psui3905/ncbi_genes_summary huggingface dataset:
GSS, Official Symbol GSSprovided by HGNC Official Full Name glutathione synthetaseprovided by HGNC Primary source HGNC:HGNC:4624 See related Ensembl:ENSG00000100983 MIM:601002; AllianceGenome:HGNC:4624 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 GSHS; HEL-S-64p; HEL-S-88n Summary Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 14.9), colon (RPKM 13.6) and 25 other tissues See more Orthologs mouse all
GSTA1, Official Symbol GSTA1provided by HGNC Official Full Name glutathione S-transferase alpha 1provided by HGNC Primary source HGNC:HGNC:4626 See related Ensembl:ENSG00000243955 MIM:138359; AllianceGenome:HGNC:4626 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; GTH1; GSTA1-1; GST-epsilon Summary This gene encodes a member of a family of enzymes that function to add glutathione to target electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins, and products of oxidative stress. This action is an important step in detoxification of these compounds. This subfamily of enzymes has a particular role in protecting cells from reactive oxygen species and the products of peroxidation. Polymorphisms in this gene influence the ability of individuals to metabolize different drugs. This gene is located in a cluster of similar genes and pseudogenes on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Biased expression in liver (RPKM 342.4), kidney (RPKM 288.3) and 6 other tissues See more Orthologs all
GSTA10P, Official Symbol GSTA10Pprovided by HGNC Official Full Name glutathione S-transferase alpha 10, pseudogeneprovided by HGNC Primary source HGNC:HGNC:49904 See related AllianceGenome:HGNC:49904 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 GSTAP2
GSTA11P, Official Symbol GSTA11Pprovided by HGNC Official Full Name glutathione S-transferase alpha 11, pseudogeneprovided by HGNC Primary source HGNC:HGNC:49905 See related AllianceGenome:HGNC:49905 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 GSTAP3
GSTA12P, Official Symbol GSTA12Pprovided by HGNC Official Full Name glutathione S-transferase alpha 12, pseudogeneprovided by HGNC Primary source HGNC:HGNC:49906 See related Ensembl:ENSG00000217228 AllianceGenome:HGNC:49906 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 GSTAP5
GSTA2, Official Symbol GSTA2provided by HGNC Official Full Name glutathione S-transferase alpha 2provided by HGNC Primary source HGNC:HGNC:4627 See related Ensembl:ENSG00000244067 MIM:138360; AllianceGenome:HGNC:4627 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; GTA2; GTH2; GSTA2-2 Summary Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes function in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding these enzymes are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of some drugs. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, located in a cluster mapped to chromosome 6, are the most abundantly expressed glutathione S-transferases in liver. In addition to metabolizing bilirubin and certain anti-cancer drugs in the liver, the alpha class of these enzymes exhibit glutathione peroxidase activity thereby protecting the cells from reactive oxygen species and the products of peroxidation. [provided by RefSeq, Jul 2008] Expression Biased expression in liver (RPKM 492.6), kidney (RPKM 310.5) and 6 other tissues See more Orthologs all
GSTA3, Official Symbol GSTA3provided by HGNC Official Full Name glutathione S-transferase alpha 3provided by HGNC Primary source HGNC:HGNC:4628 See related Ensembl:ENSG00000174156 MIM:605449; AllianceGenome:HGNC:4628 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 GTA3; GSTA3-3 Summary Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class genes that are located in a cluster mapped to chromosome 6. Genes of the alpha class are highly related and encode enzymes with glutathione peroxidase activity. However, during evolution, this alpha class gene diverged accumulating mutations in the active site that resulted in differences in substrate specificity and catalytic activity. The enzyme encoded by this gene catalyzes the double bond isomerization of precursors for progesterone and testosterone during the biosynthesis of steroid hormones. An additional transcript variant has been identified, but its full length sequence has not been determined. [provided by RefSeq, Jul 2008] Expression Biased expression in adrenal (RPKM 10.7), placenta (RPKM 5.5) and 2 other tissues See more Orthologs all
