, { "pages": [ "gene" ], "id": "HGNC:49197" }, { "id": "RGD:7370113" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL2BP", "geneSynopsis": "ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the ARF family of RAS-related GTPases. The protein encoded by this gene binds to ARL2.GTP with high affinity but does not interact with ARL2.GDP, activated ARF, or RHO proteins. The lack of detectable membrane association of this protein or ARL2 upon activation of ARL2 is suggestive of actions distinct from those of the ARFs. This protein is considered to be the first ARL2-specific effector identified, due to its interaction with ARL2.GTP but lack of ARL2 GTPase-activating protein activity. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ARF like GTPase 2 binding protein", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 2 binding protein", "ADP-ribosylation factor-like protein 2-binding protein", "ARF-like 2-binding protein", "ARL2-binding protein", "Arf-like 2 binding protein BART1", "BART", "BART1", "RP66", "RP82", "binder of ARF2 protein 1", "binder of Arl Two", "binder of Arl2", "retinitis pigmentosa 66 (autosomal recessive)" ], "secondaryIds": [ "RGD:1344137" ], "genomeLocations": [ { "strand": "+", "endPosition": 57253635, "chromosome": "16", "assembly": "GRCh38", "startPosition": 57245259 } ], "primaryId": "HGNC:17146", "crossReferences": [ { "id": "ENSEMBL:ENSG00000102931" }, { "id": "NCBI_Gene:23568" }, { "id": "PANTHER:PTHR15487" }, { "id": "UniProtKB:Q9Y2Y0" }, { "pages": [ "gene/references" ], "id": "RGD:1344137" }, { "pages": [ "gene" ], "id": "HGNC:17146" }, { "id": "RGD:1344137" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL2BPP1", "soTermId": "SO:0000336", "name": "ARF like GTPase 2 binding protein pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 2 binding protein pseudogene 1", "HsT2883" ], "secondaryIds": [ "RGD:1349460" ], "genomeLocations": [ { "strand": "-", "endPosition": 76704254, "chromosome": "18", "assembly": "GRCh38", "startPosition": 76703444 } ], "primaryId": "HGNC:17742", "crossReferences": [ { "id": "ENSEMBL:ENSG00000265934" }, { "id": "NCBI_Gene:399666" }, { "pages": [ "gene/references" ], "id": "RGD:1349460" }, { "pages": [ "gene" ], "id": "HGNC:17742" }, { "id": "RGD:1349460" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL2BPP10", "soTermId": "SO:0000336", "name": "ARF like GTPase 2 binding protein pseudogene 10", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 2 binding protein pseudogene 10" ], "secondaryIds": [ "RGD:6480914" ], "genomeLocations": [ { "strand": "-", "endPosition": 18103649, "chromosome": "22", "assembly": "GRCh38", "startPosition": 18102457 } ], "primaryId": "HGNC:39454", "crossReferences": [ { "id": "ENSEMBL:ENSG00000225225" }, { "id": "NCBI_Gene:100874449" }, { "pages": [ "gene/references" ], "id": "RGD:6480914" }, { "pages": [ "gene" ], "id": "HGNC:39454" }, { "id": "RGD:6480914" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL2BPP2", "soTermId": "SO:0000336", "name": "ARF like GTPase 2 binding protein pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 2 binding protein pseudogene 2", "ARL2BPL", "bcm1040" ], "secondaryIds": [ "RGD:1346532" ], "genomeLocations": [ { "strand": "+", "endPosition": 52764092, "chromosome": "12", "assembly": "GRCh38", "startPosition": 52763357 } ], "primaryId": "HGNC:31036", "crossReferences": [ { "id": "ENSEMBL:ENSG00000258071" }, { "id": "NCBI_Gene:643898" }, { "pages": [ "gene/references" ], "id": "RGD:1346532" }, { "pages": [ "gene" ], "id": "HGNC:31036" }, { "id": "RGD:1346532" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL2BPP3", "soTermId": "SO:0000336", "name": "ARF like GTPase 2 binding protein pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 2 binding protein pseudogene 3" ], "secondaryIds": [ "RGD:4891571" ], "genomeLocations": [ { "strand": "+", "endPosition": 36795248, "chromosome": "13", "assembly": "GRCh38", "startPosition": 36794484 } ], "primaryId": "HGNC:39447", "crossReferences": [ { "id": "ENSEMBL:ENSG00000215486" }, { "id": "NCBI_Gene:646879" }, { "pages": [ "gene/references" ], "id": "RGD:4891571" }, { "pages": [ "gene" ], "id": "HGNC:39447" }, { "id": "RGD:4891571" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL2BPP4", "soTermId": "SO:0000336", "name": "ARF like GTPase 2 binding protein pseudogene 4", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 2 binding protein pseudogene 4" ], "secondaryIds": [ "RGD:4891560" ], "genomeLocations": [ { "strand": "+", "endPosition": 130530094, "chromosome": "5", "assembly": "GRCh38", "startPosition": 130529408 } ], "primaryId": "HGNC:39448", "crossReferences": [ { "id": "ENSEMBL:ENSG00000249312" }, { "id": "NCBI_Gene:100130265" }, { "pages": [ "gene/references" ], "id": "RGD:4891560" }, { "pages": [ "gene" ], "id": "HGNC:39448" }, { "id": "RGD:4891560" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL2BPP5", "soTermId": "SO:0000336", "name": "ARF like GTPase 2 binding protein pseudogene 5", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 2 binding protein pseudogene 5" ], "secondaryIds": [ "RGD:6481008" ], "genomeLocations": [ { "strand": "+", "endPosition": 162762313, "chromosome": "5", "assembly": "GRCh38", "startPosition": 162761833 } ], "primaryId": "HGNC:39449", "crossReferences": [ { "id": "ENSEMBL:ENSG00000254351" }, { "id": "NCBI_Gene:100874420" }, { "pages": [ "gene/references" ], "id": "RGD:6481008" }, { "pages": [ "gene" ], "id": "HGNC:39449" }, { "id": "RGD:6481008" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL2BPP6", "soTermId": "SO:0000336", "name": "ARF like GTPase 2 binding protein pseudogene 6", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 2 binding protein pseudogene 6" ], "secondaryIds": [ "RGD:6481011" ], "genomeLocations": [ { "strand": "+", "endPosition": 175291252, "chromosome": "5", "assembly": "GRCh38", "startPosition": 175290731 } ], "primaryId": "HGNC:39450", "crossReferences": [ { "id": "ENSEMBL:ENSG00000248355" }, { "id": "NCBI_Gene:100874421" }, { "pages": [ "gene/references" ], "id": "RGD:6481011" }, { "pages": [ "gene" ], "id": "HGNC:39450" }, { "id": "RGD:6481011" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL2BPP7", "soTermId": "SO:0000336", "name": "ARF like GTPase 2 binding protein pseudogene 7", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 2 binding protein pseudogene 7" ], "secondaryIds": [ "RGD:4891557" ], "genomeLocations": [ { "strand": "-", "endPosition": 102055826, "chromosome": "9", "assembly": "GRCh38", "startPosition": 102053863 } ], "primaryId": "HGNC:39451", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230418" }, { "id": "NCBI_Gene:100131629" }, { "pages": [ "gene/references" ], "id": "RGD:4891557" }, { "pages": [ "gene" ], "id": "HGNC:39451" }, { "id": "RGD:4891557" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL2BPP8", "soTermId": "SO:0000336", "name": "ARF like GTPase 2 binding protein pseudogene 8", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 2 binding protein pseudogene 8" ], "secondaryIds": [ "RGD:4891556" ], "genomeLocations": [ { "strand": "-", "endPosition": 54754677, "chromosome": "17", "assembly": "GRCh38", "startPosition": 54752875 } ], "primaryId": "HGNC:39452", "crossReferences": [ { "id": "ENSEMBL:ENSG00000263125" }, { "id": "NCBI_Gene:100131784" }, { "pages": [ "gene/references" ], "id": "RGD:4891556" }, { "pages": [ "gene" ], "id": "HGNC:39452" }, { "id": "RGD:4891556" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL2BPP9", "soTermId": "SO:0000336", "name": "ARF like GTPase 2 binding protein pseudogene 9", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 2 binding protein pseudogene 9" ], "secondaryIds": [ "RGD:4891555" ], "genomeLocations": [ { "strand": "-", "endPosition": 82577500, "chromosome": "17", "assembly": "GRCh38", "startPosition": 82576314 } ], "primaryId": "HGNC:39453", "crossReferences": [ { "id": "NCBI_Gene:100421675" }, { "pages": [ "gene/references" ], "id": "RGD:4891555" }, { "pages": [ "gene" ], "id": "HGNC:39453" }, { "id": "RGD:4891555" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL3", "geneSynopsis": "Enables GDP binding activity; GTP binding activity; and microtubule binding activity. Involved in several processes, including cilium assembly; protein localization to cilium; and small GTPase-mediated signal transduction. Acts upstream of or within post-Golgi vesicle-mediated transport. Located in several cellular components, including microtubule cytoskeleton; midbody; and photoreceptor connecting cilium. Implicated in Joubert syndrome and retinitis pigmentosa 83. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ARF like GTPase 3", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 3", "ADP-ribosylation factor like GTPase 3", "ADP-ribosylation factor-like 3", "ADP-ribosylation factor-like protein 3", "ARF-like 3", "ARFL3", "JBTS35", "RP83", "adp-ribosylation-like 3" ], "secondaryIds": [ "RGD:734227" ], "genomeLocations": [ { "strand": "-", "endPosition": 102714437, "chromosome": "10", "assembly": "GRCh38", "startPosition": 102673731 } ], "primaryId": "HGNC:694", "crossReferences": [ { "id": "ENSEMBL:ENSG00000138175" }, { "id": "NCBI_Gene:403" }, { "id": "PANTHER:PTHR45697" }, { "id": "UniProtKB:P36405" }, { "pages": [ "gene/references" ], "id": "RGD:734227" }, { "pages": [ "gene" ], "id": "HGNC:694" }, { "id": "RGD:734227" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL4A", "geneSynopsis": "ADP-ribosylation factor-like 4A is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4A is similar to ARL4C and ARL4D and each has a nuclear localization signal and an unusually high guaninine nucleotide exchange rate. ARL4A is located in both the nuclear and extranuclear cell compartments. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ARF like GTPase 4A", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 4A", "ADP-ribosylation factor like GTPase 4A", "ADP-ribosylation factor-like 4", "ADP-ribosylation factor-like 4A", "ADP-ribosylation factor-like protein 4A", "ARL4" ], "secondaryIds": [ "RGD:1604399" ], "genomeLocations": [ { "strand": "+", "endPosition": 12690958, "chromosome": "7", "assembly": "GRCh38", "startPosition": 12686602 } ], "primaryId": "HGNC:695", "crossReferences": [ { "id": "ENSEMBL:ENSG00000122644" }, { "id": "NCBI_Gene:10124" }, { "id": "PANTHER:PTHR11711" }, { "id": "UniProtKB:P40617" }, { "pages": [ "gene/references" ], "id": "RGD:1604399" }, { "pages": [ "gene" ], "id": "HGNC:695" }, { "id": "RGD:1604399" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL4AP1", "soTermId": "SO:0000336", "name": "ARF like GTPase 4A pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 4A pseudogene 1", "ARL4B", "ARL4P" ], "secondaryIds": [ "RGD:1354501" ], "genomeLocations": [ { "strand": "+", "endPosition": 60685396, "chromosome": "10", "assembly": "GRCh38", "startPosition": 60684218 } ], "primaryId": "HGNC:17741", "crossReferences": [ { "id": "ENSEMBL:ENSG00000122872" }, { "id": "NCBI_Gene:387684" }, { "pages": [ "gene/references" ], "id": "RGD:1354501" }, { "pages": [ "gene" ], "id": "HGNC:17741" }, { "id": "RGD:1354501" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL4AP2", "soTermId": "SO:0000336", "name": "ARF like GTPase 4A pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 4A pseudogene 2", "ARL4P2" ], "secondaryIds": [ "RGD:1605276" ], "genomeLocations": [ { "strand": "+", "endPosition": 40787036, "chromosome": "4", "assembly": "GRCh38", "startPosition": 40785888 } ], "primaryId": "HGNC:32379", "crossReferences": [ { "id": "ENSEMBL:ENSG00000248780" }, { "id": "NCBI_Gene:152709" }, { "pages": [ "gene/references" ], "id": "RGD:1605276" }, { "pages": [ "gene" ], "id": "HGNC:32379" }, { "id": "RGD:1605276" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL4AP3", "soTermId": "SO:0000336", "name": "ARF like GTPase 4A pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 4A pseudogene 3" ], "secondaryIds": [ "RGD:11531434" ], "genomeLocations": [ { "strand": "+", "endPosition": 5208061, "chromosome": "10", "assembly": "GRCh38", "startPosition": 5206702 } ], "primaryId": "HGNC:52372", "crossReferences": [ { "id": "ENSEMBL:ENSG00000228291" }, { "id": "NCBI_Gene:107984161" }, { "pages": [ "gene/references" ], "id": "RGD:11531434" }, { "pages": [ "gene" ], "id": "HGNC:52372" }, { "id": "RGD:11531434" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL4AP4", "soTermId": "SO:0000336", "name": "ARF like GTPase 4A pseudogene 4", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 4A pseudogene 4" ], "secondaryIds": [ "RGD:11531436" ], "genomeLocations": [ { "strand": "-", "endPosition": 23879696, "chromosome": "3", "assembly": "GRCh38", "startPosition": 23878981 } ], "primaryId": "HGNC:52373", "crossReferences": [ { "id": "ENSEMBL:ENSG00000231395" }, { "id": "NCBI_Gene:100420471" }, { "pages": [ "gene/references" ], "id": "RGD:11531436" }, { "pages": [ "gene" ], "id": "HGNC:52373" }, { "id": "RGD:11531436" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL4AP5", "soTermId": "SO:0000336", "name": "ARF like GTPase 4A pseudogene 5", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 4A pseudogene 5", "ADP-ribosylation factor-like protein 4A" ], "secondaryIds": [ "RGD:11531440" ], "genomeLocations": [ { "strand": "+", "endPosition": 150935873, "chromosome": "6", "assembly": "GRCh38", "startPosition": 150934778 } ], "primaryId": "HGNC:52374", "crossReferences": [ { "id": "ENSEMBL:ENSG00000218996" }, { "id": "NCBI_Gene:101928788" }, { "pages": [ "gene/references" ], "id": "RGD:11531440" }, { "pages": [ "gene" ], "id": "HGNC:52374" }, { "id": "RGD:11531440" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL4C", "geneSynopsis": "ADP-ribosylation factor-like 4C is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4C is closely similar to ARL4A and ARL4D and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in cholesterol transport. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ARF like GTPase 4C", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 4C", "ADP ribosylation factor-like protein 7", "ADP-ribosylation factor like GTPase 4C", "ADP-ribosylation factor-like 4C", "ADP-ribosylation factor-like 7", "ADP-ribosylation factor-like protein 4C", "ADP-ribosylation factor-like protein 7", "ADP-ribosylation factor-like protein LAK", "ARL7", "LAK" ], "secondaryIds": [ "RGD:1345856" ], "genomeLocations": [ { "strand": "-", "endPosition": 234497081, "chromosome": "2", "assembly": "GRCh38", "startPosition": 234493041 } ], "primaryId": "HGNC:698", "crossReferences": [ { "id": "ENSEMBL:ENSG00000188042" }, { "id": "NCBI_Gene:10123" }, { "id": "PANTHER:PTHR11711" }, { "id": "UniProtKB:P56559" }, { "pages": [ "gene/references" ], "id": "RGD:1345856" }, { "pages": [ "gene" ], "id": "HGNC:698" }, { "id": "RGD:1345856" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL4D", "geneSynopsis": "ADP-ribosylation factor 4D is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4D is closely similar to ARL4A and ARL4C and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in membrane-associated intracellular trafficking. [provided by RefSeq, Jul 2021]", "soTermId": "SO:0001217", "name": "ARF like GTPase 4D", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 4D", "ADP-ribosylation factor 4-like", "ADP-ribosylation factor like GTPase 4D", "ADP-ribosylation factor-like 4D", "ADP-ribosylation factor-like 6", "ADP-ribosylation factor-like protein 4D", "ADP-ribosylation factor-like protein 4L", "ARF4L", "ARL6" ], "secondaryIds": [ "RGD:1315741" ], "genomeLocations": [ { "strand": "+", "endPosition": 43401137, "chromosome": "17", "assembly": "GRCh38", "startPosition": 43398150 } ], "primaryId": "HGNC:656", "crossReferences": [ { "id": "ENSEMBL:ENSG00000175906" }, { "id": "NCBI_Gene:379" }, { "id": "PANTHER:PTHR11711" }, { "id": "UniProtKB:P49703" }, { "pages": [ "gene/references" ], "id": "RGD:1315741" }, { "pages": [ "gene" ], "id": "HGNC:656" }, { "id": "RGD:1315741" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL5A", "geneSynopsis": "The protein encoded by this gene belongs to the ARF family of GTP-binding proteins. With its distinctive nuclear/nucleolar localization and interaction with HP1alpha, the protein is developmentally regulated and may play a role(s) in nuclear dynamics and/or signaling cascades during embryonic development. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ARF like GTPase 5A", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 5A", "ADP-ribosylation factor like GTPase 5A", "ADP-ribosylation factor-like 5", "ADP-ribosylation factor-like 5A", "ADP-ribosylation factor-like protein 5", "ADP-ribosylation factor-like protein 5A", "ARFLP5", "ARL5" ], "secondaryIds": [ "RGD:1346010" ], "genomeLocations": [ { "strand": "-", "endPosition": 151828531, "chromosome": "2", "assembly": "GRCh38", "startPosition": 151788984 } ], "primaryId": "HGNC:696", "crossReferences": [ { "id": "ENSEMBL:ENSG00000162980" }, { "id": "NCBI_Gene:26225" }, { "id": "PANTHER:PTHR11711" }, { "id": "UniProtKB:Q9Y689" }, { "pages": [ "gene/references" ], "id": "RGD:1346010" }, { "pages": [ "gene" ], "id": "HGNC:696" }, { "id": "RGD:1346010" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL5AP1", "soTermId": "SO:0000336", "name": "ARL5A pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 5A pseudogene 1", "RP11-320L24.1-001" ], "secondaryIds": [ "RGD:6769531" ], "genomeLocations": [ { "strand": "-", "endPosition": 119186961, "chromosome": "X", "assembly": "GRCh38", "startPosition": 119183482 } ], "primaryId": "HGNC:43933", "crossReferences": [ { "id": "ENSEMBL:ENSG00000227864" }, { "id": "NCBI_Gene:641382" }, { "pages": [ "gene/references" ], "id": "RGD:6769531" }, { "pages": [ "gene" ], "id": "HGNC:43933" }, { "id": "RGD:6769531" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL5AP2", "soTermId": "SO:0000336", "name": "ARL5A pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 5A pseudogene 2", "RP11-379D21.2-001" ], "secondaryIds": [ "RGD:6769532" ], "genomeLocations": [ { "strand": "-", "endPosition": 99014193, "chromosome": "10", "assembly": "GRCh38", "startPosition": 99011155 } ], "primaryId": "HGNC:43937", "crossReferences": [ { "id": "ENSEMBL:ENSG00000236818" }, { "id": "NCBI_Gene:641380" }, { "pages": [ "gene/references" ], "id": "RGD:6769532" }, { "pages": [ "gene" ], "id": "HGNC:43937" }, { "id": "RGD:6769532" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL5AP3", "soTermId": "SO:0000336", "name": "ARL5A pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 5A pseudogene 3" ], "secondaryIds": [ "RGD:10413225" ], "genomeLocations": [ { "strand": "-", "endPosition": 68049745, "chromosome": "1", "assembly": "GRCh38", "startPosition": 68049360 } ], "primaryId": "HGNC:43935", "crossReferences": [ { "id": "ENSEMBL:ENSG00000228431" }, { "id": "NCBI_Gene:106480778" }, { "pages": [ "gene/references" ], "id": "RGD:10413225" }, { "pages": [ "gene" ], "id": "HGNC:43935" }, { "id": "RGD:10413225" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL5AP4", "soTermId": "SO:0000336", "name": "ARL5A pseudogene 4", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 5A pseudogene 4" ], "secondaryIds": [ "RGD:6769533" ], "genomeLocations": [ { "strand": "+", "endPosition": 24693187, "chromosome": "22", "assembly": "GRCh38", "startPosition": 24685905 } ], "primaryId": "HGNC:43936", "crossReferences": [ { "id": "ENSEMBL:ENSG00000224806" }, { "id": "NCBI_Gene:641379" }, { "pages": [ "gene/references" ], "id": "RGD:6769533" }, { "pages": [ "gene" ], "id": "HGNC:43936" }, { "id": "RGD:6769533" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL5AP5", "soTermId": "SO:0000336", "name": "ARL5A pseudogene 5", "basicGeneticEntity": { "secondaryIds": [ "RGD:27226856" ], "genomeLocations": [ { "strand": "+", "endPosition": 76031929, "chromosome": "X", "assembly": "GRCh38", "startPosition": 76029553 } ], "primaryId": "HGNC:55001", "crossReferences": [ { "id": "NCBI_Gene:641378" }, { "pages": [ "gene/references" ], "id": "RGD:27226856" }, { "pages": [ "gene" ], "id": "HGNC:55001" }, { "id": "RGD:27226856" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL5B", "geneSynopsis": "ARL5B (ARL8) belongs to a family of proteins that are structurally similar to ADP-ribosylation factors (ARFs; see MIM 103180). ARLs and ARFs are part of the RAS superfamily of regulatory GTPases.[supplied by OMIM, Nov 2010]", "soTermId": "SO:0001217", "name": "ARF like GTPase 5B", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 5B", "ADP-ribosylation factor like GTPase 5B", "ADP-ribosylation factor-like 5B", "ADP-ribosylation factor-like 8", "ADP-ribosylation factor-like protein 5B", "ADP-ribosylation factor-like protein 8", "ADP-ribosylation-like factor 8", "ARL8" ], "secondaryIds": [ "RGD:1313675" ], "genomeLocations": [ { "strand": "+", "endPosition": 18681639, "chromosome": "10", "assembly": "GRCh38", "startPosition": 18659304 } ], "primaryId": "HGNC:23052", "crossReferences": [ { "id": "ENSEMBL:ENSG00000165997" }, { "id": "NCBI_Gene:221079" }, { "id": "PANTHER:PTHR11711" }, { "id": "UniProtKB:Q96KC2" }, { "pages": [ "gene/references" ], "id": "RGD:1313675" }, { "pages": [ "gene" ], "id": "HGNC:23052" }, { "id": "RGD:1313675" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL5C", "geneSynopsis": "Predicted to enable GTP binding activity. Predicted to be involved in intracellular protein transport; protein localization to Golgi membrane; and vesicle-mediated transport. Predicted to be active in trans-Golgi network. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ARF like GTPase 5C", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 5C", "ADP-ribosylation factor like GTPase 5C", "ADP-ribosylation factor-like 12", "ADP-ribosylation factor-like 5C", "ADP-ribosylation factor-like protein 12", "ARL12", "FLJ17748", "putative ADP-ribosylation factor-like protein 5C" ], "secondaryIds": [ "RGD:1316723" ], "genomeLocations": [ { "strand": "-", "endPosition": 39167484, "chromosome": "17", "assembly": "GRCh38", "startPosition": 39156732 } ], "primaryId": "HGNC:31111", "crossReferences": [ { "id": "ENSEMBL:ENSG00000141748" }, { "id": "NCBI_Gene:390790" }, { "id": "PANTHER:PTHR11711" }, { "id": "UniProtKB:A6NH57" }, { "pages": [ "gene/references" ], "id": "RGD:1316723" }, { "pages": [ "gene" ], "id": "HGNC:31111" }, { "id": "RGD:1316723" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL6", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ARF like GTPase 6", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 6", "ADP-ribosylation factor like GTPase 6", "ADP-ribosylation factor-like 6", "ADP-ribosylation factor-like protein 6", "ARL6 interacting reticulophagy regulator 1", "BBS3", "MGC32934", "RP55", "bardet-Biedl syndrome 3 protein" ], "secondaryIds": [ "RGD:1313618" ], "genomeLocations": [ { "strand": "+", "endPosition": 97801242, "chromosome": "3", "assembly": "GRCh38", "startPosition": 97764521 } ], "primaryId": "HGNC:13210", "crossReferences": [ { "id": "ENSEMBL:ENSG00000113966" }, { "id": "NCBI_Gene:84100" }, { "id": "PANTHER:PTHR11711" }, { "id": "UniProtKB:Q9H0F7" }, { "pages": [ "gene/references" ], "id": "RGD:1313618" }, { "pages": [ "gene" ], "id": "HGNC:13210" }, { "id": "RGD:1313618" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL6IP1", "geneSynopsis": "This gene belongs to the ARL6ip family and encodes a transmembrane protein that is predominantly localized to intracytoplasmic membranes. It is highly expressed in early myeloid progenitor cells and thought to be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation. Mutations in this gene are associated with spastic paraplegia 61 (SPG61). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]", "soTermId": "SO:0001217", "name": "ARL6 interacting reticulophagy regulator 1", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 6 interacting protein 1", "ADP-ribosylation factor GTPase 6 interacting protein 1", "ADP-ribosylation factor like GTPase 6 interacting protein 1", "ADP-ribosylation factor-like 6 interacting protein 1", "ADP-ribosylation factor-like protein 6-interacting protein 1", "AIP1", "ARF like GTPase 6 interacting protein 1", "ARL-6-interacting protein 1", "ARL6IP", "ARMER", "KIAA0069", "SPG61", "aip-1", "apoptotic regulator in the membrane of the endoplasmic reticulum" ], "secondaryIds": [ "RGD:1345801" ], "genomeLocations": [ { "strand": "-", "endPosition": 18801572, "chromosome": "16", "assembly": "GRCh38", "startPosition": 18791609 } ], "primaryId": "HGNC:697", "crossReferences": [ { "id": "ENSEMBL:ENSG00000170540" }, { "id": "NCBI_Gene:23204" }, { "id": "PANTHER:PTHR20952" }, { "id": "UniProtKB:Q15041" }, { "pages": [ "gene/references" ], "id": "RGD:1345801" }, { "pages": [ "gene" ], "id": "HGNC:697" }, { "id": "RGD:1345801" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL6IP1P1", "soTermId": "SO:0000336", "name": "ARF like GTPase 6 interacting protein 1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 6 interacting protein 1 pseudogene 1", "ARL6IPP1" ], "secondaryIds": [ "RGD:1342975" ], "genomeLocations": [ { "strand": "-", "endPosition": 21650405, "chromosome": "14", "assembly": "GRCh38", "startPosition": 21647717 } ], "primaryId": "HGNC:23178", "crossReferences": [ { "id": "ENSEMBL:ENSG00000255664" }, { "id": "NCBI_Gene:100288702" }, { "pages": [ "gene/references" ], "id": "RGD:1342975" }, { "pages": [ "gene" ], "id": "HGNC:23178" }, { "id": "RGD:1342975" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL6IP1P2", "geneSynopsis": "INTERACTS WITH cadmium dichloride", "soTermId": "SO:0000336", "name": "ARF like GTPase 6 interacting protein 1 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 6 interacting protein 1 pseudogene 2" ], "secondaryIds": [ "RGD:7205015" ], "genomeLocations": [ { "strand": "+", "endPosition": 36995887, "chromosome": "10", "assembly": "GRCh38", "startPosition": 36994944 } ], "primaryId": "HGNC:44971", "crossReferences": [ { "id": "ENSEMBL:ENSG00000225355" }, { "id": "NCBI_Gene:646348" }, { "pages": [ "gene/references" ], "id": "RGD:7205015" }, { "pages": [ "gene" ], "id": "HGNC:44971" }, { "id": "RGD:7205015" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL6IP1P3", "soTermId": "SO:0000336", "name": "ARF like GTPase 6 interacting protein 1 pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 6 interacting protein 1 pseudogene 3" ], "secondaryIds": [ "RGD:7205183" ], "genomeLocations": [ { "strand": "-", "endPosition": 80654063, "chromosome": "11", "assembly": "GRCh38", "startPosition": 80653125 } ], "primaryId": "HGNC:44972", "crossReferences": [ { "id": "ENSEMBL:ENSG00000255014" }, { "id": "NCBI_Gene:729790" }, { "pages": [ "gene/references" ], "id": "RGD:7205183" }, { "pages": [ "gene" ], "id": "HGNC:44972" }, { "id": "RGD:7205183" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL6IP4", "geneSynopsis": "Enables identical protein binding activity. Predicted to be involved in RNA splicing. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ARF like GTPase 6 interacting protein 4", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 6 interacting protein 4", "ADP-ribosylation factor GTPase 6 interacting protein 4", "ADP-ribosylation factor like GTPase 6 interacting protein 4", "ADP-ribosylation factor-like 6 interacting protein 4", "ADP-ribosylation factor-like protein 6-interacting protein 4", "ADP-ribosylation-like factor 6 interacting protein 4", "ARL-6-interacting protein 4", "HSP-975", "HSVI binding protein", "HSVI-binding protein", "MGC814", "SFRS20", "SR-15", "SR-25", "SRp25", "SRp25 nuclear protein", "SRrp37", "aip-4", "splicing factor SRrp37", "splicing factor, arginine/serine-rich 20", "splicing regulator SRrp38" ], "secondaryIds": [ "RGD:1316976" ], "genomeLocations": [ { "strand": "+", "endPosition": 122983479, "chromosome": "12", "assembly": "GRCh38", "startPosition": 122980045 } ], "primaryId": "HGNC:18076", "crossReferences": [ { "id": "ENSEMBL:ENSG00000182196" }, { "id": "NCBI_Gene:51329" }, { "id": "UniProtKB:Q66PJ3" }, { "pages": [ "gene/references" ], "id": "RGD:1316976" }, { "pages": [ "gene" ], "id": "HGNC:18076" }, { "id": "RGD:1316976" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL6IP5", "geneSynopsis": "Expression of this gene is affected by vitamin A. The encoded protein of this gene may be associated with the cytoskeleton. A similar protein in rats may play a role in the regulation of cell differentiation. The rat protein binds and inhibits the cell membrane glutamate transporter EAAC1. The expression of the rat gene is upregulated by retinoic acid, which results in a specific reduction in EAAC1-mediated glutamate transport. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ARF like GTPase 6 interacting protein 5", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 6 interacting protein 5", "ADP-ribosylation factor GTPase 6 interacting protein 5", "ADP-ribosylation factor like GTPase 6 interacting protein 5", "ADP-ribosylation factor-like 6 interacting protein 5", "ADP-ribosylation factor-like protein 6-interacting protein 5", "ADP-ribosylation-like factor 6 interacting protein 5", "ARL-6-interacting protein 5", "DERP11", "GTRAP3-18", "HSPC127", "JM5", "JWA", "PRA1 domain family 3", "PRA1 family protein 3", "PRAF3", "Yip6b", "addicsin", "aip-5", "cytoskeleton related vitamin A responsive protein", "cytoskeleton-related vitamin A-responsive protein", "dermal papilla derived protein 11", "dermal papilla-derived protein 11", "glutamate transporter EAAC1-interacting protein", "glutamate transporter EEAC1-associated protein", "hp22", "jmx", "prenylated Rab acceptor protein 2", "putative MAPK activating protein PM27", "putative MAPK-activating protein PM27" ], "secondaryIds": [ "RGD:1344465" ], "genomeLocations": [ { "strand": "+", "endPosition": 69106092, "chromosome": "3", "assembly": "GRCh38", "startPosition": 69084937 } ], "primaryId": "HGNC:16937", "crossReferences": [ { "id": "ENSEMBL:ENSG00000144746" }, { "id": "NCBI_Gene:10550" }, { "id": "PANTHER:PTHR12859" }, { "id": "UniProtKB:O75915" }, { "pages": [ "gene/references" ], "id": "RGD:1344465" }, { "pages": [ "gene" ], "id": "HGNC:16937" }, { "id": "RGD:1344465" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL6IP6", "geneSynopsis": "Predicted to be located in nuclear inner membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ARF like GTPase 6 interacting protein 6", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 6 interacting protein 6", "ADP-ribosylation factor GTPase 6 interacting protein 6", "ADP-ribosylation factor like GTPase 6 interacting protein 6", "ADP-ribosylation factor-like 6 interacting protein 6", "ADP-ribosylation factor-like protein 6-interacting protein 6", "ADP-ribosylation-like factor 6 interacting protein 6", "ADP-ribosylation-like factor 6-interacting protein 6", "AIP-6", "AIP6", "ARL-6-interacting protein 6", "MGC33864", "PFAAP1", "phosphonoformate immuno-associated protein 1", "regulated by phosphonoformate" ], "secondaryIds": [ "RGD:1347021" ], "genomeLocations": [ { "strand": "+", "endPosition": 152762396, "chromosome": "2", "assembly": "GRCh38", "startPosition": 152717647 } ], "primaryId": "HGNC:24048", "crossReferences": [ { "id": "ENSEMBL:ENSG00000177917" }, { "id": "NCBI_Gene:151188" }, { "id": "PANTHER:PTHR28640" }, { "id": "UniProtKB:Q8N6S5" }, { "pages": [ "gene/references" ], "id": "RGD:1347021" }, { "pages": [ "gene" ], "id": "HGNC:24048" }, { "id": "RGD:1347021" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL8A", "geneSynopsis": "Enables GTP binding activity. Predicted to be involved in anterograde axonal transport and chromosome segregation. Located in cytoplasm; midbody; and spindle midzone. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ARF like GTPase 8A", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 8A", "ADP-ribosylation factor like GTPase 8A", "ADP-ribosylation factor-like 10B", "ADP-ribosylation factor-like 8A", "ADP-ribosylation factor-like protein 10B", "ADP-ribosylation factor-like protein 8A", "ARL10B", "FLJ45195", "GIE2", "GTPase indispensable for equal segregation of chromosomes 2", "novel small G protein indispensable for equal chromosome segregation 2", "small G protein indispensable for equal chromosome segregation 2" ], "secondaryIds": [ "RGD:1348114" ], "genomeLocations": [ { "strand": "-", "endPosition": 202144743, "chromosome": "1", "assembly": "GRCh38", "startPosition": 202133404 } ], "primaryId": "HGNC:25192", "crossReferences": [ { "id": "ENSEMBL:ENSG00000143862" }, { "id": "NCBI_Gene:127829" }, { "id": "PANTHER:PTHR45732" }, { "id": "UniProtKB:Q96BM9" }, { "pages": [ "gene/references" ], "id": "RGD:1348114" }, { "pages": [ "gene" ], "id": "HGNC:25192" }, { "id": "RGD:1348114" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL8B", "geneSynopsis": "Enables G protein activity; guanyl ribonucleotide binding activity; and tubulin binding activity. Involved in several processes, including antigen processing and presentation following phagocytosis; cytosolic transport; and vesicle fusion. Located in cytolytic granule membrane; midbody; and spindle midzone. Is active in early endosome membrane and lysosomal membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ARF like GTPase 8B", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 8B", "ADP-ribosylation factor like GTPase 8B", "ADP-ribosylation factor-like 10C", "ADP-ribosylation factor-like 8B", "ADP-ribosylation factor-like protein 10C", "ADP-ribosylation factor-like protein 8B", "ARL10C", "FLJ10702", "GTPase indispensable for equal segregation of chromosomes 1", "Gie1", "novel small G protein indispensable for equal chromosome segregation 1" ], "secondaryIds": [ "RGD:1351870" ], "genomeLocations": [ { "strand": "+", "endPosition": 5180911, "chromosome": "3", "assembly": "GRCh38", "startPosition": 5122249 } ], "primaryId": "HGNC:25564", "crossReferences": [ { "id": "ENSEMBL:ENSG00000134108" }, { "id": "NCBI_Gene:55207" }, { "id": "PANTHER:PTHR45732" }, { "id": "UniProtKB:Q9NVJ2" }, { "pages": [ "gene/references" ], "id": "RGD:1351870" }, { "pages": [ "gene" ], "id": "HGNC:25564" }, { "id": "RGD:1351870" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL8BP1", "soTermId": "SO:0000336", "name": "ARL8B pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:155783004" ], "genomeLocations": [ { "strand": "+", "endPosition": 196045254, "chromosome": "3", "assembly": "GRCh38", "startPosition": 196044695 } ], "primaryId": "HGNC:56628", "crossReferences": [ { "id": "ENSEMBL:ENSG00000228413" }, { "id": "NCBI_Gene:127566425" }, { "pages": [ "gene/references" ], "id": "RGD:155783004" }, { "pages": [ "gene" ], "id": "HGNC:56628" }, { "id": "RGD:155783004" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL8BP2", "soTermId": "SO:0000336", "name": "ARL8B pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 8B pseudogene", "LOC100131223" ], "secondaryIds": [ "RGD:38673999" ], "genomeLocations": [ { "strand": "-", "endPosition": 28121467, "chromosome": "1", "assembly": "GRCh38", "startPosition": 28120834 } ], "primaryId": "HGNC:56629", "crossReferences": [ { "id": "NCBI_Gene:100131223" }, { "pages": [ "gene/references" ], "id": "RGD:38673999" }, { "pages": [ "gene" ], "id": "HGNC:56629" }, { "id": "RGD:38673999" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARL9", "geneSynopsis": "ARL9 is a member of the small GTPase protein family with a high degree of similarity to ARF (MIM 103180) proteins of the RAS superfamily.[supplied by OMIM, Nov 2008]", "soTermId": "SO:0001217", "name": "ARF like GTPase 9", "basicGeneticEntity": { "synonyms": [ "ADP ribosylation factor like GTPase 9", "ADP-ribosylation factor like GTPase 9", "ADP-ribosylation factor-like 9", "ADP-ribosylation factor-like protein 9" ], "secondaryIds": [ "RGD:1606161" ], "genomeLocations": [ { "strand": "+", "endPosition": 56524959, "chromosome": "4", "assembly": "GRCh38", "startPosition": 56505209 } ], "primaryId": "HGNC:23592", "crossReferences": [ { "id": "ENSEMBL:ENSG00000196503" }, { "id": "NCBI_Gene:132946" }, { "id": "PANTHER:PTHR46724" }, { "id": "UniProtKB:Q6T311" }, { "pages": [ "gene/references" ], "id": "RGD:1606161" }, { "pages": [ "gene" ], "id": "HGNC:23592" }, { "id": "RGD:1606161" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARLN", "geneSynopsis": "Predicted to act upstream of or within negative regulation of ATPase-coupled calcium transmembrane transporter activity. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "allregulin", "basicGeneticEntity": { "synonyms": [ "ALN", "C4orf3", "HCV F-transactivated protein 1", "HCVFTP1", "SERCA regulator ALN", "SERCA regulator ARLN", "another-regulin", "chromosome 4 open reading frame 3", "hepatitis C virus F protein-transactivated protein 1", "hypothetical protein LOC401152", "sarcoplasmic/endoplasmic reticulum calcium ATPase regulator ALN", "sarcoplasmic/endoplasmic reticulum calcium ATPase regulator ARLN", "uncharacterized protein C4orf3" ], "secondaryIds": [ "RGD:1604907" ], "genomeLocations": [ { "strand": "-", "endPosition": 119304445, "chromosome": "4", "assembly": "GRCh38", "startPosition": 119296419 } ], "primaryId": "HGNC:19225", "crossReferences": [ { "id": "ENSEMBL:ENSG00000164096" }, { "id": "NCBI_Gene:401152" }, { "id": "PANTHER:PTHR37367" }, { "id": "UniProtKB:Q8WVX3" }, { "pages": [ "gene/references" ], "id": "RGD:1604907" }, { "pages": [ "gene" ], "id": "HGNC:19225" }, { "id": "RGD:1604907" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARLNC1", "geneSynopsis": "INTERACTS WITH 4,4'-sulfonyldiphenol", "soTermId": "SO:0001263", "name": "androgen receptor regulated long noncoding RNA 1", "basicGeneticEntity": { "synonyms": [ "LINC02170", "PRCAT47", "long intergenic non-protein coding RNA 2170" ], "secondaryIds": [ "RGD:11667205" ], "genomeLocations": [ { "strand": "-", "endPosition": 80892682, "chromosome": "16", "assembly": "GRCh38", "startPosition": 80826074 } ], "primaryId": "HGNC:53032", "crossReferences": [ { "id": "ENSEMBL:ENSG00000260896" }, { "id": "NCBI_Gene:100996425" }, { "pages": [ "gene/references" ], "id": "RGD:11667205" }, { "pages": [ "gene" ], "id": "HGNC:53032" }, { "id": "RGD:11667205" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMC1", "geneSynopsis": "Predicted to enable metal ion binding activity. Involved in intracellular distribution of mitochondria. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "armadillo repeat containing 1", "basicGeneticEntity": { "synonyms": [ "Arcp", "FLJ10511", "armadillo repeat-containing protein 1" ], "secondaryIds": [ "RGD:1343337" ], "genomeLocations": [ { "strand": "-", "endPosition": 65634217, "chromosome": "8", "assembly": "GRCh38", "startPosition": 65602456 } ], "primaryId": "HGNC:17684", "crossReferences": [ { "id": "ENSEMBL:ENSG00000104442" }, { "id": "NCBI_Gene:55156" }, { "id": "PANTHER:PTHR46840" }, { "id": "UniProtKB:Q9NVT9" }, { "pages": [ "gene/references" ], "id": "RGD:1343337" }, { "pages": [ "gene" ], "id": "HGNC:17684" }, { "id": "RGD:1343337" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMC10", "geneSynopsis": "This gene encodes a protein that contains an armadillo repeat and transmembrane domain. The encoded protein decreases the transcriptional activity of the tumor suppressor protein p53 through direct interaction with the DNA-binding domain of p53, and may play a role in cell growth and survival. Upregulation of this gene may play a role in hepatocellular carcinoma. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Sep 2011]", "soTermId": "SO:0001217", "name": "armadillo repeat containing 10", "basicGeneticEntity": { "synonyms": [ "FLJ37850", "MGC3195", "PNAS-112", "PNAS112", "PSEC0198", "SVH", "armadillo repeat-containing protein 10", "specific splicing variant involved in hepatocarcinogenesis", "splicing variant involved in hepatocarcinogenesis protein" ], "secondaryIds": [ "RGD:1605608" ], "genomeLocations": [ { "strand": "+", "endPosition": 103102902, "chromosome": "7", "assembly": "GRCh38", "startPosition": 103074625 } ], "primaryId": "HGNC:21706", "crossReferences": [ { "id": "ENSEMBL:ENSG00000170632" }, { "id": "NCBI_Gene:83787" }, { "id": "PANTHER:PTHR15712" }, { "id": "UniProtKB:Q8N2F6" }, { "pages": [ "gene/references" ], "id": "RGD:1605608" }, { "pages": [ "gene" ], "id": "HGNC:21706" }, { "id": "RGD:1605608" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMC10P1", "soTermId": "SO:0000336", "name": "armadillo repeat containing 10 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6482622" ], "genomeLocations": [ { "strand": "-", "endPosition": 94507650, "chromosome": "3", "assembly": "GRCh38", "startPosition": 94505552 } ], "primaryId": "HGNC:43646", "crossReferences": [ { "id": "ENSEMBL:ENSG00000178660" }, { "id": "NCBI_Gene:389137" }, { "pages": [ "gene/references" ], "id": "RGD:6482622" }, { "pages": [ "gene" ], "id": "HGNC:43646" }, { "id": "RGD:6482622" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMC12", "geneSynopsis": "Involved in positive regulation of cell growth and sperm mitochondrial sheath assembly. Located in nucleus. Implicated in spermatogenic failure 90. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "armadillo repeat containing 12", "basicGeneticEntity": { "synonyms": [ "C6orf81", "FLJ25390", "SPGF90", "armadillo repeat-containing protein 12", "hypothetical protein LOC221481", "uncharacterized protein C6orf81" ], "secondaryIds": [ "RGD:1314376" ], "genomeLocations": [ { "strand": "+", "endPosition": 35749079, "chromosome": "6", "assembly": "GRCh38", "startPosition": 35731524 } ], "primaryId": "HGNC:21099", "crossReferences": [ { "id": "ENSEMBL:ENSG00000157343" }, { "id": "NCBI_Gene:221481" }, { "id": "PANTHER:PTHR47144" }, { "id": "UniProtKB:Q5T9G4" }, { "pages": [ "gene/references" ], "id": "RGD:1314376" }, { "pages": [ "gene" ], "id": "HGNC:21099" }, { "id": "RGD:1314376" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMC2", "geneSynopsis": "Involved in sperm axoneme assembly. Implicated in spermatogenic failure 38. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "armadillo repeat containing 2", "basicGeneticEntity": { "synonyms": [ "DKFZp434P0714", "RP11-787I22.1", "SPGF38", "armadillo repeat-containing protein 2", "bA787I22.1" ], "secondaryIds": [ "RGD:1350350" ], "genomeLocations": [ { "strand": "+", "endPosition": 109053040, "chromosome": "6", "assembly": "GRCh38", "startPosition": 108848416 } ], "primaryId": "HGNC:23045", "crossReferences": [ { "id": "ENSEMBL:ENSG00000118690" }, { "id": "NCBI_Gene:84071" }, { "id": "PANTHER:PTHR21356" }, { "id": "UniProtKB:Q8NEN0" }, { "pages": [ "gene/references" ], "id": "RGD:1350350" }, { "pages": [ "gene" ], "id": "HGNC:23045" }, { "id": "RGD:1350350" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMC2-AS1", "geneSynopsis": "INTERACTS WITH lipopolysaccharide; S-(1,2-dichlorovinyl)-L-cysteine", "soTermId": "SO:0001263", "name": "ARMC2 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "RP11-249L21.5" ], "secondaryIds": [ "RGD:6480855" ], "genomeLocations": [ { "strand": "-", "endPosition": 108924127, "chromosome": "6", "assembly": "GRCh38", "startPosition": 108907264 } ], "primaryId": "HGNC:41008", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230290" }, { "id": "NCBI_Gene:101929716" }, { "pages": [ "gene/references" ], "id": "RGD:6480855" }, { "pages": [ "gene" ], "id": "HGNC:41008" }, { "id": "RGD:6480855" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMC3", "geneSynopsis": "Armadillo/beta-catenin (CTNNB1; MIM 116806)-like (ARM) domains are imperfect 45-amino acid repeats involved in protein-protein interactions. ARM domain-containing proteins, such as ARMC3, function in signal transduction, development, cell adhesion and mobility, and tumor initiation and metastasis (Li et al., 2006 [PubMed 16915934]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "armadillo repeat containing 3", "basicGeneticEntity": { "synonyms": [ "CT81", "FLJ25845", "FLJ32827", "KU-CT-1", "RP11-300B11.1", "VAC8", "armadillo repeat-containing protein 3", "beta-catenin-like protein", "cancer/testis antigen 81" ], "secondaryIds": [ "RGD:1312695" ], "genomeLocations": [ { "strand": "+", "endPosition": 23038523, "chromosome": "10", "assembly": "GRCh38", "startPosition": 22928024 } ], "primaryId": "HGNC:30964", "crossReferences": [ { "id": "ENSEMBL:ENSG00000165309" }, { "id": "NCBI_Gene:219681" }, { "id": "PANTHER:PTHR46618" }, { "id": "UniProtKB:Q5W041" }, { "pages": [ "gene/references" ], "id": "RGD:1312695" }, { "pages": [ "gene" ], "id": "HGNC:30964" }, { "id": "RGD:1312695" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMC5", "geneSynopsis": "This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The encoded protein contains seven ARM repeats. Mutations in this gene are associated with primary bilateral macronodular adrenal hyperplasia, which is also known as ACTH-independent macronodular adrenal hyperplasia 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]", "soTermId": "SO:0001217", "name": "armadillo repeat containing 5", "basicGeneticEntity": { "synonyms": [ "AIMAH2", "FLJ00019", "FLJ13063", "armadillo repeat-containing protein 5" ], "secondaryIds": [ "RGD:1315235" ], "genomeLocations": [ { "strand": "+", "endPosition": 31467172, "chromosome": "16", "assembly": "GRCh38", "startPosition": 31458080 } ], "primaryId": "HGNC:25781", "crossReferences": [ { "id": "ENSEMBL:ENSG00000140691" }, { "id": "NCBI_Gene:79798" }, { "id": "PANTHER:PTHR23312" }, { "id": "UniProtKB:Q96C12" }, { "pages": [ "gene/references" ], "id": "RGD:1315235" }, { "pages": [ "gene" ], "id": "HGNC:25781" }, { "id": "RGD:1315235" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMC6", "geneSynopsis": "The function of this gene's protein product has not been determined. A related protein in mouse suggests that this protein has a conserved function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]", "soTermId": "SO:0001217", "name": "armadillo repeat containing 6", "basicGeneticEntity": { "synonyms": [ "MGC19595", "R30923_1", "armadillo repeat-containing protein 6" ], "secondaryIds": [ "RGD:1348624" ], "genomeLocations": [ { "strand": "+", "endPosition": 19060311, "chromosome": "19", "assembly": "GRCh38", "startPosition": 19033575 } ], "primaryId": "HGNC:25049", "crossReferences": [ { "id": "ENSEMBL:ENSG00000105676" }, { "id": "NCBI_Gene:93436" }, { "id": "PANTHER:PTHR22895" }, { "id": "UniProtKB:Q6NXE6" }, { "pages": [ "gene/references" ], "id": "RGD:1348624" }, { "pages": [ "gene" ], "id": "HGNC:25049" }, { "id": "RGD:1348624" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMC7", "geneSynopsis": "Predicted to be involved in RNA splicing and mRNA processing. Predicted to be part of spliceosomal complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "armadillo repeat containing 7", "basicGeneticEntity": { "synonyms": [ "FLJ22160", "armadillo repeat-containing protein 7" ], "secondaryIds": [ "RGD:1347915" ], "genomeLocations": [ { "strand": "+", "endPosition": 75130272, "chromosome": "17", "assembly": "GRCh38", "startPosition": 75109952 } ], "primaryId": "HGNC:26168", "crossReferences": [ { "id": "ENSEMBL:ENSG00000125449" }, { "id": "NCBI_Gene:79637" }, { "id": "PANTHER:PTHR46263" }, { "id": "UniProtKB:Q9H6L4" }, { "pages": [ "gene/references" ], "id": "RGD:1347915" }, { "pages": [ "gene" ], "id": "HGNC:26168" }, { "id": "RGD:1347915" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMC8", "geneSynopsis": "Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Located in cytosol and nucleoplasm. Part of ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "armadillo repeat containing 8", "basicGeneticEntity": { "synonyms": [ "GID complex subunit 5, VID28 homolog", "GID5", "HSPC056", "MGC10058", "MGC4880", "S863-2", "VID28", "armadillo repeat-containing protein 8" ], "secondaryIds": [ "RGD:1601876" ], "genomeLocations": [ { "strand": "+", "endPosition": 138298389, "chromosome": "3", "assembly": "GRCh38", "startPosition": 138187248 } ], "primaryId": "HGNC:24999", "crossReferences": [ { "id": "ENSEMBL:ENSG00000114098" }, { "id": "NCBI_Gene:25852" }, { "id": "PANTHER:PTHR15651" }, { "id": "UniProtKB:Q8IUR7" }, { "pages": [ "gene/references" ], "id": "RGD:1601876" }, { "pages": [ "gene" ], "id": "HGNC:24999" }, { "id": "RGD:1601876" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMC8P1", "soTermId": "SO:0000336", "name": "armadillo repeat containing 8 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:9586121" ], "genomeLocations": [ { "strand": "-", "endPosition": 38454463, "chromosome": "9", "assembly": "GRCh38", "startPosition": 38452725 } ], "primaryId": "HGNC:49918", "crossReferences": [ { "id": "ENSEMBL:ENSG00000225254" }, { "id": "NCBI_Gene:100130871" }, { "pages": [ "gene/references" ], "id": "RGD:9586121" }, { "pages": [ "gene" ], "id": "HGNC:49918" }, { "id": "RGD:9586121" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMC9", "geneSynopsis": "Predicted to be involved in cilium assembly and positive regulation of smoothened signaling pathway. Located in centriole and ciliary basal body. Implicated in Joubert syndrome 30. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "armadillo repeat containing 9", "basicGeneticEntity": { "synonyms": [ "ARM", "FLJ12584", "JBTS30", "KU-MEL-1", "NS21", "armadillo repeat-containing protein 9", "armadillo/beta-catenin-like repeats", "lisH domain-containing protein ARMC9", "melanoma/melanocyte specific protein KU-MEL-1", "melanoma/melanocyte-specific tumor antigen KU-MEL-1" ], "secondaryIds": [ "RGD:1604597" ], "genomeLocations": [ { "strand": "+", "endPosition": 231376848, "chromosome": "2", "assembly": "GRCh38", "startPosition": 231198546 } ], "primaryId": "HGNC:20730", "crossReferences": [ { "id": "ENSEMBL:ENSG00000135931" }, { "id": "NCBI_Gene:80210" }, { "id": "PANTHER:PTHR14881" }, { "id": "UniProtKB:Q7Z3E5" }, { "pages": [ "gene/references" ], "id": "RGD:1604597" }, { "pages": [ "gene" ], "id": "HGNC:20730" }, { "id": "RGD:1604597" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMCX1", "geneSynopsis": "This gene encodes a member of the ALEX family of proteins and may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and two Armadillo (arm) repeats. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members, including ALEX2 and ALEX3, on the X chromosome. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "armadillo repeat containing X-linked 1", "basicGeneticEntity": { "synonyms": [ "ALEX1", "ARM protein lost in epithelial cancers on chromosome X 1", "DKFZp686P06199", "GASP7", "arm protein lost in epithelial cancers, X chromosome, 1", "armadillo repeat containing, X-linked 1", "armadillo repeat-containing X-linked protein 1" ], "secondaryIds": [ "RGD:1345943" ], "genomeLocations": [ { "strand": "+", "endPosition": 101554704, "chromosome": "X", "assembly": "GRCh38", "startPosition": 101550411 } ], "primaryId": "HGNC:18073", "crossReferences": [ { "id": "ENSEMBL:ENSG00000126947" }, { "id": "NCBI_Gene:51309" }, { "id": "PANTHER:PTHR15712" }, { "id": "UniProtKB:Q9P291" }, { "pages": [ "gene/references" ], "id": "RGD:1345943" }, { "pages": [ "gene" ], "id": "HGNC:18073" }, { "id": "RGD:1345943" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMCX2", "geneSynopsis": "This gene encodes a protein containing a potential N-terminal transmembrane domain and multiple armadillo (arm) repeats. Proteins containing arm repeats are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is located in a cluster of related genes on chromosome X. There is a pseudogene for this gene on chromosome 7. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013]", "soTermId": "SO:0001217", "name": "armadillo repeat containing X-linked 2", "basicGeneticEntity": { "synonyms": [ "ALEX2", "ARM protein lost in epithelial cancers on chromosome X 2", "GASP9", "KIAA0512", "MGC13343", "MGC8742", "arm protein lost in epithelial cancers, X chromosome, 2", "armadillo repeat containing, X-linked 2", "armadillo repeat protein ALEX2", "armadillo repeat-containing X-linked protein 2" ], "secondaryIds": [ "RGD:1602335" ], "genomeLocations": [ { "strand": "-", "endPosition": 101659924, "chromosome": "X", "assembly": "GRCh38", "startPosition": 101655157 } ], "primaryId": "HGNC:16869", "crossReferences": [ { "id": "ENSEMBL:ENSG00000184867" }, { "id": "NCBI_Gene:9823" }, { "id": "PANTHER:PTHR15712" }, { "id": "UniProtKB:Q7L311" }, { "pages": [ "gene/references" ], "id": "RGD:1602335" }, { "pages": [ "gene" ], "id": "HGNC:16869" }, { "id": "RGD:1602335" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMCX3", "geneSynopsis": "This gene encodes a member of the ALEX family of proteins which may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and a single Armadillo (arm) repeat. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members on the X chromosome. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "armadillo repeat containing X-linked 3", "basicGeneticEntity": { "synonyms": [ "1200004E24Rik", "ALEX3", "ARM protein lost in epithelial cancers on chromosome X 3", "DKFZp781N1954", "GASP6", "KIAA0443", "MGC12199", "arm protein lost in epithelial cancers, X chromosome, 3", "armadillo repeat containing, X-linked 3", "armadillo repeat-containing X-linked protein 3", "dJ545K15.2" ], "secondaryIds": [ "RGD:1604814" ], "genomeLocations": [ { "strand": "+", "endPosition": 101627843, "chromosome": "X", "assembly": "GRCh38", "startPosition": 101622797 } ], "primaryId": "HGNC:24065", "crossReferences": [ { "id": "ENSEMBL:ENSG00000102401" }, { "id": "NCBI_Gene:51566" }, { "id": "PANTHER:PTHR15712" }, { "id": "UniProtKB:Q9UH62" }, { "pages": [ "gene/references" ], "id": "RGD:1604814" }, { "pages": [ "gene" ], "id": "HGNC:24065" }, { "id": "RGD:1604814" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMCX3-AS1", "soTermId": "SO:0001263", "name": "ARMCX3 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "ARMCX3 antisense RNA 1 (non-protein coding)" ], "secondaryIds": [ "RGD:5144366" ], "genomeLocations": [ { "strand": "-", "endPosition": 101624164, "chromosome": "X", "assembly": "GRCh38", "startPosition": 101622983 } ], "primaryId": "HGNC:41038", "crossReferences": [ { "id": "ENSEMBL:ENSG00000228275" }, { "id": "NCBI_Gene:100128574" }, { "pages": [ "gene/references" ], "id": "RGD:5144366" }, { "pages": [ "gene" ], "id": "HGNC:41038" }, { "id": "RGD:5144366" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMCX4", "geneSynopsis": "The product of this gene belongs to the armadillo repeat-containing family of proteins, which interact with other proteins in a variety of cellular processes. The function of this family member is currently unknown. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]", "soTermId": "SO:0001217", "name": "armadillo repeat containing X-linked 4", "basicGeneticEntity": { "synonyms": [ "CXorf35", "DKFZp586N0819", "DKFZp781M0415", "FLJ39636", "FLJ43051", "FLJ45041", "GASP4", "MGC40053", "armadillo repeat containing, X-linked 4", "armadillo repeat containing, X-linked 4 pseudogene", "armadillo repeat-containing X-linked protein 4", "chromosome X open reading frame 35" ], "secondaryIds": [ "RGD:1347581" ], "genomeLocations": [ { "strand": "+", "endPosition": 101535988, "chromosome": "X", "assembly": "GRCh38", "startPosition": 101418278 } ], "primaryId": "HGNC:28615", "crossReferences": [ { "id": "ENSEMBL:ENSG00000196440" }, { "id": "NCBI_Gene:100131755" }, { "id": "PANTHER:PTHR47081" }, { "id": "UniProtKB:Q5H9R4" }, { "pages": [ "gene/references" ], "id": "RGD:1347581" }, { "pages": [ "gene" ], "id": "HGNC:28615" }, { "id": "RGD:1347581" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMCX5", "geneSynopsis": "INTERACTS WITH acrylamide; aflatoxin B1; antirheumatic drug", "soTermId": "SO:0001217", "name": "armadillo repeat containing X-linked 5", "basicGeneticEntity": { "synonyms": [ "DKFZp686A22185", "FLJ12969", "FLJ13382", "GASP5", "armadillo repeat containing, X-linked 5", "armadillo repeat-containing X-linked protein 5" ], "secondaryIds": [ "RGD:1350791" ], "genomeLocations": [ { "strand": "+", "endPosition": 102604159, "chromosome": "X", "assembly": "GRCh38", "startPosition": 102599168 } ], "primaryId": "HGNC:25772", "crossReferences": [ { "id": "ENSEMBL:ENSG00000125962" }, { "id": "NCBI_Gene:64860" }, { "id": "PANTHER:PTHR47081" }, { "id": "UniProtKB:Q6P1M9" }, { "pages": [ "gene/references" ], "id": "RGD:1350791" }, { "pages": [ "gene" ], "id": "HGNC:25772" }, { "id": "RGD:1350791" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMCX5-GPRASP2", "geneSynopsis": "This locus represents naturally occurring readthrough transcription among the adjacent armadillo repeat containing, X-linked 5 (ARMCX5), G protein-coupled receptor associated sorting proteins 1 and 2 (GPRASP1 and GPRASP2), basic helix-loop-helix family member b9 (BHLHB9), and long intergenic non-protein coding RNA 630 (LINC00630) genes on chromosome X. Transcripts may make use of multiple alternative promoters and polyadenylation signals in this region. Readthrough transcripts may produce proteins identical to the proteins encoded by GPRASP2 or BHLHB9. [provided by RefSeq, Apr 2017]", "soTermId": "SO:0001217", "name": "ARMCX5-GPRASP2 readthrough", "basicGeneticEntity": { "synonyms": [ "ARMCX5-GPRASP2-BHLHB9-LINC00630", "ARMCX5-GPRASP2-BHLHB9-LINC00630 readthrough", "FLJ39373", "G-protein coupled receptor-associated sorting protein 2", "GPRASP3", "KIAA1701", "bHLHb9", "p60TRP", "transcription regulator of 60 kDa" ], "secondaryIds": [ "RGD:5133068" ], "genomeLocations": [ { "strand": "+", "endPosition": 102908064, "chromosome": "X", "assembly": "GRCh38", "startPosition": 102599348 } ], "primaryId": "HGNC:42000", "crossReferences": [ { "id": "ENSEMBL:ENSG00000271147" }, { "id": "ENSEMBL:ENSG00000286237" }, { "id": "ENSEMBL:ENSG00000158301" }, { "id": "NCBI_Gene:100528062" }, { "id": "UniProtKB:B3KW05" }, { "id": "UniProtKB:Q8NAB4" }, { "id": "UniProtKB:Q9C0G2" }, { "id": "UniProtKB:Q6PI77" }, { "id": "UniProtKB:Q96D09" }, { "id": "UniProtKB:D3DXA0" }, { "pages": [ "gene/references" ], "id": "RGD:5133068" }, { "pages": [ "gene" ], "id": "HGNC:42000" }, { "id": "RGD:5133068" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMCX6", "geneSynopsis": "Predicted to be located in mitochondrial outer membrane. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "armadillo repeat containing X-linked 6", "basicGeneticEntity": { "synonyms": [ "FLJ20811", "GASP10", "armadillo repeat containing, X-linked 6" ], "secondaryIds": [ "RGD:1352776" ], "genomeLocations": [ { "strand": "-", "endPosition": 101618003, "chromosome": "X", "assembly": "GRCh38", "startPosition": 101615118 } ], "primaryId": "HGNC:26094", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198960" }, { "id": "NCBI_Gene:54470" }, { "id": "PANTHER:PTHR15712" }, { "id": "UniProtKB:Q7L4S7" }, { "pages": [ "gene/references" ], "id": "RGD:1352776" }, { "pages": [ "gene" ], "id": "HGNC:26094" }, { "id": "RGD:1352776" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMCX7P", "soTermId": "SO:0000336", "name": "armadillo repeat containing X-linked 7, pseudogene", "basicGeneticEntity": { "synonyms": [ "ARMCX6-ps", "GASP10ps", "armadillo repeat containing, X-linked 7, pseudogene" ], "secondaryIds": [ "RGD:9586338" ], "genomeLocations": [ { "strand": "+", "endPosition": 101598268, "chromosome": "X", "assembly": "GRCh38", "startPosition": 101597480 } ], "primaryId": "HGNC:49917", "crossReferences": [ { "id": "ENSEMBL:ENSG00000204072" }, { "id": "NCBI_Gene:653354" }, { "pages": [ "gene/references" ], "id": "RGD:9586338" }, { "pages": [ "gene" ], "id": "HGNC:49917" }, { "id": "RGD:9586338" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMH1", "geneSynopsis": "Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "armadillo like helical domain containing 1", "basicGeneticEntity": { "synonyms": [ "C1orf228", "MGC33556", "NCRNA00082", "armadillo-like helical domain containing 1", "armadillo-like helical domain containing protein 1", "chromosome 1 open reading frame 228", "hypothetical protein LOC339541", "p40", "uncharacterized protein C1orf228" ], "secondaryIds": [ "RGD:1606401" ], "genomeLocations": [ { "strand": "+", "endPosition": 44725591, "chromosome": "1", "assembly": "GRCh38", "startPosition": 44674692 } ], "primaryId": "HGNC:34345", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198520" }, { "id": "NCBI_Gene:339541" }, { "id": "PANTHER:PTHR34258" }, { "id": "UniProtKB:Q6PIY5" }, { "pages": [ "gene/references" ], "id": "RGD:1606401" }, { "pages": [ "gene" ], "id": "HGNC:34345" }, { "id": "RGD:1606401" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMH2", "geneSynopsis": "INTERACTS WITH aristolochic acid A; sodium arsenite", "soTermId": "SO:0001217", "name": "armadillo like helical domain containing 2", "basicGeneticEntity": { "synonyms": [ "C6orf229", "armadillo-like helical domain containing 2", "armadillo-like helical domain-containing protein 2", "chromosome 6 open reading frame 229", "uncharacterized protein C6orf229", "uncharacterized protein LOC101928603" ], "secondaryIds": [ "RGD:7779583" ], "genomeLocations": [ { "strand": "-", "endPosition": 24798917, "chromosome": "6", "assembly": "GRCh38", "startPosition": 24797335 } ], "primaryId": "HGNC:49394", "crossReferences": [ { "id": "ENSEMBL:ENSG00000260286" }, { "id": "NCBI_Gene:101928603" }, { "id": "PANTHER:PTHR37679" }, { "id": "UniProtKB:H3BNL8" }, { "pages": [ "gene/references" ], "id": "RGD:7779583" }, { "pages": [ "gene" ], "id": "HGNC:49394" }, { "id": "RGD:7779583" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMH3", "geneSynopsis": "Involved in regulation of Golgi organization. Located in Golgi membrane and cytosol. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "armadillo like helical domain containing 3", "basicGeneticEntity": { "synonyms": [ "C10orf76", "DGARM", "FLJ13114", "MGC125927", "RP11-190J1.9", "UPF0668 protein C10orf76", "armadillo-like helical domain containing 3", "armadillo-like helical domain-containing protein 3", "chromosome 10 open reading frame 76", "hypothetical protein LOC79591" ], "secondaryIds": [ "RGD:1313900" ], "genomeLocations": [ { "strand": "-", "endPosition": 102056258, "chromosome": "10", "assembly": "GRCh38", "startPosition": 101845599 } ], "primaryId": "HGNC:25788", "crossReferences": [ { "id": "ENSEMBL:ENSG00000120029" }, { "id": "NCBI_Gene:79591" }, { "id": "PANTHER:PTHR13608" }, { "id": "UniProtKB:Q5T2E6" }, { "pages": [ "gene/references" ], "id": "RGD:1313900" }, { "pages": [ "gene" ], "id": "HGNC:25788" }, { "id": "RGD:1313900" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMH4", "geneSynopsis": "Predicted to enable TORC2 complex binding activity. Involved in regulation of inflammatory response. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "armadillo like helical domain containing 4", "basicGeneticEntity": { "synonyms": [ "C14orf37", "UT2", "armadillo-like helical domain containing 4", "armadillo-like helical domain-containing protein 4", "c14_5376", "chromosome 14 open reading frame 37", "hypothetical protein LOC145407", "uncharacterized protein C14orf37", "upstream of mTORC2" ], "secondaryIds": [ "RGD:1351933" ], "genomeLocations": [ { "strand": "-", "endPosition": 58298139, "chromosome": "14", "assembly": "GRCh38", "startPosition": 57999735 } ], "primaryId": "HGNC:19846", "crossReferences": [ { "id": "ENSEMBL:ENSG00000139971" }, { "id": "NCBI_Gene:145407" }, { "id": "PANTHER:PTHR21585" }, { "id": "UniProtKB:Q86TY3" }, { "pages": [ "gene/references" ], "id": "RGD:1351933" }, { "pages": [ "gene" ], "id": "HGNC:19846" }, { "id": "RGD:1351933" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARMS2", "geneSynopsis": "This gene encodes a small secreted protein specific to primates. This protein is a component of the choroidal extracellular matrix of the eye. Mutations in this gene are associated with age-related macular degeneration. [provided by RefSeq, Sep 2017]", "soTermId": "SO:0001217", "name": "age-related maculopathy susceptibility 2", "basicGeneticEntity": { "synonyms": [ "ARMD8", "age-related maculopathy susceptibility protein 2" ], "secondaryIds": [ "RGD:1606093" ], "genomeLocations": [ { "strand": "+", "endPosition": 122457352, "chromosome": "10", "assembly": "GRCh38", "startPosition": 122454653 } ], "primaryId": "HGNC:32685", "crossReferences": [ { "id": "ENSEMBL:ENSG00000254636" }, { "id": "NCBI_Gene:387715" }, { "id": "UniProtKB:P0C7Q2" }, { "pages": [ "gene/references" ], "id": "RGD:1606093" }, { "pages": [ "gene" ], "id": "HGNC:32685" }, { "id": "RGD:1606093" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARNILA", "geneSynopsis": "INTERACTS WITH copper atom; copper(0); resveratrol", "soTermId": "SO:0001263", "name": "androgen receptor negatively regulated lncRNA", "basicGeneticEntity": { "secondaryIds": [ "RGD:18183043" ], "genomeLocations": [ { "strand": "-", "endPosition": 25376895, "chromosome": "2", "assembly": "GRCh38", "startPosition": 25369136 } ], "primaryId": "HGNC:54484", "crossReferences": [ { "id": "ENSEMBL:ENSG00000235072" }, { "id": "NCBI_Gene:116435288" }, { "pages": [ "gene/references" ], "id": "RGD:18183043" }, { "pages": [ "gene" ], "id": "HGNC:54484" }, { "id": "RGD:18183043" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARNT", "geneSynopsis": "This gene encodes a protein containing a basic helix-loop-helix domain and two characteristic PAS domains along with a PAC domain. The encoded protein binds to ligand-bound aryl hydrocarbon receptor and aids in the movement of this complex to the nucleus, where it promotes the expression of genes involved in xenobiotic metabolism. This protein is also a co-factor for transcriptional regulation by hypoxia-inducible factor 1. Chromosomal translocation of this locus with the ETV6 (ets variant 6) gene on chromosome 12 have been described in leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]", "soTermId": "SO:0001217", "name": "aryl hydrocarbon receptor nuclear translocator", "basicGeneticEntity": { "synonyms": [ "ARNT1", "HIF-1-beta", "HIF-1beta", "HIF1-beta", "HIF1B", "HIF1BETA", "TANGO", "bHLHe2", "class E basic helix-loop-helix protein 2", "dioxin receptor, nuclear translocator", "hypoxia inducible factor 1 subunit beta", "hypoxia-inducible factor 1, beta subunit", "hypoxia-inducible factor 1-beta" ], "secondaryIds": [ "RGD:732739" ], "genomeLocations": [ { "strand": "-", "endPosition": 150876771, "chromosome": "1", "assembly": "GRCh38", "startPosition": 150808617 } ], "primaryId": "HGNC:700", "crossReferences": [ { "id": "ENSEMBL:ENSG00000143437" }, { "id": "NCBI_Gene:405" }, { "id": "PANTHER:PTHR23042" }, { "id": "UniProtKB:P27540" }, { "pages": [ "gene/references" ], "id": "RGD:732739" }, { "pages": [ "gene" ], "id": "HGNC:700" }, { "id": "RGD:732739" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARNT2", "geneSynopsis": "This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting additional roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Dec 2013]", "soTermId": "SO:0001217", "name": "aryl hydrocarbon receptor nuclear translocator 2", "basicGeneticEntity": { "synonyms": [ "ARNT protein 2", "KIAA0307", "WEDAS", "aryl-hydrocarbon receptor nuclear translocator 2", "bHLHe1", "class E basic helix-loop-helix protein 1" ], "secondaryIds": [ "RGD:736413" ], "genomeLocations": [ { "strand": "+", "endPosition": 80597937, "chromosome": "15", "assembly": "GRCh38", "startPosition": 80404315 } ], "primaryId": "HGNC:16876", "crossReferences": [ { "id": "ENSEMBL:ENSG00000172379" }, { "id": "NCBI_Gene:9915" }, { "id": "PANTHER:PTHR23042" }, { "id": "UniProtKB:Q9HBZ2" }, { "pages": [ "gene/references" ], "id": "RGD:736413" }, { "pages": [ "gene" ], "id": "HGNC:16876" }, { "id": "RGD:736413" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARNT2-AS1", "soTermId": "SO:0001263", "name": "ARNT2 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LOC124903538", "uncharacterized LOC124903538" ], "secondaryIds": [ "RGD:151668857" ], "genomeLocations": [ { "strand": "-", "endPosition": 80584557, "chromosome": "15", "assembly": "GRCh38", "startPosition": 80580030 } ], "primaryId": "HGNC:58338", "crossReferences": [ { "id": "NCBI_Gene:124903538" }, { "pages": [ "gene/references" ], "id": "RGD:151668857" }, { "pages": [ "gene" ], "id": "HGNC:58338" }, { "id": "RGD:151668857" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARNT2-AS2", "soTermId": "SO:0001263", "name": "ARNT2 antisense RNA 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:616940549" ], "primaryId": "HGNC:58450", "crossReferences": [ { "id": "NCBI_Gene:141858807" }, { "pages": [ "gene/references" ], "id": "RGD:616940549" }, { "pages": [ "gene" ], "id": "HGNC:58450" }, { "id": "RGD:616940549" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARNT2-AS3", "soTermId": "SO:0001263", "name": "ARNT2 antisense RNA 3", "basicGeneticEntity": { "synonyms": [ "AC108451.1", "LOC101929586", "novel transcript, antisense to ARNT2", "uncharacterized LOC101929586" ], "secondaryIds": [ "RGD:16562059" ], "genomeLocations": [ { "strand": "-", "endPosition": 80562944, "chromosome": "15", "assembly": "GRCh38", "startPosition": 80554609 } ], "primaryId": "HGNC:58467", "crossReferences": [ { "id": "ENSEMBL:ENSG00000259175" }, { "id": "NCBI_Gene:101929586" }, { "pages": [ "gene/references" ], "id": "RGD:16562059" }, { "pages": [ "gene" ], "id": "HGNC:58467" }, { "id": "RGD:16562059" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARNT2-DT", "soTermId": "SO:0001263", "name": "ARNT2 divergent transcript", "basicGeneticEntity": { "synonyms": [ "LOC101929560", "uncharacterized LOC101929560" ], "secondaryIds": [ "RGD:38646700" ], "genomeLocations": [ { "strand": "-", "endPosition": 80411930, "chromosome": "15", "assembly": "GRCh38", "startPosition": 80344765 } ], "primaryId": "HGNC:56077", "crossReferences": [ { "id": "ENSEMBL:ENSG00000259495" }, { "id": "NCBI_Gene:101929560" }, { "pages": [ "gene/references" ], "id": "RGD:38646700" }, { "pages": [ "gene" ], "id": "HGNC:56077" }, { "id": "RGD:38646700" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPC1A", "geneSynopsis": "This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1B. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]", "soTermId": "SO:0001217", "name": "actin related protein 2/3 complex subunit 1A", "basicGeneticEntity": { "synonyms": [ "Arc40", "HEL-68", "HEL-S-307", "SOP2-like protein", "SOP2Hs", "SOP2L", "actin binding protein (Schizosaccharomyces pombe sop2-like)", "actin related protein 2/3 complex subunit 1A, 41kDa", "actin related protein 2/3 complex, subunit 1A, 41kDa", "actin-related protein 2/3 complex subunit 1A", "epididymis luminal protein 68", "epididymis secretory protein Li 307" ], "secondaryIds": [ "RGD:1344294" ], "genomeLocations": [ { "strand": "+", "endPosition": 99366267, "chromosome": "7", "assembly": "GRCh38", "startPosition": 99325880 } ], "primaryId": "HGNC:703", "crossReferences": [ { "id": "ENSEMBL:ENSG00000241685" }, { "id": "NCBI_Gene:10552" }, { "id": "PANTHER:PTHR10709" }, { "id": "UniProtKB:Q92747" }, { "pages": [ "gene/references" ], "id": "RGD:1344294" }, { "pages": [ "gene" ], "id": "HGNC:703" }, { "id": "RGD:1344294" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPC1AP1", "soTermId": "SO:0000336", "name": "ARPC1A pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AC079841.1", "LOC100422044", "actin related protein 2/3 complex subunit 1A pseudogene", "actin related protein 2/3 complex, subunit 1A, 41kDa (ARPC1A) pseudogene" ], "secondaryIds": [ "RGD:16557597" ], "genomeLocations": [ { "strand": "+", "endPosition": 121357944, "chromosome": "3", "assembly": "GRCh38", "startPosition": 121356991 } ], "primaryId": "HGNC:56494", "crossReferences": [ { "id": "ENSEMBL:ENSG00000242103" }, { "id": "NCBI_Gene:100422044" }, { "pages": [ "gene/references" ], "id": "RGD:16557597" }, { "pages": [ "gene" ], "id": "HGNC:56494" }, { "id": "RGD:16557597" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPC1AP2", "soTermId": "SO:0000336", "name": "ARPC1A pseudogene 2", "basicGeneticEntity": { "synonyms": [ "LOC204800", "actin related protein 2/3 complex subunit 1A pseudogene" ], "secondaryIds": [ "RGD:38662499" ], "genomeLocations": [ { "strand": "+", "endPosition": 53005346, "chromosome": "19", "assembly": "GRCh38", "startPosition": 53003943 } ], "primaryId": "HGNC:56495", "crossReferences": [ { "id": "NCBI_Gene:204800" }, { "pages": [ "gene/references" ], "id": "RGD:38662499" }, { "pages": [ "gene" ], "id": "HGNC:56495" }, { "id": "RGD:38662499" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPC1AP3", "soTermId": "SO:0000336", "name": "ARPC1A pseudogene 3", "basicGeneticEntity": { "synonyms": [ "LOC260421", "actin related protein 2/3 complex subunit 1A pseudogene" ], "secondaryIds": [ "RGD:38663591" ], "genomeLocations": [ { "strand": "+", "endPosition": 74800406, "chromosome": "5", "assembly": "GRCh38", "startPosition": 74798894 } ], "primaryId": "HGNC:56496", "crossReferences": [ { "id": "NCBI_Gene:260421" }, { "pages": [ "gene/references" ], "id": "RGD:38663591" }, { "pages": [ "gene" ], "id": "HGNC:56496" }, { "id": "RGD:38663591" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPC1AP4", "soTermId": "SO:0000336", "name": "ARPC1A pseudogene 4", "basicGeneticEntity": { "synonyms": [ "LOC260422", "actin related protein 2/3 complex subunit 1A pseudogene" ], "secondaryIds": [ "RGD:38640362" ], "genomeLocations": [ { "strand": "-", "endPosition": 86914917, "chromosome": "4", "assembly": "GRCh38", "startPosition": 86912928 } ], "primaryId": "HGNC:56497", "crossReferences": [ { "id": "NCBI_Gene:260422" }, { "pages": [ "gene/references" ], "id": "RGD:38640362" }, { "pages": [ "gene" ], "id": "HGNC:56497" }, { "id": "RGD:38640362" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPC1B", "geneSynopsis": "This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. This protein also has a role in centrosomal homeostasis by being an activator and substrate of the Aurora A kinase. [provided by RefSeq, Mar 2011]", "soTermId": "SO:0001217", "name": "actin related protein 2/3 complex subunit 1B", "basicGeneticEntity": { "synonyms": [ "ARC41", "ARP2/3 protein complex subunit p41", "IMD71", "PLTEID", "actin related protein 2/3 complex subunit 1B, 41kDa", "actin related protein 2/3 complex, subunit 1B, 41kDa", "actin related protein 2/3 complex, subunit 1b", "actin-related protein 2/3 complex subunit 1B", "arp2/3 complex 41 kDa subunit", "p40-ARC", "p41-ARC" ], "secondaryIds": [ "RGD:736395" ], "genomeLocations": [ { "strand": "+", "endPosition": 99394827, "chromosome": "7", "assembly": "GRCh38", "startPosition": 99374226 } ], "primaryId": "HGNC:704", "crossReferences": [ { "id": "ENSEMBL:ENSG00000130429" }, { "id": "NCBI_Gene:10095" }, { "id": "PANTHER:PTHR10709" }, { "id": "UniProtKB:O15143" }, { "pages": [ "gene/references" ], "id": "RGD:736395" }, { "pages": [ "gene" ], "id": "HGNC:704" }, { "id": "RGD:736395" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPC1BP1", "soTermId": "SO:0000336", "name": "ARPC1B pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AC012362.1", "actin related protein 2/3 complex, subunit 1A, 41kDa (ARPC1A) pseudogene" ], "secondaryIds": [ "RGD:14995958" ], "genomeLocations": [ { "strand": "-", "endPosition": 208361369, "chromosome": "2", "assembly": "GRCh38", "startPosition": 208360631 } ], "primaryId": "HGNC:54638", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213081" }, { "id": "NCBI_Gene:100288663" }, { "pages": [ "gene/references" ], "id": "RGD:14995958" }, { "pages": [ "gene" ], "id": "HGNC:54638" }, { "id": "RGD:14995958" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPC2", "geneSynopsis": "This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p34 subunit, has yet to be determined. Two alternatively spliced variants have been characterized to date. Additional alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "actin related protein 2/3 complex subunit 2", "basicGeneticEntity": { "synonyms": [ "ARC34", "ARP2/3 protein complex subunit 34", "PNAS-139", "PRO2446", "actin related protein 2/3 complex subunit 2, 34kDa", "actin related protein 2/3 complex, subunit 2, 34kDa", "actin-related protein 2/3 complex subunit 2", "arp2/3 complex 34 kDa subunit", "p34-Arc", "testis tissue sperm-binding protein Li 53e" ], "secondaryIds": [ "RGD:1314126" ], "genomeLocations": [ { "strand": "+", "endPosition": 218254356, "chromosome": "2", "assembly": "GRCh38", "startPosition": 218216630 } ], "primaryId": "HGNC:705", "crossReferences": [ { "id": "ENSEMBL:ENSG00000163466" }, { "id": "NCBI_Gene:10109" }, { "id": "PANTHER:PTHR12058" }, { "id": "UniProtKB:O15144" }, { "pages": [ "gene/references" ], "id": "RGD:1314126" }, { "pages": [ "gene" ], "id": "HGNC:705" }, { "id": "RGD:1314126" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPC3", "geneSynopsis": "This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been conserved through evolution and is implicated in the control of actin polymerization in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]", "soTermId": "SO:0001217", "name": "actin related protein 2/3 complex subunit 3", "basicGeneticEntity": { "synonyms": [ "ARC21", "ARP2/3 protein complex subunit p21", "actin related protein 2/3 complex subunit 3, 21kDa", "actin related protein 2/3 complex, subunit 3, 21kDa", "actin-related protein 2/3 complex subunit 3", "arp2/3 complex 21 kDa subunit", "p21-Arc" ], "secondaryIds": [ "RGD:1323728" ], "genomeLocations": [ { "strand": "-", "endPosition": 110450422, "chromosome": "12", "assembly": "GRCh38", "startPosition": 110434582 } ], "primaryId": "HGNC:706", "crossReferences": [ { "id": "ENSEMBL:ENSG00000111229" }, { "id": "NCBI_Gene:10094" }, { "id": "PANTHER:PTHR12391" }, { "id": "UniProtKB:O15145" }, { "pages": [ "gene/references" ], "id": "RGD:1323728" }, { "pages": [ "gene" ], "id": "HGNC:706" }, { "id": "RGD:1323728" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPC3P1", "soTermId": "SO:0000336", "name": "actin related protein 2/3 complex subunit 3 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ARPC3B", "dJ470L14.3" ], "secondaryIds": [ "RGD:1353664" ], "genomeLocations": [ { "strand": "+", "endPosition": 49135297, "chromosome": "20", "assembly": "GRCh38", "startPosition": 49134451 } ], "primaryId": "HGNC:16092", "crossReferences": [ { "id": "ENSEMBL:ENSG00000226284" }, { "id": "NCBI_Gene:87171" }, { "pages": [ "gene/references" ], "id": "RGD:1353664" }, { "pages": [ "gene" ], "id": "HGNC:16092" }, { "id": "RGD:1353664" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPC3P2", "soTermId": "SO:0000336", "name": "actin related protein 2/3 complex subunit 3 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:4890650" ], "genomeLocations": [ { "strand": "+", "endPosition": 211443003, "chromosome": "1", "assembly": "GRCh38", "startPosition": 211442254 } ], "primaryId": "HGNC:39431", "crossReferences": [ { "id": "ENSEMBL:ENSG00000238137" }, { "id": "NCBI_Gene:391160" }, { "pages": [ "gene/references" ], "id": "RGD:4890650" }, { "pages": [ "gene" ], "id": "HGNC:39431" }, { "id": "RGD:4890650" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPC3P3", "soTermId": "SO:0000336", "name": "actin related protein 2/3 complex subunit 3 pseudogene 3", "basicGeneticEntity": { "secondaryIds": [ "RGD:4890511" ], "genomeLocations": [ { "strand": "-", "endPosition": 94189036, "chromosome": "11", "assembly": "GRCh38", "startPosition": 94188164 } ], "primaryId": "HGNC:39432", "crossReferences": [ { "id": "NCBI_Gene:729494" }, { "pages": [ "gene/references" ], "id": "RGD:4890511" }, { "pages": [ "gene" ], "id": "HGNC:39432" }, { "id": "RGD:4890511" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPC3P4", "soTermId": "SO:0000336", "name": "actin related protein 2/3 complex subunit 3 pseudogene 4", "basicGeneticEntity": { "secondaryIds": [ "RGD:4890485" ], "genomeLocations": [ { "strand": "-", "endPosition": 73922227, "chromosome": "11", "assembly": "GRCh38", "startPosition": 73921397 } ], "primaryId": "HGNC:39434", "crossReferences": [ { "id": "NCBI_Gene:100421973" }, { "pages": [ "gene/references" ], "id": "RGD:4890485" }, { "pages": [ "gene" ], "id": "HGNC:39434" }, { "id": "RGD:4890485" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPC3P5", "soTermId": "SO:0000336", "name": "actin related protein 2/3 complex subunit 3 pseudogene 5", "basicGeneticEntity": { "secondaryIds": [ "RGD:4890724" ], "genomeLocations": [ { "strand": "+", "endPosition": 15935514, "chromosome": "6", "assembly": "GRCh38", "startPosition": 15934743 } ], "primaryId": "HGNC:39435", "crossReferences": [ { "id": "ENSEMBL:ENSG00000214027" }, { "id": "NCBI_Gene:441131" }, { "pages": [ "gene/references" ], "id": "RGD:4890724" }, { "pages": [ "gene" ], "id": "HGNC:39435" }, { "id": "RGD:4890724" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPC4", "geneSynopsis": "This gene encodes one of seven subunits of the human Arp2/3 protein complex. This complex controls actin polymerization in cells and has been conserved throughout eukaryotic evolution. This gene encodes the p20 subunit, which is necessary for actin nucleation and high-affinity binding to F-actin. Alternative splicing results in multiple transcript variants. Naturally occurring read-through transcription exists between this gene and the downstream tubulin tyrosine ligase-like family, member 3 (TTLL3), which results in the production of a fusion protein. [provided by RefSeq, Nov 2010]", "soTermId": "SO:0001217", "name": "actin related protein 2/3 complex subunit 4", "basicGeneticEntity": { "synonyms": [ "ARC20", "Arp2/3 protein complex subunit p20", "DEVLO", "MGC13544", "actin related protein 2/3 complex subunit 4, 20kDa", "actin related protein 2/3 complex, subunit 4, 20kDa", "actin-related protein 2/3 complex subunit 4", "arp2/3 complex 20 kDa subunit", "p20-Arc" ], "secondaryIds": [ "RGD:1320803" ], "genomeLocations": [ { "strand": "+", "endPosition": 9807107, "chromosome": "3", "assembly": "GRCh38", "startPosition": 9792493 } ], "primaryId": "HGNC:707", "crossReferences": [ { "id": "ENSEMBL:ENSG00000241553" }, { "id": "NCBI_Gene:10093" }, { "id": "PANTHER:PTHR22629" }, { "id": "UniProtKB:P59998" }, { "pages": [ "gene/references" ], "id": "RGD:1320803" }, { "pages": [ "gene" ], "id": "HGNC:707" }, { "id": "RGD:1320803" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPC4-TTLL3", "geneSynopsis": "This locus represents naturally occurring read-through transcription between the neighboring ARPC4 (actin related protein 2/3 complex, subunit 4) and TTLL3 (tubulin tyrosine ligase-like family, member 3) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010]", "soTermId": "SO:0001217", "name": "ARPC4-TTLL3 readthrough", "basicGeneticEntity": { "synonyms": [ "ARC20", "ARPC4", "ARPC4-TTLL3 fusion protein", "ARPC4-TTLL3 read-through transcript", "Actin-related protein 2/3 complex subunit 4", "Arp2/3 complex 20 kDa subunit", "FLJ14048", "p20-ARC" ], "secondaryIds": [ "RGD:5013864" ], "genomeLocations": [ { "strand": "+", "endPosition": 9836356, "chromosome": "3", "assembly": "GRCh38", "startPosition": 9792548 } ], "primaryId": "HGNC:38830", "crossReferences": [ { "id": "ENSEMBL:ENSG00000250151" }, { "id": "NCBI_Gene:100526693" }, { "id": "PANTHER:PTHR22629" }, { "id": "PANTHER:PTHR45870" }, { "id": "UniProtKB:F8WCF6" }, { "id": "UniProtKB:A0A0A6YYG9" }, { "id": "UniProtKB:F8WE39" }, { "id": "UniProtKB:H7C0A3" }, { "pages": [ "gene/references" ], "id": "RGD:5013864" }, { "pages": [ "gene" ], "id": "HGNC:38830" }, { "id": "RGD:5013864" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPC5", "geneSynopsis": "This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p16 subunit, has yet to be determined. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]", "soTermId": "SO:0001217", "name": "actin related protein 2/3 complex subunit 5", "basicGeneticEntity": { "synonyms": [ "ARC16", "Arp2/3 protein complex subunit p16", "IMD113", "MGC88523", "actin related protein 2/3 complex subunit 5, 16kDa", "actin related protein 2/3 complex, subunit 5, 16kDa", "actin-related protein 2/3 complex subunit 5", "arp2/3 complex 16 kDa subunit", "dJ127C7.3", "p16-Arc" ], "secondaryIds": [ "RGD:1323427" ], "genomeLocations": [ { "strand": "-", "endPosition": 183635783, "chromosome": "1", "assembly": "GRCh38", "startPosition": 183620846 } ], "primaryId": "HGNC:708", "crossReferences": [ { "id": "ENSEMBL:ENSG00000162704" }, { "id": "NCBI_Gene:10092" }, { "id": "PANTHER:PTHR12644" }, { "id": "UniProtKB:O15511" }, { "pages": [ "gene/references" ], "id": "RGD:1323427" }, { "pages": [ "gene" ], "id": "HGNC:708" }, { "id": "RGD:1323427" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPC5L", "geneSynopsis": "Predicted to enable actin filament binding activity. Predicted to be involved in Arp2/3 complex-mediated actin nucleation and cell migration. Located in extracellular exosome and focal adhesion. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "actin related protein 2/3 complex subunit 5 like", "basicGeneticEntity": { "synonyms": [ "ARC16-2", "ARPC5B", "MGC3038", "actin related protein 2/3 complex subunit 5-like", "actin related protein 2/3 complex, subunit 5-like", "actin-related protein 2/3 complex subunit 5-like protein", "arp2/3 complex 16 kDa subunit 2" ], "secondaryIds": [ "RGD:1318888" ], "genomeLocations": [ { "strand": "+", "endPosition": 124877733, "chromosome": "9", "assembly": "GRCh38", "startPosition": 124862130 } ], "primaryId": "HGNC:23366", "crossReferences": [ { "id": "ENSEMBL:ENSG00000136950" }, { "id": "NCBI_Gene:81873" }, { "id": "PANTHER:PTHR12644" }, { "id": "UniProtKB:Q9BPX5" }, { "pages": [ "gene/references" ], "id": "RGD:1318888" }, { "pages": [ "gene" ], "id": "HGNC:23366" }, { "id": "RGD:1318888" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPIN", "geneSynopsis": "Involved in directional locomotion; negative regulation of cell migration; and negative regulation of cellular component organization. Predicted to be located in lamellipodium. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "actin related protein 2/3 complex inhibitor", "basicGeneticEntity": { "synonyms": [ "C15orf38", "MGC61550", "UPF0552 protein C15orf38", "actin-related protein 2/3 complex inhibitor", "arp2/3 inhibition protein", "hypothetical protein LOC348110" ], "secondaryIds": [ "RGD:1604167" ], "genomeLocations": [ { "strand": "-", "endPosition": 89912952, "chromosome": "15", "assembly": "GRCh38", "startPosition": 89895006 } ], "primaryId": "HGNC:28782", "crossReferences": [ { "id": "ENSEMBL:ENSG00000242498" }, { "id": "NCBI_Gene:348110" }, { "id": "PANTHER:PTHR31199" }, { "id": "UniProtKB:Q7Z6K5" }, { "pages": [ "gene/references" ], "id": "RGD:1604167" }, { "pages": [ "gene" ], "id": "HGNC:28782" }, { "id": "RGD:1604167" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPIN-AP3S2", "geneSynopsis": "This locus represents naturally occurring read-through transcription between the neighboring C15orf38 (chromosome 15 open reading frame 38) and AP3S2 (adaptor-related protein complex 3, sigma 2 subunit) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010]", "soTermId": "SO:0001217", "name": "ARPIN-AP3S2 readthrough", "basicGeneticEntity": { "synonyms": [ "ARPIN", "C15orf38", "C15orf38-AP3S2", "C15orf38-AP3S2 fusion protein", "C15orf38-AP3S2 readthrough", "FLJ20488", "uncharacterized protein LOC100526783" ], "secondaryIds": [ "RGD:5013871" ], "genomeLocations": [ { "strand": "-", "endPosition": 89912952, "chromosome": "15", "assembly": "GRCh38", "startPosition": 89830599 } ], "primaryId": "HGNC:38824", "crossReferences": [ { "id": "ENSEMBL:ENSG00000250021" }, { "id": "NCBI_Gene:100526783" }, { "id": "PANTHER:PTHR11753" }, { "id": "PANTHER:PTHR31199" }, { "id": "UniProtKB:A0A0A6YYH1" }, { "id": "UniProtKB:H0YL85" }, { "id": "UniProtKB:H0YMK0" }, { "pages": [ "gene/references" ], "id": "RGD:5013871" }, { "pages": [ "gene" ], "id": "HGNC:38824" }, { "id": "RGD:5013871" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPP19", "geneSynopsis": "The 19-kD cAMP-regulated phosphoprotein plays a role in regulating mitosis by inhibiting protein phosphatase-2A (PP2A; see MIM 176915) (summary by Gharbi-Ayachi et al., 2010 [PubMed 21164014]).[supplied by OMIM, Feb 2011]", "soTermId": "SO:0001217", "name": "cAMP regulated phosphoprotein 19", "basicGeneticEntity": { "synonyms": [ "ARPP-16", "ARPP-19", "ARPP16", "ENSAL", "FLJ41622", "cAMP regulated phosphoprotein 19kDa", "cAMP-regulated phosphoprotein 19", "cAMP-regulated phosphoprotein 19kDa", "cAMP-regulated phosphoprotein, 19kDa", "cyclic AMP phosphoprotein, 19 kD", "endosulfine alpha-like" ], "secondaryIds": [ "RGD:1606318" ], "genomeLocations": [ { "strand": "-", "endPosition": 52569883, "chromosome": "15", "assembly": "GRCh38", "startPosition": 52547045 } ], "primaryId": "HGNC:16967", "crossReferences": [ { "id": "ENSEMBL:ENSG00000128989" }, { "id": "NCBI_Gene:10776" }, { "id": "PANTHER:PTHR10358" }, { "id": "UniProtKB:P56211" }, { "pages": [ "gene/references" ], "id": "RGD:1606318" }, { "pages": [ "gene" ], "id": "HGNC:16967" }, { "id": "RGD:1606318" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPP19P1", "soTermId": "SO:0000336", "name": "ARPP19 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:15045467" ], "genomeLocations": [ { "strand": "+", "endPosition": 180987560, "chromosome": "5", "assembly": "GRCh38", "startPosition": 180982174 } ], "primaryId": "HGNC:54698", "crossReferences": [ { "id": "NCBI_Gene:646227" }, { "pages": [ "gene/references" ], "id": "RGD:15045467" }, { "pages": [ "gene" ], "id": "HGNC:54698" }, { "id": "RGD:15045467" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPP19P2", "soTermId": "SO:0000336", "name": "ARPP19 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:15044323" ], "genomeLocations": [ { "strand": "+", "endPosition": 100510358, "chromosome": "2", "assembly": "GRCh38", "startPosition": 100509234 } ], "primaryId": "HGNC:54699", "crossReferences": [ { "id": "NCBI_Gene:643896" }, { "pages": [ "gene/references" ], "id": "RGD:15044323" }, { "pages": [ "gene" ], "id": "HGNC:54699" }, { "id": "RGD:15044323" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPP21", "geneSynopsis": "This gene encodes a cAMP-regulated phosphoprotein. The encoded protein is enriched in the caudate nucleus and cerebellar cortex. A similar protein in mouse may be involved in regulating the effects of dopamine in the basal ganglia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]", "soTermId": "SO:0001217", "name": "cAMP regulated phosphoprotein 21", "basicGeneticEntity": { "synonyms": [ "ARPP-21", "FLJ32997", "R3H domain containing 3", "R3HDM3", "RCS", "TARPP", "cAMP regulated phosphoprotein 21kDa", "cAMP-regulated phosphoprotein 21", "cAMP-regulated phosphoprotein 21kDa", "cAMP-regulated phosphoprotein, 21kDa", "cyclic AMP-regulated phosphoprotein, 21 kD", "thymocyte cAMP-regulated phosphoprotein" ], "secondaryIds": [ "RGD:1606317" ], "genomeLocations": [ { "strand": "+", "endPosition": 35794496, "chromosome": "3", "assembly": "GRCh38", "startPosition": 35638853 } ], "primaryId": "HGNC:16968", "crossReferences": [ { "id": "ENSEMBL:ENSG00000172995" }, { "id": "NCBI_Gene:10777" }, { "id": "PANTHER:PTHR15672" }, { "id": "UniProtKB:Q9UBL0" }, { "pages": [ "gene/references" ], "id": "RGD:1606317" }, { "pages": [ "gene" ], "id": "HGNC:16968" }, { "id": "RGD:1606317" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARPP21-AS1", "soTermId": "SO:0001263", "name": "ARPP21 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481301" ], "genomeLocations": [ { "strand": "-", "endPosition": 35651961, "chromosome": "3", "assembly": "GRCh38", "startPosition": 35650197 } ], "primaryId": "HGNC:40785", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230830" }, { "id": "NCBI_Gene:100874098" }, { "pages": [ "gene/references" ], "id": "RGD:6481301" }, { "pages": [ "gene" ], "id": "HGNC:40785" }, { "id": "RGD:6481301" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARR3", "geneSynopsis": "The protein encoded by this gene is a non-visual arrestin which binds to agonist-activated, phosphorylated G protein-coupled receptors. This binding uncouples the receptor from the heterotrimeric G protein, resulting in termination of the G protein-coupled receptor signaling. The encoded protein also is a part of the centrosome, interacting with gamma-tubulin to help regulate proper centrosome function. [provided by RefSeq, May 2016]", "soTermId": "SO:0001217", "name": "arrestin 3", "basicGeneticEntity": { "synonyms": [ "ARRX", "C-arrestin", "MYP26", "X-arrestin", "arrestin 3 retinal (X-arrestin)", "arrestin 3, retinal (X-arrestin)", "arrestin 4", "arrestin-C", "cArr", "cone arrestin", "retinal cone arrestin-3" ], "secondaryIds": [ "RGD:1350252" ], "genomeLocations": [ { "strand": "+", "endPosition": 70281883, "chromosome": "X", "assembly": "GRCh38", "startPosition": 70268305 } ], "primaryId": "HGNC:710", "crossReferences": [ { "id": "ENSEMBL:ENSG00000120500" }, { "id": "NCBI_Gene:407" }, { "id": "PANTHER:PTHR11792" }, { "id": "UniProtKB:P36575" }, { "pages": [ "gene/references" ], "id": "RGD:1350252" }, { "pages": [ "gene" ], "id": "HGNC:710" }, { "id": "RGD:1350252" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARRB1", "geneSynopsis": "Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 1 is a cytosolic protein and acts as a cofactor in the beta-adrenergic receptor kinase (BARK) mediated desensitization of beta-adrenergic receptors. Besides the central nervous system, it is expressed at high levels in peripheral blood leukocytes, and thus the BARK/beta-arrestin system is believed to play a major role in regulating receptor-mediated immune functions. Alternatively spliced transcripts encoding different isoforms of arrestin beta 1 have been described. [provided by RefSeq, Jan 2011]", "soTermId": "SO:0001217", "name": "arrestin beta 1", "basicGeneticEntity": { "synonyms": [ "ARB1", "ARR1", "arrestin 2", "arrestin beta-1", "arrestin, beta 1", "beta-arrestin", "beta-arrestin-1", "non-visual arrestin-2" ], "secondaryIds": [ "RGD:732370" ], "genomeLocations": [ { "strand": "-", "endPosition": 75351791, "chromosome": "11", "assembly": "GRCh38", "startPosition": 75260122 } ], "primaryId": "HGNC:711", "crossReferences": [ { "id": "ENSEMBL:ENSG00000137486" }, { "id": "NCBI_Gene:408" }, { "id": "PANTHER:PTHR11792" }, { "id": "UniProtKB:P49407" }, { "pages": [ "gene/references" ], "id": "RGD:732370" }, { "pages": [ "gene" ], "id": "HGNC:711" }, { "id": "RGD:732370" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARRB2", "geneSynopsis": "Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 2, like arrestin beta 1, was shown to inhibit beta-adrenergic receptor function in vitro. It is expressed at high levels in the central nervous system and may play a role in the regulation of synaptic receptors. Besides the brain, a cDNA for arrestin beta 2 was isolated from thyroid gland, and thus it may also be involved in hormone-specific desensitization of TSH receptors. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]", "soTermId": "SO:0001217", "name": "arrestin beta 2", "basicGeneticEntity": { "synonyms": [ "ARB2", "ARR2", "BARR2", "DKFZp686L0365", "arrestin 3", "arrestin beta-2", "arrestin, beta 2", "beta-arrestin-2", "non-visual arrestin-3" ], "secondaryIds": [ "RGD:731570" ], "genomeLocations": [ { "strand": "+", "endPosition": 4721500, "chromosome": "17", "assembly": "GRCh38", "startPosition": 4710393 } ], "primaryId": "HGNC:712", "crossReferences": [ { "id": "ENSEMBL:ENSG00000141480" }, { "id": "NCBI_Gene:409" }, { "id": "PANTHER:PTHR11792" }, { "id": "UniProtKB:P32121" }, { "pages": [ "gene/references" ], "id": "RGD:731570" }, { "pages": [ "gene" ], "id": "HGNC:712" }, { "id": "RGD:731570" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARRDC1", "geneSynopsis": "Enables several functions, including arrestin family protein binding activity; ubiquitin protein ligase binding activity; and ubiquitin-like ligase-substrate adaptor activity. Involved in several processes, including extracellular vesicle biogenesis; negative regulation of Notch signaling pathway; and ubiquitin-dependent protein catabolic process. Located in cytoplasmic vesicle; extracellular vesicle; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "arrestin domain containing 1", "basicGeneticEntity": { "synonyms": [ "MGC40555", "RP11-48C7.5", "alpha-arrestin 1", "arrestin domain-containing protein 1" ], "secondaryIds": [ "RGD:1320585" ], "genomeLocations": [ { "strand": "+", "endPosition": 137616227, "chromosome": "9", "assembly": "GRCh38", "startPosition": 137605619 } ], "primaryId": "HGNC:28633", "crossReferences": [ { "id": "ENSEMBL:ENSG00000197070" }, { "id": "NCBI_Gene:92714" }, { "id": "PANTHER:PTHR11188" }, { "id": "UniProtKB:Q8N5I2" }, { "pages": [ "gene/references" ], "id": "RGD:1320585" }, { "pages": [ "gene" ], "id": "HGNC:28633" }, { "id": "RGD:1320585" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARRDC1-AS1", "geneSynopsis": "This transcribed locus is thought to be non-coding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]", "soTermId": "SO:0001263", "name": "ARRDC1 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AD038", "C9orf37", "uncharacterized protein C9orf37" ], "secondaryIds": [ "RGD:1343340" ], "genomeLocations": [ { "strand": "-", "endPosition": 137618906, "chromosome": "9", "assembly": "GRCh38", "startPosition": 137615326 } ], "primaryId": "HGNC:23395", "crossReferences": [ { "id": "ENSEMBL:ENSG00000203993" }, { "id": "NCBI_Gene:85026" }, { "id": "UniProtKB:Q9H2J1" }, { "pages": [ "gene/references" ], "id": "RGD:1343340" }, { "pages": [ "gene" ], "id": "HGNC:23395" }, { "id": "RGD:1343340" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARRDC2", "geneSynopsis": "Predicted to be involved in protein transport. Located in cytoplasmic vesicle and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "arrestin domain containing 2", "basicGeneticEntity": { "synonyms": [ "CLONE24945", "PP2703", "arrestin domain-containing protein 2" ], "secondaryIds": [ "RGD:1320117" ], "genomeLocations": [ { "strand": "+", "endPosition": 18014102, "chromosome": "19", "assembly": "GRCh38", "startPosition": 18001124 } ], "primaryId": "HGNC:25225", "crossReferences": [ { "id": "ENSEMBL:ENSG00000105643" }, { "id": "NCBI_Gene:27106" }, { "id": "PANTHER:PTHR11188" }, { "id": "UniProtKB:Q8TBH0" }, { "pages": [ "gene/references" ], "id": "RGD:1320117" }, { "pages": [ "gene" ], "id": "HGNC:25225" }, { "id": "RGD:1320117" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARRDC3", "geneSynopsis": "This gene encodes a member of the arrestin family of proteins, which regulate G protein-mediated signaling. The encoded protein is thought to act as a regulator of breast cancer growth and progression by binding to a phosphorylated form of integrin beta4, a tumor-related antigen, targeting the integrin for internalization and degradation. [provided by RefSeq, Jul 2016]", "soTermId": "SO:0001217", "name": "arrestin domain containing 3", "basicGeneticEntity": { "synonyms": [ "KIAA1376", "TBP-2-like inducible membrane protein", "TLIMP", "alpha-arrestin 3", "arrestin domain-containing protein 3", "thioredoxin-binding protein-2-like inducible membrane" ], "secondaryIds": [ "RGD:1348140" ], "genomeLocations": [ { "strand": "-", "endPosition": 91383317, "chromosome": "5", "assembly": "GRCh38", "startPosition": 91368631 } ], "primaryId": "HGNC:29263", "crossReferences": [ { "id": "ENSEMBL:ENSG00000113369" }, { "id": "NCBI_Gene:57561" }, { "id": "PANTHER:PTHR11188" }, { "id": "UniProtKB:Q96B67" }, { "pages": [ "gene/references" ], "id": "RGD:1348140" }, { "pages": [ "gene" ], "id": "HGNC:29263" }, { "id": "RGD:1348140" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARRDC3-AS1", "geneSynopsis": "INTERACTS WITH aflatoxin B1; bis(2-ethylhexyl) phthalate; bisphenol A", "soTermId": "SO:0001263", "name": "ARRDC3 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "uc.168" ], "secondaryIds": [ "RGD:6768919" ], "genomeLocations": [ { "strand": "+", "endPosition": 91690788, "chromosome": "5", "assembly": "GRCh38", "startPosition": 91380347 } ], "primaryId": "HGNC:44145", "crossReferences": [ { "id": "ENSEMBL:ENSG00000281357" }, { "id": "NCBI_Gene:100129716" }, { "pages": [ "gene/references" ], "id": "RGD:6768919" }, { "pages": [ "gene" ], "id": "HGNC:44145" }, { "id": "RGD:6768919" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARRDC4", "geneSynopsis": "Enables ubiquitin-like ligase-substrate adaptor activity. Involved in positive regulation of interferon-beta production and protein K63-linked ubiquitination. Acts upstream of or within positive regulation of ubiquitin-protein transferase activity. Located in endosome and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "arrestin domain containing 4", "basicGeneticEntity": { "synonyms": [ "FLJ36045", "arrestin domain-containing protein 4" ], "secondaryIds": [ "RGD:1323388" ], "genomeLocations": [ { "strand": "+", "endPosition": 97973838, "chromosome": "15", "assembly": "GRCh38", "startPosition": 97960703 } ], "primaryId": "HGNC:28087", "crossReferences": [ { "id": "ENSEMBL:ENSG00000140450" }, { "id": "NCBI_Gene:91947" }, { "id": "PANTHER:PTHR11188" }, { "id": "UniProtKB:Q8NCT1" }, { "pages": [ "gene/references" ], "id": "RGD:1323388" }, { "pages": [ "gene" ], "id": "HGNC:28087" }, { "id": "RGD:1323388" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARRDC5", "geneSynopsis": "Predicted to be involved in protein transport and spermatogenesis. Predicted to be located in membrane. Predicted to be active in endosome and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "arrestin domain containing 5", "basicGeneticEntity": { "synonyms": [ "arrestin domain-containing protein 5" ], "secondaryIds": [ "RGD:1353583" ], "genomeLocations": [ { "strand": "-", "endPosition": 4916820, "chromosome": "19", "assembly": "GRCh38", "startPosition": 4890437 } ], "primaryId": "HGNC:31407", "crossReferences": [ { "id": "ENSEMBL:ENSG00000205784" }, { "id": "NCBI_Gene:645432" }, { "id": "PANTHER:PTHR11188" }, { "id": "UniProtKB:A6NEK1" }, { "pages": [ "gene/references" ], "id": "RGD:1353583" }, { "pages": [ "gene" ], "id": "HGNC:31407" }, { "id": "RGD:1353583" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARSA", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "arylsulfatase A", "basicGeneticEntity": { "synonyms": [ "ASA", "MLD", "cerebroside-sulfatase" ], "secondaryIds": [ "RGD:1321256" ], "genomeLocations": [ { "strand": "-", "endPosition": 50628177, "chromosome": "22", "assembly": "GRCh38", "startPosition": 50622754 } ], "primaryId": "HGNC:713", "crossReferences": [ { "id": "ENSEMBL:ENSG00000100299" }, { "id": "NCBI_Gene:410" }, { "id": "PANTHER:PTHR42693" }, { "id": "UniProtKB:P15289" }, { "pages": [ "gene/references" ], "id": "RGD:1321256" }, { "pages": [ "gene" ], "id": "HGNC:713" }, { "id": "RGD:1321256" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARSB", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "arylsulfatase B", "basicGeneticEntity": { "synonyms": [ "ASB", "G4S", "MPS6", "N-acetylgalactosamine-4-sulfatase" ], "secondaryIds": [ "RGD:737370" ], "genomeLocations": [ { "strand": "-", "endPosition": 78986087, "chromosome": "5", "assembly": "GRCh38", "startPosition": 78777209 } ], "primaryId": "HGNC:714", "crossReferences": [ { "id": "ENSEMBL:ENSG00000113273" }, { "id": "NCBI_Gene:411" }, { "id": "PANTHER:PTHR10342" }, { "id": "UniProtKB:P15848" }, { "pages": [ "gene/references" ], "id": "RGD:737370" }, { "pages": [ "gene" ], "id": "HGNC:714" }, { "id": "RGD:737370" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARSD", "geneSynopsis": "The protein encoded by this gene is a member of the sulfatase family. Sulfatases are essential for the correct composition of bone and cartilage matrix. The encoded protein is postranslationally glycosylated and localized to the lysosome. This gene is located within a cluster of similar arylsulfatase genes on chromosome X. A related pseudogene has been identified in the pseudoautosomal region of chromosome Y. [provided by RefSeq, Jul 2011]", "soTermId": "SO:0001217", "name": "arylsulfatase D", "basicGeneticEntity": { "synonyms": [ "ASD", "testis tissue sperm-binding protein Li 39a" ], "secondaryIds": [ "RGD:1353523" ], "genomeLocations": [ { "strand": "-", "endPosition": 2929405, "chromosome": "X", "assembly": "GRCh38", "startPosition": 2903972 } ], "primaryId": "HGNC:717", "crossReferences": [ { "id": "ENSEMBL:ENSG00000006756" }, { "id": "NCBI_Gene:414" }, { "id": "PANTHER:PTHR42693" }, { "id": "UniProtKB:P51689" }, { "pages": [ "gene/references" ], "id": "RGD:1353523" }, { "pages": [ "gene" ], "id": "HGNC:717" }, { "id": "RGD:1353523" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARSD-AS1", "soTermId": "SO:0001263", "name": "ARSD antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:5488918" ], "genomeLocations": [ { "strand": "+", "endPosition": 2906122, "chromosome": "X", "assembly": "GRCh38", "startPosition": 2904904 } ], "primaryId": "HGNC:40085", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229851" }, { "id": "NCBI_Gene:100506356" }, { "pages": [ "gene/references" ], "id": "RGD:5488918" }, { "pages": [ "gene" ], "id": "HGNC:40085" }, { "id": "RGD:5488918" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARSDP1", "soTermId": "SO:0000336", "name": "arylsulfatase D pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ARSDP", "ARSDY1" ], "secondaryIds": [ "RGD:1343522" ], "genomeLocations": [ { "strand": "+", "endPosition": 12387328, "chromosome": "Y", "assembly": "GRCh38", "startPosition": 12354037 } ], "primaryId": "HGNC:718", "crossReferences": [ { "id": "ENSEMBL:ENSG00000225117" }, { "id": "NCBI_Gene:10034" }, { "pages": [ "gene/references" ], "id": "RGD:1343522" }, { "pages": [ "gene" ], "id": "HGNC:718" }, { "id": "RGD:1343522" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARSF", "geneSynopsis": "This gene is a member of the sulfatase family, and more specifically, the arylsulfatase subfamily. Members of the subfamily share similarity in sequence and splice sites, and are clustered together on chromosome X, suggesting that they are derived from recent gene duplication events. Sulfatases are essential for the correct composition of bone and cartilage matrix. The activity of this protein, unlike that of arylsulfatase E, is not inhibited by warfarin. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jan 2011]", "soTermId": "SO:0001217", "name": "arylsulfatase F", "basicGeneticEntity": { "synonyms": [ "ASF" ], "secondaryIds": [ "RGD:1344739" ], "genomeLocations": [ { "strand": "+", "endPosition": 3112822, "chromosome": "X", "assembly": "GRCh38", "startPosition": 3040234 } ], "primaryId": "HGNC:721", "crossReferences": [ { "id": "ENSEMBL:ENSG00000062096" }, { "id": "NCBI_Gene:416" }, { "id": "PANTHER:PTHR42693" }, { "id": "UniProtKB:P54793" }, { "pages": [ "gene/references" ], "id": "RGD:1344739" }, { "pages": [ "gene" ], "id": "HGNC:721" }, { "id": "RGD:1344739" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARSFP1", "soTermId": "SO:0000336", "name": "arylsulfatase F pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ARSFP" ], "secondaryIds": [ "RGD:1353090" ], "genomeLocations": [ { "strand": "-", "endPosition": 12258035, "chromosome": "Y", "assembly": "GRCh38", "startPosition": 12252200 } ], "primaryId": "HGNC:722", "crossReferences": [ { "id": "ENSEMBL:ENSG00000232226" }, { "id": "NCBI_Gene:23757" }, { "pages": [ "gene/references" ], "id": "RGD:1353090" }, { "pages": [ "gene" ], "id": "HGNC:722" }, { "id": "RGD:1353090" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARSG", "geneSynopsis": "The protein encoded by this gene belongs to the sulfatase enzyme family. Sulfatases hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules. This protein displays arylsulfatase activity at acidic pH, as is typical of lysosomal sulfatases, and has been shown to localize in the lysosomes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]", "soTermId": "SO:0001217", "name": "arylsulfatase G", "basicGeneticEntity": { "synonyms": [ "ASG", "KIAA1001", "N-sulfoglucosamine-3-sulfatase", "USH4" ], "secondaryIds": [ "RGD:1602225" ], "genomeLocations": [ { "strand": "+", "endPosition": 68452019, "chromosome": "17", "assembly": "GRCh38", "startPosition": 68259170 } ], "primaryId": "HGNC:24102", "crossReferences": [ { "id": "ENSEMBL:ENSG00000141337" }, { "id": "NCBI_Gene:22901" }, { "id": "PANTHER:PTHR42693" }, { "id": "UniProtKB:Q96EG1" }, { "pages": [ "gene/references" ], "id": "RGD:1602225" }, { "pages": [ "gene" ], "id": "HGNC:24102" }, { "id": "RGD:1602225" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARSH", "geneSynopsis": "Sulfatases, such as ARSH, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "arylsulfatase family member H", "basicGeneticEntity": { "synonyms": [ "ASH", "arylsulfatase H", "arylsulfatase family, member H", "sulfatase" ], "secondaryIds": [ "RGD:1605805" ], "genomeLocations": [ { "strand": "+", "endPosition": 3034111, "chromosome": "X", "assembly": "GRCh38", "startPosition": 3006546 } ], "primaryId": "HGNC:32488", "crossReferences": [ { "id": "ENSEMBL:ENSG00000205667" }, { "id": "NCBI_Gene:347527" }, { "id": "PANTHER:PTHR42693" }, { "id": "UniProtKB:Q5FYA8" }, { "pages": [ "gene/references" ], "id": "RGD:1605805" }, { "pages": [ "gene" ], "id": "HGNC:32488" }, { "id": "RGD:1605805" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARSI", "geneSynopsis": "This gene encodes a protein that belongs to a large family of sulfatases that hydrolyze sulfate esters and sulfamates. Members of this family play a role in several cellular processes, including hormone synthesis, cell signaling in development and degradation of macromolecules. The protein encoded by this gene is thought to be secreted, and to function in extracellular space. [provided by RefSeq, Jul 2016]", "soTermId": "SO:0001217", "name": "arylsulfatase family member I", "basicGeneticEntity": { "synonyms": [ "ASI", "FLJ16069", "SPG66", "arylsulfatase I", "arylsulfatase family, member I" ], "secondaryIds": [ "RGD:1604953" ], "genomeLocations": [ { "strand": "-", "endPosition": 150339307, "chromosome": "5", "assembly": "GRCh38", "startPosition": 150296343 } ], "primaryId": "HGNC:32521", "crossReferences": [ { "id": "ENSEMBL:ENSG00000183876" }, { "id": "NCBI_Gene:340075" }, { "id": "PANTHER:PTHR10342" }, { "id": "UniProtKB:Q5FYB1" }, { "pages": [ "gene/references" ], "id": "RGD:1604953" }, { "pages": [ "gene" ], "id": "HGNC:32521" }, { "id": "RGD:1604953" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARSJ", "geneSynopsis": "Sulfatases (EC 3.1.5.6), such as ARSJ, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "arylsulfatase family member J", "basicGeneticEntity": { "synonyms": [ "ASJ", "FLJ23548", "arylsulfatase J", "arylsulfatase family, member J" ], "secondaryIds": [ "RGD:1606235" ], "genomeLocations": [ { "strand": "-", "endPosition": 113979727, "chromosome": "4", "assembly": "GRCh38", "startPosition": 113900284 } ], "primaryId": "HGNC:26286", "crossReferences": [ { "id": "ENSEMBL:ENSG00000180801" }, { "id": "NCBI_Gene:79642" }, { "id": "PANTHER:PTHR10342" }, { "id": "UniProtKB:Q5FYB0" }, { "pages": [ "gene/references" ], "id": "RGD:1606235" }, { "pages": [ "gene" ], "id": "HGNC:26286" }, { "id": "RGD:1606235" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARSJ-DT", "soTermId": "SO:0001263", "name": "ARSJ divergent transcript", "basicGeneticEntity": { "synonyms": [ "LOC107986305", "uncharacterized LOC107986305" ], "secondaryIds": [ "RGD:38608398" ], "genomeLocations": [ { "strand": "+", "endPosition": 113981528, "chromosome": "4", "assembly": "GRCh38", "startPosition": 113979813 } ], "primaryId": "HGNC:58874", "crossReferences": [ { "id": "ENSEMBL:ENSG00000310222" }, { "id": "NCBI_Gene:107986305" }, { "pages": [ "gene/references" ], "id": "RGD:38608398" }, { "pages": [ "gene" ], "id": "HGNC:58874" }, { "id": "RGD:38608398" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARSK", "geneSynopsis": "Sulfatases (EC 3.1.5.6), such as ARSK, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "arylsulfatase family member K", "basicGeneticEntity": { "synonyms": [ "ASK", "DKFZp313G1735", "MPS10", "TSULF", "arylsulfatase K", "arylsulfatase family, member K", "glucuronate-2-sulfatase", "telethon sulfatase" ], "secondaryIds": [ "RGD:1606445" ], "genomeLocations": [ { "strand": "+", "endPosition": 95605102, "chromosome": "5", "assembly": "GRCh38", "startPosition": 95555101 } ], "primaryId": "HGNC:25239", "crossReferences": [ { "id": "ENSEMBL:ENSG00000164291" }, { "id": "NCBI_Gene:153642" }, { "id": "PANTHER:PTHR46615" }, { "id": "UniProtKB:Q6UWY0" }, { "pages": [ "gene/references" ], "id": "RGD:1606445" }, { "pages": [ "gene" ], "id": "HGNC:25239" }, { "id": "RGD:1606445" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARSL", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "arylsulfatase L", "basicGeneticEntity": { "synonyms": [ "ARSE", "ASE", "CDPX", "CDPX1", "CDPXR", "MGC163310", "arylsulfatase E", "arylsulfatase E (chondrodysplasia punctata 1)", "chondrodysplasia punctata 1" ], "secondaryIds": [ "RGD:1312633" ], "genomeLocations": [ { "strand": "-", "endPosition": 2968475, "chromosome": "X", "assembly": "GRCh38", "startPosition": 2934045 } ], "primaryId": "HGNC:719", "crossReferences": [ { "id": "ENSEMBL:ENSG00000157399" }, { "id": "NCBI_Gene:415" }, { "id": "PANTHER:PTHR42693" }, { "id": "UniProtKB:P51690" }, { "pages": [ "gene/references" ], "id": "RGD:1312633" }, { "pages": [ "gene" ], "id": "HGNC:719" }, { "id": "RGD:1312633" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARSLP1", "soTermId": "SO:0000336", "name": "arylsulfatase L pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ARSEP", "ARSEP1", "arylsulfatase E pseudogene 1" ], "secondaryIds": [ "RGD:1344063" ], "genomeLocations": [ { "strand": "+", "endPosition": 12347692, "chromosome": "Y", "assembly": "GRCh38", "startPosition": 12332071 } ], "primaryId": "HGNC:720", "crossReferences": [ { "id": "ENSEMBL:ENSG00000224060" }, { "id": "NCBI_Gene:10033" }, { "pages": [ "gene/references" ], "id": "RGD:1344063" }, { "pages": [ "gene" ], "id": "HGNC:720" }, { "id": "RGD:1344063" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ART1", "geneSynopsis": "ADP-ribosyltransferase catalyzes the ADP-ribosylation of arginine residues in proteins. Mono-ADP-ribosylation is a posttranslational modification of proteins that is interfered with by a variety of bacterial toxins including cholera, pertussis, and heat-labile enterotoxins of E. coli. The amino acid sequence consists of predominantly hydrophobic N- and C-terminal regions, which is characteristic of glycosylphosphatidylinositol (GPI)-anchored proteins. This gene was previously designated ART2. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ADP-ribosyltransferase 1", "basicGeneticEntity": { "synonyms": [ "ADP-ribosyltransferase 2", "ADP-ribosyltransferase C2 and C3 toxin-like 1", "ART2", "ARTC1", "CD296", "GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1", "MGC133217", "RT6", "mono(ADP-ribosyl)transferase 1" ], "secondaryIds": [ "RGD:1312119" ], "genomeLocations": [ { "strand": "+", "endPosition": 3668548, "chromosome": "11", "assembly": "GRCh38", "startPosition": 3645115 } ], "primaryId": "HGNC:723", "crossReferences": [ { "id": "ENSEMBL:ENSG00000129744" }, { "id": "NCBI_Gene:417" }, { "id": "PANTHER:PTHR10339" }, { "id": "UniProtKB:P52961" }, { "pages": [ "gene/references" ], "id": "RGD:1312119" }, { "pages": [ "gene" ], "id": "HGNC:723" }, { "id": "RGD:1312119" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ART2BP", "soTermId": "SO:0000336", "name": "ADP-ribosyltransferase 2B, pseudogene", "basicGeneticEntity": { "synonyms": [ "ARTC2BP" ], "secondaryIds": [ "RGD:10399814" ], "genomeLocations": [ { "strand": "+", "endPosition": 72479237, "chromosome": "11", "assembly": "GRCh38", "startPosition": 72478221 } ], "primaryId": "HGNC:51489", "crossReferences": [ { "id": "ENSEMBL:ENSG00000237408" }, { "id": "NCBI_Gene:106481723" }, { "pages": [ "gene/references" ], "id": "RGD:10399814" }, { "pages": [ "gene" ], "id": "HGNC:51489" }, { "id": "RGD:10399814" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ART2P", "geneSynopsis": "Predicted to enable NAD+-protein-arginine ADP-ribosyltransferase activity and hydrolase activity, acting on glycosyl bonds. Predicted to be involved in NAD catabolic process. Predicted to be located in external side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0000336", "name": "ADP-ribosyltransferase 2, pseudogene", "basicGeneticEntity": { "synonyms": [ "ART1P", "ARTC2AP", "RT6" ], "secondaryIds": [ "RGD:1350034" ], "genomeLocations": [ { "strand": "+", "endPosition": 72521733, "chromosome": "11", "assembly": "GRCh38", "startPosition": 72519986 } ], "primaryId": "HGNC:724", "crossReferences": [ { "id": "ENSEMBL:ENSG00000238048" }, { "id": "NCBI_Gene:418" }, { "pages": [ "gene/references" ], "id": "RGD:1350034" }, { "pages": [ "gene" ], "id": "HGNC:724" }, { "id": "RGD:1350034" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ART3", "geneSynopsis": "This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]", "soTermId": "SO:0001217", "name": "ADP-ribosyltransferase 3 (inactive)", "basicGeneticEntity": { "synonyms": [ "ADP-ribosyltransferase 3", "ADP-ribosyltransferase C2 and C3 toxin-like 3", "ARTC3", "FLJ26404", "NAD(P)(+)--arginine ADP-ribosyltransferase 3", "ecto-ADP-ribosyltransferase 3", "mono(ADP-ribosyl)transferase 3", "mono-ADP-ribosyltransferase" ], "secondaryIds": [ "RGD:1320437" ], "genomeLocations": [ { "strand": "+", "endPosition": 76114094, "chromosome": "4", "assembly": "GRCh38", "startPosition": 76011184 } ], "primaryId": "HGNC:725", "crossReferences": [ { "id": "ENSEMBL:ENSG00000156219" }, { "id": "NCBI_Gene:419" }, { "id": "PANTHER:PTHR10339" }, { "id": "UniProtKB:Q13508" }, { "pages": [ "gene/references" ], "id": "RGD:1320437" }, { "pages": [ "gene" ], "id": "HGNC:725" }, { "id": "RGD:1320437" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ART4", "geneSynopsis": "This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ADP-ribosyltransferase 4 (inactive) (Dombrock blood group)", "basicGeneticEntity": { "synonyms": [ "ADP-ribosyltransferase 4 (DO blood group)", "ADP-ribosyltransferase 4 (Dombrock blood group)", "ADP-ribosyltransferase C2 and C3 toxin-like 4", "ARTC4", "CD297", "DO", "DO/ART4", "DOK1", "Do glycoprotein", "Dombrock blood group carrier molecule", "Dombrock glycoprotein", "NAD(+)--protein-arginine ADP-ribosyltransferase 4", "NAD(P)(+)--arginine ADP-ribosyltransferase 4", "dombrock blood group", "ecto-ADP-ribosyltransferase 4", "mono(ADP-ribosyl)transferase 4", "mono-ADP-ribosyltransferase 4" ], "secondaryIds": [ "RGD:1315084" ], "genomeLocations": [ { "strand": "-", "endPosition": 14843526, "chromosome": "12", "assembly": "GRCh38", "startPosition": 14825569 } ], "primaryId": "HGNC:726", "crossReferences": [ { "id": "ENSEMBL:ENSG00000111339" }, { "id": "NCBI_Gene:420" }, { "id": "PANTHER:PTHR10339" }, { "id": "UniProtKB:Q93070" }, { "pages": [ "gene/references" ], "id": "RGD:1315084" }, { "pages": [ "gene" ], "id": "HGNC:726" }, { "id": "RGD:1315084" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ART5", "geneSynopsis": "The protein encoded by this gene belongs to the ARG-specific ADP-ribosyltransferase family. Proteins in this family regulate the function of target proteins by attaching ADP-ribose to specific amino acid residues in their target proteins. The mouse homolog lacks a glycosylphosphatidylinositol-anchor signal sequence and is predicted to be a secretory enzyme. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]", "soTermId": "SO:0001217", "name": "ADP-ribosyltransferase 5", "basicGeneticEntity": { "synonyms": [ "ADP-ribosyltransferase C2 and C3 toxin-like 5", "ARTC5", "MGC22848", "NAD(P)(+)--arginine ADP-ribosyltransferase 5", "ecto-ADP-ribosyltransferase 5", "mono(ADP-ribosyl)transferase 5" ], "secondaryIds": [ "RGD:1347628" ], "genomeLocations": [ { "strand": "-", "endPosition": 3643187, "chromosome": "11", "assembly": "GRCh38", "startPosition": 3638503 } ], "primaryId": "HGNC:24049", "crossReferences": [ { "id": "ENSEMBL:ENSG00000167311" }, { "id": "NCBI_Gene:116969" }, { "id": "PANTHER:PTHR10339" }, { "id": "UniProtKB:Q96L15" }, { "pages": [ "gene/references" ], "id": "RGD:1347628" }, { "pages": [ "gene" ], "id": "HGNC:24049" }, { "id": "RGD:1347628" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARTN", "geneSynopsis": "This gene encodes a secreted ligand of the glial cell line-derived neurotrophic factor (GDNF) subfamily and 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 each subunit of the disulfide-linked homodimer. This protein signals through the RET receptor and GFR alpha 3 coreceptor, and supports the survival of a number of peripheral neuron populations and at least one population of dopaminergic CNS neurons. This protein has also been shown to promote tumor growth, metastasis, and drug resistance in mammary carcinoma. [provided by RefSeq, Aug 2016]", "soTermId": "SO:0001217", "name": "artemin", "basicGeneticEntity": { "synonyms": [ "ART", "ENOVIN", "EVN", "NBN", "neublastin", "neurotrophic factor" ], "secondaryIds": [ "RGD:1347630" ], "genomeLocations": [ { "strand": "+", "endPosition": 43937244, "chromosome": "1", "assembly": "GRCh38", "startPosition": 43933320 } ], "primaryId": "HGNC:727", "crossReferences": [ { "id": "ENSEMBL:ENSG00000117407" }, { "id": "NCBI_Gene:9048" }, { "id": "PANTHER:PTHR12173" }, { "id": "UniProtKB:Q5T4W7" }, { "pages": [ "gene/references" ], "id": "RGD:1347630" }, { "pages": [ "gene" ], "id": "HGNC:727" }, { "id": "RGD:1347630" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARV1", "geneSynopsis": "this gene encodes a transmembrane protein that contains a conserved zinc ribbon motif at the N- terminus. A similar protein in mouse is thought to function in fatty acid homeostasis. Mutations in this gene are associated with early infantile epileptic encephalopathy 38. [provided by RefSeq, Nov 2016]", "soTermId": "SO:0001217", "name": "ARV1 fatty acid homeostasis modulator", "basicGeneticEntity": { "synonyms": [ "ARV1 fatty acid homeostatsis modulator", "ARV1 homolog", "ARV1 homolog, fatty acid homeostasis modulator", "ARV1 homolog, fatty acid homeostatsis modulator", "DEE38", "EIEE38", "hARV1" ], "secondaryIds": [ "RGD:1349198" ], "genomeLocations": [ { "strand": "+", "endPosition": 231000733, "chromosome": "1", "assembly": "GRCh38", "startPosition": 230978981 } ], "primaryId": "HGNC:29561", "crossReferences": [ { "id": "ENSEMBL:ENSG00000173409" }, { "id": "NCBI_Gene:64801" }, { "id": "PANTHER:PTHR14467" }, { "id": "UniProtKB:Q9H2C2" }, { "pages": [ "gene/references" ], "id": "RGD:1349198" }, { "pages": [ "gene" ], "id": "HGNC:29561" }, { "id": "RGD:1349198" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARVCF", "geneSynopsis": "Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010]", "soTermId": "SO:0001217", "name": "ARVCF delta catenin family member", "basicGeneticEntity": { "synonyms": [ "ARVCF, delta catenin family member", "FLJ35345", "armadillo repeat gene deleted in velocardiofacial syndrome", "armadillo repeat protein deleted in velo-cardio-facial syndrome", "splicing regulator ARVCF" ], "secondaryIds": [ "RGD:1315392" ], "genomeLocations": [ { "strand": "-", "endPosition": 20016823, "chromosome": "22", "assembly": "GRCh38", "startPosition": 19965134 } ], "primaryId": "HGNC:728", "crossReferences": [ { "id": "ENSEMBL:ENSG00000099889" }, { "id": "NCBI_Gene:421" }, { "id": "PANTHER:PTHR10372" }, { "id": "UniProtKB:O00192" }, { "pages": [ "gene/references" ], "id": "RGD:1315392" }, { "pages": [ "gene" ], "id": "HGNC:728" }, { "id": "RGD:1315392" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ARX", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "aristaless related homeobox", "basicGeneticEntity": { "synonyms": [ "CT121", "EIEE1", "ISSX", "MRX29", "MRX32", "MRX33", "MRX36", "MRX38", "MRX43", "MRX54", "MRX76", "MRX87", "MRXS1", "PRTS", "aristaless-related homeobox", "aristaless-related homeobox, X-linked", "cancer/testis antigen 121", "homeobox protein ARX", "mental retardation, X-linked 29", "mental retardation, X-linked 32", "mental retardation, X-linked 33", "mental retardation, X-linked 36", "mental retardation, X-linked 38", "mental retardation, X-linked 43", "mental retardation, X-linked 54", "mental retardation, X-linked 76" ], "secondaryIds": [ "RGD:1344380" ], "genomeLocations": [ { "strand": "-", "endPosition": 25016420, "chromosome": "X", "assembly": "GRCh38", "startPosition": 25003694 } ], "primaryId": "HGNC:18060", "crossReferences": [ { "id": "ENSEMBL:ENSG00000004848" }, { "id": "NCBI_Gene:170302" }, { "id": "PANTHER:PTHR24329" }, { "id": "UniProtKB:Q96QS3" }, { "pages": [ "gene/references" ], "id": "RGD:1344380" }, { "pages": [ "gene" ], "id": "HGNC:18060" }, { "id": "RGD:1344380" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AS3MT", "geneSynopsis": "AS3MT catalyzes the transfer of a methyl group from S-adenosyl-L-methionine (AdoMet) to trivalent arsenical and may play a role in arsenic metabolism (Lin et al., 2002 [PubMed 11790780]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "arsenite methyltransferase", "basicGeneticEntity": { "synonyms": [ "2310045H08Rik", "CYT19", "RP11-753C18.6", "S-adenosyl-L-methionine:arsenic(III) methyltransferase", "S-adenosylmethionine:arsenic (III) methyltransferase", "arsenic (+3 oxidation state) methyltransferase", "arsenite methyltransferase isoform", "methylarsonite methyltransferase", "methyltransferase cyt19" ], "secondaryIds": [ "RGD:1350697" ], "genomeLocations": [ { "strand": "+", "endPosition": 102901899, "chromosome": "10", "assembly": "GRCh38", "startPosition": 102869470 } ], "primaryId": "HGNC:17452", "crossReferences": [ { "id": "ENSEMBL:ENSG00000214435" }, { "id": "NCBI_Gene:57412" }, { "id": "PANTHER:PTHR43675" }, { "id": "UniProtKB:Q9HBK9" }, { "pages": [ "gene/references" ], "id": "RGD:1350697" }, { "pages": [ "gene" ], "id": "HGNC:17452" }, { "id": "RGD:1350697" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASAH1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "N-acylsphingosine amidohydrolase 1", "basicGeneticEntity": { "synonyms": [ "AC", "ACDase", "ASAH", "FLJ21558", "FLJ22079", "N-acylethanolamine hydrolase ASAH1", "N-acylsphingosine amidohydrolase (acid ceramidase) 1", "PHP", "PHP32", "SMAPME", "acid CDase", "acid ceramidase", "acylsphingosine deacylase", "glycosylceramide deacylase", "n-acylsphingosine amidohydrolase (acid ceramidase)", "putative 32 kDa heart protein" ], "secondaryIds": [ "RGD:734135" ], "genomeLocations": [ { "strand": "-", "endPosition": 18084998, "chromosome": "8", "assembly": "GRCh38", "startPosition": 18055992 } ], "primaryId": "HGNC:735", "crossReferences": [ { "id": "ENSEMBL:ENSG00000104763" }, { "id": "NCBI_Gene:427" }, { "id": "PANTHER:PTHR28583" }, { "id": "UniProtKB:Q13510" }, { "pages": [ "gene/references" ], "id": "RGD:734135" }, { "pages": [ "gene" ], "id": "HGNC:735" }, { "id": "RGD:734135" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASAH1-AS1", "geneSynopsis": "INTERACTS WITH okadaic acid; sotorasib; trametinib", "soTermId": "SO:0001263", "name": "ASAH1 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AC124242.1", "LOC101929066", "uncharacterized LOC101929066" ], "secondaryIds": [ "RGD:16557951" ], "genomeLocations": [ { "strand": "+", "endPosition": 18127404, "chromosome": "8", "assembly": "GRCh38", "startPosition": 18084236 } ], "primaryId": "HGNC:55603", "crossReferences": [ { "id": "ENSEMBL:ENSG00000245281" }, { "id": "NCBI_Gene:101929066" }, { "pages": [ "gene/references" ], "id": "RGD:16557951" }, { "pages": [ "gene" ], "id": "HGNC:55603" }, { "id": "RGD:16557951" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASAH2", "geneSynopsis": "Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "N-acylsphingosine amidohydrolase 2", "basicGeneticEntity": { "synonyms": [ "BCDase", "HNAC1", "LCDase", "MGC129777", "N-CDase", "N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2", "NCDase", "acylsphingosine deacylase 2", "hCD", "mitochondrial ceramidase", "neutral ceramidase", "neutral/alkaline ceramidase", "non-lysosomal ceramidase" ], "secondaryIds": [ "RGD:1605058" ], "genomeLocations": [ { "strand": "-", "endPosition": 50279720, "chromosome": "10", "assembly": "GRCh38", "startPosition": 50182778 } ], "primaryId": "HGNC:18860", "crossReferences": [ { "id": "ENSEMBL:ENSG00000188611" }, { "id": "NCBI_Gene:56624" }, { "id": "PANTHER:PTHR12670" }, { "id": "UniProtKB:Q9NR71" }, { "pages": [ "gene/references" ], "id": "RGD:1605058" }, { "pages": [ "gene" ], "id": "HGNC:18860" }, { "id": "RGD:1605058" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASAH2B", "geneSynopsis": "Predicted to enable N-acylsphingosine amidohydrolase activity. Predicted to be involved in ceramide catabolic process. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "N-acylsphingosine amidohydrolase 2B", "basicGeneticEntity": { "synonyms": [ "ASAH2-like protein", "ASAH2C", "ASAH2L", "N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B", "bA449O16.3", "bA98I6.3", "putative inactive N-acylsphingosine amidohydrolase 2B", "putative inactive neutral ceramidase B", "putative inactive non-lysosomal ceramidase B" ], "secondaryIds": [ "RGD:1347222" ], "genomeLocations": [ { "strand": "+", "endPosition": 50816495, "chromosome": "10", "assembly": "GRCh38", "startPosition": 50739318 } ], "primaryId": "HGNC:23456", "crossReferences": [ { "id": "ENSEMBL:ENSG00000204147" }, { "id": "NCBI_Gene:653308" }, { "id": "PANTHER:PTHR12670" }, { "id": "UniProtKB:P0C7U1" }, { "pages": [ "gene/references" ], "id": "RGD:1347222" }, { "pages": [ "gene" ], "id": "HGNC:23456" }, { "id": "RGD:1347222" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASAP1", "geneSynopsis": "This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]", "soTermId": "SO:0001217", "name": "ArfGAP with SH3 domain, ankyrin repeat and PH domain 1", "basicGeneticEntity": { "synonyms": [ "130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein", "130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating protein", "ADP-ribosylation factor-directed GTPase-activating protein 1", "AMAP1", "ARF GTPase-activating protein 1", "CENTB4", "DDEF1", "DEF-1", "KIAA1249", "PAG2", "PAP", "PIP2-dependent ARF1 GAP", "ZG14P", "arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1", "centaurin, beta 4", "development and differentiation enhancing factor 1", "development and differentiation-enhancing factor 1", "differentiation-enhancing factor 1" ], "secondaryIds": [ "RGD:1354069" ], "genomeLocations": [ { "strand": "-", "endPosition": 130443762, "chromosome": "8", "assembly": "GRCh38", "startPosition": 130052104 } ], "primaryId": "HGNC:2720", "crossReferences": [ { "id": "ENSEMBL:ENSG00000153317" }, { "id": "NCBI_Gene:50807" }, { "id": "PANTHER:PTHR45854" }, { "id": "UniProtKB:Q9ULH1" }, { "pages": [ "gene/references" ], "id": "RGD:1354069" }, { "pages": [ "gene" ], "id": "HGNC:2720" }, { "id": "RGD:1354069" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASAP1-IT1", "geneSynopsis": "INTERACTS WITH 2-hydroxypropanoic acid; beta-naphthoflavone; cadmium dichloride", "soTermId": "SO:0001263", "name": "ASAP1 intronic transcript 1", "basicGeneticEntity": { "synonyms": [ "ASAP1-IT", "ASAP1IT", "ASAP1IT1", "DDEF1IT1", "HSPC054", "NCRNA00050" ], "secondaryIds": [ "RGD:1602895" ], "genomeLocations": [ { "strand": "-", "endPosition": 130296533, "chromosome": "8", "assembly": "GRCh38", "startPosition": 130295355 } ], "primaryId": "HGNC:24998", "crossReferences": [ { "id": "NCBI_Gene:29065" }, { "pages": [ "gene/references" ], "id": "RGD:1602895" }, { "pages": [ "gene" ], "id": "HGNC:24998" }, { "id": "RGD:1602895" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASAP1-IT2", "geneSynopsis": "INTERACTS WITH 2-hydroxypropanoic acid; dorsomorphin; methylmercury chloride", "soTermId": "SO:0001263", "name": "ASAP1 intronic transcript 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:7252018" ], "genomeLocations": [ { "strand": "-", "endPosition": 130084768, "chromosome": "8", "assembly": "GRCh38", "startPosition": 130082738 } ], "primaryId": "HGNC:48917", "crossReferences": [ { "id": "ENSEMBL:ENSG00000280543" }, { "id": "NCBI_Gene:100507117" }, { "pages": [ "gene/references" ], "id": "RGD:7252018" }, { "pages": [ "gene" ], "id": "HGNC:48917" }, { "id": "RGD:7252018" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASAP2", "geneSynopsis": "This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. It has catalytic activity for class I and II ArfGAPs in vitro, and can bind the class III Arf ARF6 without immediate GAP activity. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]", "soTermId": "SO:0001217", "name": "ArfGAP with SH3 domain, ankyrin repeat and PH domain 2", "basicGeneticEntity": { "synonyms": [ "AMAP2", "CENTB3", "DDEF2", "FLJ42910", "KIAA0400", "PAG3", "PAP", "PYK2 C terminus-associated protein", "Pap-alpha", "SHAG1", "arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2", "centaurin, beta 3", "development and differentiation enhancing factor 2", "development and differentiation-enhancing factor 2", "paxillin-associated protein with ARF GAP activity 3", "pyk2 C-terminus-associated protein" ], "secondaryIds": [ "RGD:1313189" ], "genomeLocations": [ { "strand": "+", "endPosition": 9405683, "chromosome": "2", "assembly": "GRCh38", "startPosition": 9206758 } ], "primaryId": "HGNC:2721", "crossReferences": [ { "id": "ENSEMBL:ENSG00000151693" }, { "id": "NCBI_Gene:8853" }, { "id": "PANTHER:PTHR45854" }, { "id": "UniProtKB:O43150" }, { "pages": [ "gene/references" ], "id": "RGD:1313189" }, { "pages": [ "gene" ], "id": "HGNC:2721" }, { "id": "RGD:1313189" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASAP3", "geneSynopsis": "This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]", "soTermId": "SO:0001217", "name": "ArfGAP with SH3 domain, ankyrin repeat and PH domain 3", "basicGeneticEntity": { "synonyms": [ "ACAP4", "ARF6 GTPase-activating protein", "ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 1", "CENTB6", "DDEFL1", "FLJ20199", "UPLC1", "arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3", "centaurin, beta 6", "development and differentiation enhancing factor-like 1", "development and differentiation-enhancing factor-like 1", "protein up-regulated in liver cancer 1", "up-regulated in liver cancer 1 (UPLC1)" ], "secondaryIds": [ "RGD:1346642" ], "genomeLocations": [ { "strand": "-", "endPosition": 23484637, "chromosome": "1", "assembly": "GRCh38", "startPosition": 23428561 } ], "primaryId": "HGNC:14987", "crossReferences": [ { "id": "ENSEMBL:ENSG00000088280" }, { "id": "ENSEMBL:ENSG00000282854" }, { "id": "NCBI_Gene:55616" }, { "id": "PANTHER:PTHR45854" }, { "id": "UniProtKB:Q8TDY4" }, { "pages": [ "gene/references" ], "id": "RGD:1346642" }, { "pages": [ "gene" ], "id": "HGNC:14987" }, { "id": "RGD:1346642" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASB1", "geneSynopsis": "The protein encoded by this gene contains an ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, targeting them for ubiquitination and degradation. [provided by RefSeq, Aug 2016]", "soTermId": "SO:0001217", "name": "ankyrin repeat and SOCS box containing 1", "basicGeneticEntity": { "synonyms": [ "ASB-1", "KIAA1146", "MGC11165", "ankyrin repeat and SOCS box protein 1", "ankyrin repeat and SOCS box-containing 1" ], "secondaryIds": [ "RGD:1321850" ], "genomeLocations": [ { "strand": "+", "endPosition": 238452250, "chromosome": "2", "assembly": "GRCh38", "startPosition": 238426742 } ], "primaryId": "HGNC:16011", "crossReferences": [ { "id": "ENSEMBL:ENSG00000065802" }, { "id": "NCBI_Gene:51665" }, { "id": "PANTHER:PTHR24173" }, { "id": "UniProtKB:Q9Y576" }, { "pages": [ "gene/references" ], "id": "RGD:1321850" }, { "pages": [ "gene" ], "id": "HGNC:16011" }, { "id": "RGD:1321850" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASB10", "geneSynopsis": "The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2008]", "soTermId": "SO:0001217", "name": "ankyrin repeat and SOCS box containing 10", "basicGeneticEntity": { "synonyms": [ "GLC1F", "ankyrin repeat and SOCS box protein 10", "ankyrin repeat and SOCS box-containing 10", "glaucoma 1, open angle, F (adult-onset)" ], "secondaryIds": [ "RGD:1353086" ], "genomeLocations": [ { "strand": "-", "endPosition": 151187832, "chromosome": "7", "assembly": "GRCh38", "startPosition": 151175695 } ], "primaryId": "HGNC:17185", "crossReferences": [ { "id": "ENSEMBL:ENSG00000146926" }, { "id": "NCBI_Gene:136371" }, { "id": "PANTHER:PTHR24193" }, { "id": "UniProtKB:Q8WXI3" }, { "pages": [ "gene/references" ], "id": "RGD:1353086" }, { "pages": [ "gene" ], "id": "HGNC:17185" }, { "id": "RGD:1353086" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASB11", "geneSynopsis": "The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]", "soTermId": "SO:0001217", "name": "ankyrin repeat and SOCS box containing 11", "basicGeneticEntity": { "synonyms": [ "ASB-11", "DKFZp779E2460", "MGC119168", "MGC119169", "ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase", "ankyrin repeat and SOCS box protein 11", "ankyrin repeat and SOCS box-containing 11", "ankyrin repeat and SOCS box-containing protein 11, isoform a", "ankyrin repeat domain-containing SOCS box protein ASB11" ], "secondaryIds": [ "RGD:1344351" ], "genomeLocations": [ { "strand": "-", "endPosition": 15315640, "chromosome": "X", "assembly": "GRCh38", "startPosition": 15281697 } ], "primaryId": "HGNC:17186", "crossReferences": [ { "id": "ENSEMBL:ENSG00000165192" }, { "id": "NCBI_Gene:140456" }, { "id": "PANTHER:PTHR24136" }, { "id": "UniProtKB:Q8WXH4" }, { "pages": [ "gene/references" ], "id": "RGD:1344351" }, { "pages": [ "gene" ], "id": "HGNC:17186" }, { "id": "RGD:1344351" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASB12", "geneSynopsis": "The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jan 2011]", "soTermId": "SO:0001217", "name": "ankyrin repeat and SOCS box containing 12", "basicGeneticEntity": { "synonyms": [ "FLJ39577", "ankyrin repeat and SOCS box protein 12", "ankyrin repeat and SOCS box-containing 12", "ankyrin repeat domain-containing SOCS box protein Asb-12" ], "secondaryIds": [ "RGD:1349928" ], "genomeLocations": [ { "strand": "-", "endPosition": 64230607, "chromosome": "X", "assembly": "GRCh38", "startPosition": 64224194 } ], "primaryId": "HGNC:19763", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198881" }, { "id": "NCBI_Gene:142689" }, { "id": "PANTHER:PTHR24136" }, { "id": "UniProtKB:Q8WXK4" }, { "pages": [ "gene/references" ], "id": "RGD:1349928" }, { "pages": [ "gene" ], "id": "HGNC:19763" }, { "id": "RGD:1349928" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASB13", "geneSynopsis": "The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants, both protein-coding and not protein-coding, have been described for this gene. [provided by RefSeq, Nov 2010]", "soTermId": "SO:0001217", "name": "ankyrin repeat and SOCS box containing 13", "basicGeneticEntity": { "synonyms": [ "FLJ13134", "MGC19879", "ankyrin repeat and SOCS box protein 13", "ankyrin repeat and SOCS box-containing 13", "ankyrin repeat domain-containing SOCS box protein Asb-13" ], "secondaryIds": [ "RGD:1321264" ], "genomeLocations": [ { "strand": "-", "endPosition": 5666615, "chromosome": "10", "assembly": "GRCh38", "startPosition": 5638857 } ], "primaryId": "HGNC:19765", "crossReferences": [ { "id": "ENSEMBL:ENSG00000196372" }, { "id": "NCBI_Gene:79754" }, { "id": "PANTHER:PTHR24136" }, { "id": "UniProtKB:Q8WXK3" }, { "pages": [ "gene/references" ], "id": "RGD:1321264" }, { "pages": [ "gene" ], "id": "HGNC:19765" }, { "id": "RGD:1321264" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASB14", "geneSynopsis": "The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2008]", "soTermId": "SO:0001217", "name": "ankyrin repeat and SOCS box containing 14", "basicGeneticEntity": { "synonyms": [ "DKFZp313L0121", "ankyrin repeat and SOCS box protein 14", "ankyrin repeat and SOCS box-containing 14", "ankyrin repeat domain-containing SOCS box protein Asb-14" ], "secondaryIds": [ "RGD:1343044" ], "genomeLocations": [ { "strand": "-", "endPosition": 57292685, "chromosome": "3", "assembly": "GRCh38", "startPosition": 57268342 } ], "primaryId": "HGNC:19766", "crossReferences": [ { "id": "ENSEMBL:ENSG00000239388" }, { "id": "NCBI_Gene:142686" }, { "id": "PANTHER:PTHR24198" }, { "id": "UniProtKB:A6NK59" }, { "pages": [ "gene/references" ], "id": "RGD:1343044" }, { "pages": [ "gene" ], "id": "HGNC:19766" }, { "id": "RGD:1343044" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASB15", "geneSynopsis": "This gene encodes a member of the suppressor of cytokine signaling box superfamily. The proteins in this superfamily participate in the ubiquitin-proteasome system for the degradation of proteins in the cell cycle and signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]", "soTermId": "SO:0001217", "name": "ankyrin repeat and SOCS box containing 15", "basicGeneticEntity": { "synonyms": [ "ASB-15", "DKFZp779M1258", "FLJ43370", "ankyrin repeat and SOCS box protein 15", "ankyrin repeat and SOCS box-containing 15" ], "secondaryIds": [ "RGD:1346506" ], "genomeLocations": [ { "strand": "+", "endPosition": 123639481, "chromosome": "7", "assembly": "GRCh38", "startPosition": 123567008 } ], "primaryId": "HGNC:19767", "crossReferences": [ { "id": "ENSEMBL:ENSG00000146809" }, { "id": "NCBI_Gene:142685" }, { "id": "PANTHER:PTHR24198" }, { "id": "UniProtKB:Q8WXK1" }, { "pages": [ "gene/references" ], "id": "RGD:1346506" }, { "pages": [ "gene" ], "id": "HGNC:19767" }, { "id": "RGD:1346506" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASB15-AS1", "soTermId": "SO:0001263", "name": "ASB15 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:14700568" ], "genomeLocations": [ { "strand": "-", "endPosition": 123624957, "chromosome": "7", "assembly": "GRCh38", "startPosition": 123570030 } ], "primaryId": "HGNC:40904", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230442" }, { "id": "NCBI_Gene:102724555" }, { "pages": [ "gene/references" ], "id": "RGD:14700568" }, { "pages": [ "gene" ], "id": "HGNC:40904" }, { "id": "RGD:14700568" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASB16", "geneSynopsis": "The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ankyrin repeat and SOCS box containing 16", "basicGeneticEntity": { "synonyms": [ "FLJ30165", "MGC141876", "MGC141877", "ankyrin repeat and SOCS box protein 16", "ankyrin repeat and SOCS box-containing 16", "ankyrin repeat and SOCS box-containing protein 16" ], "secondaryIds": [ "RGD:1313384" ], "genomeLocations": [ { "strand": "+", "endPosition": 44179084, "chromosome": "17", "assembly": "GRCh38", "startPosition": 44170447 } ], "primaryId": "HGNC:19768", "crossReferences": [ { "id": "ENSEMBL:ENSG00000161664" }, { "id": "NCBI_Gene:92591" }, { "id": "PANTHER:PTHR24136" }, { "id": "UniProtKB:Q96NS5" }, { "pages": [ "gene/references" ], "id": "RGD:1313384" }, { "pages": [ "gene" ], "id": "HGNC:19768" }, { "id": "RGD:1313384" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASB16-AS1", "geneSynopsis": "INTERACTS WITH acrylamide; arsane; arsenic atom", "soTermId": "SO:0001263", "name": "ASB16 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "C17orf65", "DKFZp762C2414", "MGC119234", "hypothetical protein LOC339201", "uncharacterized protein C17orf65" ], "secondaryIds": [ "RGD:1603501" ], "genomeLocations": [ { "strand": "-", "endPosition": 44187180, "chromosome": "17", "assembly": "GRCh38", "startPosition": 44157293 } ], "primaryId": "HGNC:25442", "crossReferences": [ { "id": "ENSEMBL:ENSG00000267080" }, { "id": "NCBI_Gene:339201" }, { "id": "UniProtKB:Q495Z4" }, { "pages": [ "gene/references" ], "id": "RGD:1603501" }, { "pages": [ "gene" ], "id": "HGNC:25442" }, { "id": "RGD:1603501" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASB17", "geneSynopsis": "Predicted to be involved in intracellular signal transduction and protein ubiquitination. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat and SOCS box containing 17", "basicGeneticEntity": { "synonyms": [ "Asb-17", "ankyrin repeat and SOCS box protein 17", "ankyrin repeat and SOCS box-containing 17" ], "secondaryIds": [ "RGD:1343895" ], "genomeLocations": [ { "strand": "-", "endPosition": 75932404, "chromosome": "1", "assembly": "GRCh38", "startPosition": 75918873 } ], "primaryId": "HGNC:19769", "crossReferences": [ { "id": "ENSEMBL:ENSG00000154007" }, { "id": "NCBI_Gene:127247" }, { "id": "PANTHER:PTHR20966" }, { "id": "UniProtKB:Q8WXJ9" }, { "pages": [ "gene/references" ], "id": "RGD:1343895" }, { "pages": [ "gene" ], "id": "HGNC:19769" }, { "id": "RGD:1343895" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASB18", "geneSynopsis": "The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Feb 2017]", "soTermId": "SO:0001217", "name": "ankyrin repeat and SOCS box containing 18", "basicGeneticEntity": { "synonyms": [ "ASB-18", "DKFZp313I1130", "ankyrin repeat and SOCS box protein 18", "ankyrin repeat and SOCS box-containing 18" ], "secondaryIds": [ "RGD:1602398" ], "genomeLocations": [ { "strand": "-", "endPosition": 236264409, "chromosome": "2", "assembly": "GRCh38", "startPosition": 236193459 } ], "primaryId": "HGNC:19770", "crossReferences": [ { "id": "ENSEMBL:ENSG00000182177" }, { "id": "NCBI_Gene:401036" }, { "id": "PANTHER:PTHR24198" }, { "id": "UniProtKB:Q6ZVZ8" }, { "pages": [ "gene/references" ], "id": "RGD:1602398" }, { "pages": [ "gene" ], "id": "HGNC:19770" }, { "id": "RGD:1602398" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASB2", "geneSynopsis": "This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]", "soTermId": "SO:0001217", "name": "ankyrin repeat and SOCS box containing 2", "basicGeneticEntity": { "synonyms": [ "ASB-2", "MGC40044", "ankyrin repeat and SOCS box protein 2", "ankyrin repeat and SOCS box-2 containing protein", "ankyrin repeat and SOCS box-containing protein 2a", "ankyrin repeat-containing protein ASB-2" ], "secondaryIds": [ "RGD:1315012" ], "genomeLocations": [ { "strand": "-", "endPosition": 93978831, "chromosome": "14", "assembly": "GRCh38", "startPosition": 93933783 } ], "primaryId": "HGNC:16012", "crossReferences": [ { "id": "ENSEMBL:ENSG00000100628" }, { "id": "ENSEMBL:ENSG00000278693" }, { "id": "NCBI_Gene:51676" }, { "id": "PANTHER:PTHR24198" }, { "id": "UniProtKB:Q96Q27" }, { "pages": [ "gene/references" ], "id": "RGD:1315012" }, { "pages": [ "gene" ], "id": "HGNC:16012" }, { "id": "RGD:1315012" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASB3", "geneSynopsis": "The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2011]", "soTermId": "SO:0001217", "name": "ankyrin repeat and SOCS box containing 3", "basicGeneticEntity": { "synonyms": [ "ASB-3", "FLJ10123", "FLJ10421", "MGC12531", "MGC132002", "MGC996", "ankyrin repeat and SOCS box protein 3", "ankyrin repeat and SOCS box-containing 3" ], "secondaryIds": [ "RGD:1318243" ], "genomeLocations": [ { "strand": "-", "endPosition": 53860160, "chromosome": "2", "assembly": "GRCh38", "startPosition": 53532672 } ], "primaryId": "HGNC:16013", "crossReferences": [ { "id": "ENSEMBL:ENSG00000115239" }, { "id": "NCBI_Gene:51130" }, { "id": "PANTHER:PTHR24173" }, { "id": "UniProtKB:Q9Y575" }, { "pages": [ "gene/references" ], "id": "RGD:1318243" }, { "pages": [ "gene" ], "id": "HGNC:16013" }, { "id": "RGD:1318243" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASB4", "geneSynopsis": "The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ankyrin repeat and SOCS box containing 4", "basicGeneticEntity": { "synonyms": [ "ASB-4", "MGC142039", "MGC142041", "ankyrin repeat and SOCS box protein 4", "ankyrin repeat and SOCS box-containing 4" ], "secondaryIds": [ "RGD:1348810" ], "genomeLocations": [ { "strand": "+", "endPosition": 95551317, "chromosome": "7", "assembly": "GRCh38", "startPosition": 95470656 } ], "primaryId": "HGNC:16009", "crossReferences": [ { "id": "ENSEMBL:ENSG00000005981" }, { "id": "NCBI_Gene:51666" }, { "id": "PANTHER:PTHR24171" }, { "id": "UniProtKB:Q9Y574" }, { "pages": [ "gene/references" ], "id": "RGD:1348810" }, { "pages": [ "gene" ], "id": "HGNC:16009" }, { "id": "RGD:1348810" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASB5", "geneSynopsis": "The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but their full length sequences are not known. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ankyrin repeat and SOCS box containing 5", "basicGeneticEntity": { "synonyms": [ "ASB-5", "SOCS box protein ASB-5", "ankyrin repeat and SOCS box protein 5", "ankyrin repeat and SOCS box-containing 5" ], "secondaryIds": [ "RGD:1352084" ], "genomeLocations": [ { "strand": "-", "endPosition": 176277571, "chromosome": "4", "assembly": "GRCh38", "startPosition": 176213673 } ], "primaryId": "HGNC:17180", "crossReferences": [ { "id": "ENSEMBL:ENSG00000164122" }, { "id": "NCBI_Gene:140458" }, { "id": "PANTHER:PTHR24136" }, { "id": "UniProtKB:Q8WWX0" }, { "pages": [ "gene/references" ], "id": "RGD:1352084" }, { "pages": [ "gene" ], "id": "HGNC:17180" }, { "id": "RGD:1352084" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASB6", "geneSynopsis": "The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box, similar to the F-box, acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]", "soTermId": "SO:0001217", "name": "ankyrin repeat and SOCS box containing 6", "basicGeneticEntity": { "synonyms": [ "ASB-6", "FLJ20548", "MGC1024", "ankyrin repeat and SOCS box protein 6", "ankyrin repeat and SOCS box-containing 6" ], "secondaryIds": [ "RGD:1318216" ], "genomeLocations": [ { "strand": "-", "endPosition": 129642169, "chromosome": "9", "assembly": "GRCh38", "startPosition": 129634602 } ], "primaryId": "HGNC:17181", "crossReferences": [ { "id": "ENSEMBL:ENSG00000148331" }, { "id": "NCBI_Gene:140459" }, { "id": "PANTHER:PTHR24132" }, { "id": "UniProtKB:Q9NWX5" }, { "pages": [ "gene/references" ], "id": "RGD:1318216" }, { "pages": [ "gene" ], "id": "HGNC:17181" }, { "id": "RGD:1318216" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASB6-AS1", "soTermId": "SO:0001263", "name": "ASB6 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:597621584" ], "primaryId": "HGNC:58232", "crossReferences": [ { "id": "NCBI_Gene:139355197" }, { "pages": [ "gene/references" ], "id": "RGD:597621584" }, { "pages": [ "gene" ], "id": "HGNC:58232" }, { "id": "RGD:597621584" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASB7", "geneSynopsis": "The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contains a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. In this way, SOCS box containing proteins may regulate protein turnover by targeting proteins for polyubiquination and, therefore, for proteasome-mediated degradation. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ankyrin repeat and SOCS box containing 7", "basicGeneticEntity": { "synonyms": [ "ASB-7", "FLJ22551", "FLJ25192", "ankyrin repeat and SOCS box protein 7", "ankyrin repeat and SOCS box-containing 7" ], "secondaryIds": [ "RGD:1313017" ], "genomeLocations": [ { "strand": "+", "endPosition": 100651703, "chromosome": "15", "assembly": "GRCh38", "startPosition": 100602547 } ], "primaryId": "HGNC:17182", "crossReferences": [ { "id": "ENSEMBL:ENSG00000183475" }, { "id": "NCBI_Gene:140460" }, { "id": "PANTHER:PTHR24173" }, { "id": "UniProtKB:Q9H672" }, { "pages": [ "gene/references" ], "id": "RGD:1313017" }, { "pages": [ "gene" ], "id": "HGNC:17182" }, { "id": "RGD:1313017" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASB8", "geneSynopsis": "Predicted to be involved in intracellular signal transduction and protein ubiquitination. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat and SOCS box containing 8", "basicGeneticEntity": { "synonyms": [ "ASB-8", "FLJ21255", "MGC5540", "PP14212", "ankyrin repeat and SOCS box protein 8", "ankyrin repeat and SOCS box-containing 8" ], "secondaryIds": [ "RGD:1319481" ], "genomeLocations": [ { "strand": "-", "endPosition": 48181213, "chromosome": "12", "assembly": "GRCh38", "startPosition": 48147789 } ], "primaryId": "HGNC:17183", "crossReferences": [ { "id": "ENSEMBL:ENSG00000177981" }, { "id": "NCBI_Gene:140461" }, { "id": "PANTHER:PTHR24134" }, { "id": "UniProtKB:Q9H765" }, { "pages": [ "gene/references" ], "id": "RGD:1319481" }, { "pages": [ "gene" ], "id": "HGNC:17183" }, { "id": "RGD:1319481" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASB9", "geneSynopsis": "This gene encodes a member of the ankyrin repeat and suppressor of cytokine signaling (SOCS) box protein family. Members of this family can interact with the elongin B-C adapter complex via their SOCS box domain and further complex with the cullin and ring box proteins to form E3 ubiquitin ligase complexes. They may function to mediate the substrate-recognition of the E3 ubiquitin ligases. A transcribed pseudogene of this gene has been identified on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]", "soTermId": "SO:0001217", "name": "ankyrin repeat and SOCS box containing 9", "basicGeneticEntity": { "synonyms": [ "ASB-9", "DKFZp564L0862", "FLJ20636", "MGC4954", "ankyrin repeat and SOCS box protein 9", "ankyrin repeat and SOCS box-containing 9", "ankyrin repeat and suppressor of cytokine signaling box protein 9", "testis tissue sperm-binding protein Li 57p" ], "secondaryIds": [ "RGD:1344669" ], "genomeLocations": [ { "strand": "-", "endPosition": 15270467, "chromosome": "X", "assembly": "GRCh38", "startPosition": 15235288 } ], "primaryId": "HGNC:17184", "crossReferences": [ { "id": "ENSEMBL:ENSG00000102048" }, { "id": "NCBI_Gene:140462" }, { "id": "PANTHER:PTHR24136" }, { "id": "UniProtKB:Q96DX5" }, { "pages": [ "gene/references" ], "id": "RGD:1344669" }, { "pages": [ "gene" ], "id": "HGNC:17184" }, { "id": "RGD:1344669" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASB9P1", "geneSynopsis": "INTERACTS WITH benzene-1,2,4-triol", "soTermId": "SO:0000336", "name": "ankyrin repeat and SOCS box containing 9 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:4140134" ], "genomeLocations": [ { "strand": "+", "endPosition": 92797108, "chromosome": "15", "assembly": "GRCh38", "startPosition": 92795484 } ], "primaryId": "HGNC:20972", "crossReferences": [ { "id": "ENSEMBL:ENSG00000258527" }, { "id": "NCBI_Gene:728619" }, { "pages": [ "gene/references" ], "id": "RGD:4140134" }, { "pages": [ "gene" ], "id": "HGNC:20972" }, { "id": "RGD:4140134" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASCC1", "geneSynopsis": "This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]", "soTermId": "SO:0001217", "name": "activating signal cointegrator 1 complex subunit 1", "basicGeneticEntity": { "synonyms": [ "ASC-1 complex subunit P50", "ASC1p50", "CGI-18", "RP11-150D20.4", "SMABF2", "p50", "trip4 complex subunit p50" ], "secondaryIds": [ "RGD:1350086" ], "genomeLocations": [ { "strand": "-", "endPosition": 72217653, "chromosome": "10", "assembly": "GRCh38", "startPosition": 72096018 } ], "primaryId": "HGNC:24268", "crossReferences": [ { "id": "ENSEMBL:ENSG00000138303" }, { "id": "NCBI_Gene:51008" }, { "id": "PANTHER:PTHR13360" }, { "id": "UniProtKB:Q8N9N2" }, { "pages": [ "gene/references" ], "id": "RGD:1350086" }, { "pages": [ "gene" ], "id": "HGNC:24268" }, { "id": "RGD:1350086" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASCC2", "geneSynopsis": "Enables K63-linked polyubiquitin modification-dependent protein binding activity. Involved in regulation of DNA-templated transcription; rescue of stalled ribosome; and ribosome-associated ubiquitin-dependent protein catabolic process. Located in nucleus. Part of DNA repair complex and RQC-trigger complex. Is active in cytosolic ribosome. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "activating signal cointegrator 1 complex subunit 2", "basicGeneticEntity": { "synonyms": [ "ASC 1 complex subunit P100", "ASC-1 complex subunit P100", "ASC1p100", "p100", "trip4 complex subunit p100" ], "secondaryIds": [ "RGD:1347917" ], "genomeLocations": [ { "strand": "-", "endPosition": 29838304, "chromosome": "22", "assembly": "GRCh38", "startPosition": 29788608 } ], "primaryId": "HGNC:24103", "crossReferences": [ { "id": "ENSEMBL:ENSG00000100325" }, { "id": "NCBI_Gene:84164" }, { "id": "PANTHER:PTHR21494" }, { "id": "UniProtKB:Q9H1I8" }, { "pages": [ "gene/references" ], "id": "RGD:1347917" }, { "pages": [ "gene" ], "id": "HGNC:24103" }, { "id": "RGD:1347917" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASCC3", "geneSynopsis": "This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]", "soTermId": "SO:0001217", "name": "activating signal cointegrator 1 complex subunit 3", "basicGeneticEntity": { "synonyms": [ "ASC-1 complex subunit P200", "ASC1p200", "B630009I04Rik", "DJ467N11.1", "HELIC1", "MGC26074", "MRT81", "RNA helicase family", "RNAH", "dJ121G13.4", "helicase, ATP binding 1", "p200", "trip4 complex subunit p200" ], "secondaryIds": [ "RGD:1344771" ], "genomeLocations": [ { "strand": "-", "endPosition": 100881407, "chromosome": "6", "assembly": "GRCh38", "startPosition": 100508194 } ], "primaryId": "HGNC:18697", "crossReferences": [ { "id": "ENSEMBL:ENSG00000112249" }, { "id": "NCBI_Gene:10973" }, { "id": "PANTHER:PTHR47961" }, { "id": "UniProtKB:Q8N3C0" }, { "pages": [ "gene/references" ], "id": "RGD:1344771" }, { "pages": [ "gene" ], "id": "HGNC:18697" }, { "id": "RGD:1344771" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASCL1", "geneSynopsis": "This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "achaete-scute family bHLH transcription factor 1", "basicGeneticEntity": { "synonyms": [ "ASH-1", "ASH1", "CEPA", "HASH1", "MASH1", "achaete scute protein", "achaete-scute complex homolog 1", "achaete-scute complex homolog-like 1 (drosophila)", "achaete-scute complex-like 1", "achaete-scute homolog 1", "bHLHa46", "class A basic helix-loop-helix protein 46", "congenital episodic primary apnea" ], "secondaryIds": [ "RGD:736393" ], "genomeLocations": [ { "strand": "+", "endPosition": 102960513, "chromosome": "12", "assembly": "GRCh38", "startPosition": 102957674 } ], "primaryId": "HGNC:738", "crossReferences": [ { "id": "ENSEMBL:ENSG00000139352" }, { "id": "NCBI_Gene:429" }, { "id": "PANTHER:PTHR13935" }, { "id": "UniProtKB:P50553" }, { "pages": [ "gene/references" ], "id": "RGD:736393" }, { "pages": [ "gene" ], "id": "HGNC:738" }, { "id": "RGD:736393" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASCL2", "geneSynopsis": "This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. Involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "achaete-scute family bHLH transcription factor 2", "basicGeneticEntity": { "synonyms": [ "ASH-2", "ASH2", "HASH2", "MASH2", "achaete-scute complex homolog 2", "achaete-scute complex homolog-like 2 (drosophila)", "achaete-scute complex-like 2", "achaete-scute homolog 2", "bHLHa45", "class A basic helix-loop-helix protein 45", "mammalian achaete/scute homologue 2" ], "secondaryIds": [ "RGD:735625" ], "genomeLocations": [ { "strand": "-", "endPosition": 2270588, "chromosome": "11", "assembly": "GRCh38", "startPosition": 2268498 } ], "primaryId": "HGNC:739", "crossReferences": [ { "id": "ENSEMBL:ENSG00000183734" }, { "id": "NCBI_Gene:430" }, { "id": "PANTHER:PTHR13935" }, { "id": "UniProtKB:Q99929" }, { "pages": [ "gene/references" ], "id": "RGD:735625" }, { "pages": [ "gene" ], "id": "HGNC:739" }, { "id": "RGD:735625" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASCL3", "geneSynopsis": "Basic helix-loop-helix transcription factors, such as ASCL3, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "achaete-scute family bHLH transcription factor 3", "basicGeneticEntity": { "synonyms": [ "ASH-3", "HASH3", "SGN1", "achaete-scute complex homolog 3", "achaete-scute homolog 3", "bHLH transcription factor Sgn-1 (Salivary Glands 1)", "bHLH transcriptional regulator Sgn-1", "bHLHa42", "class A basic helix-loop-helix protein 42" ], "secondaryIds": [ "RGD:1315779" ], "genomeLocations": [ { "strand": "-", "endPosition": 8943016, "chromosome": "11", "assembly": "GRCh38", "startPosition": 8937578 } ], "primaryId": "HGNC:740", "crossReferences": [ { "id": "ENSEMBL:ENSG00000176009" }, { "id": "NCBI_Gene:56676" }, { "id": "PANTHER:PTHR23349" }, { "id": "UniProtKB:Q9NQ33" }, { "pages": [ "gene/references" ], "id": "RGD:1315779" }, { "pages": [ "gene" ], "id": "HGNC:740" }, { "id": "RGD:1315779" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASCL4", "geneSynopsis": "Basic helix-loop-helix transcription factors, such as ASCL4, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "achaete-scute family bHLH transcription factor 4", "basicGeneticEntity": { "synonyms": [ "ASH-4", "HASH4", "achaete-scute complex homolog 4", "achaete-scute complex-like 4", "achaete-scute complex-like 4 (drosophila)", "achaete-scute homolog 4", "achaete-scute-like protein 4", "bHLHa44", "class A basic helix-loop-helix protein 44", "class II bHLH protein ASCL4" ], "secondaryIds": [ "RGD:1316784" ], "genomeLocations": [ { "strand": "+", "endPosition": 107776644, "chromosome": "12", "assembly": "GRCh38", "startPosition": 107774704 } ], "primaryId": "HGNC:24311", "crossReferences": [ { "id": "ENSEMBL:ENSG00000187855" }, { "id": "NCBI_Gene:121549" }, { "id": "PANTHER:PTHR23349" }, { "id": "UniProtKB:Q6XD76" }, { "pages": [ "gene/references" ], "id": "RGD:1316784" }, { "pages": [ "gene" ], "id": "HGNC:24311" }, { "id": "RGD:1316784" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASCL5", "geneSynopsis": "Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be part of RNA polymerase II transcription regulator complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "achaete-scute family bHLH transcription factor 5", "basicGeneticEntity": { "synonyms": [ "ASH-5", "AmeloD", "achaete-scute complex homolog 5", "achaete-scute complex homolog 5 (Drosophila)", "achaete-scute homolog 5", "bHLHa47", "class A basic helix-loop-helix protein 47", "hASH5" ], "secondaryIds": [ "RGD:1603722" ], "genomeLocations": [ { "strand": "-", "endPosition": 201127184, "chromosome": "1", "assembly": "GRCh38", "startPosition": 201113943 } ], "primaryId": "HGNC:33169", "crossReferences": [ { "id": "ENSEMBL:ENSG00000232237" }, { "id": "NCBI_Gene:647219" }, { "id": "PANTHER:PTHR23349" }, { "id": "UniProtKB:Q7RTU5" }, { "pages": [ "gene/references" ], "id": "RGD:1603722" }, { "pages": [ "gene" ], "id": "HGNC:33169" }, { "id": "RGD:1603722" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASDURF", "geneSynopsis": "Predicted to be involved in protein stabilization. Part of RPAP3/R2TP/prefoldin-like complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ASNSD1 upstream open reading frame", "basicGeneticEntity": { "synonyms": [ "ASNSD1", "ASNSD1 upstream reading frame", "ASNSD1-SEP", "Asparagine synthetase domain-containing protein 1", "HCV NS3-transactivated protein 1", "NS3TP1", "alternative protein ASNSD1", "uncharacterized LOC110599588" ], "secondaryIds": [ "RGD:13207374" ], "genomeLocations": [ { "strand": "+", "endPosition": 189666437, "chromosome": "2", "assembly": "GRCh38", "startPosition": 189661452 } ], "primaryId": "HGNC:53619", "crossReferences": [ { "id": "ENSEMBL:ENSG00000286053" }, { "id": "NCBI_Gene:110599588" }, { "id": "UniProtKB:L0R819" }, { "pages": [ "gene/references" ], "id": "RGD:13207374" }, { "pages": [ "gene" ], "id": "HGNC:53619" }, { "id": "RGD:13207374" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASF1A", "geneSynopsis": "This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The protein is a key component of a histone donor complex that functions in nucleosome assembly. It interacts with histones H3 and H4, and functions together with a chromatin assembly factor during DNA replication and repair. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "anti-silencing function 1A histone chaperone", "basicGeneticEntity": { "synonyms": [ "ASF1 anti-silencing function 1 homolog A", "CCG1-interacting factor A", "CGI-98", "CIA", "DKFZp547E2110", "HSPC146", "anti-silencing function 1A", "anti-silencing function protein 1 homolog A", "hAsf1", "hAsf1a", "hCIA", "histone chaperone ASF1A" ], "secondaryIds": [ "RGD:1323657" ], "genomeLocations": [ { "strand": "+", "endPosition": 118909171, "chromosome": "6", "assembly": "GRCh38", "startPosition": 118894152 } ], "primaryId": "HGNC:20995", "crossReferences": [ { "id": "ENSEMBL:ENSG00000111875" }, { "id": "NCBI_Gene:25842" }, { "id": "PANTHER:PTHR12040" }, { "id": "UniProtKB:Q9Y294" }, { "pages": [ "gene/references" ], "id": "RGD:1323657" }, { "pages": [ "gene" ], "id": "HGNC:20995" }, { "id": "RGD:1323657" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASF1B", "geneSynopsis": "This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The encoded protein is the substrate of the tousled-like kinase family of cell cycle-regulated kinases, and may play a key role in modulating the nucleosome structure of chromatin by ensuring a constant supply of histones at sites of nucleosome assembly. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "anti-silencing function 1B histone chaperone", "basicGeneticEntity": { "synonyms": [ "ASF1 anti-silencing function 1 homolog B", "CCG1-interacting factor A-II", "CIA-II", "FLJ10604", "anti-silencing function protein 1 homolog B", "hAsf1", "hAsf1b", "hCIA-II", "histone chaperone ASF1B" ], "secondaryIds": [ "RGD:1312634" ], "genomeLocations": [ { "strand": "-", "endPosition": 14136622, "chromosome": "19", "assembly": "GRCh38", "startPosition": 14119512 } ], "primaryId": "HGNC:20996", "crossReferences": [ { "id": "ENSEMBL:ENSG00000105011" }, { "id": "ENSEMBL:ENSG00000288210" }, { "id": "NCBI_Gene:55723" }, { "id": "PANTHER:PTHR12040" }, { "id": "UniProtKB:Q9NVP2" }, { "pages": [ "gene/references" ], "id": "RGD:1312634" }, { "pages": [ "gene" ], "id": "HGNC:20996" }, { "id": "RGD:1312634" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASGR1", "geneSynopsis": "This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the more abundant major subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]", "soTermId": "SO:0001217", "name": "asialoglycoprotein receptor 1", "basicGeneticEntity": { "synonyms": [ "ASGP-R 1", "ASGPR", "ASGPR 1", "ASGPR1", "C-type lectin domain family 4 member H1", "C-type lectin domain family 4, member H1", "CLEC4H1", "HL-1", "Hs.12056", "hepatic asialoglycoprotein receptor 1", "hepatic lectin H1" ], "secondaryIds": [ "RGD:737103" ], "genomeLocations": [ { "strand": "-", "endPosition": 7179648, "chromosome": "17", "assembly": "GRCh38", "startPosition": 7172535 } ], "primaryId": "HGNC:742", "crossReferences": [ { "id": "ENSEMBL:ENSG00000141505" }, { "id": "NCBI_Gene:432" }, { "id": "PANTHER:PTHR22803" }, { "id": "UniProtKB:P07306" }, { "pages": [ "gene/references" ], "id": "RGD:737103" }, { "pages": [ "gene" ], "id": "HGNC:742" }, { "id": "RGD:737103" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASGR2", "geneSynopsis": "This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the less abundant minor subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]", "soTermId": "SO:0001217", "name": "asialoglycoprotein receptor 2", "basicGeneticEntity": { "synonyms": [ "ASGP-R", "ASGP-R 2", "ASGP-R2", "ASGPR 2", "ASGPR2", "C-type lectin domain family 4 member H2", "C-type lectin domain family 4, member H2", "CLEC4H2", "FLJ60040", "HBXBP", "HBxAg-binding protein", "HL-2", "Hs.1259", "L-H2", "asialoglycoprotein receptor H2", "hepatic lectin H2" ], "secondaryIds": [ "RGD:1343618" ], "genomeLocations": [ { "strand": "-", "endPosition": 7116603, "chromosome": "17", "assembly": "GRCh38", "startPosition": 7100166 } ], "primaryId": "HGNC:743", "crossReferences": [ { "id": "ENSEMBL:ENSG00000161944" }, { "id": "NCBI_Gene:433" }, { "id": "PANTHER:PTHR22803" }, { "id": "UniProtKB:P07307" }, { "pages": [ "gene/references" ], "id": "RGD:1343618" }, { "pages": [ "gene" ], "id": "HGNC:743" }, { "id": "RGD:1343618" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASH1L", "geneSynopsis": "This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ASH1 like histone lysine methyltransferase", "basicGeneticEntity": { "synonyms": [ "ASH1", "ASH1-like protein", "ASH1L1", "FLJ10504", "KIAA1420", "KMT2H", "MRD52", "absent small and homeotic disks protein 1 homolog", "ash1 (absent, small, or homeotic)-like", "ash1 (absent, small, or homeotic)-like (Drosophila)", "histone-lysine N-methyltransferase ASH1L", "lysine N-methyltransferase 2H", "probable histone-lysine N-methyltransferase ASH1L" ], "secondaryIds": [ "RGD:1314918" ], "genomeLocations": [ { "strand": "-", "endPosition": 155563202, "chromosome": "1", "assembly": "GRCh38", "startPosition": 155335268 } ], "primaryId": "HGNC:19088", "crossReferences": [ { "id": "ENSEMBL:ENSG00000116539" }, { "id": "NCBI_Gene:55870" }, { "id": "PANTHER:PTHR46147" }, { "id": "UniProtKB:Q9NR48" }, { "pages": [ "gene/references" ], "id": "RGD:1314918" }, { "pages": [ "gene" ], "id": "HGNC:19088" }, { "id": "RGD:1314918" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASH1L-AS1", "geneSynopsis": "INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; 4,4'-sulfonyldiphenol; benzo[a]pyrene", "soTermId": "SO:0001263", "name": "ASH1L antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "APPLE" ], "secondaryIds": [ "RGD:6769643" ], "genomeLocations": [ { "strand": "+", "endPosition": 155570755, "chromosome": "1", "assembly": "GRCh38", "startPosition": 155562026 } ], "primaryId": "HGNC:44146", "crossReferences": [ { "id": "ENSEMBL:ENSG00000235919" }, { "id": "NCBI_Gene:645676" }, { "pages": [ "gene/references" ], "id": "RGD:6769643" }, { "pages": [ "gene" ], "id": "HGNC:44146" }, { "id": "RGD:6769643" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASH1L-IT1", "soTermId": "SO:0001263", "name": "ASH1L intronic transcript 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:10413544" ], "genomeLocations": [ { "strand": "-", "endPosition": 155396978, "chromosome": "1", "assembly": "GRCh38", "startPosition": 155396010 } ], "primaryId": "HGNC:41449", "crossReferences": [ { "id": "ENSEMBL:ENSG00000227773" }, { "id": "NCBI_Gene:106478976" }, { "pages": [ "gene/references" ], "id": "RGD:10413544" }, { "pages": [ "gene" ], "id": "HGNC:41449" }, { "id": "RGD:10413544" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASH2L", "geneSynopsis": "Enables beta-catenin binding activity and transcription cis-regulatory region binding activity. Involved in positive regulation of cell population proliferation; response to estrogen; and transcription initiation-coupled chromatin remodeling. Acts upstream of or within DNA damage response. Located in nucleus. Part of MLL1 complex; MLL3/4 complex; and Set1C/COMPASS complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ASH2 like, histone lysine methyltransferase complex subunit", "basicGeneticEntity": { "synonyms": [ "ASH2", "ASH2 like histone lysine methyltransferase complex subunit", "ASH2-like protein", "ASH2L1", "ASH2L2", "Bre2", "ash2 (absent, small, or homeotic)-like", "ash2 (absent, small, or homeotic)-like (Drosophila)", "set1/Ash2 histone methyltransferase complex subunit ASH2" ], "secondaryIds": [ "RGD:1313775" ], "genomeLocations": [ { "strand": "+", "endPosition": 38144124, "chromosome": "8", "assembly": "GRCh38", "startPosition": 38105493 } ], "primaryId": "HGNC:744", "crossReferences": [ { "id": "ENSEMBL:ENSG00000129691" }, { "id": "NCBI_Gene:9070" }, { "id": "PANTHER:PTHR10598" }, { "id": "UniProtKB:Q9UBL3" }, { "pages": [ "gene/references" ], "id": "RGD:1313775" }, { "pages": [ "gene" ], "id": "HGNC:744" }, { "id": "RGD:1313775" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASH2LP1", "soTermId": "SO:0000336", "name": "ASH2L pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ASH2 like histone lysine methyltransferase complex subunit pseudogene 1", "ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene 1" ], "secondaryIds": [ "RGD:1343075" ], "genomeLocations": [ { "strand": "+", "endPosition": 22421787, "chromosome": "22", "assembly": "GRCh38", "startPosition": 22420326 } ], "primaryId": "HGNC:19332", "crossReferences": [ { "id": "ENSEMBL:ENSG00000224144" }, { "id": "NCBI_Gene:266703" }, { "pages": [ "gene/references" ], "id": "RGD:1343075" }, { "pages": [ "gene" ], "id": "HGNC:19332" }, { "id": "RGD:1343075" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASH2LP2", "soTermId": "SO:0000336", "name": "ASH2L pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ASH2 like histone lysine methyltransferase complex subunit pseudogene 2" ], "secondaryIds": [ "RGD:11667714" ], "genomeLocations": [ { "strand": "+", "endPosition": 22368423, "chromosome": "22", "assembly": "GRCh38", "startPosition": 22366210 } ], "primaryId": "HGNC:53059", "crossReferences": [ { "id": "ENSEMBL:ENSG00000237428" }, { "id": "NCBI_Gene:100422088" }, { "pages": [ "gene/references" ], "id": "RGD:11667714" }, { "pages": [ "gene" ], "id": "HGNC:53059" }, { "id": "RGD:11667714" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASH2LP3", "soTermId": "SO:0000336", "name": "ASH2L pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ASH2 like histone lysine methyltransferase complex subunit pseudogene 3" ], "secondaryIds": [ "RGD:11667307" ], "genomeLocations": [ { "strand": "+", "endPosition": 22341214, "chromosome": "22", "assembly": "GRCh38", "startPosition": 22339573 } ], "primaryId": "HGNC:53060", "crossReferences": [ { "id": "ENSEMBL:ENSG00000225724" }, { "id": "NCBI_Gene:100736411" }, { "pages": [ "gene/references" ], "id": "RGD:11667307" }, { "pages": [ "gene" ], "id": "HGNC:53060" }, { "id": "RGD:11667307" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASH2LP4", "soTermId": "SO:0000336", "name": "ASH2L pseudogene 4", "basicGeneticEntity": { "synonyms": [ "ASH2 like, histone lysine methyltransferase complex subunit pseudogene", "LOC100736412" ], "secondaryIds": [ "RGD:38670389" ], "genomeLocations": [ { "strand": "+", "endPosition": 22449007, "chromosome": "22", "assembly": "GRCh38", "startPosition": 22446836 } ], "primaryId": "HGNC:56973", "crossReferences": [ { "id": "NCBI_Gene:100736412" }, { "pages": [ "gene/references" ], "id": "RGD:38670389" }, { "pages": [ "gene" ], "id": "HGNC:56973" }, { "id": "RGD:38670389" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASIC1", "geneSynopsis": "This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]", "soTermId": "SO:0001217", "name": "acid sensing ion channel subunit 1", "basicGeneticEntity": { "synonyms": [ "ACCN2", "ACCN2 variant 3", "ASIC", "ASIC1A", "BNaC2", "Cation channel, amiloride-sensitive, neuronal, 2", "acid sensing (proton gated) ion channel 1", "acid sensing ion channel 1", "acid-sensing (proton-gated) ion channel 1", "acid-sensing ion channel 1", "acid-sensing ion channel 1a protein", "amiloride-sensitive cation channel 2, neuronal", "brain sodium channel 2", "hBNaC2" ], "secondaryIds": [ "RGD:731360" ], "genomeLocations": [ { "strand": "+", "endPosition": 50083622, "chromosome": "12", "assembly": "GRCh38", "startPosition": 50057548 } ], "primaryId": "HGNC:100", "crossReferences": [ { "id": "ENSEMBL:ENSG00000110881" }, { "id": "NCBI_Gene:41" }, { "id": "PANTHER:PTHR11690" }, { "id": "UniProtKB:P78348" }, { "pages": [ "gene/references" ], "id": "RGD:731360" }, { "pages": [ "gene" ], "id": "HGNC:100" }, { "id": "RGD:731360" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASIC2", "geneSynopsis": "This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012]", "soTermId": "SO:0001217", "name": "acid sensing ion channel subunit 2", "basicGeneticEntity": { "synonyms": [ "ACCN", "ACCN1", "ASIC2a", "BNC1", "BNaC1", "MDEG", "acid sensing (proton gated) ion channel 2", "acid sensing ion channel 2", "acid-sensing (proton-gated) ion channel 2", "acid-sensing ion channel 2", "amiloride-sensitive brain sodium channel", "amiloride-sensitive cation channel 1", "amiloride-sensitive cation channel 1, neuronal", "amiloride-sensitive cation channel neuronal 1", "brain Na+ channel-1", "brain sodium channel 1", "degenerin", "hBNaC1", "mammalian degenerin homolog", "neuronal amiloride-sensitive cation channel 1" ], "secondaryIds": [ "RGD:737359" ], "genomeLocations": [ { "strand": "-", "endPosition": 34174964, "chromosome": "17", "assembly": "GRCh38", "startPosition": 33013087 } ], "primaryId": "HGNC:99", "crossReferences": [ { "id": "ENSEMBL:ENSG00000108684" }, { "id": "NCBI_Gene:40" }, { "id": "PANTHER:PTHR11690" }, { "id": "UniProtKB:Q16515" }, { "pages": [ "gene/references" ], "id": "RGD:737359" }, { "pages": [ "gene" ], "id": "HGNC:99" }, { "id": "RGD:737359" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASIC2-AS1", "soTermId": "SO:0001263", "name": "ASIC2 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LOC147004", "uncharacterized LOC147004" ], "secondaryIds": [ "RGD:38621487" ], "genomeLocations": [ { "strand": "+", "endPosition": 33582006, "chromosome": "17", "assembly": "GRCh38", "startPosition": 33559007 } ], "primaryId": "HGNC:27103", "crossReferences": [ { "id": "NCBI_Gene:147004" }, { "pages": [ "gene/references" ], "id": "RGD:38621487" }, { "pages": [ "gene" ], "id": "HGNC:27103" }, { "id": "RGD:38621487" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASIC2-AS2", "soTermId": "SO:0001263", "name": "ASIC2 antisense RNA 2", "basicGeneticEntity": { "synonyms": [ "LOC105371737", "uncharacterized LOC105371737" ], "secondaryIds": [ "RGD:38626055" ], "genomeLocations": [ { "strand": "+", "endPosition": 33152230, "chromosome": "17", "assembly": "GRCh38", "startPosition": 33112006 } ], "primaryId": "HGNC:58564", "crossReferences": [ { "id": "NCBI_Gene:105371737" }, { "pages": [ "gene/references" ], "id": "RGD:38626055" }, { "pages": [ "gene" ], "id": "HGNC:58564" }, { "id": "RGD:38626055" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASIC2-AS3", "soTermId": "SO:0001263", "name": "ASIC2 antisense RNA 3", "basicGeneticEntity": { "secondaryIds": [ "RGD:625776952" ], "primaryId": "HGNC:58620", "crossReferences": [ { "id": "NCBI_Gene:142761590" }, { "pages": [ "gene/references" ], "id": "RGD:625776952" }, { "pages": [ "gene" ], "id": "HGNC:58620" }, { "id": "RGD:625776952" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASIC3", "geneSynopsis": "This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]", "soTermId": "SO:0001217", "name": "acid sensing ion channel subunit 3", "basicGeneticEntity": { "synonyms": [ "ACCN3", "DRASIC", "SLNAC1", "TNaC1", "acid sensing (proton gated) ion channel 3", "acid sensing ion channel 3", "acid-sensing (proton-gated) ion channel 3", "acid-sensing ion channel 3", "amiloride-sensitive cation channel 3", "amiloride-sensitive cation channel 3, testis", "hASIC3", "hTNaC1", "modulatory subunit of ASIC2a", "neuronal amiloride-sensitive cation channel 3", "proton-gated cation channel subunit", "testis sodium channel 1" ], "secondaryIds": [ "RGD:1353665" ], "genomeLocations": [ { "strand": "+", "endPosition": 151052756, "chromosome": "7", "assembly": "GRCh38", "startPosition": 151048292 } ], "primaryId": "HGNC:101", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213199" }, { "id": "NCBI_Gene:9311" }, { "id": "PANTHER:PTHR11690" }, { "id": "UniProtKB:Q9UHC3" }, { "pages": [ "gene/references" ], "id": "RGD:1353665" }, { "pages": [ "gene" ], "id": "HGNC:101" }, { "id": "RGD:1353665" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASIC4", "geneSynopsis": "This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012]", "soTermId": "SO:0001217", "name": "acid sensing ion channel subunit family member 4", "basicGeneticEntity": { "synonyms": [ "ACCN4", "BNAC4", "MGC17248", "MGC24860", "acid sensing (proton gated) ion channel family member 4", "acid sensing ion channel family member 4", "acid-sensing (proton-gated) ion channel family member 4", "acid-sensing ion channel 4", "amiloride-sensitive cation channel 4", "amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary", "brain sodium channel 4" ], "secondaryIds": [ "RGD:1604616" ], "genomeLocations": [ { "strand": "+", "endPosition": 219538772, "chromosome": "2", "assembly": "GRCh38", "startPosition": 219507093 } ], "primaryId": "HGNC:21263", "crossReferences": [ { "id": "ENSEMBL:ENSG00000072182" }, { "id": "NCBI_Gene:55515" }, { "id": "PANTHER:PTHR11690" }, { "id": "UniProtKB:Q96FT7" }, { "pages": [ "gene/references" ], "id": "RGD:1604616" }, { "pages": [ "gene" ], "id": "HGNC:21263" }, { "id": "RGD:1604616" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASIC4-AS1", "soTermId": "SO:0001263", "name": "ASIC4 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AC053503.1" ], "secondaryIds": [ "RGD:14700588" ], "genomeLocations": [ { "strand": "-", "endPosition": 219517086, "chromosome": "2", "assembly": "GRCh38", "startPosition": 219481732 } ], "primaryId": "HGNC:40960", "crossReferences": [ { "id": "ENSEMBL:ENSG00000227432" }, { "id": "NCBI_Gene:105373885" }, { "pages": [ "gene/references" ], "id": "RGD:14700588" }, { "pages": [ "gene" ], "id": "HGNC:40960" }, { "id": "RGD:14700588" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASIC5", "geneSynopsis": "This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many animal species ranging from the nematode to human. The amiloride-sensitive Na(+) channel encoded by this gene is primarily expressed in the small intestine, however, its exact function is not known. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "acid sensing ion channel subunit family member 5", "basicGeneticEntity": { "synonyms": [ "ACCN5", "BASIC", "HINAC", "INAC", "acid sensing (proton gated) ion channel family member 5", "acid sensing ion channel family member 5", "acid-sensing (proton-gated) ion channel family member 5", "acid-sensing ion channel 5", "amiloride-sensitive cation channel 5", "amiloride-sensitive cation channel 5, intestinal", "amiloride-sensitive sodium channel", "bile acid-sensitive ion channel", "human intestine Na(+) channel" ], "secondaryIds": [ "RGD:736018" ], "genomeLocations": [ { "strand": "-", "endPosition": 155866277, "chromosome": "4", "assembly": "GRCh38", "startPosition": 155829729 } ], "primaryId": "HGNC:17537", "crossReferences": [ { "id": "ENSEMBL:ENSG00000256394" }, { "id": "NCBI_Gene:51802" }, { "id": "PANTHER:PTHR11690" }, { "id": "UniProtKB:Q9NY37" }, { "pages": [ "gene/references" ], "id": "RGD:736018" }, { "pages": [ "gene" ], "id": "HGNC:17537" }, { "id": "RGD:736018" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASIP", "geneSynopsis": "In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "agouti signaling protein", "basicGeneticEntity": { "synonyms": [ "AGSW", "AGTI", "AGTIL", "ASP", "MGC126092", "MGC126093", "SHEP9", "agouti", "agouti (mouse)-signaling protein", "agouti signaling protein, nonagouti homolog", "agouti switch protein", "agouti-signaling protein", "nonagouti homolog" ], "secondaryIds": [ "RGD:69199" ], "genomeLocations": [ { "strand": "+", "endPosition": 34269346, "chromosome": "20", "assembly": "GRCh38", "startPosition": 34186493 } ], "primaryId": "HGNC:745", "crossReferences": [ { "id": "ENSEMBL:ENSG00000101440" }, { "id": "NCBI_Gene:434" }, { "id": "PANTHER:PTHR16551" }, { "id": "UniProtKB:P42127" }, { "pages": [ "gene/references" ], "id": "RGD:69199" }, { "pages": [ "gene" ], "id": "HGNC:745" }, { "id": "RGD:69199" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASL", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "argininosuccinate lyase", "basicGeneticEntity": { "synonyms": [ "ASAL", "ASLD", "argininosuccinase", "arginosuccinase" ], "secondaryIds": [ "RGD:731559" ], "genomeLocations": [ { "strand": "+", "endPosition": 66094697, "chromosome": "7", "assembly": "GRCh38", "startPosition": 66075800 } ], "primaryId": "HGNC:746", "crossReferences": [ { "id": "ENSEMBL:ENSG00000126522" }, { "id": "NCBI_Gene:435" }, { "id": "PANTHER:PTHR43814" }, { "id": "UniProtKB:P04424" }, { "pages": [ "gene/references" ], "id": "RGD:731559" }, { "pages": [ "gene" ], "id": "HGNC:746" }, { "id": "RGD:731559" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASLP1", "soTermId": "SO:0000336", "name": "argininosuccinate lyase pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ASLL" ], "secondaryIds": [ "RGD:1352939" ], "genomeLocations": [ { "strand": "-", "endPosition": 23653359, "chromosome": "22", "assembly": "GRCh38", "startPosition": 23648669 } ], "primaryId": "HGNC:747", "crossReferences": [ { "id": "ENSEMBL:ENSG00000244723" }, { "id": "NCBI_Gene:436" }, { "pages": [ "gene/references" ], "id": "RGD:1352939" }, { "pages": [ "gene" ], "id": "HGNC:747" }, { "id": "RGD:1352939" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASMER1", "geneSynopsis": "INTERACTS WITH Aflatoxin B2 alpha; benzo[e]pyrene; methapyrilene", "soTermId": "SO:0001263", "name": "adipocyte associated metabolic related lncRNA 1", "basicGeneticEntity": { "synonyms": [ "ASMER-1", "LINC02246", "long intergenic non-protein coding RNA 2246" ], "secondaryIds": [ "RGD:12791222" ], "genomeLocations": [ { "strand": "-", "endPosition": 15064771, "chromosome": "21", "assembly": "GRCh38", "startPosition": 14816838 } ], "primaryId": "HGNC:53135", "crossReferences": [ { "id": "ENSEMBL:ENSG00000281903" }, { "id": "NCBI_Gene:107987295" }, { "pages": [ "gene/references" ], "id": "RGD:12791222" }, { "pages": [ "gene" ], "id": "HGNC:53135" }, { "id": "RGD:12791222" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASMER2", "soTermId": "SO:0001263", "name": "adipocyte associated metabolic related lncRNA 2", "basicGeneticEntity": { "synonyms": [ "ASMER-2", "LOC105373202", "uncharacterized LOC105373202" ], "secondaryIds": [ "RGD:38674831" ], "genomeLocations": [ { "strand": "+", "endPosition": 50992213, "chromosome": "X", "assembly": "GRCh38", "startPosition": 50979144 } ], "primaryId": "HGNC:56702", "crossReferences": [ { "id": "ENSEMBL:ENSG00000295333" }, { "id": "NCBI_Gene:105373202" }, { "pages": [ "gene/references" ], "id": "RGD:38674831" }, { "pages": [ "gene" ], "id": "HGNC:56702" }, { "id": "RGD:38674831" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASMT", "geneSynopsis": "This gene belongs to the methyltransferase superfamily, and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. The encoded enzyme catalyzes the final reaction in the synthesis of melatonin, and is abundant in the pineal gland. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Jan 2010]", "soTermId": "SO:0001217", "name": "acetylserotonin O-methyltransferase", "basicGeneticEntity": { "synonyms": [ "ASMTY", "HIOMT", "HIOMTY", "acetylserotonin N-methyltransferase", "acetylserotonin methyltransferase (Y chromosome)", "hydroxyindole O-methyltransferase" ], "secondaryIds": [ "RGD:1353638" ], "genomeLocations": [ { "strand": "+", "endPosition": 1643081, "chromosome": "X", "assembly": "GRCh38", "startPosition": 1615059 }, { "strand": "+", "endPosition": 1643081, "chromosome": "Y", "assembly": "GRCh38", "startPosition": 1615059 } ], "primaryId": "HGNC:750", "crossReferences": [ { "id": "ENSEMBL:ENSG00000292336" }, { "id": "ENSEMBL:ENSG00000196433" }, { "id": "NCBI_Gene:438" }, { "id": "PANTHER:PTHR43712" }, { "id": "UniProtKB:P46597" }, { "pages": [ "gene/references" ], "id": "RGD:1353638" }, { "pages": [ "gene" ], "id": "HGNC:750" }, { "id": "RGD:1353638" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASMTL", "geneSynopsis": "The protein encoded by this gene has an N-terminus that is similar to the multicopy associated filamentation (maf) protein of Bacillus subtilis and to orfE of Escherichia coli, while the C-terminus is similar to N-acetylserotonin O-methyltransferase. This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]", "soTermId": "SO:0001217", "name": "acetylserotonin O-methyltransferase like", "basicGeneticEntity": { "synonyms": [ "ASMTLX", "ASMTLY", "ASTML", "N-acetylserotonin O-methyltransferase-like protein", "acetylserotonin N-methyltransferase-like", "acetylserotonin O-methyltransferase-like" ], "secondaryIds": [ "RGD:1315744" ], "genomeLocations": [ { "strand": "-", "endPosition": 1453786, "chromosome": "Y", "assembly": "GRCh38", "startPosition": 1403138 }, { "strand": "-", "endPosition": 1453786, "chromosome": "X", "assembly": "GRCh38", "startPosition": 1403138 } ], "primaryId": "HGNC:751", "crossReferences": [ { "id": "ENSEMBL:ENSG00000292339" }, { "id": "ENSEMBL:ENSG00000169093" }, { "id": "NCBI_Gene:8623" }, { "id": "PANTHER:PTHR43213" }, { "id": "UniProtKB:O95671" }, { "pages": [ "gene/references" ], "id": "RGD:1315744" }, { "pages": [ "gene" ], "id": "HGNC:751" }, { "id": "RGD:1315744" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASMTL-AS1", "geneSynopsis": "This gene serves as the antisense to the acetylserotonin O-methyltransferase-like gene. Multiple non-coding transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]", "soTermId": "SO:0001263", "name": "ASMTL antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "ASMTL-AS", "ASMTLAS", "CXYorf2", "FLJ13330", "NCRNA00105" ], "secondaryIds": [ "RGD:1345758" ], "genomeLocations": [ { "strand": "+", "endPosition": 1415421, "chromosome": "X", "assembly": "GRCh38", "startPosition": 1400531 }, { "strand": "+", "endPosition": 1415421, "chromosome": "Y", "assembly": "GRCh38", "startPosition": 1400531 } ], "primaryId": "HGNC:25811", "crossReferences": [ { "id": "ENSEMBL:ENSG00000292331" }, { "id": "ENSEMBL:ENSG00000236017" }, { "id": "NCBI_Gene:80161" }, { "pages": [ "gene/references" ], "id": "RGD:1345758" }, { "pages": [ "gene" ], "id": "HGNC:25811" }, { "id": "RGD:1345758" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASNS", "geneSynopsis": "The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]", "soTermId": "SO:0001217", "name": "asparagine synthetase (glutamine-hydrolyzing)", "basicGeneticEntity": { "synonyms": [ "ASNSD", "TS11", "TS11 cell cycle control protein", "asparagine synthetase", "asparagine synthetase [glutamine-hydrolyzing]", "glutamine-dependent asparagine synthetase" ], "secondaryIds": [ "RGD:1343754" ], "genomeLocations": [ { "strand": "-", "endPosition": 97928441, "chromosome": "7", "assembly": "GRCh38", "startPosition": 97851677 } ], "primaryId": "HGNC:753", "crossReferences": [ { "id": "ENSEMBL:ENSG00000070669" }, { "id": "NCBI_Gene:440" }, { "id": "PANTHER:PTHR11772" }, { "id": "UniProtKB:P08243" }, { "pages": [ "gene/references" ], "id": "RGD:1343754" }, { "pages": [ "gene" ], "id": "HGNC:753" }, { "id": "RGD:1343754" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASNSD1", "geneSynopsis": "Predicted to enable asparagine synthase (glutamine-hydrolyzing) activity. Predicted to be involved in asparagine biosynthetic process. Predicted to act upstream of or within adipose tissue development; skeletal muscle tissue development; and transdifferentiation. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "asparagine synthetase domain containing 1", "basicGeneticEntity": { "synonyms": [ "FLJ20752", "HCV NS3-transactivated protein 1", "NBLA00058", "NS3TP1", "asparagine synthetase domain-containing protein 1" ], "secondaryIds": [ "RGD:1603641" ], "genomeLocations": [ { "strand": "+", "endPosition": 189670831, "chromosome": "2", "assembly": "GRCh38", "startPosition": 189661385 } ], "primaryId": "HGNC:24910", "crossReferences": [ { "id": "ENSEMBL:ENSG00000138381" }, { "id": "NCBI_Gene:54529" }, { "id": "PANTHER:PTHR45937" }, { "id": "UniProtKB:Q9NWL6" }, { "pages": [ "gene/references" ], "id": "RGD:1603641" }, { "pages": [ "gene" ], "id": "HGNC:24910" }, { "id": "RGD:1603641" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASNSP1", "geneSynopsis": "INTERACTS WITH silicon dioxide; sodium arsenite", "soTermId": "SO:0000336", "name": "ASNS pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ASNSL1", "asparagine synthetase pseudogene 1" ], "secondaryIds": [ "RGD:1346746" ], "genomeLocations": [ { "strand": "-", "endPosition": 46617605, "chromosome": "8", "assembly": "GRCh38", "startPosition": 46579213 } ], "primaryId": "HGNC:754", "crossReferences": [ { "id": "ENSEMBL:ENSG00000248498" }, { "id": "ENSEMBL:ENSG00000290398" }, { "id": "NCBI_Gene:389652" }, { "pages": [ "gene/references" ], "id": "RGD:1346746" }, { "pages": [ "gene" ], "id": "HGNC:754" }, { "id": "RGD:1346746" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASNSP2", "soTermId": "SO:0000336", "name": "ASNS pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ASNSL2", "asparagine synthetase pseudogene 2" ], "secondaryIds": [ "RGD:1352956" ], "genomeLocations": [ { "strand": "+", "endPosition": 8853510, "chromosome": "21", "assembly": "GRCh38", "startPosition": 8853355 } ], "primaryId": "HGNC:755", "crossReferences": [ { "id": "NCBI_Gene:442" }, { "pages": [ "gene/references" ], "id": "RGD:1352956" }, { "pages": [ "gene" ], "id": "HGNC:755" }, { "id": "RGD:1352956" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASNSP3", "geneSynopsis": "INTERACTS WITH bisphenol F", "soTermId": "SO:0000336", "name": "ASNS pseudogene 3", "basicGeneticEntity": { "synonyms": [ "asparagine synthetase pseudogene 3" ], "secondaryIds": [ "RGD:4889736" ], "genomeLocations": [ { "strand": "-", "endPosition": 100063617, "chromosome": "13", "assembly": "GRCh38", "startPosition": 100062269 } ], "primaryId": "HGNC:39399", "crossReferences": [ { "id": "ENSEMBL:ENSG00000236554" }, { "id": "NCBI_Gene:100423061" }, { "pages": [ "gene/references" ], "id": "RGD:4889736" }, { "pages": [ "gene" ], "id": "HGNC:39399" }, { "id": "RGD:4889736" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASNSP4", "geneSynopsis": "INTERACTS WITH sodium arsenite", "soTermId": "SO:0000336", "name": "ASNS pseudogene 4", "basicGeneticEntity": { "synonyms": [ "asparagine synthetase pseudogene 4" ], "secondaryIds": [ "RGD:4889697" ], "genomeLocations": [ { "strand": "+", "endPosition": 46698827, "chromosome": "8", "assembly": "GRCh38", "startPosition": 46697630 } ], "primaryId": "HGNC:39400", "crossReferences": [ { "id": "ENSEMBL:ENSG00000251470" }, { "id": "NCBI_Gene:100419423" }, { "pages": [ "gene/references" ], "id": "RGD:4889697" }, { "pages": [ "gene" ], "id": "HGNC:39400" }, { "id": "RGD:4889697" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASNSP5", "soTermId": "SO:0000336", "name": "ASNS pseudogene 5", "basicGeneticEntity": { "synonyms": [ "asparagine synthetase pseudogene 5" ], "secondaryIds": [ "RGD:6481559" ], "primaryId": "HGNC:39401", "crossReferences": [ { "id": "NCBI_Gene:100873794" }, { "pages": [ "gene/references" ], "id": "RGD:6481559" }, { "pages": [ "gene" ], "id": "HGNC:39401" }, { "id": "RGD:6481559" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASNSP6", "soTermId": "SO:0000336", "name": "ASNS pseudogene 6", "basicGeneticEntity": { "synonyms": [ "asparagine synthetase (glutamine-hydrolyzing) pseudogene 6", "asparagine synthetase pseudogene 6" ], "secondaryIds": [ "RGD:8549003" ], "genomeLocations": [ { "strand": "+", "endPosition": 11747707, "chromosome": "18", "assembly": "GRCh38", "startPosition": 11745626 } ], "primaryId": "HGNC:49876", "crossReferences": [ { "id": "ENSEMBL:ENSG00000267333" }, { "id": "NCBI_Gene:100423060" }, { "pages": [ "gene/references" ], "id": "RGD:8549003" }, { "pages": [ "gene" ], "id": "HGNC:49876" }, { "id": "RGD:8549003" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASPA", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "aspartoacylase", "basicGeneticEntity": { "synonyms": [ "ACY-2", "ACY2", "ASP", "Canavan disease", "aminoacylase 2", "aminoacylase-2", "aspartoacylase (Canavan disease)", "aspartoacylase (aminoacylase 2, canavan disease)", "cytosolic aspartoacylase" ], "secondaryIds": [ "RGD:1350952" ], "genomeLocations": [ { "strand": "+", "endPosition": 3503405, "chromosome": "17", "assembly": "GRCh38", "startPosition": 3472374 } ], "primaryId": "HGNC:756", "crossReferences": [ { "id": "ENSEMBL:ENSG00000108381" }, { "id": "NCBI_Gene:443" }, { "id": "PANTHER:PTHR15162" }, { "id": "UniProtKB:P45381" }, { "pages": [ "gene/references" ], "id": "RGD:1350952" }, { "pages": [ "gene" ], "id": "HGNC:756" }, { "id": "RGD:1350952" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASPDH", "geneSynopsis": "Predicted to enable NADP binding activity and aspartate dehydrogenase activity. Predicted to be involved in NAD biosynthetic process. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "aspartate dehydrogenase domain containing", "basicGeneticEntity": { "synonyms": [ "aspartate dehydrogenase domain-containing protein", "putative L-aspartate dehydrogenase" ], "secondaryIds": [ "RGD:1605752" ], "genomeLocations": [ { "strand": "-", "endPosition": 50515101, "chromosome": "19", "assembly": "GRCh38", "startPosition": 50511568 } ], "primaryId": "HGNC:33856", "crossReferences": [ { "id": "ENSEMBL:ENSG00000204653" }, { "id": "NCBI_Gene:554235" }, { "id": "PANTHER:PTHR31873" }, { "id": "UniProtKB:A6ND91" }, { "pages": [ "gene/references" ], "id": "RGD:1605752" }, { "pages": [ "gene" ], "id": "HGNC:33856" }, { "id": "RGD:1605752" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASPG", "geneSynopsis": "Predicted to enable acyltransferase activity, transferring groups other than amino-acyl groups; asparaginase activity; and lysophospholipase activity. Predicted to be involved in asparagine metabolic process and phospholipid metabolic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "asparaginase", "basicGeneticEntity": { "synonyms": [ "60 kDa lysophospholipase", "60-kDa-lysophospholipase", "C14orf76", "GPA/WT", "LYSOLP", "PAF acetylhydrolase", "asparaginase homolog", "hASNase1", "lysophospholipase-transacylase", "wild-type L-asparaginase" ], "secondaryIds": [ "RGD:1344860" ], "genomeLocations": [ { "strand": "+", "endPosition": 104115582, "chromosome": "14", "assembly": "GRCh38", "startPosition": 104085537 } ], "primaryId": "HGNC:20123", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166183" }, { "id": "NCBI_Gene:374569" }, { "id": "PANTHER:PTHR11707" }, { "id": "UniProtKB:Q86U10" }, { "pages": [ "gene/references" ], "id": "RGD:1344860" }, { "pages": [ "gene" ], "id": "HGNC:20123" }, { "id": "RGD:1344860" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASPH", "geneSynopsis": "This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009]", "soTermId": "SO:0001217", "name": "aspartate beta-hydroxylase", "basicGeneticEntity": { "synonyms": [ "A beta H-J-J", "AAH", "ASP beta-hydroxylase", "BAH", "CASQ2BP1", "FDLAB", "HAAH", "JCTN", "aspartyl/asparaginyl beta-hydroxylase", "aspartyl/asparaginyl-beta-hydroxylase", "cardiac junctin", "humbug", "junctate", "junctin", "peptide-aspartate beta-dioxygenase" ], "secondaryIds": [ "RGD:1323751" ], "genomeLocations": [ { "strand": "-", "endPosition": 61714768, "chromosome": "8", "assembly": "GRCh38", "startPosition": 61500549 } ], "primaryId": "HGNC:757", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198363" }, { "id": "NCBI_Gene:444" }, { "id": "PANTHER:PTHR12366" }, { "id": "UniProtKB:Q12797" }, { "pages": [ "gene/references" ], "id": "RGD:1323751" }, { "pages": [ "gene" ], "id": "HGNC:757" }, { "id": "RGD:1323751" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASPHD1", "geneSynopsis": "Predicted to enable dioxygenase activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "aspartate beta-hydroxylase domain containing 1", "basicGeneticEntity": { "synonyms": [ "aspartate beta-hydroxylase domain-containing protein 1" ], "secondaryIds": [ "RGD:1605839" ], "genomeLocations": [ { "strand": "+", "endPosition": 29919864, "chromosome": "16", "assembly": "GRCh38", "startPosition": 29900363 } ], "primaryId": "HGNC:27380", "crossReferences": [ { "id": "ENSEMBL:ENSG00000174939" }, { "id": "NCBI_Gene:253982" }, { "id": "PANTHER:PTHR46332" }, { "id": "UniProtKB:Q5U4P2" }, { "pages": [ "gene/references" ], "id": "RGD:1605839" }, { "pages": [ "gene" ], "id": "HGNC:27380" }, { "id": "RGD:1605839" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASPHD2", "geneSynopsis": "Predicted to enable dioxygenase activity and metal ion binding activity. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "aspartate beta-hydroxylase domain containing 2", "basicGeneticEntity": { "synonyms": [ "FLJ39838", "aspartate beta-hydroxylase domain-containing protein 2" ], "secondaryIds": [ "RGD:1601744" ], "genomeLocations": [ { "strand": "+", "endPosition": 26445015, "chromosome": "22", "assembly": "GRCh38", "startPosition": 26428729 } ], "primaryId": "HGNC:30437", "crossReferences": [ { "id": "ENSEMBL:ENSG00000128203" }, { "id": "NCBI_Gene:57168" }, { "id": "PANTHER:PTHR46332" }, { "id": "UniProtKB:Q6ICH7" }, { "pages": [ "gene/references" ], "id": "RGD:1601744" }, { "pages": [ "gene" ], "id": "HGNC:30437" }, { "id": "RGD:1601744" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASPM", "geneSynopsis": "This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]", "soTermId": "SO:0001217", "name": "assembly factor for spindle microtubules", "basicGeneticEntity": { "synonyms": [ "ASP", "Calmbp1", "DKFZp686N06184", "FLJ10517", "FLJ10549", "FLJ43117", "MCPH5", "abnormal spindle microtubule assembly", "abnormal spindle-like microcephaly-associated protein", "asp (abnormal spindle) homolog, microcephaly associated", "asp (abnormal spindle)-like, microcephaly associated (drosophila)" ], "secondaryIds": [ "RGD:1316111" ], "genomeLocations": [ { "strand": "-", "endPosition": 197146694, "chromosome": "1", "assembly": "GRCh38", "startPosition": 197084121 } ], "primaryId": "HGNC:19048", "crossReferences": [ { "id": "ENSEMBL:ENSG00000066279" }, { "id": "NCBI_Gene:259266" }, { "id": "PANTHER:PTHR22706" }, { "id": "UniProtKB:Q8IZT6" }, { "pages": [ "gene/references" ], "id": "RGD:1316111" }, { "pages": [ "gene" ], "id": "HGNC:19048" }, { "id": "RGD:1316111" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASPN", "geneSynopsis": "This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family. The encoded protein may regulate chondrogenesis by inhibiting transforming growth factor-beta 1-induced gene expression in cartilage. This protein also binds collagen and calcium and may induce collagen mineralization. Polymorphisms in the aspartic acid repeat region of this gene are associated with a susceptibility to osteoarthritis, and also with intervertebral disc disease. Alternative splicing of this gene results in multiple transcript variants.[provided by RefSeq, Jul 2014]", "soTermId": "SO:0001217", "name": "asporin", "basicGeneticEntity": { "synonyms": [ "FLJ20129", "OS3", "PLAP-1", "PLAP1", "SLRR1C", "asporin (LRR class 1)", "asporin proteoglycan", "periodontal ligament associated protein 1", "periodontal ligament-associated protein 1", "small leucine-rich protein 1C" ], "secondaryIds": [ "RGD:1345823" ], "genomeLocations": [ { "strand": "-", "endPosition": 92492208, "chromosome": "9", "assembly": "GRCh38", "startPosition": 92456205 } ], "primaryId": "HGNC:14872", "crossReferences": [ { "id": "ENSEMBL:ENSG00000106819" }, { "id": "NCBI_Gene:54829" }, { "id": "PANTHER:PTHR45712" }, { "id": "UniProtKB:Q9BXN1" }, { "pages": [ "gene/references" ], "id": "RGD:1345823" }, { "pages": [ "gene" ], "id": "HGNC:14872" }, { "id": "RGD:1345823" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASPRV1", "geneSynopsis": "Filaggrin is a structural protein that is crucial for in the development and maintenance of the skin barrier. This gene encodes a retroviral-like protease involved in profilaggrin-to-filaggrin processing. Expression is found primarily in the epidermis and inner root sheath of hair follicles. [provided by RefSeq, May 2017]", "soTermId": "SO:0001217", "name": "aspartic peptidase retroviral like 1", "basicGeneticEntity": { "synonyms": [ "ADLI", "MUNO", "SASP", "SASPase", "TPA-inducible aspartic proteinase-like protein", "Taps", "aspartic peptidase, retroviral-like 1", "retroviral-like aspartic protease 1", "skin aspartic protease", "skin-specific retroviral-like aspartic protease" ], "secondaryIds": [ "RGD:1604987" ], "genomeLocations": [ { "strand": "-", "endPosition": 70087375, "chromosome": "2", "assembly": "GRCh38", "startPosition": 69932717 } ], "primaryId": "HGNC:26321", "crossReferences": [ { "id": "ENSEMBL:ENSG00000244617" }, { "id": "ENSEMBL:ENSG00000293615" }, { "id": "NCBI_Gene:151516" }, { "id": "PANTHER:PTHR37006" }, { "id": "UniProtKB:Q53RT3" }, { "pages": [ "gene/references" ], "id": "RGD:1604987" }, { "pages": [ "gene" ], "id": "HGNC:26321" }, { "id": "RGD:1604987" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASPSCR1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ASPSCR1 tether for SLC2A4, UBX domain containing", "basicGeneticEntity": { "synonyms": [ "ASPCR1", "ASPL", "ASPS", "ASPSCR1, UBX domain containing tether for SLC2A4", "FLJ45380", "RCC17", "TUG", "UBX domain protein 9", "UBX domain-containing protein 9", "UBXD9", "UBXN9", "alveolar soft part sarcoma chromosomal region candidate gene 1 protein", "alveolar soft part sarcoma chromosome region, candidate 1", "alveolar soft part sarcoma locus", "renal cell carcinoma gene on chromosome 17", "renal cell carcinoma, papillary, 17", "renal papillary cell carcinoma protein 17", "tether containing UBX domain for GLUT4" ], "secondaryIds": [ "RGD:1344232" ], "genomeLocations": [ { "strand": "+", "endPosition": 82017406, "chromosome": "17", "assembly": "GRCh38", "startPosition": 81976807 } ], "primaryId": "HGNC:13825", "crossReferences": [ { "id": "ENSEMBL:ENSG00000169696" }, { "id": "NCBI_Gene:79058" }, { "id": "PANTHER:PTHR46467" }, { "id": "UniProtKB:Q9BZE9" }, { "pages": [ "gene/references" ], "id": "RGD:1344232" }, { "pages": [ "gene" ], "id": "HGNC:13825" }, { "id": "RGD:1344232" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASRGL1", "geneSynopsis": "Enables asparaginase activity and beta-aspartyl-peptidase activity. Involved in asparagine catabolic process via L-aspartate. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "asparaginase and isoaspartyl peptidase 1", "basicGeneticEntity": { "synonyms": [ "ALP", "ALP1", "CRASH", "FLJ22316", "L-asparaginase", "L-asparagine amidohydrolase", "asparaginase like 1", "asparaginase-like 1 protein", "asparaginase-like protein 1", "beta-aspartyl-peptidase", "isoaspartyl dipeptidase", "isoaspartyl peptidase/L-asparaginase", "testis secretory sperm-binding protein Li 242mP" ], "secondaryIds": [ "RGD:1343525" ], "genomeLocations": [ { "strand": "+", "endPosition": 62401431, "chromosome": "11", "assembly": "GRCh38", "startPosition": 62337439 } ], "primaryId": "HGNC:16448", "crossReferences": [ { "id": "ENSEMBL:ENSG00000162174" }, { "id": "NCBI_Gene:80150" }, { "id": "PANTHER:PTHR10188" }, { "id": "UniProtKB:Q7L266" }, { "pages": [ "gene/references" ], "id": "RGD:1343525" }, { "pages": [ "gene" ], "id": "HGNC:16448" }, { "id": "RGD:1343525" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASS1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "argininosuccinate synthase 1", "basicGeneticEntity": { "synonyms": [ "ASS", "CTLN1", "argininosuccinate synthase", "argininosuccinate synthetase 1", "arginosuccinate synthetase", "citrulline--aspartate ligase", "citrulline-aspartate ligase" ], "secondaryIds": [ "RGD:736136" ], "genomeLocations": [ { "strand": "+", "endPosition": 130502361, "chromosome": "9", "assembly": "GRCh38", "startPosition": 130443282 } ], "primaryId": "HGNC:758", "crossReferences": [ { "id": "ENSEMBL:ENSG00000130707" }, { "id": "NCBI_Gene:445" }, { "id": "PANTHER:PTHR11587" }, { "id": "UniProtKB:P00966" }, { "pages": [ "gene/references" ], "id": "RGD:736136" }, { "pages": [ "gene" ], "id": "HGNC:758" }, { "id": "RGD:736136" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASS1P1", "geneSynopsis": "INTERACTS WITH sodium arsenite; thiram", "soTermId": "SO:0000336", "name": "argininosuccinate synthetase 1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ASSP1" ], "secondaryIds": [ "RGD:1350105" ], "genomeLocations": [ { "strand": "-", "endPosition": 25024584, "chromosome": "6", "assembly": "GRCh38", "startPosition": 25023009 } ], "primaryId": "HGNC:759", "crossReferences": [ { "id": "ENSEMBL:ENSG00000220517" }, { "id": "NCBI_Gene:442167" }, { "pages": [ "gene/references" ], "id": "RGD:1350105" }, { "pages": [ "gene" ], "id": "HGNC:759" }, { "id": "RGD:1350105" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASS1P10", "geneSynopsis": "INTERACTS WITH cadmium dichloride", "soTermId": "SO:0000336", "name": "argininosuccinate synthetase 1 pseudogene 10", "basicGeneticEntity": { "synonyms": [ "ASSP10" ], "secondaryIds": [ "RGD:1348690" ], "genomeLocations": [ { "strand": "+", "endPosition": 145230285, "chromosome": "5", "assembly": "GRCh38", "startPosition": 145228711 } ], "primaryId": "HGNC:760", "crossReferences": [ { "id": "ENSEMBL:ENSG00000215325" }, { "id": "NCBI_Gene:455" }, { "pages": [ "gene/references" ], "id": "RGD:1348690" }, { "pages": [ "gene" ], "id": "HGNC:760" }, { "id": "RGD:1348690" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASS1P11", "geneSynopsis": "INTERACTS WITH butan-1-ol; N-methyl-4-phenylpyridinium; sulforaphane", "soTermId": "SO:0000336", "name": "argininosuccinate synthetase 1 pseudogene 11", "basicGeneticEntity": { "synonyms": [ "ASSP11" ], "secondaryIds": [ "RGD:1345984" ], "genomeLocations": [ { "strand": "-", "endPosition": 21221530, "chromosome": "7", "assembly": "GRCh38", "startPosition": 21219978 } ], "primaryId": "HGNC:761", "crossReferences": [ { "id": "ENSEMBL:ENSG00000225308" }, { "id": "NCBI_Gene:340274" }, { "pages": [ "gene/references" ], "id": "RGD:1345984" }, { "pages": [ "gene" ], "id": "HGNC:761" }, { "id": "RGD:1345984" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASS1P12", "geneSynopsis": "INTERACTS WITH acrylamide; aristolochic acid A", "soTermId": "SO:0000336", "name": "argininosuccinate synthetase 1 pseudogene 12", "basicGeneticEntity": { "synonyms": [ "ASSP12" ], "secondaryIds": [ "RGD:1344256" ], "genomeLocations": [ { "strand": "+", "endPosition": 32947460, "chromosome": "9", "assembly": "GRCh38", "startPosition": 32945894 } ], "primaryId": "HGNC:762", "crossReferences": [ { "id": "ENSEMBL:ENSG00000237437" }, { "id": "NCBI_Gene:392302" }, { "pages": [ "gene/references" ], "id": "RGD:1344256" }, { "pages": [ "gene" ], "id": "HGNC:762" }, { "id": "RGD:1344256" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASS1P13", "geneSynopsis": "INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; bisphenol A; dexamethasone", "soTermId": "SO:0000336", "name": "argininosuccinate synthetase 1 pseudogene 13", "basicGeneticEntity": { "synonyms": [ "AP003057.1", "ASSP13", "argininosuccinate synthase 1 (ASS1) pseudogene" ], "secondaryIds": [ "RGD:1353562" ], "genomeLocations": [ { "strand": "+", "endPosition": 107177767, "chromosome": "11", "assembly": "GRCh38", "startPosition": 107176213 } ], "primaryId": "HGNC:763", "crossReferences": [ { "id": "ENSEMBL:ENSG00000255353" }, { "id": "NCBI_Gene:341230" }, { "pages": [ "gene/references" ], "id": "RGD:1353562" }, { "pages": [ "gene" ], "id": "HGNC:763" }, { "id": "RGD:1353562" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASS1P14", "soTermId": "SO:0000336", "name": "argininosuccinate synthetase 1 pseudogene 14", "basicGeneticEntity": { "synonyms": [ "AC087311.1", "ASSP14", "argininosuccinate synthase 1 (ASS1) pseudogene" ], "secondaryIds": [ "RGD:1351034" ], "genomeLocations": [ { "strand": "+", "endPosition": 32987301, "chromosome": "12", "assembly": "GRCh38", "startPosition": 32985738 } ], "primaryId": "HGNC:764", "crossReferences": [ { "id": "ENSEMBL:ENSG00000257316" }, { "id": "NCBI_Gene:459" }, { "pages": [ "gene/references" ], "id": "RGD:1351034" }, { "pages": [ "gene" ], "id": "HGNC:764" }, { "id": "RGD:1351034" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASS1P2", "soTermId": "SO:0000336", "name": "argininosuccinate synthetase 1 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ASSP2" ], "secondaryIds": [ "RGD:1354180" ], "genomeLocations": [ { "strand": "-", "endPosition": 38811756, "chromosome": "2", "assembly": "GRCh38", "startPosition": 38810215 } ], "primaryId": "HGNC:765", "crossReferences": [ { "id": "ENSEMBL:ENSG00000223922" }, { "id": "NCBI_Gene:447" }, { "pages": [ "gene/references" ], "id": "RGD:1354180" }, { "pages": [ "gene" ], "id": "HGNC:765" }, { "id": "RGD:1354180" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASS1P3", "soTermId": "SO:0000336", "name": "argininosuccinate synthetase 1 pseudogene 3", "basicGeneticEntity": { "synonyms": [ "AL353705.3", "ASSP3", "argininosuccinate synthetase (ASS) pseudogene" ], "secondaryIds": [ "RGD:1353180" ], "genomeLocations": [ { "strand": "+", "endPosition": 78179741, "chromosome": "9", "assembly": "GRCh38", "startPosition": 78178162 } ], "primaryId": "HGNC:766", "crossReferences": [ { "id": "ENSEMBL:ENSG00000233947" }, { "id": "NCBI_Gene:158452" }, { "pages": [ "gene/references" ], "id": "RGD:1353180" }, { "pages": [ "gene" ], "id": "HGNC:766" }, { "id": "RGD:1353180" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASS1P4", "geneSynopsis": "INTERACTS WITH cadmium dichloride", "soTermId": "SO:0000336", "name": "argininosuccinate synthetase 1 pseudogene 4", "basicGeneticEntity": { "synonyms": [ "ASSP4" ], "secondaryIds": [ "RGD:1345150" ], "genomeLocations": [ { "strand": "+", "endPosition": 3368609, "chromosome": "X", "assembly": "GRCh38", "startPosition": 3367048 } ], "primaryId": "HGNC:767", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213487" }, { "id": "NCBI_Gene:449" }, { "pages": [ "gene/references" ], "id": "RGD:1345150" }, { "pages": [ "gene" ], "id": "HGNC:767" }, { "id": "RGD:1345150" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASS1P5", "geneSynopsis": "INTERACTS WITH aristolochic acid A", "soTermId": "SO:0000336", "name": "argininosuccinate synthetase 1 pseudogene 5", "basicGeneticEntity": { "synonyms": [ "ASSP5" ], "secondaryIds": [ "RGD:1346261" ], "genomeLocations": [ { "strand": "+", "endPosition": 115666339, "chromosome": "X", "assembly": "GRCh38", "startPosition": 115664793 } ], "primaryId": "HGNC:768", "crossReferences": [ { "id": "ENSEMBL:ENSG00000227881" }, { "id": "NCBI_Gene:450" }, { "pages": [ "gene/references" ], "id": "RGD:1346261" }, { "pages": [ "gene" ], "id": "HGNC:768" }, { "id": "RGD:1346261" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASS1P6", "soTermId": "SO:0000336", "name": "argininosuccinate synthetase 1 pseudogene 6", "basicGeneticEntity": { "synonyms": [ "ASSP6" ], "secondaryIds": [ "RGD:1349533" ], "genomeLocations": [ { "strand": "-", "endPosition": 11923778, "chromosome": "Y", "assembly": "GRCh38", "startPosition": 11922285 } ], "primaryId": "HGNC:769", "crossReferences": [ { "id": "ENSEMBL:ENSG00000215583" }, { "id": "NCBI_Gene:451" }, { "pages": [ "gene/references" ], "id": "RGD:1349533" }, { "pages": [ "gene" ], "id": "HGNC:769" }, { "id": "RGD:1349533" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASS1P7", "geneSynopsis": "INTERACTS WITH N-methyl-4-phenylpyridinium", "soTermId": "SO:0000336", "name": "argininosuccinate synthetase 1 pseudogene 7", "basicGeneticEntity": { "synonyms": [ "ASSP7" ], "secondaryIds": [ "RGD:1602905" ], "genomeLocations": [ { "strand": "-", "endPosition": 177298488, "chromosome": "3", "assembly": "GRCh38", "startPosition": 177296923 } ], "primaryId": "HGNC:770", "crossReferences": [ { "id": "ENSEMBL:ENSG00000236893" }, { "id": "NCBI_Gene:339845" }, { "pages": [ "gene/references" ], "id": "RGD:1602905" }, { "pages": [ "gene" ], "id": "HGNC:770" }, { "id": "RGD:1602905" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASS1P8", "soTermId": "SO:0000336", "name": "argininosuccinate synthetase 1 pseudogene 8", "basicGeneticEntity": { "synonyms": [ "ASSP8" ], "secondaryIds": [ "RGD:1345680" ], "genomeLocations": [ { "strand": "-", "endPosition": 148527154, "chromosome": "4", "assembly": "GRCh38", "startPosition": 148526260 } ], "primaryId": "HGNC:771", "crossReferences": [ { "id": "ENSEMBL:ENSG00000251418" }, { "id": "NCBI_Gene:453" }, { "pages": [ "gene/references" ], "id": "RGD:1345680" }, { "pages": [ "gene" ], "id": "HGNC:771" }, { "id": "RGD:1345680" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASS1P9", "geneSynopsis": "INTERACTS WITH N-methyl-4-phenylpyridinium", "soTermId": "SO:0000336", "name": "argininosuccinate synthetase 1 pseudogene 9", "basicGeneticEntity": { "synonyms": [ "ASSP9" ], "secondaryIds": [ "RGD:1348330" ], "genomeLocations": [ { "strand": "+", "endPosition": 53860632, "chromosome": "5", "assembly": "GRCh38", "startPosition": 53859064 } ], "primaryId": "HGNC:772", "crossReferences": [ { "id": "ENSEMBL:ENSG00000217791" }, { "id": "NCBI_Gene:454" }, { "pages": [ "gene/references" ], "id": "RGD:1348330" }, { "pages": [ "gene" ], "id": "HGNC:772" }, { "id": "RGD:1348330" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASTE1", "geneSynopsis": "Enables 3' overhang single-stranded DNA endodeoxyribonuclease activity. Involved in double-strand break repair via homologous recombination and double-strand break repair via nonhomologous end joining. Implicated in Lynch syndrome and mismatch repair cancer syndrome. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "asteroid structure-specific endonuclease 1", "basicGeneticEntity": { "synonyms": [ "HT001", "MGC129980", "asteroid homolog 1", "asteroid homolog 1 (Drosophila)", "protein asteroid homolog 1", "single-strand DNA endonuclease ASTE1" ], "secondaryIds": [ "RGD:1606299" ], "genomeLocations": [ { "strand": "-", "endPosition": 131027649, "chromosome": "3", "assembly": "GRCh38", "startPosition": 131013066 } ], "primaryId": "HGNC:25021", "crossReferences": [ { "id": "ENSEMBL:ENSG00000034533" }, { "id": "NCBI_Gene:28990" }, { "id": "PANTHER:PTHR15665" }, { "id": "UniProtKB:Q2TB18" }, { "pages": [ "gene/references" ], "id": "RGD:1606299" }, { "pages": [ "gene" ], "id": "HGNC:25021" }, { "id": "RGD:1606299" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASTILCS", "soTermId": "SO:0001263", "name": "antisense transcript of PTP4A3, liver carcinoma survival associated", "basicGeneticEntity": { "synonyms": [ "AC100803.2", "LOC105375790", "novel transcript, antisense to PTP4A3", "uncharacterized LOC105375790" ], "secondaryIds": [ "RGD:38634811" ], "genomeLocations": [ { "strand": "-", "endPosition": 141392621, "chromosome": "8", "assembly": "GRCh38", "startPosition": 141389868 } ], "primaryId": "HGNC:56718", "crossReferences": [ { "id": "ENSEMBL:ENSG00000244998" }, { "id": "NCBI_Gene:105375790" }, { "pages": [ "gene/references" ], "id": "RGD:38634811" }, { "pages": [ "gene" ], "id": "HGNC:56718" }, { "id": "RGD:38634811" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASTL", "geneSynopsis": "Predicted to enable aspartic-type peptidase activity; glutamic-type peptidase activity; and metalloendopeptidase activity. Predicted to be involved in several processes, including negative regulation of binding activity of sperm to zona pellucida; positive regulation of protein processing; and prevention of polyspermy. Predicted to be located in cortical granule and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "astacin like metalloendopeptidase", "basicGeneticEntity": { "synonyms": [ "MGC129843", "OOMD11", "OZEMA11", "SAS1B", "ZP2-proteinase", "astacin-like metallo-endopeptidase (M12 family)", "astacin-like metalloendopeptidase", "astacin-like metalloendopeptidase (M12 family)", "oocyte astacin", "ovastacin", "sperm acrosomal SLLP1 binding" ], "secondaryIds": [ "RGD:1349169" ], "genomeLocations": [ { "strand": "-", "endPosition": 96138564, "chromosome": "2", "assembly": "GRCh38", "startPosition": 96122818 } ], "primaryId": "HGNC:31704", "crossReferences": [ { "id": "ENSEMBL:ENSG00000188886" }, { "id": "NCBI_Gene:431705" }, { "id": "PANTHER:PTHR10127" }, { "id": "UniProtKB:Q6HA08" }, { "pages": [ "gene/references" ], "id": "RGD:1349169" }, { "pages": [ "gene" ], "id": "HGNC:31704" }, { "id": "RGD:1349169" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASTN1", "geneSynopsis": "Astrotactin is a neuronal adhesion molecule required for glial-guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum, and olfactory bulb (Fink et al., 1995).[supplied by OMIM, Jun 2009]", "soTermId": "SO:0001217", "name": "astrotactin 1", "basicGeneticEntity": { "synonyms": [ "ASTN", "KIAA1747", "astrotactin-1" ], "secondaryIds": [ "RGD:1602904" ], "genomeLocations": [ { "strand": "-", "endPosition": 177164973, "chromosome": "1", "assembly": "GRCh38", "startPosition": 176857302 } ], "primaryId": "HGNC:773", "crossReferences": [ { "id": "ENSEMBL:ENSG00000152092" }, { "id": "NCBI_Gene:460" }, { "id": "PANTHER:PTHR16592" }, { "id": "UniProtKB:O14525" }, { "pages": [ "gene/references" ], "id": "RGD:1602904" }, { "pages": [ "gene" ], "id": "HGNC:773" }, { "id": "RGD:1602904" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASTN2", "geneSynopsis": "This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]", "soTermId": "SO:0001217", "name": "astrotactin 2", "basicGeneticEntity": { "synonyms": [ "KIAA0634", "astrotactin-2", "bA264C15.1", "bA67K19.1" ], "secondaryIds": [ "RGD:1314130" ], "genomeLocations": [ { "strand": "-", "endPosition": 117415070, "chromosome": "9", "assembly": "GRCh38", "startPosition": 116423112 } ], "primaryId": "HGNC:17021", "crossReferences": [ { "id": "ENSEMBL:ENSG00000148219" }, { "id": "NCBI_Gene:23245" }, { "id": "PANTHER:PTHR16592" }, { "id": "UniProtKB:O75129" }, { "pages": [ "gene/references" ], "id": "RGD:1314130" }, { "pages": [ "gene" ], "id": "HGNC:17021" }, { "id": "RGD:1314130" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASTN2-AS1", "geneSynopsis": "INTERACTS WITH chloropicrin; temozolomide", "soTermId": "SO:0001263", "name": "ASTN2 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:8698738" ], "genomeLocations": [ { "strand": "+", "endPosition": 116564034, "chromosome": "9", "assembly": "GRCh38", "startPosition": 116504283 } ], "primaryId": "HGNC:51175", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229105" }, { "id": "NCBI_Gene:100128505" }, { "pages": [ "gene/references" ], "id": "RGD:8698738" }, { "pages": [ "gene" ], "id": "HGNC:51175" }, { "id": "RGD:8698738" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASXL1", "geneSynopsis": "This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]", "soTermId": "SO:0001217", "name": "ASXL transcriptional regulator 1", "basicGeneticEntity": { "synonyms": [ "BOPS", "KIAA0978", "MDS", "MGC117280", "MGC71111", "additional sex combs like 1", "additional sex combs like 1, transcriptional regulator", "additional sex combs like transcriptional regulator 1", "additional sex combs-like protein 1", "polycomb group protein ASXL1", "putative Polycomb group protein ASXL1" ], "secondaryIds": [ "RGD:1344611" ], "genomeLocations": [ { "strand": "+", "endPosition": 32439319, "chromosome": "20", "assembly": "GRCh38", "startPosition": 32358266 } ], "primaryId": "HGNC:18318", "crossReferences": [ { "id": "ENSEMBL:ENSG00000171456" }, { "id": "NCBI_Gene:171023" }, { "id": "PANTHER:PTHR13578" }, { "id": "UniProtKB:Q8IXJ9" }, { "pages": [ "gene/references" ], "id": "RGD:1344611" }, { "pages": [ "gene" ], "id": "HGNC:18318" }, { "id": "RGD:1344611" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASXL2", "geneSynopsis": "This gene encodes a member of a family of epigenetic regulators that bind various histone-modifying enzymes and are involved in the assembly of transcription factors at specific genomic loci. Naturally occurring mutations in this gene are associated with cancer in several tissue types (breast, bladder, pancreas, ovary, prostate, and blood). This gene plays an important role in neurodevelopment, cardiac function, adipogenesis, and osteoclastogenesis. [provided by RefSeq, Feb 2017]", "soTermId": "SO:0001217", "name": "ASXL transcriptional regulator 2", "basicGeneticEntity": { "synonyms": [ "ASXH2", "DKFZp686C1968", "FLJ10898", "KIAA1685", "SHAPNS", "additional sex combs like 2", "additional sex combs like 2, transcriptional regulator", "additional sex combs like transcriptional regulator 2", "additional sex combs-like protein 2", "polycomb group protein ASXH2", "putative Polycomb group protein ASXL2" ], "secondaryIds": [ "RGD:1312315" ], "genomeLocations": [ { "strand": "-", "endPosition": 25878487, "chromosome": "2", "assembly": "GRCh38", "startPosition": 25733753 } ], "primaryId": "HGNC:23805", "crossReferences": [ { "id": "ENSEMBL:ENSG00000143970" }, { "id": "NCBI_Gene:55252" }, { "id": "PANTHER:PTHR13578" }, { "id": "UniProtKB:Q76L83" }, { "pages": [ "gene/references" ], "id": "RGD:1312315" }, { "pages": [ "gene" ], "id": "HGNC:23805" }, { "id": "RGD:1312315" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASXL3", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ASXL transcriptional regulator 3", "basicGeneticEntity": { "synonyms": [ "BRPS", "KIAA1713", "additional sex combs like 3", "additional sex combs like 3, transcriptional regulator", "additional sex combs like transcriptional regulator 3", "additional sex combs-like protein 3", "putative Polycomb group protein ASXL3" ], "secondaryIds": [ "RGD:1344717" ], "genomeLocations": [ { "strand": "+", "endPosition": 33751195, "chromosome": "18", "assembly": "GRCh38", "startPosition": 33578219 } ], "primaryId": "HGNC:29357", "crossReferences": [ { "id": "ENSEMBL:ENSG00000141431" }, { "id": "NCBI_Gene:80816" }, { "id": "PANTHER:PTHR13578" }, { "id": "UniProtKB:Q9C0F0" }, { "pages": [ "gene/references" ], "id": "RGD:1344717" }, { "pages": [ "gene" ], "id": "HGNC:29357" }, { "id": "RGD:1344717" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASXL3-DT", "soTermId": "SO:0001263", "name": "ASXL3 divergent transcript", "basicGeneticEntity": { "secondaryIds": [ "RGD:39939099" ], "primaryId": "HGNC:55290", "crossReferences": [ { "id": "NCBI_Gene:118827808" }, { "pages": [ "gene/references" ], "id": "RGD:39939099" }, { "pages": [ "gene" ], "id": "HGNC:55290" }, { "id": "RGD:39939099" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ASZ1", "geneSynopsis": "Predicted to be involved in male meiotic nuclear division; spermatogenesis; and transposable element silencing. Predicted to be located in cytoplasm. Predicted to be active in pi-body. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ankyrin repeat, SAM and basic leucine zipper domain containing 1", "basicGeneticEntity": { "synonyms": [ "4933400N19Rik", "ALP1", "ANKL1", "C7orf7", "CT1.19", "GASZ", "MGC26634", "Orf3", "ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1", "ankyrin-like 1", "ankyrin-like protein 1", "germ cell-specific ankyrin, SAM and basic leucine zipper domain-containing protein" ], "secondaryIds": [ "RGD:1348719" ], "genomeLocations": [ { "strand": "-", "endPosition": 117428123, "chromosome": "7", "assembly": "GRCh38", "startPosition": 117363222 } ], "primaryId": "HGNC:1350", "crossReferences": [ { "id": "ENSEMBL:ENSG00000154438" }, { "id": "NCBI_Gene:136991" }, { "id": "PANTHER:PTHR24157" }, { "id": "UniProtKB:Q8WWH4" }, { "pages": [ "gene/references" ], "id": "RGD:1348719" }, { "pages": [ "gene" ], "id": "HGNC:1350" }, { "id": "RGD:1348719" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATAD1", "geneSynopsis": "Predicted to enable ATP hydrolysis activity. Involved in extraction of mislocalized protein from mitochondrial outer membrane. Located in mitochondrial outer membrane and peroxisomal membrane. Implicated in hyperekplexia 4. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ATPase family AAA domain containing 1", "basicGeneticEntity": { "synonyms": [ "AFDC1", "ATPase family AAA domain-containing protein 1", "ATPase family, AAA domain containing 1", "FLJ14600", "FNP001", "HKPX4", "Msp1", "THORASE", "hATAD1", "outer mitochondrial transmembrane helix translocase" ], "secondaryIds": [ "RGD:1318420" ], "genomeLocations": [ { "strand": "-", "endPosition": 87842355, "chromosome": "10", "assembly": "GRCh38", "startPosition": 87751512 } ], "primaryId": "HGNC:25903", "crossReferences": [ { "id": "ENSEMBL:ENSG00000138138" }, { "id": "NCBI_Gene:84896" }, { "id": "PANTHER:PTHR45644" }, { "id": "UniProtKB:Q8NBU5" }, { "pages": [ "gene/references" ], "id": "RGD:1318420" }, { "pages": [ "gene" ], "id": "HGNC:25903" }, { "id": "RGD:1318420" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATAD2", "geneSynopsis": "A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase family AAA domain containing 2", "basicGeneticEntity": { "synonyms": [ "AAA nuclear coregulator cancer-associated protein", "ANCCA", "ATPase family AAA domain-containing protein 2", "ATPase family, AAA domain containing 2", "CT137", "DKFZp667N1320", "LOC105375737", "MGC131938", "MGC142216", "MGC29843", "MGC5254", "PRO2000", "uncharacterized LOC105375737" ], "secondaryIds": [ "RGD:1312522" ], "genomeLocations": [ { "strand": "-", "endPosition": 123416350, "chromosome": "8", "assembly": "GRCh38", "startPosition": 123319850 } ], "primaryId": "HGNC:30123", "crossReferences": [ { "id": "ENSEMBL:ENSG00000156802" }, { "id": "NCBI_Gene:29028" }, { "id": "PANTHER:PTHR23069" }, { "id": "UniProtKB:Q6PL18" }, { "pages": [ "gene/references" ], "id": "RGD:1312522" }, { "pages": [ "gene" ], "id": "HGNC:30123" }, { "id": "RGD:1312522" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATAD2B", "geneSynopsis": "The protein encoded by this gene belongs to the AAA ATPase family. This family member includes an N-terminal bromodomain. It has been found to be localized to the nucleus, partly to replication sites, consistent with a chromatin-related function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]", "soTermId": "SO:0001217", "name": "ATPase family AAA domain containing 2B", "basicGeneticEntity": { "synonyms": [ "ATPase family AAA domain-containing protein 2B", "ATPase family, AAA domain containing 2B", "KIAA1240", "MGC88424" ], "secondaryIds": [ "RGD:1604011" ], "genomeLocations": [ { "strand": "-", "endPosition": 23927164, "chromosome": "2", "assembly": "GRCh38", "startPosition": 23677969 } ], "primaryId": "HGNC:29230", "crossReferences": [ { "id": "ENSEMBL:ENSG00000119778" }, { "id": "NCBI_Gene:54454" }, { "id": "PANTHER:PTHR23069" }, { "id": "UniProtKB:Q9ULI0" }, { "pages": [ "gene/references" ], "id": "RGD:1604011" }, { "pages": [ "gene" ], "id": "HGNC:29230" }, { "id": "RGD:1604011" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATAD3A", "geneSynopsis": "This gene encodes a ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. This gene is a member of the ATPase family AAA-domain containing 3 gene family which, in humans, includes two other paralogs. Naturally occurring mutations in this gene are associated with distinct neurological syndromes including Harel-Yoon syndrome. High-level expression of this gene is associated with poor survival in breast cancer patients. A homozygous knockout of the orthologous gene in mice results in embryonic lethality at day 7.5 due to growth retardation and defective development of the trophoblast lineage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]", "soTermId": "SO:0001217", "name": "ATPase family AAA domain containing 3A", "basicGeneticEntity": { "synonyms": [ "ATPase family AAA domain-containing protein 3A", "ATPase family, AAA domain containing 3A", "FLJ10709", "FLJ35514", "HAYOS", "PHRINL" ], "secondaryIds": [ "RGD:1314304" ], "genomeLocations": [ { "strand": "+", "endPosition": 1534686, "chromosome": "1", "assembly": "GRCh38", "startPosition": 1512147 } ], "primaryId": "HGNC:25567", "crossReferences": [ { "id": "ENSEMBL:ENSG00000197785" }, { "id": "NCBI_Gene:55210" }, { "id": "PANTHER:PTHR23075" }, { "id": "UniProtKB:Q9NVI7" }, { "pages": [ "gene/references" ], "id": "RGD:1314304" }, { "pages": [ "gene" ], "id": "HGNC:25567" }, { "id": "RGD:1314304" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATAD3B", "geneSynopsis": "The protein encoded by this gene is localized to the mitochondrial inner membrane, where it can bind to a highly-related protein, ATAD3A. ATAD3A appears to interact with matrix nucleoid complexes, and the encoded protein negatively regulates that interaction. This gene is expressed almost exclusively in pluripotent embryonic stem cells and some cancer cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]", "soTermId": "SO:0001217", "name": "ATPase family AAA domain containing 3B", "basicGeneticEntity": { "synonyms": [ "AAA-ATPase TOB3", "AAA-TOB3", "ATPase family AAA domain-containing protein 3B", "ATPase family, AAA domain containing 3B", "KIAA1273", "TOB3" ], "secondaryIds": [ "RGD:1347003" ], "genomeLocations": [ { "strand": "+", "endPosition": 1509466, "chromosome": "1", "assembly": "GRCh38", "startPosition": 1471756 } ], "primaryId": "HGNC:24007", "crossReferences": [ { "id": "ENSEMBL:ENSG00000160072" }, { "id": "NCBI_Gene:83858" }, { "id": "PANTHER:PTHR23075" }, { "id": "UniProtKB:Q5T9A4" }, { "pages": [ "gene/references" ], "id": "RGD:1347003" }, { "pages": [ "gene" ], "id": "HGNC:24007" }, { "id": "RGD:1347003" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATAD3C", "geneSynopsis": "Predicted to enable ATP binding activity and ATP hydrolysis activity. Predicted to be involved in mitochondrion organization. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ATPase family AAA domain containing 3C", "basicGeneticEntity": { "synonyms": [ "ATPase family AAA domain-containing protein 3C", "ATPase family, AAA domain containing 3A", "ATPase family, AAA domain containing 3C", "FLJ34599", "FLJ37183" ], "secondaryIds": [ "RGD:1604719" ], "genomeLocations": [ { "strand": "+", "endPosition": 1470163, "chromosome": "1", "assembly": "GRCh38", "startPosition": 1449689 } ], "primaryId": "HGNC:32151", "crossReferences": [ { "id": "ENSEMBL:ENSG00000215915" }, { "id": "NCBI_Gene:219293" }, { "id": "PANTHER:PTHR23075" }, { "id": "UniProtKB:Q5T2N8" }, { "pages": [ "gene/references" ], "id": "RGD:1604719" }, { "pages": [ "gene" ], "id": "HGNC:32151" }, { "id": "RGD:1604719" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATAD5", "geneSynopsis": "Enables DNA clamp unloader activity. Involved in positive regulation of DNA replication and positive regulation of cell cycle G2/M phase transition. Part of Elg1 RFC-like complex. Biomarker of neurilemmoma. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ATPase family AAA domain containing 5", "basicGeneticEntity": { "synonyms": [ "ATPase family AAA domain-containing protein 5", "ATPase family, AAA domain containing 5", "C17orf41", "ELG1", "FLJ12735", "FRAG1", "chromosome fragility associated gene 1", "chromosome fragility-associated gene 1 protein", "enhanced level of genomic instability 1 homolog" ], "secondaryIds": [ "RGD:1605345" ], "genomeLocations": [ { "strand": "+", "endPosition": 30895869, "chromosome": "17", "assembly": "GRCh38", "startPosition": 30831966 } ], "primaryId": "HGNC:25752", "crossReferences": [ { "id": "ENSEMBL:ENSG00000176208" }, { "id": "NCBI_Gene:79915" }, { "id": "PANTHER:PTHR23389" }, { "id": "UniProtKB:Q96QE3" }, { "pages": [ "gene/references" ], "id": "RGD:1605345" }, { "pages": [ "gene" ], "id": "HGNC:25752" }, { "id": "RGD:1605345" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATAT1", "geneSynopsis": "This gene encodes a protein that localizes to clathrin-coated pits, where it acetylates alpha tubulin on lysine 40. This process may be important in microtubule growth, for instance during chemotaxis and the formation of cilium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]", "soTermId": "SO:0001217", "name": "alpha tubulin acetyltransferase 1", "basicGeneticEntity": { "synonyms": [ "C6orf134", "DKFZp547J097", "FLJ13158", "MEC17", "Nbla00487", "TAT", "acetyltransferase MEC-17", "acetyltransferase mec-17 homolog", "alpha-TAT", "alpha-TAT1", "alpha-tubulin N-acetyltransferase", "alpha-tubulin N-acetyltransferase 1", "hypothetical protein LOC79969" ], "secondaryIds": [ "RGD:1347627" ], "genomeLocations": [ { "strand": "+", "endPosition": 30646835, "chromosome": "6", "assembly": "GRCh38", "startPosition": 30626842 } ], "primaryId": "HGNC:21186", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229061" }, { "id": "ENSEMBL:ENSG00000137343" }, { "id": "ENSEMBL:ENSG00000206488" }, { "id": "ENSEMBL:ENSG00000235658" }, { "id": "ENSEMBL:ENSG00000234549" }, { "id": "ENSEMBL:ENSG00000231257" }, { "id": "ENSEMBL:ENSG00000223752" }, { "id": "NCBI_Gene:79969" }, { "id": "PANTHER:PTHR12327" }, { "id": "UniProtKB:Q5SQI0" }, { "pages": [ "gene/references" ], "id": "RGD:1347627" }, { "pages": [ "gene" ], "id": "HGNC:21186" }, { "id": "RGD:1347627" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATCAY", "geneSynopsis": "This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATCAY kinesin light chain interacting caytaxin", "basicGeneticEntity": { "synonyms": [ "ATCAY, caytaxin", "BNIP-2-homolgy", "BNIP-2-homology", "BNIP-H", "CLAC", "Cayman ataxia", "KIAA1872", "ataxia cayman type protein", "ataxia cerebellar Cayman type", "ataxia, cerebellar, Cayman type", "caytaxin" ], "secondaryIds": [ "RGD:1319593" ], "genomeLocations": [ { "strand": "+", "endPosition": 3928082, "chromosome": "19", "assembly": "GRCh38", "startPosition": 3879864 } ], "primaryId": "HGNC:779", "crossReferences": [ { "id": "ENSEMBL:ENSG00000167654" }, { "id": "NCBI_Gene:85300" }, { "id": "PANTHER:PTHR12112" }, { "id": "UniProtKB:Q86WG3" }, { "pages": [ "gene/references" ], "id": "RGD:1319593" }, { "pages": [ "gene" ], "id": "HGNC:779" }, { "id": "RGD:1319593" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATE1", "geneSynopsis": "This gene encodes an arginyltransferase, an enzyme that is involved in posttranslational conjugation of arginine to N-terminal aspartate or glutamate residues. Conjugation of arginine to the N-terminal aspartate or glutamate targets proteins for ubiquitin-dependent degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]", "soTermId": "SO:0001217", "name": "arginyltransferase 1", "basicGeneticEntity": { "synonyms": [ "MGC26724", "R-transferase 1", "arginine-tRNA--protein transferase 1", "arginyl-tRNA--protein transferase 1", "arginyl-tRNA-protein transferase" ], "secondaryIds": [ "RGD:1319626" ], "genomeLocations": [ { "strand": "-", "endPosition": 121928801, "chromosome": "10", "assembly": "GRCh38", "startPosition": 121709393 } ], "primaryId": "HGNC:782", "crossReferences": [ { "id": "ENSEMBL:ENSG00000107669" }, { "id": "NCBI_Gene:11101" }, { "id": "PANTHER:PTHR21367" }, { "id": "UniProtKB:O95260" }, { "pages": [ "gene/references" ], "id": "RGD:1319626" }, { "pages": [ "gene" ], "id": "HGNC:782" }, { "id": "RGD:1319626" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATE1OSP", "geneSynopsis": "Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm and nuclear speck. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0000336", "name": "ATE1 opposite strand, pseudogene", "basicGeneticEntity": { "synonyms": [ "ATE1 antisense RNA 1", "ATE1-AS1" ], "secondaryIds": [ "RGD:8165677" ], "genomeLocations": [ { "strand": "+", "endPosition": 121952020, "chromosome": "10", "assembly": "GRCh38", "startPosition": 121928312 } ], "primaryId": "HGNC:49496", "crossReferences": [ { "id": "ENSEMBL:ENSG00000293468" }, { "id": "ENSEMBL:ENSG00000226864" }, { "id": "NCBI_Gene:100130887" }, { "pages": [ "gene/references" ], "id": "RGD:8165677" }, { "pages": [ "gene" ], "id": "HGNC:49496" }, { "id": "RGD:8165677" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATF1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "activating transcription factor 1", "basicGeneticEntity": { "synonyms": [ "EWS-ATF1", "FUS/ATF-1", "TREB36", "cAMP-dependent transcription factor ATF-1", "cyclic AMP-dependent transcription factor ATF-1" ], "secondaryIds": [ "RGD:1316513" ], "genomeLocations": [ { "strand": "+", "endPosition": 50821162, "chromosome": "12", "assembly": "GRCh38", "startPosition": 50763459 } ], "primaryId": "HGNC:783", "crossReferences": [ { "id": "ENSEMBL:ENSG00000123268" }, { "id": "NCBI_Gene:466" }, { "id": "PANTHER:PTHR45879" }, { "id": "UniProtKB:P18846" }, { "pages": [ "gene/references" ], "id": "RGD:1316513" }, { "pages": [ "gene" ], "id": "HGNC:783" }, { "id": "RGD:1316513" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATF1-AS1", "soTermId": "SO:0001263", "name": "ATF1 and DIP2B antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LOC124902932", "uncharacterized LOC124902932" ], "secondaryIds": [ "RGD:151672467" ], "genomeLocations": [ { "strand": "-", "endPosition": 50757650, "chromosome": "12", "assembly": "GRCh38", "startPosition": 50743576 } ], "primaryId": "HGNC:58960", "crossReferences": [ { "id": "NCBI_Gene:124902932" }, { "pages": [ "gene/references" ], "id": "RGD:151672467" }, { "pages": [ "gene" ], "id": "HGNC:58960" }, { "id": "RGD:151672467" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATF1P1", "soTermId": "SO:0000336", "name": "activating transcription factor 1 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:3539572" ], "genomeLocations": [ { "strand": "-", "endPosition": 92888581, "chromosome": "6", "assembly": "GRCh38", "startPosition": 92887251 } ], "primaryId": "HGNC:37691", "crossReferences": [ { "id": "ENSEMBL:ENSG00000219387" }, { "id": "NCBI_Gene:100128159" }, { "pages": [ "gene/references" ], "id": "RGD:3539572" }, { "pages": [ "gene" ], "id": "HGNC:37691" }, { "id": "RGD:3539572" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATF2", "geneSynopsis": "This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions This protein binds to the cAMP-responsive element (CRE), an octameric palindrome. It forms a homodimer or a heterodimer with c-Jun and stimulates CRE-dependent transcription. This protein is also a histone acetyltransferase (HAT) that specifically acetylates histones H2B and H4 in vitro; thus it may represent a class of sequence-specific factors that activate transcription by direct effects on chromatin components. The encoded protein may also be involved in cell's DNA damage response independent of its role in transcriptional regulation. Several alternatively spliced transcript variants have been found for this gene [provided by RefSeq, Jan 2014]", "soTermId": "SO:0001217", "name": "activating transcription factor 2", "basicGeneticEntity": { "synonyms": [ "CRE-BP1", "CREB-2", "CREB2", "HB16", "MGC111558", "TREB7", "activating transcription factor 2 splice variant ATF2-var2", "cAMP response element-binding protein CRE-BP1", "cAMP responsive element binding protein 2, formerly", "cAMP-dependent transcription factor ATF-2", "cAMP-responsive element-binding protein 2", "cyclic AMP-dependent transcription factor ATF-2", "cyclic AMP-responsive element-binding protein 2", "histone acetyltransferase ATF2", "ratf2" ], "secondaryIds": [ "RGD:732287" ], "genomeLocations": [ { "strand": "-", "endPosition": 175168382, "chromosome": "2", "assembly": "GRCh38", "startPosition": 175072250 } ], "primaryId": "HGNC:784", "crossReferences": [ { "id": "ENSEMBL:ENSG00000115966" }, { "id": "NCBI_Gene:1386" }, { "id": "PANTHER:PTHR19304" }, { "id": "UniProtKB:P15336" }, { "pages": [ "gene/references" ], "id": "RGD:732287" }, { "pages": [ "gene" ], "id": "HGNC:784" }, { "id": "RGD:732287" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATF3", "geneSynopsis": "This gene encodes a member of the mammalian activation transcription factor/cAMP responsive element-binding (CREB) protein family of transcription factors. This gene is induced by a variety of signals, including many of those encountered by cancer cells, and is involved in the complex process of cellular stress response. Multiple transcript variants encoding different isoforms have been found for this gene. It is possible that alternative splicing of this gene may be physiologically important in the regulation of target genes. [provided by RefSeq, Apr 2011]", "soTermId": "SO:0001217", "name": "activating transcription factor 3", "basicGeneticEntity": { "synonyms": [ "ATF3deltaZip2", "ATF3deltaZip2c", "ATF3deltaZip3", "FLJ41705", "cAMP-dependent transcription factor ATF-3", "cyclic AMP-dependent transcription factor ATF-3" ], "secondaryIds": [ "RGD:735760" ], "genomeLocations": [ { "strand": "+", "endPosition": 212620777, "chromosome": "1", "assembly": "GRCh38", "startPosition": 212565334 } ], "primaryId": "HGNC:785", "crossReferences": [ { "id": "ENSEMBL:ENSG00000162772" }, { "id": "NCBI_Gene:467" }, { "id": "PANTHER:PTHR23351" }, { "id": "UniProtKB:P18847" }, { "pages": [ "gene/references" ], "id": "RGD:735760" }, { "pages": [ "gene" ], "id": "HGNC:785" }, { "id": "RGD:735760" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATF4", "geneSynopsis": "This gene encodes a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV-1. The encoded protein was also isolated and characterized as the cAMP-response element binding protein 2 (CREB-2). The protein encoded by this gene belongs to a family of DNA-binding proteins that includes the AP-1 family of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like proteins. These transcription factors share a leucine zipper region that is involved in protein-protein interactions, located C-terminal to a stretch of basic amino acids that functions as a DNA binding domain. Two alternative transcripts encoding the same protein have been described. Two pseudogenes are located on the X chromosome at q28 in a region containing a large inverted duplication. [provided by RefSeq, Sep 2011]", "soTermId": "SO:0001217", "name": "activating transcription factor 4", "basicGeneticEntity": { "synonyms": [ "CREB-2", "CREB2", "DNA-binding protein TAXREB67", "TAXREB67", "TXREB", "activating transcription factor atf-4", "cAMP response element-binding protein 2", "cAMP-dependent transcription factor ATF-4", "cAMP-responsive element-binding protein 2", "cyclic AMP-dependent transcription factor ATF-4", "cyclic AMP-responsive element-binding protein 2", "tax-responsive enhancer element B67", "tax-responsive enhancer element-binding protein 67" ], "secondaryIds": [ "RGD:733712" ], "genomeLocations": [ { "strand": "+", "endPosition": 39522690, "chromosome": "22", "assembly": "GRCh38", "startPosition": 39519695 } ], "primaryId": "HGNC:786", "crossReferences": [ { "id": "ENSEMBL:ENSG00000128272" }, { "id": "NCBI_Gene:468" }, { "id": "PANTHER:PTHR13044" }, { "id": "UniProtKB:P18848" }, { "pages": [ "gene/references" ], "id": "RGD:733712" }, { "pages": [ "gene" ], "id": "HGNC:786" }, { "id": "RGD:733712" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATF4P1", "soTermId": "SO:0000336", "name": "activating transcription factor 4 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ATF4P", "TAXREB67P", "TXREBP", "activating transcription factor 4 pseudogene (tax-responsive enhancer element b67 pseudogene)", "uncharacterized protein LOC643894" ], "secondaryIds": [ "RGD:1353507" ], "genomeLocations": [ { "strand": "-", "endPosition": 154623780, "chromosome": "X", "assembly": "GRCh38", "startPosition": 154622340 } ], "primaryId": "HGNC:789", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213338" }, { "id": "NCBI_Gene:469" }, { "pages": [ "gene/references" ], "id": "RGD:1353507" }, { "pages": [ "gene" ], "id": "HGNC:789" }, { "id": "RGD:1353507" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATF4P2", "soTermId": "SO:0000336", "name": "activating transcription factor 4 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:2291806" ], "genomeLocations": [ { "strand": "+", "endPosition": 154582086, "chromosome": "X", "assembly": "GRCh38", "startPosition": 154580646 } ], "primaryId": "HGNC:34025", "crossReferences": [ { "id": "ENSEMBL:ENSG00000273041" }, { "id": "NCBI_Gene:340600" }, { "pages": [ "gene/references" ], "id": "RGD:2291806" }, { "pages": [ "gene" ], "id": "HGNC:34025" }, { "id": "RGD:2291806" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATF4P3", "geneSynopsis": "INTERACTS WITH copper atom; copper(0); resveratrol", "soTermId": "SO:0000336", "name": "activating transcription factor 4 pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ATF4C" ], "secondaryIds": [ "RGD:1352172" ], "genomeLocations": [ { "strand": "-", "endPosition": 76227086, "chromosome": "17", "assembly": "GRCh38", "startPosition": 76225665 } ], "primaryId": "HGNC:788", "crossReferences": [ { "id": "ENSEMBL:ENSG00000228218" }, { "id": "NCBI_Gene:643159" }, { "pages": [ "gene/references" ], "id": "RGD:1352172" }, { "pages": [ "gene" ], "id": "HGNC:788" }, { "id": "RGD:1352172" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATF4P4", "geneSynopsis": "INTERACTS WITH aristolochic acid A; lead diacetate; N-methyl-4-phenylpyridinium", "soTermId": "SO:0000336", "name": "activating transcription factor 4 pseudogene 4", "basicGeneticEntity": { "synonyms": [ "ATF4B" ], "secondaryIds": [ "RGD:1344419" ], "genomeLocations": [ { "strand": "+", "endPosition": 113791453, "chromosome": "11", "assembly": "GRCh38", "startPosition": 113790038 } ], "primaryId": "HGNC:787", "crossReferences": [ { "id": "ENSEMBL:ENSG00000256167" }, { "id": "NCBI_Gene:100127952" }, { "pages": [ "gene/references" ], "id": "RGD:1344419" }, { "pages": [ "gene" ], "id": "HGNC:787" }, { "id": "RGD:1344419" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATF5", "geneSynopsis": "Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; and tubulin binding activity. Involved in several processes, including fat cell differentiation; regulation of DNA-templated transcription; and regulation of cell cycle process. Located in centrosome; cytosol; and nucleoplasm. Part of RNA polymerase II transcription regulator complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "activating transcription factor 5", "basicGeneticEntity": { "synonyms": [ "ATFX", "FLJ34666", "HMFN0395", "cAMP-dependent transcription factor ATF-5", "cyclic AMP-dependent transcription factor ATF-5", "transcription factor ATFx" ], "secondaryIds": [ "RGD:1350993" ], "genomeLocations": [ { "strand": "+", "endPosition": 49933935, "chromosome": "19", "assembly": "GRCh38", "startPosition": 49923910 } ], "primaryId": "HGNC:790", "crossReferences": [ { "id": "ENSEMBL:ENSG00000169136" }, { "id": "NCBI_Gene:22809" }, { "id": "PANTHER:PTHR13044" }, { "id": "UniProtKB:Q9Y2D1" }, { "pages": [ "gene/references" ], "id": "RGD:1350993" }, { "pages": [ "gene" ], "id": "HGNC:790" }, { "id": "RGD:1350993" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATF6", "geneSynopsis": "This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this protein is unusual in that it is synthesized as a transmembrane protein that is embedded in the ER. It functions as an ER stress sensor/transducer, and following ER stress-induced proteolysis, it functions as a nuclear transcription factor via a cis-acting ER stress response element (ERSE) that is present in the promoters of genes encoding ER chaperones. This protein has been identified as a survival factor for quiescent but not proliferative squamous carcinoma cells. There have been conflicting reports about the association of polymorphisms in this gene with diabetes in different populations, but another polymorphism has been associated with increased plasma cholesterol levels. This gene is also thought to be a potential therapeutic target for cystic fibrosis. [provided by RefSeq, Aug 2011]", "soTermId": "SO:0001217", "name": "activating transcription factor 6", "basicGeneticEntity": { "synonyms": [ "ACHM7", "ATF6-alpha", "ATF6A", "ATP6alpha", "DKFZp686P2194", "FLJ21663", "activating transcription factor 6 alpha", "cAMP-dependent transcription factor ATF-6 alpha", "cyclic AMP-dependent transcription factor ATF-6 alpha" ], "secondaryIds": [ "RGD:1313517" ], "genomeLocations": [ { "strand": "+", "endPosition": 161977574, "chromosome": "1", "assembly": "GRCh38", "startPosition": 161766261 } ], "primaryId": "HGNC:791", "crossReferences": [ { "id": "ENSEMBL:ENSG00000118217" }, { "id": "NCBI_Gene:22926" }, { "id": "PANTHER:PTHR46164" }, { "id": "UniProtKB:P18850" }, { "pages": [ "gene/references" ], "id": "RGD:1313517" }, { "pages": [ "gene" ], "id": "HGNC:791" }, { "id": "RGD:1313517" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATF6-DT", "geneSynopsis": "INTERACTS WITH okadaic acid", "soTermId": "SO:0001263", "name": "ATF6 divergent transcript", "basicGeneticEntity": { "synonyms": [ "LOC102724329", "uncharacterized LOC102724329" ], "secondaryIds": [ "RGD:38614437" ], "genomeLocations": [ { "strand": "-", "endPosition": 161766488, "chromosome": "1", "assembly": "GRCh38", "startPosition": 161748537 } ], "primaryId": "HGNC:55826", "crossReferences": [ { "id": "ENSEMBL:ENSG00000226889" }, { "id": "NCBI_Gene:102724329" }, { "pages": [ "gene/references" ], "id": "RGD:38614437" }, { "pages": [ "gene" ], "id": "HGNC:55826" }, { "id": "RGD:38614437" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATF6B", "geneSynopsis": "The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endoplasmic reticulum; however, under ER stress, the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]", "soTermId": "SO:0001217", "name": "activating transcription factor 6 beta", "basicGeneticEntity": { "synonyms": [ "ATF6-beta", "ATF6beta", "CREB-RP", "CREBL1", "Creb-related protein", "FLJ10066", "G13", "cAMP response element-binding protein-related protein", "cAMP responsive element binding protein-like 1", "cAMP-dependent transcription factor ATF-6 beta", "cAMP-responsive element-binding protein-like 1", "cyclic AMP-dependent transcription factor ATF-6 beta" ], "secondaryIds": [ "RGD:1346168" ], "genomeLocations": [ { "strand": "-", "endPosition": 32128253, "chromosome": "6", "assembly": "GRCh38", "startPosition": 32115264 } ], "primaryId": "HGNC:2349", "crossReferences": [ { "id": "ENSEMBL:ENSG00000228628" }, { "id": "ENSEMBL:ENSG00000213676" }, { "id": "ENSEMBL:ENSG00000168468" }, { "id": "ENSEMBL:ENSG00000234539" }, { "id": "NCBI_Gene:1388" }, { "id": "PANTHER:PTHR46164" }, { "id": "UniProtKB:Q99941" }, { "pages": [ "gene/references" ], "id": "RGD:1346168" }, { "pages": [ "gene" ], "id": "HGNC:2349" }, { "id": "RGD:1346168" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATF7", "geneSynopsis": "Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; mitogen-activated protein kinase binding activity; and transcription coactivator binding activity. Involved in negative regulation of transcription by RNA polymerase II and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of RNA polymerase II transcription regulator complex. Biomarker of colorectal cancer. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "activating transcription factor 7", "basicGeneticEntity": { "synonyms": [ "ATFA", "MGC57182", "cAMP-dependent transcription factor ATF-7", "cyclic AMP-dependent transcription factor ATF-7", "transcription factor ATF-A" ], "secondaryIds": [ "RGD:1312669" ], "genomeLocations": [ { "strand": "-", "endPosition": 53626410, "chromosome": "12", "assembly": "GRCh38", "startPosition": 53507856 } ], "primaryId": "HGNC:792", "crossReferences": [ { "id": "ENSEMBL:ENSG00000170653" }, { "id": "NCBI_Gene:11016" }, { "id": "PANTHER:PTHR19304" }, { "id": "UniProtKB:P17544" }, { "pages": [ "gene/references" ], "id": "RGD:1312669" }, { "pages": [ "gene" ], "id": "HGNC:792" }, { "id": "RGD:1312669" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATF7-AS1", "soTermId": "SO:0001263", "name": "ATF7 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AC023509.2", "LOC100652999", "novel transcript, antisense to ATF7", "uncharacterized LOC100652999" ], "secondaryIds": [ "RGD:16561357" ], "genomeLocations": [ { "strand": "+", "endPosition": 53517608, "chromosome": "12", "assembly": "GRCh38", "startPosition": 53513891 } ], "primaryId": "HGNC:58279", "crossReferences": [ { "id": "ENSEMBL:ENSG00000257550" }, { "id": "NCBI_Gene:100652999" }, { "pages": [ "gene/references" ], "id": "RGD:16561357" }, { "pages": [ "gene" ], "id": "HGNC:58279" }, { "id": "RGD:16561357" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATF7-NPFF", "geneSynopsis": "Predicted to enable DNA binding activity; DNA-binding transcription factor activity; and zinc ion binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ATF7-NPFF readthrough", "basicGeneticEntity": { "synonyms": [ "ATF7-NPFF readthrough protein" ], "secondaryIds": [ "RGD:30307761" ], "genomeLocations": [ { "strand": "-", "endPosition": 53626382, "chromosome": "12", "assembly": "GRCh38", "startPosition": 53506688 } ], "primaryId": "HGNC:55073", "crossReferences": [ { "id": "ENSEMBL:ENSG00000267281" }, { "id": "NCBI_Gene:114108587" }, { "id": "PANTHER:PTHR19304" }, { "id": "UniProtKB:B2R8U0" }, { "id": "UniProtKB:K7ELQ4" }, { "pages": [ "gene/references" ], "id": "RGD:30307761" }, { "pages": [ "gene" ], "id": "HGNC:55073" }, { "id": "RGD:30307761" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATF7IP", "geneSynopsis": "ATF7IP is a multifunctional nuclear protein that associates with heterochromatin. It can act as a transcriptional coactivator or corepressor depending upon its binding partners (summary by Liu et al., 2009 [PubMed 19106100]).[supplied by OMIM, Nov 2010]", "soTermId": "SO:0001217", "name": "activating transcription factor 7 interacting protein", "basicGeneticEntity": { "synonyms": [ "AM", "ATF-IP", "ATF-interacting protein", "ATF7-interacting protein", "ATF7IP1", "ATFa-associated modulator", "FLJ10139", "FLJ10688", "MBD1-containing chromatin associated factor", "MBD1-containing chromatin-associated factor 1", "MCAF", "MCAF1", "activating transcription factor 7-interacting protein 1", "hAM", "p621" ], "secondaryIds": [ "RGD:1314412" ], "genomeLocations": [ { "strand": "+", "endPosition": 14502931, "chromosome": "12", "assembly": "GRCh38", "startPosition": 14365627 } ], "primaryId": "HGNC:20092", "crossReferences": [ { "id": "ENSEMBL:ENSG00000171681" }, { "id": "NCBI_Gene:55729" }, { "id": "PANTHER:PTHR23210" }, { "id": "UniProtKB:Q6VMQ6" }, { "pages": [ "gene/references" ], "id": "RGD:1314412" }, { "pages": [ "gene" ], "id": "HGNC:20092" }, { "id": "RGD:1314412" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATF7IP2", "geneSynopsis": "Predicted to enable transcription coregulator activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "activating transcription factor 7 interacting protein 2", "basicGeneticEntity": { "synonyms": [ "ATF7-interacting protein 2", "FLJ12668", "MBD1-containing chromatin associated factor 2", "MBD1-containing chromatin-associated factor 2", "MCAF2", "activating transcription factor 7-interacting protein 2" ], "secondaryIds": [ "RGD:1314578" ], "genomeLocations": [ { "strand": "+", "endPosition": 10483640, "chromosome": "16", "assembly": "GRCh38", "startPosition": 10326434 } ], "primaryId": "HGNC:20397", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166669" }, { "id": "NCBI_Gene:80063" }, { "id": "PANTHER:PTHR23210" }, { "id": "UniProtKB:Q5U623" }, { "pages": [ "gene/references" ], "id": "RGD:1314578" }, { "pages": [ "gene" ], "id": "HGNC:20397" }, { "id": "RGD:1314578" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG10", "geneSynopsis": "Autophagy is a process for the bulk degradation of cytosolic compartments by lysosomes. ATG10 is an E2-like enzyme involved in 2 ubiquitin-like modifications essential for autophagosome formation: ATG12 (MIM 609608)-ATG5 (MIM 604261) conjugation and modification of a soluble form of MAP-LC3 (MAP1LC3A; MIM 601242), a homolog of yeast Apg8, to a membrane-bound form (Nemoto et al., 2003 [PubMed 12890687]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "autophagy related 10", "basicGeneticEntity": { "synonyms": [ "APG10", "APG10 autophagy 10-like", "APG10-like", "APG10L", "ATG10 autophagy related 10 homolog", "DKFZp586I0418", "FLJ13954", "apg10 autophagy 10-like (s. cerevisiae)", "autophagy-related protein 10", "pp12616", "ubiquitin-like-conjugating enzyme ATG10" ], "secondaryIds": [ "RGD:1351458" ], "genomeLocations": [ { "strand": "+", "endPosition": 82276857, "chromosome": "5", "assembly": "GRCh38", "startPosition": 81971615 } ], "primaryId": "HGNC:20315", "crossReferences": [ { "id": "ENSEMBL:ENSG00000152348" }, { "id": "NCBI_Gene:83734" }, { "id": "PANTHER:PTHR14957" }, { "id": "UniProtKB:Q9H0Y0" }, { "pages": [ "gene/references" ], "id": "RGD:1351458" }, { "pages": [ "gene" ], "id": "HGNC:20315" }, { "id": "RGD:1351458" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG10-AS1", "geneSynopsis": "INTERACTS WITH sodium arsenite", "soTermId": "SO:0001263", "name": "ATG10 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481370" ], "genomeLocations": [ { "strand": "-", "endPosition": 82073702, "chromosome": "5", "assembly": "GRCh38", "startPosition": 82073055 } ], "primaryId": "HGNC:40914", "crossReferences": [ { "id": "ENSEMBL:ENSG00000248192" }, { "id": "NCBI_Gene:100874022" }, { "pages": [ "gene/references" ], "id": "RGD:6481370" }, { "pages": [ "gene" ], "id": "HGNC:40914" }, { "id": "RGD:6481370" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG10-IT1", "soTermId": "SO:0001263", "name": "ATG10 intronic transcript 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481023" ], "genomeLocations": [ { "strand": "+", "endPosition": 81992481, "chromosome": "5", "assembly": "GRCh38", "startPosition": 81991995 } ], "primaryId": "HGNC:41455", "crossReferences": [ { "id": "ENSEMBL:ENSG00000236447" }, { "id": "NCBI_Gene:100874311" }, { "pages": [ "gene/references" ], "id": "RGD:6481023" }, { "pages": [ "gene" ], "id": "HGNC:41455" }, { "id": "RGD:6481023" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG101", "geneSynopsis": "Enables identical protein binding activity. Involved in autophagosome assembly and negative regulation of cell population proliferation. Located in phagophore assembly site. Part of Atg1/ULK1 kinase complex. Biomarker of cholangiocarcinoma; colon cancer; and hepatocellular carcinoma. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "autophagy related 101", "basicGeneticEntity": { "synonyms": [ "Atg13-interacting protein", "C12orf44", "FLJ11773", "autophagy-related protein 101" ], "secondaryIds": [ "RGD:1602213" ], "genomeLocations": [ { "strand": "+", "endPosition": 52077495, "chromosome": "12", "assembly": "GRCh38", "startPosition": 52065300 } ], "primaryId": "HGNC:25679", "crossReferences": [ { "id": "ENSEMBL:ENSG00000123395" }, { "id": "NCBI_Gene:60673" }, { "id": "PANTHER:PTHR13292" }, { "id": "UniProtKB:Q9BSB4" }, { "pages": [ "gene/references" ], "id": "RGD:1602213" }, { "pages": [ "gene" ], "id": "HGNC:25679" }, { "id": "RGD:1602213" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG12", "geneSynopsis": "Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for degradation. ATG12 is the human homolog of a yeast protein involved in autophagy (Mizushima et al., 1998 [PubMed 9852036]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "autophagy related 12", "basicGeneticEntity": { "synonyms": [ "APG12", "APG12 autophagy 12-like", "APG12-like", "APG12L", "ATG12 autophagy related 12 homolog", "Apg12 (autophagy, yeast) homolog", "FBR93", "HAPG12", "apg12 autophagy 12-like (s. cerevisiae)", "autophagy-related protein 12", "ubiquitin-like protein ATG12" ], "secondaryIds": [ "RGD:1314851" ], "genomeLocations": [ { "strand": "-", "endPosition": 115841837, "chromosome": "5", "assembly": "GRCh38", "startPosition": 115828200 } ], "primaryId": "HGNC:588", "crossReferences": [ { "id": "ENSEMBL:ENSG00000145782" }, { "id": "NCBI_Gene:9140" }, { "id": "PANTHER:PTHR13385" }, { "id": "UniProtKB:O94817" }, { "pages": [ "gene/references" ], "id": "RGD:1314851" }, { "pages": [ "gene" ], "id": "HGNC:588" }, { "id": "RGD:1314851" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG12-AS1", "soTermId": "SO:0001263", "name": "ATG12 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LOC124901049", "uncharacterized LOC124901049" ], "secondaryIds": [ "RGD:151668078" ], "genomeLocations": [ { "strand": "+", "endPosition": 115832882, "chromosome": "5", "assembly": "GRCh38", "startPosition": 115817088 } ], "primaryId": "HGNC:59117", "crossReferences": [ { "id": "NCBI_Gene:124901049" }, { "pages": [ "gene/references" ], "id": "RGD:151668078" }, { "pages": [ "gene" ], "id": "HGNC:59117" }, { "id": "RGD:151668078" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG12P1", "soTermId": "SO:0000336", "name": "autophagy related 12 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ATG12P" ], "secondaryIds": [ "RGD:2293247" ], "genomeLocations": [ { "strand": "-", "endPosition": 73068301, "chromosome": "17", "assembly": "GRCh38", "startPosition": 73067545 } ], "primaryId": "HGNC:21466", "crossReferences": [ { "id": "NCBI_Gene:100151642" }, { "pages": [ "gene/references" ], "id": "RGD:2293247" }, { "pages": [ "gene" ], "id": "HGNC:21466" }, { "id": "RGD:2293247" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG12P2", "soTermId": "SO:0000336", "name": "autophagy related 12 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:4888931" ], "genomeLocations": [ { "strand": "-", "endPosition": 222905059, "chromosome": "2", "assembly": "GRCh38", "startPosition": 222901664 } ], "primaryId": "HGNC:38605", "crossReferences": [ { "id": "ENSEMBL:ENSG00000224121" }, { "id": "NCBI_Gene:100293948" }, { "pages": [ "gene/references" ], "id": "RGD:4888931" }, { "pages": [ "gene" ], "id": "HGNC:38605" }, { "id": "RGD:4888931" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG13", "geneSynopsis": "The protein encoded by this gene is an autophagy factor and a target of the TOR kinase signaling pathway. The encoded protein is essential for autophagosome formation and mitophagy. [provided by RefSeq, Oct 2016]", "soTermId": "SO:0001217", "name": "autophagy related 13", "basicGeneticEntity": { "synonyms": [ "ATG13 autophagy related 13 homolog", "FLJ20698", "KIAA0652", "PARATARG8", "autophagy-related protein 13" ], "secondaryIds": [ "RGD:1602498" ], "genomeLocations": [ { "strand": "+", "endPosition": 46674818, "chromosome": "11", "assembly": "GRCh38", "startPosition": 46617251 } ], "primaryId": "HGNC:29091", "crossReferences": [ { "id": "ENSEMBL:ENSG00000175224" }, { "id": "NCBI_Gene:9776" }, { "id": "PANTHER:PTHR13430" }, { "id": "UniProtKB:O75143" }, { "pages": [ "gene/references" ], "id": "RGD:1602498" }, { "pages": [ "gene" ], "id": "HGNC:29091" }, { "id": "RGD:1602498" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG14", "geneSynopsis": "Enables GTPase binding activity; phosphatidylinositol 3-kinase inhibitor activity; and protein-membrane adaptor activity. Involved in several processes, including early endosome to late endosome transport; macroautophagy; and phosphatidylinositol 3-kinase/protein kinase B signal transduction. Acts upstream of or within endosome to lysosome transport. Located in autophagosome and phagophore assembly site membrane. Is extrinsic component of omegasome membrane and extrinsic component of phagophore assembly site membrane. Part of phosphatidylinositol 3-kinase complex, class III. Is active in phagophore assembly site. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "autophagy related 14", "basicGeneticEntity": { "synonyms": [ "ATG14 autophagy related 14 homolog", "ATG14L", "Barkor", "Beclin 1-Interacting protein", "KIAA0831", "MGC126291", "MGC126292", "autophagy-related protein 14-like protein", "beclin 1-associated autophagy-related key regulator" ], "secondaryIds": [ "RGD:1312148" ], "genomeLocations": [ { "strand": "-", "endPosition": 55411830, "chromosome": "14", "assembly": "GRCh38", "startPosition": 55366391 } ], "primaryId": "HGNC:19962", "crossReferences": [ { "id": "ENSEMBL:ENSG00000126775" }, { "id": "NCBI_Gene:22863" }, { "id": "PANTHER:PTHR13664" }, { "id": "UniProtKB:Q6ZNE5" }, { "pages": [ "gene/references" ], "id": "RGD:1312148" }, { "pages": [ "gene" ], "id": "HGNC:19962" }, { "id": "RGD:1312148" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG16L1", "geneSynopsis": "The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]", "soTermId": "SO:0001217", "name": "autophagy related 16 like 1", "basicGeneticEntity": { "synonyms": [ "APG16L", "APG16L beta", "ATG16 autophagy related 16-like 1", "ATG16A", "ATG16L", "FLJ00045", "FLJ10035", "FLJ10828", "FLJ22677", "IBD10", "WD repeat domain 30", "WDR30", "apg16 autophagy 16-like (s. cerevisiae)", "autophagy related 16-like 1", "autophagy-related protein 16-1" ], "secondaryIds": [ "RGD:1321647" ], "genomeLocations": [ { "strand": "+", "endPosition": 233295674, "chromosome": "2", "assembly": "GRCh38", "startPosition": 233210051 } ], "primaryId": "HGNC:21498", "crossReferences": [ { "id": "ENSEMBL:ENSG00000085978" }, { "id": "ENSEMBL:ENSG00000281089" }, { "id": "NCBI_Gene:55054" }, { "id": "PANTHER:PTHR19878" }, { "id": "UniProtKB:Q676U5" }, { "pages": [ "gene/references" ], "id": "RGD:1321647" }, { "pages": [ "gene" ], "id": "HGNC:21498" }, { "id": "RGD:1321647" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG16L2", "geneSynopsis": "Predicted to be involved in autophagosome assembly. Predicted to act upstream of or within negative stranded viral RNA replication. Located in nucleoplasm. Part of Atg12-Atg5-Atg16 complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "autophagy related 16 like 2", "basicGeneticEntity": { "synonyms": [ "APG16-like 2", "ATG16 autophagy related 16-like 2", "ATG16B", "FLJ00012", "WD repeat-containing protein 80", "WDR80", "autophagy related 16-like 2", "autophagy-related protein 16-2" ], "secondaryIds": [ "RGD:1606757" ], "genomeLocations": [ { "strand": "+", "endPosition": 72843740, "chromosome": "11", "assembly": "GRCh38", "startPosition": 72814138 } ], "primaryId": "HGNC:25464", "crossReferences": [ { "id": "ENSEMBL:ENSG00000168010" }, { "id": "NCBI_Gene:89849" }, { "id": "PANTHER:PTHR19878" }, { "id": "UniProtKB:Q8NAA4" }, { "pages": [ "gene/references" ], "id": "RGD:1606757" }, { "pages": [ "gene" ], "id": "HGNC:25464" }, { "id": "RGD:1606757" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG2A", "geneSynopsis": "Enables lipid transfer activity. Involved in autophagosome assembly and positive regulation of autophagosome assembly. Is active in organelle membrane contact site. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "autophagy related 2A", "basicGeneticEntity": { "synonyms": [ "ATG2 autophagy related 2 homolog A", "BLTP4A", "KIAA0404", "MGC117153", "autophagy-related protein 2 homolog A", "bridge-like lipid transfer protein family member 4A" ], "secondaryIds": [ "RGD:1604391" ], "genomeLocations": [ { "strand": "-", "endPosition": 64917245, "chromosome": "11", "assembly": "GRCh38", "startPosition": 64894531 } ], "primaryId": "HGNC:29028", "crossReferences": [ { "id": "ENSEMBL:ENSG00000110046" }, { "id": "NCBI_Gene:23130" }, { "id": "PANTHER:PTHR13190" }, { "id": "UniProtKB:Q2TAZ0" }, { "pages": [ "gene/references" ], "id": "RGD:1604391" }, { "pages": [ "gene" ], "id": "HGNC:29028" }, { "id": "RGD:1604391" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG2B", "geneSynopsis": "This gene encodes a protein required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposition to myeloid malignancies. [provided by RefSeq, Jul 2016]", "soTermId": "SO:0001217", "name": "autophagy related 2B", "basicGeneticEntity": { "synonyms": [ "ATG2 autophagy related 2 homolog B", "BLTP4B", "C14orf103", "FLJ10242", "autophagy-related protein 2 homolog B", "bridge-like lipid transfer protein family member 4B" ], "secondaryIds": [ "RGD:1312572" ], "genomeLocations": [ { "strand": "-", "endPosition": 96363341, "chromosome": "14", "assembly": "GRCh38", "startPosition": 96279195 } ], "primaryId": "HGNC:20187", "crossReferences": [ { "id": "ENSEMBL:ENSG00000066739" }, { "id": "NCBI_Gene:55102" }, { "id": "PANTHER:PTHR13190" }, { "id": "UniProtKB:Q96BY7" }, { "pages": [ "gene/references" ], "id": "RGD:1312572" }, { "pages": [ "gene" ], "id": "HGNC:20187" }, { "id": "RGD:1312572" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG3", "geneSynopsis": "This gene encodes a ubiquitin-like-conjugating enzyme and is a component of ubiquitination-like systems involved in autophagy, the process of degradation, turnover and recycling of cytoplasmic constituents in eukaryotic cells. This protein is known to play a role in regulation of autophagy during cell death. A pseudogene of this gene is located on chromosome 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]", "soTermId": "SO:0001217", "name": "autophagy related 3", "basicGeneticEntity": { "synonyms": [ "2610016C12Rik", "APG3", "APG3 autophagy 3-like", "APG3-LIKE", "APG3L", "ATG3 autophagy related 3 homolog", "DKFZp564M1178", "FLJ22125", "MGC15201", "PC3-96", "apg3 autophagy 3-like (s. cerevisiae)", "autophagy Apg3p/Aut1p-like", "autophagy-related protein 3", "hApg3", "ubiquitin-like-conjugating enzyme ATG3" ], "secondaryIds": [ "RGD:1353416" ], "genomeLocations": [ { "strand": "-", "endPosition": 112562046, "chromosome": "3", "assembly": "GRCh38", "startPosition": 112532510 } ], "primaryId": "HGNC:20962", "crossReferences": [ { "id": "ENSEMBL:ENSG00000144848" }, { "id": "NCBI_Gene:64422" }, { "id": "PANTHER:PTHR12866" }, { "id": "UniProtKB:Q9NT62" }, { "pages": [ "gene/references" ], "id": "RGD:1353416" }, { "pages": [ "gene" ], "id": "HGNC:20962" }, { "id": "RGD:1353416" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG3P1", "soTermId": "SO:0000336", "name": "autophagy related 3 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AGP3", "ATG3P", "dJ54G6.1" ], "secondaryIds": [ "RGD:2289735" ], "genomeLocations": [ { "strand": "-", "endPosition": 39330000, "chromosome": "20", "assembly": "GRCh38", "startPosition": 39328855 } ], "primaryId": "HGNC:31123", "crossReferences": [ { "id": "ENSEMBL:ENSG00000224357" }, { "id": "NCBI_Gene:100135756" }, { "pages": [ "gene/references" ], "id": "RGD:2289735" }, { "pages": [ "gene" ], "id": "HGNC:31123" }, { "id": "RGD:2289735" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG4A", "geneSynopsis": "Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. [provided by RefSeq, Mar 2016]", "soTermId": "SO:0001217", "name": "autophagy related 4A cysteine peptidase", "basicGeneticEntity": { "synonyms": [ "APG4 autophagy 4 homolog A", "APG4A", "ATG4 autophagy related 4 homolog A", "AUT-like 2 cysteine endopeptidase", "AUT-like 2, cysteine endopeptidase", "AUTL2", "HsAPG4A", "autophagin 2", "autophagin-2", "autophagy related 4A, cysteine peptidase", "autophagy-related cysteine endopeptidase 2", "autophagy-related protein 4 homolog A", "cysteine protease ATG4A", "hAPG4A" ], "secondaryIds": [ "RGD:1604759" ], "genomeLocations": [ { "strand": "+", "endPosition": 108154671, "chromosome": "X", "assembly": "GRCh38", "startPosition": 108088829 } ], "primaryId": "HGNC:16489", "crossReferences": [ { "id": "ENSEMBL:ENSG00000101844" }, { "id": "NCBI_Gene:115201" }, { "id": "PANTHER:PTHR22624" }, { "id": "UniProtKB:Q8WYN0" }, { "pages": [ "gene/references" ], "id": "RGD:1604759" }, { "pages": [ "gene" ], "id": "HGNC:16489" }, { "id": "RGD:1604759" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG4AP1", "soTermId": "SO:0000336", "name": "autophagy related 4A cysteine peptidase pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:10400430" ], "genomeLocations": [ { "strand": "+", "endPosition": 82999436, "chromosome": "X", "assembly": "GRCh38", "startPosition": 82998659 } ], "primaryId": "HGNC:44081", "crossReferences": [ { "id": "ENSEMBL:ENSG00000232735" }, { "id": "NCBI_Gene:106480786" }, { "pages": [ "gene/references" ], "id": "RGD:10400430" }, { "pages": [ "gene" ], "id": "HGNC:44081" }, { "id": "RGD:10400430" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG4B", "geneSynopsis": "Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "autophagy related 4B cysteine peptidase", "basicGeneticEntity": { "synonyms": [ "APG4 autophagy 4 homolog B", "APG4B", "ATG4 autophagy related 4 homolog B", "AUT-like 1 cysteine endopeptidase", "AUTL1", "HsAPG4B", "MGC1353", "apg4 autophagy 4 homolog b (s. cerevisiae)", "autophagin-1", "autophagy related 4B, cysteine peptidase", "autophagy-related cysteine endopeptidase 1", "autophagy-related protein 4 homolog B", "cysteine protease ATG4B", "hAPG4B" ], "secondaryIds": [ "RGD:1320126" ], "genomeLocations": [ { "strand": "+", "endPosition": 241673857, "chromosome": "2", "assembly": "GRCh38", "startPosition": 241637213 } ], "primaryId": "HGNC:20790", "crossReferences": [ { "id": "ENSEMBL:ENSG00000168397" }, { "id": "NCBI_Gene:23192" }, { "id": "PANTHER:PTHR22624" }, { "id": "UniProtKB:Q9Y4P1" }, { "pages": [ "gene/references" ], "id": "RGD:1320126" }, { "pages": [ "gene" ], "id": "HGNC:20790" }, { "id": "RGD:1320126" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG4C", "geneSynopsis": "Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding the same protein, have been characterized. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "autophagy related 4C cysteine peptidase", "basicGeneticEntity": { "synonyms": [ "APG4 autophagy 4 homolog C", "APG4-C", "APG4C", "ATG4 autophagy related 4 homolog C", "AUT-like 1, cysteine endopeptidase", "AUT-like 3 cysteine endopeptidase", "AUTL1", "AUTL3", "FLJ14867", "HsAPG4C", "apg4 autophagy 4 homolog c (s. cerevisiae)", "autophagin-3", "autophagy related 4C, cysteine peptidase", "autophagy-related cysteine endopeptidase 3", "autophagy-related protein 4 homolog C", "cysteine protease ATG4C" ], "secondaryIds": [ "RGD:1317140" ], "genomeLocations": [ { "strand": "+", "endPosition": 62865999, "chromosome": "1", "assembly": "GRCh38", "startPosition": 62783821 } ], "primaryId": "HGNC:16040", "crossReferences": [ { "id": "ENSEMBL:ENSG00000125703" }, { "id": "NCBI_Gene:84938" }, { "id": "PANTHER:PTHR22624" }, { "id": "UniProtKB:Q96DT6" }, { "pages": [ "gene/references" ], "id": "RGD:1317140" }, { "pages": [ "gene" ], "id": "HGNC:16040" }, { "id": "RGD:1317140" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG4C-AS1", "soTermId": "SO:0001263", "name": "ATG4C antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "uc.26", "uc.27" ], "secondaryIds": [ "RGD:629122723" ], "primaryId": "HGNC:58931", "crossReferences": [ { "id": "NCBI_Gene:144432486" }, { "pages": [ "gene/references" ], "id": "RGD:629122723" }, { "pages": [ "gene" ], "id": "HGNC:58931" }, { "id": "RGD:629122723" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG4D", "geneSynopsis": "Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene belongs to the autophagy-related protein 4 (Atg4) family of C54 endopeptidases. Members of this family encode proteins that play a role in the biogenesis of autophagosomes, which sequester the cytosol and organelles for degradation by lysosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]", "soTermId": "SO:0001217", "name": "autophagy related 4D cysteine peptidase", "basicGeneticEntity": { "synonyms": [ "APG4 autophagy 4 homolog D", "APG4-D", "APG4D", "ATG4 autophagy related 4 homolog D", "AUT-like 4 cysteine endopeptidase", "AUT-like 4, cysteine endopeptidase", "AUTL4", "HsAPG4D", "SPGF101", "apg4 autophagy 4 homolog d (s. cerevisiae)", "autophagin-4", "autophagy related 4D, cysteine peptidase", "autophagy-related cysteine endopeptidase 4", "autophagy-related protein 4 homolog D", "cysteine protease ATG4D", "cysteine protease involved in autophagy" ], "secondaryIds": [ "RGD:1348604" ], "genomeLocations": [ { "strand": "+", "endPosition": 10553423, "chromosome": "19", "assembly": "GRCh38", "startPosition": 10543533 } ], "primaryId": "HGNC:20789", "crossReferences": [ { "id": "ENSEMBL:ENSG00000130734" }, { "id": "NCBI_Gene:84971" }, { "id": "PANTHER:PTHR22624" }, { "id": "UniProtKB:Q86TL0" }, { "pages": [ "gene/references" ], "id": "RGD:1348604" }, { "pages": [ "gene" ], "id": "HGNC:20789" }, { "id": "RGD:1348604" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG5", "geneSynopsis": "The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Several transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2015]", "soTermId": "SO:0001217", "name": "autophagy related 5", "basicGeneticEntity": { "synonyms": [ "APG5", "APG5 (autophagy 5, S. cerevisiae)-like", "APG5 autophagy 5-like", "APG5-LIKE", "APG5L", "ASP", "ATG5 autophagy related 5 homolog", "ATG5 autophagy related 5-like", "SCAR25", "apg5 autophagy 5-like (s. cerevisiae)", "apoptosis specific protein", "apoptosis-specific protein", "autophagy protein 5", "hAPG5" ], "secondaryIds": [ "RGD:1353398" ], "genomeLocations": [ { "strand": "-", "endPosition": 106326477, "chromosome": "6", "assembly": "GRCh38", "startPosition": 106045423 } ], "primaryId": "HGNC:589", "crossReferences": [ { "id": "ENSEMBL:ENSG00000057663" }, { "id": "NCBI_Gene:9474" }, { "id": "PANTHER:PTHR13040" }, { "id": "UniProtKB:Q9H1Y0" }, { "pages": [ "gene/references" ], "id": "RGD:1353398" }, { "pages": [ "gene" ], "id": "HGNC:589" }, { "id": "RGD:1353398" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG7", "geneSynopsis": "This gene encodes an E1-like activating enzyme that is essential for autophagy and cytoplasmic to vacuole transport. The encoded protein is also thought to modulate p53-dependent cell cycle pathways during prolonged metabolic stress. It has been associated with multiple functions, including axon membrane trafficking, axonal homeostasis, mitophagy, adipose differentiation, and hematopoietic stem cell maintenance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]", "soTermId": "SO:0001217", "name": "autophagy related 7", "basicGeneticEntity": { "synonyms": [ "APG7 autophagy 7-like", "APG7-LIKE", "APG7L", "ATG12-activating enzyme E1 ATG7", "ATG7 autophagy related 7 homolog", "DKFZp434N0735", "GSA7", "LOC105376952", "SCAR31", "apg7 autophagy 7-like (s. cerevisiae)", "autophagy-related protein 7", "hAGP7", "ubiquitin activating enzyme E1-like protein", "ubiquitin-activating enzyme E1-like protein", "ubiquitin-like modifier-activating enzyme ATG7", "uncharacterized LOC105376952" ], "secondaryIds": [ "RGD:1312481" ], "genomeLocations": [ { "strand": "+", "endPosition": 11576353, "chromosome": "3", "assembly": "GRCh38", "startPosition": 11272309 } ], "primaryId": "HGNC:16935", "crossReferences": [ { "id": "ENSEMBL:ENSG00000197548" }, { "id": "NCBI_Gene:10533" }, { "id": "PANTHER:PTHR10953" }, { "id": "UniProtKB:O95352" }, { "pages": [ "gene/references" ], "id": "RGD:1312481" }, { "pages": [ "gene" ], "id": "HGNC:16935" }, { "id": "RGD:1312481" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG9A", "geneSynopsis": "Enables phospholipid scramblase activity. Involved in autophagosome assembly. Located in several cellular components, including Golgi apparatus; endosome; and phagophore assembly site. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "autophagy related 9A", "basicGeneticEntity": { "synonyms": [ "APG9 autophagy 9-like 1", "APG9-like 1", "APG9L1", "ATG9 autophagy related 9 homolog A", "MGD3208", "apg9 autophagy 9-like 1 (s. cerevisiae)", "autophagy 9-like 1 protein", "autophagy-related protein 9A", "mATG9" ], "secondaryIds": [ "RGD:1353328" ], "genomeLocations": [ { "strand": "-", "endPosition": 219229717, "chromosome": "2", "assembly": "GRCh38", "startPosition": 219219380 } ], "primaryId": "HGNC:22408", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198925" }, { "id": "NCBI_Gene:79065" }, { "id": "PANTHER:PTHR13038" }, { "id": "UniProtKB:Q7Z3C6" }, { "pages": [ "gene/references" ], "id": "RGD:1353328" }, { "pages": [ "gene" ], "id": "HGNC:22408" }, { "id": "RGD:1353328" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATG9B", "geneSynopsis": "This gene functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as an antisense transcript in the posttranscriptional regulation of the endothelial nitric oxide synthase 3 gene, which has 3' overlap with this gene on the opposite strand. Mutations in this gene and disruption of the autophagy process have been associated with multiple cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]", "soTermId": "SO:0001217", "name": "autophagy related 9B", "basicGeneticEntity": { "synonyms": [ "APG9-like 2", "APG9L2", "ATG9 autophagy related 9 homolog B", "NOS3AS", "SONE", "autophagy 9-like 2 protein", "autophagy-related protein 9B", "endothelial nitric oxide synthase antisense", "nitric oxide synthase 3 antisense", "nitric oxide synthase 3-overlapping antisense gene protein" ], "secondaryIds": [ "RGD:1352218" ], "genomeLocations": [ { "strand": "-", "endPosition": 151024499, "chromosome": "7", "assembly": "GRCh38", "startPosition": 151012209 } ], "primaryId": "HGNC:21899", "crossReferences": [ { "id": "ENSEMBL:ENSG00000181652" }, { "id": "NCBI_Gene:285973" }, { "id": "PANTHER:PTHR13038" }, { "id": "UniProtKB:Q674R7" }, { "pages": [ "gene/references" ], "id": "RGD:1352218" }, { "pages": [ "gene" ], "id": "HGNC:21899" }, { "id": "RGD:1352218" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATIC", "geneSynopsis": "This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009]", "soTermId": "SO:0001217", "name": "5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase", "basicGeneticEntity": { "synonyms": [ "5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp", "5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicase", "AICAR", "AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme", "AICAR transformylase/inosine monophosphate cyclohydrolase", "AICARFT", "AICARFT/IMPCHASE", "FLJ93545", "HEL-S-70p", "IMPCHASE", "PURH", "bifunctional purine biosynthesis protein ATIC", "bifunctional purine biosynthesis protein PURH", "epididymis secretory sperm binding protein Li 70p", "phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase" ], "secondaryIds": [ "RGD:731594" ], "genomeLocations": [ { "strand": "+", "endPosition": 215368592, "chromosome": "2", "assembly": "GRCh38", "startPosition": 215311956 } ], "primaryId": "HGNC:794", "crossReferences": [ { "id": "ENSEMBL:ENSG00000138363" }, { "id": "NCBI_Gene:471" }, { "id": "PANTHER:PTHR11692" }, { "id": "UniProtKB:P31939" }, { "pages": [ "gene/references" ], "id": "RGD:731594" }, { "pages": [ "gene" ], "id": "HGNC:794" }, { "id": "RGD:731594" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATL1", "geneSynopsis": "The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "atlastin GTPase 1", "basicGeneticEntity": { "synonyms": [ "AD-FSP", "ATL-1", "FSP1", "GBP-3", "GBP3", "GTP-binding protein 3", "HSN1D", "SPG3", "SPG3A", "atlastin-1", "atlastin1", "brain-specific GTP-binding protein", "guanine nucleotide-binding protein 3", "guanylate-binding protein 3", "hGBP3", "spastic paraplegia 3 protein A" ], "secondaryIds": [ "RGD:1352093" ], "genomeLocations": [ { "strand": "+", "endPosition": 50634017, "chromosome": "14", "assembly": "GRCh38", "startPosition": 50532509 } ], "primaryId": "HGNC:11231", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198513" }, { "id": "NCBI_Gene:51062" }, { "id": "PANTHER:PTHR10751" }, { "id": "UniProtKB:Q8WXF7" }, { "pages": [ "gene/references" ], "id": "RGD:1352093" }, { "pages": [ "gene" ], "id": "HGNC:11231" }, { "id": "RGD:1352093" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATL2", "geneSynopsis": "Enables identical protein binding activity. Involved in Golgi organization; endoplasmic reticulum tubular network membrane organization; and protein homooligomerization. Located in endoplasmic reticulum tubular network membrane. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "atlastin GTPase 2", "basicGeneticEntity": { "synonyms": [ "ADP-ribosylation factor-like 6 interacting protein 2", "ADP-ribosylation factor-like protein 6-interacting protein 2", "ADP-ribosylation-like factor 6 interacting protein 2", "ARL-6-interacting protein 2", "ARL3IP2", "ARL6IP2", "ATL-2", "FLJ23293", "aip-2", "atlastin-2", "atlastin2" ], "secondaryIds": [ "RGD:1312973" ], "genomeLocations": [ { "strand": "-", "endPosition": 38378584, "chromosome": "2", "assembly": "GRCh38", "startPosition": 38293949 } ], "primaryId": "HGNC:24047", "crossReferences": [ { "id": "ENSEMBL:ENSG00000119787" }, { "id": "NCBI_Gene:64225" }, { "id": "PANTHER:PTHR10751" }, { "id": "UniProtKB:Q8NHH9" }, { "pages": [ "gene/references" ], "id": "RGD:1312973" }, { "pages": [ "gene" ], "id": "HGNC:24047" }, { "id": "RGD:1312973" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATL3", "geneSynopsis": "This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated with hereditary sensory neuropathy type IF. Alternatively spliced transcript variants that encode distinct isoforms have been described. [provided by RefSeq, Feb 2014]", "soTermId": "SO:0001217", "name": "atlastin GTPase 3", "basicGeneticEntity": { "synonyms": [ "AT3", "ATL-3", "DKFZp564J0863", "HSN1F", "atlastin 3", "atlastin-3" ], "secondaryIds": [ "RGD:1601766" ], "genomeLocations": [ { "strand": "-", "endPosition": 63671974, "chromosome": "11", "assembly": "GRCh38", "startPosition": 63624087 } ], "primaryId": "HGNC:24526", "crossReferences": [ { "id": "ENSEMBL:ENSG00000184743" }, { "id": "NCBI_Gene:25923" }, { "id": "PANTHER:PTHR10751" }, { "id": "UniProtKB:Q6DD88" }, { "pages": [ "gene/references" ], "id": "RGD:1601766" }, { "pages": [ "gene" ], "id": "HGNC:24526" }, { "id": "RGD:1601766" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATM", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ATM serine/threonine kinase", "basicGeneticEntity": { "synonyms": [ "A-T mutated", "AT mutated", "AT1", "ATA", "ATC", "ATD", "ATDC", "ATE", "DKFZp781A0353", "MGC74674", "TEL1", "TEL1, telomere maintenance 1, homolog", "TELO1", "ataxia telangiectasia mutated", "ataxia telangiectasia mutated (includes complementation groups A, C and D)", "human phosphatidylinositol 3-kinase homolog", "serine-protein kinase ATM", "serine/threonine kinase ATM", "truncated ATM serine/threonine kinase" ], "secondaryIds": [ "RGD:1606040" ], "genomeLocations": [ { "strand": "+", "endPosition": 108369102, "chromosome": "11", "assembly": "GRCh38", "startPosition": 108222804 } ], "primaryId": "HGNC:795", "crossReferences": [ { "id": "ENSEMBL:ENSG00000149311" }, { "id": "NCBI_Gene:472" }, { "id": "PANTHER:PTHR37079" }, { "id": "UniProtKB:Q13315" }, { "pages": [ "gene/references" ], "id": "RGD:1606040" }, { "pages": [ "gene" ], "id": "HGNC:795" }, { "id": "RGD:1606040" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATMIN", "geneSynopsis": "Enables dynein complex binding activity. Involved in positive regulation of DNA-templated transcription. Located in nuclear body. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ATM interactor", "basicGeneticEntity": { "synonyms": [ "ASCIZ", "ATM INteracting protein", "ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM/ATR-substrate CHEK2-interacting zinc finger protein", "ATM/ATR-substrate CHK2-interacting zinc finger protein", "DKFZp779K1455", "FLJ50270", "FLJ61620", "FLJ76795", "KIAA0431", "ZNF822", "zinc finger protein 822" ], "secondaryIds": [ "RGD:1603699" ], "genomeLocations": [ { "strand": "+", "endPosition": 81047350, "chromosome": "16", "assembly": "GRCh38", "startPosition": 81035842 } ], "primaryId": "HGNC:29034", "crossReferences": [ { "id": "ENSEMBL:ENSG00000291953" }, { "id": "ENSEMBL:ENSG00000166454" }, { "id": "NCBI_Gene:23300" }, { "id": "PANTHER:PTHR46664" }, { "id": "UniProtKB:O43313" }, { "pages": [ "gene/references" ], "id": "RGD:1603699" }, { "pages": [ "gene" ], "id": "HGNC:29034" }, { "id": "RGD:1603699" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATMINP1", "soTermId": "SO:0000336", "name": "ATMIN pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AL157384.1", "ATM interactor (ATMIN) pseudogene", "ATM interactor pseudogene", "LOC643342" ], "secondaryIds": [ "RGD:16554662" ], "genomeLocations": [ { "strand": "+", "endPosition": 95295007, "chromosome": "9", "assembly": "GRCh38", "startPosition": 95292309 } ], "primaryId": "HGNC:58530", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230221" }, { "id": "NCBI_Gene:643342" }, { "pages": [ "gene/references" ], "id": "RGD:16554662" }, { "pages": [ "gene" ], "id": "HGNC:58530" }, { "id": "RGD:16554662" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATMINP2", "soTermId": "SO:0000336", "name": "ATMIN pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ATM interactor pseudogene", "LOC100418940" ], "secondaryIds": [ "RGD:38623746" ], "genomeLocations": [ { "strand": "-", "endPosition": 55581459, "chromosome": "12", "assembly": "GRCh38", "startPosition": 55580377 } ], "primaryId": "HGNC:58531", "crossReferences": [ { "id": "NCBI_Gene:100418940" }, { "pages": [ "gene/references" ], "id": "RGD:38623746" }, { "pages": [ "gene" ], "id": "HGNC:58531" }, { "id": "RGD:38623746" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATN1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "atrophin 1", "basicGeneticEntity": { "synonyms": [ "B37", "CHEDDA", "D12S755E", "DRPLA", "HRS", "NOD", "atrophin-1", "dentatorubral-pallidoluysian atrophy (atrophin-1)", "dentatorubral-pallidoluysian atrophy protein" ], "secondaryIds": [ "RGD:1352790" ], "genomeLocations": [ { "strand": "+", "endPosition": 6942322, "chromosome": "12", "assembly": "GRCh38", "startPosition": 6924459 } ], "primaryId": "HGNC:3033", "crossReferences": [ { "id": "ENSEMBL:ENSG00000111676" }, { "id": "NCBI_Gene:1822" }, { "id": "PANTHER:PTHR13859" }, { "id": "UniProtKB:P54259" }, { "pages": [ "gene/references" ], "id": "RGD:1352790" }, { "pages": [ "gene" ], "id": "HGNC:3033" }, { "id": "RGD:1352790" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATOH1", "geneSynopsis": "Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in several processes, including neuron differentiation; positive regulation of neuron differentiation; and positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including generation of neurons; neuroblast migration; and positive regulation of inner ear auditory receptor cell differentiation. Predicted to be located in chromatin. Predicted to be active in nucleus. Implicated in autosomal dominant nonsyndromic deafness 89. [provided by Alliance of Genome Resources, Apr 2025]", "soTermId": "SO:0001217", "name": "atonal bHLH transcription factor 1", "basicGeneticEntity": { "synonyms": [ "ATH1", "DFNA89", "HATH1", "MATH-1", "atonal homolog 1", "atonal homolog bHLH transcription factor 1", "bHLHa14", "basic helix-loop-helix family member a14", "class A basic helix-loop-helix protein 14", "helix-loop-helix protein hATH-1", "transcription factor ATOH1" ], "secondaryIds": [ "RGD:1349240" ], "genomeLocations": [ { "strand": "+", "endPosition": 93830964, "chromosome": "4", "assembly": "GRCh38", "startPosition": 93828753 } ], "primaryId": "HGNC:797", "crossReferences": [ { "id": "ENSEMBL:ENSG00000172238" }, { "id": "NCBI_Gene:474" }, { "id": "PANTHER:PTHR19290" }, { "id": "UniProtKB:Q92858" }, { "pages": [ "gene/references" ], "id": "RGD:1349240" }, { "pages": [ "gene" ], "id": "HGNC:797" }, { "id": "RGD:1349240" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATOH7", "geneSynopsis": "This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice suggest that this gene plays a central role in retinal ganglion cell and optic nerve formation. Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment. [provided by RefSeq, Dec 2011]", "soTermId": "SO:0001217", "name": "atonal bHLH transcription factor 7", "basicGeneticEntity": { "synonyms": [ "Math5", "NCRNA", "PHPVAR", "RNANC", "atonal homolog 7", "atonal homolog bHLH transcription factor 7", "bHLHa13", "class A basic helix-loop-helix protein 13", "hATH5", "helix-loop-helix protein hATH-5", "transcription factor ATOH7" ], "secondaryIds": [ "RGD:1312698" ], "genomeLocations": [ { "strand": "-", "endPosition": 68232113, "chromosome": "10", "assembly": "GRCh38", "startPosition": 68230595 } ], "primaryId": "HGNC:13907", "crossReferences": [ { "id": "ENSEMBL:ENSG00000179774" }, { "id": "NCBI_Gene:220202" }, { "id": "PANTHER:PTHR19290" }, { "id": "UniProtKB:Q8N100" }, { "pages": [ "gene/references" ], "id": "RGD:1312698" }, { "pages": [ "gene" ], "id": "HGNC:13907" }, { "id": "RGD:1312698" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATOH8", "geneSynopsis": "Enables DNA-binding transcription factor activity and E-box binding activity. Involved in several processes, including positive regulation of SMAD protein signal transduction; positive regulation of endothelial cell differentiation; and regulation of gene expression. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "atonal bHLH transcription factor 8", "basicGeneticEntity": { "synonyms": [ "FLJ14708", "FLJ38730", "HATH6", "atonal homolog 6", "atonal homolog 8", "atonal homolog bHLH transcription factor 8", "bHLHa21", "basic helix loop helix transcription factor 6", "basic helix-loop-helix transcription factor 6", "class A basic helix-loop-helix protein 21", "helix-loop-helix protein hATH-6", "transcription factor ATOH8" ], "secondaryIds": [ "RGD:1350083" ], "genomeLocations": [ { "strand": "+", "endPosition": 85791383, "chromosome": "2", "assembly": "GRCh38", "startPosition": 85751344 } ], "primaryId": "HGNC:24126", "crossReferences": [ { "id": "ENSEMBL:ENSG00000168874" }, { "id": "NCBI_Gene:84913" }, { "id": "PANTHER:PTHR19290" }, { "id": "UniProtKB:Q96SQ7" }, { "pages": [ "gene/references" ], "id": "RGD:1350083" }, { "pages": [ "gene" ], "id": "HGNC:24126" }, { "id": "RGD:1350083" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATOSA", "geneSynopsis": "Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "atos homolog A", "basicGeneticEntity": { "synonyms": [ "FAM214A", "FLJ10980", "KIAA1370", "MGC126494", "MGC126495", "atos homolog protein A", "family with sequence similarity 214 member A", "family with sequence similarity 214, member A", "hypothetical protein LOC56204", "uncharacterized protein KIAA1370" ], "secondaryIds": [ "RGD:1606264" ], "genomeLocations": [ { "strand": "-", "endPosition": 52709817, "chromosome": "15", "assembly": "GRCh38", "startPosition": 52581317 } ], "primaryId": "HGNC:25609", "crossReferences": [ { "id": "ENSEMBL:ENSG00000047346" }, { "id": "NCBI_Gene:56204" }, { "id": "PANTHER:PTHR13199" }, { "id": "UniProtKB:Q32MH5" }, { "pages": [ "gene/references" ], "id": "RGD:1606264" }, { "pages": [ "gene" ], "id": "HGNC:25609" }, { "id": "RGD:1606264" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATOSB", "geneSynopsis": "Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "atos homolog B", "basicGeneticEntity": { "synonyms": [ "FAM214B", "FLJ11560", "KIAA1539", "P1.11659_5", "RP11-182N22.6", "atos homolog protein B", "bA182N22.6", "family with sequence similarity 214 member B", "family with sequence similarity 214, member B", "hypothetical protein LOC80256", "uncharacterized protein KIAA1539" ], "secondaryIds": [ "RGD:1322605" ], "genomeLocations": [ { "strand": "-", "endPosition": 35116380, "chromosome": "9", "assembly": "GRCh38", "startPosition": 35104112 } ], "primaryId": "HGNC:25666", "crossReferences": [ { "id": "ENSEMBL:ENSG00000005238" }, { "id": "NCBI_Gene:80256" }, { "id": "PANTHER:PTHR13199" }, { "id": "UniProtKB:Q7L5A3" }, { "pages": [ "gene/references" ], "id": "RGD:1322605" }, { "pages": [ "gene" ], "id": "HGNC:25666" }, { "id": "RGD:1322605" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATOSBP1", "soTermId": "SO:0000336", "name": "ATOSB pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AC093010.1", "FAM214B pseudogene 1", "FAM214BP1", "novel pseudogene" ], "secondaryIds": [ "RGD:14995382" ], "genomeLocations": [ { "strand": "-", "endPosition": 114233221, "chromosome": "3", "assembly": "GRCh38", "startPosition": 114231201 } ], "primaryId": "HGNC:54597", "crossReferences": [ { "id": "ENSEMBL:ENSG00000240487" }, { "id": "NCBI_Gene:645180" }, { "pages": [ "gene/references" ], "id": "RGD:14995382" }, { "pages": [ "gene" ], "id": "HGNC:54597" }, { "id": "RGD:14995382" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATOX1", "geneSynopsis": "This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "antioxidant 1 copper chaperone", "basicGeneticEntity": { "synonyms": [ "ATX1", "ATX1 antioxidant protein 1 homolog", "HAH1", "MGC138453", "MGC138455", "atx1 (antioxidant protein 1) homolog 1 (yeast)", "copper transport protein ATOX1", "metal transport protein ATX1" ], "secondaryIds": [ "RGD:737338" ], "genomeLocations": [ { "strand": "-", "endPosition": 151772532, "chromosome": "5", "assembly": "GRCh38", "startPosition": 151738084 } ], "primaryId": "HGNC:798", "crossReferences": [ { "id": "ENSEMBL:ENSG00000177556" }, { "id": "NCBI_Gene:475" }, { "id": "PANTHER:PTHR46365" }, { "id": "UniProtKB:O00244" }, { "pages": [ "gene/references" ], "id": "RGD:737338" }, { "pages": [ "gene" ], "id": "HGNC:798" }, { "id": "RGD:737338" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATOX1-AS1", "soTermId": "SO:0001263", "name": "ATOX1 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AC091982.1", "LOC105378235", "uncharacterized LOC105378235" ], "secondaryIds": [ "RGD:38658328" ], "genomeLocations": [ { "strand": "+", "endPosition": 151767247, "chromosome": "5", "assembly": "GRCh38", "startPosition": 151753054 } ], "primaryId": "HGNC:55528", "crossReferences": [ { "id": "ENSEMBL:ENSG00000253921" }, { "id": "NCBI_Gene:105378235" }, { "pages": [ "gene/references" ], "id": "RGD:38658328" }, { "pages": [ "gene" ], "id": "HGNC:55528" }, { "id": "RGD:38658328" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP10A", "geneSynopsis": "The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase phospholipid transporting 10A (putative)", "basicGeneticEntity": { "synonyms": [ "ATP10C", "ATPVA", "ATPVC", "ATPase type IV, phospholipid transporting (P-type)", "ATPase, Class V, type 10C", "ATPase, class V, type 10A", "KIAA0566", "P4-ATPase flippase complex alpha subunit ATP10A", "aminophospholipid translocase VA", "phospholipid-transporting ATPase VA", "probable phospholipid-transporting ATPase VA" ], "secondaryIds": [ "RGD:1314601" ], "genomeLocations": [ { "strand": "-", "endPosition": 25865184, "chromosome": "15", "assembly": "GRCh38", "startPosition": 25672237 } ], "primaryId": "HGNC:13542", "crossReferences": [ { "id": "ENSEMBL:ENSG00000206190" }, { "id": "NCBI_Gene:57194" }, { "id": "PANTHER:PTHR24092" }, { "id": "UniProtKB:O60312" }, { "pages": [ "gene/references" ], "id": "RGD:1314601" }, { "pages": [ "gene" ], "id": "HGNC:13542" }, { "id": "RGD:1314601" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP10A-DT", "soTermId": "SO:0001263", "name": "ATP10A divergent transcript", "basicGeneticEntity": { "synonyms": [ "LOC105370738", "uncharacterized LOC105370738" ], "secondaryIds": [ "RGD:38613306" ], "genomeLocations": [ { "strand": "+", "endPosition": 25877219, "chromosome": "15", "assembly": "GRCh38", "startPosition": 25865264 } ], "primaryId": "HGNC:55434", "crossReferences": [ { "id": "ENSEMBL:ENSG00000259011" }, { "id": "NCBI_Gene:105370738" }, { "pages": [ "gene/references" ], "id": "RGD:38613306" }, { "pages": [ "gene" ], "id": "HGNC:55434" }, { "id": "RGD:38613306" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP10B", "geneSynopsis": "Enables glycosylceramide flippase activity and phosphatidylcholine flippase activity. Involved in lysosomal membrane organization. Located in endoplasmic reticulum; late endosome membrane; and lysosomal membrane. Part of phospholipid-translocating ATPase complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ATPase phospholipid transporting 10B (putative)", "basicGeneticEntity": { "synonyms": [ "ATPVB", "ATPase, class V, type 10B", "FLJ21477", "KIAA0715", "P4-ATPase flippase complex alpha subunit ATP10B", "phospholipid-transporting ATPase VB", "probable phospholipid-transporting ATPase VB" ], "secondaryIds": [ "RGD:1345428" ], "genomeLocations": [ { "strand": "-", "endPosition": 160929360, "chromosome": "5", "assembly": "GRCh38", "startPosition": 160563120 } ], "primaryId": "HGNC:13543", "crossReferences": [ { "id": "ENSEMBL:ENSG00000118322" }, { "id": "NCBI_Gene:23120" }, { "id": "PANTHER:PTHR24092" }, { "id": "UniProtKB:O94823" }, { "pages": [ "gene/references" ], "id": "RGD:1345428" }, { "pages": [ "gene" ], "id": "HGNC:13543" }, { "id": "RGD:1345428" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP10D", "geneSynopsis": "Enables glycosylceramide flippase activity. Predicted to be involved in phospholipid translocation. Located in endoplasmic reticulum; nucleoplasm; and plasma membrane. Part of phospholipid-translocating ATPase complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ATPase phospholipid transporting 10D (putative)", "basicGeneticEntity": { "synonyms": [ "ATPVD", "ATPase, class V, type 10D", "KIAA1487", "P4-ATPase flippase complex alpha subunit ATP10D", "phospholipid-transporting ATPase VD", "probable phospholipid-transporting ATPase VD", "type IV aminophospholipid transporting ATPase" ], "secondaryIds": [ "RGD:1316047" ], "genomeLocations": [ { "strand": "+", "endPosition": 47593486, "chromosome": "4", "assembly": "GRCh38", "startPosition": 47485275 } ], "primaryId": "HGNC:13549", "crossReferences": [ { "id": "ENSEMBL:ENSG00000145246" }, { "id": "NCBI_Gene:57205" }, { "id": "PANTHER:PTHR24092" }, { "id": "UniProtKB:Q9P241" }, { "pages": [ "gene/references" ], "id": "RGD:1316047" }, { "pages": [ "gene" ], "id": "HGNC:13549" }, { "id": "RGD:1316047" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP10D-DT", "soTermId": "SO:0001263", "name": "ATP10D divergent transcript", "basicGeneticEntity": { "secondaryIds": [ "RGD:629021568" ], "primaryId": "HGNC:58781", "crossReferences": [ { "id": "NCBI_Gene:144093412" }, { "pages": [ "gene/references" ], "id": "RGD:629021568" }, { "pages": [ "gene" ], "id": "HGNC:58781" }, { "id": "RGD:629021568" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP11A", "geneSynopsis": "The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. [provided by RefSeq, Apr 2022]", "soTermId": "SO:0001217", "name": "ATPase phospholipid transporting 11A", "basicGeneticEntity": { "synonyms": [ "ATPIH", "ATPIS", "ATPase, class VI, type 11A", "AUNA2", "DFNA84", "HLD24", "P4-ATPase flippase complex alpha subunit ATP11A", "phospholipid-translocating ATPase", "phospholipid-transporting ATPase IH", "potential phospholipid-transporting ATPase IH", "probable phospholipid-transporting ATPase IH" ], "secondaryIds": [ "RGD:1318606" ], "genomeLocations": [ { "strand": "+", "endPosition": 112887168, "chromosome": "13", "assembly": "GRCh38", "startPosition": 112689911 } ], "primaryId": "HGNC:13552", "crossReferences": [ { "id": "ENSEMBL:ENSG00000068650" }, { "id": "NCBI_Gene:23250" }, { "id": "PANTHER:PTHR24092" }, { "id": "UniProtKB:P98196" }, { "pages": [ "gene/references" ], "id": "RGD:1318606" }, { "pages": [ "gene" ], "id": "HGNC:13552" }, { "id": "RGD:1318606" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP11A-AS1", "geneSynopsis": "INTERACTS WITH 2-hydroxypropanoic acid; rac-lactic acid", "soTermId": "SO:0001263", "name": "ATP11A antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481163" ], "genomeLocations": [ { "strand": "-", "endPosition": 112754731, "chromosome": "13", "assembly": "GRCh38", "startPosition": 112745449 } ], "primaryId": "HGNC:40645", "crossReferences": [ { "id": "ENSEMBL:ENSG00000232684" }, { "id": "NCBI_Gene:100874205" }, { "pages": [ "gene/references" ], "id": "RGD:6481163" }, { "pages": [ "gene" ], "id": "HGNC:40645" }, { "id": "RGD:6481163" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP11AUN", "geneSynopsis": "INTERACTS WITH Aflatoxin B2 alpha; arsane; arsenic atom", "soTermId": "SO:0001263", "name": "ATP11A upstream neighbor lncRNA", "basicGeneticEntity": { "synonyms": [ "ATP11A upstream neighbor", "C13orf35", "FLJ26443", "SMABLO1", "putative protein ATP11AUN", "putative uncharacterized protein C13orf35", "small blood protein 1" ], "secondaryIds": [ "RGD:1601909" ], "genomeLocations": [ { "strand": "+", "endPosition": 112684497, "chromosome": "13", "assembly": "GRCh38", "startPosition": 112647044 } ], "primaryId": "HGNC:33793", "crossReferences": [ { "id": "ENSEMBL:ENSG00000197595" }, { "id": "NCBI_Gene:400165" }, { "id": "UniProtKB:Q6ZP68" }, { "pages": [ "gene/references" ], "id": "RGD:1601909" }, { "pages": [ "gene" ], "id": "HGNC:33793" }, { "id": "RGD:1601909" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP11B", "geneSynopsis": "P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005]", "soTermId": "SO:0001217", "name": "ATPase phospholipid transporting 11B (putative)", "basicGeneticEntity": { "synonyms": [ "ATPIF", "ATPIR", "ATPase IR", "ATPase, class VI, type 11B", "DKFZp434J238", "DKFZp434N1615", "KIAA0956", "MGC46576", "P4-ATPase flippase complex alpha subunit ATP11B", "phospholipid-transporting ATPase IF", "probable phospholipid-transporting ATPase IF", "truncated ATPase 11B protein" ], "secondaryIds": [ "RGD:1348822" ], "genomeLocations": [ { "strand": "+", "endPosition": 182923011, "chromosome": "3", "assembly": "GRCh38", "startPosition": 182793472 } ], "primaryId": "HGNC:13553", "crossReferences": [ { "id": "ENSEMBL:ENSG00000058063" }, { "id": "NCBI_Gene:23200" }, { "id": "PANTHER:PTHR24092" }, { "id": "UniProtKB:Q9Y2G3" }, { "pages": [ "gene/references" ], "id": "RGD:1348822" }, { "pages": [ "gene" ], "id": "HGNC:13553" }, { "id": "RGD:1348822" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP11B-DT", "soTermId": "SO:0001263", "name": "ATP11B divergent transcript", "basicGeneticEntity": { "synonyms": [ "LOC105374245", "uncharacterized LOC105374245" ], "secondaryIds": [ "RGD:38629563" ], "genomeLocations": [ { "strand": "-", "endPosition": 182793364, "chromosome": "3", "assembly": "GRCh38", "startPosition": 182782599 } ], "primaryId": "HGNC:55642", "crossReferences": [ { "id": "NCBI_Gene:105374245" }, { "pages": [ "gene/references" ], "id": "RGD:38629563" }, { "pages": [ "gene" ], "id": "HGNC:55642" }, { "id": "RGD:38629563" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP11C", "geneSynopsis": "Enables phosphatidylethanolamine flippase activity and phosphatidylserine flippase activity. Involved in phospholipid translocation. Located in endoplasmic reticulum and plasma membrane. Part of phospholipid-translocating ATPase complex. Implicated in X-linked congenital hemolytic anemia. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ATPase phospholipid transporting 11C (ATP11C blood group)", "basicGeneticEntity": { "synonyms": [ "ATPIG", "ATPIQ", "ATPase phospholipid transporting 11C", "ATPase, class VI, type 11C", "HACXL", "P4-ATPase flippase complex alpha subunit ATP11C", "phospholipid-transporting ATPase IG", "probable phospholipid-transporting ATPase IG" ], "secondaryIds": [ "RGD:1351598" ], "genomeLocations": [ { "strand": "-", "endPosition": 139945276, "chromosome": "X", "assembly": "GRCh38", "startPosition": 139726346 } ], "primaryId": "HGNC:13554", "crossReferences": [ { "id": "ENSEMBL:ENSG00000101974" }, { "id": "NCBI_Gene:286410" }, { "id": "PANTHER:PTHR24092" }, { "id": "UniProtKB:Q8NB49" }, { "pages": [ "gene/references" ], "id": "RGD:1351598" }, { "pages": [ "gene" ], "id": "HGNC:13554" }, { "id": "RGD:1351598" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP12A", "geneSynopsis": "The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in various tissues. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]", "soTermId": "SO:0001217", "name": "ATPase H+/K+ transporting non-gastric alpha2 subunit", "basicGeneticEntity": { "synonyms": [ "ATP1AL1", "ATPase, H+/K+ transporting, nongastric, alpha polypeptide", "ATPase, Na+/K+ transporting, alpha polypeptide-like 1", "ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "H-K-ATPase", "HK", "HK alpha 2", "non-gastric H(+)/K(+) ATPase alpha subunit", "non-gastric H(+)/K(+) ATPase subunit alpha", "non-gastric Na(+)/K(+) ATPase subunit alpha", "potassium-transporting ATPase alpha chain 2", "proton pump", "sodium pump", "sodium/potassium ATPase, alpha polypeptide-like" ], "secondaryIds": [ "RGD:734042" ], "genomeLocations": [ { "strand": "+", "endPosition": 24712472, "chromosome": "13", "assembly": "GRCh38", "startPosition": 24680408 } ], "primaryId": "HGNC:13816", "crossReferences": [ { "id": "ENSEMBL:ENSG00000075673" }, { "id": "NCBI_Gene:479" }, { "id": "PANTHER:PTHR43294" }, { "id": "UniProtKB:P54707" }, { "pages": [ "gene/references" ], "id": "RGD:734042" }, { "pages": [ "gene" ], "id": "HGNC:13816" }, { "id": "RGD:734042" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP13A1", "geneSynopsis": "Enables membrane protein dislocase activity. Involved in extraction of mislocalized protein from ER membrane. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ATPase 13A1", "basicGeneticEntity": { "synonyms": [ "ATP13A", "ATPase type 13A1", "CGI-152", "DKFZp761L1623", "FLJ31858", "FLJ41786", "FLJ43873", "FLJ90317", "KIAA1825", "cation transporting ATPase", "endoplasmic reticulum P5A-ATPase", "endoplasmic reticulum transmembrane helix translocase", "manganese-transporting ATPase 13A1", "probable cation-transporting ATPase 13A1" ], "secondaryIds": [ "RGD:1346886" ], "genomeLocations": [ { "strand": "-", "endPosition": 19663700, "chromosome": "19", "assembly": "GRCh38", "startPosition": 19645198 } ], "primaryId": "HGNC:24215", "crossReferences": [ { "id": "ENSEMBL:ENSG00000105726" }, { "id": "NCBI_Gene:57130" }, { "id": "PANTHER:PTHR45630" }, { "id": "UniProtKB:Q9HD20" }, { "pages": [ "gene/references" ], "id": "RGD:1346886" }, { "pages": [ "gene" ], "id": "HGNC:24215" }, { "id": "RGD:1346886" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP13A2", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ATPase cation transporting 13A2", "basicGeneticEntity": { "synonyms": [ "ATPase 13A2", "ATPase type 13A2", "CLN12", "FLJ26510", "HSA9947", "KRPPD", "PARK9", "Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)", "RP1-37C10.4", "SPG78", "cation-transporting ATPase 13A2", "polyamine-transporting ATPase 13A2", "probable cation-transporting ATPase 13A2", "putative ATPase" ], "secondaryIds": [ "RGD:1342911" ], "genomeLocations": [ { "strand": "-", "endPosition": 17011928, "chromosome": "1", "assembly": "GRCh38", "startPosition": 16985958 } ], "primaryId": "HGNC:30213", "crossReferences": [ { "id": "ENSEMBL:ENSG00000159363" }, { "id": "NCBI_Gene:23400" }, { "id": "PANTHER:PTHR45630" }, { "id": "UniProtKB:Q9NQ11" }, { "pages": [ "gene/references" ], "id": "RGD:1342911" }, { "pages": [ "gene" ], "id": "HGNC:30213" }, { "id": "RGD:1342911" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP13A3", "geneSynopsis": "ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OMIM, Aug 2008]", "soTermId": "SO:0001217", "name": "ATPase 13A3", "basicGeneticEntity": { "synonyms": [ "AFURS1", "ATPase family homolog up-regulated in senescence cells 1", "ATPase type 13A3", "DKFZp686K16189", "FLJ90613", "PPH5", "polyamine-transporting ATPase 13A3", "probable cation-transporting ATPase 13A3", "putrescine transporting ATPase" ], "secondaryIds": [ "RGD:1353842" ], "genomeLocations": [ { "strand": "-", "endPosition": 194498364, "chromosome": "3", "assembly": "GRCh38", "startPosition": 194402672 } ], "primaryId": "HGNC:24113", "crossReferences": [ { "id": "ENSEMBL:ENSG00000133657" }, { "id": "NCBI_Gene:79572" }, { "id": "PANTHER:PTHR45630" }, { "id": "UniProtKB:Q9H7F0" }, { "pages": [ "gene/references" ], "id": "RGD:1353842" }, { "pages": [ "gene" ], "id": "HGNC:24113" }, { "id": "RGD:1353842" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP13A3-DT", "geneSynopsis": "INTERACTS WITH methylisothiazolinone", "soTermId": "SO:0001263", "name": "ATP13A3 divergent transcript", "basicGeneticEntity": { "synonyms": [ "LINC00884", "long intergenic non-protein coding RNA 884" ], "secondaryIds": [ "RGD:7254735" ], "genomeLocations": [ { "strand": "+", "endPosition": 194521156, "chromosome": "3", "assembly": "GRCh38", "startPosition": 194487120 } ], "primaryId": "HGNC:48570", "crossReferences": [ { "id": "ENSEMBL:ENSG00000233058" }, { "id": "NCBI_Gene:401106" }, { "pages": [ "gene/references" ], "id": "RGD:7254735" }, { "pages": [ "gene" ], "id": "HGNC:48570" }, { "id": "RGD:7254735" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP13A4", "geneSynopsis": "Predicted to enable ATPase-coupled monoatomic cation transmembrane transporter activity and polyamine transmembrane transporter activity. Predicted to be involved in intracellular calcium ion homeostasis and polyamine transmembrane transport. Predicted to be located in early endosome membrane and recycling endosome membrane. Predicted to be active in endoplasmic reticulum membrane and late endosome membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ATPase 13A4", "basicGeneticEntity": { "synonyms": [ "ATPase type 13A4", "DKFZp761I1011", "MGC126545", "P5-ATPase", "cation-transporting P5-ATPase", "probable cation-transporting ATPase 13A4", "putative cation-transporting ATPase 13A4" ], "secondaryIds": [ "RGD:1346317" ], "genomeLocations": [ { "strand": "-", "endPosition": 193593119, "chromosome": "3", "assembly": "GRCh38", "startPosition": 193398967 } ], "primaryId": "HGNC:25422", "crossReferences": [ { "id": "ENSEMBL:ENSG00000127249" }, { "id": "NCBI_Gene:84239" }, { "id": "PANTHER:PTHR45630" }, { "id": "UniProtKB:Q4VNC1" }, { "pages": [ "gene/references" ], "id": "RGD:1346317" }, { "pages": [ "gene" ], "id": "HGNC:25422" }, { "id": "RGD:1346317" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP13A4-AS1", "geneSynopsis": "INTERACTS WITH cadmium dichloride; sodium arsenite", "soTermId": "SO:0001263", "name": "ATP13A4 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481170" ], "genomeLocations": [ { "strand": "+", "endPosition": 193555586, "chromosome": "3", "assembly": "GRCh38", "startPosition": 193506780 } ], "primaryId": "HGNC:41095", "crossReferences": [ { "id": "ENSEMBL:ENSG00000225473" }, { "id": "NCBI_Gene:101929198" }, { "pages": [ "gene/references" ], "id": "RGD:6481170" }, { "pages": [ "gene" ], "id": "HGNC:41095" }, { "id": "RGD:6481170" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP13A5", "geneSynopsis": "This gene encodes a member of the P5 subfamily of P-type transport ATPases. P-type ATPases form a large superfamily of cation and lipid pumps that transport inorganic cations and other substrates across cell membranes. P5 ATPases are localized to membranes of the endoplasmic reticulum (ER) and serve many important functions including transport of cargo proteins to the Golgi, glycosylation and cell wall biosynthesis, control of protein insertion orientation, 3-hydroxy-3-methylglutaryl-CoA reductase (HMGR) degradation, and sensitivity to unfolded protein response (UPR) activators. The encoded protein is organized into three cytoplasmic domains (A, P, and N) and two membrane-embedded domains (T and S). The N-domain binds ATP and serves as a built-in protein kinase, which phosphorylates the P-domain. The A-domain is an intrinsic protein phosphatase, which dephosphorylates the P-domain once during each catalytic cycle. [provided by RefSeq, Jul 2017]", "soTermId": "SO:0001217", "name": "ATPase 13A5", "basicGeneticEntity": { "synonyms": [ "ATPase type 13A5", "FLJ16025", "P5-ATPase", "probable cation-transporting ATPase 13A5", "putative cation-transporting ATPase 13A5" ], "secondaryIds": [ "RGD:1343803" ], "genomeLocations": [ { "strand": "-", "endPosition": 193378820, "chromosome": "3", "assembly": "GRCh38", "startPosition": 193274789 } ], "primaryId": "HGNC:31789", "crossReferences": [ { "id": "ENSEMBL:ENSG00000187527" }, { "id": "NCBI_Gene:344905" }, { "id": "PANTHER:PTHR45630" }, { "id": "UniProtKB:Q4VNC0" }, { "pages": [ "gene/references" ], "id": "RGD:1343803" }, { "pages": [ "gene" ], "id": "HGNC:31789" }, { "id": "RGD:1343803" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP13A5-AS1", "geneSynopsis": "INTERACTS WITH 2-palmitoylglycerol", "soTermId": "SO:0001263", "name": "ATP13A5 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481175" ], "genomeLocations": [ { "strand": "+", "endPosition": 193314521, "chromosome": "3", "assembly": "GRCh38", "startPosition": 193307244 } ], "primaryId": "HGNC:41281", "crossReferences": [ { "id": "ENSEMBL:ENSG00000236508" }, { "id": "NCBI_Gene:100874218" }, { "pages": [ "gene/references" ], "id": "RGD:6481175" }, { "pages": [ "gene" ], "id": "HGNC:41281" }, { "id": "RGD:6481175" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP1A1", "geneSynopsis": "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 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]", "soTermId": "SO:0001217", "name": "ATPase Na+/K+ transporting subunit alpha 1", "basicGeneticEntity": { "synonyms": [ "ATPase, Na+/K+ transporting, alpha 1 polypeptide", "CMT2DD", "HOMGSMR2", "MGC3285", "MGC51750", "Na(+)/K(+) ATPase alpha-1 subunit", "Na+, K+ ATPase alpha subunit", "Na+/K+ ATPase 1", "Na, K-ATPase, alpha-A catalytic polypeptide", "Na,K-ATPase alpha-1 subunit", "Na,K-ATPase catalytic subunit alpha-A protein", "sodium pump 1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1", "sodium-potassium-ATPase, alpha 1 polypeptide", "sodium/potassium-transporting ATPase subunit alpha-1" ], "secondaryIds": [ "RGD:735332" ], "genomeLocations": [ { "strand": "+", "endPosition": 116410261, "chromosome": "1", "assembly": "GRCh38", "startPosition": 116372668 } ], "primaryId": "HGNC:799", "crossReferences": [ { "id": "ENSEMBL:ENSG00000163399" }, { "id": "NCBI_Gene:476" }, { "id": "PANTHER:PTHR43294" }, { "id": "UniProtKB:P05023" }, { "pages": [ "gene/references" ], "id": "RGD:735332" }, { "pages": [ "gene" ], "id": "HGNC:799" }, { "id": "RGD:735332" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP1A1-AS1", "geneSynopsis": "Predicted to enable U4 snRNA binding activity. Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U6 snRNP. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001263", "name": "ATP1A1 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "ATP1A1OS", "C1orf203", "MGC16179" ], "secondaryIds": [ "RGD:1603000" ], "genomeLocations": [ { "strand": "-", "endPosition": 116421301, "chromosome": "1", "assembly": "GRCh38", "startPosition": 116378437 } ], "primaryId": "HGNC:28262", "crossReferences": [ { "id": "ENSEMBL:ENSG00000203865" }, { "id": "NCBI_Gene:84852" }, { "id": "UniProtKB:Q5TC04" }, { "pages": [ "gene/references" ], "id": "RGD:1603000" }, { "pages": [ "gene" ], "id": "HGNC:28262" }, { "id": "RGD:1603000" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP1A2", "geneSynopsis": "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 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]", "soTermId": "SO:0001217", "name": "ATPase Na+/K+ transporting subunit alpha 2", "basicGeneticEntity": { "synonyms": [ "ATPase Na+/K+ transporting alpha 2 polypeptide", "ATPase, Na+/K+ transporting, alpha 2 polypeptide", "DEE98", "FARIMPD", "FHM2", "MGC59864", "MHP2", "Na(+)/K(+) ATPase alpha-2 subunit", "Na+/K+ ATPase, alpha-A(+) catalytic polypeptide", "Na+/K+ ATPase, alpha-B polypeptide", "migraine, hemiplegic 2", "sodium pump subunit alpha-2", "sodium-potassium ATPase", "sodium-potassium ATPase catalytic subunit alpha-2", "sodium/potassium-transporting ATPase alpha-2 chain", "sodium/potassium-transporting ATPase subunit alpha-2" ], "secondaryIds": [ "RGD:736008" ], "genomeLocations": [ { "strand": "+", "endPosition": 160143595, "chromosome": "1", "assembly": "GRCh38", "startPosition": 160115758 } ], "primaryId": "HGNC:800", "crossReferences": [ { "id": "ENSEMBL:ENSG00000018625" }, { "id": "NCBI_Gene:477" }, { "id": "PANTHER:PTHR43294" }, { "id": "UniProtKB:P50993" }, { "pages": [ "gene/references" ], "id": "RGD:736008" }, { "pages": [ "gene" ], "id": "HGNC:800" }, { "id": "RGD:736008" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP1A3", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ATPase Na+/K+ transporting subunit alpha 3", "basicGeneticEntity": { "synonyms": [ "AHC2", "ATP1A1", "ATPase, Na+/K+ transporting, alpha 3 polypeptide", "CAPOS", "DEE99", "DYT12", "MGC13276", "Na(+)/K(+) ATPase alpha(III) subunit", "Na(+)/K(+) ATPase alpha-3 subunit", "Na+, K+ activated adenosine triphosphatase alpha subunit", "Na+/K+ ATPase 3", "RDP", "dystonia 12", "sodium pump 3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3", "sodium-potassium-ATPase, alpha 3 polypeptide", "sodium/potassium-transporting ATPase alpha-3 chain", "sodium/potassium-transporting ATPase subunit alpha-3" ], "secondaryIds": [ "RGD:732644" ], "genomeLocations": [ { "strand": "-", "endPosition": 41997497, "chromosome": "19", "assembly": "GRCh38", "startPosition": 41966582 } ], "primaryId": "HGNC:801", "crossReferences": [ { "id": "ENSEMBL:ENSG00000105409" }, { "id": "NCBI_Gene:478" }, { "id": "PANTHER:PTHR43294" }, { "id": "UniProtKB:P13637" }, { "pages": [ "gene/references" ], "id": "RGD:732644" }, { "pages": [ "gene" ], "id": "HGNC:801" }, { "id": "RGD:732644" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP1A4", "geneSynopsis": "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 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase Na+/K+ transporting subunit alpha 4", "basicGeneticEntity": { "synonyms": [ "ATP1A1", "ATP1AL2", "ATPase, Na+/K+ transporting, alpha 4 polypeptide", "ATPase, Na+/K+ transporting, alpha polypeptide-like 2", "MGC25056", "Na(+)/K(+) ATPase alpha-4 subunit", "Na+/K+ ATPase 4", "Na+/K+ ATPase, alpha-D polypeptide", "Na,K-ATPase subunit alpha-C", "sodium pump 4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4", "sodium/potassium-transporting ATPase alpha-4 chain", "sodium/potassium-transporting ATPase subunit alpha-4" ], "secondaryIds": [ "RGD:733097" ], "genomeLocations": [ { "strand": "+", "endPosition": 160186980, "chromosome": "1", "assembly": "GRCh38", "startPosition": 160151586 } ], "primaryId": "HGNC:14073", "crossReferences": [ { "id": "ENSEMBL:ENSG00000132681" }, { "id": "NCBI_Gene:480" }, { "id": "PANTHER:PTHR43294" }, { "id": "UniProtKB:Q13733" }, { "pages": [ "gene/references" ], "id": "RGD:733097" }, { "pages": [ "gene" ], "id": "HGNC:14073" }, { "id": "RGD:733097" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP1B1", "geneSynopsis": "The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, 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 beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been described, but their biological validity is not known. [provided by RefSeq, Mar 2010]", "soTermId": "SO:0001217", "name": "ATPase Na+/K+ transporting subunit beta 1", "basicGeneticEntity": { "synonyms": [ "ATP1B", "ATPase, Na+/K+ transporting, beta 1 polypeptide", "Beta 1-subunit of Na(+),K(+)-ATPase", "MGC1798", "Na, K-ATPase beta-1 polypeptide", "adenosinetriphosphatase", "atpase na+/k+ transporting beta 1 polypeptide", "sodium pump subunit beta-1", "sodium-potassium ATPase subunit beta 1 (non-catalytic)", "sodium/potassium-dependent ATPase beta-1 subunit", "sodium/potassium-transporting ATPase beta-1 chain", "sodium/potassium-transporting ATPase subunit beta-1" ], "secondaryIds": [ "RGD:735774" ], "genomeLocations": [ { "strand": "+", "endPosition": 169310992, "chromosome": "1", "assembly": "GRCh38", "startPosition": 169105697 } ], "primaryId": "HGNC:804", "crossReferences": [ { "id": "ENSEMBL:ENSG00000143153" }, { "id": "NCBI_Gene:481" }, { "id": "PANTHER:PTHR11523" }, { "id": "UniProtKB:P05026" }, { "pages": [ "gene/references" ], "id": "RGD:735774" }, { "pages": [ "gene" ], "id": "HGNC:804" }, { "id": "RGD:735774" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP1B1P1", "soTermId": "SO:0000336", "name": "ATPase Na+/K+ transporting subunit beta 1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ATP1BL1" ], "secondaryIds": [ "RGD:1352922" ], "genomeLocations": [ { "strand": "+", "endPosition": 42031264, "chromosome": "4", "assembly": "GRCh38", "startPosition": 42029068 } ], "primaryId": "HGNC:809", "crossReferences": [ { "id": "ENSEMBL:ENSG00000249212" }, { "id": "NCBI_Gene:485" }, { "pages": [ "gene/references" ], "id": "RGD:1352922" }, { "pages": [ "gene" ], "id": "HGNC:809" }, { "id": "RGD:1352922" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP1B2", "geneSynopsis": "The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, 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 beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]", "soTermId": "SO:0001217", "name": "ATPase Na+/K+ transporting subunit beta 2", "basicGeneticEntity": { "synonyms": [ "AMOG", "ATPase, Na+/K+ transporting, beta 2 polypeptide", "Na, K-ATPase beta-2 polypeptide", "adhesion molecule in glia", "adhesion molecule on glia", "sodium pump subunit beta-2", "sodium-potassium ATPase subunit beta 2 (non-catalytic)", "sodium/potassium-dependent ATPase beta-2 subunit", "sodium/potassium-dependent ATPase subunit beta-2", "sodium/potassium-transporting ATPase beta-2 chain", "sodium/potassium-transporting ATPase subunit beta-2" ], "secondaryIds": [ "RGD:736555" ], "genomeLocations": [ { "strand": "+", "endPosition": 7657770, "chromosome": "17", "assembly": "GRCh38", "startPosition": 7646627 } ], "primaryId": "HGNC:805", "crossReferences": [ { "id": "ENSEMBL:ENSG00000129244" }, { "id": "NCBI_Gene:482" }, { "id": "PANTHER:PTHR11523" }, { "id": "UniProtKB:P14415" }, { "pages": [ "gene/references" ], "id": "RGD:736555" }, { "pages": [ "gene" ], "id": "HGNC:805" }, { "id": "RGD:736555" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP1B3", "geneSynopsis": "The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, 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 beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 3 subunit. This gene encodes a beta 3 subunit. A pseudogene exists for this gene, and it is located on chromosome 2. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase Na+/K+ transporting subunit beta 3", "basicGeneticEntity": { "synonyms": [ "ATPB-3", "ATPase, Na+/K+ transporting, beta 3 polypeptide", "CD298", "FLJ29027", "Na, K-ATPase beta-3 polypeptide", "sodium pump subunit beta-3", "sodium-potassium ATPase subunit beta 3 (non-catalytic)", "sodium/potassium-dependent ATPase beta-3 subunit", "sodium/potassium-dependent ATPase subunit beta-3", "sodium/potassium-transporting ATPase beta-3 chain", "sodium/potassium-transporting ATPase subunit beta-3" ], "secondaryIds": [ "RGD:733031" ], "genomeLocations": [ { "strand": "+", "endPosition": 141926549, "chromosome": "3", "assembly": "GRCh38", "startPosition": 141876124 } ], "primaryId": "HGNC:806", "crossReferences": [ { "id": "ENSEMBL:ENSG00000069849" }, { "id": "NCBI_Gene:483" }, { "id": "PANTHER:PTHR11523" }, { "id": "UniProtKB:P54709" }, { "pages": [ "gene/references" ], "id": "RGD:733031" }, { "pages": [ "gene" ], "id": "HGNC:806" }, { "id": "RGD:733031" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP1B3-AS1", "soTermId": "SO:0001263", "name": "ATP1B3 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481283" ], "genomeLocations": [ { "strand": "-", "endPosition": 141919021, "chromosome": "3", "assembly": "GRCh38", "startPosition": 141918252 } ], "primaryId": "HGNC:40088", "crossReferences": [ { "id": "ENSEMBL:ENSG00000244124" }, { "id": "NCBI_Gene:100874077" }, { "pages": [ "gene/references" ], "id": "RGD:6481283" }, { "pages": [ "gene" ], "id": "HGNC:40088" }, { "id": "RGD:6481283" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP1B3P1", "soTermId": "SO:0000336", "name": "ATPase Na+/K+ transporting subunit beta 3 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:1348014" ], "genomeLocations": [ { "strand": "-", "endPosition": 60735925, "chromosome": "2", "assembly": "GRCh38", "startPosition": 60734390 } ], "primaryId": "HGNC:807", "crossReferences": [ { "id": "ENSEMBL:ENSG00000271707" }, { "id": "NCBI_Gene:484" }, { "pages": [ "gene/references" ], "id": "RGD:1348014" }, { "pages": [ "gene" ], "id": "HGNC:807" }, { "id": "RGD:1348014" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP1B4", "geneSynopsis": "This gene has been found in all vertebrate genomes sequenced to date. However, this gene has undergone a change in function in placental mammals compared to other species. Specifically, in fish, avian, and amphibian species, this gene encodes plasma membrane-bound beta-subunits of Na,K-ATPase. In placental mammals, the encoded protein interacts with the nuclear transcriptional coregulator SKIP and may be involved in the regulation of TGF-beta signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]", "soTermId": "SO:0001217", "name": "ATPase Na+/K+ transporting family member beta 4", "basicGeneticEntity": { "synonyms": [ "ATPase, Na+/K+ transporting, beta 4 polypeptide", "BetaM", "Na,K-ATPase beta m-subunit", "X,K-ATPase beta-m subunit", "x/potassium-transporting ATPase subunit beta-m" ], "secondaryIds": [ "RGD:736275" ], "genomeLocations": [ { "strand": "+", "endPosition": 120383249, "chromosome": "X", "assembly": "GRCh38", "startPosition": 120362085 } ], "primaryId": "HGNC:808", "crossReferences": [ { "id": "ENSEMBL:ENSG00000101892" }, { "id": "NCBI_Gene:23439" }, { "id": "PANTHER:PTHR11523" }, { "id": "UniProtKB:Q9UN42" }, { "pages": [ "gene/references" ], "id": "RGD:736275" }, { "pages": [ "gene" ], "id": "HGNC:808" }, { "id": "RGD:736275" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP23", "geneSynopsis": "The protein encoded by this gene is amplified in glioblastomas and interacts with the DNA binding subunit of DNA-dependent protein kinase. This kinase is involved in double-strand break repair (DSB), and higher expression of the encoded protein increases the efficiency of DSB. In addition, comparison to orthologous proteins strongly suggests that this protein is a metalloprotease important in the biosynthesis of mitochondrial ATPase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]", "soTermId": "SO:0001217", "name": "ATP23 metallopeptidase and ATP synthase assembly factor homolog", "basicGeneticEntity": { "synonyms": [ "ATP23 metallopeptidase and ATP synthase assembly factor homolog (S. cerevisiae)", "KUB3", "Ku70 binding protein 3", "Ku70-binding protein 3", "MGC134817", "MGC134818", "XRCC6 binding protein 1", "XRCC6-binding protein 1", "XRCC6BP1", "mitochondrial inner membrane protease ATP23 homolog" ], "secondaryIds": [ "RGD:1605901" ], "genomeLocations": [ { "strand": "+", "endPosition": 57959148, "chromosome": "12", "assembly": "GRCh38", "startPosition": 57906039 } ], "primaryId": "HGNC:29452", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166896" }, { "id": "ENSEMBL:ENSG00000262145" }, { "id": "NCBI_Gene:91419" }, { "id": "PANTHER:PTHR21711" }, { "id": "UniProtKB:Q9Y6H3" }, { "pages": [ "gene/references" ], "id": "RGD:1605901" }, { "pages": [ "gene" ], "id": "HGNC:29452" }, { "id": "RGD:1605901" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP2A1", "geneSynopsis": "This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]", "soTermId": "SO:0001217", "name": "ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1", "basicGeneticEntity": { "synonyms": [ "ATP2A", "ATPase, Ca++ transporting, cardiac muscle, fast twitch 1", "SERCA1", "SR Ca(2+)-ATPase 1", "calcium pump 1", "calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform", "endoplasmic reticulum class 1/2 Ca(2+) ATPase", "sarcoplasmic/endoplasmic reticulum calcium ATPase 1" ], "secondaryIds": [ "RGD:731640" ], "genomeLocations": [ { "strand": "+", "endPosition": 28904466, "chromosome": "16", "assembly": "GRCh38", "startPosition": 28878405 } ], "primaryId": "HGNC:811", "crossReferences": [ { "id": "ENSEMBL:ENSG00000196296" }, { "id": "NCBI_Gene:487" }, { "id": "PANTHER:PTHR42861" }, { "id": "UniProtKB:O14983" }, { "pages": [ "gene/references" ], "id": "RGD:731640" }, { "pages": [ "gene" ], "id": "HGNC:811" }, { "id": "RGD:731640" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP2A1-AS1", "geneSynopsis": "INTERACTS WITH 2,2',5,5'-tetrachlorobiphenyl; acrylamide; aflatoxin B1", "soTermId": "SO:0001263", "name": "ATP2A1 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:9588175" ], "genomeLocations": [ { "strand": "-", "endPosition": 28879950, "chromosome": "16", "assembly": "GRCh38", "startPosition": 28877938 } ], "primaryId": "HGNC:51370", "crossReferences": [ { "id": "ENSEMBL:ENSG00000260442" }, { "id": "NCBI_Gene:100289092" }, { "pages": [ "gene/references" ], "id": "RGD:9588175" }, { "pages": [ "gene" ], "id": "HGNC:51370" }, { "id": "RGD:9588175" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP2A2", "geneSynopsis": "This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of the skeletal muscle. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Other types of mutations in this gene have been associated with various forms of muscular dystrophies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2019]", "soTermId": "SO:0001217", "name": "ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2", "basicGeneticEntity": { "synonyms": [ "ATP2B", "ATPase Ca++ transporting cardiac muscle slow twitch 2", "ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2", "ATPase, Ca++ transporting, cardiac muscle, slow twitch 2", "DAR", "DD", "DKFZp686P0211", "FLJ20293", "FLJ38063", "MGC45367", "RHABDO2", "SERCA2", "SR Ca(2+)-ATPase 2", "calcium pump 2", "calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform", "cardiac Ca2+ ATPase", "endoplasmic reticulum class 1/2 Ca(2+) ATPase", "sarcoplasmic/endoplasmic reticulum calcium ATPase 2" ], "secondaryIds": [ "RGD:731733" ], "genomeLocations": [ { "strand": "+", "endPosition": 110351093, "chromosome": "12", "assembly": "GRCh38", "startPosition": 110280616 } ], "primaryId": "HGNC:812", "crossReferences": [ { "id": "ENSEMBL:ENSG00000174437" }, { "id": "NCBI_Gene:488" }, { "id": "PANTHER:PTHR42861" }, { "id": "UniProtKB:P16615" }, { "pages": [ "gene/references" ], "id": "RGD:731733" }, { "pages": [ "gene" ], "id": "HGNC:812" }, { "id": "RGD:731733" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP2A3", "geneSynopsis": "This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in calcium sequestration associated with muscular excitation and contraction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3", "basicGeneticEntity": { "synonyms": [ "ATPase, Ca(2+)-transporting, ubiquitous", "ATPase, Ca++ transporting, ubiquitous", "SERCA3", "SR Ca(2+)-ATPase 3", "adenosine triphosphatase, calcium", "calcium pump 3", "calcium-translocating P-type ATPase", "sarco/endoplasmic reticulum Ca2+ -ATPase", "sarco/endoplasmic reticulum Ca2+ ATPase", "sarcoplasmic/endoplasmic reticulum calcium ATPase 3" ], "secondaryIds": [ "RGD:732893" ], "genomeLocations": [ { "strand": "-", "endPosition": 3964491, "chromosome": "17", "assembly": "GRCh38", "startPosition": 3923866 } ], "primaryId": "HGNC:813", "crossReferences": [ { "id": "ENSEMBL:ENSG00000074370" }, { "id": "NCBI_Gene:489" }, { "id": "PANTHER:PTHR42861" }, { "id": "UniProtKB:Q93084" }, { "pages": [ "gene/references" ], "id": "RGD:732893" }, { "pages": [ "gene" ], "id": "HGNC:813" }, { "id": "RGD:732893" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP2B1", "geneSynopsis": "The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase plasma membrane Ca2+ transporting 1", "basicGeneticEntity": { "synonyms": [ "ATPase, Ca++ transporting, plasma membrane 1", "MRD66", "PMCA1", "PMCA1kb", "plasma membrane calcium ATPase", "plasma membrane calcium pump", "plasma membrane calcium-ATPase", "plasma membrane calcium-transporting ATPase 1" ], "secondaryIds": [ "RGD:732984" ], "genomeLocations": [ { "strand": "-", "endPosition": 89709527, "chromosome": "12", "assembly": "GRCh38", "startPosition": 89588049 } ], "primaryId": "HGNC:814", "crossReferences": [ { "id": "ENSEMBL:ENSG00000070961" }, { "id": "NCBI_Gene:490" }, { "id": "PANTHER:PTHR24093" }, { "id": "UniProtKB:P20020" }, { "pages": [ "gene/references" ], "id": "RGD:732984" }, { "pages": [ "gene" ], "id": "HGNC:814" }, { "id": "RGD:732984" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP2B1-AS1", "geneSynopsis": "INTERACTS WITH 17beta-estradiol; cadmium dichloride; cisplatin", "soTermId": "SO:0001263", "name": "ATP2B1 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LINC00936", "RP11-591N1.1", "long intergenic non-protein coding RNA 936" ], "secondaryIds": [ "RGD:7244512" ], "genomeLocations": [ { "strand": "+", "endPosition": 90143524, "chromosome": "12", "assembly": "GRCh38", "startPosition": 89708177 } ], "primaryId": "HGNC:27883", "crossReferences": [ { "id": "ENSEMBL:ENSG00000271614" }, { "id": "NCBI_Gene:338758" }, { "pages": [ "gene/references" ], "id": "RGD:7244512" }, { "pages": [ "gene" ], "id": "HGNC:27883" }, { "id": "RGD:7244512" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP2B2", "geneSynopsis": "The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase plasma membrane Ca2+ transporting 2", "basicGeneticEntity": { "synonyms": [ "ATPase, Ca++ transporting, plasma membrane 2", "DFNA82", "PMCA2", "PMCA2a", "PMCA2i", "plasma membrane Ca(2+)-ATPase", "plasma membrane Ca2+ pump 2", "plasma membrane calcium ATPase", "plasma membrane calcium pump", "plasma membrane calcium-transporting ATPase 2" ], "secondaryIds": [ "RGD:736839" ], "genomeLocations": [ { "strand": "-", "endPosition": 10708116, "chromosome": "3", "assembly": "GRCh38", "startPosition": 10324023 } ], "primaryId": "HGNC:815", "crossReferences": [ { "id": "ENSEMBL:ENSG00000157087" }, { "id": "NCBI_Gene:491" }, { "id": "PANTHER:PTHR24093" }, { "id": "UniProtKB:Q01814" }, { "pages": [ "gene/references" ], "id": "RGD:736839" }, { "pages": [ "gene" ], "id": "HGNC:815" }, { "id": "RGD:736839" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP2B2-IT1", "soTermId": "SO:0001263", "name": "ATP2B2 intronic transcript 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481035" ], "genomeLocations": [ { "strand": "-", "endPosition": 10570375, "chromosome": "3", "assembly": "GRCh38", "startPosition": 10566255 } ], "primaryId": "HGNC:41309", "crossReferences": [ { "id": "ENSEMBL:ENSG00000236999" }, { "id": "NCBI_Gene:100874324" }, { "pages": [ "gene/references" ], "id": "RGD:6481035" }, { "pages": [ "gene" ], "id": "HGNC:41309" }, { "id": "RGD:6481035" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP2B2-IT2", "geneSynopsis": "INTERACTS WITH aflatoxin B1; benzo[a]pyrene", "soTermId": "SO:0001263", "name": "ATP2B2 intronic transcript 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481038" ], "genomeLocations": [ { "strand": "-", "endPosition": 10629307, "chromosome": "3", "assembly": "GRCh38", "startPosition": 10626015 } ], "primaryId": "HGNC:41310", "crossReferences": [ { "id": "ENSEMBL:ENSG00000224771" }, { "id": "NCBI_Gene:100874325" }, { "pages": [ "gene/references" ], "id": "RGD:6481038" }, { "pages": [ "gene" ], "id": "HGNC:41310" }, { "id": "RGD:6481038" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP2B3", "geneSynopsis": "The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase plasma membrane Ca2+ transporting 3", "basicGeneticEntity": { "synonyms": [ "ATPase, Ca++ transporting, plasma membrane 3", "CFAP39", "CLA2", "OPCA", "PMCA3", "PMCA3a", "SCAX1", "cerebellar ataxia 2 (X-linked)", "cilia and flagella associated protein 39", "plasma membrane calcium ATPase", "plasma membrane calcium pump", "plasma membrane calcium-transporting ATPase 3" ], "secondaryIds": [ "RGD:731628" ], "genomeLocations": [ { "strand": "+", "endPosition": 153582939, "chromosome": "X", "assembly": "GRCh38", "startPosition": 153517637 } ], "primaryId": "HGNC:816", "crossReferences": [ { "id": "ENSEMBL:ENSG00000067842" }, { "id": "NCBI_Gene:492" }, { "id": "PANTHER:PTHR24093" }, { "id": "UniProtKB:Q16720" }, { "pages": [ "gene/references" ], "id": "RGD:731628" }, { "pages": [ "gene" ], "id": "HGNC:816" }, { "id": "RGD:731628" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP2B4", "geneSynopsis": "The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase plasma membrane Ca2+ transporting 4", "basicGeneticEntity": { "synonyms": [ "ATP2B2", "ATPase, Ca++ transporting, plasma membrane 4", "DKFZp686G08106", "DKFZp686M088", "MXRA1", "PMCA4", "PMCA4b", "PMCA4x", "matrix-remodeling-associated protein 1", "matrix-remodelling associated 1", "plasma membrane calcium ATPase", "plasma membrane calcium pump", "plasma membrane calcium-transporting ATPase 4", "sarcolemmal calcium pump" ], "secondaryIds": [ "RGD:1348952" ], "genomeLocations": [ { "strand": "+", "endPosition": 203744081, "chromosome": "1", "assembly": "GRCh38", "startPosition": 203626778 } ], "primaryId": "HGNC:817", "crossReferences": [ { "id": "ENSEMBL:ENSG00000058668" }, { "id": "NCBI_Gene:493" }, { "id": "PANTHER:PTHR24093" }, { "id": "UniProtKB:P23634" }, { "pages": [ "gene/references" ], "id": "RGD:1348952" }, { "pages": [ "gene" ], "id": "HGNC:817" }, { "id": "RGD:1348952" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP2C1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ATPase secretory pathway Ca2+ transporting 1", "basicGeneticEntity": { "synonyms": [ "ATP-dependent Ca(2+) pump PMR1", "ATP2C1A", "ATPase 2C1", "ATPase, Ca(2+)-sequestering", "ATPase, Ca++ transporting, type 2C, member 1", "BCPM", "Ca(2+)/Mn(2+)-ATPase 2C1", "HHD", "HUSSY-28", "KIAA1347", "PMR1", "SPCA1", "atpase, ca++-sequestering", "benign chronic pemphigus (Hailey-Hailey disease)", "calcium-transporting ATPase type 2C member 1", "hSPCA1", "secretory pathway Ca(2+)-transporting ATPase type 1", "secretory pathway Ca2+/Mn2+ ATPase 1" ], "secondaryIds": [ "RGD:733912" ], "genomeLocations": [ { "strand": "+", "endPosition": 131016712, "chromosome": "3", "assembly": "GRCh38", "startPosition": 130850511 } ], "primaryId": "HGNC:13211", "crossReferences": [ { "id": "ENSEMBL:ENSG00000017260" }, { "id": "NCBI_Gene:27032" }, { "id": "PANTHER:PTHR42861" }, { "id": "UniProtKB:P98194" }, { "pages": [ "gene/references" ], "id": "RGD:733912" }, { "pages": [ "gene" ], "id": "HGNC:13211" }, { "id": "RGD:733912" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP2C2", "geneSynopsis": "Enables P-type calcium transporter activity and P-type manganese transporter activity. Predicted to be involved in calcium ion transmembrane transport; intracellular calcium ion homeostasis; and manganese ion transport. Predicted to act upstream of or within mammary gland epithelium development; positive regulation of calcium ion import; and protein localization to plasma membrane. Predicted to be located in trans-Golgi network membrane. Predicted to be active in Golgi membrane; endoplasmic reticulum; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ATPase secretory pathway Ca2+ transporting 2", "basicGeneticEntity": { "synonyms": [ "ATPase 2C2", "ATPase, Ca++ transporting, type 2C, member 2", "Ca(2+)/Mn(2+)-ATPase 2C2", "DKFZp686H22230", "KIAA0703", "SPCA2", "calcium-transporting ATPase type 2C member 2", "secretory pathway Ca(2+)-ATPase 2", "secretory pathway Ca(2+)-transporting ATPase type 2", "secretory pathway calcium ATPase 2" ], "secondaryIds": [ "RGD:732511" ], "genomeLocations": [ { "strand": "+", "endPosition": 84465779, "chromosome": "16", "assembly": "GRCh38", "startPosition": 84368476 } ], "primaryId": "HGNC:29103", "crossReferences": [ { "id": "ENSEMBL:ENSG00000064270" }, { "id": "NCBI_Gene:9914" }, { "id": "PANTHER:PTHR42861" }, { "id": "UniProtKB:O75185" }, { "pages": [ "gene/references" ], "id": "RGD:732511" }, { "pages": [ "gene" ], "id": "HGNC:29103" }, { "id": "RGD:732511" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP2C2-AS1", "geneSynopsis": "INTERACTS WITH aristolochic acid A; chromium(6+); copper atom", "soTermId": "SO:0001263", "name": "ATP2C2 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:12798485" ], "genomeLocations": [ { "strand": "-", "endPosition": 84467361, "chromosome": "16", "assembly": "GRCh38", "startPosition": 84459259 } ], "primaryId": "HGNC:53167", "crossReferences": [ { "id": "ENSEMBL:ENSG00000261286" }, { "id": "NCBI_Gene:105371374" }, { "pages": [ "gene/references" ], "id": "RGD:12798485" }, { "pages": [ "gene" ], "id": "HGNC:53167" }, { "id": "RGD:12798485" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP4A", "geneSynopsis": "The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes a catalytic alpha subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase H+/K+ transporting subunit alpha", "basicGeneticEntity": { "synonyms": [ "ATP6A", "ATPase H+/K+ transporting alpha subunit", "ATPase, H+/K+ exchanging, alpha polypeptide", "ATPase, H+/K+ transporting, alpha polypeptide", "H(+)-K(+)-ATPase alpha subunit", "gastric H(+)/K(+) ATPase subunit alpha", "gastric H+/K+ ATPase alpha subunit", "gastric H,K-ATPase alpha subunit", "gastric H,K-ATPase catalytic subunit", "gastric hydrogen-potassium ATPase", "potassium-transporting ATPase alpha chain 1", "proton pump" ], "secondaryIds": [ "RGD:734000" ], "genomeLocations": [ { "strand": "-", "endPosition": 35563658, "chromosome": "19", "assembly": "GRCh38", "startPosition": 35550031 } ], "primaryId": "HGNC:819", "crossReferences": [ { "id": "ENSEMBL:ENSG00000105675" }, { "id": "NCBI_Gene:495" }, { "id": "PANTHER:PTHR43294" }, { "id": "UniProtKB:P20648" }, { "pages": [ "gene/references" ], "id": "RGD:734000" }, { "pages": [ "gene" ], "id": "HGNC:819" }, { "id": "RGD:734000" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP4B", "geneSynopsis": "The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes the beta subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase H+/K+ transporting subunit beta", "basicGeneticEntity": { "synonyms": [ "ATP6B", "ATPase H+/K+ transporting beta subunit", "ATPase, H+/K+ exchanging, beta polypeptide", "ATPase, H+/K+ transporting, beta polypeptide", "gastric H(+)/K(+) ATPase subunit beta", "gastric H+/K+ ATPase beta subunit", "gastric hydrogen-potassium ATPase, beta", "potassium-transporting ATPase beta chain", "potassium-transporting ATPase subunit beta", "proton pump beta chain" ], "secondaryIds": [ "RGD:737185" ], "genomeLocations": [ { "strand": "-", "endPosition": 113658198, "chromosome": "13", "assembly": "GRCh38", "startPosition": 113648804 } ], "primaryId": "HGNC:820", "crossReferences": [ { "id": "ENSEMBL:ENSG00000186009" }, { "id": "NCBI_Gene:496" }, { "id": "PANTHER:PTHR11523" }, { "id": "UniProtKB:P51164" }, { "pages": [ "gene/references" ], "id": "RGD:737185" }, { "pages": [ "gene" ], "id": "HGNC:820" }, { "id": "RGD:737185" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5F1A", "geneSynopsis": "This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]", "soTermId": "SO:0001217", "name": "ATP synthase F1 subunit alpha", "basicGeneticEntity": { "synonyms": [ "ATP synthase F(1) complex subunit alpha, mitochondrial", "ATP synthase alpha chain, mitochondrial", "ATP synthase subunit alpha, mitochondrial", "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle", "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle", "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2", "ATP sythase (F1-ATPase) alpha subunit", "ATP5A", "ATP5A1", "ATP5AL2", "ATPM", "COXPD22", "HEL-S-123m", "MC5DN4", "MC5DN4A", "MC5DN4B", "MOM2", "OMR", "ORM", "epididymis secretory sperm binding protein Li 123m", "hATP1", "mitochondrial ATP synthetase, oligomycin-resistant", "mitochondrial h+-atp synthase alpha subunit" ], "secondaryIds": [ "RGD:734400" ], "genomeLocations": [ { "strand": "-", "endPosition": 46104334, "chromosome": "18", "assembly": "GRCh38", "startPosition": 46080248 } ], "primaryId": "HGNC:823", "crossReferences": [ { "id": "ENSEMBL:ENSG00000152234" }, { "id": "NCBI_Gene:498" }, { "id": "PANTHER:PTHR48082" }, { "id": "UniProtKB:P25705" }, { "pages": [ "gene/references" ], "id": "RGD:734400" }, { "pages": [ "gene" ], "id": "HGNC:823" }, { "id": "RGD:734400" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5F1AP1", "geneSynopsis": "INTERACTS WITH N-methyl-4-phenylpyridinium", "soTermId": "SO:0000336", "name": "ATP synthase F1 subunit alpha pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 1", "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 5", "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 6", "ATP5A1P1", "ATP5A1P5", "ATP5A1P6", "ATP5AL1", "ATP5AP1" ], "secondaryIds": [ "RGD:1354259" ], "genomeLocations": [ { "strand": "-", "endPosition": 42412157, "chromosome": "9", "assembly": "GRCh38", "startPosition": 42410727 } ], "primaryId": "HGNC:827", "crossReferences": [ { "id": "ENSEMBL:ENSG00000234861" }, { "id": "NCBI_Gene:442416" }, { "pages": [ "gene/references" ], "id": "RGD:1354259" }, { "pages": [ "gene" ], "id": "HGNC:827" }, { "id": "RGD:1354259" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5F1AP10", "soTermId": "SO:0000336", "name": "ATP synthase F1 subunit alpha pseudogene 10", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 10", "ATP5A1P10" ], "secondaryIds": [ "RGD:3340246" ], "genomeLocations": [ { "strand": "+", "endPosition": 66722864, "chromosome": "9", "assembly": "GRCh38", "startPosition": 66721158 } ], "primaryId": "HGNC:37668", "crossReferences": [ { "id": "ENSEMBL:ENSG00000277297" }, { "id": "NCBI_Gene:100132619" }, { "pages": [ "gene/references" ], "id": "RGD:3340246" }, { "pages": [ "gene" ], "id": "HGNC:37668" }, { "id": "RGD:3340246" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5F1AP2", "soTermId": "SO:0000336", "name": "ATP synthase F1 subunit alpha pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 2", "ATP5A1P2", "ATP5AP2" ], "secondaryIds": [ "RGD:1352266" ], "genomeLocations": [ { "strand": "+", "endPosition": 155270037, "chromosome": "2", "assembly": "GRCh38", "startPosition": 155269631 } ], "primaryId": "HGNC:828", "crossReferences": [ { "id": "ENSEMBL:ENSG00000227682" }, { "id": "NCBI_Gene:504" }, { "pages": [ "gene/references" ], "id": "RGD:1352266" }, { "pages": [ "gene" ], "id": "HGNC:828" }, { "id": "RGD:1352266" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5F1AP3", "geneSynopsis": "INTERACTS WITH okadaic acid", "soTermId": "SO:0000336", "name": "ATP synthase F1 subunit alpha pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 3", "ATP5A1P3", "ATP5AP3" ], "secondaryIds": [ "RGD:1343558" ], "genomeLocations": [ { "strand": "-", "endPosition": 72006744, "chromosome": "16", "assembly": "GRCh38", "startPosition": 72004903 } ], "primaryId": "HGNC:829", "crossReferences": [ { "id": "ENSEMBL:ENSG00000263232" }, { "id": "NCBI_Gene:645443" }, { "pages": [ "gene/references" ], "id": "RGD:1343558" }, { "pages": [ "gene" ], "id": "HGNC:829" }, { "id": "RGD:1343558" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5F1AP4", "soTermId": "SO:0000336", "name": "ATP synthase F1 subunit alpha pseudogene 4", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 4", "ATP5A1P4", "ATP5AP4" ], "secondaryIds": [ "RGD:1346824" ], "genomeLocations": [ { "strand": "-", "endPosition": 62605722, "chromosome": "14", "assembly": "GRCh38", "startPosition": 62604113 } ], "primaryId": "HGNC:23563", "crossReferences": [ { "id": "ENSEMBL:ENSG00000258877" }, { "id": "NCBI_Gene:100129782" }, { "pages": [ "gene/references" ], "id": "RGD:1346824" }, { "pages": [ "gene" ], "id": "HGNC:23563" }, { "id": "RGD:1346824" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5F1AP7", "soTermId": "SO:0000336", "name": "ATP synthase F1 subunit alpha pseudogene 7", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 7", "ATP5A1P7", "ATP5A1P9" ], "secondaryIds": [ "RGD:3277921" ], "genomeLocations": [ { "strand": "+", "endPosition": 62688339, "chromosome": "9", "assembly": "GRCh38", "startPosition": 62686910 } ], "primaryId": "HGNC:37665", "crossReferences": [ { "id": "ENSEMBL:ENSG00000241571" }, { "id": "NCBI_Gene:442415" }, { "pages": [ "gene/references" ], "id": "RGD:3277921" }, { "pages": [ "gene" ], "id": "HGNC:37665" }, { "id": "RGD:3277921" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5F1AP8", "soTermId": "SO:0000336", "name": "ATP synthase F1 subunit alpha pseudogene 8", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 8", "ATP5A1P8", "ATP5A1P9" ], "secondaryIds": [ "RGD:3498034" ], "genomeLocations": [ { "strand": "-", "endPosition": 39655531, "chromosome": "9", "assembly": "GRCh38", "startPosition": 39654099 } ], "primaryId": "HGNC:37666", "crossReferences": [ { "id": "ENSEMBL:ENSG00000234720" }, { "id": "NCBI_Gene:392322" }, { "pages": [ "gene/references" ], "id": "RGD:3498034" }, { "pages": [ "gene" ], "id": "HGNC:37666" }, { "id": "RGD:3498034" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5F1B", "geneSynopsis": "This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATP synthase F1 subunit beta", "basicGeneticEntity": { "synonyms": [ "ATP synthase F(1) complex subunit beta, mitochondrial", "ATP synthase subunit beta, mitochondrial", "ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide", "ATP5B", "ATPMB", "ATPSB", "DYT38", "HEL-S-271", "HUMOP2", "MGC5231", "epididymis secretory protein Li 271", "mitochondrial ATP synthase beta subunit", "mitochondrial ATP synthetase, beta subunit" ], "secondaryIds": [ "RGD:1344847" ], "genomeLocations": [ { "strand": "-", "endPosition": 56646079, "chromosome": "12", "assembly": "GRCh38", "startPosition": 56638171 } ], "primaryId": "HGNC:830", "crossReferences": [ { "id": "ENSEMBL:ENSG00000110955" }, { "id": "NCBI_Gene:506" }, { "id": "PANTHER:PTHR15184" }, { "id": "UniProtKB:P06576" }, { "pages": [ "gene/references" ], "id": "RGD:1344847" }, { "pages": [ "gene" ], "id": "HGNC:830" }, { "id": "RGD:1344847" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5F1BP1", "soTermId": "SO:0000336", "name": "ATP synthase F1 subunit beta pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide pseudogene 1", "ATP5BL1", "ATP5BP1", "ATPMBL1", "ATPSBL1" ], "secondaryIds": [ "RGD:1346159" ], "genomeLocations": [ { "strand": "+", "endPosition": 98207898, "chromosome": "2", "assembly": "GRCh38", "startPosition": 98206130 } ], "primaryId": "HGNC:831", "crossReferences": [ { "id": "ENSEMBL:ENSG00000231635" }, { "id": "NCBI_Gene:507" }, { "pages": [ "gene/references" ], "id": "RGD:1346159" }, { "pages": [ "gene" ], "id": "HGNC:831" }, { "id": "RGD:1346159" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5F1C", "geneSynopsis": "This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATP synthase F1 subunit gamma", "basicGeneticEntity": { "synonyms": [ "ATP synthase F(1) complex subunit gamma, mitochondrial", "ATP synthase gamma chain, mitochondrial", "ATP synthase subunit gamma, mitochondrial", "ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1", "ATP5C", "ATP5C1", "ATP5CL1", "F-ATPase gamma subunit", "mitochondrial ATP synthase, gamma subunit 1" ], "secondaryIds": [ "RGD:732616" ], "genomeLocations": [ { "strand": "+", "endPosition": 7807815, "chromosome": "10", "assembly": "GRCh38", "startPosition": 7788092 } ], "primaryId": "HGNC:833", "crossReferences": [ { "id": "ENSEMBL:ENSG00000165629" }, { "id": "NCBI_Gene:509" }, { "id": "PANTHER:PTHR11693" }, { "id": "UniProtKB:P36542" }, { "pages": [ "gene/references" ], "id": "RGD:732616" }, { "pages": [ "gene" ], "id": "HGNC:833" }, { "id": "RGD:732616" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5F1CP1", "soTermId": "SO:0000336", "name": "ATP synthase F1 subunit gamma pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 pseudogene 1", "ATP5C1P1", "ATP5C2", "ATP5CL2" ], "secondaryIds": [ "RGD:1345569" ], "genomeLocations": [ { "strand": "-", "endPosition": 53992023, "chromosome": "14", "assembly": "GRCh38", "startPosition": 53990931 } ], "primaryId": "HGNC:834", "crossReferences": [ { "id": "ENSEMBL:ENSG00000224004" }, { "id": "NCBI_Gene:645560" }, { "pages": [ "gene/references" ], "id": "RGD:1345569" }, { "pages": [ "gene" ], "id": "HGNC:834" }, { "id": "RGD:1345569" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5F1D", "geneSynopsis": "This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATP synthase F1 subunit delta", "basicGeneticEntity": { "synonyms": [ "ATP synthase F(1) complex subunit delta, mitochondrial", "ATP synthase subunit delta, mitochondrial", "ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit", "ATP5D", "F-ATPase delta subunit", "MC5DN5", "mitochondrial ATP synthase complex delta-subunit precusor", "mitochondrial ATP synthase, delta subunit" ], "secondaryIds": [ "RGD:1353040" ], "genomeLocations": [ { "strand": "+", "endPosition": 1244825, "chromosome": "19", "assembly": "GRCh38", "startPosition": 1241746 } ], "primaryId": "HGNC:837", "crossReferences": [ { "id": "ENSEMBL:ENSG00000099624" }, { "id": "NCBI_Gene:513" }, { "id": "PANTHER:PTHR13822" }, { "id": "UniProtKB:P30049" }, { "pages": [ "gene/references" ], "id": "RGD:1353040" }, { "pages": [ "gene" ], "id": "HGNC:837" }, { "id": "RGD:1353040" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5F1E", "geneSynopsis": "This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.[provided by RefSeq, Mar 2011]", "soTermId": "SO:0001217", "name": "ATP synthase F1 subunit epsilon", "basicGeneticEntity": { "synonyms": [ "ATP synthase F(1) complex subunit epsilon, mitochondrial", "ATP synthase subunit epsilon, mitochondrial", "ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit", "ATP5E", "ATPE", "ATPase subunit epsilon", "F(0)F(1)-ATPase", "H(+)-transporting two-sector ATPase", "MC5DN3", "MGC104243", "mitochondrial ATP synthase epsilon chain", "mitochondrial ATPase" ], "secondaryIds": [ "RGD:1346801" ], "genomeLocations": [ { "strand": "-", "endPosition": 59032358, "chromosome": "20", "assembly": "GRCh38", "startPosition": 59025475 } ], "primaryId": "HGNC:838", "crossReferences": [ { "id": "ENSEMBL:ENSG00000124172" }, { "id": "NCBI_Gene:514" }, { "id": "PANTHER:PTHR12448" }, { "id": "UniProtKB:P56381" }, { "pages": [ "gene/references" ], "id": "RGD:1346801" }, { "pages": [ "gene" ], "id": "HGNC:838" }, { "id": "RGD:1346801" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5F1EP1", "soTermId": "SO:0000336", "name": "ATP synthase F1 subunit epsilon pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 1", "ATP5EP1" ], "secondaryIds": [ "RGD:1344555" ], "genomeLocations": [ { "strand": "+", "endPosition": 105532806, "chromosome": "4", "assembly": "GRCh38", "startPosition": 105532388 } ], "primaryId": "HGNC:839", "crossReferences": [ { "id": "ENSEMBL:ENSG00000250922" }, { "id": "NCBI_Gene:23744" }, { "pages": [ "gene/references" ], "id": "RGD:1344555" }, { "pages": [ "gene" ], "id": "HGNC:839" }, { "id": "RGD:1344555" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5F1EP2", "geneSynopsis": "Predicted to enable hydrolase activity. Predicted to contribute to proton-transporting ATP synthase activity, rotational mechanism. Predicted to be involved in proton motive force-driven mitochondrial ATP synthesis. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0000336", "name": "ATP synthase F1 subunit epsilon pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2", "ATP5EP2" ], "secondaryIds": [ "RGD:2291819" ], "genomeLocations": [ { "strand": "+", "endPosition": 27945573, "chromosome": "13", "assembly": "GRCh38", "startPosition": 27945206 } ], "primaryId": "HGNC:34026", "crossReferences": [ { "id": "ENSEMBL:ENSG00000180389" }, { "id": "NCBI_Gene:432369" }, { "id": "PANTHER:PTHR12448" }, { "id": "UniProtKB:Q5VTU8" }, { "pages": [ "gene/references" ], "id": "RGD:2291819" }, { "pages": [ "gene" ], "id": "HGNC:34026" }, { "id": "RGD:2291819" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5IF1", "geneSynopsis": "Enables several functions, including ATPase binding activity; angiostatin binding activity; and mitochondrial proton-transporting ATP synthase complex binding activity. Involved in several processes, including mitochondrial depolarization; negative regulation of endothelial cell proliferation; and positive regulation of metabolic process. Located in cell surface and mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ATP synthase inhibitory factor subunit 1", "basicGeneticEntity": { "synonyms": [ "ATP synthase F1 subunit epsilon", "ATP synthase inhibitor protein", "ATPI", "ATPIF1", "ATPIP", "ATPase inhibitor protein", "ATPase inhibitor, mitochondrial", "ATPase inhibitory factor 1", "IF(1)", "IF1", "IP", "MGC1167", "MGC8898", "inhibitor of F(1)F(o)-ATPase" ], "secondaryIds": [ "RGD:1312589" ], "genomeLocations": [ { "strand": "+", "endPosition": 28246906, "chromosome": "1", "assembly": "GRCh38", "startPosition": 28236084 } ], "primaryId": "HGNC:871", "crossReferences": [ { "id": "ENSEMBL:ENSG00000130770" }, { "id": "ENSEMBL:ENSG00000285390" }, { "id": "NCBI_Gene:93974" }, { "id": "PANTHER:PTHR48417" }, { "id": "UniProtKB:Q9UII2" }, { "pages": [ "gene/references" ], "id": "RGD:1312589" }, { "pages": [ "gene" ], "id": "HGNC:871" }, { "id": "RGD:1312589" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5IF1-AS1", "soTermId": "SO:0001263", "name": "ATP5IF1 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:625776964" ], "primaryId": "HGNC:58609", "crossReferences": [ { "id": "NCBI_Gene:142761577" }, { "pages": [ "gene/references" ], "id": "RGD:625776964" }, { "pages": [ "gene" ], "id": "HGNC:58609" }, { "id": "RGD:625776964" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MC1", "geneSynopsis": "This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATP synthase membrane subunit c locus 1", "basicGeneticEntity": { "synonyms": [ "ATP synthase F(0) complex subunit C1, mitochondrial", "ATP synthase lipid-binding protein", "ATP synthase lipid-binding protein, mitochondrial", "ATP synthase proteolipid P1", "ATP synthase proton-transporting mitochondrial F(0) complex subunit C1", "ATP synthase subunit 9", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9)", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9)", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 1", "ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9)", "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)", "ATP5A", "ATP5G", "ATP5G1", "ATPase protein 9", "ATPase subunit 9", "ATPase subunit C", "dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit", "mitochondrial ATP synthase, subunit 9", "mitochondrial ATP synthase, subunit 9, isoform 1", "mitochondrial ATP synthase, subunit C", "mitochondrial ATP synthase, subunit C, isoform 1", "proton-conducting channel, ATP synthase F(0) complex subunit c" ], "secondaryIds": [ "RGD:1348420" ], "genomeLocations": [ { "strand": "+", "endPosition": 48895875, "chromosome": "17", "assembly": "GRCh38", "startPosition": 48892765 } ], "primaryId": "HGNC:841", "crossReferences": [ { "id": "ENSEMBL:ENSG00000159199" }, { "id": "NCBI_Gene:516" }, { "id": "PANTHER:PTHR10031" }, { "id": "UniProtKB:P05496" }, { "pages": [ "gene/references" ], "id": "RGD:1348420" }, { "pages": [ "gene" ], "id": "HGNC:841" }, { "id": "RGD:1348420" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MC1P1", "soTermId": "SO:0000336", "name": "ATP synthase membrane subunit c locus 1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 1", "ATP5G1P1", "ATP5GP3" ], "secondaryIds": [ "RGD:1347596" ], "genomeLocations": [ { "strand": "-", "endPosition": 105537292, "chromosome": "14", "assembly": "GRCh38", "startPosition": 105536746 } ], "primaryId": "HGNC:19815", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230157" }, { "id": "NCBI_Gene:319136" }, { "pages": [ "gene/references" ], "id": "RGD:1347596" }, { "pages": [ "gene" ], "id": "HGNC:19815" }, { "id": "RGD:1347596" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MC1P2", "soTermId": "SO:0000336", "name": "ATP synthase membrane subunit c locus 1 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 2", "ATP5G1P2", "ATP5GP4" ], "secondaryIds": [ "RGD:1351129" ], "genomeLocations": [ { "strand": "-", "endPosition": 31320688, "chromosome": "14", "assembly": "GRCh38", "startPosition": 31320121 } ], "primaryId": "HGNC:19817", "crossReferences": [ { "id": "NCBI_Gene:319137" }, { "pages": [ "gene/references" ], "id": "RGD:1351129" }, { "pages": [ "gene" ], "id": "HGNC:19817" }, { "id": "RGD:1351129" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MC1P3", "soTermId": "SO:0000336", "name": "ATP synthase membrane subunit c locus 1 pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 3", "ATP5G1P3" ], "secondaryIds": [ "RGD:4892192" ], "genomeLocations": [ { "strand": "-", "endPosition": 138890004, "chromosome": "3", "assembly": "GRCh38", "startPosition": 138889155 } ], "primaryId": "HGNC:39506", "crossReferences": [ { "id": "ENSEMBL:ENSG00000242244" }, { "id": "NCBI_Gene:646619" }, { "pages": [ "gene/references" ], "id": "RGD:4892192" }, { "pages": [ "gene" ], "id": "HGNC:39506" }, { "id": "RGD:4892192" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MC1P4", "geneSynopsis": "INTERACTS WITH aristolochic acid A", "soTermId": "SO:0000336", "name": "ATP synthase membrane subunit c locus 1 pseudogene 4", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 4", "ATP5G1P4" ], "secondaryIds": [ "RGD:4892173" ], "genomeLocations": [ { "strand": "-", "endPosition": 172829215, "chromosome": "3", "assembly": "GRCh38", "startPosition": 172828628 } ], "primaryId": "HGNC:39507", "crossReferences": [ { "id": "ENSEMBL:ENSG00000227440" }, { "id": "NCBI_Gene:100287755" }, { "pages": [ "gene/references" ], "id": "RGD:4892173" }, { "pages": [ "gene" ], "id": "HGNC:39507" }, { "id": "RGD:4892173" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MC1P5", "geneSynopsis": "INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; 4,4'-sulfonyldiphenol; dexamethasone", "soTermId": "SO:0000336", "name": "ATP synthase membrane subunit c locus 1 pseudogene 5", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 5", "ATP5G1P5" ], "secondaryIds": [ "RGD:4892148" ], "genomeLocations": [ { "strand": "+", "endPosition": 106663947, "chromosome": "13", "assembly": "GRCh38", "startPosition": 106663392 } ], "primaryId": "HGNC:39508", "crossReferences": [ { "id": "ENSEMBL:ENSG00000227590" }, { "id": "NCBI_Gene:390424" }, { "pages": [ "gene/references" ], "id": "RGD:4892148" }, { "pages": [ "gene" ], "id": "HGNC:39508" }, { "id": "RGD:4892148" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MC1P6", "geneSynopsis": "INTERACTS WITH sodium arsenite", "soTermId": "SO:0000336", "name": "ATP synthase membrane subunit c locus 1 pseudogene 6", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 6", "ATP5G1P6" ], "secondaryIds": [ "RGD:4892171" ], "genomeLocations": [ { "strand": "+", "endPosition": 63497503, "chromosome": "18", "assembly": "GRCh38", "startPosition": 63496942 } ], "primaryId": "HGNC:39509", "crossReferences": [ { "id": "ENSEMBL:ENSG00000214318" }, { "id": "NCBI_Gene:100505704" }, { "pages": [ "gene/references" ], "id": "RGD:4892171" }, { "pages": [ "gene" ], "id": "HGNC:39509" }, { "id": "RGD:4892171" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MC1P7", "soTermId": "SO:0000336", "name": "ATP synthase membrane subunit c locus 1 pseudogene 7", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 7", "ATP5G1P7" ], "secondaryIds": [ "RGD:4892174" ], "genomeLocations": [ { "strand": "-", "endPosition": 69433413, "chromosome": "10", "assembly": "GRCh38", "startPosition": 69432866 } ], "primaryId": "HGNC:39510", "crossReferences": [ { "id": "ENSEMBL:ENSG00000232734" }, { "id": "NCBI_Gene:100130962" }, { "pages": [ "gene/references" ], "id": "RGD:4892174" }, { "pages": [ "gene" ], "id": "HGNC:39510" }, { "id": "RGD:4892174" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MC1P8", "soTermId": "SO:0000336", "name": "ATP synthase membrane subunit c locus 1 pseudogene 8", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 8", "ATP5G1P8" ], "secondaryIds": [ "RGD:4892172" ], "genomeLocations": [ { "strand": "+", "endPosition": 76836961, "chromosome": "10", "assembly": "GRCh38", "startPosition": 76836346 } ], "primaryId": "HGNC:39511", "crossReferences": [ { "id": "ENSEMBL:ENSG00000224948" }, { "id": "NCBI_Gene:100288222" }, { "pages": [ "gene/references" ], "id": "RGD:4892172" }, { "pages": [ "gene" ], "id": "HGNC:39511" }, { "id": "RGD:4892172" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MC2", "geneSynopsis": "This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). There are three separate genes which encode subunit c of the proton channel and they specify precursors with different import sequences but identical mature proteins. The protein encoded by this gene is one of three precursors of subunit c. This gene has multiple pseudogenes. [provided by RefSeq, Jan 2018]", "soTermId": "SO:0001217", "name": "ATP synthase membrane subunit c locus 2", "basicGeneticEntity": { "synonyms": [ "ATP synthase F(0) complex subunit C2, mitochondrial", "ATP synthase c subunit", "ATP synthase lipid-binding protein", "ATP synthase lipid-binding protein, mitochondrial", "ATP synthase proteolipid P2", "ATP synthase proton-transporting mitochondrial F(0) complex subunit C2", "ATP synthase subunit 9", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2", "ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9)", "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)", "ATP5A", "ATP5G2", "ATPase protein 9", "ATPase subunit C", "dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit", "mitochondrial ATP synthase, subunit C (subunit 9), isoform 2" ], "secondaryIds": [ "RGD:736098" ], "genomeLocations": [ { "strand": "-", "endPosition": 53681423, "chromosome": "12", "assembly": "GRCh38", "startPosition": 53632726 } ], "primaryId": "HGNC:842", "crossReferences": [ { "id": "ENSEMBL:ENSG00000135390" }, { "id": "NCBI_Gene:517" }, { "id": "PANTHER:PTHR10031" }, { "id": "UniProtKB:Q06055" }, { "pages": [ "gene/references" ], "id": "RGD:736098" }, { "pages": [ "gene" ], "id": "HGNC:842" }, { "id": "RGD:736098" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MC2P1", "soTermId": "SO:0000336", "name": "ATP5MC2 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ATP synthase membrane subunit c locus 2 pseudogene 1", "ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9) pseudogene 1", "ATP5G2P1", "ATP5GP1" ], "secondaryIds": [ "RGD:1354351" ], "genomeLocations": [ { "strand": "-", "endPosition": 209268283, "chromosome": "1", "assembly": "GRCh38", "startPosition": 209267650 } ], "primaryId": "HGNC:844", "crossReferences": [ { "id": "ENSEMBL:ENSG00000225712" }, { "id": "NCBI_Gene:520" }, { "pages": [ "gene/references" ], "id": "RGD:1354351" }, { "pages": [ "gene" ], "id": "HGNC:844" }, { "id": "RGD:1354351" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MC2P2", "soTermId": "SO:0000336", "name": "ATP5MC2 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ATP synthase membrane subunit c locus 2 pseudogene 2", "ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9) pseudogene 2", "ATP5G2P2", "ATP5GP2" ], "secondaryIds": [ "RGD:1344994" ], "genomeLocations": [ { "strand": "+", "endPosition": 49374534, "chromosome": "14", "assembly": "GRCh38", "startPosition": 49373912 } ], "primaryId": "HGNC:19672", "crossReferences": [ { "id": "NCBI_Gene:319119" }, { "pages": [ "gene/references" ], "id": "RGD:1344994" }, { "pages": [ "gene" ], "id": "HGNC:19672" }, { "id": "RGD:1344994" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MC2P3", "soTermId": "SO:0000336", "name": "ATP5MC2 pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ATP synthase membrane subunit c locus 2 pseudogene 3", "ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9) pseudogene 3", "ATP5G2P3" ], "secondaryIds": [ "RGD:5133592" ], "genomeLocations": [ { "strand": "+", "endPosition": 197263679, "chromosome": "2", "assembly": "GRCh38", "startPosition": 197263057 } ], "primaryId": "HGNC:42187", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230482" }, { "id": "NCBI_Gene:100507097" }, { "pages": [ "gene/references" ], "id": "RGD:5133592" }, { "pages": [ "gene" ], "id": "HGNC:42187" }, { "id": "RGD:5133592" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MC2P4", "soTermId": "SO:0000336", "name": "ATP5MC2 pseudogene 4", "basicGeneticEntity": { "synonyms": [ "ATP synthase membrane subunit c locus 2 pseudogene 4", "ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9) pseudogene 4", "ATP5G2P4" ], "secondaryIds": [ "RGD:5133627" ], "genomeLocations": [ { "strand": "-", "endPosition": 42099231, "chromosome": "X", "assembly": "GRCh38", "startPosition": 42098603 } ], "primaryId": "HGNC:42188", "crossReferences": [ { "id": "ENSEMBL:ENSG00000228847" }, { "id": "NCBI_Gene:654480" }, { "pages": [ "gene/references" ], "id": "RGD:5133627" }, { "pages": [ "gene" ], "id": "HGNC:42188" }, { "id": "RGD:5133627" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MC2P5", "soTermId": "SO:0000336", "name": "ATP5MC2 pseudogene 5", "basicGeneticEntity": { "synonyms": [ "ATP synthase membrane subunit c locus 2 pseudogene", "LOC100507083" ], "secondaryIds": [ "RGD:38625750" ], "genomeLocations": [ { "strand": "+", "endPosition": 130293910, "chromosome": "3", "assembly": "GRCh38", "startPosition": 130293279 } ], "primaryId": "HGNC:56523", "crossReferences": [ { "id": "NCBI_Gene:100507083" }, { "pages": [ "gene/references" ], "id": "RGD:38625750" }, { "pages": [ "gene" ], "id": "HGNC:56523" }, { "id": "RGD:38625750" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MC3", "geneSynopsis": "This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding different proteins have been identified. [provided by RefSeq, Jun 2010]", "soTermId": "SO:0001217", "name": "ATP synthase membrane subunit c locus 3", "basicGeneticEntity": { "synonyms": [ "ATP synthase F(0) complex subunit C3, mitochondrial", "ATP synthase lipid-binding protein", "ATP synthase lipid-binding protein, mitochondrial", "ATP synthase proteolipid P3", "ATP synthase proton-transporting mitochondrial F(0) complex subunit C3", "ATP synthase subunit 9", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C (subunit 9) isoform 3", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)", "ATP synthase, H+ transporting, mitochondrial Fo complex subunit C3 (subunit 9)", "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)", "ATP synthase, mitochondrial, C subunit-3", "ATP5G3", "ATPase protein 9", "ATPase subunit C", "DYTSPG", "MGC125738", "P3", "dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit" ], "secondaryIds": [ "RGD:734314" ], "genomeLocations": [ { "strand": "-", "endPosition": 175181764, "chromosome": "2", "assembly": "GRCh38", "startPosition": 175176258 } ], "primaryId": "HGNC:843", "crossReferences": [ { "id": "ENSEMBL:ENSG00000154518" }, { "id": "NCBI_Gene:518" }, { "id": "PANTHER:PTHR10031" }, { "id": "UniProtKB:P48201" }, { "pages": [ "gene/references" ], "id": "RGD:734314" }, { "pages": [ "gene" ], "id": "HGNC:843" }, { "id": "RGD:734314" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5ME", "geneSynopsis": "Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the e subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]", "soTermId": "SO:0001217", "name": "ATP synthase membrane subunit e", "basicGeneticEntity": { "synonyms": [ "ATP synthase F(0) complex subunit e, mitochondrial", "ATP synthase e chain, mitochondrial", "ATP synthase subunit e, mitochondrial", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit E", "ATP synthase, H+ transporting, mitochondrial Fo complex subunit E", "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E", "ATP5I", "ATP5K", "ATPase subunit e", "F1F0-ATP synthase, murine e subunit", "MGC12532" ], "secondaryIds": [ "RGD:1350783" ], "genomeLocations": [ { "strand": "-", "endPosition": 674369, "chromosome": "4", "assembly": "GRCh38", "startPosition": 672423 } ], "primaryId": "HGNC:846", "crossReferences": [ { "id": "ENSEMBL:ENSG00000169020" }, { "id": "NCBI_Gene:521" }, { "id": "PANTHER:PTHR12427" }, { "id": "UniProtKB:P56385" }, { "pages": [ "gene/references" ], "id": "RGD:1350783" }, { "pages": [ "gene" ], "id": "HGNC:846" }, { "id": "RGD:1350783" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MF", "geneSynopsis": "Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The catalytic portion of mitochondrial ATP synthase consists of five different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. Naturally occurring read-through transcription also exists between this gene and the downstream pentatricopeptide repeat domain 1 (PTCD1) gene. [provided by RefSeq, Nov 2010]", "soTermId": "SO:0001217", "name": "ATP synthase membrane subunit f", "basicGeneticEntity": { "synonyms": [ "ATP synthase F(0) complex subunit f, mitochondrial", "ATP synthase f chain, mitochondrial", "ATP synthase subunit f, mitochondrial", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2", "ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2", "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2", "ATP5J2", "ATP5JL", "F1F0-type ATPase subunit f", "F1Fo-ATP synthase complex Fo membrane domain f subunit", "F1Fo-ATPase synthase f subunit" ], "secondaryIds": [ "RGD:1345847" ], "genomeLocations": [ { "strand": "-", "endPosition": 99466199, "chromosome": "7", "assembly": "GRCh38", "startPosition": 99448475 } ], "primaryId": "HGNC:848", "crossReferences": [ { "id": "ENSEMBL:ENSG00000241468" }, { "id": "NCBI_Gene:9551" }, { "id": "PANTHER:PTHR13080" }, { "id": "UniProtKB:P56134" }, { "pages": [ "gene/references" ], "id": "RGD:1345847" }, { "pages": [ "gene" ], "id": "HGNC:848" }, { "id": "RGD:1345847" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MF-PTCD1", "geneSynopsis": "This locus represents naturally occurring read-through transcription between the ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and PTCD1 (pentatricopeptide repeat domain 1) genes on chromosome 7. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010]", "soTermId": "SO:0001217", "name": "ATP5MF-PTCD1 readthrough", "basicGeneticEntity": { "synonyms": [ "ATP5J2-PTCD1", "ATP5J2-PTCD1 fusion protein", "ATP5J2-PTCD1 read-through transcript", "ATP5J2-PTCD1 readthrough", "FLJ56092" ], "secondaryIds": [ "RGD:5013862" ], "genomeLocations": [ { "strand": "-", "endPosition": 99466197, "chromosome": "7", "assembly": "GRCh38", "startPosition": 99416739 } ], "primaryId": "HGNC:38844", "crossReferences": [ { "id": "ENSEMBL:ENSG00000248919" }, { "id": "NCBI_Gene:100526740" }, { "id": "PANTHER:PTHR24014" }, { "id": "PANTHER:PTHR13080" }, { "id": "UniProtKB:G3V325" }, { "id": "UniProtKB:B4DJ38" }, { "id": "UniProtKB:C9JJT5" }, { "pages": [ "gene/references" ], "id": "RGD:5013862" }, { "pages": [ "gene" ], "id": "HGNC:38844" }, { "id": "RGD:5013862" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MFP1", "soTermId": "SO:0000336", "name": "ATP synthase membrane subunit f pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2-like pseudogene", "ATP5J2LP" ], "secondaryIds": [ "RGD:7240984" ], "genomeLocations": [ { "strand": "-", "endPosition": 36389112, "chromosome": "21", "assembly": "GRCh38", "startPosition": 36388878 } ], "primaryId": "HGNC:849", "crossReferences": [ { "id": "ENSEMBL:ENSG00000224421" }, { "id": "NCBI_Gene:101241877" }, { "pages": [ "gene/references" ], "id": "RGD:7240984" }, { "pages": [ "gene" ], "id": "HGNC:849" }, { "id": "RGD:7240984" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MFP2", "soTermId": "SO:0000336", "name": "ATP synthase membrane subunit f pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2 pseudogene 2", "ATP5J2P2", "bA249L21.4" ], "secondaryIds": [ "RGD:1346132" ], "genomeLocations": [ { "strand": "+", "endPosition": 108907896, "chromosome": "6", "assembly": "GRCh38", "startPosition": 108907477 } ], "primaryId": "HGNC:21540", "crossReferences": [ { "id": "NCBI_Gene:387107" }, { "pages": [ "gene/references" ], "id": "RGD:1346132" }, { "pages": [ "gene" ], "id": "HGNC:21540" }, { "id": "RGD:1346132" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MFP3", "soTermId": "SO:0000336", "name": "ATP synthase membrane subunit f pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2 pseudogene 3", "ATP5J2P3", "bA159H20.5" ], "secondaryIds": [ "RGD:1343122" ], "genomeLocations": [ { "strand": "+", "endPosition": 77040807, "chromosome": "9", "assembly": "GRCh38", "startPosition": 77040390 } ], "primaryId": "HGNC:21286", "crossReferences": [ { "id": "ENSEMBL:ENSG00000232851" }, { "id": "NCBI_Gene:445573" }, { "pages": [ "gene/references" ], "id": "RGD:1343122" }, { "pages": [ "gene" ], "id": "HGNC:21286" }, { "id": "RGD:1343122" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MFP4", "soTermId": "SO:0000336", "name": "ATP synthase membrane subunit f pseudogene 4", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2 pseudogene 4", "ATP5J2P4" ], "secondaryIds": [ "RGD:1642107" ], "genomeLocations": [ { "strand": "+", "endPosition": 64491926, "chromosome": "17", "assembly": "GRCh38", "startPosition": 64491518 } ], "primaryId": "HGNC:32451", "crossReferences": [ { "id": "ENSEMBL:ENSG00000256826" }, { "id": "NCBI_Gene:654485" }, { "pages": [ "gene/references" ], "id": "RGD:1642107" }, { "pages": [ "gene" ], "id": "HGNC:32451" }, { "id": "RGD:1642107" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MFP5", "soTermId": "SO:0000336", "name": "ATP synthase membrane subunit f pseudogene 5", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2 pseudogene 5", "ATP5J2P5" ], "secondaryIds": [ "RGD:1642108" ], "genomeLocations": [ { "strand": "-", "endPosition": 6270442, "chromosome": "12", "assembly": "GRCh38", "startPosition": 6270025 } ], "primaryId": "HGNC:33611", "crossReferences": [ { "id": "ENSEMBL:ENSG00000256103" }, { "id": "NCBI_Gene:654484" }, { "pages": [ "gene/references" ], "id": "RGD:1642108" }, { "pages": [ "gene" ], "id": "HGNC:33611" }, { "id": "RGD:1642108" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MFP6", "soTermId": "SO:0000336", "name": "ATP synthase membrane subunit f pseudogene 6", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2 pseudogene 6", "ATP5J2P6" ], "secondaryIds": [ "RGD:1642106" ], "genomeLocations": [ { "strand": "-", "endPosition": 66415225, "chromosome": "15", "assembly": "GRCh38", "startPosition": 66414800 } ], "primaryId": "HGNC:33612", "crossReferences": [ { "id": "ENSEMBL:ENSG00000261102" }, { "id": "NCBI_Gene:654486" }, { "pages": [ "gene/references" ], "id": "RGD:1642106" }, { "pages": [ "gene" ], "id": "HGNC:33612" }, { "id": "RGD:1642106" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MFP7", "soTermId": "SO:0000336", "name": "ATP synthase membrane subunit f pseudogene 7", "basicGeneticEntity": { "secondaryIds": [ "RGD:401901111" ], "genomeLocations": [ { "strand": "-", "endPosition": 31808749, "chromosome": "20", "assembly": "GRCh38", "startPosition": 31808503 } ], "primaryId": "HGNC:56954", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230801" }, { "id": "NCBI_Gene:133039963" }, { "pages": [ "gene/references" ], "id": "RGD:401901111" }, { "pages": [ "gene" ], "id": "HGNC:56954" }, { "id": "RGD:401901111" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MG", "geneSynopsis": "Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the g subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]", "soTermId": "SO:0001217", "name": "ATP synthase membrane subunit g", "basicGeneticEntity": { "synonyms": [ "ATP synthase F(0) complex subunit g, mitochondrial", "ATP synthase g chain, mitochondrial", "ATP synthase subunit g, mitochondrial", "ATP synthase, H+ transporting, mitochondrial F0 complex subunit G", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G", "ATP synthase, H+ transporting, mitochondrial F0complex, subunit G", "ATP synthase, H+ transporting, mitochondrial F1F0, subunit g", "ATP synthase, H+ transporting, mitochondrial Fo complex subunit G", "ATP5JG", "ATP5L", "ATPase subunit G", "F1F0-ATP synthase complex Fo membrane domain g subunit", "F1F0-type ATP synthase subunit g", "F1Fo-ATP synthase complex Fo membrane domain g subunit" ], "secondaryIds": [ "RGD:1352647" ], "genomeLocations": [ { "strand": "+", "endPosition": 118433278, "chromosome": "11", "assembly": "GRCh38", "startPosition": 118401346 } ], "primaryId": "HGNC:14247", "crossReferences": [ { "id": "ENSEMBL:ENSG00000167283" }, { "id": "NCBI_Gene:10632" }, { "id": "PANTHER:PTHR12386" }, { "id": "UniProtKB:O75964" }, { "pages": [ "gene/references" ], "id": "RGD:1352647" }, { "pages": [ "gene" ], "id": "HGNC:14247" }, { "id": "RGD:1352647" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MGL", "geneSynopsis": "Predicted to enable proton transmembrane transporter activity. Predicted to contribute to proton-transporting ATP synthase activity, rotational mechanism. Predicted to be involved in proton motive force-driven ATP synthesis. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ATP synthase membrane subunit g like", "basicGeneticEntity": { "synonyms": [ "ATP synthase subunit g 2, mitochondrial", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2 pseudogene", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2-like", "ATP synthase, H+ transporting, mitochondrial F1F0, subunit g", "ATP synthase, H+ transporting, mitochondrial Fo complex subunit G2", "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2", "ATP5K2", "ATP5L2", "ATPase subunit g 2", "atp synthase, h+ transporting, mitochondrial f0 complex, subunit g, isoform 2", "dJ222E13.5", "putative ATP synthase subunit g 2, mitochondrial" ], "secondaryIds": [ "RGD:1344612" ], "genomeLocations": [ { "strand": "-", "endPosition": 42640601, "chromosome": "22", "assembly": "GRCh38", "startPosition": 42639803 } ], "primaryId": "HGNC:13213", "crossReferences": [ { "id": "ENSEMBL:ENSG00000249222" }, { "id": "NCBI_Gene:267020" }, { "id": "PANTHER:PTHR12386" }, { "id": "UniProtKB:Q7Z4Y8" }, { "pages": [ "gene/references" ], "id": "RGD:1344612" }, { "pages": [ "gene" ], "id": "HGNC:13213" }, { "id": "RGD:1344612" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MGP1", "soTermId": "SO:0000336", "name": "ATP synthase membrane subunit g pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit G pseudogene 1", "ATP5KP1", "ATP5LP1", "ATPE5KP1" ], "secondaryIds": [ "RGD:1350659" ], "genomeLocations": [ { "strand": "-", "endPosition": 63835044, "chromosome": "11", "assembly": "GRCh38", "startPosition": 63834592 } ], "primaryId": "HGNC:13214", "crossReferences": [ { "id": "NCBI_Gene:53411" }, { "pages": [ "gene/references" ], "id": "RGD:1350659" }, { "pages": [ "gene" ], "id": "HGNC:13214" }, { "id": "RGD:1350659" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MGP2", "soTermId": "SO:0000336", "name": "ATP synthase membrane subunit g pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit G pseudogene 2", "ATP5KP2", "ATP5LP2" ], "secondaryIds": [ "RGD:1353372" ], "genomeLocations": [ { "strand": "-", "endPosition": 122860016, "chromosome": "6", "assembly": "GRCh38", "startPosition": 122859577 } ], "primaryId": "HGNC:13215", "crossReferences": [ { "id": "ENSEMBL:ENSG00000232362" }, { "id": "NCBI_Gene:53410" }, { "pages": [ "gene/references" ], "id": "RGD:1353372" }, { "pages": [ "gene" ], "id": "HGNC:13215" }, { "id": "RGD:1353372" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MGP3", "soTermId": "SO:0000336", "name": "ATP synthase membrane subunit g pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit G pseudogene 3", "ATP5KP3", "ATP5LP3", "ATPE5KP3" ], "secondaryIds": [ "RGD:1344028" ], "genomeLocations": [ { "strand": "-", "endPosition": 24658421, "chromosome": "4", "assembly": "GRCh38", "startPosition": 24657662 } ], "primaryId": "HGNC:13216", "crossReferences": [ { "id": "ENSEMBL:ENSG00000249256" }, { "id": "NCBI_Gene:53409" }, { "pages": [ "gene/references" ], "id": "RGD:1344028" }, { "pages": [ "gene" ], "id": "HGNC:13216" }, { "id": "RGD:1344028" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MGP4", "soTermId": "SO:0000336", "name": "ATP synthase membrane subunit g pseudogene 4", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit G pseudogene 4", "ATP5LP4" ], "secondaryIds": [ "RGD:3051036" ], "genomeLocations": [ { "strand": "-", "endPosition": 148703876, "chromosome": "4", "assembly": "GRCh38", "startPosition": 148703430 } ], "primaryId": "HGNC:38165", "crossReferences": [ { "id": "ENSEMBL:ENSG00000225176" }, { "id": "NCBI_Gene:100130396" }, { "pages": [ "gene/references" ], "id": "RGD:3051036" }, { "pages": [ "gene" ], "id": "HGNC:38165" }, { "id": "RGD:3051036" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MGP5", "soTermId": "SO:0000336", "name": "ATP synthase membrane subunit g pseudogene 5", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit G pseudogene 5", "ATP5LP5" ], "secondaryIds": [ "RGD:3254930" ], "genomeLocations": [ { "strand": "-", "endPosition": 152826545, "chromosome": "3", "assembly": "GRCh38", "startPosition": 152800434 } ], "primaryId": "HGNC:38167", "crossReferences": [ { "id": "ENSEMBL:ENSG00000242561" }, { "id": "NCBI_Gene:100287091" }, { "pages": [ "gene/references" ], "id": "RGD:3254930" }, { "pages": [ "gene" ], "id": "HGNC:38167" }, { "id": "RGD:3254930" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MGP6", "soTermId": "SO:0000336", "name": "ATP synthase membrane subunit g pseudogene 6", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit G pseudogene 6", "ATP5LP6" ], "secondaryIds": [ "RGD:3051009" ], "genomeLocations": [ { "strand": "-", "endPosition": 76202796, "chromosome": "17", "assembly": "GRCh38", "startPosition": 76202526 } ], "primaryId": "HGNC:38168", "crossReferences": [ { "id": "ENSEMBL:ENSG00000267376" }, { "id": "NCBI_Gene:100462865" }, { "pages": [ "gene/references" ], "id": "RGD:3051009" }, { "pages": [ "gene" ], "id": "HGNC:38168" }, { "id": "RGD:3051009" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MGP7", "soTermId": "SO:0000336", "name": "ATP synthase membrane subunit g pseudogene 7", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit G pseudogene 7", "ATP5LP7" ], "secondaryIds": [ "RGD:3028767" ], "genomeLocations": [ { "strand": "+", "endPosition": 42648147, "chromosome": "17", "assembly": "GRCh38", "startPosition": 42647834 } ], "primaryId": "HGNC:38169", "crossReferences": [ { "id": "ENSEMBL:ENSG00000267189" }, { "id": "NCBI_Gene:100287964" }, { "pages": [ "gene/references" ], "id": "RGD:3028767" }, { "pages": [ "gene" ], "id": "HGNC:38169" }, { "id": "RGD:3028767" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MGP8", "soTermId": "SO:0000336", "name": "ATP synthase membrane subunit g pseudogene 8", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit G pseudogene 8", "ATP5LP8" ], "secondaryIds": [ "RGD:3051010" ], "genomeLocations": [ { "strand": "-", "endPosition": 28145245, "chromosome": "11", "assembly": "GRCh38", "startPosition": 28144729 } ], "primaryId": "HGNC:38170", "crossReferences": [ { "id": "NCBI_Gene:100462862" }, { "pages": [ "gene/references" ], "id": "RGD:3051010" }, { "pages": [ "gene" ], "id": "HGNC:38170" }, { "id": "RGD:3051010" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MJ", "geneSynopsis": "Predicted to be involved in proton motive force-driven ATP synthesis. Located in fibrillar center and mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ATP synthase membrane subunit j", "basicGeneticEntity": { "synonyms": [ "6.8 kDa mitochondrial proteolipid", "6.8-kDa proteolipid with N-terminal sequence Met-Leu-Gln (MLQ)", "6.8PL", "ATP synthase F(0) complex subunit j, mitochondrial", "ATP synthase membrane subunit 6.8PL", "ATP synthase subunit ATP5MJ, mitochondrial", "ATP synthase subunit ATP5MPL, mitochondrial", "ATP5MPL", "C14orf2", "MLQ", "MP68", "PLPM", "chromosome 14 open reading frame 2" ], "secondaryIds": [ "RGD:1352128" ], "genomeLocations": [ { "strand": "-", "endPosition": 103928269, "chromosome": "14", "assembly": "GRCh38", "startPosition": 103912281 } ], "primaryId": "HGNC:1188", "crossReferences": [ { "id": "ENSEMBL:ENSG00000156411" }, { "id": "NCBI_Gene:9556" }, { "id": "PANTHER:PTHR15233" }, { "id": "UniProtKB:P56378" }, { "pages": [ "gene/references" ], "id": "RGD:1352128" }, { "pages": [ "gene" ], "id": "HGNC:1188" }, { "id": "RGD:1352128" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MK", "geneSynopsis": "Predicted to be involved in proton motive force-driven ATP synthesis. Located in mitochondrion. Part of proton-transporting ATP synthase complex. Implicated in mitochondrial complex V (ATP synthase) deficiency nuclear type 6. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ATP synthase membrane subunit k", "basicGeneticEntity": { "synonyms": [ "AGP", "ATP synthase F(0) complex subunit k, mitochondrial", "ATP synthase membrane subunit DAPIT", "ATP synthase membrane subunit DAPIT, mitochondrial", "ATP synthase membrane subunit K, mitochondrial", "ATP5MD", "DAPIT", "DKFZp566D211", "Diabetes Associated Protein in Insulin-sensitive Tissues", "HCV F-transactivated protein 2", "HCVFTP2", "MC5DN6", "MGC14697", "USMG5", "bA792D24.4", "diabetes-associated protein in insulin-sensitive tissues", "up-regulated during skeletal muscle growth 5 homolog", "up-regulated during skeletal muscle growth 5 homolog (mouse)", "up-regulated during skeletal muscle growth protein 5", "upregulated during skeletal muscle growth 5", "upregulated during skeletal muscle growth 5 homolog" ], "secondaryIds": [ "RGD:1347198" ], "genomeLocations": [ { "strand": "-", "endPosition": 103396492, "chromosome": "10", "assembly": "GRCh38", "startPosition": 103388991 } ], "primaryId": "HGNC:30889", "crossReferences": [ { "id": "ENSEMBL:ENSG00000173915" }, { "id": "NCBI_Gene:84833" }, { "id": "PANTHER:PTHR34038" }, { "id": "UniProtKB:Q96IX5" }, { "pages": [ "gene/references" ], "id": "RGD:1347198" }, { "pages": [ "gene" ], "id": "HGNC:30889" }, { "id": "RGD:1347198" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5MKP1", "soTermId": "SO:0000336", "name": "ATP5MK pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ATP synthase membrane subunit DAPIT pseudogene 1", "ATP5MDP1", "USMG5 pseudogene 1", "USMG5P1" ], "secondaryIds": [ "RGD:2923065" ], "genomeLocations": [ { "strand": "+", "endPosition": 74174186, "chromosome": "X", "assembly": "GRCh38", "startPosition": 74173861 } ], "primaryId": "HGNC:31716", "crossReferences": [ { "id": "ENSEMBL:ENSG00000231549" }, { "id": "NCBI_Gene:100288307" }, { "pages": [ "gene/references" ], "id": "RGD:2923065" }, { "pages": [ "gene" ], "id": "HGNC:31716" }, { "id": "RGD:2923065" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5PB", "geneSynopsis": "This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATP synthase peripheral stalk-membrane subunit b", "basicGeneticEntity": { "synonyms": [ "ATP synthase B chain, mitochondrial", "ATP synthase F(0) complex subunit B1, mitochondrial", "ATP synthase peripheral stalk subunit b, mitochondrial", "ATP synthase proton-transporting mitochondrial F(0) complex subunit B1", "ATP synthase subunit b", "ATP synthase subunit b, mitochondrial", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1", "ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1", "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1", "ATP5F1", "ATPase subunit b", "H+-ATP synthase subunit b", "MGC24431", "PIG47", "cell proliferation-inducing protein 47" ], "secondaryIds": [ "RGD:736319" ], "genomeLocations": [ { "strand": "+", "endPosition": 111465941, "chromosome": "1", "assembly": "GRCh38", "startPosition": 111448111 } ], "primaryId": "HGNC:840", "crossReferences": [ { "id": "ENSEMBL:ENSG00000116459" }, { "id": "NCBI_Gene:515" }, { "id": "PANTHER:PTHR12733" }, { "id": "UniProtKB:P24539" }, { "pages": [ "gene/references" ], "id": "RGD:736319" }, { "pages": [ "gene" ], "id": "HGNC:840" }, { "id": "RGD:736319" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5PBP1", "soTermId": "SO:0000336", "name": "ATP synthase peripheral stalk-membrane subunit b pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1 pseudogene 1", "ATP5F1P1" ], "secondaryIds": [ "RGD:5129377" ], "genomeLocations": [ { "strand": "+", "endPosition": 51599460, "chromosome": "13", "assembly": "GRCh38", "startPosition": 51598416 } ], "primaryId": "HGNC:39742", "crossReferences": [ { "id": "ENSEMBL:ENSG00000224451" }, { "id": "NCBI_Gene:100422523" }, { "pages": [ "gene/references" ], "id": "RGD:5129377" }, { "pages": [ "gene" ], "id": "HGNC:39742" }, { "id": "RGD:5129377" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5PBP2", "soTermId": "SO:0000336", "name": "ATP synthase peripheral stalk-membrane subunit b pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1 pseudogene 2", "ATP5F1P2" ], "secondaryIds": [ "RGD:5129401" ], "genomeLocations": [ { "strand": "+", "endPosition": 94739461, "chromosome": "7", "assembly": "GRCh38", "startPosition": 94738652 } ], "primaryId": "HGNC:39743", "crossReferences": [ { "id": "ENSEMBL:ENSG00000214342" }, { "id": "NCBI_Gene:645973" }, { "pages": [ "gene/references" ], "id": "RGD:5129401" }, { "pages": [ "gene" ], "id": "HGNC:39743" }, { "id": "RGD:5129401" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5PBP3", "soTermId": "SO:0000336", "name": "ATP synthase peripheral stalk-membrane subunit b pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1 pseudogene 3", "ATP5F1P3" ], "secondaryIds": [ "RGD:5129405" ], "genomeLocations": [ { "strand": "+", "endPosition": 152750028, "chromosome": "7", "assembly": "GRCh38", "startPosition": 152748890 } ], "primaryId": "HGNC:39744", "crossReferences": [ { "id": "ENSEMBL:ENSG00000214003" }, { "id": "NCBI_Gene:644333" }, { "pages": [ "gene/references" ], "id": "RGD:5129405" }, { "pages": [ "gene" ], "id": "HGNC:39744" }, { "id": "RGD:5129405" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5PBP4", "soTermId": "SO:0000336", "name": "ATP synthase peripheral stalk-membrane subunit b pseudogene 4", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1 pseudogene 4", "ATP5F1P4" ], "secondaryIds": [ "RGD:5129378" ], "genomeLocations": [ { "strand": "+", "endPosition": 153159695, "chromosome": "2", "assembly": "GRCh38", "startPosition": 153158938 } ], "primaryId": "HGNC:39745", "crossReferences": [ { "id": "ENSEMBL:ENSG00000214025" }, { "id": "NCBI_Gene:100422514" }, { "pages": [ "gene/references" ], "id": "RGD:5129378" }, { "pages": [ "gene" ], "id": "HGNC:39745" }, { "id": "RGD:5129378" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5PBP5", "geneSynopsis": "INTERACTS WITH sodium arsenite", "soTermId": "SO:0000336", "name": "ATP synthase peripheral stalk-membrane subunit b pseudogene 5", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1 pseudogene 5", "ATP5F1P5" ], "secondaryIds": [ "RGD:5129394" ], "genomeLocations": [ { "strand": "+", "endPosition": 122961284, "chromosome": "11", "assembly": "GRCh38", "startPosition": 122960253 } ], "primaryId": "HGNC:39746", "crossReferences": [ { "id": "ENSEMBL:ENSG00000254944" }, { "id": "NCBI_Gene:100128516" }, { "pages": [ "gene/references" ], "id": "RGD:5129394" }, { "pages": [ "gene" ], "id": "HGNC:39746" }, { "id": "RGD:5129394" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5PBP6", "soTermId": "SO:0000336", "name": "ATP synthase peripheral stalk-membrane subunit b pseudogene 6", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1 pseudogene 6", "ATP5F1P6" ], "secondaryIds": [ "RGD:5129403" ], "genomeLocations": [ { "strand": "-", "endPosition": 139615249, "chromosome": "6", "assembly": "GRCh38", "startPosition": 139614254 } ], "primaryId": "HGNC:39747", "crossReferences": [ { "id": "ENSEMBL:ENSG00000219806" }, { "id": "NCBI_Gene:645440" }, { "pages": [ "gene/references" ], "id": "RGD:5129403" }, { "pages": [ "gene" ], "id": "HGNC:39747" }, { "id": "RGD:5129403" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5PBP7", "soTermId": "SO:0000336", "name": "ATP synthase peripheral stalk-membrane subunit b pseudogene 7", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1 pseudogene 7", "ATP5F1P7" ], "secondaryIds": [ "RGD:5129412" ], "genomeLocations": [ { "strand": "-", "endPosition": 75709865, "chromosome": "16", "assembly": "GRCh38", "startPosition": 75708859 } ], "primaryId": "HGNC:39748", "crossReferences": [ { "id": "ENSEMBL:ENSG00000261424" }, { "id": "NCBI_Gene:124496" }, { "pages": [ "gene/references" ], "id": "RGD:5129412" }, { "pages": [ "gene" ], "id": "HGNC:39748" }, { "id": "RGD:5129412" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5PBP8", "soTermId": "SO:0000336", "name": "ATP5PB pseudogene 8", "basicGeneticEntity": { "synonyms": [ "AC128687.1", "ATP synthase peripheral stalk-membrane subunit b pseudogene", "ATP5F1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1, pseudogene", "LOC100127892" ], "secondaryIds": [ "RGD:16565714" ], "genomeLocations": [ { "strand": "+", "endPosition": 113984655, "chromosome": "3", "assembly": "GRCh38", "startPosition": 113984021 } ], "primaryId": "HGNC:56483", "crossReferences": [ { "id": "ENSEMBL:ENSG00000270880" }, { "id": "NCBI_Gene:100127892" }, { "pages": [ "gene/references" ], "id": "RGD:16565714" }, { "pages": [ "gene" ], "id": "HGNC:56483" }, { "id": "RGD:16565714" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5PD", "geneSynopsis": "Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the d subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. In addition, three pseudogenes are located on chromosomes 9, 12 and 15. [provided by RefSeq, Jun 2010]", "soTermId": "SO:0001217", "name": "ATP synthase peripheral stalk subunit d", "basicGeneticEntity": { "synonyms": [ "APT5H", "ATP synthase D chain, mitochondrial", "ATP synthase peripheral stalk subunit d, mitochondrial", "ATP synthase subunit d, mitochondrial", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d", "ATP synthase, H+ transporting, mitochondrial F1F0, subunit d", "ATP synthase, H+ transporting, mitochondrial Fo complex subunit D", "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d", "ATP5H", "ATP5JD", "ATPQ", "ATPase subunit d", "My032 protein" ], "secondaryIds": [ "RGD:1351705" ], "genomeLocations": [ { "strand": "-", "endPosition": 75047718, "chromosome": "17", "assembly": "GRCh38", "startPosition": 75038855 } ], "primaryId": "HGNC:845", "crossReferences": [ { "id": "ENSEMBL:ENSG00000167863" }, { "id": "NCBI_Gene:10476" }, { "id": "PANTHER:PTHR12700" }, { "id": "UniProtKB:O75947" }, { "pages": [ "gene/references" ], "id": "RGD:1351705" }, { "pages": [ "gene" ], "id": "HGNC:845" }, { "id": "RGD:1351705" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5PDP1", "soTermId": "SO:0000336", "name": "ATP synthase peripheral stalk subunit d pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit D pseudogene 1", "ATP5HP1", "HsT18164" ], "secondaryIds": [ "RGD:2303321" ], "genomeLocations": [ { "strand": "-", "endPosition": 43268425, "chromosome": "15", "assembly": "GRCh38", "startPosition": 43267838 } ], "primaryId": "HGNC:31021", "crossReferences": [ { "id": "ENSEMBL:ENSG00000261679" }, { "id": "NCBI_Gene:390581" }, { "pages": [ "gene/references" ], "id": "RGD:2303321" }, { "pages": [ "gene" ], "id": "HGNC:31021" }, { "id": "RGD:2303321" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5PDP2", "soTermId": "SO:0000336", "name": "ATP synthase peripheral stalk subunit d pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit D pseudogene 2", "ATP5HP2" ], "secondaryIds": [ "RGD:7970285" ], "genomeLocations": [ { "strand": "-", "endPosition": 2900846, "chromosome": "9", "assembly": "GRCh38", "startPosition": 2900249 } ], "primaryId": "HGNC:49624", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229184" }, { "id": "NCBI_Gene:138234" }, { "pages": [ "gene/references" ], "id": "RGD:7970285" }, { "pages": [ "gene" ], "id": "HGNC:49624" }, { "id": "RGD:7970285" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5PDP3", "soTermId": "SO:0000336", "name": "ATP synthase peripheral stalk subunit d pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit D pseudogene 3", "ATP5HP3" ], "secondaryIds": [ "RGD:7925084" ], "genomeLocations": [ { "strand": "+", "endPosition": 14069480, "chromosome": "9", "assembly": "GRCh38", "startPosition": 14068878 } ], "primaryId": "HGNC:49625", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213954" }, { "id": "NCBI_Gene:138864" }, { "pages": [ "gene/references" ], "id": "RGD:7925084" }, { "pages": [ "gene" ], "id": "HGNC:49625" }, { "id": "RGD:7925084" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5PDP4", "soTermId": "SO:0000336", "name": "ATP synthase peripheral stalk subunit d pseudogene 4", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit D pseudogene 4", "ATP5HP4" ], "secondaryIds": [ "RGD:7840788" ], "genomeLocations": [ { "strand": "-", "endPosition": 68643038, "chromosome": "12", "assembly": "GRCh38", "startPosition": 68642445 } ], "primaryId": "HGNC:49626", "crossReferences": [ { "id": "ENSEMBL:ENSG00000234925" }, { "id": "NCBI_Gene:246723" }, { "pages": [ "gene/references" ], "id": "RGD:7840788" }, { "pages": [ "gene" ], "id": "HGNC:49626" }, { "id": "RGD:7840788" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5PF", "geneSynopsis": "Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo complex has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the Fo complex. The F6 subunit is required for F1 and Fo interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has 1 or more pseudogenes. [provided by RefSeq, Feb 2016]", "soTermId": "SO:0001217", "name": "ATP synthase peripheral stalk subunit F6", "basicGeneticEntity": { "synonyms": [ "ATP synthase peripheral stalk subunit F6, mitochondrial", "ATP synthase subunit h", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6", "ATP synthase, H+ transporting, mitochondrial Fo complex subunit F6", "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6", "ATP synthase-coupling factor 6, mitochondrial", "ATP5", "ATP5A", "ATP5J", "ATPM", "ATPase subunit F6", "CF6", "F6", "coupling factor 6", "mitochondrial ATP synthase, coupling factor 6", "mitochondrial ATP synthase, subunit F6", "mitochondrial ATPase coupling factor 6", "proliferation-inducing protein 36" ], "secondaryIds": [ "RGD:735304" ], "genomeLocations": [ { "strand": "-", "endPosition": 25735721, "chromosome": "21", "assembly": "GRCh38", "startPosition": 25716005 } ], "primaryId": "HGNC:847", "crossReferences": [ { "id": "ENSEMBL:ENSG00000154723" }, { "id": "NCBI_Gene:522" }, { "id": "PANTHER:PTHR12441" }, { "id": "UniProtKB:P18859" }, { "pages": [ "gene/references" ], "id": "RGD:735304" }, { "pages": [ "gene" ], "id": "HGNC:847" }, { "id": "RGD:735304" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5PFP1", "soTermId": "SO:0000336", "name": "ATP synthase peripheral stalk subunit F6 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ATP synthase, H+ transporting, mitochondrial Fo complex subunit F6 pseudogene 1", "ATP5JP1" ], "secondaryIds": [ "RGD:2902896" ], "genomeLocations": [ { "strand": "+", "endPosition": 6901467, "chromosome": "Y", "assembly": "GRCh38", "startPosition": 6900753 } ], "primaryId": "HGNC:23933", "crossReferences": [ { "id": "ENSEMBL:ENSG00000237701" }, { "id": "NCBI_Gene:359997" }, { "pages": [ "gene/references" ], "id": "RGD:2902896" }, { "pages": [ "gene" ], "id": "HGNC:23933" }, { "id": "RGD:2902896" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5PFP2", "soTermId": "SO:0000336", "name": "ATP5PF pseudogene 2", "basicGeneticEntity": { "synonyms": [ "AC245054.2", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6 (ATP5J) pseudogene", "ATP synthase-coupling factor 6, mitochondrial-like", "LOC100287966" ], "secondaryIds": [ "RGD:38600350" ], "genomeLocations": [ { "strand": "+", "endPosition": 22988589, "chromosome": "22", "assembly": "GRCh38", "startPosition": 22988263 } ], "primaryId": "HGNC:56974", "crossReferences": [ { "id": "ENSEMBL:ENSG00000237472" }, { "id": "NCBI_Gene:100287966" }, { "pages": [ "gene/references" ], "id": "RGD:38600350" }, { "pages": [ "gene" ], "id": "HGNC:56974" }, { "id": "RGD:38600350" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5PFP3", "soTermId": "SO:0000336", "name": "ATP5PF pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ATP synthase-coupling factor 6, mitochondrial-like", "LOC101928296" ], "secondaryIds": [ "RGD:38620476" ], "genomeLocations": [ { "strand": "+", "endPosition": 98633966, "chromosome": "8", "assembly": "GRCh38", "startPosition": 98628962 } ], "primaryId": "HGNC:56975", "crossReferences": [ { "id": "NCBI_Gene:101928296" }, { "pages": [ "gene/references" ], "id": "RGD:38620476" }, { "pages": [ "gene" ], "id": "HGNC:56975" }, { "id": "RGD:38620476" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5PFP4", "soTermId": "SO:0000336", "name": "ATP5PF pseudogene 4", "basicGeneticEntity": { "secondaryIds": [ "RGD:401976297" ], "genomeLocations": [ { "strand": "-", "endPosition": 73803601, "chromosome": "5", "assembly": "GRCh38", "startPosition": 73803296 } ], "primaryId": "HGNC:56976", "crossReferences": [ { "id": "ENSEMBL:ENSG00000184084" }, { "id": "NCBI_Gene:133039970" }, { "pages": [ "gene/references" ], "id": "RGD:401976297" }, { "pages": [ "gene" ], "id": "HGNC:56976" }, { "id": "RGD:401976297" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5PO", "geneSynopsis": "The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATP synthase peripheral stalk subunit OSCP", "basicGeneticEntity": { "synonyms": [ "ATP synthase peripheral stalk subunit OSCP, mitochondrial", "ATP synthase subunit O, mitochondrial", "ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit", "ATP5O", "ATPO", "HMC08D05", "MC5DN7", "OSCP", "human ATP synthase OSCP subunit", "oligomycin sensitivity conferral protein", "oligomycin sensitivity conferring protein" ], "secondaryIds": [ "RGD:1348097" ], "genomeLocations": [ { "strand": "-", "endPosition": 33915853, "chromosome": "21", "assembly": "GRCh38", "startPosition": 33901028 } ], "primaryId": "HGNC:850", "crossReferences": [ { "id": "ENSEMBL:ENSG00000241837" }, { "id": "NCBI_Gene:539" }, { "id": "PANTHER:PTHR11910" }, { "id": "UniProtKB:P48047" }, { "pages": [ "gene/references" ], "id": "RGD:1348097" }, { "pages": [ "gene" ], "id": "HGNC:850" }, { "id": "RGD:1348097" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP5POP1", "soTermId": "SO:0000336", "name": "ATP5PO pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AC007383.1", "ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (ATP5O) pseudogene" ], "secondaryIds": [ "RGD:15036896" ], "genomeLocations": [ { "strand": "-", "endPosition": 206236883, "chromosome": "2", "assembly": "GRCh38", "startPosition": 206236166 } ], "primaryId": "HGNC:54673", "crossReferences": [ { "id": "ENSEMBL:ENSG00000159186" }, { "id": "NCBI_Gene:100132849" }, { "pages": [ "gene/references" ], "id": "RGD:15036896" }, { "pages": [ "gene" ], "id": "HGNC:54673" }, { "id": "RGD:15036896" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6AP1", "geneSynopsis": "This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting accessory protein 1", "basicGeneticEntity": { "synonyms": [ "16A", "ATP6IP1", "ATP6S1", "ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1", "ATPase, H+ transporting, lysosomal accessory protein 1", "ATPase, H+ transporting, lysosomal interacting protein 1", "Ac45", "CF2", "H-ATPase subunit", "MGC129781", "V-ATPase Ac45 subunit", "V-ATPase S1 accessory protein", "V-ATPase subunit S1", "V-type proton ATPase subunit S1", "VATPS1", "X-associated protein 3", "XAP-3", "XAP3", "vacuolar ATPase subunit S1", "vacuolar proton pump subunit S1" ], "secondaryIds": [ "RGD:733467" ], "genomeLocations": [ { "strand": "+", "endPosition": 154436517, "chromosome": "X", "assembly": "GRCh38", "startPosition": 154428618 } ], "primaryId": "HGNC:868", "crossReferences": [ { "id": "ENSEMBL:ENSG00000071553" }, { "id": "NCBI_Gene:537" }, { "id": "PANTHER:PTHR12471" }, { "id": "UniProtKB:Q15904" }, { "pages": [ "gene/references" ], "id": "RGD:733467" }, { "pages": [ "gene" ], "id": "HGNC:868" }, { "id": "RGD:733467" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6AP1-DT", "geneSynopsis": "INTERACTS WITH 17beta-estradiol; aristolochic acid A; benzo[a]pyrene", "soTermId": "SO:0001263", "name": "ATP6AP1 divergent transcript", "basicGeneticEntity": { "synonyms": [ "AC244090.1", "CH17-340M24.3", "uncharacterized protein BC009467" ], "secondaryIds": [ "RGD:16550948" ], "genomeLocations": [ { "strand": "-", "endPosition": 154428549, "chromosome": "X", "assembly": "GRCh38", "startPosition": 154424377 } ], "primaryId": "HGNC:25138", "crossReferences": [ { "id": "ENSEMBL:ENSG00000197180" }, { "id": "NCBI_Gene:158960" }, { "pages": [ "gene/references" ], "id": "RGD:16550948" }, { "pages": [ "gene" ], "id": "HGNC:25138" }, { "id": "RGD:16550948" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6AP1L", "geneSynopsis": "Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0000336", "name": "ATPase H+ transporting accessory protein 1 like (pseudogene)", "basicGeneticEntity": { "synonyms": [ "ATP6AP1LP", "ATPase H+ transporting accessory protein 1 like", "ATPase, H+ transporting, lysosomal accessory protein 1-like", "MGC138396", "V-type proton ATPase subunit S1-like protein", "vacuolar proton pump subunit S1-like protein" ], "secondaryIds": [ "RGD:1603596" ], "genomeLocations": [ { "strand": "+", "endPosition": 82318806, "chromosome": "5", "assembly": "GRCh38", "startPosition": 82278650 } ], "primaryId": "HGNC:28091", "crossReferences": [ { "id": "ENSEMBL:ENSG00000205464" }, { "id": "NCBI_Gene:92270" }, { "id": "PANTHER:PTHR12471" }, { "id": "UniProtKB:Q52LC2" }, { "pages": [ "gene/references" ], "id": "RGD:1603596" }, { "pages": [ "gene" ], "id": "HGNC:28091" }, { "id": "RGD:1603596" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6AP2", "geneSynopsis": "This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH homeostasis. There are three classes of ATPases- F, P, and V. The vacuolar (V-type) ATPases have a transmembrane proton-conducting sector and an extramembrane catalytic sector. The encoded protein has been found associated with the transmembrane sector of the V-type ATPases. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting accessory protein 2", "basicGeneticEntity": { "synonyms": [ "(P)RR", "APT6M8-9", "ATP6IP2", "ATP6M8-9", "ATPase H(+)-transporting lysosomal-interacting protein 2", "ATPase, H+ transporting, lysosomal (vacuolar proton pump) membrane sector associated protein M8-9", "ATPase, H+ transporting, lysosomal accessory protein 2", "ATPase, H+ transporting, lysosomal interacting protein 2", "CDG2R", "ELDF10", "ER-localized type I transmembrane adapter", "ER-localized type I transmembrane adaptor", "HT028", "M8-9", "MGC99577", "MRXE", "MRXSH", "MSTP009", "N14F", "PRR", "RENR", "V-ATPase M8.9 subunit", "XMRE", "XPDS", "embryonic liver differentiation factor 10", "prorenin receptor", "renin receptor", "renin/prorenin receptor", "vacuolar ATP synthase membrane sector-associated protein M8-9", "vacuolar proton ATP synthase membrane sector associated protein M8-9" ], "secondaryIds": [ "RGD:1346001" ], "genomeLocations": [ { "strand": "+", "endPosition": 40606848, "chromosome": "X", "assembly": "GRCh38", "startPosition": 40579372 } ], "primaryId": "HGNC:18305", "crossReferences": [ { "id": "ENSEMBL:ENSG00000182220" }, { "id": "NCBI_Gene:10159" }, { "id": "PANTHER:PTHR13351" }, { "id": "UniProtKB:O75787" }, { "pages": [ "gene/references" ], "id": "RGD:1346001" }, { "pages": [ "gene" ], "id": "HGNC:18305" }, { "id": "RGD:1346001" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V0A1", "geneSynopsis": "This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c\", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting V0 subunit a1", "basicGeneticEntity": { "synonyms": [ "ATP6N1", "ATP6N1A", "ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)", "ATPase, H+ transporting, lysosomal V0 subunit a1", "ATPase, H+ transporting, lysosomal non-catalytic accessory protein 1 (110/116kD)", "DEE104", "DKFZp781J1951", "H(+)-transporting two-sector ATPase, 116 kDa accessory protein A1", "NEDEBA", "Stv1", "V-ATPase 116 kDa", "V-ATPase 116 kDa subunit a 1", "V-ATPase 116 kDa subunit a1", "V-ATPase subunit a1", "V-type proton ATPase 116 kDa subunit a", "V-type proton ATPase 116 kDa subunit a 1", "V-type proton ATPase 116 kDa subunit a isoform 1", "V-type proton ATPase 116 kDa subunit a1", "VPP1", "Vph1", "a1", "clathrin-coated vesicle/synaptic vesicle proton pump 116 kDa subunit", "vacuolar adenosine triphosphatase subunit Ac116", "vacuolar proton pump subunit 1", "vacuolar proton pump, subunit 1", "vacuolar proton translocating ATPase 116 kDa subunit A", "vacuolar-type H(+)-ATPase 115 kDa subunit" ], "secondaryIds": [ "RGD:1605737" ], "genomeLocations": [ { "strand": "+", "endPosition": 42522582, "chromosome": "17", "assembly": "GRCh38", "startPosition": 42458844 } ], "primaryId": "HGNC:865", "crossReferences": [ { "id": "ENSEMBL:ENSG00000033627" }, { "id": "NCBI_Gene:535" }, { "id": "PANTHER:PTHR11629" }, { "id": "UniProtKB:Q93050" }, { "pages": [ "gene/references" ], "id": "RGD:1605737" }, { "pages": [ "gene" ], "id": "HGNC:865" }, { "id": "RGD:1605737" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V0A2", "geneSynopsis": "The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting V0 subunit a2", "basicGeneticEntity": { "synonyms": [ "A2", "A2V-ATPase", "ARCL", "ARCL2A", "ATP6A2", "ATP6N1D", "ATPase, H+ transporting, lysosomal V0 subunit a2", "J6B7", "RTF", "STV1", "TJ6", "TJ6M", "TJ6S", "V-ATPase 116 kDa subunit a 2", "V-ATPase 116 kDa subunit a2", "V-ATPase subunit a2", "V-type proton ATPase 116 kDa subunit a 2", "V-type proton ATPase 116 kDa subunit a isoform 2", "V-type proton ATPase 116 kDa subunit a2", "VPH1", "WSS", "a2V", "lysosomal H(+)-transporting ATPase V0 subunit a 2", "lysosomal H(+)-transporting ATPase V0 subunit a2", "regeneration and tolerance factor", "v-ATPase 116 kDa", "v-type proton ATPase 116 kDa subunit a", "vacuolar proton translocating ATPase 116 kDa subunit a" ], "secondaryIds": [ "RGD:1320849" ], "genomeLocations": [ { "strand": "+", "endPosition": 123761755, "chromosome": "12", "assembly": "GRCh38", "startPosition": 123712342 } ], "primaryId": "HGNC:18481", "crossReferences": [ { "id": "ENSEMBL:ENSG00000185344" }, { "id": "NCBI_Gene:23545" }, { "id": "PANTHER:PTHR11629" }, { "id": "UniProtKB:Q9Y487" }, { "pages": [ "gene/references" ], "id": "RGD:1320849" }, { "pages": [ "gene" ], "id": "HGNC:18481" }, { "id": "RGD:1320849" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V0A4", "geneSynopsis": "This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting V0 subunit a4", "basicGeneticEntity": { "synonyms": [ "A4", "ATP6N1B", "ATP6N2", "ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 2 (38kD)", "ATPase, H+ transporting, lysosomal V0 subunit a4", "DRTA3", "H(+)-transporting two-sector ATPase, noncatalytic accessory protein 1B", "MGC130016", "MGC130017", "RDRTA2", "RTA1C", "RTADR", "STV1", "V-ATPase 116 kDa", "V-ATPase 116 kDa isoform a 4", "V-ATPase subunit a4", "V-type proton ATPase 116 kDa subunit a", "V-type proton ATPase 116 kDa subunit a 4", "V-type proton ATPase 116 kDa subunit a isoform 4", "VPH1", "VPP2", "vacuolar proton pump 116 kDa accessory subunit", "vacuolar proton pump, subunit 2", "vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform" ], "secondaryIds": [ "RGD:1312856" ], "genomeLocations": [ { "strand": "-", "endPosition": 138799672, "chromosome": "7", "assembly": "GRCh38", "startPosition": 138706289 } ], "primaryId": "HGNC:866", "crossReferences": [ { "id": "ENSEMBL:ENSG00000105929" }, { "id": "NCBI_Gene:50617" }, { "id": "PANTHER:PTHR11629" }, { "id": "UniProtKB:Q9HBG4" }, { "pages": [ "gene/references" ], "id": "RGD:1312856" }, { "pages": [ "gene" ], "id": "HGNC:866" }, { "id": "RGD:1312856" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V0B", "geneSynopsis": "This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting V0 subunit b", "basicGeneticEntity": { "synonyms": [ "ATP6F", "ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b", "ATPase, H+ transporting, lysosomal, 21-KD, V0 subunit C-prime, prime", "ATPase, H+ transporting, lysosomal, subunit F", "H(+)-transporting two-sector ATPase, subunit F", "HATPL", "V-ATPase 21 kDa proteolipid subunit", "V-ATPase 21 kDa proteolipid subunit c''", "V-ATPase subunit b", "V-ATPase subunit c''", "V-type proton ATPase 21 kDa proteolipid subunit", "V-type proton ATPase 21 kDa proteolipid subunit c''", "VMA16", "vacuolar ATP synthase 21 kDa proteolipid subunit", "vacuolar proton pump 21 kDa proteolipid subunit", "vacuolar proton pump 21 kDa proteolipid subunit c''", "vacuolar proton pump, 21 kDa subunit" ], "secondaryIds": [ "RGD:1317997" ], "genomeLocations": [ { "strand": "+", "endPosition": 43978295, "chromosome": "1", "assembly": "GRCh38", "startPosition": 43974487 } ], "primaryId": "HGNC:861", "crossReferences": [ { "id": "ENSEMBL:ENSG00000117410" }, { "id": "NCBI_Gene:533" }, { "id": "PANTHER:PTHR10263" }, { "id": "UniProtKB:Q99437" }, { "pages": [ "gene/references" ], "id": "RGD:1317997" }, { "pages": [ "gene" ], "id": "HGNC:861" }, { "id": "RGD:1317997" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V0C", "geneSynopsis": "This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c\", and d. This gene encodes the V0 subunit c. Alternative splicing results in transcript variants. Pseudogenes have been identified on chromosomes 6 and 17. [provided by RefSeq, Nov 2010]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting V0 subunit c", "basicGeneticEntity": { "synonyms": [ "ATP6C", "ATP6L", "ATPL", "ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c", "EPEO3", "H(+)-transporting two-sector ATPase, 16 kDa subunit", "V-ATPase 16 kDa proteolipid subunit", "V-ATPase 16 kDa proteolipid subunit c", "V-ATPase subunit c", "V-type proton ATPase 16 kDa proteolipid subunit", "V-type proton ATPase 16 kDa proteolipid subunit c", "VATL", "VPPC", "Vma3", "vacuolar ATP synthase 16 kDa proteolipid subunit", "vacuolar H+ ATPase proton channel subunit", "vacuolar proton pump 16 kDa proteolipid subunit", "vacuolar proton pump 16 kDa proteolipid subunit c", "vacuolar proton pump, 16 kDa subunit" ], "secondaryIds": [ "RGD:731892" ], "genomeLocations": [ { "strand": "+", "endPosition": 2520218, "chromosome": "16", "assembly": "GRCh38", "startPosition": 2513713 } ], "primaryId": "HGNC:855", "crossReferences": [ { "id": "ENSEMBL:ENSG00000185883" }, { "id": "NCBI_Gene:527" }, { "id": "PANTHER:PTHR10263" }, { "id": "UniProtKB:P27449" }, { "pages": [ "gene/references" ], "id": "RGD:731892" }, { "pages": [ "gene" ], "id": "HGNC:855" }, { "id": "RGD:731892" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V0CP1", "geneSynopsis": "INTERACTS WITH resveratrol", "soTermId": "SO:0000336", "name": "ATPase H+ transporting V0 subunit c pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ATCD1" ], "secondaryIds": [ "RGD:1347369" ], "genomeLocations": [ { "strand": "-", "endPosition": 4857399, "chromosome": "17", "assembly": "GRCh38", "startPosition": 4856757 } ], "primaryId": "HGNC:31323", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230201" }, { "id": "NCBI_Gene:100132978" }, { "pages": [ "gene/references" ], "id": "RGD:1347369" }, { "pages": [ "gene" ], "id": "HGNC:31323" }, { "id": "RGD:1347369" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V0CP2", "soTermId": "SO:0000336", "name": "ATPase H+ transporting V0 subunit c pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:10400786" ], "genomeLocations": [ { "strand": "+", "endPosition": 111479127, "chromosome": "3", "assembly": "GRCh38", "startPosition": 111478737 } ], "primaryId": "HGNC:40000", "crossReferences": [ { "id": "ENSEMBL:ENSG00000244142" }, { "id": "NCBI_Gene:106478961" }, { "pages": [ "gene/references" ], "id": "RGD:10400786" }, { "pages": [ "gene" ], "id": "HGNC:40000" }, { "id": "RGD:10400786" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V0CP3", "soTermId": "SO:0000336", "name": "ATPase H+ transporting V0 subunit c pseudogene 3", "basicGeneticEntity": { "secondaryIds": [ "RGD:5131597" ], "genomeLocations": [ { "strand": "+", "endPosition": 42728194, "chromosome": "6", "assembly": "GRCh38", "startPosition": 42727234 } ], "primaryId": "HGNC:40001", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213435" }, { "id": "NCBI_Gene:442211" }, { "pages": [ "gene/references" ], "id": "RGD:5131597" }, { "pages": [ "gene" ], "id": "HGNC:40001" }, { "id": "RGD:5131597" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V0CP4", "soTermId": "SO:0000336", "name": "ATPase H+ transporting V0 subunit c pseudogene 4", "basicGeneticEntity": { "secondaryIds": [ "RGD:13524982" ], "genomeLocations": [ { "strand": "-", "endPosition": 42952672, "chromosome": "1", "assembly": "GRCh38", "startPosition": 42952202 } ], "primaryId": "HGNC:40002", "crossReferences": [ { "id": "ENSEMBL:ENSG00000284138" }, { "id": "NCBI_Gene:112436690" }, { "pages": [ "gene/references" ], "id": "RGD:13524982" }, { "pages": [ "gene" ], "id": "HGNC:40002" }, { "id": "RGD:13524982" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V0D1", "geneSynopsis": "This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is known as the D subunit and is found ubiquitously. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting V0 subunit d1", "basicGeneticEntity": { "synonyms": [ "32 kDa accessory protein", "ATP6D", "ATP6DV", "ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1", "FLJ43534", "H(+)-transporting two-sector ATPase, subunit D", "P39", "V-ATPase 40 KDa accessory protein", "V-ATPase AC39 subunit", "V-ATPase subunit d 1", "V-ATPase, subunit D", "V-type proton ATPase subunit d 1", "VATX", "VMA6", "VPATPD", "atpase, h+ transporting, lysosomal 38kda, v0 subunit d isoform 1", "vacuolar proton pump subunit d 1" ], "secondaryIds": [ "RGD:1314615" ], "genomeLocations": [ { "strand": "-", "endPosition": 67481188, "chromosome": "16", "assembly": "GRCh38", "startPosition": 67438005 } ], "primaryId": "HGNC:13724", "crossReferences": [ { "id": "ENSEMBL:ENSG00000159720" }, { "id": "NCBI_Gene:9114" }, { "id": "PANTHER:PTHR11028" }, { "id": "UniProtKB:P61421" }, { "pages": [ "gene/references" ], "id": "RGD:1314615" }, { "pages": [ "gene" ], "id": "HGNC:13724" }, { "id": "RGD:1314615" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V0D1-DT", "soTermId": "SO:0001263", "name": "ATP6V0D1 divergent transcript", "basicGeneticEntity": { "synonyms": [ "AC009061.2", "LOC101927837", "novel transcript, antisense to AGRP", "uncharacterized LOC101927837" ], "secondaryIds": [ "RGD:16565359" ], "genomeLocations": [ { "strand": "+", "endPosition": 67506403, "chromosome": "16", "assembly": "GRCh38", "startPosition": 67481314 } ], "primaryId": "HGNC:55268", "crossReferences": [ { "id": "ENSEMBL:ENSG00000270049" }, { "id": "NCBI_Gene:101927837" }, { "pages": [ "gene/references" ], "id": "RGD:16565359" }, { "pages": [ "gene" ], "id": "HGNC:55268" }, { "id": "RGD:16565359" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V0D2", "geneSynopsis": "Predicted to enable proton-transporting ATPase activity, rotational mechanism. Predicted to be involved in vacuolar acidification and vacuolar transport. Located in apical plasma membrane. Part of vacuolar proton-transporting V-type ATPase complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting V0 subunit d2", "basicGeneticEntity": { "synonyms": [ "ATP6D2", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2", "FLJ38708", "V-ATPase subunit d 2", "V-type proton ATPase subunit d 2", "VMA6", "atpase, h+ transporting, lysosomal 38kda, v0 subunit d isoform 2", "vacuolar proton pump subunit d 2" ], "secondaryIds": [ "RGD:1315777" ], "genomeLocations": [ { "strand": "+", "endPosition": 86154227, "chromosome": "8", "assembly": "GRCh38", "startPosition": 85987323 } ], "primaryId": "HGNC:18266", "crossReferences": [ { "id": "ENSEMBL:ENSG00000147614" }, { "id": "NCBI_Gene:245972" }, { "id": "PANTHER:PTHR11028" }, { "id": "UniProtKB:Q8N8Y2" }, { "pages": [ "gene/references" ], "id": "RGD:1315777" }, { "pages": [ "gene" ], "id": "HGNC:18266" }, { "id": "RGD:1315777" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V0E1", "geneSynopsis": "This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c\", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting V0 subunit e1", "basicGeneticEntity": { "synonyms": [ "ATP6H", "ATP6V0E", "ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1", "H(+)-transporting two-sector ATPase, subunit H", "M9.2", "V-ATPase 9.2 kDa membrane accessory protein", "V-ATPase H subunit", "V-ATPase M9.2 subunit", "V-ATPase subunit e 1", "V-type proton ATPase subunit e 1", "Vma21", "Vma21p", "vacuolar ATP synthase subunit H", "vacuolar proton pump H subunit", "vacuolar proton pump subunit e 1", "vacuolar proton-ATPase subunit M9.2" ], "secondaryIds": [ "RGD:1350958" ], "genomeLocations": [ { "strand": "+", "endPosition": 173035445, "chromosome": "5", "assembly": "GRCh38", "startPosition": 172983771 } ], "primaryId": "HGNC:863", "crossReferences": [ { "id": "ENSEMBL:ENSG00000113732" }, { "id": "NCBI_Gene:8992" }, { "id": "PANTHER:PTHR12263" }, { "id": "UniProtKB:O15342" }, { "pages": [ "gene/references" ], "id": "RGD:1350958" }, { "pages": [ "gene" ], "id": "HGNC:863" }, { "id": "RGD:1350958" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V0E1P1", "soTermId": "SO:0000336", "name": "ATPase H+ transporting V0 subunit e1 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6480947" ], "genomeLocations": [ { "strand": "+", "endPosition": 132948718, "chromosome": "5", "assembly": "GRCh38", "startPosition": 132948493 } ], "primaryId": "HGNC:41935", "crossReferences": [ { "id": "ENSEMBL:ENSG00000225364" }, { "id": "NCBI_Gene:100874502" }, { "pages": [ "gene/references" ], "id": "RGD:6480947" }, { "pages": [ "gene" ], "id": "HGNC:41935" }, { "id": "RGD:6480947" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V0E1P2", "soTermId": "SO:0000336", "name": "ATPase H+ transporting V0 subunit e1 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:6480944" ], "genomeLocations": [ { "strand": "-", "endPosition": 41859641, "chromosome": "3", "assembly": "GRCh38", "startPosition": 41859154 } ], "primaryId": "HGNC:41936", "crossReferences": [ { "id": "ENSEMBL:ENSG00000223513" }, { "id": "NCBI_Gene:100874503" }, { "pages": [ "gene/references" ], "id": "RGD:6480944" }, { "pages": [ "gene" ], "id": "HGNC:41936" }, { "id": "RGD:6480944" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V0E1P3", "soTermId": "SO:0000336", "name": "ATPase H+ transporting V0 subunit e1 pseudogene 3", "basicGeneticEntity": { "secondaryIds": [ "RGD:5132555" ], "genomeLocations": [ { "strand": "+", "endPosition": 33602785, "chromosome": "2", "assembly": "GRCh38", "startPosition": 33601983 } ], "primaryId": "HGNC:41937", "crossReferences": [ { "id": "ENSEMBL:ENSG00000238038" }, { "id": "NCBI_Gene:100133262" }, { "pages": [ "gene/references" ], "id": "RGD:5132555" }, { "pages": [ "gene" ], "id": "HGNC:41937" }, { "id": "RGD:5132555" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V0E1P4", "soTermId": "SO:0000336", "name": "ATPase H+ transporting V0 subunit e1 pseudogene 4", "basicGeneticEntity": { "secondaryIds": [ "RGD:6480943" ], "genomeLocations": [ { "strand": "+", "endPosition": 47550753, "chromosome": "1", "assembly": "GRCh38", "startPosition": 47550196 } ], "primaryId": "HGNC:41938", "crossReferences": [ { "id": "ENSEMBL:ENSG00000227883" }, { "id": "NCBI_Gene:100874504" }, { "pages": [ "gene/references" ], "id": "RGD:6480943" }, { "pages": [ "gene" ], "id": "HGNC:41938" }, { "id": "RGD:6480943" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V0E2", "geneSynopsis": "Multisubunit vacuolar-type proton pumps, or H(+)-ATPases, acidify various intracellular compartments, such as vacuoles, clathrin-coated and synaptic vesicles, endosomes, lysosomes, and chromaffin granules. H(+)-ATPases are also found in plasma membranes of specialized cells, where they play roles in urinary acidification, bone resorption, and sperm maturation. Multiple subunits form H(+)-ATPases, with proteins of the V1 class hydrolyzing ATP for energy to transport H+, and proteins of the V0 class forming an integral membrane domain through which H+ is transported. ATP6V0E2 encodes an isoform of the H(+)-ATPase V0 e subunit, an essential proton pump component (Blake-Palmer et al., 2007 [PubMed 17350184]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting V0 subunit e2", "basicGeneticEntity": { "synonyms": [ "ATP6V0E2L", "ATPase, H+ transporting V0 subunit E isoform 2-like", "ATPase, H+ transporting V0 subunit E2-like", "ATPase, H+ transporting V0 subunit e2", "C7orf32", "H+-ATPase e2 subunit", "V-ATPase subunit e 2", "V-ATPase subunit e1", "V-type proton ATPase subunit e 2", "lysosomal 9 kDa H(+)-transporting ATPase V0 subunit e2", "vacuolar proton pump subunit e 2", "vacuolar proton-ATPase subunit" ], "secondaryIds": [ "RGD:1606137" ], "genomeLocations": [ { "strand": "+", "endPosition": 149891204, "chromosome": "7", "assembly": "GRCh38", "startPosition": 149872964 } ], "primaryId": "HGNC:21723", "crossReferences": [ { "id": "ENSEMBL:ENSG00000171130" }, { "id": "NCBI_Gene:155066" }, { "id": "PANTHER:PTHR12263" }, { "id": "UniProtKB:Q8NHE4" }, { "pages": [ "gene/references" ], "id": "RGD:1606137" }, { "pages": [ "gene" ], "id": "HGNC:21723" }, { "id": "RGD:1606137" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V0E2-AS1", "geneSynopsis": "INTERACTS WITH all-trans-retinoic acid; antirheumatic drug; aristolochic acid A", "soTermId": "SO:0001263", "name": "ATP6V0E2 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "RP4-751H13.6" ], "secondaryIds": [ "RGD:1604142" ], "genomeLocations": [ { "strand": "-", "endPosition": 149880610, "chromosome": "7", "assembly": "GRCh38", "startPosition": 149867694 } ], "primaryId": "HGNC:44180", "crossReferences": [ { "id": "ENSEMBL:ENSG00000204934" }, { "id": "NCBI_Gene:401431" }, { "pages": [ "gene/references" ], "id": "RGD:1604142" }, { "pages": [ "gene" ], "id": "HGNC:44180" }, { "id": "RGD:1604142" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1A", "geneSynopsis": "This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c\", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting V1 subunit A", "basicGeneticEntity": { "synonyms": [ "ARCL2D", "ATP6A1", "ATP6V1A1", "ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A", "ATPase, H+ transporting, lysosomal, subunit A1", "DEE93", "H(+)-transporting two-sector ATPase, subunit A", "H+-transporting ATPase chain A, vacuolar (VA68 type)", "HO68", "IECEE3", "V-ATPase 69 kDa subunit 1", "V-ATPase A subunit 1", "V-ATPase subunit A", "V-type proton ATPase (V-ATPase) catalytic subunit A", "V-type proton ATPase catalytic subunit A", "VA68", "VPP2", "Vma1", "vacuolar ATP synthase catalytic subunit A, ubiquitous isoform", "vacuolar ATPase isoform VA68", "vacuolar proton pump alpha subunit 1", "vacuolar proton pump subunit alpha", "vacuolar-type H(+)-ATPase" ], "secondaryIds": [ "RGD:1323585" ], "genomeLocations": [ { "strand": "+", "endPosition": 113812056, "chromosome": "3", "assembly": "GRCh38", "startPosition": 113746770 } ], "primaryId": "HGNC:851", "crossReferences": [ { "id": "ENSEMBL:ENSG00000114573" }, { "id": "NCBI_Gene:523" }, { "id": "PANTHER:PTHR43607" }, { "id": "UniProtKB:P38606" }, { "pages": [ "gene/references" ], "id": "RGD:1323585" }, { "pages": [ "gene" ], "id": "HGNC:851" }, { "id": "RGD:1323585" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1B1", "geneSynopsis": "This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting V1 subunit B1", "basicGeneticEntity": { "synonyms": [ "ATP6B1", "ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1", "ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (Renal tubular acidosis with deafness)", "DRTA2", "H(+)-transporting two-sector ATPase, 58kD subunit", "H+-ATPase beta 1 subunit", "MGC32642", "RTA1B", "V-ATPase B1 subunit", "V-ATPase subunit B 1", "V-type proton ATPase subunit B, kidney isoform", "VATB", "VMA2", "VPP3", "atpase, h+ transporting, lysosomal 56/58kda, v1 subunit b, isoform 1 (renal tubular acidosis with deafness)", "endomembrane proton pump 58 kDa subunit", "vacuolar proton pump 3", "vacuolar proton pump subunit B 1", "vacuolar proton pump, subunit 3" ], "secondaryIds": [ "RGD:1321627" ], "genomeLocations": [ { "strand": "+", "endPosition": 70965431, "chromosome": "2", "assembly": "GRCh38", "startPosition": 70935771 } ], "primaryId": "HGNC:853", "crossReferences": [ { "id": "ENSEMBL:ENSG00000116039" }, { "id": "NCBI_Gene:525" }, { "id": "PANTHER:PTHR43389" }, { "id": "UniProtKB:P15313" }, { "pages": [ "gene/references" ], "id": "RGD:1321627" }, { "pages": [ "gene" ], "id": "HGNC:853" }, { "id": "RGD:1321627" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1B1-AS1", "geneSynopsis": "INTERACTS WITH beta-lapachone; cadmium dichloride", "soTermId": "SO:0001263", "name": "ATP6V1B1 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:8695112" ], "genomeLocations": [ { "strand": "-", "endPosition": 70948611, "chromosome": "2", "assembly": "GRCh38", "startPosition": 70941817 } ], "primaryId": "HGNC:51118", "crossReferences": [ { "id": "ENSEMBL:ENSG00000239322" }, { "id": "NCBI_Gene:101927750" }, { "pages": [ "gene/references" ], "id": "RGD:8695112" }, { "pages": [ "gene" ], "id": "HGNC:51118" }, { "id": "RGD:8695112" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1B2", "geneSynopsis": "This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting V1 subunit B2", "basicGeneticEntity": { "synonyms": [ "ATP6B1B2", "ATP6B2", "ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2", "DOOD", "H+ transporting two-sector ATPase", "HO57", "V-ATPase B2 subunit", "V-ATPase subunit B 2", "V-type proton ATPase subunit B, brain isoform", "VATB", "VPP3", "Vma2", "ZLS2", "atpase, h+ transporting, lysosomal (vacuolar proton pump), beta 56/58 kda, isoform 2", "endomembrane proton pump 58 kDa subunit", "testicular secretory protein Li 65", "vacuolar H+-ATPase 56,000 subunit", "vacuolar proton pump subunit B 2" ], "secondaryIds": [ "RGD:732120" ], "genomeLocations": [ { "strand": "+", "endPosition": 20230399, "chromosome": "8", "assembly": "GRCh38", "startPosition": 20197381 } ], "primaryId": "HGNC:854", "crossReferences": [ { "id": "ENSEMBL:ENSG00000147416" }, { "id": "NCBI_Gene:526" }, { "id": "PANTHER:PTHR43389" }, { "id": "UniProtKB:P21281" }, { "pages": [ "gene/references" ], "id": "RGD:732120" }, { "pages": [ "gene" ], "id": "HGNC:854" }, { "id": "RGD:732120" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1C1", "geneSynopsis": "This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting V1 subunit C1", "basicGeneticEntity": { "synonyms": [ "ATP6C", "ATP6D", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1", "FLJ20057", "H(+)-transporting two-sector ATPase, subunit C", "H+ -ATPase C subunit", "H+-transporting ATPase chain C, vacuolar", "V-ATPase C subunit", "V-ATPase subunit C 1", "V-type proton ATPase subunit C 1", "VATC", "Vma5", "subunit C of vacuolar proton-ATPase V1 domain", "testicular tissue protein Li 223", "vacuolar ATP synthase subunit C", "vacuolar proton pump C subunit", "vacuolar proton pump subunit C 1", "vacuolar proton pump, 42-kD subunit", "vacuolar proton-ATPase, subunit C, VI domain" ], "secondaryIds": [ "RGD:1322350" ], "genomeLocations": [ { "strand": "+", "endPosition": 103073051, "chromosome": "8", "assembly": "GRCh38", "startPosition": 103021063 } ], "primaryId": "HGNC:856", "crossReferences": [ { "id": "ENSEMBL:ENSG00000155097" }, { "id": "NCBI_Gene:528" }, { "id": "PANTHER:PTHR10137" }, { "id": "UniProtKB:P21283" }, { "pages": [ "gene/references" ], "id": "RGD:1322350" }, { "pages": [ "gene" ], "id": "HGNC:856" }, { "id": "RGD:1322350" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1C2", "geneSynopsis": "This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting V1 subunit C2", "basicGeneticEntity": { "synonyms": [ "ATP6C2", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2", "V-ATPase C2 subunit", "V-ATPase subunit C 2", "V-type proton ATPase subunit C 2", "VMA5", "atpase, h+ transporting, lysosomal 42kda, v1 subunit c isoform 2", "vacuolar proton pump subunit C 2" ], "secondaryIds": [ "RGD:1354342" ], "genomeLocations": [ { "strand": "+", "endPosition": 10785110, "chromosome": "2", "assembly": "GRCh38", "startPosition": 10720943 } ], "primaryId": "HGNC:18264", "crossReferences": [ { "id": "ENSEMBL:ENSG00000143882" }, { "id": "NCBI_Gene:245973" }, { "id": "PANTHER:PTHR10137" }, { "id": "UniProtKB:Q8NEY4" }, { "pages": [ "gene/references" ], "id": "RGD:1354342" }, { "pages": [ "gene" ], "id": "HGNC:18264" }, { "id": "RGD:1354342" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1D", "geneSynopsis": "This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c\", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the V1 domain D subunit protein. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting V1 subunit D", "basicGeneticEntity": { "synonyms": [ "ATP6M", "ATPase, H+ transporting lysosomal, member M", "ATPase, H+ transporting, lysosomal (vacuolar proton pump)", "ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D", "H(+)-transporting two-sector ATPase, subunit M", "V-ATPase 28 kDa accessory protein", "V-ATPase D subunit", "V-ATPase subunit D", "V-type proton ATPase subunit D", "VATD", "VMA8", "vacuolar ATP synthase subunit D", "vacuolar H-ATPase subunit D", "vacuolar proton pump D subunit", "vacuolar proton pump delta polypeptide", "vacuolar proton pump subunit D", "vacuolar proton-ATPase subunit D" ], "secondaryIds": [ "RGD:1348353" ], "genomeLocations": [ { "strand": "-", "endPosition": 67360265, "chromosome": "14", "assembly": "GRCh38", "startPosition": 67294371 } ], "primaryId": "HGNC:13527", "crossReferences": [ { "id": "ENSEMBL:ENSG00000100554" }, { "id": "NCBI_Gene:51382" }, { "id": "PANTHER:PTHR11671" }, { "id": "UniProtKB:Q9Y5K8" }, { "pages": [ "gene/references" ], "id": "RGD:1348353" }, { "pages": [ "gene" ], "id": "HGNC:13527" }, { "id": "RGD:1348353" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1E1", "geneSynopsis": "This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting V1 subunit E1", "basicGeneticEntity": { "synonyms": [ "ARCL2C", "ATP6E", "ATP6E2", "ATP6V1E", "ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1", "H(+)-transporting two-sector ATPase, 31kDa subunit", "H+-transporting ATP synthase chain E, vacuolar", "P31", "V-ATPase 31 kDa subunit", "V-ATPase subunit E 1", "V-ATPase, subunit E", "V-type proton ATPase subunit E 1", "Vma4", "vacuolar proton pump subunit E 1" ], "secondaryIds": [ "RGD:1347206" ], "genomeLocations": [ { "strand": "-", "endPosition": 17630958, "chromosome": "22", "assembly": "GRCh38", "startPosition": 17592136 } ], "primaryId": "HGNC:857", "crossReferences": [ { "id": "ENSEMBL:ENSG00000131100" }, { "id": "NCBI_Gene:529" }, { "id": "PANTHER:PTHR45715" }, { "id": "UniProtKB:P36543" }, { "pages": [ "gene/references" ], "id": "RGD:1347206" }, { "pages": [ "gene" ], "id": "HGNC:857" }, { "id": "RGD:1347206" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1E1P1", "geneSynopsis": "INTERACTS WITH beta-lapachone", "soTermId": "SO:0000336", "name": "ATPase H+ transporting V1 subunit E1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ATP6EP1", "ATP6V1EP1" ], "secondaryIds": [ "RGD:1351681" ], "genomeLocations": [ { "strand": "+", "endPosition": 42904112, "chromosome": "1", "assembly": "GRCh38", "startPosition": 42903114 } ], "primaryId": "HGNC:859", "crossReferences": [ { "id": "ENSEMBL:ENSG00000225099" }, { "id": "NCBI_Gene:343515" }, { "pages": [ "gene/references" ], "id": "RGD:1351681" }, { "pages": [ "gene" ], "id": "HGNC:859" }, { "id": "RGD:1351681" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1E1P2", "soTermId": "SO:0000336", "name": "ATPase H+ transporting V1 subunit E1 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ATP6EP2", "ATP6V1EP2" ], "secondaryIds": [ "RGD:1343908" ], "genomeLocations": [ { "strand": "-", "endPosition": 26952568, "chromosome": "18", "assembly": "GRCh38", "startPosition": 26952005 } ], "primaryId": "HGNC:860", "crossReferences": [ { "id": "NCBI_Gene:100462844" }, { "pages": [ "gene/references" ], "id": "RGD:1343908" }, { "pages": [ "gene" ], "id": "HGNC:860" }, { "id": "RGD:1343908" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1E1P3", "soTermId": "SO:0000336", "name": "ATPase H+ transporting V1 subunit E1 pseudogene 3", "basicGeneticEntity": { "synonyms": [ "ATP6EL1", "ATP6V1EL1", "ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 1", "ATPase, H+ transporting, lysosomal 31kD, V1 subunit E-like 1" ], "secondaryIds": [ "RGD:1348896" ], "genomeLocations": [ { "strand": "-", "endPosition": 64338905, "chromosome": "12", "assembly": "GRCh38", "startPosition": 64337949 } ], "primaryId": "HGNC:858", "crossReferences": [ { "id": "NCBI_Gene:729435" }, { "pages": [ "gene/references" ], "id": "RGD:1348896" }, { "pages": [ "gene" ], "id": "HGNC:858" }, { "id": "RGD:1348896" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1E2", "geneSynopsis": "Predicted to enable proton-transporting ATPase activity, rotational mechanism. Predicted to be involved in regulation of macroautophagy. Predicted to act upstream of or within proton transmembrane transport. Predicted to be located in cytosol. Predicted to be part of proton-transporting two-sector ATPase complex, catalytic domain. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting V1 subunit E2", "basicGeneticEntity": { "synonyms": [ "ATP6E1", "ATP6EL2", "ATP6V1EL2", "ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2", "MGC9341", "V-ATPase subunit E 2", "V-type proton ATPase subunit E 2", "VMA4", "atpase, h+ transporting, lysosomal 31kda, v1 subunit e isoform 2", "testis secretory sperm-binding protein Li 235P", "vacuolar proton pump subunit E 2", "vacuolar-type proton-translocating ATPase subunit E1" ], "secondaryIds": [ "RGD:1323263" ], "genomeLocations": [ { "strand": "-", "endPosition": 46543287, "chromosome": "2", "assembly": "GRCh38", "startPosition": 46490750 } ], "primaryId": "HGNC:18125", "crossReferences": [ { "id": "ENSEMBL:ENSG00000250565" }, { "id": "NCBI_Gene:90423" }, { "id": "PANTHER:PTHR45715" }, { "id": "UniProtKB:Q96A05" }, { "pages": [ "gene/references" ], "id": "RGD:1323263" }, { "pages": [ "gene" ], "id": "HGNC:18125" }, { "id": "RGD:1323263" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1F", "geneSynopsis": "This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c\", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is the V1 domain F subunit protein. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting V1 subunit F", "basicGeneticEntity": { "synonyms": [ "ATP6S14", "ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F", "ATPase, vacuolar, 14 kD", "H(+)-transporting two-sector ATPase, 14kD subunit", "MGC117321", "MGC126037", "MGC126038", "V-ATPase 14 kDa subunit", "V-ATPase F subunit", "V-ATPase subunit F", "V-type proton ATPase subunit F", "VATF", "Vma7", "adenosinetriphosphatase 14k chain", "vacuolar ATP synthase subunit F", "vacuolar proton pump F subunit", "vacuolar proton pump subunit F" ], "secondaryIds": [ "RGD:1351850" ], "genomeLocations": [ { "strand": "+", "endPosition": 128865847, "chromosome": "7", "assembly": "GRCh38", "startPosition": 128862856 } ], "primaryId": "HGNC:16832", "crossReferences": [ { "id": "ENSEMBL:ENSG00000128524" }, { "id": "NCBI_Gene:9296" }, { "id": "PANTHER:PTHR13861" }, { "id": "UniProtKB:Q16864" }, { "pages": [ "gene/references" ], "id": "RGD:1351850" }, { "pages": [ "gene" ], "id": "HGNC:16832" }, { "id": "RGD:1351850" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1FP1", "soTermId": "SO:0000336", "name": "ATP6V1F pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AL451165.1", "ATPase, H+ transporting, lysosomal (vacuolar proton pump) 14kD (ATP6S14) pseudogene", "LOC112267975", "V-type proton ATPase subunit F pseudogene", "V-type proton ATPase subunit F-like" ], "secondaryIds": [ "RGD:38614392" ], "genomeLocations": [ { "strand": "+", "endPosition": 34715940, "chromosome": "6", "assembly": "GRCh38", "startPosition": 34704615 } ], "primaryId": "HGNC:56922", "crossReferences": [ { "id": "ENSEMBL:ENSG00000186328" }, { "id": "NCBI_Gene:112267975" }, { "pages": [ "gene/references" ], "id": "RGD:38614392" }, { "pages": [ "gene" ], "id": "HGNC:56922" }, { "id": "RGD:38614392" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1G1", "geneSynopsis": "This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of three V1 domain G subunit proteins. Pseudogenes of this gene have been characterized. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting V1 subunit G1", "basicGeneticEntity": { "synonyms": [ "ATP6G", "ATP6G1", "ATP6GL", "ATP6J", "ATPase, H+ transporting, lysosomal (vacuolar proton pump), member J", "ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1", "DKFZp547P234", "V-ATPase 13 kDa subunit 1", "V-ATPase subunit G 1", "V-type proton ATPase subunit G 1", "Vma10", "atpase, h+ transporting, lysosomal 13kda, v1 subunit g isoform 1", "vacuolar ATP synthase subunit M16", "vacuolar H(+)-ATPase subunit G 1", "vacuolar proton pump subunit G 1", "vacuolar proton pump subunit M16" ], "secondaryIds": [ "RGD:1320793" ], "genomeLocations": [ { "strand": "+", "endPosition": 114598915, "chromosome": "9", "assembly": "GRCh38", "startPosition": 114587706 } ], "primaryId": "HGNC:864", "crossReferences": [ { "id": "ENSEMBL:ENSG00000136888" }, { "id": "NCBI_Gene:9550" }, { "id": "PANTHER:PTHR12713" }, { "id": "UniProtKB:O75348" }, { "pages": [ "gene/references" ], "id": "RGD:1320793" }, { "pages": [ "gene" ], "id": "HGNC:864" }, { "id": "RGD:1320793" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1G1P1", "soTermId": "SO:0000336", "name": "ATPase H+ transporting V1 subunit G1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "ATP6V1GP1" ], "secondaryIds": [ "RGD:1348011" ], "genomeLocations": [ { "strand": "-", "endPosition": 105785972, "chromosome": "14", "assembly": "GRCh38", "startPosition": 105784496 } ], "primaryId": "HGNC:19816", "crossReferences": [ { "id": "NCBI_Gene:319116" }, { "pages": [ "gene/references" ], "id": "RGD:1348011" }, { "pages": [ "gene" ], "id": "HGNC:19816" }, { "id": "RGD:1348011" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1G1P2", "soTermId": "SO:0000336", "name": "ATPase H+ transporting V1 subunit G1 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "ATP6V1GP2" ], "secondaryIds": [ "RGD:1605148" ], "genomeLocations": [ { "strand": "-", "endPosition": 47194349, "chromosome": "8", "assembly": "GRCh38", "startPosition": 47194002 } ], "primaryId": "HGNC:29359", "crossReferences": [ { "id": "ENSEMBL:ENSG00000253502" }, { "id": "NCBI_Gene:100128541" }, { "pages": [ "gene/references" ], "id": "RGD:1605148" }, { "pages": [ "gene" ], "id": "HGNC:29359" }, { "id": "RGD:1605148" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1G1P3", "geneSynopsis": "INTERACTS WITH cadmium dichloride", "soTermId": "SO:0000336", "name": "ATPase H+ transporting V1 subunit G1 pseudogene 3", "basicGeneticEntity": { "secondaryIds": [ "RGD:3051015" ], "genomeLocations": [ { "strand": "+", "endPosition": 136780308, "chromosome": "9", "assembly": "GRCh38", "startPosition": 136779939 } ], "primaryId": "HGNC:37670", "crossReferences": [ { "id": "ENSEMBL:ENSG00000224662" }, { "id": "NCBI_Gene:100462838" }, { "pages": [ "gene/references" ], "id": "RGD:3051015" }, { "pages": [ "gene" ], "id": "HGNC:37670" }, { "id": "RGD:3051015" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1G1P4", "soTermId": "SO:0000336", "name": "ATPase H+ transporting V1 subunit G1 pseudogene 4", "basicGeneticEntity": { "secondaryIds": [ "RGD:3051013" ], "genomeLocations": [ { "strand": "+", "endPosition": 35158640, "chromosome": "10", "assembly": "GRCh38", "startPosition": 35158306 } ], "primaryId": "HGNC:37671", "crossReferences": [ { "id": "ENSEMBL:ENSG00000233343" }, { "id": "NCBI_Gene:100462843" }, { "pages": [ "gene/references" ], "id": "RGD:3051013" }, { "pages": [ "gene" ], "id": "HGNC:37671" }, { "id": "RGD:3051013" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1G1P5", "soTermId": "SO:0000336", "name": "ATPase H+ transporting V1 subunit G1 pseudogene 5", "basicGeneticEntity": { "synonyms": [ "AC008385.1", "ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 (ATP6V1G1) pseudogene" ], "secondaryIds": [ "RGD:3051014" ], "genomeLocations": [ { "strand": "+", "endPosition": 151319778, "chromosome": "5", "assembly": "GRCh38", "startPosition": 151319422 } ], "primaryId": "HGNC:37672", "crossReferences": [ { "id": "ENSEMBL:ENSG00000270904" }, { "id": "NCBI_Gene:100462840" }, { "pages": [ "gene/references" ], "id": "RGD:3051014" }, { "pages": [ "gene" ], "id": "HGNC:37672" }, { "id": "RGD:3051014" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1G1P6", "soTermId": "SO:0000336", "name": "ATPase H+ transporting V1 subunit G1 pseudogene 6", "basicGeneticEntity": { "secondaryIds": [ "RGD:3077590" ], "genomeLocations": [ { "strand": "+", "endPosition": 78222623, "chromosome": "5", "assembly": "GRCh38", "startPosition": 78222184 } ], "primaryId": "HGNC:37673", "crossReferences": [ { "id": "ENSEMBL:ENSG00000249372" }, { "id": "NCBI_Gene:100462732" }, { "pages": [ "gene/references" ], "id": "RGD:3077590" }, { "pages": [ "gene" ], "id": "HGNC:37673" }, { "id": "RGD:3077590" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1G1P7", "soTermId": "SO:0000336", "name": "ATPase H+ transporting V1 subunit G1 pseudogene 7", "basicGeneticEntity": { "secondaryIds": [ "RGD:6480950" ], "genomeLocations": [ { "strand": "-", "endPosition": 103445568, "chromosome": "13", "assembly": "GRCh38", "startPosition": 103444020 } ], "primaryId": "HGNC:39852", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230474" }, { "id": "NCBI_Gene:100874514" }, { "pages": [ "gene/references" ], "id": "RGD:6480950" }, { "pages": [ "gene" ], "id": "HGNC:39852" }, { "id": "RGD:6480950" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1G2", "geneSynopsis": "This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. Read-through transcription also exists between this gene and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B) gene. [provided by RefSeq, Feb 2011]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting V1 subunit G2", "basicGeneticEntity": { "synonyms": [ "ATP6G", "ATP6G2", "ATPase, H+ transporting, lysosomal (vacuolar proton pump)", "ATPase, H+ transporting, lysosomal (vacuolar proton pump) subunit G", "ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2", "H(+)-transporting two-sector ATPase, subunit G2", "NG38", "V-ATPase 13 kDa subunit 2", "V-ATPase G subunit 2", "V-ATPase subunit G 2", "V-type proton ATPase subunit G 2", "VMA10", "atpase, h+ transporting, lysosomal 13kda, v1 subunit g isoform 2", "vacuolar ATP synthase subunit G 2", "vacuolar proton pump G subunit 2", "vacuolar proton pump subunit G 2" ], "secondaryIds": [ "RGD:1347481" ], "genomeLocations": [ { "strand": "-", "endPosition": 31548427, "chromosome": "6", "assembly": "GRCh38", "startPosition": 31544444 } ], "primaryId": "HGNC:862", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230900" }, { "id": "ENSEMBL:ENSG00000206445" }, { "id": "ENSEMBL:ENSG00000213760" }, { "id": "ENSEMBL:ENSG00000234920" }, { "id": "ENSEMBL:ENSG00000234668" }, { "id": "ENSEMBL:ENSG00000227587" }, { "id": "ENSEMBL:ENSG00000226850" }, { "id": "NCBI_Gene:534" }, { "id": "PANTHER:PTHR12713" }, { "id": "UniProtKB:O95670" }, { "pages": [ "gene/references" ], "id": "RGD:1347481" }, { "pages": [ "gene" ], "id": "HGNC:862" }, { "id": "RGD:1347481" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1G2-DDX39B", "geneSynopsis": "This locus represents naturally occurring read-through transcription between the neighboring ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) and DDX39B (DEAD box polypeptide 39B) genes located in the major histocompatibility complex class III region of chromosome 6. The read-through transcript and is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011]", "soTermId": "SO:0001263", "name": "ATP6V1G2-DDX39B readthrough (NMD candidate)", "basicGeneticEntity": { "secondaryIds": [ "RGD:5133074" ], "genomeLocations": [ { "strand": "-", "endPosition": 31546848, "chromosome": "6", "assembly": "GRCh38", "startPosition": 31530219 } ], "primaryId": "HGNC:41999", "crossReferences": [ { "id": "ENSEMBL:ENSG00000254899" }, { "id": "ENSEMBL:ENSG00000254870" }, { "id": "NCBI_Gene:100532737" }, { "id": "PANTHER:PTHR12713" }, { "id": "UniProtKB:F2Z307" }, { "pages": [ "gene/references" ], "id": "RGD:5133074" }, { "pages": [ "gene" ], "id": "HGNC:41999" }, { "id": "RGD:5133074" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1G3", "geneSynopsis": "This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'' and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three G subunit proteins. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting V1 subunit G3", "basicGeneticEntity": { "synonyms": [ "ATP6G3", "ATPase, H+ transporting, lysosomal (vacuolar proton pump) subunit G3", "ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3", "MGC119810", "MGC119813", "V-ATPase 13 kDa subunit 3", "V-ATPase G subunit 3", "V-ATPase G3 subunit", "V-ATPase subunit G 3", "V-type proton ATPase subunit G 3", "Vma10", "vacuolar ATP synthase subunit G 3", "vacuolar proton pump G subunit 3", "vacuolar proton pump subunit G 3", "vacuolar proton pump, subunit G3" ], "secondaryIds": [ "RGD:1312186" ], "genomeLocations": [ { "strand": "-", "endPosition": 198540945, "chromosome": "1", "assembly": "GRCh38", "startPosition": 198523222 } ], "primaryId": "HGNC:18265", "crossReferences": [ { "id": "ENSEMBL:ENSG00000151418" }, { "id": "ENSEMBL:ENSG00000263014" }, { "id": "NCBI_Gene:127124" }, { "id": "PANTHER:PTHR12713" }, { "id": "UniProtKB:Q96LB4" }, { "pages": [ "gene/references" ], "id": "RGD:1312186" }, { "pages": [ "gene" ], "id": "HGNC:18265" }, { "id": "RGD:1312186" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP6V1H", "geneSynopsis": "This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]", "soTermId": "SO:0001217", "name": "ATPase H+ transporting V1 subunit H", "basicGeneticEntity": { "synonyms": [ "ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H", "CGI-11", "MSTP042", "NBP1", "SFD", "SFDalpha", "SFDbeta", "V-ATPase 50/57 kDa subunits", "V-ATPase H subunit", "V-ATPase subunit H", "V-type proton ATPase subunit H", "VMA13", "nef-binding protein 1", "protein VMA13 homolog", "vacuolar ATP synthase subunit H", "vacuolar ATPase subunit H", "vacuolar proton pump H subunit", "vacuolar proton pump subunit H", "vacuolar proton pump subunit SFD" ], "secondaryIds": [ "RGD:1320995" ], "genomeLocations": [ { "strand": "-", "endPosition": 53843558, "chromosome": "8", "assembly": "GRCh38", "startPosition": 53715543 } ], "primaryId": "HGNC:18303", "crossReferences": [ { "id": "ENSEMBL:ENSG00000047249" }, { "id": "NCBI_Gene:51606" }, { "id": "PANTHER:PTHR10698" }, { "id": "UniProtKB:Q9UI12" }, { "pages": [ "gene/references" ], "id": "RGD:1320995" }, { "pages": [ "gene" ], "id": "HGNC:18303" }, { "id": "RGD:1320995" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP7A", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ATPase copper transporting alpha", "basicGeneticEntity": { "synonyms": [ "ATPase, Cu++ transporting, alpha polypeptide", "ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome)", "Cu++-transporting P-type ATPase", "DSMAX", "FLJ17790", "HMNX", "MK", "MNK", "Menkes disease-associated protein", "SMAX3", "copper pump 1", "copper-transporting ATPase 1" ], "secondaryIds": [ "RGD:10216" ], "genomeLocations": [ { "strand": "+", "endPosition": 78050395, "chromosome": "X", "assembly": "GRCh38", "startPosition": 77910690 } ], "primaryId": "HGNC:869", "crossReferences": [ { "id": "ENSEMBL:ENSG00000165240" }, { "id": "NCBI_Gene:538" }, { "id": "PANTHER:PTHR46594" }, { "id": "UniProtKB:Q04656" }, { "pages": [ "gene/references" ], "id": "RGD:10216" }, { "pages": [ "gene" ], "id": "HGNC:869" }, { "id": "RGD:10216" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP7B", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ATPase copper transporting beta", "basicGeneticEntity": { "synonyms": [ "ATPase, Cu(2+)- transporting, beta polypeptide", "ATPase, Cu++ transporting, beta polypeptide", "PWD", "WC1", "WD", "WND", "Wilson disease-associated protein", "copper pump 2", "copper-transporting ATPase 2", "copper-transporting protein ATP7B" ], "secondaryIds": [ "RGD:731392" ], "genomeLocations": [ { "strand": "-", "endPosition": 52012166, "chromosome": "13", "assembly": "GRCh38", "startPosition": 51930436 } ], "primaryId": "HGNC:870", "crossReferences": [ { "id": "ENSEMBL:ENSG00000123191" }, { "id": "NCBI_Gene:540" }, { "id": "PANTHER:PTHR46594" }, { "id": "UniProtKB:P35670" }, { "pages": [ "gene/references" ], "id": "RGD:731392" }, { "pages": [ "gene" ], "id": "HGNC:870" }, { "id": "RGD:731392" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP7BP1", "soTermId": "SO:0000336", "name": "ATPase copper transporting beta pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AC099849.1", "ATPase, Cu++ transporting, beta polypeptide, pseudogene" ], "secondaryIds": [ "RGD:3051021" ], "genomeLocations": [ { "strand": "-", "endPosition": 22419300, "chromosome": "18", "assembly": "GRCh38", "startPosition": 22418829 } ], "primaryId": "HGNC:31014", "crossReferences": [ { "id": "ENSEMBL:ENSG00000270855" }, { "id": "NCBI_Gene:100462825" }, { "pages": [ "gene/references" ], "id": "RGD:3051021" }, { "pages": [ "gene" ], "id": "HGNC:31014" }, { "id": "RGD:3051021" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP8A1", "geneSynopsis": "The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase phospholipid transporting 8A1", "basicGeneticEntity": { "synonyms": [ "ATPASEII", "ATPIA", "ATPP2", "ATPase II", "ATPase class I type 8A member 1", "ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1", "MGC130042", "MGC130043", "MGC26327", "P4-ATPase flippase complex alpha subunit ATP8A1", "aminophospholipid translocase", "chromaffin granule ATPase II", "phospholipid-transporting ATPase IA", "probable phospholipid-transporting ATPase IA" ], "secondaryIds": [ "RGD:1320053" ], "genomeLocations": [ { "strand": "-", "endPosition": 42657121, "chromosome": "4", "assembly": "GRCh38", "startPosition": 42408373 } ], "primaryId": "HGNC:13531", "crossReferences": [ { "id": "ENSEMBL:ENSG00000124406" }, { "id": "NCBI_Gene:10396" }, { "id": "PANTHER:PTHR24092" }, { "id": "UniProtKB:Q9Y2Q0" }, { "pages": [ "gene/references" ], "id": "RGD:1320053" }, { "pages": [ "gene" ], "id": "HGNC:13531" }, { "id": "RGD:1320053" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP8A1-DT", "soTermId": "SO:0001263", "name": "ATP8A1 divergent transcript", "basicGeneticEntity": { "secondaryIds": [ "RGD:40903023" ], "genomeLocations": [ { "strand": "+", "endPosition": 42689620, "chromosome": "4", "assembly": "GRCh38", "startPosition": 42656320 } ], "primaryId": "HGNC:55392", "crossReferences": [ { "id": "ENSEMBL:ENSG00000260519" }, { "id": "NCBI_Gene:119863863" }, { "pages": [ "gene/references" ], "id": "RGD:40903023" }, { "pages": [ "gene" ], "id": "HGNC:55392" }, { "id": "RGD:40903023" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP8A2", "geneSynopsis": "The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with a syndrome (CAMRQ4) characterized by cerebellar ataxia and cognitive disabilities. In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]", "soTermId": "SO:0001217", "name": "ATPase phospholipid transporting 8A2", "basicGeneticEntity": { "synonyms": [ "ATP", "ATPIB", "ATPase class I type 8A member 2", "ATPase, aminophospholipid transporter, class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2", "CAMRQ4", "DKFZp434B1913", "IB", "ML-1", "P4-ATPase flippase complex alpha subunit ATP8A2", "phospholipid-transporting ATPase IB", "probable phospholipid-transporting ATPase IB" ], "secondaryIds": [ "RGD:1344629" ], "genomeLocations": [ { "strand": "+", "endPosition": 26025851, "chromosome": "13", "assembly": "GRCh38", "startPosition": 25371974 } ], "primaryId": "HGNC:13533", "crossReferences": [ { "id": "ENSEMBL:ENSG00000132932" }, { "id": "NCBI_Gene:51761" }, { "id": "PANTHER:PTHR24092" }, { "id": "UniProtKB:Q9NTI2" }, { "pages": [ "gene/references" ], "id": "RGD:1344629" }, { "pages": [ "gene" ], "id": "HGNC:13533" }, { "id": "RGD:1344629" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP8A2P1", "soTermId": "SO:0000336", "name": "ATPase phospholipid transporting 8A2 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:5128956" ], "genomeLocations": [ { "strand": "+", "endPosition": 37264637, "chromosome": "10", "assembly": "GRCh38", "startPosition": 37248118 } ], "primaryId": "HGNC:39662", "crossReferences": [ { "id": "NCBI_Gene:100422505" }, { "pages": [ "gene/references" ], "id": "RGD:5128956" }, { "pages": [ "gene" ], "id": "HGNC:39662" }, { "id": "RGD:5128956" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP8A2P2", "soTermId": "SO:0000336", "name": "ATPase phospholipid transporting 8A2 pseudogene 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:5131587" ], "genomeLocations": [ { "strand": "+", "endPosition": 32478850, "chromosome": "13", "assembly": "GRCh38", "startPosition": 32477174 } ], "primaryId": "HGNC:39663", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229800" }, { "id": "NCBI_Gene:100533851" }, { "pages": [ "gene/references" ], "id": "RGD:5131587" }, { "pages": [ "gene" ], "id": "HGNC:39663" }, { "id": "RGD:5131587" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP8A2P3", "soTermId": "SO:0000336", "name": "ATPase phospholipid transporting 8A2 pseudogene 3", "basicGeneticEntity": { "secondaryIds": [ "RGD:6480957" ], "genomeLocations": [ { "strand": "-", "endPosition": 26154175, "chromosome": "13", "assembly": "GRCh38", "startPosition": 26094724 } ], "primaryId": "HGNC:42641", "crossReferences": [ { "id": "ENSEMBL:ENSG00000233963" }, { "id": "NCBI_Gene:100874518" }, { "pages": [ "gene/references" ], "id": "RGD:6480957" }, { "pages": [ "gene" ], "id": "HGNC:42641" }, { "id": "RGD:6480957" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP8B1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ATPase phospholipid transporting 8B1", "basicGeneticEntity": { "synonyms": [ "ATPIC", "ATPase, aminophospholipid transporter, class I, type 8B, member 1", "ATPase, class I, type 8B, member 1", "BRIC", "E1-E2 ATPase", "FIC1", "ICP1", "P4-ATPase flippase complex alpha subunit ATP8B1", "PFIC", "PFIC1", "familial intrahepatic cholestasis type 1", "phospholipid-transporting ATPase IC", "probable phospholipid-transporting ATPase IC" ], "secondaryIds": [ "RGD:1318284" ], "genomeLocations": [ { "strand": "-", "endPosition": 57803560, "chromosome": "18", "assembly": "GRCh38", "startPosition": 57646426 } ], "primaryId": "HGNC:3706", "crossReferences": [ { "id": "ENSEMBL:ENSG00000081923" }, { "id": "NCBI_Gene:5205" }, { "id": "PANTHER:PTHR24092" }, { "id": "UniProtKB:O43520" }, { "pages": [ "gene/references" ], "id": "RGD:1318284" }, { "pages": [ "gene" ], "id": "HGNC:3706" }, { "id": "RGD:1318284" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP8B1-AS1", "soTermId": "SO:0001263", "name": "ATP8B1 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AC027097.1", "LOC100505549", "novel transcript, antisense to ATP8B1", "uncharacterized LOC100505549" ], "secondaryIds": [ "RGD:16564407" ], "genomeLocations": [ { "strand": "+", "endPosition": 57738678, "chromosome": "18", "assembly": "GRCh38", "startPosition": 57629870 } ], "primaryId": "HGNC:56042", "crossReferences": [ { "id": "ENSEMBL:ENSG00000267040" }, { "id": "NCBI_Gene:100505549" }, { "pages": [ "gene/references" ], "id": "RGD:16564407" }, { "pages": [ "gene" ], "id": "HGNC:56042" }, { "id": "RGD:16564407" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP8B2", "geneSynopsis": "The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATPase phospholipid transporting 8B2", "basicGeneticEntity": { "synonyms": [ "36/8-9 fusion protein with epitope for anti-lectin antibody", "ATPID", "ATPase, aminophospholipid transporter, class I, type 8B, member 2", "ATPase, class I, type 8B, member 2", "DKFZp434M0219", "KIAA1137", "P4-ATPase flippase complex alpha subunit ATP8B2", "phospholipid-transporting ATPase ID", "probable phospholipid-transporting ATPase ID" ], "secondaryIds": [ "RGD:1318635" ], "genomeLocations": [ { "strand": "+", "endPosition": 154351307, "chromosome": "1", "assembly": "GRCh38", "startPosition": 154325520 } ], "primaryId": "HGNC:13534", "crossReferences": [ { "id": "ENSEMBL:ENSG00000143515" }, { "id": "NCBI_Gene:57198" }, { "id": "PANTHER:PTHR24092" }, { "id": "UniProtKB:P98198" }, { "pages": [ "gene/references" ], "id": "RGD:1318635" }, { "pages": [ "gene" ], "id": "HGNC:13534" }, { "id": "RGD:1318635" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP8B3", "geneSynopsis": "The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to the other. This gene encodes member 3 of phospholipid-transporting ATPase 8B; other members of this protein family are located on chromosomes 1, 15 and 18. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]", "soTermId": "SO:0001217", "name": "ATPase phospholipid transporting 8B3", "basicGeneticEntity": { "synonyms": [ "ATPIK", "ATPase, aminophospholipid transporter, class I, type 8B, member 3", "ATPase, class I, type 8B, member 3", "aminophospholipid translocase ATP8B3", "phospholipid-transporting ATPase IK", "potential phospholipid-transporting ATPase IK", "probable phospholipid-transporting ATPase IK" ], "secondaryIds": [ "RGD:1316924" ], "genomeLocations": [ { "strand": "-", "endPosition": 1812276, "chromosome": "19", "assembly": "GRCh38", "startPosition": 1782075 } ], "primaryId": "HGNC:13535", "crossReferences": [ { "id": "ENSEMBL:ENSG00000130270" }, { "id": "NCBI_Gene:148229" }, { "id": "PANTHER:PTHR24092" }, { "id": "UniProtKB:O60423" }, { "pages": [ "gene/references" ], "id": "RGD:1316924" }, { "pages": [ "gene" ], "id": "HGNC:13535" }, { "id": "RGD:1316924" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP8B4", "geneSynopsis": "This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]", "soTermId": "SO:0001217", "name": "ATPase phospholipid transporting 8B4 (putative)", "basicGeneticEntity": { "synonyms": [ "ATPIM", "ATPase, class I, type 8B, member 4", "FLJ25418", "P4-ATPase flippase complex alpha subunit ATP8B4", "potential phospholipid-transporting ATPase IM", "probable phospholipid-transporting ATPase IM", "putative phospholipid-transporting ATPase IM" ], "secondaryIds": [ "RGD:1315485" ], "genomeLocations": [ { "strand": "-", "endPosition": 50182817, "chromosome": "15", "assembly": "GRCh38", "startPosition": 49858238 } ], "primaryId": "HGNC:13536", "crossReferences": [ { "id": "ENSEMBL:ENSG00000104043" }, { "id": "NCBI_Gene:79895" }, { "id": "PANTHER:PTHR24092" }, { "id": "UniProtKB:Q8TF62" }, { "pages": [ "gene/references" ], "id": "RGD:1315485" }, { "pages": [ "gene" ], "id": "HGNC:13536" }, { "id": "RGD:1315485" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP8B5P", "geneSynopsis": "Predicted to enable phosphatidylcholine flippase activity and phosphatidylethanolamine flippase activity. Predicted to be involved in Golgi organization and phospholipid transport. Predicted to be located in acrosomal vesicle and membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0000336", "name": "ATPase phospholipid transporting 8B5, pseudogene", "basicGeneticEntity": { "synonyms": [ "FetA" ], "secondaryIds": [ "RGD:1604224" ], "genomeLocations": [ { "strand": "+", "endPosition": 35483035, "chromosome": "9", "assembly": "GRCh38", "startPosition": 35406749 } ], "primaryId": "HGNC:27245", "crossReferences": [ { "id": "ENSEMBL:ENSG00000290567" }, { "id": "ENSEMBL:ENSG00000179766" }, { "id": "NCBI_Gene:158381" }, { "pages": [ "gene/references" ], "id": "RGD:1604224" }, { "pages": [ "gene" ], "id": "HGNC:27245" }, { "id": "RGD:1604224" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP9A", "geneSynopsis": "Enables protease binding activity. Involved in negative regulation of exosomal secretion; regulation of endocytic recycling; and regulation of retrograde transport, endosome to Golgi. Located in several cellular components, including endosome; perinuclear region of cytoplasm; and trans-Golgi network membrane. Implicated in neurodevelopmental disorder with poor growth and behavioral abnormalities. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ATPase phospholipid transporting 9A", "basicGeneticEntity": { "synonyms": [ "ATPIIA", "ATPase phospholipid transporting 9A (putative)", "ATPase type IV, phospholipid-transporting (P-type),(putative)", "ATPase, class II, type 9A", "KIAA0611", "NEDGBA", "phospholipid-transporting ATPase IIA", "probable phospholipid-transporting ATPase IIA" ], "secondaryIds": [ "RGD:735480" ], "genomeLocations": [ { "strand": "-", "endPosition": 51768390, "chromosome": "20", "assembly": "GRCh38", "startPosition": 51596514 } ], "primaryId": "HGNC:13540", "crossReferences": [ { "id": "ENSEMBL:ENSG00000054793" }, { "id": "NCBI_Gene:10079" }, { "id": "PANTHER:PTHR24092" }, { "id": "UniProtKB:O75110" }, { "pages": [ "gene/references" ], "id": "RGD:735480" }, { "pages": [ "gene" ], "id": "HGNC:13540" }, { "id": "RGD:735480" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP9B", "geneSynopsis": "Predicted to enable ATPase-coupled intramembrane lipid transporter activity. Predicted to be involved in endocytosis; phospholipid translocation; and retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum. Located in perinuclear region of cytoplasm and trans-Golgi network. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ATPase phospholipid transporting 9B", "basicGeneticEntity": { "synonyms": [ "ATPASEP", "ATPIIB", "ATPase phospholipid transporting 9B (putative)", "ATPase type IV, phospholipid transporting (P-type)", "ATPase type IV, phospholipid transporting (P-type)(putative)", "ATPase, class II, type 9B", "DKFZp686H2093", "FLJ46612", "HUSSY-20", "MGC150650", "MGC150651", "MGC61572", "NEO1L", "hMMR1", "macrophage MHC receptor 1", "phospholipid-transporting ATPase IIB", "probable phospholipid-transporting ATPase IIB", "putative phospholipid-transporting ATPase IIB" ], "secondaryIds": [ "RGD:1353015" ], "genomeLocations": [ { "strand": "+", "endPosition": 79378391, "chromosome": "18", "assembly": "GRCh38", "startPosition": 79069272 } ], "primaryId": "HGNC:13541", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166377" }, { "id": "NCBI_Gene:374868" }, { "id": "PANTHER:PTHR24092" }, { "id": "UniProtKB:O43861" }, { "pages": [ "gene/references" ], "id": "RGD:1353015" }, { "pages": [ "gene" ], "id": "HGNC:13541" }, { "id": "RGD:1353015" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATP9B-AS1", "soTermId": "SO:0001263", "name": "ATP9B antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:617301374" ], "primaryId": "HGNC:58587", "crossReferences": [ { "id": "NCBI_Gene:142592823" }, { "pages": [ "gene/references" ], "id": "RGD:617301374" }, { "pages": [ "gene" ], "id": "HGNC:58587" }, { "id": "RGD:617301374" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATPAF1", "geneSynopsis": "This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]", "soTermId": "SO:0001217", "name": "ATP synthase mitochondrial F1 complex assembly factor 1", "basicGeneticEntity": { "synonyms": [ "ATP11", "ATP11 homolog", "ATP11p", "FLJ22351", "FLJ55378", "FLJ60653", "MGC88060", "homolog of yeast ATP11" ], "secondaryIds": [ "RGD:1313436" ], "genomeLocations": [ { "strand": "-", "endPosition": 46673867, "chromosome": "1", "assembly": "GRCh38", "startPosition": 46632071 } ], "primaryId": "HGNC:18803", "crossReferences": [ { "id": "ENSEMBL:ENSG00000123472" }, { "id": "NCBI_Gene:64756" }, { "id": "PANTHER:PTHR13126" }, { "id": "UniProtKB:Q5TC12" }, { "pages": [ "gene/references" ], "id": "RGD:1313436" }, { "pages": [ "gene" ], "id": "HGNC:18803" }, { "id": "RGD:1313436" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATPAF2", "geneSynopsis": "This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ATP synthase mitochondrial F1 complex assembly factor 2", "basicGeneticEntity": { "synonyms": [ "ATP12", "ATP12 homolog", "ATP12p", "LP3663", "MC5DN1", "MGC29736" ], "secondaryIds": [ "RGD:1313025" ], "genomeLocations": [ { "strand": "-", "endPosition": 18039209, "chromosome": "17", "assembly": "GRCh38", "startPosition": 17977409 } ], "primaryId": "HGNC:18802", "crossReferences": [ { "id": "ENSEMBL:ENSG00000171953" }, { "id": "NCBI_Gene:91647" }, { "id": "PANTHER:PTHR21013" }, { "id": "UniProtKB:Q8N5M1" }, { "pages": [ "gene/references" ], "id": "RGD:1313025" }, { "pages": [ "gene" ], "id": "HGNC:18802" }, { "id": "RGD:1313025" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATPSCKMT", "geneSynopsis": "Enables protein-lysine N-methyltransferase activity. Involved in several processes, including peptidyl-lysine trimethylation; positive regulation of proton-transporting ATP synthase activity, rotational mechanism; and positive regulation of sensory perception of pain. Located in mitochondrial crista. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ATP synthase c subunit lysine N-methyltransferase", "basicGeneticEntity": { "synonyms": [ "ATP synthase subunit C lysine N-methyltransferase", "FAM173B", "FLJ20667", "JS-2", "family with sequence similarity 173 member B", "family with sequence similarity 173, member B", "hFAM173B", "hypothetical protein LOC134145" ], "secondaryIds": [ "RGD:1603183" ], "genomeLocations": [ { "strand": "-", "endPosition": 10249897, "chromosome": "5", "assembly": "GRCh38", "startPosition": 10225507 } ], "primaryId": "HGNC:27029", "crossReferences": [ { "id": "ENSEMBL:ENSG00000150756" }, { "id": "NCBI_Gene:134145" }, { "id": "PANTHER:PTHR13610" }, { "id": "UniProtKB:Q6P4H8" }, { "pages": [ "gene/references" ], "id": "RGD:1603183" }, { "pages": [ "gene" ], "id": "HGNC:27029" }, { "id": "RGD:1603183" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATR", "geneSynopsis": "The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved in the inhibition of DNA replication and mitosis, and can promote DNA repair, recombination, and apoptosis. This protein is also important for fragile site stability and centrosome duplication. Defects in this gene are a cause of Seckel syndrome 1. [provided by RefSeq, Aug 2017]", "soTermId": "SO:0001217", "name": "ATR checkpoint kinase", "basicGeneticEntity": { "synonyms": [ "ATR serine/threonine kinase", "FCTCS", "FRAP-related protein 1", "FRAP-related protein-1", "FRP1", "MEC1", "MEC1, mitosis entry checkpoint 1, homolog", "Rad3 related protein", "SCKL", "SCKL1", "ataxia telangiectasia and Rad3 related", "ataxia telangiectasia and Rad3-related protein", "protein kinase ATR", "serine/threonine-protein kinase ATR" ], "secondaryIds": [ "RGD:1314047" ], "genomeLocations": [ { "strand": "-", "endPosition": 142578781, "chromosome": "3", "assembly": "GRCh38", "startPosition": 142449007 } ], "primaryId": "HGNC:882", "crossReferences": [ { "id": "ENSEMBL:ENSG00000175054" }, { "id": "NCBI_Gene:545" }, { "id": "PANTHER:PTHR11139" }, { "id": "UniProtKB:Q13535" }, { "pages": [ "gene/references" ], "id": "RGD:1314047" }, { "pages": [ "gene" ], "id": "HGNC:882" }, { "id": "RGD:1314047" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATRAID", "geneSynopsis": "This gene is thought to be involved in apoptosis, and may also be involved in hematopoietic development and differentiation. The use of alternative splice sites and promotors result in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2009]", "soTermId": "SO:0001217", "name": "all-trans retinoic acid induced differentiation factor", "basicGeneticEntity": { "synonyms": [ "APR--3", "APR-3", "APR3", "C2orf28", "HSPC013", "PRO240", "all-trans retinoic acid-induced differentiation factor", "apoptosis related protein 3", "apoptosis related protein APR-3", "apoptosis-related protein 3", "p18" ], "secondaryIds": [ "RGD:1323150" ], "genomeLocations": [ { "strand": "+", "endPosition": 27217183, "chromosome": "2", "assembly": "GRCh38", "startPosition": 27212041 } ], "primaryId": "HGNC:24090", "crossReferences": [ { "id": "ENSEMBL:ENSG00000138085" }, { "id": "NCBI_Gene:51374" }, { "id": "PANTHER:PTHR15926" }, { "id": "UniProtKB:Q6UW56" }, { "pages": [ "gene/references" ], "id": "RGD:1323150" }, { "pages": [ "gene" ], "id": "HGNC:24090" }, { "id": "RGD:1323150" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATRIP", "geneSynopsis": "This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]", "soTermId": "SO:0001217", "name": "ATR interacting protein", "basicGeneticEntity": { "synonyms": [ "ATM and Rad3-related-interacting protein", "ATR-interacting protein" ], "secondaryIds": [ "RGD:30306251" ], "genomeLocations": [ { "strand": "+", "endPosition": 48467645, "chromosome": "3", "assembly": "GRCh38", "startPosition": 48446710 } ], "primaryId": "HGNC:33499", "crossReferences": [ { "id": "ENSEMBL:ENSG00000164053" }, { "id": "NCBI_Gene:84126" }, { "id": "PANTHER:PTHR28594" }, { "id": "UniProtKB:Q8WXE1" }, { "pages": [ "gene/references" ], "id": "RGD:30306251" }, { "pages": [ "gene" ], "id": "HGNC:33499" }, { "id": "RGD:30306251" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATRN", "geneSynopsis": "This gene encodes both membrane-bound and secreted protein isoforms. A membrane-bound isoform exhibits sequence similarity with the mouse mahogany protein, a receptor involved in controlling obesity. A secreted isoform is involved in the initial immune cell clustering during inflammatory responses that may regulate the chemotactic activity of chemokines. [provided by RefSeq, Apr 2016]", "soTermId": "SO:0001217", "name": "attractin", "basicGeneticEntity": { "synonyms": [ "DPPT-L", "KIAA0548", "MGC126754", "MGCA", "attractin-2", "mahogany homolog", "mahogany protein" ], "secondaryIds": [ "RGD:69117" ], "genomeLocations": [ { "strand": "+", "endPosition": 3651118, "chromosome": "20", "assembly": "GRCh38", "startPosition": 3471018 } ], "primaryId": "HGNC:885", "crossReferences": [ { "id": "ENSEMBL:ENSG00000088812" }, { "id": "NCBI_Gene:8455" }, { "id": "PANTHER:PTHR46376" }, { "id": "UniProtKB:O75882" }, { "pages": [ "gene/references" ], "id": "RGD:69117" }, { "pages": [ "gene" ], "id": "HGNC:885" }, { "id": "RGD:69117" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATRNL1", "geneSynopsis": "Predicted to enable Notch binding activity. Predicted to act upstream of or within G protein-coupled receptor signaling pathway. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "attractin like 1", "basicGeneticEntity": { "synonyms": [ "ALP", "FLJ45344", "KIAA0534", "attractin-like 1", "attractin-like protein 1", "bA338L11.1", "bA454H24.1" ], "secondaryIds": [ "RGD:1607060" ], "genomeLocations": [ { "strand": "+", "endPosition": 115948999, "chromosome": "10", "assembly": "GRCh38", "startPosition": 115093365 } ], "primaryId": "HGNC:29063", "crossReferences": [ { "id": "ENSEMBL:ENSG00000107518" }, { "id": "NCBI_Gene:26033" }, { "id": "PANTHER:PTHR46376" }, { "id": "UniProtKB:Q5VV63" }, { "pages": [ "gene/references" ], "id": "RGD:1607060" }, { "pages": [ "gene" ], "id": "HGNC:29063" }, { "id": "RGD:1607060" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATRX", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ATRX chromatin remodeler", "basicGeneticEntity": { "synonyms": [ "ATP-dependent helicase ATRX", "ATR2", "ATRX, chromatin remodeler", "DNA dependent ATPase and helicase", "JMS", "Juberg-Marsidi syndrome", "MGC2094", "MRX52", "MRXHF1", "RAD54", "RAD54 homolog", "RAD54L", "SFM1", "SHS", "Sutherland-Haan X-linked mental retardation syndrome", "X-linked helicase II", "X-linked nuclear protein", "XH2", "XNP", "ZNF-HX", "Zinc finger helicase", "alpha thalassemia/mental retardation syndrome X-linked", "alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)", "helicase 2, X-linked", "mental retardation, X-linked 52", "transcriptional regulator ATRX" ], "secondaryIds": [ "RGD:1605736" ], "genomeLocations": [ { "strand": "-", "endPosition": 77786233, "chromosome": "X", "assembly": "GRCh38", "startPosition": 77504880 } ], "primaryId": "HGNC:886", "crossReferences": [ { "id": "ENSEMBL:ENSG00000085224" }, { "id": "NCBI_Gene:546" }, { "id": "PANTHER:PTHR46357" }, { "id": "UniProtKB:P46100" }, { "pages": [ "gene/references" ], "id": "RGD:1605736" }, { "pages": [ "gene" ], "id": "HGNC:886" }, { "id": "RGD:1605736" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATXN1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ataxin 1", "basicGeneticEntity": { "synonyms": [ "ATX1", "D6S504E", "SCA1", "alternative ataxin1", "ataxin-1", "spinocerebellar ataxia type 1 protein" ], "secondaryIds": [ "RGD:1344585" ], "genomeLocations": [ { "strand": "-", "endPosition": 16761491, "chromosome": "6", "assembly": "GRCh38", "startPosition": 16299112 } ], "primaryId": "HGNC:10548", "crossReferences": [ { "id": "ENSEMBL:ENSG00000124788" }, { "id": "NCBI_Gene:6310" }, { "id": "PANTHER:PTHR13392" }, { "id": "UniProtKB:P54253" }, { "pages": [ "gene/references" ], "id": "RGD:1344585" }, { "pages": [ "gene" ], "id": "HGNC:10548" }, { "id": "RGD:1344585" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATXN1-AS1", "geneSynopsis": "INTERACTS WITH sodium arsenite", "soTermId": "SO:0001263", "name": "ATXN1 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:14700640" ], "genomeLocations": [ { "strand": "+", "endPosition": 16766883, "chromosome": "6", "assembly": "GRCh38", "startPosition": 16761138 } ], "primaryId": "HGNC:40515", "crossReferences": [ { "id": "NCBI_Gene:101928433" }, { "pages": [ "gene/references" ], "id": "RGD:14700640" }, { "pages": [ "gene" ], "id": "HGNC:40515" }, { "id": "RGD:14700640" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATXN10", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ataxin 10", "basicGeneticEntity": { "synonyms": [ "ATX10", "E46L", "FLJ37990", "HUMEEP", "SCA10", "ataxin-10", "brain protein E46 homolog", "spinocerebellar ataxia type 10 protein" ], "secondaryIds": [ "RGD:1351525" ], "genomeLocations": [ { "strand": "+", "endPosition": 45845307, "chromosome": "22", "assembly": "GRCh38", "startPosition": 45671798 } ], "primaryId": "HGNC:10549", "crossReferences": [ { "id": "ENSEMBL:ENSG00000130638" }, { "id": "NCBI_Gene:25814" }, { "id": "PANTHER:PTHR13255" }, { "id": "UniProtKB:Q9UBB4" }, { "pages": [ "gene/references" ], "id": "RGD:1351525" }, { "pages": [ "gene" ], "id": "HGNC:10549" }, { "id": "RGD:1351525" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATXN1L", "geneSynopsis": "Predicted to enable RNA binding activity and chromatin binding activity. Predicted to be involved in several processes, including learning or memory; negative regulation of transcription by RNA polymerase II; and social behavior. Predicted to act upstream of or within extracellular matrix organization; lung alveolus development; and positive regulation of hematopoietic stem cell proliferation. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ataxin 1 like", "basicGeneticEntity": { "synonyms": [ "BOAT", "BOAT1", "DKFZp667N0214", "DKFZp686D05115", "DKFZp686O1195", "FLJ21460", "FLJ21686", "ataxin 1-like", "ataxin-1-like", "brother of ATXN1", "brother of ataxin 1", "brother of ataxin-1" ], "secondaryIds": [ "RGD:1626546" ], "genomeLocations": [ { "strand": "+", "endPosition": 71885268, "chromosome": "16", "assembly": "GRCh38", "startPosition": 71808439 } ], "primaryId": "HGNC:33279", "crossReferences": [ { "id": "ENSEMBL:ENSG00000224470" }, { "id": "NCBI_Gene:342371" }, { "id": "PANTHER:PTHR13392" }, { "id": "UniProtKB:P0C7T5" }, { "pages": [ "gene/references" ], "id": "RGD:1626546" }, { "pages": [ "gene" ], "id": "HGNC:33279" }, { "id": "RGD:1626546" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATXN2", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ataxin 2", "basicGeneticEntity": { "synonyms": [ "ASL13", "ATX2", "FLJ46772", "SCA2", "TNRC13", "ataxin-2", "spinocerebellar ataxia type 2 protein", "trinucleotide repeat containing 13", "trinucleotide repeat-containing gene 13 protein" ], "secondaryIds": [ "RGD:1347160" ], "genomeLocations": [ { "strand": "-", "endPosition": 111599676, "chromosome": "12", "assembly": "GRCh38", "startPosition": 111443485 } ], "primaryId": "HGNC:10555", "crossReferences": [ { "id": "ENSEMBL:ENSG00000204842" }, { "id": "NCBI_Gene:6311" }, { "id": "PANTHER:PTHR12854" }, { "id": "UniProtKB:Q99700" }, { "pages": [ "gene/references" ], "id": "RGD:1347160" }, { "pages": [ "gene" ], "id": "HGNC:10555" }, { "id": "RGD:1347160" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATXN2-AS", "geneSynopsis": "INTERACTS WITH benzo[a]pyrene", "soTermId": "SO:0001263", "name": "ATXN2 antisense RNA", "basicGeneticEntity": { "secondaryIds": [ "RGD:11081057" ], "genomeLocations": [ { "strand": "+", "endPosition": 111650079, "chromosome": "12", "assembly": "GRCh38", "startPosition": 111598856 } ], "primaryId": "HGNC:51838", "crossReferences": [ { "id": "ENSEMBL:ENSG00000258099" }, { "id": "NCBI_Gene:102723619" }, { "pages": [ "gene/references" ], "id": "RGD:11081057" }, { "pages": [ "gene" ], "id": "HGNC:51838" }, { "id": "RGD:11081057" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATXN2L", "geneSynopsis": "This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "ataxin 2 like", "basicGeneticEntity": { "synonyms": [ "A2D", "A2LG", "A2LP", "A2RP", "ataxin 2 related protein", "ataxin 2-like", "ataxin-2 domain protein", "ataxin-2-like protein", "ataxin-2-related protein" ], "secondaryIds": [ "RGD:1604832" ], "genomeLocations": [ { "strand": "+", "endPosition": 28837237, "chromosome": "16", "assembly": "GRCh38", "startPosition": 28822999 } ], "primaryId": "HGNC:31326", "crossReferences": [ { "id": "ENSEMBL:ENSG00000168488" }, { "id": "NCBI_Gene:11273" }, { "id": "PANTHER:PTHR12854" }, { "id": "UniProtKB:Q8WWM7" }, { "pages": [ "gene/references" ], "id": "RGD:1604832" }, { "pages": [ "gene" ], "id": "HGNC:31326" }, { "id": "RGD:1604832" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATXN3", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ataxin 3", "basicGeneticEntity": { "synonyms": [ "AT3", "ATX3", "JOS", "MJD", "MJD1", "Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)", "Machado-Joseph disease protein 1", "RP11-529H20.5", "SCA3", "ataxin 3 variant an", "ataxin 3 variant ao", "ataxin 3 variant at", "ataxin 3 variant e", "ataxin 3 variant h", "ataxin 3 variant m", "ataxin 3 variant r", "ataxin 3 variant ref", "ataxin 3 variant y", "ataxin-3", "josephin", "olivopontocerebellar ataxia 3", "spinocerebellar ataxia type 3 protein" ], "secondaryIds": [ "RGD:1606333" ], "genomeLocations": [ { "strand": "-", "endPosition": 92106622, "chromosome": "14", "assembly": "GRCh38", "startPosition": 92044496 } ], "primaryId": "HGNC:7106", "crossReferences": [ { "id": "ENSEMBL:ENSG00000066427" }, { "id": "NCBI_Gene:4287" }, { "id": "PANTHER:PTHR14159" }, { "id": "UniProtKB:P54252" }, { "pages": [ "gene/references" ], "id": "RGD:1606333" }, { "pages": [ "gene" ], "id": "HGNC:7106" }, { "id": "RGD:1606333" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATXN3L", "geneSynopsis": "This intronless gene may be a pseudogene (PMID:11450850). This gene is similar to the multi-exon gene which encodes ataxin 3 and contains a coding region which could encode a protein similar to ataxin 3. Mutations in the gene encoding ataxin 3 are associated with Machado-Joseph disease. [provided by RefSeq, Sep 2011]", "soTermId": "SO:0001217", "name": "ataxin 3 like", "basicGeneticEntity": { "synonyms": [ "FLJ59638", "MGC168806", "MGC168807", "MJDL", "ataxin 3-like", "machado-Joseph disease protein 1-like", "putative ataxin-3-like protein" ], "secondaryIds": [ "RGD:1606478" ], "genomeLocations": [ { "strand": "-", "endPosition": 13320053, "chromosome": "X", "assembly": "GRCh38", "startPosition": 13318647 } ], "primaryId": "HGNC:24173", "crossReferences": [ { "id": "ENSEMBL:ENSG00000123594" }, { "id": "NCBI_Gene:92552" }, { "id": "PANTHER:PTHR14159" }, { "id": "UniProtKB:Q9H3M9" }, { "pages": [ "gene/references" ], "id": "RGD:1606478" }, { "pages": [ "gene" ], "id": "HGNC:24173" }, { "id": "RGD:1606478" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATXN7", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ataxin 7", "basicGeneticEntity": { "synonyms": [ "ADCAII", "Autosomal dominant cerebellar ataxia with retinal degeneration", "FLJ17787", "OPCA3", "SAGA associated factor 73 kDa homolog", "SCA7", "SGF73", "ataxin-7", "spinocerebellar ataxia type 7 protein" ], "secondaryIds": [ "RGD:1350255" ], "genomeLocations": [ { "strand": "+", "endPosition": 64003558, "chromosome": "3", "assembly": "GRCh38", "startPosition": 63863144 } ], "primaryId": "HGNC:10560", "crossReferences": [ { "id": "ENSEMBL:ENSG00000285258" }, { "id": "ENSEMBL:ENSG00000163635" }, { "id": "NCBI_Gene:6314" }, { "id": "PANTHER:PTHR15117" }, { "id": "UniProtKB:O15265" }, { "pages": [ "gene/references" ], "id": "RGD:1350255" }, { "pages": [ "gene" ], "id": "HGNC:10560" }, { "id": "RGD:1350255" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATXN7L1", "geneSynopsis": "INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 3-isobutyl-1-methyl-7H-xanthine", "soTermId": "SO:0001217", "name": "ataxin 7 like 1", "basicGeneticEntity": { "synonyms": [ "ATXN7L4", "MGC33190", "ataxin 7-like 1", "ataxin 7-like 4", "ataxin-7-like protein 1", "ataxin-7-like protein 4" ], "secondaryIds": [ "RGD:1345348" ], "genomeLocations": [ { "strand": "-", "endPosition": 105876599, "chromosome": "7", "assembly": "GRCh38", "startPosition": 105604772 } ], "primaryId": "HGNC:22210", "crossReferences": [ { "id": "ENSEMBL:ENSG00000146776" }, { "id": "NCBI_Gene:222255" }, { "id": "PANTHER:PTHR15117" }, { "id": "UniProtKB:Q9ULK2" }, { "pages": [ "gene/references" ], "id": "RGD:1345348" }, { "pages": [ "gene" ], "id": "HGNC:22210" }, { "id": "RGD:1345348" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATXN7L2", "geneSynopsis": "INTERACTS WITH acrylamide; aflatoxin B1; atrazine", "soTermId": "SO:0001217", "name": "ataxin 7 like 2", "basicGeneticEntity": { "synonyms": [ "FLJ00381", "MGC46534", "ataxin 7-like 1", "ataxin 7-like 2", "ataxin-7-like protein 2" ], "secondaryIds": [ "RGD:1350736" ], "genomeLocations": [ { "strand": "+", "endPosition": 109492812, "chromosome": "1", "assembly": "GRCh38", "startPosition": 109483479 } ], "primaryId": "HGNC:28713", "crossReferences": [ { "id": "ENSEMBL:ENSG00000162650" }, { "id": "NCBI_Gene:127002" }, { "id": "PANTHER:PTHR15117" }, { "id": "UniProtKB:Q5T6C5" }, { "pages": [ "gene/references" ], "id": "RGD:1350736" }, { "pages": [ "gene" ], "id": "HGNC:28713" }, { "id": "RGD:1350736" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATXN7L3", "geneSynopsis": "Enables transcription coactivator activity. Involved in positive regulation of DNA-templated transcription and regulation of transcription by RNA polymerase II. Located in nucleus. Part of DUBm complex and SAGA complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ataxin 7 like 3", "basicGeneticEntity": { "synonyms": [ "DKFZp761G2113", "HATONS", "SAGA-associated factor 11 homolog", "SGF11", "ataxin 7-like 3", "ataxin-7-like protein 3" ], "secondaryIds": [ "RGD:1342958" ], "genomeLocations": [ { "strand": "-", "endPosition": 44200961, "chromosome": "17", "assembly": "GRCh38", "startPosition": 44191805 } ], "primaryId": "HGNC:25416", "crossReferences": [ { "id": "ENSEMBL:ENSG00000087152" }, { "id": "NCBI_Gene:56970" }, { "id": "PANTHER:PTHR46367" }, { "id": "UniProtKB:Q14CW9" }, { "pages": [ "gene/references" ], "id": "RGD:1342958" }, { "pages": [ "gene" ], "id": "HGNC:25416" }, { "id": "RGD:1342958" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATXN7L3-AS1", "geneSynopsis": "ASSOCIATED WITH Wilson disease", "soTermId": "SO:0001263", "name": "ATXN7L3 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "LOC101926967", "uncharacterized LOC101926967" ], "secondaryIds": [ "RGD:38626632" ], "genomeLocations": [ { "strand": "+", "endPosition": 44234868, "chromosome": "17", "assembly": "GRCh38", "startPosition": 44198520 } ], "primaryId": "HGNC:55298", "crossReferences": [ { "id": "ENSEMBL:ENSG00000267394" }, { "id": "ENSEMBL:ENSG00000260793" }, { "id": "NCBI_Gene:101926967" }, { "pages": [ "gene/references" ], "id": "RGD:38626632" }, { "pages": [ "gene" ], "id": "HGNC:55298" }, { "id": "RGD:38626632" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATXN7L3B", "geneSynopsis": "Involved in regulation of gene expression. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "ataxin 7 like 3B", "basicGeneticEntity": { "synonyms": [ "#8203", "FLJ32080", "MGC17296", "ataxin 7-like 3B", "ataxin-7-like protein 3B", "lnc-SCA7", "putative ataxin-7-like protein 3B" ], "secondaryIds": [ "RGD:2816966" ], "genomeLocations": [ { "strand": "+", "endPosition": 74545430, "chromosome": "12", "assembly": "GRCh38", "startPosition": 74537835 } ], "primaryId": "HGNC:37931", "crossReferences": [ { "id": "ENSEMBL:ENSG00000253719" }, { "id": "NCBI_Gene:552889" }, { "id": "PANTHER:PTHR47733" }, { "id": "UniProtKB:Q96GX2" }, { "pages": [ "gene/references" ], "id": "RGD:2816966" }, { "pages": [ "gene" ], "id": "HGNC:37931" }, { "id": "RGD:2816966" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATXN7L3P1", "soTermId": "SO:0000336", "name": "ATXN7L3 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AL139276.1", "novel pseudogene" ], "secondaryIds": [ "RGD:27096015" ], "genomeLocations": [ { "strand": "-", "endPosition": 66056640, "chromosome": "X", "assembly": "GRCh38", "startPosition": 66055390 } ], "primaryId": "HGNC:54980", "crossReferences": [ { "id": "ENSEMBL:ENSG00000215168" }, { "id": "NCBI_Gene:392485" }, { "pages": [ "gene/references" ], "id": "RGD:27096015" }, { "pages": [ "gene" ], "id": "HGNC:54980" }, { "id": "RGD:27096015" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATXN8", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "ataxin 8", "basicGeneticEntity": { "synonyms": [ "ATXN3", "ataxin-8", "protein 1C2" ], "secondaryIds": [ "RGD:1603419" ], "primaryId": "HGNC:32925", "crossReferences": [ { "id": "NCBI_Gene:724066" }, { "id": "UniProtKB:Q156A1" }, { "pages": [ "gene/references" ], "id": "RGD:1603419" }, { "pages": [ "gene" ], "id": "HGNC:32925" }, { "id": "RGD:1603419" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "ATXN8OS", "geneSynopsis": "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]", "soTermId": "SO:0001263", "name": "ATXN8 opposite strand lncRNA", "basicGeneticEntity": { "synonyms": [ "ATXN8 opposite strand (non-protein coding)", "KLHL1AS", "NCRNA00003", "SCA8" ], "secondaryIds": [ "RGD:1346559" ], "genomeLocations": [ { "strand": "+", "endPosition": 70171738, "chromosome": "13", "assembly": "GRCh38", "startPosition": 70107213 } ], "primaryId": "HGNC:10561", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230223" }, { "id": "NCBI_Gene:6315" }, { "id": "UniProtKB:P0DMR3" }, { "pages": [ "gene/references" ], "id": "RGD:1346559" }, { "pages": [ "gene" ], "id": "HGNC:10561" }, { "id": "RGD:1346559" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AUH", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "AU RNA binding methylglutaconyl-CoA hydratase", "basicGeneticEntity": { "synonyms": [ "3-MG-CoA hydratase", "3-methylglutaconyl-CoA hydratase", "AU RNA binding protein/enoyl-CoA hydratase", "AU RNA binding protein/enoyl-Coenzyme A hydratase", "AU RNA-binding protein/enoyl-Coenzyme A hydratase", "AU-binding protein/Enoyl-CoA hydratase", "AU-specific RNA-binding enoyl-CoA hydratase", "itaconyl-CoA hydratase", "methylglutaconyl-CoA hydratase, mitochondrial" ], "secondaryIds": [ "RGD:1314501" ], "genomeLocations": [ { "strand": "-", "endPosition": 91361961, "chromosome": "9", "assembly": "GRCh38", "startPosition": 91213815 } ], "primaryId": "HGNC:890", "crossReferences": [ { "id": "ENSEMBL:ENSG00000148090" }, { "id": "NCBI_Gene:549" }, { "id": "PANTHER:PTHR11941" }, { "id": "UniProtKB:Q13825" }, { "pages": [ "gene/references" ], "id": "RGD:1314501" }, { "pages": [ "gene" ], "id": "HGNC:890" }, { "id": "RGD:1314501" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AUNIP", "geneSynopsis": "Enables damaged DNA binding activity. Involved in double-strand break repair via homologous recombination; negative regulation of double-strand break repair via nonhomologous end joining; and spindle organization. Located in centrosome; site of DNA damage; and spindle pole. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "aurora kinase A and ninein interacting protein", "basicGeneticEntity": { "synonyms": [ "AIBP", "C1orf135", "FLJ14264", "MGC2603", "RP1-317E23.7", "aurora A-binding protein", "aurora kinase A and ninein-interacting protein", "uncharacterized protein C1orf135" ], "secondaryIds": [ "RGD:1601974" ], "genomeLocations": [ { "strand": "-", "endPosition": 25859458, "chromosome": "1", "assembly": "GRCh38", "startPosition": 25831906 } ], "primaryId": "HGNC:28363", "crossReferences": [ { "id": "ENSEMBL:ENSG00000127423" }, { "id": "NCBI_Gene:79000" }, { "id": "PANTHER:PTHR14526" }, { "id": "UniProtKB:Q9H7T9" }, { "pages": [ "gene/references" ], "id": "RGD:1601974" }, { "pages": [ "gene" ], "id": "HGNC:28363" }, { "id": "RGD:1601974" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AUP1", "geneSynopsis": "The protein encoded this gene is involved in several pathways including quality control of misfolded proteins in the endoplasmic reticulum and lipid droplet accumulation. Lipid droplets are organelles in the cytoplasm that store neutral lipids such as cholesterol esters and trigylycerides to prevent the overabundance of free cholesterol and fatty acids in cells, but also to act as storage for other metabolic processes, such as membrane biogenesis. Reduced expression of this gene results in reduced lipid droplet clustering, a function that is dependent on ubiquitination of the protein. This protein contains multiple domains including a hydrophobic N-terminal domain, an acetyltranferase domain, a ubiquitin-binding CUE domain, and a UBE2B2-binding domain (G2BR). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]", "soTermId": "SO:0001217", "name": "AUP1 lipid droplet regulating VLDL assembly factor", "basicGeneticEntity": { "synonyms": [ "AUP1, lipid droplet regulating VLDL assembly factor", "ancient ubiquitous protein 1", "lipid droplet-regulating VLDL assembly factor AUP1" ], "secondaryIds": [ "RGD:1602731" ], "genomeLocations": [ { "strand": "-", "endPosition": 74529788, "chromosome": "2", "assembly": "GRCh38", "startPosition": 74526636 } ], "primaryId": "HGNC:891", "crossReferences": [ { "id": "ENSEMBL:ENSG00000115307" }, { "id": "NCBI_Gene:550" }, { "id": "PANTHER:PTHR15486" }, { "id": "UniProtKB:Q9Y679" }, { "pages": [ "gene/references" ], "id": "RGD:1602731" }, { "pages": [ "gene" ], "id": "HGNC:891" }, { "id": "RGD:1602731" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AURKA", "geneSynopsis": "The protein encoded by this gene is a cell cycle-regulated kinase that appears to be involved in microtubule formation and/or stabilization at the spindle pole during chromosome segregation. The encoded protein is found at the centrosome in interphase cells and at the spindle poles in mitosis. This gene may play a role in tumor development and progression. A processed pseudogene of this gene has been found on chromosome 1, and an unprocessed pseudogene has been found on chromosome 10. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "aurora kinase A", "basicGeneticEntity": { "synonyms": [ "AIK", "ARK-1", "ARK1", "AURA", "AURORA2", "Aurora-A kinase", "BTAK", "IPL1-related kinase", "MGC34538", "PPP1R47", "STK15", "STK6", "STK7", "aurora 2", "aurora-related kinase 1", "aurora/IPL1-like kinase", "aurora/IPL1-related kinase 1", "breast tumor-amplified kinase", "breast-tumor-amplified kinase", "hARK1", "protein phosphatase 1, regulatory subunit 47", "serine/threonine kinase 15", "serine/threonine kinase 6", "serine/threonine protein kinase 15", "serine/threonine-protein kinase 15", "serine/threonine-protein kinase 6", "serine/threonine-protein kinase aurora-A" ], "secondaryIds": [ "RGD:1353168" ], "genomeLocations": [ { "strand": "-", "endPosition": 56392566, "chromosome": "20", "assembly": "GRCh38", "startPosition": 56369382 } ], "primaryId": "HGNC:11393", "crossReferences": [ { "id": "ENSEMBL:ENSG00000087586" }, { "id": "NCBI_Gene:6790" }, { "id": "PANTHER:PTHR24350" }, { "id": "UniProtKB:O14965" }, { "pages": [ "gene/references" ], "id": "RGD:1353168" }, { "pages": [ "gene" ], "id": "HGNC:11393" }, { "id": "RGD:1353168" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AURKAIP1", "geneSynopsis": "Acts upstream of or within positive regulation of proteolysis. Located in mitochondrial matrix and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "aurora kinase A interacting protein 1", "basicGeneticEntity": { "synonyms": [ "28S ribosomal protein S38, mitochondrial", "AIP", "AKIP", "AURKA-interacting protein", "Cox24", "FLJ20608", "MRP-S38", "aurora kinase A-interacting protein", "aurora-A kinase interacting protein", "mS38", "mitochondrial small ribosomal subunit protein mS38", "small ribosomal subunit protein bS22, mitochondrial", "small ribosomal subunit protein mS38" ], "secondaryIds": [ "RGD:1606265" ], "genomeLocations": [ { "strand": "-", "endPosition": 1375521, "chromosome": "1", "assembly": "GRCh38", "startPosition": 1373729 } ], "primaryId": "HGNC:24114", "crossReferences": [ { "id": "ENSEMBL:ENSG00000175756" }, { "id": "NCBI_Gene:54998" }, { "id": "PANTHER:PTHR32035" }, { "id": "UniProtKB:Q9NWT8" }, { "pages": [ "gene/references" ], "id": "RGD:1606265" }, { "pages": [ "gene" ], "id": "HGNC:24114" }, { "id": "RGD:1606265" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AURKAP1", "geneSynopsis": "INTERACTS WITH sodium arsenite", "soTermId": "SO:0000336", "name": "aurora kinase A pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AURKAPS1", "AurAps1", "STK6P", "serine/threonine kinase 6 pseudogene" ], "secondaryIds": [ "RGD:1350150" ], "genomeLocations": [ { "strand": "-", "endPosition": 220267917, "chromosome": "1", "assembly": "GRCh38", "startPosition": 220266179 } ], "primaryId": "HGNC:18611", "crossReferences": [ { "id": "ENSEMBL:ENSG00000213033" }, { "id": "NCBI_Gene:6791" }, { "pages": [ "gene/references" ], "id": "RGD:1350150" }, { "pages": [ "gene" ], "id": "HGNC:18611" }, { "id": "RGD:1350150" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AURKAP2", "soTermId": "SO:0000336", "name": "aurora kinase A pseudogene 2", "basicGeneticEntity": { "synonyms": [ "AURKAPS2", "STK6LP" ], "secondaryIds": [ "RGD:1352749" ], "genomeLocations": [ { "strand": "+", "endPosition": 114247376, "chromosome": "10", "assembly": "GRCh38", "startPosition": 114245996 } ], "primaryId": "HGNC:18612", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230165" }, { "id": "NCBI_Gene:386665" }, { "pages": [ "gene/references" ], "id": "RGD:1352749" }, { "pages": [ "gene" ], "id": "HGNC:18612" }, { "id": "RGD:1352749" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AURKB", "geneSynopsis": "This gene encodes a member of the aurora kinase subfamily of serine/threonine kinases. The genes encoding the other two members of this subfamily are located on chromosomes 19 and 20. These kinases participate in the regulation of alignment and segregation of chromosomes during mitosis and meiosis through association with microtubules. A pseudogene of this gene is located on chromosome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]", "soTermId": "SO:0001217", "name": "aurora kinase B", "basicGeneticEntity": { "synonyms": [ "AIK2", "AIM-1", "AIM1", "ARK-2", "ARK2", "AurB", "IPL1", "PPP1R48", "STK-1", "STK12", "STK5", "aurkb-sv1", "aurkb-sv2", "aurora 1", "aurora kinase B-Sv1", "aurora kinase B-Sv2", "aurora- and Ipl1-like midbody-associated protein 1", "aurora- and Ipl1-like midbody-associated protein 1 homolog", "aurora-1", "aurora-B", "aurora-related kinase 2", "aurora/IPL1-related kinase 2", "protein phosphatase 1, regulatory subunit 48", "serine/threonine kinase 12", "serine/threonine-protein kinase 12", "serine/threonine-protein kinase 5", "serine/threonine-protein kinase aurora-B" ], "secondaryIds": [ "RGD:731309" ], "genomeLocations": [ { "strand": "-", "endPosition": 8210634, "chromosome": "17", "assembly": "GRCh38", "startPosition": 8204335 } ], "primaryId": "HGNC:11390", "crossReferences": [ { "id": "ENSEMBL:ENSG00000178999" }, { "id": "NCBI_Gene:9212" }, { "id": "PANTHER:PTHR24350" }, { "id": "UniProtKB:Q96GD4" }, { "pages": [ "gene/references" ], "id": "RGD:731309" }, { "pages": [ "gene" ], "id": "HGNC:11390" }, { "id": "RGD:731309" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AURKBP1", "soTermId": "SO:0000336", "name": "aurora kinase B pseudogene 1", "basicGeneticEntity": { "synonyms": [ "AP001331.1", "AURKBPS1", "AurBps1", "aurora kinase B (AURKB) pseudogene" ], "secondaryIds": [ "RGD:1351049" ], "genomeLocations": [ { "strand": "-", "endPosition": 108132183, "chromosome": "8", "assembly": "GRCh38", "startPosition": 108130962 } ], "primaryId": "HGNC:18613", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230948" }, { "id": "NCBI_Gene:644233" }, { "pages": [ "gene/references" ], "id": "RGD:1351049" }, { "pages": [ "gene" ], "id": "HGNC:18613" }, { "id": "RGD:1351049" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AURKC", "geneSynopsis": "This gene encodes a member of the Aurora subfamily of serine/threonine protein kinases. The encoded protein is a chromosomal passenger protein that forms complexes with Aurora-B and inner centromere proteins and may play a role in organizing microtubules in relation to centrosome/spindle function during mitosis. This gene is overexpressed in several cancer cell lines, suggesting an involvement in oncogenic signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "aurora kinase C", "basicGeneticEntity": { "synonyms": [ "AIE2", "AIK3", "ARK-3", "ARK3", "AurC", "HEL-S-90", "SPGF5", "STK13", "aurora 3", "aurora-C", "aurora-related kinase 3", "aurora/IPL1-related kinase 3", "aurora/IPL1/EG2 protein 2", "epididymis secretory protein Li 90", "serine/threonine kinase 13 (aurora/IPL1-like)", "serine/threonine-protein kinase 13", "serine/threonine-protein kinase aurora-C" ], "secondaryIds": [ "RGD:1343852" ], "genomeLocations": [ { "strand": "+", "endPosition": 57235551, "chromosome": "19", "assembly": "GRCh38", "startPosition": 57231009 } ], "primaryId": "HGNC:11391", "crossReferences": [ { "id": "ENSEMBL:ENSG00000105146" }, { "id": "NCBI_Gene:6795" }, { "id": "PANTHER:PTHR24350" }, { "id": "UniProtKB:Q9UQB9" }, { "pages": [ "gene/references" ], "id": "RGD:1343852" }, { "pages": [ "gene" ], "id": "HGNC:11391" }, { "id": "RGD:1343852" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AUTS2", "geneSynopsis": "This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]", "soTermId": "SO:0001217", "name": "activator of transcription and developmental regulator AUTS2", "basicGeneticEntity": { "synonyms": [ "AUTS2, activator of transcription and developmental regulator", "FBRSL2", "KIAA0442", "MGC13140", "MRD26", "autism susceptibility candidate 2", "autism susceptibility gene 2 protein", "autism susceptibility protein 2 long isoform", "autism-related protein 1" ], "secondaryIds": [ "RGD:1320604" ], "genomeLocations": [ { "strand": "+", "endPosition": 70793506, "chromosome": "7", "assembly": "GRCh38", "startPosition": 69598296 } ], "primaryId": "HGNC:14262", "crossReferences": [ { "id": "ENSEMBL:ENSG00000158321" }, { "id": "NCBI_Gene:26053" }, { "id": "PANTHER:PTHR14429" }, { "id": "UniProtKB:Q8WXX7" }, { "pages": [ "gene/references" ], "id": "RGD:1320604" }, { "pages": [ "gene" ], "id": "HGNC:14262" }, { "id": "RGD:1320604" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AVEN", "geneSynopsis": "Involved in negative regulation of apoptotic process. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "apoptosis and caspase activation inhibitor", "basicGeneticEntity": { "synonyms": [ "PDCD12", "apoptosis, caspase activation inhibitor", "cell death regulator Aven", "programmed cell death 12" ], "secondaryIds": [ "RGD:1320536" ], "genomeLocations": [ { "strand": "-", "endPosition": 34075325, "chromosome": "15", "assembly": "GRCh38", "startPosition": 33851781 } ], "primaryId": "HGNC:13509", "crossReferences": [ { "id": "ENSEMBL:ENSG00000169857" }, { "id": "NCBI_Gene:57099" }, { "id": "PANTHER:PTHR16524" }, { "id": "UniProtKB:Q9NQS1" }, { "pages": [ "gene/references" ], "id": "RGD:1320536" }, { "pages": [ "gene" ], "id": "HGNC:13509" }, { "id": "RGD:1320536" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AVIL", "geneSynopsis": "The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "advillin", "basicGeneticEntity": { "synonyms": [ "ADVIL", "DKFZp779O1812", "DOC6", "FLJ12386", "MGC133244", "NPHS21", "p92", "pervin" ], "secondaryIds": [ "RGD:731808" ], "genomeLocations": [ { "strand": "-", "endPosition": 57818734, "chromosome": "12", "assembly": "GRCh38", "startPosition": 57797376 } ], "primaryId": "HGNC:14188", "crossReferences": [ { "id": "ENSEMBL:ENSG00000135407" }, { "id": "NCBI_Gene:10677" }, { "id": "PANTHER:PTHR11977" }, { "id": "UniProtKB:O75366" }, { "pages": [ "gene/references" ], "id": "RGD:731808" }, { "pages": [ "gene" ], "id": "HGNC:14188" }, { "id": "RGD:731808" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AVL9", "geneSynopsis": "Involved in cell migration. Located in recycling endosome. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "AVL9 cell migration associated", "basicGeneticEntity": { "synonyms": [ "AVL9 homolog (S. cerevisiase)", "DKFZp686G0344", "KIAA0241", "late secretory pathway protein AVL9 homolog" ], "secondaryIds": [ "RGD:1604629" ], "genomeLocations": [ { "strand": "+", "endPosition": 32588726, "chromosome": "7", "assembly": "GRCh38", "startPosition": 32495426 } ], "primaryId": "HGNC:28994", "crossReferences": [ { "id": "ENSEMBL:ENSG00000105778" }, { "id": "NCBI_Gene:23080" }, { "id": "PANTHER:PTHR31017" }, { "id": "UniProtKB:Q8NBF6" }, { "pages": [ "gene/references" ], "id": "RGD:1604629" }, { "pages": [ "gene" ], "id": "HGNC:28994" }, { "id": "RGD:1604629" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AVP", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "arginine vasopressin", "basicGeneticEntity": { "synonyms": [ "ADH", "ARVP", "AVP-NPII", "AVRP", "VP", "antidiuretic hormone", "arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal)", "argipressin", "copeptin", "neurohypophyseal", "prepro-AVP-NP II", "prepro-arginine-vasopressin-neurophysin II", "vasopressin-neurophysin 2-copeptin", "vasopressin-neurophysin II-copeptin" ], "secondaryIds": [ "RGD:68968" ], "genomeLocations": [ { "strand": "-", "endPosition": 3084724, "chromosome": "20", "assembly": "GRCh38", "startPosition": 3082556 } ], "primaryId": "HGNC:894", "crossReferences": [ { "id": "ENSEMBL:ENSG00000101200" }, { "id": "NCBI_Gene:551" }, { "id": "PANTHER:PTHR11681" }, { "id": "UniProtKB:P01185" }, { "pages": [ "gene/references" ], "id": "RGD:68968" }, { "pages": [ "gene" ], "id": "HGNC:894" }, { "id": "RGD:68968" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AVPI1", "geneSynopsis": "Predicted to be involved in positive regulation of MAPK cascade. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "arginine vasopressin induced 1", "basicGeneticEntity": { "synonyms": [ "AVP-induced protein 1", "PP5395", "RP11-548K23.7", "VIP32", "VIT32", "arginine vasopressin-induced 1", "arginine vasopressin-induced protein 1", "vasopressin-induced transcript" ], "secondaryIds": [ "RGD:1353971" ], "genomeLocations": [ { "strand": "-", "endPosition": 97687561, "chromosome": "10", "assembly": "GRCh38", "startPosition": 97677422 } ], "primaryId": "HGNC:30898", "crossReferences": [ { "id": "ENSEMBL:ENSG00000119986" }, { "id": "NCBI_Gene:60370" }, { "id": "PANTHER:PTHR14350" }, { "id": "UniProtKB:Q5T686" }, { "pages": [ "gene/references" ], "id": "RGD:1353971" }, { "pages": [ "gene" ], "id": "HGNC:30898" }, { "id": "RGD:1353971" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AVPR1A", "geneSynopsis": "The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1B, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor mediates cell contraction and proliferation, platelet aggregation, release of coagulation factor and glycogenolysis. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "arginine vasopressin receptor 1A", "basicGeneticEntity": { "synonyms": [ "AVPR V1a", "AVPR1", "SCCL vasopressin subtype 1a receptor", "V1-vascular vasopressin receptor AVPR1A", "V1a vasopressin receptor", "V1aR", "antidiuretic hormone receptor 1A", "vascular/hepatic-type arginine vasopressin receptor", "vasopressin V1a receptor" ], "secondaryIds": [ "RGD:68986" ], "genomeLocations": [ { "strand": "-", "endPosition": 63151201, "chromosome": "12", "assembly": "GRCh38", "startPosition": 63142759 } ], "primaryId": "HGNC:895", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166148" }, { "id": "NCBI_Gene:552" }, { "id": "PANTHER:PTHR24241" }, { "id": "UniProtKB:P37288" }, { "pages": [ "gene/references" ], "id": "RGD:68986" }, { "pages": [ "gene" ], "id": "HGNC:895" }, { "id": "RGD:68986" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AVPR1B", "geneSynopsis": "The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1A, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor is primarily located in the anterior pituitary, where it stimulates ACTH release. It is expressed at high levels in ACTH-secreting pituitary adenomas as well as in bronchial carcinoids responsible for the ectopic ACTH syndrome. A spliced antisense transcript of this gene has been reported but its function is not known. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "arginine vasopressin receptor 1B", "basicGeneticEntity": { "synonyms": [ "AVPR V1b", "AVPR V3", "AVPR3", "V1B receptor", "V1bR", "VPR3", "antidiuretic hormone receptor 1B", "arginine vasopressin receptor 3", "pituitary vasopressin receptor 3", "vasopressin V1b receptor", "vasopressin V3 receptor" ], "secondaryIds": [ "RGD:619562" ], "genomeLocations": [ { "strand": "-", "endPosition": 206117699, "chromosome": "1", "assembly": "GRCh38", "startPosition": 206106936 } ], "primaryId": "HGNC:896", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198049" }, { "id": "NCBI_Gene:553" }, { "id": "PANTHER:PTHR24241" }, { "id": "UniProtKB:P47901" }, { "pages": [ "gene/references" ], "id": "RGD:619562" }, { "pages": [ "gene" ], "id": "HGNC:896" }, { "id": "RGD:619562" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AVPR1B-DT", "soTermId": "SO:0001263", "name": "AVPR1B divergent transcript", "basicGeneticEntity": { "synonyms": [ "LOC124904492", "uncharacterized LOC124904492" ], "secondaryIds": [ "RGD:150429670" ], "genomeLocations": [ { "strand": "+", "endPosition": 206126805, "chromosome": "1", "assembly": "GRCh38", "startPosition": 206117783 } ], "primaryId": "HGNC:55832", "crossReferences": [ { "id": "ENSEMBL:ENSG00000226780" }, { "id": "NCBI_Gene:122455332" }, { "pages": [ "gene/references" ], "id": "RGD:150429670" }, { "pages": [ "gene" ], "id": "HGNC:55832" }, { "id": "RGD:150429670" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AVPR2", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "arginine vasopressin receptor 2", "basicGeneticEntity": { "synonyms": [ "ADHR", "AVPR V2", "DI1", "DIR", "DIR3", "MGC126533", "MGC138386", "NDI", "NDI1", "V2R", "antidiuretic hormone receptor", "renal-type arginine vasopressin receptor", "vasopressin V2 receptor" ], "secondaryIds": [ "RGD:730975" ], "genomeLocations": [ { "strand": "+", "endPosition": 153907166, "chromosome": "X", "assembly": "GRCh38", "startPosition": 153902531 } ], "primaryId": "HGNC:897", "crossReferences": [ { "id": "ENSEMBL:ENSG00000126895" }, { "id": "NCBI_Gene:554" }, { "id": "PANTHER:PTHR24241" }, { "id": "UniProtKB:P30518" }, { "pages": [ "gene/references" ], "id": "RGD:730975" }, { "pages": [ "gene" ], "id": "HGNC:897" }, { "id": "RGD:730975" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AWAT1", "geneSynopsis": "The protein encoded by this gene belongs to the diacylglycerol acyltransferase family. It esterifies long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that this enzyme plays a central role in lipid metabolism in skin. Consistent with this observation, this protein is predominantly expressed in the sebaceous gland of the skin. [provided by RefSeq, Sep 2009]", "soTermId": "SO:0001217", "name": "acyl-CoA wax alcohol acyltransferase 1", "basicGeneticEntity": { "synonyms": [ "DGA2", "DGAT2L3", "diacyl-glycerol acyltransferase 2", "diacylglycerol O-acyltransferase 2-like 3", "diacylglycerol O-acyltransferase 2-like protein 3", "diacylglycerol acyltransferase 2", "long-chain-alcohol O-fatty-acyltransferase 1" ], "secondaryIds": [ "RGD:1346796" ], "genomeLocations": [ { "strand": "+", "endPosition": 70240659, "chromosome": "X", "assembly": "GRCh38", "startPosition": 70234655 } ], "primaryId": "HGNC:23252", "crossReferences": [ { "id": "ENSEMBL:ENSG00000204195" }, { "id": "NCBI_Gene:158833" }, { "id": "PANTHER:PTHR12317" }, { "id": "UniProtKB:Q58HT5" }, { "pages": [ "gene/references" ], "id": "RGD:1346796" }, { "pages": [ "gene" ], "id": "HGNC:23252" }, { "id": "RGD:1346796" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AWAT2", "geneSynopsis": "This gene encodes an enzyme belonging to the diacylglycerol acyltransferase family. This enzyme produces wax esters by the esterification of long chain (or wax) alcohols with acyl-CoA-derived fatty acids. It functions in lipid metabolism in the skin, mostly in undifferentiated peripheral sebocytes. This enzyme may also have acyl-CoA:retinol acyltransferase activities, where it catalyzes the synthesis of diacylglycerols and retinyl esters. [provided by RefSeq, May 2010]", "soTermId": "SO:0001217", "name": "acyl-CoA wax alcohol acyltransferase 2", "basicGeneticEntity": { "synonyms": [ "11-cis-RE-synthase", "11-cis-specific retinyl-ester synthase", "ARAT", "DC4", "DGAT2L4", "MFAT", "WS", "acyl-CoA retinol O-fatty-acyltransferase", "diacylglycerol O-acyltransferase 2-like protein 4", "diacylglycerol O-acyltransferase candidate 4", "long-chain-alcohol O-fatty-acyltransferase 2", "multifunctional O-acyltransferase", "retinol O-fatty-acyltransferase" ], "secondaryIds": [ "RGD:1606441" ], "genomeLocations": [ { "strand": "-", "endPosition": 70049988, "chromosome": "X", "assembly": "GRCh38", "startPosition": 70040542 } ], "primaryId": "HGNC:23251", "crossReferences": [ { "id": "ENSEMBL:ENSG00000147160" }, { "id": "NCBI_Gene:158835" }, { "id": "PANTHER:PTHR12317" }, { "id": "UniProtKB:Q6E213" }, { "pages": [ "gene/references" ], "id": "RGD:1606441" }, { "pages": [ "gene" ], "id": "HGNC:23251" }, { "id": "RGD:1606441" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AXDND1", "geneSynopsis": "Predicted to be involved in manchette assembly. Located in ciliary basal body and cytosol. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "axonemal dynein light chain domain containing 1", "basicGeneticEntity": { "synonyms": [ "C1orf125", "DKFZp686H1423", "FLJ25438", "FLJ32940", "RP11-215I23.2", "axonemal dynein light chain domain-containing protein 1", "hypothetical protein LOC126859" ], "secondaryIds": [ "RGD:1605000" ], "genomeLocations": [ { "strand": "+", "endPosition": 179554735, "chromosome": "1", "assembly": "GRCh38", "startPosition": 179365705 } ], "primaryId": "HGNC:26564", "crossReferences": [ { "id": "ENSEMBL:ENSG00000162779" }, { "id": "NCBI_Gene:126859" }, { "id": "PANTHER:PTHR23052" }, { "id": "UniProtKB:Q5T1B0" }, { "pages": [ "gene/references" ], "id": "RGD:1605000" }, { "pages": [ "gene" ], "id": "HGNC:26564" }, { "id": "RGD:1605000" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AXIN1", "geneSynopsis": "This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]", "soTermId": "SO:0001217", "name": "axin 1", "basicGeneticEntity": { "synonyms": [ "AXIN", "CMDOH", "MGC52315", "PPP1R49", "axin-1", "axis inhibition protein 1", "axis inhibitor 1", "fused, mouse, homolog of", "gsk-3beta interacting protein raxin", "hAxin", "protein phosphatase 1, regulatory subunit 49" ], "secondaryIds": [ "RGD:736564" ], "genomeLocations": [ { "strand": "-", "endPosition": 352730, "chromosome": "16", "assembly": "GRCh38", "startPosition": 287440 } ], "primaryId": "HGNC:903", "crossReferences": [ { "id": "ENSEMBL:ENSG00000103126" }, { "id": "NCBI_Gene:8312" }, { "id": "PANTHER:PTHR46102" }, { "id": "UniProtKB:O15169" }, { "pages": [ "gene/references" ], "id": "RGD:736564" }, { "pages": [ "gene" ], "id": "HGNC:903" }, { "id": "RGD:736564" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AXIN2", "geneSynopsis": "The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil. In mouse, conductin organizes a multiprotein complex of APC (adenomatous polyposis of the colon), beta-catenin, glycogen synthase kinase 3-beta, and conductin, which leads to the degradation of beta-catenin. Apparently, the deregulation of beta-catenin is an important event in the genesis of a number of malignancies. The AXIN2 gene has been mapped to 17q23-q24, a region that shows frequent loss of heterozygosity in breast cancer, neuroblastoma, and other tumors. Mutations in this gene have been associated with colorectal cancer with defective mismatch repair. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "axin 2", "basicGeneticEntity": { "synonyms": [ "AXIL", "DKFZp781B0869", "MGC10366", "MGC126582", "ODCRCS", "axin-2", "axin-like protein", "axis inhibition protein 2", "conductin" ], "secondaryIds": [ "RGD:1349667" ], "genomeLocations": [ { "strand": "-", "endPosition": 65562067, "chromosome": "17", "assembly": "GRCh38", "startPosition": 65528561 } ], "primaryId": "HGNC:904", "crossReferences": [ { "id": "ENSEMBL:ENSG00000168646" }, { "id": "NCBI_Gene:8313" }, { "id": "PANTHER:PTHR46102" }, { "id": "UniProtKB:Q9Y2T1" }, { "pages": [ "gene/references" ], "id": "RGD:1349667" }, { "pages": [ "gene" ], "id": "HGNC:904" }, { "id": "RGD:1349667" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AXL", "geneSynopsis": "The protein encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) receptor tyrosine kinase subfamily. The encoded protein possesses an extracellular domain which is composed of two immunoglobulin-like motifs at the N-terminal, followed by two fibronectin type-III motifs. It transduces signals from the extracellular matrix into the cytoplasm by binding to the vitamin K-dependent protein growth arrest-specific 6 (Gas6). This gene may be involved in several cellular functions including growth, migration, aggregation and anti-inflammation in multiple cell types. The encoded protein acts as a host cell receptor for multiple viruses, including Marburg, Ebola and Lassa viruses and is a candidate receptor for the SARS-CoV2 virus. [provided by RefSeq, Sep 2021]", "soTermId": "SO:0001217", "name": "AXL receptor tyrosine kinase", "basicGeneticEntity": { "synonyms": [ "ARK", "AXL oncogene", "AXL transforming sequence/gene", "AXL3", "JTK11", "Tyro7", "UFO", "oncogene AXL", "tyrosine-protein kinase receptor UFO" ], "secondaryIds": [ "RGD:1323764" ], "genomeLocations": [ { "strand": "+", "endPosition": 41261766, "chromosome": "19", "assembly": "GRCh38", "startPosition": 41219174 } ], "primaryId": "HGNC:905", "crossReferences": [ { "id": "ENSEMBL:ENSG00000167601" }, { "id": "NCBI_Gene:558" }, { "id": "PANTHER:PTHR24416" }, { "id": "UniProtKB:P30530" }, { "pages": [ "gene/references" ], "id": "RGD:1323764" }, { "pages": [ "gene" ], "id": "HGNC:905" }, { "id": "RGD:1323764" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AZGP1", "geneSynopsis": "Predicted to enable RNA nuclease activity and protein transmembrane transporter activity. Involved in cell adhesion and detection of chemical stimulus involved in sensory perception of bitter taste. Located in extracellular space. Implicated in prostate carcinoma. Biomarker of several diseases, including gastrointestinal system cancer (multiple); kidney failure (multiple); liver cirrhosis; lung adenocarcinoma; and obesity. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "alpha-2-glycoprotein 1, zinc-binding", "basicGeneticEntity": { "synonyms": [ "Alpha-2-glycoprotein, zinc", "ZA2G", "ZAG", "Zn-alpha2-glycoprotein", "alpha-2-glycoprotein 1, zinc", "testicular tissue protein Li 227", "zinc-alpha-2-glycoprotein", "zn-alpha-2-GP", "zn-alpha-2-glycoprotein" ], "secondaryIds": [ "RGD:735517" ], "genomeLocations": [ { "strand": "-", "endPosition": 99976066, "chromosome": "7", "assembly": "GRCh38", "startPosition": 99966720 } ], "primaryId": "HGNC:910", "crossReferences": [ { "id": "ENSEMBL:ENSG00000160862" }, { "id": "NCBI_Gene:563" }, { "id": "PANTHER:PTHR16675" }, { "id": "UniProtKB:P25311" }, { "pages": [ "gene/references" ], "id": "RGD:735517" }, { "pages": [ "gene" ], "id": "HGNC:910" }, { "id": "RGD:735517" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AZGP1P1", "geneSynopsis": "INTERACTS WITH 17beta-hydroxy-5alpha-androstan-3-one; 2-hydroxypropanoic acid; benzo[a]pyrene", "soTermId": "SO:0000336", "name": "AZGP1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "alpha-2-glycoprotein 1, zinc-binding pseudogene 1" ], "secondaryIds": [ "RGD:1345717" ], "genomeLocations": [ { "strand": "+", "endPosition": 99992985, "chromosome": "7", "assembly": "GRCh38", "startPosition": 99980702 } ], "primaryId": "HGNC:911", "crossReferences": [ { "id": "ENSEMBL:ENSG00000214313" }, { "id": "ENSEMBL:ENSG00000291148" }, { "id": "NCBI_Gene:646282" }, { "pages": [ "gene/references" ], "id": "RGD:1345717" }, { "pages": [ "gene" ], "id": "HGNC:911" }, { "id": "RGD:1345717" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AZGP1P2", "geneSynopsis": "INTERACTS WITH benzo[a]pyrene; O-methyleugenol; okadaic acid", "soTermId": "SO:0000336", "name": "AZGP1 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "alpha-2-glycoprotein 1, zinc-binding pseudogene 2" ], "secondaryIds": [ "RGD:1350566" ], "genomeLocations": [ { "strand": "-", "endPosition": 101289775, "chromosome": "7", "assembly": "GRCh38", "startPosition": 101287479 } ], "primaryId": "HGNC:912", "crossReferences": [ { "id": "ENSEMBL:ENSG00000214252" }, { "id": "NCBI_Gene:401393" }, { "pages": [ "gene/references" ], "id": "RGD:1350566" }, { "pages": [ "gene" ], "id": "HGNC:912" }, { "id": "RGD:1350566" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AZI2", "geneSynopsis": "AZI2, or NAP1, contributes to the activation of NFKB (see MIM 164011)-dependent gene expression by activating IKK-related kinases, such as NAK (TBK1; MIM 604834) (Fujita et al., 2003 [PubMed 14560022]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "5-azacytidine induced 2", "basicGeneticEntity": { "synonyms": [ "5-azacytidine induced gene 2", "5-azacytidine-induced protein 2", "AZ2", "NAK-associated protein 1", "NAP1", "NF-kappa-B-activating kinase-associated protein 1", "TILP" ], "secondaryIds": [ "RGD:1605352" ], "genomeLocations": [ { "strand": "-", "endPosition": 28349050, "chromosome": "3", "assembly": "GRCh38", "startPosition": 28315003 } ], "primaryId": "HGNC:24002", "crossReferences": [ { "id": "ENSEMBL:ENSG00000163512" }, { "id": "NCBI_Gene:64343" }, { "id": "PANTHER:PTHR14432" }, { "id": "UniProtKB:Q9H6S1" }, { "pages": [ "gene/references" ], "id": "RGD:1605352" }, { "pages": [ "gene" ], "id": "HGNC:24002" }, { "id": "RGD:1605352" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AZIN1", "geneSynopsis": "The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 1, the first member of this gene family that is ubiquitously expressed, and is localized in the nucleus and cytoplasm. Overexpression of antizyme inhibitor 1 gene has been associated with increased proliferation, cellular transformation and tumorigenesis. Gene knockout studies showed that homozygous mutant mice lacking functional antizyme inhibitor 1 gene died at birth with abnormal liver morphology. RNA editing of this gene, predominantly in the liver tissue, has been linked to the progression of hepatocellular carcinoma. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014]", "soTermId": "SO:0001217", "name": "antizyme inhibitor 1", "basicGeneticEntity": { "synonyms": [ "AZI", "AZI1", "AZIA1", "MGC3832", "MGC691", "OAZI", "OAZIN", "ODC1L", "ornithine decarboxylase 1-like", "ornithine decarboxylase antizyme inhibitor" ], "secondaryIds": [ "RGD:731863" ], "genomeLocations": [ { "strand": "-", "endPosition": 102893864, "chromosome": "8", "assembly": "GRCh38", "startPosition": 102826111 } ], "primaryId": "HGNC:16432", "crossReferences": [ { "id": "ENSEMBL:ENSG00000155096" }, { "id": "NCBI_Gene:51582" }, { "id": "PANTHER:PTHR11482" }, { "id": "UniProtKB:O14977" }, { "pages": [ "gene/references" ], "id": "RGD:731863" }, { "pages": [ "gene" ], "id": "HGNC:16432" }, { "id": "RGD:731863" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AZIN1-AS2", "soTermId": "SO:0001263", "name": "AZIN1 antisense RNA 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:597830041" ], "primaryId": "HGNC:58328", "crossReferences": [ { "id": "NCBI_Gene:139637957" }, { "pages": [ "gene/references" ], "id": "RGD:597830041" }, { "pages": [ "gene" ], "id": "HGNC:58328" }, { "id": "RGD:597830041" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AZIN2", "geneSynopsis": "The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 2, the second member of this gene family. Like antizyme inhibitor 1, antizyme inhibitor 2 interacts with all 3 antizymes and stimulates ODC activity and polyamine uptake. However, unlike antizyme inhibitor 1, which is ubiquitously expressed and localized in the nucleus and cytoplasm, antizyme inhibitor 2 is predominantly expressed in the brain and testis and localized in the endoplasmic reticulum-golgi intermediate compartment. Recent studies indicate that antizyme inhibitor 2 is also expressed in specific cell types in ovaries, adrenal glands and pancreas, and in mast cells. The exact function of this gene is not known, however, available data suggest its role in cell growth, spermiogenesis, vesicular trafficking and secretion. Accumulation of antizyme inhibitor 2 has also been observed in brains of patients with Alzheimer's disease. There has been confusion in literature and databases over the nomenclature of this gene, stemming from an earlier report that a human cDNA clone (identical to ODCp/AZIN2) had arginine decarboxylase (ADC) activity (PMID:14738999). Subsequent studies in human and mouse showed that antizyme inhibitor 2 was devoid of arginine decarboxylase activity (PMID:19956990). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014]", "soTermId": "SO:0001217", "name": "antizyme inhibitor 2", "basicGeneticEntity": { "synonyms": [ "ADC", "ARGDC", "AZI2", "AZIB1", "KIAA1945", "ODC antizyme inhibitor-2", "ODC-p", "ODC-paralogue", "ODC1L", "ODCp", "arginine decarboxylase", "ornithine decarboxylase like", "ornithine decarboxylase paralog", "ornithine decarboxylase-like protein", "ornithine decarboxylase-paralog" ], "secondaryIds": [ "RGD:1606188" ], "genomeLocations": [ { "strand": "+", "endPosition": 33166795, "chromosome": "1", "assembly": "GRCh38", "startPosition": 33081104 } ], "primaryId": "HGNC:29957", "crossReferences": [ { "id": "ENSEMBL:ENSG00000142920" }, { "id": "NCBI_Gene:113451" }, { "id": "PANTHER:PTHR11482" }, { "id": "UniProtKB:Q96A70" }, { "pages": [ "gene/references" ], "id": "RGD:1606188" }, { "pages": [ "gene" ], "id": "HGNC:29957" }, { "id": "RGD:1606188" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AZU1", "geneSynopsis": "Azurophil granules, specialized lysosomes of the neutrophil, contain at least 10 proteins implicated in the killing of microorganisms. This gene encodes a preproprotein that is proteolytically processed to generate a mature azurophil granule antibiotic protein, with monocyte chemotactic and antimicrobial activity. It is also an important multifunctional inflammatory mediator. This encoded protein is a member of the serine protease gene family but it is not a serine proteinase, because the active site serine and histidine residues are replaced. The genes encoding this protein, neutrophil elastase 2, and proteinase 3 are in a cluster located at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq, Nov 2015]", "soTermId": "SO:0001217", "name": "azurocidin 1", "basicGeneticEntity": { "synonyms": [ "AZAMP", "AZU", "CAP37", "HBP", "HUMAZUR", "NAZC", "azurocidin", "cationic antimicrobial protein 37", "cationic antimicrobial protein CAP37", "hHBP", "heparin-binding protein", "neutrophil azurocidin" ], "secondaryIds": [ "RGD:1345072" ], "genomeLocations": [ { "strand": "+", "endPosition": 832018, "chromosome": "19", "assembly": "GRCh38", "startPosition": 825097 } ], "primaryId": "HGNC:913", "crossReferences": [ { "id": "ENSEMBL:ENSG00000172232" }, { "id": "ENSEMBL:ENSG00000278624" }, { "id": "NCBI_Gene:566" }, { "id": "PANTHER:PTHR24271" }, { "id": "UniProtKB:P20160" }, { "pages": [ "gene/references" ], "id": "RGD:1345072" }, { "pages": [ "gene" ], "id": "HGNC:913" }, { "id": "RGD:1345072" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "AZU1P1", "soTermId": "SO:0000336", "name": "azurocidin 1 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:10400631" ], "genomeLocations": [ { "strand": "-", "endPosition": 39857094, "chromosome": "13", "assembly": "GRCh38", "startPosition": 39856710 } ], "primaryId": "HGNC:49098", "crossReferences": [ { "id": "ENSEMBL:ENSG00000270444" }, { "id": "NCBI_Gene:106480244" }, { "pages": [ "gene/references" ], "id": "RGD:10400631" }, { "pages": [ "gene" ], "id": "HGNC:49098" }, { "id": "RGD:10400631" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B2M", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "beta-2-microglobulin", "basicGeneticEntity": { "synonyms": [ "AMYLD6", "IMD43", "MHC1D4", "beta chain of MHC class I molecules", "beta-2 microglobulin", "beta-2-microglobin" ], "secondaryIds": [ "RGD:735892" ], "genomeLocations": [ { "strand": "+", "endPosition": 44718851, "chromosome": "15", "assembly": "GRCh38", "startPosition": 44711253 } ], "primaryId": "HGNC:914", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166710" }, { "id": "ENSEMBL:ENSG00000273686" }, { "id": "NCBI_Gene:567" }, { "id": "PANTHER:PTHR19944" }, { "id": "UniProtKB:P61769" }, { "pages": [ "gene/references" ], "id": "RGD:735892" }, { "pages": [ "gene" ], "id": "HGNC:914" }, { "id": "RGD:735892" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GALNT1", "geneSynopsis": "This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017]", "soTermId": "SO:0001217", "name": "beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group)", "basicGeneticEntity": { "synonyms": [ "3-GalNAc-T1", "3-GalTase", "B3GALANT1", "B3GALT3", "GLCT3", "GLOB", "Gb4Cer", "P", "P antigen synthase", "P blood group globoside", "P1", "UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)", "UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1", "UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)", "UDP-N-acetylgalactosamine:globotriaosylceramide beta-1,3-N-acetylgalactosaminyltransferase", "b3Gal-T3", "beta-1", "beta-1,3-GalNAc-T1", "beta-1,3-GalTase 3", "beta-1,3-galactosyltransferase 3", "beta-3-Gx-T3", "beta3Gal-T3", "beta3GalT3", "brainiac1", "galT3", "galactosylgalactosylglucosylceramide beta-D-acetyl-galactosaminyltransferase", "globoside synthase", "globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase", "udp-gal:betaglcnac beta 1,3-galactosyltransferase, polypeptide 3" ], "secondaryIds": [ "RGD:1312449" ], "genomeLocations": [ { "strand": "-", "endPosition": 161105445, "chromosome": "3", "assembly": "GRCh38", "startPosition": 161083612 } ], "primaryId": "HGNC:918", "crossReferences": [ { "id": "ENSEMBL:ENSG00000169255" }, { "id": "NCBI_Gene:8706" }, { "id": "PANTHER:PTHR11214" }, { "id": "UniProtKB:O75752" }, { "pages": [ "gene/references" ], "id": "RGD:1312449" }, { "pages": [ "gene" ], "id": "HGNC:918" }, { "id": "RGD:1312449" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GALNT1P1", "geneSynopsis": "INTERACTS WITH sodium arsenite", "soTermId": "SO:0000336", "name": "beta-1,3-N-acetylgalactosaminyltransferase 1 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:9586592" ], "genomeLocations": [ { "strand": "+", "endPosition": 69599151, "chromosome": "2", "assembly": "GRCh38", "startPosition": 69597353 } ], "primaryId": "HGNC:51302", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229948" }, { "id": "NCBI_Gene:100128857" }, { "pages": [ "gene/references" ], "id": "RGD:9586592" }, { "pages": [ "gene" ], "id": "HGNC:51302" }, { "id": "RGD:9586592" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GALNT2", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "beta-1,3-N-acetylgalactosaminyltransferase 2", "basicGeneticEntity": { "synonyms": [ "B3GalNAc-T2", "MDDGA11", "MGC39558", "UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2", "UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2", "UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2", "beta 1,3-N-acetylgalactosaminyltransferase-II (MGC39558)", "beta-1,3-GalNAc-T2", "beta-1,3-N-acetylgalactosaminyltransferase II", "beta-1,3-galactosaminyltransferase 2" ], "secondaryIds": [ "RGD:1345395" ], "genomeLocations": [ { "strand": "-", "endPosition": 235504474, "chromosome": "1", "assembly": "GRCh38", "startPosition": 235439796 } ], "primaryId": "HGNC:28596", "crossReferences": [ { "id": "ENSEMBL:ENSG00000162885" }, { "id": "ENSEMBL:ENSG00000282880" }, { "id": "NCBI_Gene:148789" }, { "id": "PANTHER:PTHR11214" }, { "id": "UniProtKB:Q8NCR0" }, { "pages": [ "gene/references" ], "id": "RGD:1345395" }, { "pages": [ "gene" ], "id": "HGNC:28596" }, { "id": "RGD:1345395" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GALNT2P1", "geneSynopsis": "INTERACTS WITH lipopolysaccharide; S-(1,2-dichlorovinyl)-L-cysteine", "soTermId": "SO:0000336", "name": "beta-1,3-N-acetylgalactosaminyltransferase 2 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:9587212" ], "genomeLocations": [ { "strand": "+", "endPosition": 129802214, "chromosome": "6", "assembly": "GRCh38", "startPosition": 129794024 } ], "primaryId": "HGNC:51315", "crossReferences": [ { "id": "ENSEMBL:ENSG00000218725" }, { "id": "NCBI_Gene:100130402" }, { "pages": [ "gene/references" ], "id": "RGD:9587212" }, { "pages": [ "gene" ], "id": "HGNC:51315" }, { "id": "RGD:9587212" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GALT1", "geneSynopsis": "This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is expressed exclusively in the brain. The encoded protein shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "beta-1,3-galactosyltransferase 1", "basicGeneticEntity": { "synonyms": [ "MGC126594", "UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase 1", "UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1", "UDP-galactose:beta-N-acetyl-glucosamine-beta-1,3-galactosyltransferase 1", "beta-1,3-GalTase 1", "beta-3-galt1", "beta3Gal-T1", "beta3GalT1" ], "secondaryIds": [ "RGD:1323596" ], "genomeLocations": [ { "strand": "+", "endPosition": 167874045, "chromosome": "2", "assembly": "GRCh38", "startPosition": 167293001 } ], "primaryId": "HGNC:916", "crossReferences": [ { "id": "ENSEMBL:ENSG00000172318" }, { "id": "NCBI_Gene:8708" }, { "id": "PANTHER:PTHR11214" }, { "id": "UniProtKB:Q9Y5Z6" }, { "pages": [ "gene/references" ], "id": "RGD:1323596" }, { "pages": [ "gene" ], "id": "HGNC:916" }, { "id": "RGD:1323596" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GALT1-AS1", "geneSynopsis": "ASSOCIATED WITH prostate cancer", "soTermId": "SO:0001263", "name": "B3GALT1 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:14700571" ], "genomeLocations": [ { "strand": "-", "endPosition": 167941183, "chromosome": "2", "assembly": "GRCh38", "startPosition": 167814756 } ], "primaryId": "HGNC:40089", "crossReferences": [ { "id": "ENSEMBL:ENSG00000235335" }, { "id": "NCBI_Gene:105616981" }, { "pages": [ "gene/references" ], "id": "RGD:14700571" }, { "pages": [ "gene" ], "id": "HGNC:40089" }, { "id": "RGD:14700571" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GALT2", "geneSynopsis": "This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene encodes a protein that functions in N-linked glycoprotein glycosylation and shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "beta-1,3-galactosyltransferase 2", "basicGeneticEntity": { "synonyms": [ "BETA3GALT2", "GLCT2", "UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase 2", "UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2", "UDP-galactose:2-acetamido-2-deoxy-D-glucose 3beta-galactosyltransferase 2", "beta-1,3-GalTase 2", "beta-3-galt2", "beta3Gal-T2" ], "secondaryIds": [ "RGD:1347261" ], "genomeLocations": [ { "strand": "-", "endPosition": 193186613, "chromosome": "1", "assembly": "GRCh38", "startPosition": 193178730 } ], "primaryId": "HGNC:917", "crossReferences": [ { "id": "ENSEMBL:ENSG00000162630" }, { "id": "NCBI_Gene:8707" }, { "id": "PANTHER:PTHR11214" }, { "id": "UniProtKB:O43825" }, { "pages": [ "gene/references" ], "id": "RGD:1347261" }, { "pages": [ "gene" ], "id": "HGNC:917" }, { "id": "RGD:1347261" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GALT4", "geneSynopsis": "This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is oriented telomere to centromere in close proximity to the ribosomal protein S18 gene. The functionality of the encoded protein is limited to ganglioseries glycolipid biosynthesis. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "beta-1,3-galactosyltransferase 4", "basicGeneticEntity": { "synonyms": [ "BETA3GALT4", "GALT2", "GALT4", "UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase 4", "UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4", "UDP-galactose:beta-N-acetyl-galactosamine-beta-1,3-galactosyltransferase", "b3Gal-T4", "beta-1,3-GalTase 4", "beta-3-galactosyltransferase 4", "gal-T2", "ganglioside galactosyltransferase" ], "secondaryIds": [ "RGD:1343637" ], "genomeLocations": [ { "strand": "+", "endPosition": 33284832, "chromosome": "6", "assembly": "GRCh38", "startPosition": 33277123 } ], "primaryId": "HGNC:919", "crossReferences": [ { "id": "ENSEMBL:ENSG00000235863" }, { "id": "ENSEMBL:ENSG00000236802" }, { "id": "ENSEMBL:ENSG00000206285" }, { "id": "ENSEMBL:ENSG00000235155" }, { "id": "ENSEMBL:ENSG00000226936" }, { "id": "NCBI_Gene:8705" }, { "id": "PANTHER:PTHR11214" }, { "id": "UniProtKB:O96024" }, { "pages": [ "gene/references" ], "id": "RGD:1343637" }, { "pages": [ "gene" ], "id": "HGNC:919" }, { "id": "RGD:1343637" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GALT5", "geneSynopsis": "This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants using multiple alternate promoters have been observed for this gene. [provided by RefSeq, Sep 2017]", "soTermId": "SO:0001217", "name": "beta-1,3-galactosyltransferase 5", "basicGeneticEntity": { "synonyms": [ "B3GalT-V", "B3GalTx", "B3T5", "GLCT5", "GlcNAc-beta-1,3-galactosyltransferase 5", "UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 5", "UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase 5", "UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5", "UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 5", "b3Gal-T5", "beta-1,3-GalTase 5", "beta-3-Gx-T5", "beta-3-galactosyltransferase 5", "beta3Gal-T5", "beta3GalT5", "homolog of C. elegans Bt toxin resistance gene bre-5" ], "secondaryIds": [ "RGD:1315510" ], "genomeLocations": [ { "strand": "+", "endPosition": 39673137, "chromosome": "21", "assembly": "GRCh38", "startPosition": 39556442 } ], "primaryId": "HGNC:920", "crossReferences": [ { "id": "ENSEMBL:ENSG00000183778" }, { "id": "NCBI_Gene:10317" }, { "id": "PANTHER:PTHR11214" }, { "id": "UniProtKB:Q9Y2C3" }, { "pages": [ "gene/references" ], "id": "RGD:1315510" }, { "pages": [ "gene" ], "id": "HGNC:920" }, { "id": "RGD:1315510" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GALT5-AS1", "geneSynopsis": "INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; 4,4'-sulfonyldiphenol; benzo[a]pyrene", "soTermId": "SO:0001263", "name": "B3GALT5 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "C21orf88", "FLJ26079" ], "secondaryIds": [ "RGD:1343351" ], "genomeLocations": [ { "strand": "-", "endPosition": 39612910, "chromosome": "21", "assembly": "GRCh38", "startPosition": 39527841 } ], "primaryId": "HGNC:16424", "crossReferences": [ { "id": "ENSEMBL:ENSG00000184809" }, { "id": "NCBI_Gene:114041" }, { "id": "UniProtKB:P59052" }, { "pages": [ "gene/references" ], "id": "RGD:1343351" }, { "pages": [ "gene" ], "id": "HGNC:16424" }, { "id": "RGD:1343351" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GALT6", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "beta-1,3-galactosyltransferase 6", "basicGeneticEntity": { "synonyms": [ "ALGAZ", "EDSP2", "EDSSPD2", "GAG GalTII", "SEMDJL1", "UDP-Gal:betaGal beta 1,3-galactosyltransferase 6", "UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6", "UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6", "beta-1,3-GalTase 6", "beta3Gal-T6", "beta3GalT6", "galactosyltransferase II", "galactosylxylosylprotein 3-beta-galactosyltransferase" ], "secondaryIds": [ "RGD:1319963" ], "genomeLocations": [ { "strand": "+", "endPosition": 1235041, "chromosome": "1", "assembly": "GRCh38", "startPosition": 1232237 } ], "primaryId": "HGNC:17978", "crossReferences": [ { "id": "ENSEMBL:ENSG00000176022" }, { "id": "NCBI_Gene:126792" }, { "id": "PANTHER:PTHR11214" }, { "id": "UniProtKB:Q96L58" }, { "pages": [ "gene/references" ], "id": "RGD:1319963" }, { "pages": [ "gene" ], "id": "HGNC:17978" }, { "id": "RGD:1319963" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GALT9", "geneSynopsis": "Predicted to enable glycosyltransferase activity. Predicted to be involved in protein O-linked glycosylation. Predicted to be located in Golgi apparatus and membrane. Predicted to be active in Golgi membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "beta-1,3-galactosyltransferase 9", "basicGeneticEntity": { "synonyms": [ "B3GNT10", "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 10 (putative)", "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 pseudogene", "putative UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase LOC100288842", "putative UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase LOC402377" ], "secondaryIds": [ "RGD:13462034" ], "genomeLocations": [ { "strand": "+", "endPosition": 120801787, "chromosome": "9", "assembly": "GRCh38", "startPosition": 120792403 } ], "primaryId": "HGNC:53652", "crossReferences": [ { "id": "ENSEMBL:ENSG00000214654" }, { "id": "NCBI_Gene:100288842" }, { "id": "PANTHER:PTHR11214" }, { "id": "UniProtKB:A8MXE2" }, { "pages": [ "gene/references" ], "id": "RGD:13462034" }, { "pages": [ "gene" ], "id": "HGNC:53652" }, { "id": "RGD:13462034" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GAT1", "geneSynopsis": "The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "beta-1,3-glucuronyltransferase 1", "basicGeneticEntity": { "synonyms": [ "CD57", "CD57 antigen", "GLCATP", "GLCUATP", "HNK1", "LEU7", "LEU7 antigen", "NK-1", "NK1", "UDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferase", "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "glcUAT-P", "glucuronosyltransferase P" ], "secondaryIds": [ "RGD:733365" ], "genomeLocations": [ { "strand": "-", "endPosition": 134412242, "chromosome": "11", "assembly": "GRCh38", "startPosition": 134378504 } ], "primaryId": "HGNC:921", "crossReferences": [ { "id": "ENSEMBL:ENSG00000109956" }, { "id": "NCBI_Gene:27087" }, { "id": "PANTHER:PTHR10896" }, { "id": "UniProtKB:Q9P2W7" }, { "pages": [ "gene/references" ], "id": "RGD:733365" }, { "pages": [ "gene" ], "id": "HGNC:921" }, { "id": "RGD:733365" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GAT1-DT", "geneSynopsis": "INTERACTS WITH okadaic acid", "soTermId": "SO:0001263", "name": "B3GAT1 divergent transcript", "basicGeneticEntity": { "synonyms": [ "AP004608.1", "B3GAT1 diverget transcript" ], "secondaryIds": [ "RGD:27375414" ], "genomeLocations": [ { "strand": "+", "endPosition": 134532225, "chromosome": "11", "assembly": "GRCh38", "startPosition": 134412267 } ], "primaryId": "HGNC:27449", "crossReferences": [ { "id": "ENSEMBL:ENSG00000255545" }, { "id": "NCBI_Gene:283177" }, { "pages": [ "gene/references" ], "id": "RGD:27375414" }, { "pages": [ "gene" ], "id": "HGNC:27449" }, { "id": "RGD:27375414" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GAT2", "geneSynopsis": "The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "beta-1,3-glucuronyltransferase 2", "basicGeneticEntity": { "synonyms": [ "GLCATS", "GlcAT-S", "KIAA1963", "MGC138535", "UDP-glucuronosyltransferase S", "UDP-glucuronyltransferase S", "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2", "glcAT-D", "glucuronosyltransferase S", "uridine diphosphate glucuronic acid:acceptor glucuronosyltransferase" ], "secondaryIds": [ "RGD:1348026" ], "genomeLocations": [ { "strand": "-", "endPosition": 70957060, "chromosome": "6", "assembly": "GRCh38", "startPosition": 70856679 } ], "primaryId": "HGNC:922", "crossReferences": [ { "id": "ENSEMBL:ENSG00000112309" }, { "id": "NCBI_Gene:135152" }, { "id": "PANTHER:PTHR10896" }, { "id": "UniProtKB:Q9NPZ5" }, { "pages": [ "gene/references" ], "id": "RGD:1348026" }, { "pages": [ "gene" ], "id": "HGNC:922" }, { "id": "RGD:1348026" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GAT3", "geneSynopsis": "The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013]", "soTermId": "SO:0001217", "name": "beta-1,3-glucuronyltransferase 3", "basicGeneticEntity": { "synonyms": [ "GLCATI", "JDSCD", "Sqv-8-like protein", "UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase", "beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)", "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3", "glcUAT-I", "glucuronosyltransferase I" ], "secondaryIds": [ "RGD:1323698" ], "genomeLocations": [ { "strand": "-", "endPosition": 62622154, "chromosome": "11", "assembly": "GRCh38", "startPosition": 62615296 } ], "primaryId": "HGNC:923", "crossReferences": [ { "id": "ENSEMBL:ENSG00000149541" }, { "id": "NCBI_Gene:26229" }, { "id": "PANTHER:PTHR10896" }, { "id": "UniProtKB:O94766" }, { "pages": [ "gene/references" ], "id": "RGD:1323698" }, { "pages": [ "gene" ], "id": "HGNC:923" }, { "id": "RGD:1323698" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GAT3P1", "soTermId": "SO:0000336", "name": "beta-1,3-glucuronyltransferase 3 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "B3GAT3P", "PSIGLCAT-I" ], "secondaryIds": [ "RGD:2306330" ], "genomeLocations": [ { "strand": "+", "endPosition": 160453809, "chromosome": "3", "assembly": "GRCh38", "startPosition": 160452368 } ], "primaryId": "HGNC:35243", "crossReferences": [ { "id": "ENSEMBL:ENSG00000244009" }, { "id": "NCBI_Gene:402146" }, { "pages": [ "gene/references" ], "id": "RGD:2306330" }, { "pages": [ "gene" ], "id": "HGNC:35243" }, { "id": "RGD:2306330" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GLCT", "geneSynopsis": "The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009]", "soTermId": "SO:0001217", "name": "beta 3-glucosyltransferase", "basicGeneticEntity": { "synonyms": [ "B3GALTL", "B3GTL", "B3Glc-T", "Gal-T", "UDP-GAL:beta-GlcNAc beta-1,3-galactosyltransferase-like", "beta 1,3-galactosyltransferase-like", "beta 3-glycosyltransferase-like", "beta-1,3-glucosyltransferase", "beta-3-glycosyltransferase-like", "beta3Glc-T" ], "secondaryIds": [ "RGD:1604745" ], "genomeLocations": [ { "strand": "+", "endPosition": 31332276, "chromosome": "13", "assembly": "GRCh38", "startPosition": 31199975 } ], "primaryId": "HGNC:20207", "crossReferences": [ { "id": "ENSEMBL:ENSG00000187676" }, { "id": "NCBI_Gene:145173" }, { "id": "PANTHER:PTHR10811" }, { "id": "UniProtKB:Q6Y288" }, { "pages": [ "gene/references" ], "id": "RGD:1604745" }, { "pages": [ "gene" ], "id": "HGNC:20207" }, { "id": "RGD:1604745" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GNT2", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2", "basicGeneticEntity": { "synonyms": [ "3-Gn-T1", "3-Gn-T2", "B3GN-T1", "B3GN-T2", "B3GNT", "B3GNT-2", "B3GNT1", "BETA3GNT", "BGNT2", "BGnT-2", "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2", "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1", "beta-1", "beta-1,3-Gn-T1", "beta-1,3-Gn-T2", "beta-1,3-N-acetylglucosaminyltransferase bGnT-1", "beta-1,3-N-acetylglucosaminyltransferase bGnT-2", "beta3Gn-T1", "beta3Gn-T2" ], "secondaryIds": [ "RGD:1320774" ], "genomeLocations": [ { "strand": "+", "endPosition": 62224731, "chromosome": "2", "assembly": "GRCh38", "startPosition": 62195485 } ], "primaryId": "HGNC:15629", "crossReferences": [ { "id": "ENSEMBL:ENSG00000170340" }, { "id": "NCBI_Gene:10678" }, { "id": "PANTHER:PTHR11214" }, { "id": "UniProtKB:Q9NY97" }, { "pages": [ "gene/references" ], "id": "RGD:1320774" }, { "pages": [ "gene" ], "id": "HGNC:15629" }, { "id": "RGD:1320774" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GNT2P1", "soTermId": "SO:0000336", "name": "B3GNT2 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 pseudogene 1" ], "secondaryIds": [ "RGD:9587213" ], "genomeLocations": [ { "strand": "-", "endPosition": 99888106, "chromosome": "X", "assembly": "GRCh38", "startPosition": 99886625 } ], "primaryId": "HGNC:51316", "crossReferences": [ { "id": "ENSEMBL:ENSG00000229946" }, { "id": "NCBI_Gene:100422469" }, { "pages": [ "gene/references" ], "id": "RGD:9587213" }, { "pages": [ "gene" ], "id": "HGNC:51316" }, { "id": "RGD:9587213" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GNT3", "geneSynopsis": "This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein and contains a signal anchor that is not cleaved. It prefers the substrates of lacto-N-tetraose and lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains and the biosynthesis of the backbone structure of dimeric sialyl Lewis a. It plays dominant roles in L-selectin ligand biosynthesis, lymphocyte homing and lymphocyte trafficking. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3", "basicGeneticEntity": { "synonyms": [ "B3GAL-T8", "B3GN-T3", "B3GNT-3", "BGnT-3", "HP10328", "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3", "TMEM3", "UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 8", "UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 8", "beta-1,3-GalTase 8", "beta-1,3-Gn-T3", "beta-1,3-N-acetylglucosaminyltransferase 3", "beta-1,3-N-acetylglucosaminyltransferase bGnT-3", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase", "beta-1,3-galactosyltransferase 8", "beta-3-Gx-T8", "beta3Gal-T8", "beta3GalT8", "beta3Gn-T3", "core 1 extending beta-1,3-N-acetylglucosaminyltransferase", "core1-beta3GlcNAcT", "putative type II membrane protein", "transmembrane protein 3" ], "secondaryIds": [ "RGD:1313012" ], "genomeLocations": [ { "strand": "+", "endPosition": 17814175, "chromosome": "19", "assembly": "GRCh38", "startPosition": 17794697 } ], "primaryId": "HGNC:13528", "crossReferences": [ { "id": "ENSEMBL:ENSG00000179913" }, { "id": "NCBI_Gene:10331" }, { "id": "PANTHER:PTHR11214" }, { "id": "UniProtKB:Q9Y2A9" }, { "pages": [ "gene/references" ], "id": "RGD:1313012" }, { "pages": [ "gene" ], "id": "HGNC:13528" }, { "id": "RGD:1313012" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GNT4", "geneSynopsis": "This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4", "basicGeneticEntity": { "synonyms": [ "B3GN-T4", "BGnT-4", "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4", "beta-1,3-Gn-T4", "beta-1,3-N-acetylglucosaminyltransferase 4", "beta-1,3-N-acetylglucosaminyltransferase bGn-T4", "beta3Gn-T4" ], "secondaryIds": [ "RGD:1320043" ], "genomeLocations": [ { "strand": "+", "endPosition": 122208952, "chromosome": "12", "assembly": "GRCh38", "startPosition": 122203681 } ], "primaryId": "HGNC:15683", "crossReferences": [ { "id": "ENSEMBL:ENSG00000176383" }, { "id": "NCBI_Gene:79369" }, { "id": "PANTHER:PTHR11214" }, { "id": "UniProtKB:Q9C0J1" }, { "pages": [ "gene/references" ], "id": "RGD:1320043" }, { "pages": [ "gene" ], "id": "HGNC:15683" }, { "id": "RGD:1320043" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GNT5", "geneSynopsis": "This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II membrane protein. It exhibits strong activity to transfer GlcNAc to glycolipid substrates and is identified as the most likely candidate for lactotriaosylceramide synthase. This enzyme is essential for the expression of Lewis X epitopes on glycolipids. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5", "basicGeneticEntity": { "synonyms": [ "B3GN-T5", "BGnT-5", "UDP-GlcNAc:beta-Gal beta-1,3-N-acetylglucosaminyltransferase 5", "beta 1,3 N-acetyglucosaminyltransferase Lc3 synthase", "beta-1,3-Gn-T5", "beta-1,3-N-acetylglucosaminyltransferase 5", "beta-1,3-N-acetylglucosaminyltransferase bGnT-5", "beta3Gn-T5", "lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase", "lactotriaosylceramide synthase", "lc(3)Cer synthase", "lc3 synthase" ], "secondaryIds": [ "RGD:735674" ], "genomeLocations": [ { "strand": "+", "endPosition": 183298504, "chromosome": "3", "assembly": "GRCh38", "startPosition": 183249324 } ], "primaryId": "HGNC:15684", "crossReferences": [ { "id": "ENSEMBL:ENSG00000176597" }, { "id": "NCBI_Gene:84002" }, { "id": "PANTHER:PTHR11214" }, { "id": "UniProtKB:Q9BYG0" }, { "pages": [ "gene/references" ], "id": "RGD:735674" }, { "pages": [ "gene" ], "id": "HGNC:15684" }, { "id": "RGD:735674" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GNT6", "geneSynopsis": "The protein encoded by this gene is a beta-1,3-N-acetylglucosaminyltransferase that adds an N-acetylglucosamine moiety to N-acetylgalactosamine-modified serine or threonine. The encoded enzyme is responsible for creating the core 3 structure of O-glycans, which are important components of mucin-type glycoproteins. [provided by RefSeq, Dec 2016]", "soTermId": "SO:0001217", "name": "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6", "basicGeneticEntity": { "synonyms": [ "B3Gn-T6", "BGnT-6", "IMAGE:4907098", "MGC119334", "MGC119336", "MGC119337", "acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase", "beta-1,3-Gn-T6", "beta-1,3-N-acetylglucosaminyltransferase 6", "beta-1,3-N-acetylglucosaminyltransferase protein", "beta3Gn-T6", "core 3 synthase" ], "secondaryIds": [ "RGD:1601928" ], "genomeLocations": [ { "strand": "+", "endPosition": 77041973, "chromosome": "11", "assembly": "GRCh38", "startPosition": 77034398 } ], "primaryId": "HGNC:24141", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198488" }, { "id": "NCBI_Gene:192134" }, { "id": "PANTHER:PTHR11214" }, { "id": "UniProtKB:Q6ZMB0" }, { "pages": [ "gene/references" ], "id": "RGD:1601928" }, { "pages": [ "gene" ], "id": "HGNC:24141" }, { "id": "RGD:1601928" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GNT7", "geneSynopsis": "Enables acetylglucosaminyltransferase activity. Involved in keratan sulfate proteoglycan biosynthetic process. Predicted to be located in Golgi apparatus and membrane. Predicted to be active in Golgi membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7", "basicGeneticEntity": { "synonyms": [ "BGnT-7", "beta 1,3-N-acetylglucosaminyltransferase 7", "beta-1,3-Gn-T7", "beta-1,3-N-acetylglucosaminyltransferase 7", "beta3Gn-T7", "beta3GnT7" ], "secondaryIds": [ "RGD:1321569" ], "genomeLocations": [ { "strand": "+", "endPosition": 231408799, "chromosome": "2", "assembly": "GRCh38", "startPosition": 231395671 } ], "primaryId": "HGNC:18811", "crossReferences": [ { "id": "ENSEMBL:ENSG00000156966" }, { "id": "NCBI_Gene:93010" }, { "id": "PANTHER:PTHR11214" }, { "id": "UniProtKB:Q8NFL0" }, { "pages": [ "gene/references" ], "id": "RGD:1321569" }, { "pages": [ "gene" ], "id": "HGNC:18811" }, { "id": "RGD:1321569" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GNT8", "geneSynopsis": "Enables protein N-acetylglucosaminyltransferase activity. Involved in poly-N-acetyllactosamine biosynthetic process. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8", "basicGeneticEntity": { "synonyms": [ "B3GALT7", "BGALT15", "BGnT-8", "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 8", "UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 7", "beta galactosyltransferase BGALT15", "beta-1,3-Gn-T8", "beta-1,3-N-acetylglucosaminyltransferase 8", "beta1,3-N-acetylglucosaminyltransferase 8", "beta3Gn-T8" ], "secondaryIds": [ "RGD:1313364" ], "genomeLocations": [ { "strand": "-", "endPosition": 41428730, "chromosome": "19", "assembly": "GRCh38", "startPosition": 41425359 } ], "primaryId": "HGNC:24139", "crossReferences": [ { "id": "ENSEMBL:ENSG00000177191" }, { "id": "NCBI_Gene:374907" }, { "id": "PANTHER:PTHR11214" }, { "id": "UniProtKB:Q7Z7M8" }, { "pages": [ "gene/references" ], "id": "RGD:1313364" }, { "pages": [ "gene" ], "id": "HGNC:24139" }, { "id": "RGD:1313364" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GNT9", "geneSynopsis": "Predicted to enable UDP-glycosyltransferase activity. Predicted to be involved in poly-N-acetyllactosamine biosynthetic process and protein O-linked glycosylation. Predicted to be located in Golgi apparatus and membrane. Predicted to be active in Golgi membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9", "basicGeneticEntity": { "synonyms": [ "BGnT-9", "MGC4655", "beta-1,3-Gn-T9", "beta-1,3-N-acetylglucosaminyltransferase 9", "beta-1,3-galactosyltransferase-related protein", "beta3Gn-T9" ], "secondaryIds": [ "RGD:1603192" ], "genomeLocations": [ { "strand": "-", "endPosition": 67151260, "chromosome": "16", "assembly": "GRCh38", "startPosition": 67148104 } ], "primaryId": "HGNC:28714", "crossReferences": [ { "id": "ENSEMBL:ENSG00000237172" }, { "id": "NCBI_Gene:84752" }, { "id": "PANTHER:PTHR11214" }, { "id": "UniProtKB:Q6UX72" }, { "pages": [ "gene/references" ], "id": "RGD:1603192" }, { "pages": [ "gene" ], "id": "HGNC:28714" }, { "id": "RGD:1603192" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GNTL1P1", "soTermId": "SO:0000336", "name": "B3GNTL1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 pseudogene 1" ], "secondaryIds": [ "RGD:10413211" ], "genomeLocations": [ { "strand": "+", "endPosition": 52889954, "chromosome": "5", "assembly": "GRCh38", "startPosition": 52889666 } ], "primaryId": "HGNC:51317", "crossReferences": [ { "id": "ENSEMBL:ENSG00000251237" }, { "id": "NCBI_Gene:106481968" }, { "pages": [ "gene/references" ], "id": "RGD:10413211" }, { "pages": [ "gene" ], "id": "HGNC:51317" }, { "id": "RGD:10413211" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B3GNTL1P2", "soTermId": "SO:0000336", "name": "B3GNTL1 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 pseudogene 2" ], "secondaryIds": [ "RGD:10399892" ], "genomeLocations": [ { "strand": "+", "endPosition": 47369230, "chromosome": "6", "assembly": "GRCh38", "startPosition": 47368943 } ], "primaryId": "HGNC:51318", "crossReferences": [ { "id": "ENSEMBL:ENSG00000271328" }, { "id": "NCBI_Gene:106480419" }, { "pages": [ "gene/references" ], "id": "RGD:10399892" }, { "pages": [ "gene" ], "id": "HGNC:51318" }, { "id": "RGD:10399892" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B4GALNT1", "geneSynopsis": "GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]", "soTermId": "SO:0001217", "name": "beta-1,4-N-acetyl-galactosaminyltransferase 1", "basicGeneticEntity": { "synonyms": [ "(N-acetylneuraminyl)-galactosylglucosylceramide", "GALGT", "GALNACT", "GD2 synthase, GM2 synthase", "GM2/GD2 synthase", "GalNAc-T", "SPG26", "UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1", "UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)", "beta-1,4 N-acetylgalactosaminyltransferase 1", "beta-1,4-N-acetyl-galactosaminyl transferase 1", "beta1,4GalNAc-T", "beta1-4GalNAc-T", "spastic paraplegia 26" ], "secondaryIds": [ "RGD:731293" ], "genomeLocations": [ { "strand": "-", "endPosition": 57633239, "chromosome": "12", "assembly": "GRCh38", "startPosition": 57623409 } ], "primaryId": "HGNC:4117", "crossReferences": [ { "id": "ENSEMBL:ENSG00000135454" }, { "id": "NCBI_Gene:2583" }, { "id": "PANTHER:PTHR15046" }, { "id": "UniProtKB:Q00973" }, { "pages": [ "gene/references" ], "id": "RGD:731293" }, { "pages": [ "gene" ], "id": "HGNC:4117" }, { "id": "RGD:731293" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B4GALNT2", "geneSynopsis": "B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008]", "soTermId": "SO:0001217", "name": "beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)", "basicGeneticEntity": { "synonyms": [ "B4GALT", "GALGT2", "MGC142235", "MGC142237", "UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase", "UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase", "beta 1,4 N-acetylgalactosaminyltransferase/betal,4 GalNAcT/Sda-GalNAcT", "beta-1,4 N-acetylgalactosaminyltransferase 2", "beta-1,4-N-acetyl-galactosaminyl transferase 2", "beta-1,4-N-acetyl-galactosaminyltransferase 2", "beta-4-N-acetylgalactosaminyltransferase", "sd(a) beta-1,4-GalNAc transferase", "sda beta-1,4-GalNAc transferase" ], "secondaryIds": [ "RGD:1354479" ], "genomeLocations": [ { "strand": "+", "endPosition": 49178647, "chromosome": "17", "assembly": "GRCh38", "startPosition": 49120344 } ], "primaryId": "HGNC:24136", "crossReferences": [ { "id": "ENSEMBL:ENSG00000167080" }, { "id": "NCBI_Gene:124872" }, { "id": "PANTHER:PTHR15046" }, { "id": "UniProtKB:Q8NHY0" }, { "pages": [ "gene/references" ], "id": "RGD:1354479" }, { "pages": [ "gene" ], "id": "HGNC:24136" }, { "id": "RGD:1354479" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B4GALNT2P1", "soTermId": "SO:0000336", "name": "B4GALNT2 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "beta-1,4-N-acetyl-galactosaminyltransferase 2 pseudogene 1" ], "secondaryIds": [ "RGD:10400280" ], "genomeLocations": [ { "strand": "+", "endPosition": 49086702, "chromosome": "17", "assembly": "GRCh38", "startPosition": 49085511 } ], "primaryId": "HGNC:51319", "crossReferences": [ { "id": "ENSEMBL:ENSG00000248883" }, { "id": "NCBI_Gene:106481717" }, { "pages": [ "gene/references" ], "id": "RGD:10400280" }, { "pages": [ "gene" ], "id": "HGNC:51319" }, { "id": "RGD:10400280" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B4GALNT3", "geneSynopsis": "B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]", "soTermId": "SO:0001217", "name": "beta-1,4-N-acetyl-galactosaminyltransferase 3", "basicGeneticEntity": { "synonyms": [ "B4GalNAcT3", "Beta4GalNAc-T3", "FLJ16224", "FLJ40362", "N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N- acetylgalactosaminyltransferase", "N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 2", "NGalNAc-T2", "beta-1,4-N-acetyl-galactosaminyl transferase 3", "beta-1,4-N-acetylgalactosaminyltransferase 3", "beta-1,4-N-acetylgalactosaminyltransferase III", "beta4GalNAcT3" ], "secondaryIds": [ "RGD:1603523" ], "genomeLocations": [ { "strand": "+", "endPosition": 563509, "chromosome": "12", "assembly": "GRCh38", "startPosition": 459923 } ], "primaryId": "HGNC:24137", "crossReferences": [ { "id": "ENSEMBL:ENSG00000139044" }, { "id": "NCBI_Gene:283358" }, { "id": "PANTHER:PTHR12369" }, { "id": "UniProtKB:Q6L9W6" }, { "pages": [ "gene/references" ], "id": "RGD:1603523" }, { "pages": [ "gene" ], "id": "HGNC:24137" }, { "id": "RGD:1603523" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B4GALNT4", "geneSynopsis": "Enables acetylgalactosaminyltransferase activity. Predicted to be located in Golgi cisterna membrane. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "beta-1,4-N-acetyl-galactosaminyltransferase 4", "basicGeneticEntity": { "synonyms": [ "FLJ25045", "N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N- acetylgalactosaminyltransferase", "N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1", "NGalNAc-T1", "beta-1,4-N-acetyl-galactosaminyl transferase 4", "beta-1,4-N-acetylgalactosaminyltransferase IV", "beta1,4-N-acetylgalactosaminyltransferases IV", "beta4GalNAc-T4", "beta4GalNAcT4", "betaGT4" ], "secondaryIds": [ "RGD:1602277" ], "genomeLocations": [ { "strand": "+", "endPosition": 382117, "chromosome": "11", "assembly": "GRCh38", "startPosition": 369457 } ], "primaryId": "HGNC:26315", "crossReferences": [ { "id": "ENSEMBL:ENSG00000182272" }, { "id": "NCBI_Gene:338707" }, { "id": "PANTHER:PTHR12369" }, { "id": "UniProtKB:Q76KP1" }, { "pages": [ "gene/references" ], "id": "RGD:1602277" }, { "pages": [ "gene" ], "id": "HGNC:26315" }, { "id": "RGD:1602277" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B4GALT1", "geneSynopsis": "This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT 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 and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "beta-1,4-galactosyltransferase 1", "basicGeneticEntity": { "synonyms": [ "B4GAL-T1", "CDG2D", "CLDLFIB", "DKFZp686N19253", "GGTB2", "GT1", "GTB", "MGC50983", "N-acetyllactosamine synthase", "UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1", "UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1", "UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1", "beta-1,4-GalTase 1", "beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase", "beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase", "beta4Gal-T1", "glycoprotein-4-beta-galactosyltransferase 2", "lactose synthase", "nal synthase", "neolactotriaosylceramide beta-1,4-galactosyltransferase" ], "secondaryIds": [ "RGD:1349315" ], "genomeLocations": [ { "strand": "-", "endPosition": 33185089, "chromosome": "9", "assembly": "GRCh38", "startPosition": 33100493 } ], "primaryId": "HGNC:924", "crossReferences": [ { "id": "ENSEMBL:ENSG00000086062" }, { "id": "NCBI_Gene:2683" }, { "id": "PANTHER:PTHR19300" }, { "id": "UniProtKB:P15291" }, { "pages": [ "gene/references" ], "id": "RGD:1349315" }, { "pages": [ "gene" ], "id": "HGNC:924" }, { "id": "RGD:1349315" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B4GALT1-AS1", "geneSynopsis": "Predicted to be involved in SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition. Predicted to be part of signal recognition particle, endoplasmic reticulum targeting. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001263", "name": "B4GALT1 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:8656180" ], "genomeLocations": [ { "strand": "+", "endPosition": 33182865, "chromosome": "9", "assembly": "GRCh38", "startPosition": 33166789 } ], "primaryId": "HGNC:49910", "crossReferences": [ { "id": "ENSEMBL:ENSG00000233554" }, { "id": "NCBI_Gene:101929639" }, { "pages": [ "gene/references" ], "id": "RGD:8656180" }, { "pages": [ "gene" ], "id": "HGNC:49910" }, { "id": "RGD:8656180" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B4GALT2", "geneSynopsis": "This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT 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 and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene synthesizes N-acetyllactosamine in glycolipids and glycoproteins. Its substrate specificity is affected by alpha-lactalbumin but it is not expressed in lactating mammary tissue. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]", "soTermId": "SO:0001217", "name": "beta-1,4-galactosyltransferase 2", "basicGeneticEntity": { "synonyms": [ "B4Gal-T2", "B4Gal-T3", "N-acetyllactosamine synthase", "UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 2", "UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase 2", "UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2", "UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 2", "UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 2", "beta-1,4-GalTase 2", "beta-4-GalT2", "beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 2", "beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase", "beta4Gal-T2", "nal synthase" ], "secondaryIds": [ "RGD:1313336" ], "genomeLocations": [ { "strand": "+", "endPosition": 43991173, "chromosome": "1", "assembly": "GRCh38", "startPosition": 43978943 } ], "primaryId": "HGNC:925", "crossReferences": [ { "id": "ENSEMBL:ENSG00000117411" }, { "id": "NCBI_Gene:8704" }, { "id": "PANTHER:PTHR19300" }, { "id": "UniProtKB:O60909" }, { "pages": [ "gene/references" ], "id": "RGD:1313336" }, { "pages": [ "gene" ], "id": "HGNC:925" }, { "id": "RGD:1313336" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B4GALT3", "geneSynopsis": "This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT 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 and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]", "soTermId": "SO:0001217", "name": "beta-1,4-galactosyltransferase 3", "basicGeneticEntity": { "synonyms": [ "N-acetyllactosamine synthase", "UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 3", "UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3", "UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 3", "b4Gal-T3", "beta-1,4-GalTase 3", "beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 3", "beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase", "beta4Gal-T3", "nal synthase", "neolactotriaosylceramide beta-1,4-galactosyltransferase" ], "secondaryIds": [ "RGD:1354334" ], "genomeLocations": [ { "strand": "-", "endPosition": 161178652, "chromosome": "1", "assembly": "GRCh38", "startPosition": 161171306 } ], "primaryId": "HGNC:926", "crossReferences": [ { "id": "ENSEMBL:ENSG00000158850" }, { "id": "NCBI_Gene:8703" }, { "id": "PANTHER:PTHR19300" }, { "id": "UniProtKB:O60512" }, { "pages": [ "gene/references" ], "id": "RGD:1354334" }, { "pages": [ "gene" ], "id": "HGNC:926" }, { "id": "RGD:1354334" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B4GALT4", "geneSynopsis": "This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT 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 and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "beta-1,4-galactosyltransferase 4", "basicGeneticEntity": { "synonyms": [ "B4Gal-T4", "N-acetyllactosamine synthase", "UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 4", "UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase 4", "UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4", "UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 4", "beta-1,4-GalTase 4", "beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 4", "beta4Gal-T4", "lactotriaosylceramide beta-1,4-galactosyltransferase", "nal synthase" ], "secondaryIds": [ "RGD:1317330" ], "genomeLocations": [ { "strand": "-", "endPosition": 119240952, "chromosome": "3", "assembly": "GRCh38", "startPosition": 119211628 } ], "primaryId": "HGNC:927", "crossReferences": [ { "id": "ENSEMBL:ENSG00000121578" }, { "id": "NCBI_Gene:8702" }, { "id": "PANTHER:PTHR19300" }, { "id": "UniProtKB:O60513" }, { "pages": [ "gene/references" ], "id": "RGD:1317330" }, { "pages": [ "gene" ], "id": "HGNC:927" }, { "id": "RGD:1317330" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B4GALT4-AS1", "geneSynopsis": "INTERACTS WITH Aflatoxin B2 alpha; sodium arsenite", "soTermId": "SO:0001263", "name": "B4GALT4 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481160" ], "genomeLocations": [ { "strand": "+", "endPosition": 119290666, "chromosome": "3", "assembly": "GRCh38", "startPosition": 119226469 } ], "primaryId": "HGNC:40090", "crossReferences": [ { "id": "ENSEMBL:ENSG00000240254" }, { "id": "NCBI_Gene:100874201" }, { "pages": [ "gene/references" ], "id": "RGD:6481160" }, { "pages": [ "gene" ], "id": "HGNC:40090" }, { "id": "RGD:6481160" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B4GALT5", "geneSynopsis": "This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT 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 and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "beta-1,4-galactosyltransferase 5", "basicGeneticEntity": { "synonyms": [ "B4Gal-T5", "BETA4-GALT-IV", "MGC138470", "UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 5", "UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5", "UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 5", "UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 5", "beta-1,4-GalT II", "beta-1,4-GalT IV", "beta-1,4-GalTase 5", "beta-1.4-galactosyltransferase V", "beta4-GalT IV", "beta4Gal-T5", "beta4GalT-V", "glucosylceramide beta-1,4-galactosyltransferase", "gt-V", "lacCer synthase", "lactosylceramide synthase" ], "secondaryIds": [ "RGD:1320747" ], "genomeLocations": [ { "strand": "-", "endPosition": 49713908, "chromosome": "20", "assembly": "GRCh38", "startPosition": 49632945 } ], "primaryId": "HGNC:928", "crossReferences": [ { "id": "ENSEMBL:ENSG00000158470" }, { "id": "NCBI_Gene:9334" }, { "id": "PANTHER:PTHR19300" }, { "id": "UniProtKB:O43286" }, { "pages": [ "gene/references" ], "id": "RGD:1320747" }, { "pages": [ "gene" ], "id": "HGNC:928" }, { "id": "RGD:1320747" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B4GALT6", "geneSynopsis": "This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes in human. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT 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 and which then remains uncleaved to function as a transmembrane anchor. This gene produces multiple protein isoforms - some of which are predicted to lack the N-terminal hydrophobic signal sequence and transmembrane domain. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The canonical enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jan 2020]", "soTermId": "SO:0001217", "name": "beta-1,4-galactosyltransferase 6", "basicGeneticEntity": { "synonyms": [ "B4Gal-T6", "UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 6", "UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6", "UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase", "UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 6", "beta-1,4-GalTase 6", "beta4Gal-T6", "beta4GalT-VI", "glucosylceramide beta-1,4-galactosyltransferase", "lacCer synthase", "lactosylceramide synthase" ], "secondaryIds": [ "RGD:737376" ], "genomeLocations": [ { "strand": "-", "endPosition": 31724641, "chromosome": "18", "assembly": "GRCh38", "startPosition": 31621911 } ], "primaryId": "HGNC:929", "crossReferences": [ { "id": "ENSEMBL:ENSG00000118276" }, { "id": "NCBI_Gene:9331" }, { "id": "PANTHER:PTHR19300" }, { "id": "UniProtKB:Q9UBX8" }, { "pages": [ "gene/references" ], "id": "RGD:737376" }, { "pages": [ "gene" ], "id": "HGNC:929" }, { "id": "RGD:737376" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B4GALT7", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "beta-1,4-galactosyltransferase 7", "basicGeneticEntity": { "synonyms": [ "B4GAL-T7", "EDSP1", "EDSSLA", "EDSSPD1", "UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7", "UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7", "UDP-galactose:beta-xylose beta-1,4-galactosyltransferase", "XGALT-1", "XGALT1", "XGPT", "XGPT1", "beta-1,4-GalTase 7", "beta-1,4-galactosyltransferase VII", "beta4Gal-T7", "beta4GalT-VII", "galactosyltransferase I", "proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I", "xylosylprotein 4-beta-galactosyltransferase", "xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7", "xylosylprotein beta-1,4-galactosyltransferase" ], "secondaryIds": [ "RGD:1354325" ], "genomeLocations": [ { "strand": "+", "endPosition": 177611056, "chromosome": "5", "assembly": "GRCh38", "startPosition": 177600114 } ], "primaryId": "HGNC:930", "crossReferences": [ { "id": "ENSEMBL:ENSG00000027847" }, { "id": "NCBI_Gene:11285" }, { "id": "PANTHER:PTHR19300" }, { "id": "UniProtKB:Q9UBV7" }, { "pages": [ "gene/references" ], "id": "RGD:1354325" }, { "pages": [ "gene" ], "id": "HGNC:930" }, { "id": "RGD:1354325" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B4GAT1", "geneSynopsis": "This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "beta-1,4-glucuronyltransferase 1", "basicGeneticEntity": { "synonyms": [ "B3GN-T1", "B3GNT1", "B3GNT6", "BETA3GNTI", "MDDGA13", "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase", "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1", "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6", "beta-1,3-N-acetylglucosaminyltransferase bGnT-6", "i-beta-1,3-N-acetylglucosaminyltransferase", "iGAT", "iGNT", "poly-N-acetyllactosamine extension enzyme" ], "secondaryIds": [ "RGD:1319932" ], "genomeLocations": [ { "strand": "-", "endPosition": 66347638, "chromosome": "11", "assembly": "GRCh38", "startPosition": 66345374 } ], "primaryId": "HGNC:15685", "crossReferences": [ { "id": "ENSEMBL:ENSG00000174684" }, { "id": "NCBI_Gene:11041" }, { "id": "PANTHER:PTHR46420" }, { "id": "UniProtKB:O43505" }, { "pages": [ "gene/references" ], "id": "RGD:1319932" }, { "pages": [ "gene" ], "id": "HGNC:15685" }, { "id": "RGD:1319932" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B4GAT1-DT", "geneSynopsis": "INTERACTS WITH okadaic acid; sotorasib; trametinib", "soTermId": "SO:0001263", "name": "B4GAT1 divergent transcript", "basicGeneticEntity": { "synonyms": [ "AP001107.9", "LOC102724064", "novel transcript, antisense to SLC29A2", "uncharacterized LOC102724064" ], "secondaryIds": [ "RGD:16560771" ], "genomeLocations": [ { "strand": "+", "endPosition": 66364804, "chromosome": "11", "assembly": "GRCh38", "startPosition": 66347845 } ], "primaryId": "HGNC:56070", "crossReferences": [ { "id": "ENSEMBL:ENSG00000255468" }, { "id": "NCBI_Gene:102724064" }, { "pages": [ "gene/references" ], "id": "RGD:16560771" }, { "pages": [ "gene" ], "id": "HGNC:56070" }, { "id": "RGD:16560771" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B9D1", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "B9 domain containing 1", "basicGeneticEntity": { "synonyms": [ "B9", "B9 domain-containing protein 1", "B9 protein domain 1", "EPPB9", "JBTS27", "MKS1-related protein 1", "MKS9", "MKSR-1", "MKSR1", "endothelial precursor protein B9" ], "secondaryIds": [ "RGD:1602004" ], "genomeLocations": [ { "strand": "-", "endPosition": 19378193, "chromosome": "17", "assembly": "GRCh38", "startPosition": 19334308 } ], "primaryId": "HGNC:24123", "crossReferences": [ { "id": "ENSEMBL:ENSG00000108641" }, { "id": "NCBI_Gene:27077" }, { "id": "PANTHER:PTHR12968" }, { "id": "UniProtKB:Q9UPM9" }, { "pages": [ "gene/references" ], "id": "RGD:1602004" }, { "pages": [ "gene" ], "id": "HGNC:24123" }, { "id": "RGD:1602004" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "B9D2", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "B9 domain containing 2", "basicGeneticEntity": { "synonyms": [ "B9 domain-containing protein 2", "B9 protein domain 2", "ICIS-1", "JBTS34", "MGC4093", "MKS1-related protein 2", "MKS10", "MKSR-2", "MKSR2", "involved in cIlia stability-1" ], "secondaryIds": [ "RGD:1603296" ], "genomeLocations": [ { "strand": "-", "endPosition": 41364165, "chromosome": "19", "assembly": "GRCh38", "startPosition": 41354417 } ], "primaryId": "HGNC:28636", "crossReferences": [ { "id": "ENSEMBL:ENSG00000123810" }, { "id": "NCBI_Gene:80776" }, { "id": "PANTHER:PTHR12968" }, { "id": "UniProtKB:Q9BPU9" }, { "pages": [ "gene/references" ], "id": "RGD:1603296" }, { "pages": [ "gene" ], "id": "HGNC:28636" }, { "id": "RGD:1603296" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAALC", "geneSynopsis": "This gene was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene; however, some of the transcript variants are found only in AML cell lines. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "BAALC binder of MAP3K1 and KLF4", "basicGeneticEntity": { "synonyms": [ "BAALC, MAP3K1 and KLF4 binding", "BAALC, MEKK1 and KLF4 binding", "FLJ12015", "brain and acute leukemia cytoplasmic protein", "brain and acute leukemia, cytoplasmic" ], "secondaryIds": [ "RGD:736795" ], "genomeLocations": [ { "strand": "+", "endPosition": 103230305, "chromosome": "8", "assembly": "GRCh38", "startPosition": 103140433 } ], "primaryId": "HGNC:14333", "crossReferences": [ { "id": "ENSEMBL:ENSG00000164929" }, { "id": "NCBI_Gene:79870" }, { "id": "PANTHER:PTHR14731" }, { "id": "UniProtKB:Q8WXS3" }, { "pages": [ "gene/references" ], "id": "RGD:736795" }, { "pages": [ "gene" ], "id": "HGNC:14333" }, { "id": "RGD:736795" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAALC-AS1", "geneSynopsis": "INTERACTS WITH aristolochic acid A; cadmium dichloride; sodium arsenite", "soTermId": "SO:0001263", "name": "BAALC antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "FZD6-DT", "lncFZD6" ], "secondaryIds": [ "RGD:36947644" ], "genomeLocations": [ { "strand": "-", "endPosition": 103172140, "chromosome": "8", "assembly": "GRCh38", "startPosition": 103156990 } ], "primaryId": "HGNC:50461", "crossReferences": [ { "id": "NCBI_Gene:100499183" }, { "pages": [ "gene/references" ], "id": "RGD:36947644" }, { "pages": [ "gene" ], "id": "HGNC:50461" }, { "id": "RGD:36947644" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAALC-AS2", "geneSynopsis": "INTERACTS WITH benzo[a]pyrene; rotenone; valproic acid", "soTermId": "SO:0001263", "name": "BAALC antisense RNA 2", "basicGeneticEntity": { "synonyms": [ "BAALCOS", "C8orf56", "MGC39526" ], "secondaryIds": [ "RGD:1603174" ], "genomeLocations": [ { "strand": "-", "endPosition": 103141615, "chromosome": "8", "assembly": "GRCh38", "startPosition": 103132954 } ], "primaryId": "HGNC:28595", "crossReferences": [ { "id": "ENSEMBL:ENSG00000236939" }, { "id": "NCBI_Gene:157556" }, { "id": "UniProtKB:P0C853" }, { "pages": [ "gene/references" ], "id": "RGD:1603174" }, { "pages": [ "gene" ], "id": "HGNC:28595" }, { "id": "RGD:1603174" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAAT", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "bile acid-CoA:amino acid N-acyltransferase", "basicGeneticEntity": { "synonyms": [ "BACAT", "BACD1", "BAT", "FHCA3", "FLJ20300", "HCHO", "MGC104432", "bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)", "bile acid CoA:amino acid N-acyltransferase", "bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase)", "bile acid-CoA thioesterase", "bile acid-coenzyme a: amino acid n-acyltransferase", "choloyl-CoA hydrolase", "long-chain fatty-acyl-CoA hydrolase" ], "secondaryIds": [ "RGD:735913" ], "genomeLocations": [ { "strand": "-", "endPosition": 101385400, "chromosome": "9", "assembly": "GRCh38", "startPosition": 101354182 } ], "primaryId": "HGNC:932", "crossReferences": [ { "id": "ENSEMBL:ENSG00000136881" }, { "id": "ENSEMBL:ENSG00000276559" }, { "id": "NCBI_Gene:570" }, { "id": "PANTHER:PTHR10824" }, { "id": "UniProtKB:Q14032" }, { "pages": [ "gene/references" ], "id": "RGD:735913" }, { "pages": [ "gene" ], "id": "HGNC:932" }, { "id": "RGD:735913" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BABAM1", "geneSynopsis": "Enables identical protein binding activity. Involved in several processes, including DNA repair-dependent chromatin remodeling; mitotic G2 DNA damage checkpoint signaling; and positive regulation of DNA repair. Located in cytosol and nuclear body. Part of BRCA1-A complex and BRISC complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "BRISC and BRCA1 A complex member 1", "basicGeneticEntity": { "synonyms": [ "BRCA1-A complex subunit MERIT40", "BRISC and BRCA1-A complex member 1", "C19orf62", "FLJ20571", "HSPC142", "MERIT40", "NBA1", "mediator of RAP80 interactions and targeting subunit of 40 kDa", "mediator of Rap80 interactions and targeting 40 kDa", "new component of the BRCA1 A complex", "new component of the BRCA1-A complex", "new component of the BRCAA1 A complex" ], "secondaryIds": [ "RGD:1602893" ], "genomeLocations": [ { "strand": "+", "endPosition": 17281249, "chromosome": "19", "assembly": "GRCh38", "startPosition": 17267343 } ], "primaryId": "HGNC:25008", "crossReferences": [ { "id": "ENSEMBL:ENSG00000105393" }, { "id": "ENSEMBL:ENSG00000269307" }, { "id": "NCBI_Gene:29086" }, { "id": "PANTHER:PTHR15660" }, { "id": "UniProtKB:Q9NWV8" }, { "pages": [ "gene/references" ], "id": "RGD:1602893" }, { "pages": [ "gene" ], "id": "HGNC:25008" }, { "id": "RGD:1602893" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BABAM2", "geneSynopsis": "This gene encodes an anti-apoptotic, death receptor-associated protein that interacts with tumor necrosis factor-receptor-1. The encoded protein acts as an adapter in several protein complexes, including the BRCA1-A complex and the BRISC complex. The BRCA1-A complex possesses ubiquitinase activity and targets sites of double strand DNA breaks, while the BRISC complex exhibits deubiquitinase activity and is involved in mitotic spindle assembly. This gene is upregulated in several types of cancer. [provided by RefSeq, Jun 2016]", "soTermId": "SO:0001217", "name": "BRISC and BRCA1 A complex member 2", "basicGeneticEntity": { "synonyms": [ "BRCA1-A complex subunit BRE", "BRCA1/BRCA2-containing complex subunit 45", "BRCA1/BRCA2-containing complex, subunit 4", "BRCC4", "BRCC45", "BRE", "BRISC and BRCA1-A complex member 2", "brain and reproductive organ-expressed (TNFRSF1A modulator)", "brain and reproductive organ-expressed protein" ], "secondaryIds": [ "RGD:1343026" ], "genomeLocations": [ { "strand": "+", "endPosition": 28338901, "chromosome": "2", "assembly": "GRCh38", "startPosition": 27888667 } ], "primaryId": "HGNC:1106", "crossReferences": [ { "id": "ENSEMBL:ENSG00000158019" }, { "id": "NCBI_Gene:9577" }, { "id": "PANTHER:PTHR15189" }, { "id": "UniProtKB:Q9NXR7" }, { "pages": [ "gene/references" ], "id": "RGD:1343026" }, { "pages": [ "gene" ], "id": "HGNC:1106" }, { "id": "RGD:1343026" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BABAM2-AS1", "geneSynopsis": "INTERACTS WITH aflatoxin B1; diethyl malate; diethyl maleate", "soTermId": "SO:0001263", "name": "BABAM2 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "BRE antisense RNA 1", "BRE-AS1" ], "secondaryIds": [ "RGD:6769959" ], "genomeLocations": [ { "strand": "-", "endPosition": 27891114, "chromosome": "2", "assembly": "GRCh38", "startPosition": 27889456 } ], "primaryId": "HGNC:44171", "crossReferences": [ { "id": "NCBI_Gene:100302650" }, { "pages": [ "gene/references" ], "id": "RGD:6769959" }, { "pages": [ "gene" ], "id": "HGNC:44171" }, { "id": "RGD:6769959" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BABAM2-AS2", "soTermId": "SO:0001263", "name": "BABAM2 antisense RNA 2", "basicGeneticEntity": { "synonyms": [ "AC093690.1", "LOC100505716", "novel transcript", "uncharacterized LOC100505716" ], "secondaryIds": [ "RGD:16552617" ], "genomeLocations": [ { "strand": "-", "endPosition": 28310560, "chromosome": "2", "assembly": "GRCh38", "startPosition": 28307063 } ], "primaryId": "HGNC:40101", "crossReferences": [ { "id": "ENSEMBL:ENSG00000223522" }, { "id": "NCBI_Gene:100505716" }, { "pages": [ "gene/references" ], "id": "RGD:16552617" }, { "pages": [ "gene" ], "id": "HGNC:40101" }, { "id": "RGD:16552617" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BACC1", "geneSynopsis": "Enables identical protein binding activity. Predicted to be involved in chromatin organization. Located in cytosol and nucleoplasm. Part of MLL1 complex and NURF complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "BPTF associated chromatin complex component 1", "basicGeneticEntity": { "synonyms": [ "BAP18", "BPTF associated protein of 18 kDa", "BPTF-associated chromatin complex component 1", "BPTF-associated protein of 18 kDa", "C17orf49", "HEPIS", "MGC49942", "MLL1/MLL complex subunit C17orf49", "chromatin complexes subunit BAP18", "chromosome 17 open reading frame 49", "human embryo lung cellular protein interacting with SARS-CoV nsp-10" ], "secondaryIds": [ "RGD:1606738" ], "genomeLocations": [ { "strand": "+", "endPosition": 7017544, "chromosome": "17", "assembly": "GRCh38", "startPosition": 7014495 } ], "primaryId": "HGNC:28737", "crossReferences": [ { "id": "ENSEMBL:ENSG00000258315" }, { "id": "NCBI_Gene:124944" }, { "id": "PANTHER:PTHR21397" }, { "id": "UniProtKB:Q8IXM2" }, { "pages": [ "gene/references" ], "id": "RGD:1606738" }, { "pages": [ "gene" ], "id": "HGNC:28737" }, { "id": "RGD:1606738" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BACE1", "geneSynopsis": "This gene encodes a member of the peptidase A1 family of aspartic proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protease. This transmembrane protease catalyzes the first step in the formation of amyloid beta peptide from amyloid precursor protein. Amyloid beta peptides are the main constituent of amyloid beta plaques, which accumulate in the brains of human Alzheimer's disease patients. [provided by RefSeq, Nov 2015]", "soTermId": "SO:0001217", "name": "beta-secretase 1", "basicGeneticEntity": { "synonyms": [ "APP beta-secretase", "ASP2", "BACE", "FLJ90568", "HSPC104", "KIAA1149", "asp 2", "aspartyl protease 2", "beta-secretase 1 precursor variant 1", "beta-site APP cleaving enzyme 1", "beta-site APP-cleaving enzyme", "beta-site APP-cleaving enzyme 1", "beta-site amyloid beta A4 precursor protein-cleaving enzyme", "beta-site amyloid precursor protein cleaving enzyme 1", "memapsin-2", "membrane-associated aspartic protease 2", "transmembrane aspartic proteinase Asp2" ], "secondaryIds": [ "RGD:1606566" ], "genomeLocations": [ { "strand": "-", "endPosition": 117316286, "chromosome": "11", "assembly": "GRCh38", "startPosition": 117285232 } ], "primaryId": "HGNC:933", "crossReferences": [ { "id": "ENSEMBL:ENSG00000186318" }, { "id": "NCBI_Gene:23621" }, { "id": "PANTHER:PTHR47965" }, { "id": "UniProtKB:P56817" }, { "pages": [ "gene/references" ], "id": "RGD:1606566" }, { "pages": [ "gene" ], "id": "HGNC:933" }, { "id": "RGD:1606566" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BACE1-AS", "geneSynopsis": "This gene encodes an unspliced long non-coding RNA transcribed from the opposite strand to BACE1. The encoded transcript is thought to form an RNA duplex with BACE1 mRNA thereby regulating its expression and is also thought to promote post-transcriptional feed-forward regulation of BACE1. This may lead to increased levels of beta amyloid and increased senile plaque deposition, and therefore may play a role in the pathophysiology of Alzheimer's disease. [provided by RefSeq, Jan 2015]", "soTermId": "SO:0001263", "name": "BACE1 antisense RNA", "basicGeneticEntity": { "synonyms": [ "BACE1-AS1", "BACE1AS", "FJ573250", "NCRNA00177" ], "secondaryIds": [ "RGD:2881130" ], "genomeLocations": [ { "strand": "+", "endPosition": 117293494, "chromosome": "11", "assembly": "GRCh38", "startPosition": 117288453 } ], "primaryId": "HGNC:37125", "crossReferences": [ { "id": "ENSEMBL:ENSG00000278768" }, { "id": "NCBI_Gene:100379571" }, { "pages": [ "gene/references" ], "id": "RGD:2881130" }, { "pages": [ "gene" ], "id": "HGNC:37125" }, { "id": "RGD:2881130" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BACE2", "geneSynopsis": "This gene encodes an integral membrane glycoprotein that functions as an aspartic protease. The encoded protein cleaves amyloid precursor protein into amyloid beta peptide, which is a critical step in the etiology of Alzheimer's disease and Down syndrome. The protein precursor is further processed into an active mature peptide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]", "soTermId": "SO:0001217", "name": "beta-secretase 2", "basicGeneticEntity": { "synonyms": [ "56 kDa aspartic-like protease", "AEPLC", "ALP56", "ASP1", "ASP21", "BAE2", "CDA13", "CEAP1", "DRAP", "Down syndrome region aspartic protease", "SLCO3A1/BACE2 fusion", "asp 1", "aspartic-like protease 56 kDa", "aspartyl protease 1", "beta secretase 2", "beta-site APP cleaving enzyme 2", "beta-site APP-cleaving enzyme 2", "beta-site amyloid beta A4 precursor protein-cleaving enzyme 2", "beta-site amyloid precursor protein cleaving enzyme 2", "down region aspartic protease", "memapsin 1", "memapsin-1", "membrane-associated aspartic protease 1", "theta-secretase", "transmembrane aspartic proteinase Asp1" ], "secondaryIds": [ "RGD:1350115" ], "genomeLocations": [ { "strand": "+", "endPosition": 41282530, "chromosome": "21", "assembly": "GRCh38", "startPosition": 41167801 } ], "primaryId": "HGNC:934", "crossReferences": [ { "id": "ENSEMBL:ENSG00000182240" }, { "id": "NCBI_Gene:25825" }, { "id": "PANTHER:PTHR47965" }, { "id": "UniProtKB:Q9Y5Z0" }, { "pages": [ "gene/references" ], "id": "RGD:1350115" }, { "pages": [ "gene" ], "id": "HGNC:934" }, { "id": "RGD:1350115" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BACE2-IT1", "soTermId": "SO:0001263", "name": "BACE2 intronic transcript 1", "basicGeneticEntity": { "synonyms": [ "C21orf75", "NCRNA00228", "PRED43" ], "secondaryIds": [ "RGD:1352744" ], "genomeLocations": [ { "strand": "+", "endPosition": 41180626, "chromosome": "21", "assembly": "GRCh38", "startPosition": 41180097 } ], "primaryId": "HGNC:16024", "crossReferences": [ { "id": "ENSEMBL:ENSG00000224388" }, { "id": "NCBI_Gene:282569" }, { "pages": [ "gene/references" ], "id": "RGD:1352744" }, { "pages": [ "gene" ], "id": "HGNC:16024" }, { "id": "RGD:1352744" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BACH1", "geneSynopsis": "This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009]", "soTermId": "SO:0001217", "name": "BACH transcriptional regulator 1", "basicGeneticEntity": { "synonyms": [ "AP000240.4", "BACH-1", "BTB and CNC homolog 1", "BTB and CNC homology 1, basic leucine zipper transcription factor 1", "BTB domain and CNC homolog 1", "BTBD24", "HA2303", "basic region leucine zipper transcriptional regulator BACH1", "transcription regulator protein BACH1" ], "secondaryIds": [ "RGD:1315457" ], "genomeLocations": [ { "strand": "+", "endPosition": 29630751, "chromosome": "21", "assembly": "GRCh38", "startPosition": 29194071 } ], "primaryId": "HGNC:935", "crossReferences": [ { "id": "ENSEMBL:ENSG00000156273" }, { "id": "NCBI_Gene:571" }, { "id": "PANTHER:PTHR46105" }, { "id": "UniProtKB:O14867" }, { "pages": [ "gene/references" ], "id": "RGD:1315457" }, { "pages": [ "gene" ], "id": "HGNC:935" }, { "id": "RGD:1315457" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BACH1-AS1", "geneSynopsis": "INTERACTS WITH copper atom; copper(0); resveratrol", "soTermId": "SO:0001263", "name": "BACH1 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:10399700" ], "genomeLocations": [ { "strand": "-", "endPosition": 29376339, "chromosome": "21", "assembly": "GRCh38", "startPosition": 29370019 } ], "primaryId": "HGNC:40008", "crossReferences": [ { "id": "ENSEMBL:ENSG00000232118" }, { "id": "NCBI_Gene:106478962" }, { "pages": [ "gene/references" ], "id": "RGD:10399700" }, { "pages": [ "gene" ], "id": "HGNC:40008" }, { "id": "RGD:10399700" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BACH1-IT2", "geneSynopsis": "INTERACTS WITH 2-hydroxypropanoic acid; rac-lactic acid", "soTermId": "SO:0001263", "name": "BACH1 intronic transcript 2", "basicGeneticEntity": { "secondaryIds": [ "RGD:6481039" ], "genomeLocations": [ { "strand": "+", "endPosition": 29373980, "chromosome": "21", "assembly": "GRCh38", "startPosition": 29370497 } ], "primaryId": "HGNC:40007", "crossReferences": [ { "id": "ENSEMBL:ENSG00000228817" }, { "id": "NCBI_Gene:100874322" }, { "pages": [ "gene/references" ], "id": "RGD:6481039" }, { "pages": [ "gene" ], "id": "HGNC:40007" }, { "id": "RGD:6481039" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BACH1-IT3", "soTermId": "SO:0001263", "name": "BACH1 intronic transcript 3", "basicGeneticEntity": { "synonyms": [ "C21orf8", "NCRNA00097" ], "secondaryIds": [ "RGD:1349420" ], "genomeLocations": [ { "strand": "+", "endPosition": 29500386, "chromosome": "21", "assembly": "GRCh38", "startPosition": 29496047 } ], "primaryId": "HGNC:16455", "crossReferences": [ { "id": "ENSEMBL:ENSG00000234293" }, { "id": "NCBI_Gene:54147" }, { "pages": [ "gene/references" ], "id": "RGD:1349420" }, { "pages": [ "gene" ], "id": "HGNC:16455" }, { "id": "RGD:1349420" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BACH2", "geneSynopsis": "Enables sequence-specific double-stranded DNA binding activity. Involved in primary adaptive immune response involving T cells and B cells. Located in cytosol and nucleoplasm. Part of RNA polymerase II transcription regulator complex. Implicated in immunodeficiency 60. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "BACH transcriptional regulator 2", "basicGeneticEntity": { "synonyms": [ "BTB and CNC homolog 2", "BTB and CNC homology 1, basic leucine zipper transcription factor 2", "BTB domain and CNC homolog 2", "BTBD25", "IMD60", "transcription regulator protein BACH2" ], "secondaryIds": [ "RGD:1319503" ], "genomeLocations": [ { "strand": "-", "endPosition": 90296923, "chromosome": "6", "assembly": "GRCh38", "startPosition": 89926528 } ], "primaryId": "HGNC:14078", "crossReferences": [ { "id": "ENSEMBL:ENSG00000112182" }, { "id": "NCBI_Gene:60468" }, { "id": "PANTHER:PTHR46105" }, { "id": "UniProtKB:Q9BYV9" }, { "pages": [ "gene/references" ], "id": "RGD:1319503" }, { "pages": [ "gene" ], "id": "HGNC:14078" }, { "id": "RGD:1319503" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAD", "geneSynopsis": "The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming heterodimers with BCL-xL (B-cell lymphoma-extra large) and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform. [provided by RefSeq, Dec 2019]", "soTermId": "SO:0001217", "name": "BCL2 associated agonist of cell death", "basicGeneticEntity": { "synonyms": [ "BBC2", "BCL-X/BCL-2 binding protein", "BCL2-antagonist of cell death", "BCL2-associated agonist of cell death", "BCL2-binding component 6", "BCL2-binding protein", "BCL2L8", "bcl-2 associated death agonist", "bcl-2-binding component 6", "bcl-2-like protein 8", "bcl-XL/Bcl-2-associated death promoter", "bcl2 antagonist of cell death", "bcl2-L-8" ], "secondaryIds": [ "RGD:735541" ], "genomeLocations": [ { "strand": "-", "endPosition": 64291946, "chromosome": "11", "assembly": "GRCh38", "startPosition": 64269828 } ], "primaryId": "HGNC:936", "crossReferences": [ { "id": "ENSEMBL:ENSG00000002330" }, { "id": "NCBI_Gene:572" }, { "id": "PANTHER:PTHR28540" }, { "id": "UniProtKB:Q92934" }, { "pages": [ "gene/references" ], "id": "RGD:735541" }, { "pages": [ "gene" ], "id": "HGNC:936" }, { "id": "RGD:735541" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAG1", "geneSynopsis": "The oncogene BCL2 is a membrane protein that blocks a step in a pathway leading to apoptosis or programmed cell death. The protein encoded by this gene binds to BCL2 and is referred to as BCL2-associated athanogene. It enhances the anti-apoptotic effects of BCL2 and represents a link between growth factor receptors and anti-apoptotic mechanisms. Multiple protein isoforms are encoded by this mRNA through the use of a non-AUG (CUG) initiation codon, and three alternative downstream AUG initiation codons. A related pseudogene has been defined on chromosome X. [provided by RefSeq, Feb 2010]", "soTermId": "SO:0001217", "name": "BAG cochaperone 1", "basicGeneticEntity": { "synonyms": [ "BAG family molecular chaperone regulator 1", "BAG-1", "BCL2 associated athanogene 1", "BCL2-associated athanogene", "Bcl-2 associating athanogene-1 protein", "Bcl-2-binding protein", "HAP", "RAP46", "bcl-2-associated athanogene 1", "glucocortoid receptor-associated protein RAP46", "receptor-associated protein, 46-KD" ], "secondaryIds": [ "RGD:1313091" ], "genomeLocations": [ { "strand": "-", "endPosition": 33264720, "chromosome": "9", "assembly": "GRCh38", "startPosition": 33247820 } ], "primaryId": "HGNC:937", "crossReferences": [ { "id": "ENSEMBL:ENSG00000107262" }, { "id": "NCBI_Gene:573" }, { "id": "PANTHER:PTHR12329" }, { "id": "UniProtKB:Q99933" }, { "pages": [ "gene/references" ], "id": "RGD:1313091" }, { "pages": [ "gene" ], "id": "HGNC:937" }, { "id": "RGD:1313091" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAG1P1", "soTermId": "SO:0000336", "name": "BAG1 pseudogene 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:25824924" ], "genomeLocations": [ { "strand": "+", "endPosition": 38481055, "chromosome": "X", "assembly": "GRCh38", "startPosition": 38479249 } ], "primaryId": "HGNC:54932", "crossReferences": [ { "id": "NCBI_Gene:392442" }, { "pages": [ "gene/references" ], "id": "RGD:25824924" }, { "pages": [ "gene" ], "id": "HGNC:54932" }, { "id": "RGD:25824924" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAG2", "geneSynopsis": "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 predicted BAG2 protein contains 211 amino acids. 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]", "soTermId": "SO:0001217", "name": "BAG cochaperone 2", "basicGeneticEntity": { "synonyms": [ "BAG family molecular chaperone regulator 2", "BAG-2", "BAG-family molecular chaperone regulator-2", "BCL2 associated athanogene 2", "BCL2-associated athanogene 2", "KIAA0576", "MGC149462", "bcl-2-associated athanogene 2", "dJ417I1.2", "dJ417I1.2 (BAG-family molecular chaperone regulator 2)" ], "secondaryIds": [ "RGD:1343744" ], "genomeLocations": [ { "strand": "+", "endPosition": 57189833, "chromosome": "6", "assembly": "GRCh38", "startPosition": 57172319 } ], "primaryId": "HGNC:938", "crossReferences": [ { "id": "ENSEMBL:ENSG00000112208" }, { "id": "NCBI_Gene:9532" }, { "id": "PANTHER:PTHR12334" }, { "id": "UniProtKB:O95816" }, { "pages": [ "gene/references" ], "id": "RGD:1343744" }, { "pages": [ "gene" ], "id": "HGNC:938" }, { "id": "RGD:1343744" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAG3", "geneSynopsis": "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]", "soTermId": "SO:0001217", "name": "BAG cochaperone 3", "basicGeneticEntity": { "synonyms": [ "BAG family molecular chaperone regulator 3", "BAG-3", "BAG-family molecular chaperone regulator-3", "BCL2 associated athanogene 3", "BCL2-associated athanogene 3", "BCL2-binding athanogene 3", "BIS", "Bcl-2-binding protein BIS transcript 2", "CAIR-1", "CMD1HH", "CMT2JJ", "HMND15", "MFM6", "MGC104307", "bcl-2-associated athanogene 3", "bcl-2-binding protein Bis", "docking protein CAIR-1" ], "secondaryIds": [ "RGD:1317192" ], "genomeLocations": [ { "strand": "+", "endPosition": 119677913, "chromosome": "10", "assembly": "GRCh38", "startPosition": 119650879 } ], "primaryId": "HGNC:939", "crossReferences": [ { "id": "ENSEMBL:ENSG00000151929" }, { "id": "NCBI_Gene:9531" }, { "id": "PANTHER:PTHR12329" }, { "id": "UniProtKB:O95817" }, { "pages": [ "gene/references" ], "id": "RGD:1317192" }, { "pages": [ "gene" ], "id": "HGNC:939" }, { "id": "RGD:1317192" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAG4", "geneSynopsis": "The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. This protein was found to be associated with the death domain of tumor necrosis factor receptor type 1 (TNF-R1) and death receptor-3 (DR3), and thereby negatively regulates downstream cell death signaling. The regulatory role of this protein in cell death was demonstrated in epithelial cells which undergo apoptosis while integrin mediated matrix contacts are lost. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]", "soTermId": "SO:0001217", "name": "BAG cochaperone 4", "basicGeneticEntity": { "synonyms": [ "BAG family molecular chaperone regulator 4", "BAG-4", "BAG-family molecular chaperone regulator-4", "BCL2 associated athanogene 4", "BCL2-associated athanogene 4", "DKFZp586O2022", "SODD", "bcl-2-associated athanogene 4", "silencer of death domains" ], "secondaryIds": [ "RGD:1350570" ], "genomeLocations": [ { "strand": "+", "endPosition": 38213301, "chromosome": "8", "assembly": "GRCh38", "startPosition": 38176533 } ], "primaryId": "HGNC:940", "crossReferences": [ { "id": "ENSEMBL:ENSG00000156735" }, { "id": "NCBI_Gene:9530" }, { "id": "PANTHER:PTHR12329" }, { "id": "UniProtKB:O95429" }, { "pages": [ "gene/references" ], "id": "RGD:1350570" }, { "pages": [ "gene" ], "id": "HGNC:940" }, { "id": "RGD:1350570" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAG5", "geneSynopsis": "The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "BAG cochaperone 5", "basicGeneticEntity": { "synonyms": [ "BAG family molecular chaperone regulator 5", "BAG-5", "BAG-family molecular chaperone regulator-5", "BCL2 associated athanogene 5", "BCL2-associated athanogene 5", "CMD2F", "bcl-2-associated athanogene 5" ], "secondaryIds": [ "RGD:1321985" ], "genomeLocations": [ { "strand": "-", "endPosition": 103562657, "chromosome": "14", "assembly": "GRCh38", "startPosition": 103556545 } ], "primaryId": "HGNC:941", "crossReferences": [ { "id": "ENSEMBL:ENSG00000166170" }, { "id": "NCBI_Gene:9529" }, { "id": "PANTHER:PTHR12329" }, { "id": "UniProtKB:Q9UL15" }, { "pages": [ "gene/references" ], "id": "RGD:1321985" }, { "pages": [ "gene" ], "id": "HGNC:941" }, { "id": "RGD:1321985" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAG5-AS1", "soTermId": "SO:0001263", "name": "BAG5 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:616940434" ], "primaryId": "HGNC:58460", "crossReferences": [ { "id": "NCBI_Gene:141858810" }, { "pages": [ "gene/references" ], "id": "RGD:616940434" }, { "pages": [ "gene" ], "id": "HGNC:58460" }, { "id": "RGD:616940434" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAG6", "geneSynopsis": "This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the control of apoptosis. In addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "BAG cochaperone 6", "basicGeneticEntity": { "synonyms": [ "BAG family molecular chaperone regulator 6", "BAG-6", "BAT3", "BCL2 associated athanogene 6", "BCL2-associated athanogene 6", "D6S52E", "G3", "HLA-B associated transcript 3", "HLA-B associated transcript-3", "HLA-B-associated transcript 3", "large proline-rich protein BAG6", "large proline-rich protein BAT3", "scythe" ], "secondaryIds": [ "RGD:733092" ], "genomeLocations": [ { "strand": "-", "endPosition": 31652747, "chromosome": "6", "assembly": "GRCh38", "startPosition": 31638544 } ], "primaryId": "HGNC:13919", "crossReferences": [ { "id": "ENSEMBL:ENSG00000228760" }, { "id": "ENSEMBL:ENSG00000204463" }, { "id": "ENSEMBL:ENSG00000096155" }, { "id": "ENSEMBL:ENSG00000227761" }, { "id": "ENSEMBL:ENSG00000229524" }, { "id": "ENSEMBL:ENSG00000233348" }, { "id": "ENSEMBL:ENSG00000234651" }, { "id": "NCBI_Gene:7917" }, { "id": "PANTHER:PTHR15204" }, { "id": "UniProtKB:P46379" }, { "pages": [ "gene/references" ], "id": "RGD:733092" }, { "pages": [ "gene" ], "id": "HGNC:13919" }, { "id": "RGD:733092" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAGE", "geneSynopsis": "This gene encodes a tumor antigen recognized by autologous cytolytic lymphocytes (CTL). [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "B melanoma antigen", "basicGeneticEntity": { "synonyms": [ "B melanoma antigen 1", "BAGE1", "CT2.1", "antigen MZ2-BA", "cancer/testis antigen 2.1", "cancer/testis antigen family 2, member 1" ], "secondaryIds": [ "RGD:1344125" ], "primaryId": "HGNC:942", "crossReferences": [ { "id": "NCBI_Gene:574" }, { "id": "UniProtKB:Q13072" }, { "pages": [ "gene/references" ], "id": "RGD:1344125" }, { "pages": [ "gene" ], "id": "HGNC:942" }, { "id": "RGD:1344125" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAGE2", "geneSynopsis": "Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0000336", "name": "BAGE family member 2 (pseudogene)", "basicGeneticEntity": { "synonyms": [ "B melanoma antigen 2", "B melanoma antigen family member 2", "B melanoma antigen family, member 2", "BAGE family member 2", "BAGE family member 2, pseudogene", "CT2.2", "cancer/testis antigen 2.2", "cancer/testis antigen family 2, member 2" ], "secondaryIds": [ "RGD:1349446" ], "genomeLocations": [ { "strand": "+", "endPosition": 10518274, "chromosome": "21", "assembly": "GRCh38", "startPosition": 10413497 } ], "primaryId": "HGNC:15723", "crossReferences": [ { "id": "ENSEMBL:ENSG00000187172" }, { "id": "NCBI_Gene:85319" }, { "id": "UniProtKB:Q86Y30" }, { "pages": [ "gene/references" ], "id": "RGD:1349446" }, { "pages": [ "gene" ], "id": "HGNC:15723" }, { "id": "RGD:1349446" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAGE3", "geneSynopsis": "Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "BAGE family member 3", "basicGeneticEntity": { "synonyms": [ "B melanoma antigen 3", "B melanoma antigen family member 3", "B melanoma antigen family, member 3", "CT2.3", "cancer/testis antigen 2.3", "cancer/testis antigen family 2, member 3" ], "secondaryIds": [ "RGD:1351944" ], "primaryId": "HGNC:15728", "crossReferences": [ { "id": "NCBI_Gene:85318" }, { "id": "UniProtKB:Q86Y29" }, { "pages": [ "gene/references" ], "id": "RGD:1351944" }, { "pages": [ "gene" ], "id": "HGNC:15728" }, { "id": "RGD:1351944" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAGE4", "geneSynopsis": "Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "BAGE family member 4", "basicGeneticEntity": { "synonyms": [ "B melanoma antigen 4", "B melanoma antigen family member 4", "B melanoma antigen family, member 4", "CT2.4", "MGC119851", "MGC119852", "MGC119853", "MLL3 pseudogene", "MLL3P", "cancer/testis antigen 2.4", "cancer/testis antigen family 2, member 4" ], "secondaryIds": [ "RGD:1342618" ], "primaryId": "HGNC:15730", "crossReferences": [ { "id": "NCBI_Gene:85317" }, { "id": "UniProtKB:Q86Y28" }, { "pages": [ "gene/references" ], "id": "RGD:1342618" }, { "pages": [ "gene" ], "id": "HGNC:15730" }, { "id": "RGD:1342618" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAGE5", "geneSynopsis": "Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "BAGE family member 5", "basicGeneticEntity": { "synonyms": [ "B melanoma antigen 5", "B melanoma antigen family member 5", "B melanoma antigen family, member 5", "CT2.5", "cancer/testis antigen 2.5", "cancer/testis antigen family 2, member 5" ], "secondaryIds": [ "RGD:1348044" ], "primaryId": "HGNC:15732", "crossReferences": [ { "id": "NCBI_Gene:85316" }, { "id": "UniProtKB:Q86Y27" }, { "pages": [ "gene/references" ], "id": "RGD:1348044" }, { "pages": [ "gene" ], "id": "HGNC:15732" }, { "id": "RGD:1348044" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAHCC1", "geneSynopsis": "Predicted to enable chromatin binding activity. Predicted to act upstream of or within chromatin organization; locomotory behavior; and neuron differentiation. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "BAH domain and coiled-coil containing 1", "basicGeneticEntity": { "synonyms": [ "BAH and coiled-coil domain-containing protein 1", "BAH domain-containing protein 2", "BAHD2", "FLJ23058", "KIAA1447", "bromo adjacent homology domain-containing protein 2" ], "secondaryIds": [ "RGD:1606249" ], "genomeLocations": [ { "strand": "+", "endPosition": 81466331, "chromosome": "17", "assembly": "GRCh38", "startPosition": 81395457 } ], "primaryId": "HGNC:29279", "crossReferences": [ { "id": "ENSEMBL:ENSG00000266074" }, { "id": "NCBI_Gene:57597" }, { "id": "PANTHER:PTHR12505" }, { "id": "UniProtKB:Q9P281" }, { "pages": [ "gene/references" ], "id": "RGD:1606249" }, { "pages": [ "gene" ], "id": "HGNC:29279" }, { "id": "RGD:1606249" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAHD1", "geneSynopsis": "Enables chromatin binding activity. Involved in heterochromatin formation and negative regulation of DNA-templated transcription. Located in nucleoplasm. Part of chromatin silencing complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "bromo adjacent homology domain containing 1", "basicGeneticEntity": { "synonyms": [ "BAH domain-containing protein 1", "KIAA0945", "bromo adjacent homology domain-containing 1 protein" ], "secondaryIds": [ "RGD:1345980" ], "genomeLocations": [ { "strand": "+", "endPosition": 40468242, "chromosome": "15", "assembly": "GRCh38", "startPosition": 40436611 } ], "primaryId": "HGNC:29153", "crossReferences": [ { "id": "ENSEMBL:ENSG00000140320" }, { "id": "NCBI_Gene:22893" }, { "id": "PANTHER:PTHR46576" }, { "id": "UniProtKB:Q8TBE0" }, { "pages": [ "gene/references" ], "id": "RGD:1345980" }, { "pages": [ "gene" ], "id": "HGNC:29153" }, { "id": "RGD:1345980" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAIAP2", "geneSynopsis": "The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This adaptor protein links membrane bound G-proteins to cytoplasmic effector proteins. This protein functions as an insulin receptor tyrosine kinase substrate and suggests a role for insulin in the central nervous system. It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. This protein is involved in lamellipodia and filopodia formation in motile cells and may affect neuronal growth-cone guidance. This protein has also been identified as interacting with the dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]", "soTermId": "SO:0001217", "name": "BAR/IMD domain containing adaptor protein 2", "basicGeneticEntity": { "synonyms": [ "BAI-associated protein 2", "BAI1 associated protein 2", "BAI1-associated protein 2", "BAP2", "BAR/IMD domain-containing adapter protein 2", "DEE120", "FLAF3", "IRS-58", "IRSP53", "IRSp53/58", "WAML", "WASP and MIM like", "brain-specific angiogenesis inhibitor 1-associated protein 2", "fas ligand-associated factor 3", "insulin receptor substrate of 53 kDa", "insulin receptor substrate p53", "insulin receptor substrate p53/p58", "insulin receptor substrate protein of 53 kDa" ], "secondaryIds": [ "RGD:732926" ], "genomeLocations": [ { "strand": "+", "endPosition": 81117434, "chromosome": "17", "assembly": "GRCh38", "startPosition": 81035122 } ], "primaryId": "HGNC:947", "crossReferences": [ { "id": "ENSEMBL:ENSG00000175866" }, { "id": "NCBI_Gene:10458" }, { "id": "PANTHER:PTHR14206" }, { "id": "UniProtKB:Q9UQB8" }, { "pages": [ "gene/references" ], "id": "RGD:732926" }, { "pages": [ "gene" ], "id": "HGNC:947" }, { "id": "RGD:732926" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAIAP2-DT", "geneSynopsis": "INTERACTS WITH (+)-catechin; aflatoxin B1; benzo[a]pyrene", "soTermId": "SO:0001263", "name": "BAIAP2 divergent transcript", "basicGeneticEntity": { "synonyms": [ "BAIAP2 antisense RNA 1 (head to head)", "BAIAP2-AS1", "FLJ14444", "FLJ31993", "FLJ39290", "FLJ42772", "MGC131745", "lnc-BAIAP2" ], "secondaryIds": [ "RGD:2303670" ], "genomeLocations": [ { "strand": "-", "endPosition": 81034881, "chromosome": "17", "assembly": "GRCh38", "startPosition": 81017969 } ], "primaryId": "HGNC:44342", "crossReferences": [ { "id": "ENSEMBL:ENSG00000226137" }, { "id": "NCBI_Gene:440465" }, { "pages": [ "gene/references" ], "id": "RGD:2303670" }, { "pages": [ "gene" ], "id": "HGNC:44342" }, { "id": "RGD:2303670" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAIAP2L1", "geneSynopsis": "This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology 3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli) pedestal formation. [provided by RefSeq, Oct 2009]", "soTermId": "SO:0001217", "name": "BAR/IMD domain containing adaptor protein 2 like 1", "basicGeneticEntity": { "synonyms": [ "BAI1 associated protein 2 like 1", "BAI1-associated protein 2-like 1", "BAI1-associated protein 2-like protein 1", "BAR/IMD domain-containing adapter protein 2-like 1", "FLJ42275", "IRTKS", "brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1", "insulin receptor tyrosine kinase substrate" ], "secondaryIds": [ "RGD:1352215" ], "genomeLocations": [ { "strand": "-", "endPosition": 98401115, "chromosome": "7", "assembly": "GRCh38", "startPosition": 98291648 } ], "primaryId": "HGNC:21649", "crossReferences": [ { "id": "ENSEMBL:ENSG00000006453" }, { "id": "NCBI_Gene:55971" }, { "id": "PANTHER:PTHR14206" }, { "id": "UniProtKB:Q9UHR4" }, { "pages": [ "gene/references" ], "id": "RGD:1352215" }, { "pages": [ "gene" ], "id": "HGNC:21649" }, { "id": "RGD:1352215" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAIAP2L2", "geneSynopsis": "The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012]", "soTermId": "SO:0001217", "name": "BAR/IMD domain containing adaptor protein 2 like 2", "basicGeneticEntity": { "synonyms": [ "BAI1 associated protein 2 like 2", "BAI1-associated protein 2-like 2", "BAI1-associated protein 2-like protein 2", "BAR/IMD domain-containing adapter protein 2-like 2", "FLJ22582", "brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2", "pinkbar", "planar intestinal- and kidney-specific BAR domain protein" ], "secondaryIds": [ "RGD:1342805" ], "genomeLocations": [ { "strand": "-", "endPosition": 38111015, "chromosome": "22", "assembly": "GRCh38", "startPosition": 38084652 } ], "primaryId": "HGNC:26203", "crossReferences": [ { "id": "ENSEMBL:ENSG00000128298" }, { "id": "NCBI_Gene:80115" }, { "id": "PANTHER:PTHR14206" }, { "id": "UniProtKB:Q6UXY1" }, { "pages": [ "gene/references" ], "id": "RGD:1342805" }, { "pages": [ "gene" ], "id": "HGNC:26203" }, { "id": "RGD:1342805" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAIAP3", "geneSynopsis": "This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]", "soTermId": "SO:0001217", "name": "BAI1 associated protein 3", "basicGeneticEntity": { "synonyms": [ "BAI-associated protein 3", "BAI1-associated protein 3", "BAP3", "KIAA0734", "MGC138334", "brain-specific angiogenesis inhibitor I-associated protein 3" ], "secondaryIds": [ "RGD:1318052" ], "genomeLocations": [ { "strand": "+", "endPosition": 1349439, "chromosome": "16", "assembly": "GRCh38", "startPosition": 1333638 } ], "primaryId": "HGNC:948", "crossReferences": [ { "id": "ENSEMBL:ENSG00000007516" }, { "id": "NCBI_Gene:8938" }, { "id": "PANTHER:PTHR45999" }, { "id": "UniProtKB:O94812" }, { "pages": [ "gene/references" ], "id": "RGD:1318052" }, { "pages": [ "gene" ], "id": "HGNC:948" }, { "id": "RGD:1318052" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAK1", "geneSynopsis": "The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "BCL2 antagonist/killer 1", "basicGeneticEntity": { "synonyms": [ "BAK", "BAK-LIKE", "BCL2-antagonist/killer 1", "BCL2-like 7 protein", "BCL2L7", "CDN1", "MGC117255", "MGC3887", "apoptosis regulator BAK", "bcl-2 homologous antagonist/killer", "bcl-2-like protein 7", "bcl2-L-7", "pro-apoptotic protein BAK" ], "secondaryIds": [ "RGD:1353034" ], "genomeLocations": [ { "strand": "-", "endPosition": 33580305, "chromosome": "6", "assembly": "GRCh38", "startPosition": 33572547 } ], "primaryId": "HGNC:949", "crossReferences": [ { "id": "ENSEMBL:ENSG00000030110" }, { "id": "NCBI_Gene:578" }, { "id": "PANTHER:PTHR11256" }, { "id": "UniProtKB:Q16611" }, { "pages": [ "gene/references" ], "id": "RGD:1353034" }, { "pages": [ "gene" ], "id": "HGNC:949" }, { "id": "RGD:1353034" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAK1P1", "geneSynopsis": "INTERACTS WITH aristolochic acid A; sodium arsenite", "soTermId": "SO:0000336", "name": "BCL2 antagonist/killer 1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "BAK2", "BCL2L7P1", "Bak-2", "DKFZp686D0345" ], "secondaryIds": [ "RGD:1343125" ], "genomeLocations": [ { "strand": "-", "endPosition": 32691054, "chromosome": "20", "assembly": "GRCh38", "startPosition": 32688930 } ], "primaryId": "HGNC:996", "crossReferences": [ { "id": "ENSEMBL:ENSG00000175730" }, { "id": "NCBI_Gene:600" }, { "pages": [ "gene/references" ], "id": "RGD:1343125" }, { "pages": [ "gene" ], "id": "HGNC:996" }, { "id": "RGD:1343125" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAK1P2", "soTermId": "SO:0000336", "name": "BCL2 antagonist/killer 1 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "BAK3", "BAK3P", "BCL2L7P2" ], "secondaryIds": [ "RGD:1352173" ], "genomeLocations": [ { "strand": "-", "endPosition": 130547654, "chromosome": "11", "assembly": "GRCh38", "startPosition": 130545543 } ], "primaryId": "HGNC:997", "crossReferences": [ { "id": "ENSEMBL:ENSG00000236616" }, { "id": "NCBI_Gene:601" }, { "pages": [ "gene/references" ], "id": "RGD:1352173" }, { "pages": [ "gene" ], "id": "HGNC:997" }, { "id": "RGD:1352173" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BALR6", "geneSynopsis": "INTERACTS WITH bisphenol A; fulvestrant; permethrin", "soTermId": "SO:0001263", "name": "B-cell acute lymphoblastic leukemia associated long RNA 6", "basicGeneticEntity": { "synonyms": [ "BALR-6", "LOC339862", "uncharacterized LOC339862" ], "secondaryIds": [ "RGD:38630732" ], "genomeLocations": [ { "strand": "+", "endPosition": 18268922, "chromosome": "3", "assembly": "GRCh38", "startPosition": 17962552 } ], "primaryId": "HGNC:27946", "crossReferences": [ { "id": "NCBI_Gene:339862" }, { "pages": [ "gene/references" ], "id": "RGD:38630732" }, { "pages": [ "gene" ], "id": "HGNC:27946" }, { "id": "RGD:38630732" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAMBI", "geneSynopsis": "This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in many developmental and pathological processes. The encoded protein however is a pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling. Similar proteins in frog, mouse and zebrafish function as negative regulators of TGF-beta, which has led to the suggestion that the encoded protein may function to limit the signaling range of the TGF-beta family during early embryogenesis. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "BMP and activin membrane bound inhibitor", "basicGeneticEntity": { "synonyms": [ "BMP and activin membrane-bound inhibitor", "BMP and activin membrane-bound inhibitor homolog", "NMA", "non-metastatic gene A protein", "putative transmembrane protein NMA" ], "secondaryIds": [ "RGD:1346993" ], "genomeLocations": [ { "strand": "+", "endPosition": 28682932, "chromosome": "10", "assembly": "GRCh38", "startPosition": 28677510 } ], "primaryId": "HGNC:30251", "crossReferences": [ { "id": "ENSEMBL:ENSG00000095739" }, { "id": "NCBI_Gene:25805" }, { "id": "PANTHER:PTHR15505" }, { "id": "UniProtKB:Q13145" }, { "pages": [ "gene/references" ], "id": "RGD:1346993" }, { "pages": [ "gene" ], "id": "HGNC:30251" }, { "id": "RGD:1346993" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BANCR", "geneSynopsis": "This gene produces a long non-coding RNA that plays a role in tumor progression and epithelial to mesenchymal transition. This transcript acts through the MAP kinase signaling pathway. [provided by RefSeq, Dec 2017]", "soTermId": "SO:0001263", "name": "BRAF-activated non-protein coding RNA", "basicGeneticEntity": { "synonyms": [ "LINC00586" ], "secondaryIds": [ "RGD:6483484" ], "genomeLocations": [ { "strand": "-", "endPosition": 69311111, "chromosome": "9", "assembly": "GRCh38", "startPosition": 69296671 } ], "primaryId": "HGNC:43877", "crossReferences": [ { "id": "ENSEMBL:ENSG00000278910" }, { "id": "NCBI_Gene:100885775" }, { "pages": [ "gene/references" ], "id": "RGD:6483484" }, { "pages": [ "gene" ], "id": "HGNC:43877" }, { "id": "RGD:6483484" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BANF1", "geneSynopsis": "The protein encoded by this gene was first identified by its ability to protect retroviruses from intramolecular integration and therefore promote intermolecular integration into the host cell genome. The protein forms a homodimer which localizes to both the nucleus and cytoplasm and is specifically associated with chromosomes during mitosis. This protein binds to double stranded DNA in a non-specific manner and also binds to LEM-domain containing proteins of the nuclear envelope. This protein is thought to facilitate nuclear reassembly by binding with both DNA and inner nuclear membrane proteins and thereby recruit chromatin to the nuclear periphery. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Jan 2009]", "soTermId": "SO:0001217", "name": "barrier to autointegration nuclear assembly factor 1", "basicGeneticEntity": { "synonyms": [ "BAF", "BAF nuclear assembly factor 1", "BCRP1", "D14S1460", "MGC111161", "NGPS", "barrier to autointegration factor 1", "barrier-to-autointegration factor", "breakpoint cluster region protein 1" ], "secondaryIds": [ "RGD:1342836" ], "genomeLocations": [ { "strand": "+", "endPosition": 66004170, "chromosome": "11", "assembly": "GRCh38", "startPosition": 66002228 } ], "primaryId": "HGNC:17397", "crossReferences": [ { "id": "ENSEMBL:ENSG00000175334" }, { "id": "NCBI_Gene:8815" }, { "id": "PANTHER:PTHR47507" }, { "id": "UniProtKB:O75531" }, { "pages": [ "gene/references" ], "id": "RGD:1342836" }, { "pages": [ "gene" ], "id": "HGNC:17397" }, { "id": "RGD:1342836" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BANF1P1", "soTermId": "SO:0000336", "name": "BANF1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "BCRG1", "BCRP1", "D14S1460", "D14S1460E", "barrier to autointegration factor 1 pseudogene 1" ], "secondaryIds": [ "RGD:1350560" ], "genomeLocations": [ { "strand": "+", "endPosition": 68937235, "chromosome": "14", "assembly": "GRCh38", "startPosition": 68936547 } ], "primaryId": "HGNC:20252", "crossReferences": [ { "id": "ENSEMBL:ENSG00000258531" }, { "id": "NCBI_Gene:317687" }, { "pages": [ "gene/references" ], "id": "RGD:1350560" }, { "pages": [ "gene" ], "id": "HGNC:20252" }, { "id": "RGD:1350560" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BANF1P2", "geneSynopsis": "INTERACTS WITH benzo[a]pyrene; N-Nitrosopyrrolidine; O-methyleugenol", "soTermId": "SO:0000336", "name": "BANF1 pseudogene 2", "basicGeneticEntity": { "synonyms": [ "BANF1L1", "bA122K13.8", "barrier to autointegration factor 1 pseudogene 2" ], "secondaryIds": [ "RGD:1348743" ], "genomeLocations": [ { "strand": "-", "endPosition": 133344990, "chromosome": "10", "assembly": "GRCh38", "startPosition": 133344275 } ], "primaryId": "HGNC:23426", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230306" }, { "id": "NCBI_Gene:414169" }, { "pages": [ "gene/references" ], "id": "RGD:1348743" }, { "pages": [ "gene" ], "id": "HGNC:23426" }, { "id": "RGD:1348743" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BANF1P3", "soTermId": "SO:0000336", "name": "BANF1 pseudogene 3", "basicGeneticEntity": { "synonyms": [ "barrier to autointegration factor 1 pseudogene 3" ], "secondaryIds": [ "RGD:6482636" ], "genomeLocations": [ { "strand": "-", "endPosition": 230725479, "chromosome": "2", "assembly": "GRCh38", "startPosition": 230724769 } ], "primaryId": "HGNC:43883", "crossReferences": [ { "id": "ENSEMBL:ENSG00000237758" }, { "id": "NCBI_Gene:100505506" }, { "pages": [ "gene/references" ], "id": "RGD:6482636" }, { "pages": [ "gene" ], "id": "HGNC:43883" }, { "id": "RGD:6482636" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BANF1P4", "soTermId": "SO:0000336", "name": "BANF1 pseudogene 4", "basicGeneticEntity": { "synonyms": [ "barrier to autointegration factor 1 pseudogene 4" ], "secondaryIds": [ "RGD:6483733" ], "genomeLocations": [ { "strand": "-", "endPosition": 174757203, "chromosome": "1", "assembly": "GRCh38", "startPosition": 174756478 } ], "primaryId": "HGNC:43884", "crossReferences": [ { "id": "ENSEMBL:ENSG00000223828" }, { "id": "NCBI_Gene:100653423" }, { "pages": [ "gene/references" ], "id": "RGD:6483733" }, { "pages": [ "gene" ], "id": "HGNC:43884" }, { "id": "RGD:6483733" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BANF1P5", "soTermId": "SO:0000336", "name": "BANF1 pseudogene 5", "basicGeneticEntity": { "synonyms": [ "barrier to autointegration factor 1 pseudogene 5" ], "secondaryIds": [ "RGD:6482638" ], "genomeLocations": [ { "strand": "-", "endPosition": 107643079, "chromosome": "7", "assembly": "GRCh38", "startPosition": 107642388 } ], "primaryId": "HGNC:43885", "crossReferences": [ { "id": "ENSEMBL:ENSG00000225935" }, { "id": "NCBI_Gene:101290503" }, { "pages": [ "gene/references" ], "id": "RGD:6482638" }, { "pages": [ "gene" ], "id": "HGNC:43885" }, { "id": "RGD:6482638" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BANF2", "geneSynopsis": "Enables identical protein binding activity. Predicted to be involved in chromosome organization. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "BANF family member 2", "basicGeneticEntity": { "synonyms": [ "BAF-L", "BAF2", "BAFL", "C20orf179", "MGC62093", "MGC72082", "barrier to autointegration factor 2", "barrier-to-autointegration factor 2", "barrier-to-autointegration factor-like protein", "testis secretory sperm-binding protein Li 212a" ], "secondaryIds": [ "RGD:1317375" ], "genomeLocations": [ { "strand": "+", "endPosition": 17735871, "chromosome": "20", "assembly": "GRCh38", "startPosition": 17693672 } ], "primaryId": "HGNC:16172", "crossReferences": [ { "id": "ENSEMBL:ENSG00000125888" }, { "id": "NCBI_Gene:140836" }, { "id": "PANTHER:PTHR47507" }, { "id": "UniProtKB:Q9H503" }, { "pages": [ "gene/references" ], "id": "RGD:1317375" }, { "pages": [ "gene" ], "id": "HGNC:16172" }, { "id": "RGD:1317375" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BANK1", "geneSynopsis": "The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]", "soTermId": "SO:0001217", "name": "B cell scaffold protein with ankyrin repeats 1", "basicGeneticEntity": { "synonyms": [ "B-cell scaffold protein with ankyrin repeats", "B-cell scaffold protein with ankyrin repeats 1", "BANK", "FLJ20706", "FLJ34204" ], "secondaryIds": [ "RGD:1342509" ], "genomeLocations": [ { "strand": "+", "endPosition": 102074812, "chromosome": "4", "assembly": "GRCh38", "startPosition": 101411286 } ], "primaryId": "HGNC:18233", "crossReferences": [ { "id": "ENSEMBL:ENSG00000153064" }, { "id": "NCBI_Gene:55024" }, { "id": "PANTHER:PTHR16267" }, { "id": "UniProtKB:Q8NDB2" }, { "pages": [ "gene/references" ], "id": "RGD:1342509" }, { "pages": [ "gene" ], "id": "HGNC:18233" }, { "id": "RGD:1342509" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BANK1-AS1", "soTermId": "SO:0001263", "name": "BANK1 antisense RNA 1", "basicGeneticEntity": { "secondaryIds": [ "RGD:629021608" ], "primaryId": "HGNC:58860", "crossReferences": [ { "id": "NCBI_Gene:144093409" }, { "pages": [ "gene/references" ], "id": "RGD:629021608" }, { "pages": [ "gene" ], "id": "HGNC:58860" }, { "id": "RGD:629021608" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BANP", "geneSynopsis": "This gene encodes a protein that binds to matrix attachment regions. The protein forms a complex with p53 and negatively regulates p53 transcription, and functions as a tumor suppressor and cell cycle regulator. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]", "soTermId": "SO:0001217", "name": "BTG3 associated nuclear protein", "basicGeneticEntity": { "synonyms": [ "BEN domain containing 1", "BEN domain-containing protein 1", "BEND1", "DKFZp761H172", "FLJ10177", "FLJ20538", "SMAR1", "SMARBP1", "btg3-associated nuclear protein", "scaffold/matrix-associated region-1-binding protein" ], "secondaryIds": [ "RGD:1316673" ], "genomeLocations": [ { "strand": "+", "endPosition": 88077321, "chromosome": "16", "assembly": "GRCh38", "startPosition": 87949127 } ], "primaryId": "HGNC:13450", "crossReferences": [ { "id": "ENSEMBL:ENSG00000172530" }, { "id": "NCBI_Gene:54971" }, { "id": "PANTHER:PTHR16243" }, { "id": "UniProtKB:Q8N9N5" }, { "pages": [ "gene/references" ], "id": "RGD:1316673" }, { "pages": [ "gene" ], "id": "HGNC:13450" }, { "id": "RGD:1316673" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAP1", "geneSynopsis": "This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013]", "soTermId": "SO:0001217", "name": "BRCA1 associated deubiquitinase 1", "basicGeneticEntity": { "synonyms": [ "BRCA1 associated protein 1", "BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)", "BRCA1-associated protein 1", "DKFZp686N04275", "FLJ35406", "FLJ37180", "HUCEP-13", "KIAA0272", "KURIS", "TPDS", "TPDS1", "UBM2", "UCHL2", "UVM2", "cerebral protein 6", "cerebral protein-13", "cerebral protein-6", "hucep-6", "ubiquitin carboxy-terminal hydrolase", "ubiquitin carboxy-terminal hydrolase L2", "ubiquitin carboxyl-terminal hydrolase BAP1" ], "secondaryIds": [ "RGD:1323652" ], "genomeLocations": [ { "strand": "-", "endPosition": 52410008, "chromosome": "3", "assembly": "GRCh38", "startPosition": 52401008 } ], "primaryId": "HGNC:950", "crossReferences": [ { "id": "ENSEMBL:ENSG00000163930" }, { "id": "NCBI_Gene:8314" }, { "id": "PANTHER:PTHR10589" }, { "id": "UniProtKB:Q92560" }, { "pages": [ "gene/references" ], "id": "RGD:1323652" }, { "pages": [ "gene" ], "id": "HGNC:950" }, { "id": "RGD:1323652" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BARD1", "geneSynopsis": "This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]", "soTermId": "SO:0001217", "name": "BRCA1 associated RING domain 1", "basicGeneticEntity": { "synonyms": [ "BARD-1", "BRCA1 associated RING domain 1 isoform alfa", "BRCA1 associated RING domain 1 isoform beta", "BRCA1 associated RING domain 1 isoform delta", "BRCA1 associated RING domain 1 isoform epsilon", "BRCA1 associated RING domain 1 isoform eta", "BRCA1 associated RING domain 1 isoform gamma", "BRCA1 associated RING domain 1 isoform phi", "BRCA1-associated RING domain gene 1", "BRCA1-associated RING domain protein 1", "RING-type E3 ubiquitin transferase BARD1", "truncated BRCA1 associated RING domain 1" ], "secondaryIds": [ "RGD:736238" ], "genomeLocations": [ { "strand": "-", "endPosition": 214809707, "chromosome": "2", "assembly": "GRCh38", "startPosition": 214725646 } ], "primaryId": "HGNC:952", "crossReferences": [ { "id": "ENSEMBL:ENSG00000138376" }, { "id": "NCBI_Gene:580" }, { "id": "PANTHER:PTHR24171" }, { "id": "UniProtKB:Q99728" }, { "pages": [ "gene/references" ], "id": "RGD:736238" }, { "pages": [ "gene" ], "id": "HGNC:952" }, { "id": "RGD:736238" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BARHL1", "geneSynopsis": "Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including negative regulation of outer hair cell apoptotic process; nervous system development; and sensory perception of sound. Predicted to be located in chromatin. Predicted to be active in nucleus. Biomarker of Alzheimer's disease; high grade glioma; and triple-receptor negative breast cancer. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "BarH like homeobox 1", "basicGeneticEntity": { "synonyms": [ "BarH-like homeobox 1", "barH-like 1 homeobox protein" ], "secondaryIds": [ "RGD:733588" ], "genomeLocations": [ { "strand": "+", "endPosition": 132590252, "chromosome": "9", "assembly": "GRCh38", "startPosition": 132582606 } ], "primaryId": "HGNC:953", "crossReferences": [ { "id": "ENSEMBL:ENSG00000125492" }, { "id": "NCBI_Gene:56751" }, { "id": "PANTHER:PTHR24333" }, { "id": "UniProtKB:Q9BZE3" }, { "pages": [ "gene/references" ], "id": "RGD:733588" }, { "pages": [ "gene" ], "id": "HGNC:953" }, { "id": "RGD:733588" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BARHL2", "geneSynopsis": "Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including generation of neurons; positive regulation of macromolecule biosynthetic process; and regulation of axon extension. Predicted to be located in chromatin. Predicted to be active in nucleus. Implicated in oral squamous cell carcinoma. Biomarker of colorectal cancer; oral squamous cell carcinoma; and stomach cancer. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "BarH like homeobox 2", "basicGeneticEntity": { "synonyms": [ "BarH-like homeobox 2", "Barh-like 2", "barH-like 2 homeobox protein" ], "secondaryIds": [ "RGD:1344726" ], "genomeLocations": [ { "strand": "-", "endPosition": 90717302, "chromosome": "1", "assembly": "GRCh38", "startPosition": 90711539 } ], "primaryId": "HGNC:954", "crossReferences": [ { "id": "ENSEMBL:ENSG00000143032" }, { "id": "NCBI_Gene:343472" }, { "id": "PANTHER:PTHR24330" }, { "id": "UniProtKB:Q9NY43" }, { "pages": [ "gene/references" ], "id": "RGD:1344726" }, { "pages": [ "gene" ], "id": "HGNC:954" }, { "id": "RGD:1344726" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BARX1", "geneSynopsis": "This gene encodes a member of the Bar subclass of homeobox transcription factors. Studies of the mouse and chick homolog suggest the encoded protein may play a role in developing teeth and craniofacial mesenchyme of neural crest origin. The protein may also be associated with differentiation of stomach epithelia. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "BARX homeobox 1", "basicGeneticEntity": { "synonyms": [ "BarH-like homeobox 1", "homeobox protein BarH-like 1" ], "secondaryIds": [ "RGD:1322041" ], "genomeLocations": [ { "strand": "-", "endPosition": 93955355, "chromosome": "9", "assembly": "GRCh38", "startPosition": 93951627 } ], "primaryId": "HGNC:955", "crossReferences": [ { "id": "ENSEMBL:ENSG00000131668" }, { "id": "NCBI_Gene:56033" }, { "id": "PANTHER:PTHR24333" }, { "id": "UniProtKB:Q9HBU1" }, { "pages": [ "gene/references" ], "id": "RGD:1322041" }, { "pages": [ "gene" ], "id": "HGNC:955" }, { "id": "RGD:1322041" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BARX1-DT", "geneSynopsis": "INTERACTS WITH aflatoxin B1; formaldehyde", "soTermId": "SO:0001263", "name": "BARX1 divergent transcript", "basicGeneticEntity": { "synonyms": [ "BARX1 antisense RNA 1 (head to head)", "BARX1-AS1" ], "secondaryIds": [ "RGD:8661345" ], "genomeLocations": [ { "strand": "+", "endPosition": 93992799, "chromosome": "9", "assembly": "GRCh38", "startPosition": 93955469 } ], "primaryId": "HGNC:50673", "crossReferences": [ { "id": "ENSEMBL:ENSG00000235601" }, { "id": "NCBI_Gene:101928040" }, { "pages": [ "gene/references" ], "id": "RGD:8661345" }, { "pages": [ "gene" ], "id": "HGNC:50673" }, { "id": "RGD:8661345" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BARX2", "geneSynopsis": "This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogenesis. The encoded protein may also play a role in cancer progression. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "BARX homeobox 2", "basicGeneticEntity": { "synonyms": [ "BarH-like homeobox 2", "MGC133368", "MGC133369", "homeobox protein BarH-like 2" ], "secondaryIds": [ "RGD:1350102" ], "genomeLocations": [ { "strand": "+", "endPosition": 129452279, "chromosome": "11", "assembly": "GRCh38", "startPosition": 129375233 } ], "primaryId": "HGNC:956", "crossReferences": [ { "id": "ENSEMBL:ENSG00000043039" }, { "id": "NCBI_Gene:8538" }, { "id": "PANTHER:PTHR24333" }, { "id": "UniProtKB:Q9UMQ3" }, { "pages": [ "gene/references" ], "id": "RGD:1350102" }, { "pages": [ "gene" ], "id": "HGNC:956" }, { "id": "RGD:1350102" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BASP1", "geneSynopsis": "This gene encodes a membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2012]", "soTermId": "SO:0001217", "name": "brain abundant membrane attached signal protein 1", "basicGeneticEntity": { "synonyms": [ "22 kDa neuronal tissue-enriched acidic protein", "CAP-23", "CAP23", "MGC8555", "NAP-22", "NAP22", "brain abundant, membrane attached signal protein 1", "brain acid soluble protein 1", "brain acid-soluble protein 1", "neuronal axonal membrane protein NAP-22", "neuronal tissue-enriched acidic protein" ], "secondaryIds": [ "RGD:1347703" ], "genomeLocations": [ { "strand": "+", "endPosition": 17276843, "chromosome": "5", "assembly": "GRCh38", "startPosition": 17065598 } ], "primaryId": "HGNC:957", "crossReferences": [ { "id": "ENSEMBL:ENSG00000176788" }, { "id": "NCBI_Gene:10409" }, { "id": "PANTHER:PTHR23212" }, { "id": "UniProtKB:P80723" }, { "pages": [ "gene/references" ], "id": "RGD:1347703" }, { "pages": [ "gene" ], "id": "HGNC:957" }, { "id": "RGD:1347703" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BASP1-AS1", "geneSynopsis": "INTERACTS WITH Aflatoxin B2 alpha; copper atom; copper(0)", "soTermId": "SO:0001263", "name": "BASP1 antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AC091878.1", "FLJ34047", "FLJ43202", "LOC285696", "uncharacterized LOC285696" ], "secondaryIds": [ "RGD:2305921" ], "genomeLocations": [ { "strand": "-", "endPosition": 17217422, "chromosome": "5", "assembly": "GRCh38", "startPosition": 17089296 } ], "primaryId": "HGNC:26609", "crossReferences": [ { "id": "ENSEMBL:ENSG00000215196" }, { "id": "NCBI_Gene:285696" }, { "pages": [ "gene/references" ], "id": "RGD:2305921" }, { "pages": [ "gene" ], "id": "HGNC:26609" }, { "id": "RGD:2305921" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BASP1P1", "soTermId": "SO:0000336", "name": "BASP1 pseudogene 1", "basicGeneticEntity": { "synonyms": [ "brain abundant, membrane attached signal protein 1 pseudogene 1" ], "secondaryIds": [ "RGD:4889636" ], "genomeLocations": [ { "strand": "-", "endPosition": 22898181, "chromosome": "13", "assembly": "GRCh38", "startPosition": 22897030 } ], "primaryId": "HGNC:39418", "crossReferences": [ { "id": "ENSEMBL:ENSG00000230535" }, { "id": "NCBI_Gene:646201" }, { "pages": [ "gene/references" ], "id": "RGD:4889636" }, { "pages": [ "gene" ], "id": "HGNC:39418" }, { "id": "RGD:4889636" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BATF", "geneSynopsis": "The protein encoded by this gene is a nuclear basic leucine zipper protein that belongs to the AP-1/ATF superfamily of transcription factors. The leucine zipper of this protein mediates dimerization with members of the Jun family of proteins. This protein is thought to be a negative regulator of AP-1/ATF transcriptional events. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "basic leucine zipper ATF-like transcription factor", "basicGeneticEntity": { "synonyms": [ "B-ATF", "B-cell-activating transcription factor", "BATF1", "SF-HT-activated gene 2 protein", "SFA-2", "SFA2", "activating transcription factor B", "basic leucine zipper transcription factor, ATF-like", "basic leucine zipper transcriptional factor ATF-like" ], "secondaryIds": [ "RGD:1312643" ], "genomeLocations": [ { "strand": "+", "endPosition": 75546993, "chromosome": "14", "assembly": "GRCh38", "startPosition": 75522455 } ], "primaryId": "HGNC:958", "crossReferences": [ { "id": "ENSEMBL:ENSG00000156127" }, { "id": "NCBI_Gene:10538" }, { "id": "PANTHER:PTHR23351" }, { "id": "UniProtKB:Q16520" }, { "pages": [ "gene/references" ], "id": "RGD:1312643" }, { "pages": [ "gene" ], "id": "HGNC:958" }, { "id": "RGD:1312643" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BATF2", "geneSynopsis": "Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in defense response to protozoan; myeloid dendritic cell differentiation; and regulation of transcription by RNA polymerase II. Part of RNA polymerase II transcription regulator complex. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "basic leucine zipper ATF-like transcription factor 2", "basicGeneticEntity": { "synonyms": [ "B-ATF-2", "MGC20410", "SARI", "basic leucine zipper transcription factor, ATF-like 2", "basic leucine zipper transcriptional factor ATF-like 2", "suppressor of AP-1 regulated by IFN" ], "secondaryIds": [ "RGD:1602989" ], "genomeLocations": [ { "strand": "-", "endPosition": 64997018, "chromosome": "11", "assembly": "GRCh38", "startPosition": 64987945 } ], "primaryId": "HGNC:25163", "crossReferences": [ { "id": "ENSEMBL:ENSG00000168062" }, { "id": "NCBI_Gene:116071" }, { "id": "PANTHER:PTHR23351" }, { "id": "UniProtKB:Q8N1L9" }, { "pages": [ "gene/references" ], "id": "RGD:1602989" }, { "pages": [ "gene" ], "id": "HGNC:25163" }, { "id": "RGD:1602989" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BATF3", "geneSynopsis": "This gene encodes a member of the basic leucine zipper protein family. The encoded protein functions as a transcriptional repressor when heterodimerizing with JUN. The protein may play a role in repression of interleukin-2 and matrix metalloproteinase-1 transcription.[provided by RefSeq, Feb 2009]", "soTermId": "SO:0001217", "name": "basic leucine zipper ATF-like transcription factor 3", "basicGeneticEntity": { "synonyms": [ "21 kDa small nuclear factor isolated from T-cells", "21-kD small nuclear factor isolated from T cells", "B-ATF-3", "FLJ36352", "FLJ37535", "JDP1", "JUNDM1", "Jun dimerization protein 1", "Jun dimerization protein p21SNFT", "SNFT", "basic leucine zipper transcription factor, ATF-like 3", "basic leucine zipper transcriptional factor ATF-like 3" ], "secondaryIds": [ "RGD:1602111" ], "genomeLocations": [ { "strand": "-", "endPosition": 212699840, "chromosome": "1", "assembly": "GRCh38", "startPosition": 212686417 } ], "primaryId": "HGNC:28915", "crossReferences": [ { "id": "ENSEMBL:ENSG00000123685" }, { "id": "NCBI_Gene:55509" }, { "id": "PANTHER:PTHR23351" }, { "id": "UniProtKB:Q9NR55" }, { "pages": [ "gene/references" ], "id": "RGD:1602111" }, { "pages": [ "gene" ], "id": "HGNC:28915" }, { "id": "RGD:1602111" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAX", "geneSynopsis": "The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. The association and the ratio of BAX to BCL2 also determines survival or death of a cell following an apoptotic stimulus. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Dec 2019]", "soTermId": "SO:0001217", "name": "BCL2 associated X, apoptosis regulator", "basicGeneticEntity": { "synonyms": [ "BCL2-associated X protein omega", "BCL2-associated X protein transcript variant delta2", "BCL2L4", "Baxdelta2G9", "Baxdelta2G9omega", "Baxdelta2omega", "apoptosis regulator BAX", "bcl-2-like protein 4", "bcl2-L-4" ], "secondaryIds": [ "RGD:70373" ], "genomeLocations": [ { "strand": "+", "endPosition": 48961798, "chromosome": "19", "assembly": "GRCh38", "startPosition": 48954815 } ], "primaryId": "HGNC:959", "crossReferences": [ { "id": "ENSEMBL:ENSG00000087088" }, { "id": "NCBI_Gene:581" }, { "id": "PANTHER:PTHR11256" }, { "id": "UniProtKB:Q07812" }, { "pages": [ "gene/references" ], "id": "RGD:70373" }, { "pages": [ "gene" ], "id": "HGNC:959" }, { "id": "RGD:70373" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAZ1A", "geneSynopsis": "The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI ('imitation switch') family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010]", "soTermId": "SO:0001217", "name": "bromodomain adjacent to zinc finger domain 1A", "basicGeneticEntity": { "synonyms": [ "ACF1", "ATP-dependent chromatin remodeling protein", "ATP-dependent chromatin-remodeling protein", "ATP-utilizing chromatin assembly and remodeling factor 1", "CHRAC subunit ACF1", "DKFZp586E0518", "FLJ14383", "WALp1", "WCRF180", "bromodomain adjacent to zinc finger domain protein 1A", "bromodomain adjacent to zinc finger domain, 1A", "hACF1", "hWALp1", "williams syndrome transcription factor-related chromatin-remodeling factor 180" ], "secondaryIds": [ "RGD:1314679" ], "genomeLocations": [ { "strand": "-", "endPosition": 34875647, "chromosome": "14", "assembly": "GRCh38", "startPosition": 34752028 } ], "primaryId": "HGNC:960", "crossReferences": [ { "id": "ENSEMBL:ENSG00000198604" }, { "id": "NCBI_Gene:11177" }, { "id": "PANTHER:PTHR46510" }, { "id": "UniProtKB:Q9NRL2" }, { "pages": [ "gene/references" ], "id": "RGD:1314679" }, { "pages": [ "gene" ], "id": "HGNC:960" }, { "id": "RGD:1314679" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAZ1A-AS1", "geneSynopsis": "INTERACTS WITH okadaic acid", "soTermId": "SO:0001263", "name": "BAZ1A antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AL121603.2", "LOC112268124", "novel transcript, antisense to BAZ1A", "uncharacterized LOC112268124" ], "secondaryIds": [ "RGD:16561826" ], "genomeLocations": [ { "strand": "+", "endPosition": 34876463, "chromosome": "14", "assembly": "GRCh38", "startPosition": 34874191 } ], "primaryId": "HGNC:55440", "crossReferences": [ { "id": "ENSEMBL:ENSG00000258738" }, { "id": "NCBI_Gene:112268124" }, { "pages": [ "gene/references" ], "id": "RGD:16561826" }, { "pages": [ "gene" ], "id": "HGNC:55440" }, { "id": "RGD:16561826" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAZ1B", "geneSynopsis": "This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]", "soTermId": "SO:0001217", "name": "bromodomain adjacent to zinc finger domain 1B", "basicGeneticEntity": { "synonyms": [ "WBSCR10", "WBSCR9", "WSTF", "Williams-Beuren syndrome chromosome region 10", "Williams-Beuren syndrome chromosome region 9", "bromodomain adjacent to zinc finger domain protein 1B", "bromodomain adjacent to zinc finger domain, 1B", "hWALp2", "transcription factor WSTF", "tyrosine-protein kinase BAZ1B", "williams syndrome transcription factor", "williams-Beuren syndrome chromosomal region 10 protein", "williams-Beuren syndrome chromosomal region 9 protein" ], "secondaryIds": [ "RGD:1314248" ], "genomeLocations": [ { "strand": "-", "endPosition": 73522293, "chromosome": "7", "assembly": "GRCh38", "startPosition": 73440406 } ], "primaryId": "HGNC:961", "crossReferences": [ { "id": "ENSEMBL:ENSG00000009954" }, { "id": "NCBI_Gene:9031" }, { "id": "PANTHER:PTHR46802" }, { "id": "UniProtKB:Q9UIG0" }, { "pages": [ "gene/references" ], "id": "RGD:1314248" }, { "pages": [ "gene" ], "id": "HGNC:961" }, { "id": "RGD:1314248" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAZ2A", "geneSynopsis": "Enables histone binding activity. Contributes to RNA polymerase I core promoter sequence-specific DNA binding activity. Predicted to be involved in DNA methylation-dependent constitutive heterochromatin formation; negative regulation of transcription by RNA polymerase I; and rDNA heterochromatin formation. Predicted to act upstream of or within heterochromatin formation. Located in cytosol and nuclear speck. [provided by Alliance of Genome Resources, Jul 2025]", "soTermId": "SO:0001217", "name": "bromodomain adjacent to zinc finger domain 2A", "basicGeneticEntity": { "synonyms": [ "DKFZp781B109", "FLJ13768", "FLJ13780", "FLJ45876", "KIAA0314", "TIP5", "TTF-I interacting peptide 5", "TTF-I-interacting protein 5", "WALp3", "bromodomain adjacent to zinc finger domain protein 2A", "bromodomain adjacent to zinc finger domain, 2A", "hWALp3", "transcription termination factor I-interacting protein 5" ], "secondaryIds": [ "RGD:1312828" ], "genomeLocations": [ { "strand": "-", "endPosition": 56638318, "chromosome": "12", "assembly": "GRCh38", "startPosition": 56595596 } ], "primaryId": "HGNC:962", "crossReferences": [ { "id": "ENSEMBL:ENSG00000076108" }, { "id": "NCBI_Gene:11176" }, { "id": "PANTHER:PTHR45915" }, { "id": "UniProtKB:Q9UIF9" }, { "pages": [ "gene/references" ], "id": "RGD:1312828" }, { "pages": [ "gene" ], "id": "HGNC:962" }, { "id": "RGD:1312828" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAZ2B", "geneSynopsis": "This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide screen, suggesting a potential role in transcriptional activation. This gene may be associated with susceptibility to sudden cardiac death (SCD). [provided by RefSeq, Aug 2016]", "soTermId": "SO:0001217", "name": "bromodomain adjacent to zinc finger domain 2B", "basicGeneticEntity": { "synonyms": [ "AC009961.3", "DKFZp434H071", "DKFZp762I0516", "FLJ45644", "WALp4", "bromodomain adjacent to zinc finger domain protein 2B", "bromodomain adjacent to zinc finger domain, 2B", "hWALp4" ], "secondaryIds": [ "RGD:1320334" ], "genomeLocations": [ { "strand": "-", "endPosition": 159712442, "chromosome": "2", "assembly": "GRCh38", "startPosition": 159315312 } ], "primaryId": "HGNC:963", "crossReferences": [ { "id": "ENSEMBL:ENSG00000123636" }, { "id": "ENSEMBL:ENSG00000226266" }, { "id": "NCBI_Gene:29994" }, { "id": "PANTHER:PTHR45915" }, { "id": "UniProtKB:Q9UIF8" }, { "pages": [ "gene/references" ], "id": "RGD:1320334" }, { "pages": [ "gene" ], "id": "HGNC:963" }, { "id": "RGD:1320334" } ], "taxonId": "NCBITaxon:9606" } }, { "symbol": "BAZ2B-AS1", "geneSynopsis": "INTERACTS WITH 17beta-estradiol; okadaic acid", "soTermId": "SO:0001263", "name": "BAZ2B antisense RNA 1", "basicGeneticEntity": { "synonyms": [ "AC009506.1", "AC009506.2", "LOC643072", "lnc-BAZ2B", "novel transcript, antisense to BAZ2B", "uncharacterized LOC643072" ], "secondaryIds": [ "RGD:38604096" ],