psui3905/ncbi_genes_summary huggingface dataset:
TGDS, Official Symbol TGDSprovided by HGNC Official Full Name TDP-glucose 4,6-dehydrataseprovided by HGNC Primary source HGNC:HGNC:20324 See related Ensembl:ENSG00000088451 MIM:616146; AllianceGenome:HGNC:20324 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 TDPGD; SDR2E1; CATMANS Summary The protein encoded by this gene is a member of the short-chain dehydrogenases/reductases (SDR) superfamily, and is thought to contain a nicotinamide adenine dinucleotide (NAD) binding domain. This large SDR family of enzymes is involved in the metabolism of a variety of compounds, including prostaglandins, retinoids, lipids, steroid hormones, and xenobiotics. Mutations in this gene have been associated with Catel-Manzke syndrome, which is characterized by Pierre Robin sequence, and radial deviation of the index finger due to the presence of an accessory bone between the index finger and its proximal phalanx. Pierre Robin sequence is defined by an undersized jaw, backwards displacement of the tongue base that causes an obstruction of the airways, and can also be associated with a cleft palate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] Expression Ubiquitous expression in thyroid (RPKM 7.9), liver (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
TGFA, Official Symbol TGFAprovided by HGNC Official Full Name transforming growth factor alphaprovided by HGNC Primary source HGNC:HGNC:11765 See related Ensembl:ENSG00000163235 MIM:190170; AllianceGenome:HGNC:11765 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 TFGA Summary This gene encodes a growth factor that is a ligand for the epidermal growth factor receptor, which activates a signaling pathway for cell proliferation, differentiation and development. This protein may act as either a transmembrane-bound ligand or a soluble ligand. This gene has been associated with many types of cancers, and it may also be involved in some cases of cleft lip/palate. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] Expression Broad expression in esophagus (RPKM 11.6), gall bladder (RPKM 8.1) and 17 other tissues See more Orthologs mouse all
TGFA-IT1, Official Symbol TGFA-IT1provided by HGNC Official Full Name TGFA intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41389 See related Ensembl:ENSG00000224606 AllianceGenome:HGNC:41389 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
TGFB1, Official Symbol TGFB1provided by HGNC Official Full Name transforming growth factor beta 1provided by HGNC Primary source HGNC:HGNC:11766 See related Ensembl:ENSG00000105329 MIM:190180; AllianceGenome:HGNC:11766 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 CED; LAP; DPD1; TGFB; IBDIMDE; TGFbeta; TGF-beta1 Summary This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016] Expression Broad expression in spleen (RPKM 38.0), bone marrow (RPKM 32.1) and 23 other tissues See more Orthologs mouse all
TGFB1I1, Official Symbol TGFB1I1provided by HGNC Official Full Name transforming growth factor beta 1 induced transcript 1provided by HGNC Primary source HGNC:HGNC:11767 See related Ensembl:ENSG00000140682 MIM:602353; AllianceGenome:HGNC:11767 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 HIC5; ARA55; HIC-5; TSC-5 Summary This gene encodes a coactivator of the androgen receptor, a transcription factor which is activated by androgen and has a key role in male sexual differentiation. The encoded protein is thought to regulate androgen receptor activity and may have a role to play in the treatment of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] Expression Broad expression in endometrium (RPKM 51.3), prostate (RPKM 29.5) and 20 other tissues See more Orthologs mouse all
TGFB2, Official Symbol TGFB2provided by HGNC Official Full Name transforming growth factor beta 2provided by HGNC Primary source HGNC:HGNC:11768 See related Ensembl:ENSG00000092969 MIM:190220; AllianceGenome:HGNC:11768 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 LDS4; G-TSF; TGF-beta2 Summary This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers. A chromosomal translocation that includes this gene is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. Mutations in this gene may be associated with Loeys-Dietz syndrome. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016] Expression Broad expression in prostate (RPKM 9.5), lung (RPKM 6.3) and 18 other tissues See more Orthologs mouse all