GSTA4, Official Symbol GSTA4provided by HGNC Official Full Name glutathione S-transferase alpha 4provided by HGNC Primary source HGNC:HGNC:4629 See related Ensembl:ENSG00000170899 MIM:605450; AllianceGenome:HGNC:4629 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 GTA4; GSTA4-4 Summary Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, which are located in a cluster on chromosome 6, are highly related and encode enzymes with glutathione peroxidase activity that function in the detoxification of lipid peroxidation products. Reactive electrophiles produced by oxidative metabolism have been linked to a number of degenerative diseases including Parkinson's disease, Alzheimer's disease, cataract formation, and atherosclerosis. [provided by RefSeq, Jul 2008] Expression Broad expression in adrenal (RPKM 149.4), skin (RPKM 38.6) and 16 other tissues See more Orthologs all
GSTA5, Official Symbol GSTA5provided by HGNC Official Full Name glutathione S-transferase alpha 5provided by HGNC Primary source HGNC:HGNC:19662 See related Ensembl:ENSG00000182793 MIM:607605; AllianceGenome:HGNC:19662 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 The glutathione S-transferases (GST; EC 2.5.1.18) catalyze the conjugation of reduced glutathiones and a variety of electrophiles, including many known carcinogens and mutagens. The cytosolic GSTs belong to a large superfamily, with members located on different chromosomes. For additional information on GSTs, see GSTA1 (MIM 138359).[supplied by OMIM, Sep 2008] Expression Low expression observed in reference dataset See more Orthologs all
GSTA6P, Official Symbol GSTA6Pprovided by HGNC Official Full Name glutathione S-transferase alpha 6, pseudogeneprovided by HGNC Primary source HGNC:HGNC:4630 See related Ensembl:ENSG00000223622 AllianceGenome:HGNC:4630 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 GSTAP1
GSTA9P, Official Symbol GSTA9Pprovided by HGNC Official Full Name glutathione S-transferase alpha 9, pseudogeneprovided by HGNC Primary source HGNC:HGNC:49902 See related Ensembl:ENSG00000243236 AllianceGenome:HGNC:49902 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 GSTA4P; GSTAP4
GSTCD, Official Symbol GSTCDprovided by HGNC Official Full Name glutathione S-transferase C-terminal domain containingprovided by HGNC Primary source HGNC:HGNC:25806 See related Ensembl:ENSG00000138780 MIM:615912; AllianceGenome:HGNC:25806 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 Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 2.7), thyroid (RPKM 2.2) and 25 other tissues See more Orthologs mouse all
GSTCD-AS1, Official Symbol GSTCD-AS1provided by HGNC Official Full Name GSTCD antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41117 See related Ensembl:ENSG00000251175 AllianceGenome:HGNC:41117 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 2.7) See more
GSTK1, Official Symbol GSTK1provided by HGNC Official Full Name glutathione S-transferase kappa 1provided by HGNC Primary source HGNC:HGNC:16906 See related Ensembl:ENSG00000197448 MIM:602321; AllianceGenome:HGNC:16906 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 GST; GST13; hGSTK1; GSTK1-1; GST13-13; GST 13-13 Summary This gene encodes a member of the kappa class of the glutathione transferase superfamily of enzymes that function in cellular detoxification. The encoded protein is localized to the peroxisome and catalyzes the conjugation of glutathione to a wide range of hydrophobic substates facilitating the removal of these compounds from cells. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009] Expression Ubiquitous expression in duodenum (RPKM 118.1), small intestine (RPKM 106.3) and 25 other tissues See more Orthologs mouse all
