psui3905/ncbi_genes_summary huggingface dataset:
GRM1, Official Symbol GRM1provided by HGNC Official Full Name glutamate metabotropic receptor 1provided by HGNC Primary source HGNC:HGNC:4593 See related Ensembl:ENSG00000152822 MIM:604473; AllianceGenome:HGNC:4593 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 MGLU1; SCA44; GPRC1A; MGLUR1; SCAR13; PPP1R85 Summary This gene encodes a metabotropic glutamate receptor that functions by activating phospholipase C. L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The canonical alpha isoform of the encoded protein is a disulfide-linked homodimer whose activity is mediated by a G-protein-coupled phosphatidylinositol-calcium second messenger system. This gene may be associated with many disease states, including schizophrenia, bipolar disorder, depression, and breast cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] Expression Biased expression in brain (RPKM 2.8), heart (RPKM 1.1) and 2 other tissues See more Orthologs mouse all
GRM2, Official Symbol GRM2provided by HGNC Official Full Name glutamate metabotropic receptor 2provided by HGNC Primary source HGNC:HGNC:4594 See related Ensembl:ENSG00000164082 MIM:604099; AllianceGenome:HGNC:4594 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 GLUR2; mGlu2; GPRC1B; MGLUR2 Summary L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017] Expression Biased expression in testis (RPKM 2.8), brain (RPKM 2.2) and 4 other tissues See more Orthologs mouse all
GRM3, Official Symbol GRM3provided by HGNC Official Full Name glutamate metabotropic receptor 3provided by HGNC Primary source HGNC:HGNC:4595 See related Ensembl:ENSG00000198822 MIM:601115; AllianceGenome:HGNC:4595 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 GLUR3; mGlu3; GPRC1C; MGLUR3 Summary L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq, Jul 2008] Expression Restricted expression toward brain (RPKM 15.9) See more Orthologs mouse all
GRM3-AS1, Official Symbol GRM3-AS1provided by HGNC Official Full Name GRM3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40264 See related AllianceGenome:HGNC:40264 Gene type ncRNA RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
GRM4, Official Symbol GRM4provided by HGNC Official Full Name glutamate metabotropic receptor 4provided by HGNC Primary source HGNC:HGNC:4596 See related Ensembl:ENSG00000124493 MIM:604100; AllianceGenome:HGNC:4596 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 mGlu4; GPRC1D; MGLUR4 Summary L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] Expression Low expression observed in reference dataset See more Orthologs mouse all
GRM5, Official Symbol GRM5provided by HGNC Official Full Name glutamate metabotropic receptor 5provided by HGNC Primary source HGNC:HGNC:4597 See related Ensembl:ENSG00000168959 MIM:604102; AllianceGenome:HGNC:4597 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 mGlu5; GPRC1E; MGLUR5; PPP1R86 Summary This gene encodes a member of the G-protein coupled receptor 3 protein family. The encoded protein is a metabatropic glutamate receptor, whose signaling activates a phosphatidylinositol-calcium second messenger system. This protein may be involved in the regulation of neural network activity and synaptic plasticity. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. A pseudogene of this gene has been defined on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] Expression Restricted expression toward brain (RPKM 10.2) See more Orthologs mouse all
GRM5-AS1, Official Symbol GRM5-AS1provided by HGNC Official Full Name GRM5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40265 See related Ensembl:ENSG00000255082 AllianceGenome:HGNC:40265 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward brain (RPKM 11.3) See more
GRM6, Official Symbol GRM6provided by HGNC Official Full Name glutamate metabotropic receptor 6provided by HGNC Primary source HGNC:HGNC:4598 See related Ensembl:ENSG00000113262 MIM:604096; AllianceGenome:HGNC:4598 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 mGlu6; CSNB1B; GPRC1F; MGLUR6 Summary L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Mutations in this gene result in congenital stationary night blindness type 1B. [provided by RefSeq, May 2018] Expression Low expression observed in reference dataset See more Orthologs mouse all
GRM7, Official Symbol GRM7provided by HGNC Official Full Name glutamate metabotropic receptor 7provided by HGNC Primary source HGNC:HGNC:4599 See related Ensembl:ENSG00000196277 MIM:604101; AllianceGenome:HGNC:4599 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 GLUR7; MGLU7; GPRC1G; MGLUR7; NEDSHBA; PPP1R87 Summary L-glutamate is the major excitatory neurotransmitter in the central nervous system, and it activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors that have been divided into three groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5, and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3, while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