TGFB2-OT1, Official Symbol TGFB2-OT1provided by HGNC Official Full Name TGFB2 overlapping transcript 1provided by HGNC Primary source HGNC:HGNC:50629 See related Ensembl:ENSG00000281453 AllianceGenome:HGNC:50629 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TGFB3, Official Symbol TGFB3provided by HGNC Official Full Name transforming growth factor beta 3provided by HGNC Primary source HGNC:HGNC:11769 See related Ensembl:ENSG00000119699 MIM:190230; AllianceGenome:HGNC:11769 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 ARVD; LDS5; RNHF; ARVD1; TGF-beta3 Summary This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016] Expression Broad expression in placenta (RPKM 31.2), gall bladder (RPKM 25.3) and 22 other tissues See more Orthologs mouse all
TGFBI, Official Symbol TGFBIprovided by HGNC Official Full Name transforming growth factor beta inducedprovided by HGNC Primary source HGNC:HGNC:11771 See related Ensembl:ENSG00000120708 MIM:601692; AllianceGenome:HGNC:11771 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 CSD; CDB1; CDG2; CSD1; CSD2; CSD3; EBMD; LCD1; BIGH3; CDGG1 Summary This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion. Mutations in this gene are associated with multiple types of corneal dystrophy. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 227.8), skin (RPKM 133.2) and 19 other tissues See more Orthologs mouse all
TGFBR1, Official Symbol TGFBR1provided by HGNC Official Full Name transforming growth factor beta receptor 1provided by HGNC Primary source HGNC:HGNC:11772 See related Ensembl:ENSG00000106799 MIM:190181; AllianceGenome:HGNC:11772 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 AAT5; ALK5; ESS1; LDS1; MSSE; SKR4; TBRI; ALK-5; LDS1A; LDS2A; TBR-i; TGFR-1; ACVRLK4; tbetaR-I Summary The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] Expression Ubiquitous expression in placenta (RPKM 13.6), gall bladder (RPKM 8.0) and 24 other tissues See more Orthologs mouse all
TGFBR2, Official Symbol TGFBR2provided by HGNC Official Full Name transforming growth factor beta receptor 2provided by HGNC Primary source HGNC:HGNC:11773 See related Ensembl:ENSG00000163513 MIM:190182; AllianceGenome:HGNC:11773 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 AAT3; FAA3; LDS2; MFS2; RIIC; LDS1B; LDS2B; TAAD2; TBRII; TBR-ii; TGFR-2; tbetaR-II; TGFbeta-RII Summary The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Aug 2017] Expression Ubiquitous expression in fat (RPKM 81.0), lung (RPKM 74.9) and 25 other tissues See more Orthologs mouse all
TGFBR3, Official Symbol TGFBR3provided by HGNC Official Full Name transforming growth factor beta receptor 3provided by HGNC Primary source HGNC:HGNC:11774 See related Ensembl:ENSG00000069702 MIM:600742; AllianceGenome:HGNC:11774 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 BGCAN; betaglycan Summary This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.[provided by RefSeq, Sep 2010] Expression Ubiquitous expression in fat (RPKM 40.0), ovary (RPKM 37.4) and 23 other tissues See more Orthologs mouse all
TGFBR3L, Official Symbol TGFBR3Lprovided by HGNC Official Full Name transforming growth factor beta receptor 3 likeprovided by HGNC Primary source HGNC:HGNC:44152 See related Ensembl:ENSG00000260001 AllianceGenome:HGNC:44152 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 GEMP; TGFR-3L Summary Predicted to enable glycosaminoglycan binding activity; transforming growth factor beta-activated receptor activity; and type II transforming growth factor beta receptor binding activity. Predicted to contribute to transforming growth factor beta binding activity. Predicted to be involved in several processes, including blood vessel morphogenesis; regulation of transforming growth factor beta receptor signaling pathway; and transforming growth factor beta receptor signaling pathway. Predicted to be integral component of membrane. Predicted to be active in cell surface and extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in kidney (RPKM 1.1), brain (RPKM 1.1) and 11 other tissues See more Orthologs mouse all
TGFBRAP1, Official Symbol TGFBRAP1provided by HGNC Official Full Name transforming growth factor beta receptor associated protein 1provided by HGNC Primary source HGNC:HGNC:16836 See related Ensembl:ENSG00000135966 MIM:606237; AllianceGenome:HGNC:16836 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 VPS3; TRAP1; TRAP-1 Summary This gene encodes a protein that binds to transforming growth factor-beta (TGF-beta) receptors and plays a role in TGF-beta signaling. The encoded protein acts as a chaprone in signaling downstream of TGF-beta. It is involved in signal-dependent association with SMAD4. The protein is also a component of mammalian CORVET, a multisubunit tethering protein complex that is involved in fusion of early endosomes. [provided by RefSeq, Jun 2016] Expression Ubiquitous expression in bone marrow (RPKM 7.3), thyroid (RPKM 6.4) and 25 other tissues See more Orthologs mouse all
