psui3905/ncbi_genes_summary huggingface dataset:
AGFG2, Official Symbol AGFG2provided by HGNC Official Full Name ArfGAP with FG repeats 2provided by HGNC Primary source HGNC:HGNC:5177 See related Ensembl:ENSG00000106351 MIM:604019; AllianceGenome:HGNC:5177 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HRBL; RABR Summary 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] Expression Broad expression in salivary gland (RPKM 40.8), skin (RPKM 8.2) and 21 other tissues See more Orthologs mouse all
AGGF1, Official Symbol AGGF1provided by HGNC Official Full Name angiogenic factor with G-patch and FHA domains 1provided by HGNC Primary source HGNC:HGNC:24684 See related Ensembl:ENSG00000164252 MIM:608464; AllianceGenome:HGNC:24684 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as VG5Q; GPATC7; GPATCH7; HSU84971; HUS84971 Summary 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] Expression Ubiquitous expression in testis (RPKM 13.2), brain (RPKM 10.3) and 25 other tissues See more Orthologs mouse all
AGGF1P4, Official Symbol AGGF1P4provided by HGNC Official Full Name angiogenic factor with G-patch and FHA domains 1 pseudogene 4provided by HGNC Primary source HGNC:HGNC:38054 See related Ensembl:ENSG00000261689 AllianceGenome:HGNC:38054 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AGGF1P6, Official Symbol AGGF1P6provided by HGNC Official Full Name angiogenic factor with G-patch and FHA domains 1 pseudogene 6provided by HGNC Primary source HGNC:HGNC:51744 See related Ensembl:ENSG00000259836 AllianceGenome:HGNC:51744 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AGGF1P7, Official Symbol AGGF1P7provided by HGNC Official Full Name angiogenic factor with G-patch and FHA domains 1 pseudogene 7provided by HGNC Primary source HGNC:HGNC:51740 See related Ensembl:ENSG00000260994 AllianceGenome:HGNC:51740 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AGGF1P8, Official Symbol AGGF1P8provided by HGNC Official Full Name angiogenic factor with G-patch and FHA domains 1 pseudogene 8provided by HGNC Primary source HGNC:HGNC:51745 See related Ensembl:ENSG00000261752 AllianceGenome:HGNC:51745 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AGGF1P9, Official Symbol AGGF1P9provided by HGNC Official Full Name angiogenic factor with G-patch and FHA domains 1 pseudogene 9provided by HGNC Primary source HGNC:HGNC:51746 See related Ensembl:ENSG00000260427 AllianceGenome:HGNC:51746 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AGK, Official Symbol AGKprovided by HGNC Official Full Name acylglycerol kinaseprovided by HGNC Primary source HGNC:HGNC:21869 See related Ensembl:ENSG00000006530 MIM:610345; AllianceGenome:HGNC:21869 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MULK; CATC5; CTRCT38; MTDPS10 Summary 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] Expression Ubiquitous expression in heart (RPKM 7.4), brain (RPKM 6.6) and 25 other tissues See more Orthologs mouse all
AGKP1, Official Symbol AGKP1provided by HGNC Official Full Name AGK pseudogene 1provided by HGNC Primary source HGNC:HGNC:37661 See related Ensembl:ENSG00000226555 AllianceGenome:HGNC:37661 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AGKY1
AGKP2, Official Symbol AGKP2provided by HGNC Official Full Name AGK pseudogene 2provided by HGNC Primary source HGNC:HGNC:55132 See related Ensembl:ENSG00000228819 AllianceGenome:HGNC:55132 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AGL, Official Symbol AGLprovided by HGNC Official Full Name amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferaseprovided by HGNC Primary source HGNC:HGNC:321 See related Ensembl:ENSG00000162688 MIM:610860; AllianceGenome:HGNC:321 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GDE Summary 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] Expression Ubiquitous expression in liver (RPKM 9.7), esophagus (RPKM 9.2) and 25 other tissues See more Orthologs mouse all
AGMAT, Official Symbol AGMATprovided by HGNC Official Full Name agmatinaseprovided by HGNC Primary source HGNC:HGNC:18407 See related Ensembl:ENSG00000116771 MIM:617887; AllianceGenome:HGNC:18407 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable agmatinase activity. Predicted to be involved in putrescine biosynthetic process from arginine, using agmatinase. Predicted to be located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in kidney (RPKM 88.3), liver (RPKM 22.6) and 5 other tissues See more Orthologs mouse all