GRM7-AS1, Official Symbol GRM7-AS1provided by HGNC Official Full Name GRM7 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40267 See related Ensembl:ENSG00000236202 AllianceGenome:HGNC:40267 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
GRM7-AS2, Official Symbol GRM7-AS2provided by HGNC Official Full Name GRM7 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:40266 See related Ensembl:ENSG00000237665 AllianceGenome:HGNC:40266 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
GRM7-AS3, Official Symbol GRM7-AS3provided by HGNC Official Full Name GRM7 antisense RNA 3provided by HGNC Primary source HGNC:HGNC:42444 See related Ensembl:ENSG00000226258 AllianceGenome:HGNC:42444 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 2.4) See more
GRM8, Official Symbol GRM8provided by HGNC Official Full Name glutamate metabotropic receptor 8provided by HGNC Primary source HGNC:HGNC:4600 See related Ensembl:ENSG00000179603 MIM:601116; AllianceGenome:HGNC:4600 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 GLUR8; mGlu8; GPRC1H; MGLUR8 Summary L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 1.2), testis (RPKM 1.0) and 9 other tissues See more Orthologs mouse all
GRM8-AS1, Official Symbol GRM8-AS1provided by HGNC Official Full Name GRM8 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40268 See related Ensembl:ENSG00000236340 AllianceGenome:HGNC:40268 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 1.6) See more
GRN, Official Symbol GRNprovided by HGNC Official Full Name granulin precursorprovided by HGNC Primary source HGNC:HGNC:4601 See related Ensembl:ENSG00000030582 MIM:138945; AllianceGenome:HGNC:4601 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 GEP; GP88; PEPI; PGRN; CLN11; PCDGF Summary Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein, progranulin, is also called proepithelin and PC cell-derived growth factor. Cleavage of the signal peptide produces mature granulin which can be further cleaved into a variety of active, 6 kDa peptides. These smaller cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with granulins A and B, respectively. Both the peptides and intact granulin protein regulate cell growth. However, different members of the granulin protein family may act as inhibitors, stimulators, or have dual actions on cell growth. Granulin family members are important in normal development, wound healing, and tumorigenesis. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 141.7), lung (RPKM 139.8) and 25 other tissues See more Orthologs mouse all
GRP, Official Symbol GRPprovided by HGNC Official Full Name gastrin releasing peptideprovided by HGNC Primary source HGNC:HGNC:4605 See related Ensembl:ENSG00000134443 MIM:137260; AllianceGenome:HGNC:4605 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 BN; GRP-10; proGRP; preproGRP Summary This gene encodes a member of the bombesin-like family of gastrin-releasing peptides. The encoded preproprotein is proteolytically processed to generate two peptides, gastrin-releasing peptide and neuromedin-C. These peptides regulate numerous functions of the gastrointestinal and central nervous systems, including release of gastrointestinal hormones, smooth muscle cell contraction, and epithelial cell proliferation. These peptides are also likely to play a role in human cancers of the lung, colon, stomach, pancreas, breast, and prostate. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016] Expression Low expression observed in reference dataset See more Orthologs mouse all
GRPEL1, Official Symbol GRPEL1provided by HGNC Official Full Name GrpE like 1, mitochondrialprovided by HGNC Primary source HGNC:HGNC:19696 See related Ensembl:ENSG00000109519 MIM:606173; AllianceGenome:HGNC:19696 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 GrpE; HMGE; mt-GrpE#1 Summary Enables identical protein binding activity and unfolded protein binding activity. Predicted to be involved in protein import into mitochondrial matrix. Located in mitochondrial matrix and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 26.2), kidney (RPKM 13.9) and 25 other tissues See more Orthologs mouse all