GSTM1, Official Symbol GSTM1provided by HGNC Official Full Name glutathione S-transferase mu 1provided by HGNC Primary source HGNC:HGNC:4632 See related Ensembl:ENSG00000134184 MIM:138350; AllianceGenome:HGNC:4632 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 MU; H-B; GST1; GTH4; GTM1; MU-1; GSTM1-1; GSTM1a-1a; GSTM1b-1b Summary Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Null mutations of this class mu gene have been linked with an increase in a number of cancers, likely due to an increased susceptibility to environmental toxins and carcinogens. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in liver (RPKM 72.7), ovary (RPKM 58.6) and 25 other tissues See more Orthologs all
GSTM2, Official Symbol GSTM2provided by HGNC Official Full Name glutathione S-transferase mu 2provided by HGNC Primary source HGNC:HGNC:4634 See related Ensembl:ENSG00000213366 MIM:138380; AllianceGenome:HGNC:4634 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 GST4; GSTM; GTHMUS; GSTM2-2 Summary Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 68.7), skin (RPKM 43.2) and 25 other tissues See more Orthologs all
GSTM2P1, Official Symbol GSTM2P1provided by HGNC Official Full Name glutathione S-transferase mu 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:38009 See related AllianceGenome:HGNC:38009 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GSTM3, Official Symbol GSTM3provided by HGNC Official Full Name glutathione S-transferase mu 3provided by HGNC Primary source HGNC:HGNC:4635 See related Ensembl:ENSG00000134202 MIM:138390; AllianceGenome:HGNC:4635 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 GST5; GSTB; GTM3; GSTM3-3; GSTM3TV2; hGSTM3-3 Summary Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Mutations of this class mu gene have been linked with a slight increase in a number of cancers, likely due to exposure with environmental toxins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008] Expression Broad expression in testis (RPKM 82.2), kidney (RPKM 34.8) and 16 other tissues See more Orthologs all
GSTM3P1, Official Symbol GSTM3P1provided by HGNC Official Full Name glutathione S-transferase mu 3 pseudogene 1provided by HGNC Primary source HGNC:HGNC:16606 See related Ensembl:ENSG00000227693 AllianceGenome:HGNC:16606 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 GSTM3P; dJ984P4.2
GSTM4, Official Symbol GSTM4provided by HGNC Official Full Name glutathione S-transferase mu 4provided by HGNC Primary source HGNC:HGNC:4636 See related Ensembl:ENSG00000168765 MIM:138333; AllianceGenome:HGNC:4636 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 GTM4; GSTM4-4 Summary Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. Multiple transcript variants, each encoding a distinct protein isoform, have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in duodenum (RPKM 44.6), small intestine (RPKM 30.1) and 23 other tissues See more Orthologs all
GSTM5, Official Symbol GSTM5provided by HGNC Official Full Name glutathione S-transferase mu 5provided by HGNC Primary source HGNC:HGNC:4637 See related Ensembl:ENSG00000134201 MIM:138385; AllianceGenome:HGNC:4637 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 GTM5; GSTM5-5 Summary Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. [provided by RefSeq, Jul 2008] Expression Biased expression in ovary (RPKM 81.4), gall bladder (RPKM 13.9) and 9 other tissues See more Orthologs all
GSTM5P1, Official Symbol GSTM5P1provided by HGNC Official Full Name glutathione S-transferase mu 5 pseudogene 1provided by HGNC Primary source HGNC:HGNC:4633 See related AllianceGenome:HGNC:4633 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 GST1L; GSTM1L Annotation information Note: This locus, originally represented by GeneID:2945, was annotated on the wrong strand in build GRCh37.p10 (Annotation Release 104). GeneID:2945 was discontinued and replaced by GeneID:100505557 on the correct strand. [17 Jun 2014]
GSTO1, Official Symbol GSTO1provided by HGNC Official Full Name glutathione S-transferase omega 1provided by HGNC Primary source HGNC:HGNC:13312 See related Ensembl:ENSG00000148834 MIM:605482; AllianceGenome:HGNC:13312 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 P28; SPG-R; GSTO 1-1; GSTTLp28; HEL-S-21 Summary The protein encoded by this gene is an omega class glutathione S-transferase (GST) with glutathione-dependent thiol transferase and dehydroascorbate reductase activities. GSTs are involved in the metabolism of xenobiotics and carcinogens. The encoded protein acts as a homodimer and is found in the cytoplasm. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] Expression Ubiquitous expression in liver (RPKM 91.8), heart (RPKM 47.6) and 25 other tissues See more Orthologs mouse all
