psui3905/ncbi_genes_summary huggingface dataset:
THBS1, Official Symbol THBS1provided by HGNC Official Full Name thrombospondin 1provided by HGNC Primary source HGNC:HGNC:11785 See related Ensembl:ENSG00000137801 MIM:188060; AllianceGenome:HGNC:11785 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 TSP; THBS; TSP1; TSP-1; THBS-1 Summary The protein encoded by this gene is a subunit of a disulfide-linked homotrimeric protein. This protein is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein can bind to fibrinogen, fibronectin, laminin, type V collagen and integrins alpha-V/beta-1. This protein has been shown to play roles in platelet aggregation, angiogenesis, and tumorigenesis. [provided by RefSeq, Jul 2008] Expression Broad expression in appendix (RPKM 304.9), gall bladder (RPKM 219.5) and 16 other tissues See more Orthologs mouse all
THBS2, Official Symbol THBS2provided by HGNC Official Full Name thrombospondin 2provided by HGNC Primary source HGNC:HGNC:11786 See related Ensembl:ENSG00000186340 MIM:188061; AllianceGenome:HGNC:11786 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 TSP2 Summary The protein encoded by this gene belongs to the thrombospondin family. It is a disulfide-linked homotrimeric glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein has been shown to function as a potent inhibitor of tumor growth and angiogenesis. Studies of the mouse counterpart suggest that this protein may modulate the cell surface properties of mesenchymal cells and be involved in cell adhesion and migration. [provided by RefSeq, Jul 2008] Expression Broad expression in gall bladder (RPKM 49.1), endometrium (RPKM 31.3) and 18 other tissues See more Orthologs mouse all
THBS3, Official Symbol THBS3provided by HGNC Official Full Name thrombospondin 3provided by HGNC Primary source HGNC:HGNC:11787 See related Ensembl:ENSG00000169231 MIM:188062; AllianceGenome:HGNC:11787 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 TSP3 Summary The protein encoded by this gene belongs to the thrombospondin family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentameric molecule linked by a single disulfide bond. This gene shares a common promoter with metaxin 1. Alternate splicing results in coding and non-coding transcript variants. [provided by RefSeq, Nov 2011] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Ubiquitous expression in endometrium (RPKM 9.2), gall bladder (RPKM 7.8) and 25 other tissues See more Orthologs mouse all
THBS3-AS1, Official Symbol THBS3-AS1provided by HGNC Official Full Name THBS3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40582 See related Ensembl:ENSG00000231064 AllianceGenome:HGNC:40582 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Ubiquitous expression in testis (RPKM 5.9), endometrium (RPKM 5.8) and 25 other tissues See more
THBS4, Official Symbol THBS4provided by HGNC Official Full Name thrombospondin 4provided by HGNC Primary source HGNC:HGNC:11788 See related Ensembl:ENSG00000113296 MIM:600715; AllianceGenome:HGNC:11788 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 TSP4; TSP-4 Summary The protein encoded by this gene belongs to the thrombospondin protein family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentamer and can bind to heparin and calcium. It is involved in local signaling in the developing and adult nervous system, and it contributes to spinal sensitization and neuropathic pain states. This gene is activated during the stromal response to invasive breast cancer. It may also play a role in inflammatory responses in Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] Expression Biased expression in fat (RPKM 161.8), heart (RPKM 56.3) and 1 other tissue See more Orthologs mouse all
THBS4-AS1, Official Symbol THBS4-AS1provided by HGNC Official Full Name THBS4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40583 See related Ensembl:ENSG00000249825 AllianceGenome:HGNC:40583 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 CTD-2201I18.1 Expression Biased expression in fat (RPKM 11.9), heart (RPKM 4.6) and 4 other tissues See more