TGIF1, Official Symbol TGIF1provided by HGNC Official Full Name TGFB induced factor homeobox 1provided by HGNC Primary source HGNC:HGNC:11776 See related Ensembl:ENSG00000177426 MIM:602630; AllianceGenome:HGNC:11776 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 HPE4; TGIF Summary The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and multiple splice variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in urinary bladder (RPKM 9.0), gall bladder (RPKM 8.7) and 25 other tissues See more Orthologs mouse all
TGIF2, Official Symbol TGIF2provided by HGNC Official Full Name TGFB induced factor homeobox 2provided by HGNC Primary source HGNC:HGNC:15764 See related Ensembl:ENSG00000118707 MIM:607294; AllianceGenome:HGNC:15764 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 DNA-binding homeobox protein and a transcriptional repressor, which appears to repress transcription by recruiting histone deacetylases to TGF beta-responsive genes. This gene is amplified and over-expressed in some ovarian cancers. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. Read-through transcription also exists between this gene and the neighboring downstream C20orf24 (chromosome 20 open reading frame 24) gene. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in endometrium (RPKM 10.3), lymph node (RPKM 7.6) and 25 other tissues See more Orthologs mouse all
TGIF2-RAB5IF, Official Symbol TGIF2-RAB5IFprovided by HGNC Official Full Name TGIF2-RAB5IF readthroughprovided by HGNC Primary source HGNC:HGNC:44664 See related Ensembl:ENSG00000259399 AllianceGenome:HGNC:44664 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 TGIF2-C20orf24 Summary This locus represents naturally occurring read-through transcription between the neighboring TGIF2 (TGFB-induced factor homeobox 2) and C20orf24 (chromosome 20 open reading frame 24) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in bone marrow (RPKM 59.6), esophagus (RPKM 49.3) and 25 other tissues See more
TGIF2LX, Official Symbol TGIF2LXprovided by HGNC Official Full Name TGFB induced factor homeobox 2 like X-linkedprovided by HGNC Primary source HGNC:HGNC:18570 See related Ensembl:ENSG00000153779 MIM:300411; AllianceGenome:HGNC:18570 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 TGIFLX Summary This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. Testis-specific expression suggests that this gene may play a role in spermatogenesis. A homolog of this gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 5.8) See more Orthologs all
TGIF2LY, Official Symbol TGIF2LYprovided by HGNC Official Full Name TGFB induced factor homeobox 2 like Y-linkedprovided by HGNC Primary source HGNC:HGNC:18569 See related Ensembl:ENSG00000176679 MIM:400025; AllianceGenome:HGNC:18569 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 TGIFLY Summary This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. This gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. The C-terminus of this protein is divergent from that of its chromosome X homolog (TGIF2LX), suggesting that this protein may act as a regulator of TGIF2LX. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 4.4) See more
TGM1, Official Symbol TGM1provided by HGNC Official Full Name transglutaminase 1provided by HGNC Primary source HGNC:HGNC:11777 See related Ensembl:ENSG00000092295 MIM:190195; AllianceGenome:HGNC:11777 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 LI; KTG; LI1; TGK; ICR2; ARCI1; TGASE Summary The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq, Jul 2008] Expression Restricted expression toward esophagus (RPKM 291.1) See more Orthologs mouse all
TGM2, Official Symbol TGM2provided by HGNC Official Full Name transglutaminase 2provided by HGNC Primary source HGNC:HGNC:11778 See related Ensembl:ENSG00000198959 MIM:190196; AllianceGenome:HGNC:11778 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 TGC; tTG; G(h); hTG2; TG(C) Summary Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene acts as a monomer, is induced by retinoic acid, and appears to be involved in apoptosis. Finally, the encoded protein is the autoantigen implicated in celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 177.0), endometrium (RPKM 107.6) and 16 other tissues See more Orthologs mouse all
TGM3, Official Symbol TGM3provided by HGNC Official Full Name transglutaminase 3provided by HGNC Primary source HGNC:HGNC:11779 See related Ensembl:ENSG00000125780 MIM:600238; AllianceGenome:HGNC:11779 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 TGE; UHS2 Summary Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008] Expression Restricted expression toward esophagus (RPKM 758.5) See more Orthologs mouse all