GRPEL2, Official Symbol GRPEL2provided by HGNC Official Full Name GrpE like 2, mitochondrialprovided by HGNC Primary source HGNC:HGNC:21060 See related Ensembl:ENSG00000164284 MIM:618545; AllianceGenome:HGNC:21060 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 Mt-GrpE#2 Summary Predicted to enable adenyl-nucleotide exchange factor activity and unfolded protein binding activity. Predicted to be involved in protein import into mitochondrial matrix. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 15.4), fat (RPKM 4.6) and 24 other tissues See more Orthologs mouse all
GRPEL2-AS1, Official Symbol GRPEL2-AS1provided by HGNC Official Full Name GRPEL2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:48999 See related Ensembl:ENSG00000253618 AllianceGenome:HGNC:48999 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in esophagus (RPKM 7.8), testis (RPKM 1.6) and 23 other tissues See more
GRPEL2P1, Official Symbol GRPEL2P1provided by HGNC Official Full Name GRPEL2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:41969 See related AllianceGenome:HGNC:41969 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GRPEL2P2, Official Symbol GRPEL2P2provided by HGNC Official Full Name GRPEL2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:41970 See related AllianceGenome:HGNC:41970 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GRPR, Official Symbol GRPRprovided by HGNC Official Full Name gastrin releasing peptide receptorprovided by HGNC Primary source HGNC:HGNC:4609 See related Ensembl:ENSG00000126010 MIM:305670; AllianceGenome:HGNC:4609 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 BB2; BB2R; BRS2 Summary Gastrin-releasing peptide (GRP) regulates numerous functions of the gastrointestinal and central nervous systems, including release of gastrointestinal hormones, smooth muscle cell contraction, and epithelial cell proliferation and is a potent mitogen for neoplastic tissues. The effects of GRP are mediated through the gastrin-releasing peptide receptor. This receptor is a glycosylated, 7-transmembrane G-protein coupled receptor that activates the phospholipase C signaling pathway. The receptor is aberrantly expressed in numerous cancers such as those of the lung, colon, and prostate. An individual with autism and multiple exostoses was found to have a balanced translocation between chromosome 8 and a chromosome X breakpoint located within the gastrin-releasing peptide receptor gene. [provided by RefSeq, Jul 2008] Expression Biased expression in pancreas (RPKM 2.4), stomach (RPKM 0.7) and 3 other tissues See more Orthologs mouse all
GRSF1, Official Symbol GRSF1provided by HGNC Official Full Name G-rich RNA sequence binding factor 1provided by HGNC Primary source HGNC:HGNC:4610 See related Ensembl:ENSG00000132463 MIM:604851; AllianceGenome:HGNC:4610 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 Summary The protein encoded by this gene is a cellular protein that binds RNAs containing the G-rich element. The protein is localized in the cytoplasm, and has been shown to stimulate translation of viral mRNAs in vitro. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in adrenal (RPKM 14.1), brain (RPKM 13.8) and 25 other tissues See more Orthologs mouse all
GRTP1, Official Symbol GRTP1provided by HGNC Official Full Name growth hormone regulated TBC protein 1provided by HGNC Primary source HGNC:HGNC:20310 See related Ensembl:ENSG00000139835 AllianceGenome:HGNC:20310 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 TBC1D6 Summary Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in duodenum (RPKM 6.6), small intestine (RPKM 5.5) and 19 other tissues See more Orthologs mouse all
GRTP1-AS1, Official Symbol GRTP1-AS1provided by HGNC Official Full Name GRTP1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:39917 See related AllianceGenome:HGNC:39917 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in small intestine (RPKM 1.8), duodenum (RPKM 1.7) and 20 other tissues See more
GRWD1, Official Symbol GRWD1provided by HGNC Official Full Name glutamate rich WD repeat containing 1provided by HGNC Primary source HGNC:HGNC:21270 See related Ensembl:ENSG00000105447 MIM:610597; AllianceGenome:HGNC:21270 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 CDW4; GRWD; RRB1; WDR28 Summary This gene encodes a glutamate-rich protein that contains five WD-repeat motifs. The encoded protein may play a critical role in ribosome biogenesis and may also play a role in histone methylation through interactions with CUL4-DDB1 ubiquitin E3 ligase. [provided by RefSeq, Feb 2012] Expression Ubiquitous expression in placenta (RPKM 6.8), appendix (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