THCAT155, Gene symbol THCAT155 Gene description thyroid cancer-associated transcript 155 See related Ensembl:ENSG00000287243 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 1.1) See more
THEM4, Official Symbol THEM4provided by HGNC Official Full Name thioesterase superfamily member 4provided by HGNC Primary source HGNC:HGNC:17947 See related Ensembl:ENSG00000159445 MIM:606388; AllianceGenome:HGNC:17947 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 CTMP Summary Protein kinase B (PKB) is a major downstream target of receptor tyrosine kinases that signal via phosphatidylinositol 3-kinase. Upon cell stimulation, PKB is translocated to the plasma membrane, where it is phosphorylated in the C-terminal regulatory domain. The protein encoded by this gene negatively regulates PKB activity by inhibiting phosphorylation. Transcription of this gene is commonly downregulated in glioblastomas. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 4.4), testis (RPKM 3.1) and 25 other tissues See more Orthologs mouse all
THEM5, Official Symbol THEM5provided by HGNC Official Full Name thioesterase superfamily member 5provided by HGNC Primary source HGNC:HGNC:26755 See related Ensembl:ENSG00000196407 MIM:615653; AllianceGenome:HGNC:26755 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 ACOT15 Summary Enables palmitoyl-CoA hydrolase activity. Involved in long-chain fatty-acyl-CoA metabolic process. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 49.5) and brain (RPKM 1.6) See more Orthologs mouse all
THEM6, Official Symbol THEM6provided by HGNC Official Full Name thioesterase superfamily member 6provided by HGNC Primary source HGNC:HGNC:29656 See related Ensembl:ENSG00000130193 AllianceGenome:HGNC:29656 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 DSCD75; C8orf55 Summary Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 10.3), thyroid (RPKM 7.0) and 25 other tissues See more Orthologs mouse all
THEMIS, Official Symbol THEMISprovided by HGNC Official Full Name thymocyte selection associatedprovided by HGNC Primary source HGNC:HGNC:21569 See related Ensembl:ENSG00000172673 MIM:613607; AllianceGenome:HGNC:21569 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 GASP; SPOT; TSEPA; THEMIS1; C6orf190; C6orf207 Summary This gene encodes a protein that plays a regulatory role in both positive and negative T-cell selection during late thymocyte development. The protein functions through T-cell antigen receptor signaling, and is necessary for proper lineage commitment and maturation of T-cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] Expression Biased expression in lymph node (RPKM 2.2), appendix (RPKM 1.1) and 12 other tissues See more Orthologs mouse all
THEMIS2, Official Symbol THEMIS2provided by HGNC Official Full Name thymocyte selection associated family member 2provided by HGNC Primary source HGNC:HGNC:16839 See related Ensembl:ENSG00000130775 MIM:617856; AllianceGenome:HGNC:16839 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 ICB1; ICB-1; C1orf38 Summary Predicted to be involved in T cell receptor signaling pathway and regulation of B cell activation. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 58.1), spleen (RPKM 43.6) and 17 other tissues See more Orthologs mouse all
THEMIS3P, Official Symbol THEMIS3Pprovided by HGNC Official Full Name thymocyte selection associated family member 3, pseudogeneprovided by HGNC Primary source HGNC:HGNC:49196 See related AllianceGenome:HGNC:49196 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
THG1L, Official Symbol THG1Lprovided by HGNC Official Full Name tRNA-histidine guanylyltransferase 1 likeprovided by HGNC Primary source HGNC:HGNC:26053 See related Ensembl:ENSG00000113272 MIM:618802; AllianceGenome:HGNC:26053 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 IHG1; THG1; ICF45; IHG-1; hTHG1; SCAR28 Summary The protein encoded by this gene is a mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. The encoded protein appears to increase mitochondrial biogenesis, which could lead to renal fibrosis. Another function of this protein is that of a guanyltransferase, adding GMP to the 5' end of tRNA(His). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in thyroid (RPKM 4.1), colon (RPKM 3.8) and 25 other tissues See more Orthologs mouse all