TGM4, Official Symbol TGM4provided by HGNC Official Full Name transglutaminase 4provided by HGNC Primary source HGNC:HGNC:11780 See related Ensembl:ENSG00000163810 MIM:600585; AllianceGenome:HGNC:11780 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 TGP; hTGP Summary Predicted to enable protein-glutamine gamma-glutamyltransferase activity. Predicted to be involved in peptide cross-linking. Predicted to act upstream of or within mating plug formation. Located in Golgi apparatus and collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward prostate (RPKM 891.0) See more Orthologs mouse all
TGM5, Official Symbol TGM5provided by HGNC Official Full Name transglutaminase 5provided by HGNC Primary source HGNC:HGNC:11781 See related Ensembl:ENSG00000104055 MIM:603805; AllianceGenome:HGNC:11781 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 TGX; PSS2; TGM6; TGMX; TG(X); TGASE5; TGASEX Summary This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009] Expression Biased expression in skin (RPKM 7.6), esophagus (RPKM 3.4) and 1 other tissue See more Orthologs mouse all
TGM6, Official Symbol TGM6provided by HGNC Official Full Name transglutaminase 6provided by HGNC Primary source HGNC:HGNC:16255 See related Ensembl:ENSG00000166948 MIM:613900; AllianceGenome:HGNC:16255 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 TG6; TGY; SCA35; TGM3L; dJ734P14.3 Summary The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are associated with spinocerebellar ataxia type 35 (SCA35). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Expression Low expression observed in reference dataset See more Orthologs mouse all
TGM7, Official Symbol TGM7provided by HGNC Official Full Name transglutaminase 7provided by HGNC Primary source HGNC:HGNC:30790 See related Ensembl:ENSG00000159495 MIM:606776; AllianceGenome:HGNC:30790 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 TGMZ Summary Transglutaminases (TGM; EC 2.3.2.13) are a family of structurally and functionally related enzymes that stabilize protein assemblies through the formation of gamma-glutamyl-epsilon lysine crosslinks. For additional background information on transglutaminases, see TGM1 (MIM 190195).[supplied by OMIM, Jul 2002] Expression Low expression observed in reference dataset See more Orthologs mouse all
TGOLN2, Official Symbol TGOLN2provided by HGNC Official Full Name trans-golgi network protein 2provided by HGNC Primary source HGNC:HGNC:15450 See related Ensembl:ENSG00000152291 MIM:603062; AllianceGenome:HGNC:15450 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 TGN38; TGN46; TGN48; TGN51; TTGN2; hTGN46; hTGN48; hTGN51 Summary This gene encodes a type I integral membrane protein that is localized to the trans-Golgi network, a major sorting station for secretory and membrane proteins. The encoded protein cycles between early endosomes and the trans-Golgi network, and may play a role in exocytic vesicle formation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] Annotation information Annotation category: suggests misassembly Expression Ubiquitous expression in kidney (RPKM 63.9), thyroid (RPKM 61.7) and 25 other tissues See more Orthologs mouse all
TGS1, Official Symbol TGS1provided by HGNC Official Full Name trimethylguanosine synthase 1provided by HGNC Primary source HGNC:HGNC:17843 See related Ensembl:ENSG00000137574 MIM:606461; AllianceGenome:HGNC:17843 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 PIMT; PIPMT; NCOA6IP Summary Enables RNA trimethylguanosine synthase activity. Involved in 7-methylguanosine cap hypermethylation. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 6.7), appendix (RPKM 5.1) and 25 other tissues See more Orthologs mouse all
TH, Official Symbol THprovided by HGNC Official Full Name tyrosine hydroxylaseprovided by HGNC Primary source HGNC:HGNC:11782 See related Ensembl:ENSG00000180176 MIM:191290; AllianceGenome:HGNC:11782 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 TYH; DYT14; DYT5b Summary The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] Expression Restricted expression toward adrenal (RPKM 42.8) See more Orthologs mouse all
TH2LCRR, Official Symbol TH2LCRRprovided by HGNC Official Full Name T helper type 2 locus control region associated RNAprovided by HGNC Primary source HGNC:HGNC:40495 See related Ensembl:ENSG00000223442 AllianceGenome:HGNC:40495 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TH2-LCR Expression Ubiquitous expression in testis (RPKM 5.8), thyroid (RPKM 3.5) and 25 other tissues See more
THADA, Official Symbol THADAprovided by HGNC Official Full Name THADA armadillo repeat containingprovided by HGNC Primary source HGNC:HGNC:19217 See related Ensembl:ENSG00000115970 MIM:611800; AllianceGenome:HGNC:19217 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 GITA; ARMC13; Trm732 Summary This gene is the target of 2p21 choromosomal aberrations in benign thyroid adenomas. Single nucleotide polymorphisms (SNPs) in this gene may be associated with type 2 diabetes and polycystic ovary syndrome. The encoded protein is likely involved in the death receptor pathway and apoptosis. [provided by RefSeq, Sep 2016] Expression Ubiquitous expression in lymph node (RPKM 6.5), thyroid (RPKM 6.2) and 25 other tissues See more Orthologs mouse all