AGMO, Official Symbol AGMOprovided by HGNC Official Full Name alkylglycerol monooxygenaseprovided by HGNC Primary source HGNC:HGNC:33784 See related Ensembl:ENSG00000187546 MIM:613738; AllianceGenome:HGNC:33784 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TMEM195 Summary 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] Expression Biased expression in liver (RPKM 8.7), small intestine (RPKM 2.1) and 4 other tissues See more Orthologs mouse all
AGO1, Official Symbol AGO1provided by HGNC Official Full Name argonaute RISC component 1provided by HGNC Primary source HGNC:HGNC:3262 See related Ensembl:ENSG00000092847 MIM:606228; AllianceGenome:HGNC:3262 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Q99; EIF2C; hAgo1; EIF2C1; GERP95; NEDLBAS Summary 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] Expression Ubiquitous expression in skin (RPKM 4.5), brain (RPKM 3.9) and 25 other tissues See more Orthologs mouse all
AGO2, Official Symbol AGO2provided by HGNC Official Full Name argonaute RISC catalytic component 2provided by HGNC Primary source HGNC:HGNC:3263 See related Ensembl:ENSG00000123908 MIM:606229; AllianceGenome:HGNC:3263 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PPD; Q10; CASC7; EIF2C2; LESKRES; LINC00980 Summary 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] Expression Ubiquitous expression in skin (RPKM 3.3), ovary (RPKM 3.3) and 25 other tissues See more Orthologs mouse all
AGO3, Official Symbol AGO3provided by HGNC Official Full Name argonaute RISC catalytic component 3provided by HGNC Primary source HGNC:HGNC:18421 See related Ensembl:ENSG00000126070 MIM:607355; AllianceGenome:HGNC:18421 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EIF2C3 Summary 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] Expression Ubiquitous expression in skin (RPKM 1.4), testis (RPKM 1.4) and 25 other tissues See more Orthologs mouse all
AGO4, Official Symbol AGO4provided by HGNC Official Full Name argonaute RISC component 4provided by HGNC Primary source HGNC:HGNC:18424 See related Ensembl:ENSG00000134698 MIM:607356; AllianceGenome:HGNC:18424 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EIF2C4 Summary 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] Expression Ubiquitous expression in skin (RPKM 10.1), bone marrow (RPKM 8.1) and 25 other tissues See more Orthologs mouse all
AGPAT1, Official Symbol AGPAT1provided by HGNC Official Full Name 1-acylglycerol-3-phosphate O-acyltransferase 1provided by HGNC Primary source HGNC:HGNC:324 See related Ensembl:ENSG00000204310 MIM:603099; AllianceGenome:HGNC:324 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as G15; LPAATA; LPLAT1; 1-AGPAT1; LPAAT-alpha Summary 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] Expression Ubiquitous expression in testis (RPKM 25.5), brain (RPKM 21.6) and 25 other tissues See more Orthologs mouse all
AGPAT2, Official Symbol AGPAT2provided by HGNC Official Full Name 1-acylglycerol-3-phosphate O-acyltransferase 2provided by HGNC Primary source HGNC:HGNC:325 See related Ensembl:ENSG00000169692 MIM:603100; AllianceGenome:HGNC:325 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BSCL; BSCL1; LPAAB; LPLAT2; 1-AGPAT2; LPAAT-beta Summary 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] Expression Biased expression in fat (RPKM 221.4), small intestine (RPKM 55.9) and 8 other tissues See more Orthologs mouse all
AGPAT3, Official Symbol AGPAT3provided by HGNC Official Full Name 1-acylglycerol-3-phosphate O-acyltransferase 3provided by HGNC Primary source HGNC:HGNC:326 See related Ensembl:ENSG00000160216 MIM:614794; AllianceGenome:HGNC:326 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LPAAT3; LPLAT3; 1-AGPAT 3; LPAAT-GAMMA1 Summary 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] Expression Ubiquitous expression in kidney (RPKM 24.0), brain (RPKM 12.1) and 25 other tissues See more Orthologs mouse all
AGPAT4, Official Symbol AGPAT4provided by HGNC Official Full Name 1-acylglycerol-3-phosphate O-acyltransferase 4provided by HGNC Primary source HGNC:HGNC:20885 See related Ensembl:ENSG00000026652 MIM:614795; AllianceGenome:HGNC:20885 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LPAAT4; LPLAT4; 1-AGPAT4; dJ473J16.2; LPAAT-delta Summary 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] Expression Broad expression in brain (RPKM 9.7), placenta (RPKM 3.7) and 18 other tissues See more Orthologs mouse all
AGPAT5, Official Symbol AGPAT5provided by HGNC Official Full Name 1-acylglycerol-3-phosphate O-acyltransferase 5provided by HGNC Primary source HGNC:HGNC:20886 See related Ensembl:ENSG00000155189 MIM:614796; AllianceGenome:HGNC:20886 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LPAATE; LPLAT5; 1AGPAT5 Summary 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] Expression Broad expression in testis (RPKM 16.0), brain (RPKM 13.8) and 23 other tissues See more Orthologs mouse all