THNSL1, Official Symbol THNSL1provided by HGNC Official Full Name threonine synthase like 1provided by HGNC Primary source HGNC:HGNC:26160 See related Ensembl:ENSG00000185875 MIM:611260; AllianceGenome:HGNC:26160 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 TSH1 Expression Ubiquitous expression in liver (RPKM 5.2), thyroid (RPKM 5.2) and 24 other tissues See more Orthologs mouse all
THNSL2, Official Symbol THNSL2provided by HGNC Official Full Name threonine synthase like 2provided by HGNC Primary source HGNC:HGNC:25602 See related Ensembl:ENSG00000144115 MIM:611261; AllianceGenome:HGNC:25602 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 THS2; TSH2; SOFAT Summary This gene encodes a threonine synthase-like protein. A similar enzyme in mouse can catalyze the degradation of O-phospho-homoserine to a-ketobutyrate, phosphate, and ammonia. This protein also has phospho-lyase activity on both gamma and beta phosphorylated substrates. In mouse an alternatively spliced form of this protein has been shown to act as a cytokine and can induce the production of the inflammatory cytokine IL6 in osteoblasts. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] Expression Ubiquitous expression in kidney (RPKM 9.9), thyroid (RPKM 9.5) and 24 other tissues See more Orthologs mouse all
THOC1, Official Symbol THOC1provided by HGNC Official Full Name THO complex subunit 1provided by HGNC Primary source HGNC:HGNC:19070 See related Ensembl:ENSG00000079134 MIM:606930; AllianceGenome:HGNC:19070 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 P84; HPR1; P84N5; DFNA86 Summary Predicted to enable DNA binding activity and RNA binding activity. Involved in several processes, including negative regulation of DNA damage checkpoint; regulation of nucleobase-containing compound metabolic process; and viral mRNA export from host cell nucleus. Located in cytoplasm and nuclear speck. Part of THO complex part of transcription export complex. Colocalizes with chromosome, telomeric region. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 6.7), bone marrow (RPKM 6.1) and 25 other tissues See more Orthologs mouse all
THOC2, Official Symbol THOC2provided by HGNC Official Full Name THO complex subunit 2provided by HGNC Primary source HGNC:HGNC:19073 See related Ensembl:ENSG00000125676 MIM:300395; AllianceGenome:HGNC:19073 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 THO2; MRX12; MRX35; CXorf3; XLID12; hTREX120; dJ506G2.1 Summary The TREX multiprotein complex binds specifically to spliced mRNAs to facilitate mRNA export. The protein encoded by this gene is a member of the THO complex, a subset of the TREX complex. The encoded protein interacts with the THOC1 protein.[provided by RefSeq, Jun 2010] Expression Ubiquitous expression in lymph node (RPKM 8.1), thyroid (RPKM 7.3) and 25 other tissues See more Orthologs mouse all
THOC3, Official Symbol THOC3provided by HGNC Official Full Name THO complex subunit 3provided by HGNC Primary source HGNC:HGNC:19072 See related Ensembl:ENSG00000051596 MIM:606929; AllianceGenome:HGNC:19072 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 THO3; hTREX45 Summary This gene encodes a component of the nuclear THO transcription elongation complex, which is part of the larger transcription export (TREX) complex that couples messenger RNA processing and export. In humans, the transcription export complex is recruited to the 5'-end of messenger RNAs in a splicing- and cap-dependent manner. Studies of a related complex in mouse suggest that the metazoan transcription export complex is involved in cell differentiation and development. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, May 2013] Expression Ubiquitous expression in esophagus (RPKM 29.0), testis (RPKM 21.2) and 24 other tissues See more Orthologs mouse all