GSTO2, Official Symbol GSTO2provided by HGNC Official Full Name glutathione S-transferase omega 2provided by HGNC Primary source HGNC:HGNC:23064 See related Ensembl:ENSG00000065621 MIM:612314; AllianceGenome:HGNC:23064 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 GSTO 2-2; bA127L20.1 Summary The protein encoded by this gene is an omega class glutathione S-transferase (GST). GSTs are involved in the metabolism of xenobiotics and carcinogens. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010] Expression Broad expression in skin (RPKM 2.1), testis (RPKM 1.8) and 21 other tissues See more Orthologs all
GSTO3P, Official Symbol GSTO3Pprovided by HGNC Official Full Name glutathione S-transferase omega 3, pseudogeneprovided by HGNC Primary source HGNC:HGNC:23065 See related Ensembl:ENSG00000232829 AllianceGenome:HGNC:23065 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 GSTO3P1
GSTP1, Official Symbol GSTP1provided by HGNC Official Full Name glutathione S-transferase pi 1provided by HGNC Primary source HGNC:HGNC:4638 See related Ensembl:ENSG00000084207 MIM:134660; AllianceGenome:HGNC:4638 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 PI; DFN7; GST3; GSTP; FAEES3; HEL-S-22 Summary Glutathione S-transferases (GSTs) are a family of enzymes that play an important role in detoxification by catalyzing the conjugation of many hydrophobic and electrophilic compounds with reduced glutathione. Based on their biochemical, immunologic, and structural properties, the soluble GSTs are categorized into 4 main classes: alpha, mu, pi, and theta. This GST family member is a polymorphic gene encoding active, functionally different GSTP1 variant proteins that are thought to function in xenobiotic metabolism and play a role in susceptibility to cancer, and other diseases. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in esophagus (RPKM 400.7), thyroid (RPKM 188.1) and 24 other tissues See more Orthologs all
GSTT2, Official Symbol GSTT2provided by HGNC Official Full Name glutathione S-transferase theta 2 (gene/pseudogene)provided by HGNC Primary source HGNC:HGNC:4642 See related Ensembl:ENSG00000099984 MIM:600437; AllianceGenome:HGNC:4642 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 The protein encoded by this gene, glutathione S-transferase (GST) theta 2 (GSTT2), is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT2 and GSTT2B are nearly identical to each other, and share 55% amino acid identity with GSTT1. All three genes may play a role in human carcinogenesis. The GSTT2 gene is a pseudogene in some populations. [provided by RefSeq, Sep 2015] Annotation information Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene. Expression Broad expression in adrenal (RPKM 18.4), skin (RPKM 14.6) and 20 other tissues See more Orthologs all
GSTT2B, Official Symbol GSTT2Bprovided by HGNC Official Full Name glutathione S-transferase theta 2Bprovided by HGNC Primary source HGNC:HGNC:33437 See related Ensembl:ENSG00000133433 AllianceGenome:HGNC:33437 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 GSTT2P Summary The protein encoded by this gene, glutathione S-transferase (GST) theta 2B (GSTT2B), is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT2 and GSTT2B are nearly identical to each other, and share 55% amino acid identity with GSTT1. All three genes may play a role in human carcinogenesis. The GSTT2B gene is a pseudogene in some populations. [provided by RefSeq, Sep 2015] Annotation information Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene. Expression Broad expression in adrenal (RPKM 23.9), skin (RPKM 19.2) and 21 other tissues See more Orthologs all