THAP1, Official Symbol THAP1provided by HGNC Official Full Name THAP domain containing 1provided by HGNC Primary source HGNC:HGNC:20856 See related Ensembl:ENSG00000131931 MIM:609520; AllianceGenome:HGNC:20856 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 DYT6 Summary The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 7.0), thyroid (RPKM 5.5) and 25 other tissues See more Orthologs mouse all
THAP10, Official Symbol THAP10provided by HGNC Official Full Name THAP domain containing 10provided by HGNC Primary source HGNC:HGNC:23193 See related Ensembl:ENSG00000129028 MIM:612538; AllianceGenome:HGNC:23193 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 This gene encodes a member of a family of proteins sharing an N-terminal Thanatos-associated domain. The Thanatos-associated domain contains a zinc finger signature similar to DNA-binding domains. This gene is part of a bidirectional gene pair on the long arm of chromosome 15 that is regulated by estrogen and may play a role in breast cancer. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in brain (RPKM 3.1), thyroid (RPKM 2.1) and 24 other tissues See more Orthologs all
THAP11, Official Symbol THAP11provided by HGNC Official Full Name THAP domain containing 11provided by HGNC Primary source HGNC:HGNC:23194 See related Ensembl:ENSG00000168286 MIM:609119; AllianceGenome:HGNC:23194 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 RONIN; CTG-B43a; CTG-B45d; HRIHFB2206 Summary The protein encoded by this gene contains a THAP domain, which is a conserved DNA-binding domain that has striking similarity to the site-specific DNA-binding domain (DBD) of Drosophila P element transposases. [provided by RefSeq, Jul 2008] Orthologs mouse all
THAP12, Official Symbol THAP12provided by HGNC Official Full Name THAP domain containing 12provided by HGNC Primary source HGNC:HGNC:9440 See related Ensembl:ENSG00000137492 MIM:607374; AllianceGenome:HGNC:9440 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 DAP4; THAP0; PRKRIR; P52rIPK Summary Predicted to enable DNA binding activity; metal ion binding activity; and protein dimerization activity. Predicted to be involved in negative regulation of cell population proliferation and signal transduction. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 20.3), thyroid (RPKM 16.8) and 25 other tissues See more Orthologs mouse all
THAP12P1, Official Symbol THAP12P1provided by HGNC Official Full Name THAP domain containing 12 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39563 See related AllianceGenome:HGNC:39563 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 PRKRIRP1
THAP12P3, Official Symbol THAP12P3provided by HGNC Official Full Name THAP domain containing 12 pseudogene 3provided by HGNC Primary source HGNC:HGNC:39567 See related Ensembl:ENSG00000227972 AllianceGenome:HGNC:39567 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 PRKRIRP3
THAP12P4, Official Symbol THAP12P4provided by HGNC Official Full Name THAP domain containing 12 pseudogene 4provided by HGNC Primary source HGNC:HGNC:39568 See related AllianceGenome:HGNC:39568 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 PRKRIRP4
THAP12P5, Official Symbol THAP12P5provided by HGNC Official Full Name THAP domain containing 12 pseudogene 5provided by HGNC Primary source HGNC:HGNC:39569 See related Ensembl:ENSG00000218020 AllianceGenome:HGNC:39569 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 PRKRIRP5
THAP12P8, Official Symbol THAP12P8provided by HGNC Official Full Name THAP domain containing 12 pseudogene 8provided by HGNC Primary source HGNC:HGNC:39572 See related Ensembl:ENSG00000223963 AllianceGenome:HGNC:39572 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 PRKRIRP8
THAP12P9, Official Symbol THAP12P9provided by HGNC Official Full Name THAP domain containing 12 pseudogene 9provided by HGNC Primary source HGNC:HGNC:39573 See related AllianceGenome:HGNC:39573 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 PRKRIRP9
THAP2, Official Symbol THAP2provided by HGNC Official Full Name THAP domain containing 2provided by HGNC Primary source HGNC:HGNC:20854 See related Ensembl:ENSG00000173451 MIM:612531; AllianceGenome:HGNC:20854 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 DNA binding activity and metal ion binding activity. Located in nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 3.6), ovary (RPKM 2.6) and 24 other tissues See more Orthologs mouse all