AGPAT5P1, Official Symbol AGPAT5P1provided by HGNC Official Full Name 1-acylglycerol-3-phosphate O-acyltransferase 5 pseudogene 1provided by HGNC Primary source HGNC:HGNC:37709 See related Ensembl:ENSG00000234652 AllianceGenome:HGNC:37709 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AGPS, Official Symbol AGPSprovided by HGNC Official Full Name alkylglycerone phosphate synthaseprovided by HGNC Primary source HGNC:HGNC:327 See related Ensembl:ENSG00000018510 MIM:603051; AllianceGenome:HGNC:327 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ADAS; ADPS; RCDP3; ADAP-S; ADHAPS; ALDHPSY Summary 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] Expression Ubiquitous expression in colon (RPKM 7.8), endometrium (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
AGR2, Official Symbol AGR2provided by HGNC Official Full Name anterior gradient 2, protein disulphide isomerase family memberprovided by HGNC Primary source HGNC:HGNC:328 See related Ensembl:ENSG00000106541 MIM:606358; AllianceGenome:HGNC:328 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AG2; AG-2; HPC8; GOB-4; HAG-2; RIFTD; XAG-2; PDIA17; HEL-S-116 Summary 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] Expression Biased expression in stomach (RPKM 530.9), colon (RPKM 321.4) and 6 other tissues See more Orthologs mouse all
AGR3, Official Symbol AGR3provided by HGNC Official Full Name anterior gradient 3, protein disulphide isomerase family memberprovided by HGNC Primary source HGNC:HGNC:24167 See related Ensembl:ENSG00000173467 MIM:609482; AllianceGenome:HGNC:24167 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AG3; AG-3; HAG3; hAG-3; BCMP11; PDIA18 Summary 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] Expression Biased expression in small intestine (RPKM 65.6), colon (RPKM 63.5) and 4 other tissues See more Orthologs mouse all
AGRN, Official Symbol AGRNprovided by HGNC Official Full Name agrinprovided by HGNC Primary source HGNC:HGNC:329 See related Ensembl:ENSG00000188157 MIM:103320; AllianceGenome:HGNC:329 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CMS8; AGRIN; CMSPPD Summary 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] Expression Broad expression in kidney (RPKM 31.2), lung (RPKM 13.9) and 21 other tissues See more Orthologs mouse all
AGRP, Official Symbol AGRPprovided by HGNC Official Full Name agouti related neuropeptideprovided by HGNC Primary source HGNC:HGNC:330 See related Ensembl:ENSG00000159723 MIM:602311; AllianceGenome:HGNC:330 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ART; AGRT; ASIP2 Summary 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] Expression Biased expression in adrenal (RPKM 1.6), lung (RPKM 0.8) and 5 other tissues See more Orthologs mouse all
AGT, Official Symbol AGTprovided by HGNC Official Full Name angiotensinogenprovided by HGNC Primary source HGNC:HGNC:333 See related Ensembl:ENSG00000135744 MIM:106150; AllianceGenome:HGNC:333 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ANHU; hFLT1; SERPINA8 Summary 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] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process. Expression Biased expression in liver (RPKM 264.6), brain (RPKM 76.5) and 3 other tissues See more Orthologs mouse all
AGTPBP1, Official Symbol AGTPBP1provided by HGNC Official Full Name ATP/GTP binding carboxypeptidase 1provided by HGNC Primary source HGNC:HGNC:17258 See related Ensembl:ENSG00000135049 MIM:606830; AllianceGenome:HGNC:17258 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CCP1; NNA1; CONDCA Summary 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] Expression Broad expression in bone marrow (RPKM 7.2), brain (RPKM 4.8) and 23 other tissues See more Orthologs mouse all
AGTR1, Official Symbol AGTR1provided by HGNC Official Full Name angiotensin II receptor type 1provided by HGNC Primary source HGNC:HGNC:336 See related Ensembl:ENSG00000144891 MIM:106165; AllianceGenome:HGNC:336 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AT1; AG2S; AT1B; AT1R; ATR1; AT1AR; AT1BR; AT2R1; HAT1R; AGTR1B Summary 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] Expression Biased expression in placenta (RPKM 58.2), fat (RPKM 27.9) and 9 other tissues See more Orthologs mouse all