GSTT4, Official Symbol GSTT4provided by HGNC Official Full Name glutathione S-transferase theta 4provided by HGNC Primary source HGNC:HGNC:26930 See related Ensembl:ENSG00000276950 AllianceGenome:HGNC:26930 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 GSTTP1; HS322B1A Summary Predicted to enable glutathione transferase activity. Predicted to be involved in glutathione metabolic process. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 4.0) See more Orthologs all
GSTZ1, Official Symbol GSTZ1provided by HGNC Official Full Name glutathione S-transferase zeta 1provided by HGNC Primary source HGNC:HGNC:4643 See related Ensembl:ENSG00000100577 MIM:603758; AllianceGenome:HGNC:4643 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 MAI; MAAI; MAAID; GSTZ1-1 Summary This gene is a member of the glutathione S-transferase (GSTs) super-family which encodes multifunctional enzymes important in the detoxification of electrophilic molecules, including carcinogens, mutagens, and several therapeutic drugs, by conjugation with glutathione. This enzyme catalyzes the conversion of maleylacetoacetate to fumarylacetoacatate, which is one of the steps in the phenylalanine/tyrosine degradation pathway. Deficiency of a similar gene in mouse causes oxidative stress. Several transcript variants of this gene encode multiple protein isoforms. [provided by RefSeq, Jul 2015] Expression Broad expression in liver (RPKM 23.8), testis (RPKM 10.9) and 24 other tissues See more Orthologs mouse all
GSX1, Official Symbol GSX1provided by HGNC Official Full Name GS homeobox 1provided by HGNC Primary source HGNC:HGNC:20374 See related Ensembl:ENSG00000169840 MIM:616542; AllianceGenome:HGNC:20374 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 GSH1; Gsh-1 Summary Enables sequence-specific double-stranded DNA binding activity. Acts upstream of or within positive regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
GSX2, Official Symbol GSX2provided by HGNC Official Full Name GS homeobox 2provided by HGNC Primary source HGNC:HGNC:24959 See related Ensembl:ENSG00000180613 MIM:616253; AllianceGenome:HGNC:24959 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 GSH2; DMJDS2 Summary Enables DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including nervous system development; positive regulation of Notch signaling pathway; and regulation of respiratory gaseous exchange by nervous system process. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
GTDC1, Official Symbol GTDC1provided by HGNC Official Full Name glycosyltransferase like domain containing 1provided by HGNC Primary source HGNC:HGNC:20887 See related Ensembl:ENSG00000121964 MIM:610165; AllianceGenome:HGNC:20887 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 mat-Xa; Hmat-Xa Summary Predicted to enable glycosyltransferase activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 3.1), fat (RPKM 2.4) and 25 other tissues See more Orthologs mouse all
GTF2A1, Official Symbol GTF2A1provided by HGNC Official Full Name general transcription factor IIA subunit 1provided by HGNC Primary source HGNC:HGNC:4646 See related Ensembl:ENSG00000165417 MIM:600520; AllianceGenome:HGNC:4646 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 TF2A1; TFIIA; TFIIAL; TFIIA-42 Summary Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and several general initiation factors (summarized by DeJong and Roeder, 1993 [PubMed 8224848]). One of these factors is TFIIA, which when purified from HeLa extracts consists of 35-, 19-, and 12-kD subunits.[supplied by OMIM, Jul 2010] Expression Ubiquitous expression in thyroid (RPKM 15.3), testis (RPKM 12.9) and 25 other tissues See more Orthologs mouse all
GTF2A1L, Official Symbol GTF2A1Lprovided by HGNC Official Full Name general transcription factor IIA subunit 1 likeprovided by HGNC Primary source HGNC:HGNC:30727 See related Ensembl:ENSG00000242441 MIM:605358; AllianceGenome:HGNC:30727 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 ALF Summary The assembly and stability of the RNA polymerase II transcription pre-initiation complex on a eukaryotic core promoter involve the effects of transcription factor IIA (TFIIA) on the interaction between TATA-binding protein (TBP) and DNA. This gene encodes a germ cell-specific counterpart of the large (alpha/beta) subunit of general transcription factor TFIIA that is able to stabilize the binding of TBP to DNA and may be uniquely important to testis biology. Alternative splicing for this locus has been observed and two variants, encoding distinct isoforms, have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Mar 2014] Expression Biased expression in testis (RPKM 30.5), endometrium (RPKM 1.9) and 1 other tissue See more Orthologs mouse all