THAP3, Official Symbol THAP3provided by HGNC Official Full Name THAP domain containing 3provided by HGNC Primary source HGNC:HGNC:20855 See related Ensembl:ENSG00000041988 MIM:612532; AllianceGenome:HGNC:20855 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 DNA binding activity and metal ion binding activity. Involved in positive regulation of transcription by RNA polymerase II. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 8.5), spleen (RPKM 6.2) and 25 other tissues See more Orthologs mouse all
THAP4, Official Symbol THAP4provided by HGNC Official Full Name THAP domain containing 4provided by HGNC Primary source HGNC:HGNC:23187 See related Ensembl:ENSG00000176946 MIM:612533; AllianceGenome:HGNC:23187 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 PP238; CGI-36; Nb(III) Summary Enables several functions, including heme binding activity; identical protein binding activity; and peroxynitrite isomerase activity. Involved in nitrate metabolic process and tyrosine metabolic process. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 14.3), heart (RPKM 13.9) and 25 other tissues See more Orthologs mouse all
THAP5, Official Symbol THAP5provided by HGNC Official Full Name THAP domain containing 5provided by HGNC Primary source HGNC:HGNC:23188 See related Ensembl:ENSG00000177683 MIM:612534; AllianceGenome:HGNC:23188 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 Enables protease binding activity. Involved in negative regulation of cell cycle and negative regulation of transcription by RNA polymerase II. Located in chromatin and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 13.7), testis (RPKM 10.7) and 25 other tissues See more Orthologs all
THAP6, Official Symbol THAP6provided by HGNC Official Full Name THAP domain containing 6provided by HGNC Primary source HGNC:HGNC:23189 See related Ensembl:ENSG00000174796 MIM:612535; AllianceGenome:HGNC:23189 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 DNA binding activity and metal ion binding activity. Located in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 3.8), thyroid (RPKM 3.0) and 25 other tissues See more Orthologs all
THAP7, Official Symbol THAP7provided by HGNC Official Full Name THAP domain containing 7provided by HGNC Primary source HGNC:HGNC:23190 See related Ensembl:ENSG00000184436 MIM:609518; AllianceGenome:HGNC:23190 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 Enables several functions, including C2H2 zinc finger domain binding activity; histone binding activity; and histone deacetylase binding activity. Involved in negative regulation of histone acetylation and negative regulation of transcription by RNA polymerase II. Located in nuclear membrane and nuclear speck. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 11.7), ovary (RPKM 8.9) and 25 other tissues See more Orthologs mouse all
THAP7-AS1, Official Symbol THAP7-AS1provided by HGNC Official Full Name THAP7 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41013 See related Ensembl:ENSG00000230513 AllianceGenome:HGNC:41013 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 testis (RPKM 1.8), ovary (RPKM 1.2) and 25 other tissues See more
THAP8, Official Symbol THAP8provided by HGNC Official Full Name THAP domain containing 8provided by HGNC Primary source HGNC:HGNC:23191 See related Ensembl:ENSG00000161277 MIM:612536; AllianceGenome:HGNC:23191 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 DNA binding activity and metal ion binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 4.3), endometrium (RPKM 2.2) and 25 other tissues See more Orthologs mouse all
THAP9, Official Symbol THAP9provided by HGNC Official Full Name THAP domain containing 9provided by HGNC Primary source HGNC:HGNC:23192 See related Ensembl:ENSG00000168152 MIM:612537; AllianceGenome:HGNC:23192 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 hTh9 Summary Enables sequence-specific DNA binding activity and transposase activity. Involved in DNA integration and transposition, DNA-mediated. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 2.9), thyroid (RPKM 1.5) and 25 other tissues See more Orthologs all
THAP9-AS1, Official Symbol THAP9-AS1provided by HGNC Official Full Name THAP9 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44172 See related Ensembl:ENSG00000251022 AllianceGenome:HGNC:44172 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 Ubiquitous expression in bone marrow (RPKM 18.2), thyroid (RPKM 14.2) and 25 other tissues See more
THBD, Official Symbol THBDprovided by HGNC Official Full Name thrombomodulinprovided by HGNC Primary source HGNC:HGNC:11784 See related Ensembl:ENSG00000178726 MIM:188040; AllianceGenome:HGNC:11784 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 TM; THRM; AHUS6; BDCA3; CD141; BDCA-3; THPH12 Summary The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008] Orthologs mouse all