AGTR2, Official Symbol AGTR2provided by HGNC Official Full Name angiotensin II receptor type 2provided by HGNC Primary source HGNC:HGNC:338 See related Ensembl:ENSG00000180772 MIM:300034; AllianceGenome:HGNC:338 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AT2; ATGR2; MRX88 Summary 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] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process. Expression Biased expression in lung (RPKM 5.8), endometrium (RPKM 4.4) and 2 other tissues See more Orthologs mouse all
AGTRAP, Official Symbol AGTRAPprovided by HGNC Official Full Name angiotensin II receptor associated proteinprovided by HGNC Primary source HGNC:HGNC:13539 See related Ensembl:ENSG00000177674 MIM:608729; AllianceGenome:HGNC:13539 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATRAP Summary 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] Expression Ubiquitous expression in bone marrow (RPKM 38.0), prostate (RPKM 28.1) and 25 other tissues See more Orthologs mouse all
AGXT, Official Symbol AGXTprovided by HGNC Official Full Name alanine--glyoxylate aminotransferaseprovided by HGNC Primary source HGNC:HGNC:341 See related Ensembl:ENSG00000172482 MIM:604285; AllianceGenome:HGNC:341 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AGT; PH1; SPT; AGT1; SPAT; TLH6; AGXT1; Ser-PyrAT Summary 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] Expression Restricted expression toward liver (RPKM 387.9) See more Orthologs mouse all
AGXT2, Official Symbol AGXT2provided by HGNC Official Full Name alanine--glyoxylate aminotransferase 2provided by HGNC Primary source HGNC:HGNC:14412 See related Ensembl:ENSG00000113492 MIM:612471; AllianceGenome:HGNC:14412 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AGT2; BAIBA; DAIBAT Summary 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] Expression Biased expression in kidney (RPKM 69.3) and liver (RPKM 24.9) See more Orthologs mouse all
AHCTF1, Official Symbol AHCTF1provided by HGNC Official Full Name AT-hook containing transcription factor 1provided by HGNC Primary source HGNC:HGNC:24618 See related Ensembl:ENSG00000153207 MIM:610853; AllianceGenome:HGNC:24618 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ELYS; MST108; TMBS62; MSTP108 Summary Predicted to enable DNA binding activity. Involved in nuclear pore complex assembly and regulation of cytokinesis. Located in nuclear membrane. Colocalizes with chromatin; kinetochore; and nuclear pore outer ring. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 25.0), bone marrow (RPKM 11.9) and 25 other tissues See more Orthologs mouse all
AHCY, Official Symbol AHCYprovided by HGNC Official Full Name adenosylhomocysteinaseprovided by HGNC Primary source HGNC:HGNC:343 See related Ensembl:ENSG00000101444 MIM:180960; AllianceGenome:HGNC:343 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SAHH; adoHcyase Summary 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] Expression Ubiquitous expression in kidney (RPKM 29.2), thyroid (RPKM 22.9) and 25 other tissues See more Orthologs mouse all
AHCYL1, Official Symbol AHCYL1provided by HGNC Official Full Name adenosylhomocysteinase like 1provided by HGNC Primary source HGNC:HGNC:344 See related Ensembl:ENSG00000168710 MIM:607826; AllianceGenome:HGNC:344 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DCAL; IRBIT; PPP1R78; PRO0233; XPVKONA Summary 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] Expression Ubiquitous expression in brain (RPKM 81.1), duodenum (RPKM 50.1) and 25 other tissues See more Orthologs mouse all
AHCYL2, Official Symbol AHCYL2provided by HGNC Official Full Name adenosylhomocysteinase like 2provided by HGNC Primary source HGNC:HGNC:22204 See related Ensembl:ENSG00000158467 MIM:616520; AllianceGenome:HGNC:22204 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IRBIT2; ADOHCYASE3 Summary 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] Expression Broad expression in colon (RPKM 37.6), thyroid (RPKM 17.8) and 21 other tissues See more Orthologs mouse all
AHCYP2, Official Symbol AHCYP2provided by HGNC Official Full Name adenosylhomocysteinase pseudogene 2provided by HGNC Primary source HGNC:HGNC:44994 See related Ensembl:ENSG00000238181 AllianceGenome:HGNC:44994 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AHCYP3, Official Symbol AHCYP3provided by HGNC Official Full Name adenosylhomocysteinase pseudogene 3provided by HGNC Primary source HGNC:HGNC:44995 See related Ensembl:ENSG00000233955 AllianceGenome:HGNC:44995 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AHCYP4, Official Symbol AHCYP4provided by HGNC Official Full Name adenosylhomocysteinase pseudogene 4provided by HGNC Primary source HGNC:HGNC:44996 See related