GTF2A2, Official Symbol GTF2A2provided by HGNC Official Full Name general transcription factor IIA subunit 2provided by HGNC Primary source HGNC:HGNC:4647 See related Ensembl:ENSG00000140307 MIM:600519; AllianceGenome:HGNC:4647 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 TF2A2; TFIIA; T18745; TFIIAS; HsT18745; TFIIA-12; TFIIA-gamma Summary Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and the general initiation factors TFIIA, TFIIB (MIM 189963), TFIID (MIM 313650), TFIIE (MIM 189962), TFIIF (MIM 189968), TFIIG/TFIIJ, and TFIIH (MIM 189972). The first step involves recognition of the TATA element by the TATA-binding subunit (TBP; MIM 600075) and may be regulated by TFIIA, a factor that interacts with both TBP and a TBP-associated factor (TAF; MIM 600475) in TFIID. TFIIA has 2 subunits (43 and 12 kD) in yeast and 3 subunits in higher eukaryotes. In HeLa extracts, it consists of a 35-kD alpha subunit and a 19-kD beta subunit encoded by the N- and C-terminal regions of GTF2A1 (MIM 600520), respectively, and a 12-kD gamma subunit encoded by GTF2A2 (DeJong et al., 1995 [PubMed 7724559]).[supplied by OMIM, Mar 2008] Expression Broad expression in testis (RPKM 46.4), colon (RPKM 13.2) and 24 other tissues See more Orthologs mouse all
GTF2B, Official Symbol GTF2Bprovided by HGNC Official Full Name general transcription factor IIBprovided by HGNC Primary source HGNC:HGNC:4648 See related Ensembl:ENSG00000137947 MIM:189963; AllianceGenome:HGNC:4648 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 TF2B; TFIIB Summary This gene encodes the general transcription factor IIB, one of the ubiquitous factors required for transcription initiation by RNA polymerase II. The protein localizes to the nucleus where it forms a complex (the DAB complex) with transcription factors IID and IIA. Transcription factor IIB serves as a bridge between IID, the factor which initially recognizes the promoter sequence, and RNA polymerase II. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 18.5), gall bladder (RPKM 11.2) and 25 other tissues See more Orthologs mouse all
GTF2E1, Official Symbol GTF2E1provided by HGNC Official Full Name general transcription factor IIE subunit 1provided by HGNC Primary source HGNC:HGNC:4650 See related Ensembl:ENSG00000153767 MIM:189962; AllianceGenome:HGNC:4650 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 FE; TF2E1; TFIIE-A Summary Enables RNA polymerase II general transcription initiation factor activity. Involved in transcription by RNA polymerase II. Located in cytosol and nucleoplasm. Part of transcription factor TFIID complex and transcription preinitiation complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 6.1), lymph node (RPKM 3.7) and 25 other tissues See more Orthologs mouse all
GTF2E2, Official Symbol GTF2E2provided by HGNC Official Full Name general transcription factor IIE subunit 2provided by HGNC Primary source HGNC:HGNC:4651 See related Ensembl:ENSG00000197265 MIM:189964; AllianceGenome:HGNC:4651 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 FE; TTD6; TF2E2; TFIIE-B Summary The general transcription factor IIE (TFIIE) is part of the RNA polymerase II transcription initiation complex, recruiting TFIIH and being essential for promoter clearance by RNA polymerase II. TFIIE is a heterodimer (and sometimes heterotetramer) of alpha and beta subunits. The protein encoded by this gene represents the beta subunit of TFIIE. [provided by RefSeq, Jan 2017] Expression Ubiquitous expression in testis (RPKM 12.1), lymph node (RPKM 9.3) and 25 other tissues See more Orthologs mouse all