THOC3-AS1, Official Symbol THOC3-AS1provided by HGNC Official Full Name THOC3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40866 See related AllianceGenome:HGNC:40866 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 1.3) See more
THOC5, Official Symbol THOC5provided by HGNC Official Full Name THO complex subunit 5provided by HGNC Primary source HGNC:HGNC:19074 See related Ensembl:ENSG00000100296 MIM:612733; AllianceGenome:HGNC:19074 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 Fmip; PK1.3; fSAP79; C22orf19 Summary Predicted to enable mRNA binding activity. Involved in several processes, including monocyte differentiation; negative regulation of DNA damage checkpoint; and viral mRNA export from host cell nucleus. Located in nucleoplasm. Part of THO complex part of transcription export complex. Colocalizes with chromosome, telomeric region. Implicated in breast carcinoma. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 10.3), endometrium (RPKM 6.9) and 25 other tissues See more Orthologs mouse all
THOC6, Official Symbol THOC6provided by HGNC Official Full Name THO complex subunit 6provided by HGNC Primary source HGNC:HGNC:28369 See related Ensembl:ENSG00000131652 MIM:615403; AllianceGenome:HGNC:28369 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 WDR58; fSAP35; MMRFCGU Summary This gene encodes a subunit of the multi-protein THO complex, which is involved in coordination between transcription and mRNA processing. The THO complex is a component of the TREX (transcription/export) complex, which is involved in transcription and export of mRNAs. A missense mutation in this gene is associated with a neurodevelopmental disorder called Beaulieu-Boycott-Innes syndrome. [provided by RefSeq, Dec 2016] Expression Ubiquitous expression in placenta (RPKM 12.6), skin (RPKM 10.4) and 25 other tissues See more Orthologs mouse all
THOC7, Official Symbol THOC7provided by HGNC Official Full Name THO complex subunit 7provided by HGNC Primary source HGNC:HGNC:29874 See related Ensembl:ENSG00000163634 MIM:611965; AllianceGenome:HGNC:29874 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 fSAP24; hTREX30; NIF3L1BP1 Summary Predicted to enable RNA binding activity. Involved in mRNA export from nucleus and viral mRNA export from host cell nucleus. Located in cytosol and nuclear speck. Part of THO complex part of transcription export complex. Colocalizes with chromosome, telomeric region. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 20.0), colon (RPKM 19.8) and 25 other tissues See more Orthologs mouse all
THOC7-AS1, Official Symbol THOC7-AS1provided by HGNC Official Full Name THOC7 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41249 See related Ensembl:ENSG00000240549 AllianceGenome:HGNC:41249 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
THOP1, Official Symbol THOP1provided by HGNC Official Full Name thimet oligopeptidase 1provided by HGNC Primary source HGNC:HGNC:11793 See related Ensembl:ENSG00000172009 MIM:601117; AllianceGenome:HGNC:11793 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 TOP; MP78; EP24.15; MEPD_HUMAN Summary The protein encoded by this gene is a kininase that uses zinc as a cofactor. The encoded oligopeptidase cleaves cytosolic peptides, making them unavailable for display on antigen-presenting cells. This protein also cleaves neuropeptides under 20 aa in length and can degrade beta-amyloid precursor protein to amyloidogenic peptides. [provided by RefSeq, Nov 2015] Expression Broad expression in testis (RPKM 14.1), brain (RPKM 6.4) and 24 other tissues See more Orthologs mouse all
THORLNC, Official Symbol THORLNCprovided by HGNC Official Full Name testis associated oncogenic lncRNAprovided by HGNC Primary source HGNC:HGNC:53788 See related Ensembl:ENSG00000226856 MIM:619296; AllianceGenome:HGNC:53788 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 THOR Expression Restricted expression toward testis (RPKM 7.6) See more