Ensembl:ENSG00000232992 AllianceGenome:HGNC:44996 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AHCYP5, Official Symbol AHCYP5provided by HGNC Official Full Name adenosylhomocysteinase pseudogene 5provided by HGNC Primary source HGNC:HGNC:44997 See related Ensembl:ENSG00000213107 AllianceGenome:HGNC:44997 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AHCYP7, Official Symbol AHCYP7provided by HGNC Official Full Name adenosylhomocysteinase pseudogene 7provided by HGNC Primary source HGNC:HGNC:44999 See related Ensembl:ENSG00000259465 AllianceGenome:HGNC:44999 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AHDC1, Official Symbol AHDC1provided by HGNC Official Full Name AT-hook DNA binding motif containing 1provided by HGNC Primary source HGNC:HGNC:25230 See related Ensembl:ENSG00000126705 MIM:615790; AllianceGenome:HGNC:25230 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MRD25; XIGIS Summary 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] Expression Ubiquitous expression in spleen (RPKM 6.6), endometrium (RPKM 6.1) and 25 other tissues See more Orthologs mouse all
AHI1, Official Symbol AHI1provided by HGNC Official Full Name Abelson helper integration site 1provided by HGNC Primary source HGNC:HGNC:21575 See related Ensembl:ENSG00000135541 MIM:608894; AllianceGenome:HGNC:21575 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ORF1; AHI-1; JBTS3; dJ71N10.1 Summary 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] Expression Broad expression in testis (RPKM 9.3), adrenal (RPKM 5.6) and 25 other tissues See more Orthologs mouse all
AHNAK, Official Symbol AHNAKprovided by HGNC Official Full Name AHNAK nucleoproteinprovided by HGNC Primary source HGNC:HGNC:347 See related Ensembl:ENSG00000124942 MIM:103390; AllianceGenome:HGNC:347 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PM227; AHNAK1; AHNAKRS Summary 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] Expression Ubiquitous expression in skin (RPKM 158.4), fat (RPKM 150.5) and 24 other tissues See more Orthologs mouse all
AHNAK2, Official Symbol AHNAK2provided by HGNC Official Full Name AHNAK nucleoprotein 2provided by HGNC Primary source HGNC:HGNC:20125 See related Ensembl:ENSG00000185567 MIM:608570; AllianceGenome:HGNC:20125 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C14orf78 Summary 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] Expression Biased expression in skin (RPKM 54.4), esophagus (RPKM 13.7) and 2 other tissues See more Orthologs mouse all
AHR, Official Symbol AHRprovided by HGNC Official Full Name aryl hydrocarbon receptorprovided by HGNC Primary source HGNC:HGNC:348 See related Ensembl:ENSG00000106546 MIM:600253; AllianceGenome:HGNC:348 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RP85; bHLHe76 Summary 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] Expression Ubiquitous expression in urinary bladder (RPKM 37.2), gall bladder (RPKM 28.4) and 24 other tissues See more Orthologs mouse all
AHRR, Official Symbol AHRRprovided by HGNC Official Full Name aryl hydrocarbon receptor repressorprovided by HGNC Primary source HGNC:HGNC:346 See related Ensembl:ENSG00000063438 MIM:606517; AllianceGenome:HGNC:346 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AHH; AHHR; bHLHe77 Summary 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] Expression Broad expression in testis (RPKM 4.1), spleen (RPKM 2.9) and 21 other tissues See more Orthologs mouse all
AHSA1, Official Symbol AHSA1provided by HGNC Official Full Name activator of HSP90 ATPase activity 1provided by HGNC Primary source HGNC:HGNC:1189 See related Ensembl:ENSG00000100591 MIM:608466; AllianceGenome:HGNC:1189 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as p38; AHA1; hAha1; C14orf3 Summary Enables ATPase activator activity; Hsp90 protein binding activity; and chaperone binding activity. Involved in positive regulation of ATPase activity. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 60.3), adrenal (RPKM 41.8) and 25 other tissues See more Orthologs mouse all
AHSA2P, Official Symbol AHSA2Pprovided by HGNC Official Full Name activator of HSP90 ATPase homolog 2, pseudogeneprovided by HGNC Primary source HGNC:HGNC:20437 See related Ensembl:ENSG00000173209 AllianceGenome:HGNC:20437 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AHA1; Hch1; AHSA2 Summary Predicted to enable ATPase activator activity. Predicted to be involved in positive regulation of ATPase activity and protein folding. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 24.2), lymph node (RPKM 21.9) and 25 other tissues See more Orthologs all