GRXCR1, Official Symbol GRXCR1provided by HGNC Official Full Name glutaredoxin and cysteine rich domain containing 1provided by HGNC Primary source HGNC:HGNC:31673 See related Ensembl:ENSG00000215203 MIM:613283; AllianceGenome:HGNC:31673 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 DFNB25; PPP1R88 Summary This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment. This gene encodes a protein which contains GRX-like domains; these domains play a role in the S-glutathionylation of proteins and may be involved in actin organization in hair cells. [provided by RefSeq, Sep 2010] Expression Low expression observed in reference dataset See more Orthologs mouse all
GRXCR2, Official Symbol GRXCR2provided by HGNC Official Full Name glutaredoxin and cysteine rich domain containing 2provided by HGNC Primary source HGNC:HGNC:33862 See related Ensembl:ENSG00000204928 MIM:615762; AllianceGenome:HGNC:33862 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 DFNB101 Summary This gene encodes a protein containing a glutaredoxin domain, which functions in protein S-glutathionylation. A mutation in this gene was found in a family with autoosomal recessive nonsyndromic sensorineural deafness-101. [provided by RefSeq, Jun 2014] Expression Low expression observed in reference dataset See more Orthologs mouse all
GS1-204I12.4, Gene symbol GS1-204I12.4 Gene description uncharacterized GS1-204I12.4 See related Ensembl:ENSG00000261729 Gene type ncRNA RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
GS1-24F4.2, Gene symbol GS1-24F4.2 Gene description uncharacterized LOC100652791 See related Ensembl:ENSG00000245857 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 6.9) See more
GS1-278J22.2, Gene symbol GS1-278J22.2 Gene description uncharacterized GS1-278J22.2 See related Ensembl:ENSG00000228627 Gene type ncRNA RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
GS1-279B7.1, Gene symbol GS1-279B7.1 Gene description microtubule associated protein 1 light chain 3 beta pseudogene See related Ensembl:ENSG00000261024 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 1.3) See more
GS1-600G8.3, Gene symbol GS1-600G8.3 Gene description unknown transcript See related Ensembl:ENSG00000231216 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 1.3) See more
GSAP, Official Symbol GSAPprovided by HGNC Official Full Name gamma-secretase activating proteinprovided by HGNC Primary source HGNC:HGNC:28042 See related Ensembl:ENSG00000186088 MIM:613552; AllianceGenome:HGNC:28042 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 PION Summary Accumulation of neurotoxic amyloid-beta is a major hallmark of Alzheimer disease (AD; MIM 104300). Formation of amyloid-beta is catalyzed by gamma-secretase (see PSEN1; MIM 104311), a protease with numerous substrates. PION, or GSAP, selectively increases amyloid-beta production through a mechanism involving its interaction with both gamma-secretase and its substrate, the amyloid-beta precursor protein (APP; MIM 104760) C-terminal fragment (APP-CTF) (He et al., 2010 [PubMed 20811458]).[supplied by OMIM, Nov 2010] Expression Ubiquitous expression in lung (RPKM 10.9), spleen (RPKM 10.4) and 25 other tissues See more Orthologs mouse all
GSC, Official Symbol GSCprovided by HGNC Official Full Name goosecoid homeoboxprovided by HGNC Primary source HGNC:HGNC:4612 See related Ensembl:ENSG00000133937 MIM:138890; AllianceGenome:HGNC:4612 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 GSC1; SAMS Summary This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in craniofacial and rib cage development during embryogenesis. [provided by RefSeq, Jul 2008] Expression Biased expression in fat (RPKM 1.7), brain (RPKM 0.2) and 8 other tissues See more Orthologs mouse all
GSC2, Official Symbol GSC2provided by HGNC Official Full Name goosecoid homeobox 2provided by HGNC Primary source HGNC:HGNC:4613 See related Ensembl:ENSG00000063515 MIM:601845; AllianceGenome:HGNC:4613 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 GSCL Summary Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
GSDMA, Official Symbol GSDMAprovided by HGNC Official Full Name gasdermin Aprovided by HGNC Primary source HGNC:HGNC:13311 See related Ensembl:ENSG00000167914 MIM:611218; AllianceGenome:HGNC:13311 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 GSDM; FKSG9; GSDM1 Summary Predicted to enable phosphatidylinositol-4,5-bisphosphate binding activity; phosphatidylinositol-4-phosphate binding activity; and phosphatidylserine binding activity. Involved in apoptotic process. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 16.4) and esophagus (RPKM 1.0) See more Orthologs all