GTF2F1, Official Symbol GTF2F1provided by HGNC Official Full Name general transcription factor IIF subunit 1provided by HGNC Primary source HGNC:HGNC:4652 See related Ensembl:ENSG00000125651 MIM:189968; AllianceGenome:HGNC:4652 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 BTF4; RAP74; TF2F1; TFIIF Summary Enables several functions, including RNA polymerase II general transcription initiation factor activity; phosphatase activator activity; and promoter-specific chromatin binding activity. Involved in several processes, including positive regulation of transcription by RNA polymerase II; response to virus; and transcription initiation from RNA polymerase II promoter. Located in cell junction and nucleoplasm. Part of transcription factor TFIID complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 36.8), testis (RPKM 30.9) and 25 other tissues See more Orthologs mouse all
GTF2F2, Official Symbol GTF2F2provided by HGNC Official Full Name general transcription factor IIF subunit 2provided by HGNC Primary source HGNC:HGNC:4653 See related Ensembl:ENSG00000188342 MIM:189969; AllianceGenome:HGNC:4653 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 BTF4; RAP30; TF2F2; TFIIF Summary Predicted to enable RNA polymerase II general transcription initiation factor activity. Involved in transcription by RNA polymerase II. Located in microtubule cytoskeleton and nucleoplasm. Part of transcription preinitiation complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 5.5), adrenal (RPKM 5.1) and 25 other tissues See more Orthologs mouse all
GTF2F2P2, Official Symbol GTF2F2P2provided by HGNC Official Full Name general transcription factor IIF subunit 2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:39092 See related Ensembl:ENSG00000233910 AllianceGenome:HGNC:39092 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GTF2H1, Official Symbol GTF2H1provided by HGNC Official Full Name general transcription factor IIH subunit 1provided by HGNC Primary source HGNC:HGNC:4655 See related Ensembl:ENSG00000110768 MIM:189972; AllianceGenome:HGNC:4655 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 P62; BTF2; TFB1; TFIIH Summary Enables thyroid hormone receptor binding activity. Involved in positive regulation of transcription, DNA-templated and transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription factor TFIIH core complex and transcription factor TFIIH holo complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 18.1), thyroid (RPKM 12.6) and 25 other tissues See more Orthologs mouse all
GTF2H2, Official Symbol GTF2H2provided by HGNC Official Full Name general transcription factor IIH subunit 2provided by HGNC Primary source HGNC:HGNC:4656 See related Ensembl:ENSG00000145736 MIM:601748; AllianceGenome:HGNC:4656 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 p44; BTF2; TFIIH; BTF2P44; BTF2 p44; T-BTF2P44 Summary This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in appendix (RPKM 16.9), testis (RPKM 15.9) and 25 other tissues See more Orthologs all
GTF2H2C, Official Symbol GTF2H2Cprovided by HGNC Official Full Name GTF2H2 family member Cprovided by HGNC Primary source HGNC:HGNC:31394 See related Ensembl:ENSG00000183474 AllianceGenome:HGNC:31394 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 GTF2H2C_2 Summary Predicted to enable zinc ion binding activity. Predicted to be involved in nucleotide-excision repair and regulation of transcription by RNA polymerase II. Located in nuclear speck. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 16.2), thyroid (RPKM 13.7) and 25 other tissues See more Orthologs all
GTF2H3, Official Symbol GTF2H3provided by HGNC Official Full Name general transcription factor IIH subunit 3provided by HGNC Primary source HGNC:HGNC:4657 See related Ensembl:ENSG00000111358 MIM:601750; AllianceGenome:HGNC:4657 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 P34; BTF2; TFB4; TFIIH Summary This gene encodes a member of the TFB4 family. The encoded protein is a subunit of the core-TFIIH basal transcription factor and localizes to the nucleus. The encoded protein is involved in RNA transcription by RNA polymerase II and nucleotide excision repair and associates with the Cdk-activating kinase complex. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 14. [provided by RefSeq, Dec 2012] Expression Ubiquitous expression in lymph node (RPKM 6.3), brain (RPKM 6.2) and 25 other tissues See more Orthologs mouse all