GSDMB, Official Symbol GSDMBprovided by HGNC Official Full Name gasdermin Bprovided by HGNC Primary source HGNC:HGNC:23690 See related Ensembl:ENSG00000073605 MIM:611221; AllianceGenome:HGNC:23690 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 GSDML; PP4052; GSDMB-1; PRO2521 Summary This gene encodes a member of the gasdermin-domain containing protein family. Other gasdermin-family genes are implicated in the regulation of apoptosis in epithelial cells, and are linked to cancer. Alternative splicing and the use of alternative promoters results in multiple transcript variants. Additional variants have been described, but they are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to be protein-coding. [provided by RefSeq, Nov 2016] Expression Broad expression in small intestine (RPKM 18.8), duodenum (RPKM 16.9) and 17 other tissues See more Orthologs all
GSDMC, Official Symbol GSDMCprovided by HGNC Official Full Name gasdermin Cprovided by HGNC Primary source HGNC:HGNC:7151 See related Ensembl:ENSG00000147697 MIM:608384; AllianceGenome:HGNC:7151 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 MLZE Summary Predicted to enable phosphatidylinositol-4,5-bisphosphate binding activity; phosphatidylinositol-4-phosphate binding activity; and phosphatidylserine binding activity. Predicted to be involved in defense response to bacterium and pyroptosis. Predicted to act upstream of or within intestinal epithelial cell development. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 9.5), spleen (RPKM 4.6) and 1 other tissue See more Orthologs all
GSDMD, Official Symbol GSDMDprovided by HGNC Official Full Name gasdermin Dprovided by HGNC Primary source HGNC:HGNC:25697 See related Ensembl:ENSG00000104518 MIM:617042; AllianceGenome:HGNC:25697 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 DF5L; DFNA5L; FKSG10; GSDMDC1 Summary Gasdermin D is a member of the gasdermin family. Members of this family appear to play a role in regulation of epithelial proliferation. Gasdermin D has been suggested to act as a tumor suppressor. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in spleen (RPKM 35.6), duodenum (RPKM 18.8) and 24 other tissues See more Orthologs mouse all
GSDME, Official Symbol GSDMEprovided by HGNC Official Full Name gasdermin Eprovided by HGNC Primary source HGNC:HGNC:2810 See related Ensembl:ENSG00000105928 MIM:608798; AllianceGenome:HGNC:2810 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 DFNA5; ICERE-1 Summary Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 18.9), small intestine (RPKM 11.1) and 19 other tissues See more Orthologs mouse all
GSE1, Official Symbol GSE1provided by HGNC Official Full Name Gse1 coiled-coil proteinprovided by HGNC Primary source HGNC:HGNC:28979 See related Ensembl:ENSG00000131149 MIM:616886; AllianceGenome:HGNC:28979 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 CRHSP24; KIAA0182 Summary This gene encodes a proline-rich protein with coiled coil domains that may be a subunit of a BRAF35-HDAC (BHC) histone deacetylase complex. This gene may function as an oncogene in breast cancer and enhanced expression of the encoded protein has been observed in breast cancer patients. [provided by RefSeq, May 2017] Expression Ubiquitous expression in placenta (RPKM 7.8), fat (RPKM 7.8) and 25 other tissues See more Orthologs mouse all
GSG1, Official Symbol GSG1provided by HGNC Official Full Name germ cell associated 1provided by HGNC Primary source HGNC:HGNC:19716 See related Ensembl:ENSG00000111305 AllianceGenome:HGNC:19716 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 RNA polymerase binding activity. Predicted to be located in endoplasmic reticulum membrane. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 69.4) See more Orthologs mouse all
GSG1L, Official Symbol GSG1Lprovided by HGNC Official Full Name GSG1 likeprovided by HGNC Primary source HGNC:HGNC:28283 See related Ensembl:ENSG00000169181 MIM:617161; AllianceGenome:HGNC:28283 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 PRO19651 Summary Predicted to be involved in regulation of AMPA receptor activity. Predicted to be located in postsynaptic density. Predicted to be active in Schaffer collateral - CA1 synapse; glutamatergic synapse; and plasma membrane. Predicted to be integral component of postsynaptic density membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 2.2), heart (RPKM 1.7) and 2 other tissues See more Orthologs mouse all
GSG1L2, Official Symbol GSG1L2provided by HGNC Official Full Name GSG1 like 2provided by HGNC Primary source HGNC:HGNC:51826 See related Ensembl:ENSG00000214978 AllianceGenome:HGNC:51826 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 be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
GSK3A, Official Symbol GSK3Aprovided by HGNC Official Full Name glycogen synthase kinase 3 alphaprovided by HGNC Primary source HGNC:HGNC:4616 See related Ensembl:ENSG00000105723 MIM:606784; AllianceGenome:HGNC:4616 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 This gene encodes a multifunctional Ser/Thr protein kinase that is implicated in the control of several regulatory proteins including glycogen synthase, and transcription factors, such as JUN. It also plays a role in the WNT and PI3K signaling pathways, as well as regulates the production of beta-amyloid peptides associated with Alzheimer's disease. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in brain (RPKM 26.3), testis (RPKM 18.3) and 25 other tissues See more Orthologs mouse all
GSK3B, Official Symbol GSK3Bprovided by HGNC Official Full Name glycogen synthase kinase 3 betaprovided by HGNC Primary source HGNC:HGNC:4617 See related Ensembl:ENSG00000082701 MIM:605004; AllianceGenome:HGNC:4617 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 Summary The protein encoded by this gene is a serine-threonine kinase belonging to the glycogen synthase kinase subfamily. It is a negative regulator of glucose homeostasis and is involved in energy metabolism, inflammation, ER-stress, mitochondrial dysfunction, and apoptotic pathways. Defects in this gene have been associated with Parkinson disease and Alzheimer disease. [provided by RefSeq, Aug 2017] Expression Ubiquitous expression in brain (RPKM 13.9), thyroid (RPKM 9.9) and 25 other tissues See more Orthologs mouse all
GSKIP, Official Symbol GSKIPprovided by HGNC Official Full Name GSK3B interacting proteinprovided by HGNC Primary source HGNC:HGNC:20343 See related Ensembl:ENSG00000100744 MIM:616605; AllianceGenome:HGNC:20343 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 HSPC210; C14orf129 Summary This gene encodes a protein that is involved as a negative regulator of GSK3-beta in the Wnt signaling pathway. The encoded protein may play a role in the retinoic acid signaling pathway by regulating the functional interactions between GSK3-beta, beta-catenin and cyclin D1, and it regulates the beta-catenin/N-cadherin pool. The encoded protein contains a GSK3-beta interacting domain (GID) in its C-terminus, which is similar to the GID of Axin. The protein also contains an evolutionarily conserved RII-binding domain, which facilitates binding with protein kinase-A and GSK3-beta, enabling its role as an A-kinase anchoring protein. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012] Expression Broad expression in colon (RPKM 25.5), small intestine (RPKM 20.7) and 24 other tissues See more Orthologs mouse all
GSN, Official Symbol GSNprovided by HGNC Official Full Name gelsolinprovided by HGNC Primary source HGNC:HGNC:4620 See related Ensembl:ENSG00000148180 MIM:137350; AllianceGenome:HGNC:4620 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 ADF; AGEL Summary The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 444.2), heart (RPKM 172.6) and 23 other tissues See more Orthologs mouse all
GSN-AS1, Official Symbol GSN-AS1provided by HGNC Official Full Name GSN antisense RNA 1provided by HGNC Primary source HGNC:HGNC:23372 See related Ensembl:ENSG00000235865 AllianceGenome:HGNC:23372 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MOST2; C9orf31
GSPT1, Official Symbol GSPT1provided by HGNC Official Full Name G1 to S phase transition 1provided by HGNC Primary source HGNC:HGNC:4621 See related Ensembl:ENSG00000103342 MIM:139259; AllianceGenome:HGNC:4621 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 GST1; ETF3A; eRF3a; 551G9.2 Summary Enables translation release factor activity. Involved in regulation of translational termination. Acts upstream of or within protein methylation. Predicted to be located in cytosol. Predicted to be part of translation release factor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 16.3), colon (RPKM 15.7) and 25 other tissues See more Orthologs mouse all
GSPT2, Official Symbol GSPT2provided by HGNC Official Full Name G1 to S phase transition 2provided by HGNC Primary source HGNC:HGNC:4622 See related Ensembl:ENSG00000189369 MIM:300418; AllianceGenome:HGNC:4622 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 GST2; ERF3B Summary This gene encodes a GTPase that belongs to the GTP-binding elongation factor family. The encoded protein is a polypeptide release factor that complexes with eukaryotic peptide chain release factor 1 to mediate translation termination. This protein may also be involved in mRNA stability.[provided by RefSeq, Mar 2010] Orthologs all
GSR, Official Symbol GSRprovided by HGNC Official Full Name glutathione-disulfide reductaseprovided by HGNC Primary source HGNC:HGNC:4623 See related Ensembl:ENSG00000104687 MIM:138300; AllianceGenome:HGNC:4623 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 GR; GSRD; HEL-75; HEL-S-122m Summary This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2010] Expression Ubiquitous expression in colon (RPKM 26.7), kidney (RPKM 25.9) and 25 other tissues See more Orthologs mouse all