THPO, Official Symbol THPOprovided by HGNC Official Full Name thrombopoietinprovided by HGNC Primary source HGNC:HGNC:11795 See related Ensembl:ENSG00000090534 MIM:600044; AllianceGenome:HGNC:11795 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 ML; TPO; MGDF; THC9; CAMT2; MKCSF; MPLLG; THCYT1 Summary Megakaryocytopoiesis is the cellular development process that leads to platelet production. The main functional protein encoded by this gene is a humoral growth factor that is necessary for megakaryocyte proliferation and maturation, as well as for thrombopoiesis. This protein is the ligand for MLP/C_MPL, the product of myeloproliferative leukemia virus oncogene. Mutations in this gene are the cause of thrombocythemia 1. Alternative promoter usage and differential splicing result in multiple transcript variants differing in the 5' UTR and/or coding region. Multiple AUG codons upstream of the main open reading frame (ORF) have been identified, and these upstream AUGs inhibit translation of the main ORF at different extent. [provided by RefSeq, Feb 2014] Annotation information Note: TPO (Gene ID: 7173) and THPO (Gene ID: 7066) share the TPO symbol/alias in common. TPO is a widely used alternative name for thrombopoietin (THPO), which can be confused with the official symbol for TPO, thyroid peroxidase. [27 Jun 2018] Expression Biased expression in liver (RPKM 4.4), testis (RPKM 1.1) and 9 other tissues See more Orthologs mouse all
THRA, Official Symbol THRAprovided by HGNC Official Full Name thyroid hormone receptor alphaprovided by HGNC Primary source HGNC:HGNC:11796 See related Ensembl:ENSG00000126351 MIM:190120; AllianceGenome:HGNC:11796 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 AR7; EAR7; ERBA; CHNG6; ERBA1; NR1A1; THRA1; THRA2; c-erbA; ERB-T-1; TRalpha; THRalpha; TRalpha1; TRalpha2; c-ERBA-1; THRalpha1; THRalpha2 Summary The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 66.6), ovary (RPKM 38.9) and 23 other tissues See more Orthologs mouse all
THRAP3, Official Symbol THRAP3provided by HGNC Official Full Name thyroid hormone receptor associated protein 3provided by HGNC Primary source HGNC:HGNC:22964 See related Ensembl:ENSG00000054118 MIM:603809; AllianceGenome:HGNC:22964 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 BCLAF2; TRAP150 Summary Enables phosphoprotein binding activity; thyroid hormone receptor binding activity; and transcription coactivator activity. Involved in nuclear-transcribed mRNA catabolic process; positive regulation of circadian rhythm; and regulation of RNA metabolic process. Acts upstream of or within positive regulation of transcription by RNA polymerase II. Located in nuclear speck. Part of mediator complex. Colocalizes with exon-exon junction complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 27.3), thyroid (RPKM 26.7) and 25 other tissues See more Orthologs mouse all
THRAP3P1, Official Symbol THRAP3P1provided by HGNC Official Full Name THRAP3 pseudogene 1provided by HGNC Primary source HGNC:HGNC:32386 See related Ensembl:ENSG00000227339 AllianceGenome:HGNC:32386 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 THRAP3L
THRAP3P2, Official Symbol THRAP3P2provided by HGNC Official Full Name THRAP3 pseudogene 2provided by HGNC Primary source HGNC:HGNC:54830 See related Ensembl:ENSG00000259057 AllianceGenome:HGNC:54830 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
THRAP3P3, Official Symbol THRAP3P3provided by HGNC Official Full Name THRAP3 pseudogene 3provided by HGNC Primary source HGNC:HGNC:54834 See related Ensembl:ENSG00000235920 AllianceGenome:HGNC:54834 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
THRB, Official Symbol THRBprovided by HGNC Official Full Name thyroid hormone receptor betaprovided by HGNC Primary source HGNC:HGNC:11799 See related Ensembl:ENSG00000151090 MIM:190160; AllianceGenome:HGNC:11799 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 TRb; GRTH; PRTH; THR1; ERBA2; NR1A2; THRB1; THRB2; TRbeta; THRbeta; TRbeta1; C-ERBA-2; THRbeta1; Thrbeta2; C-ERBA-BETA Summary The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 8.1), fat (RPKM 4.3) and 22 other tissues See more Orthologs mouse all
THRIL, Official Symbol THRILprovided by HGNC Official Full Name TNF and HNRNPL related immunoregulatory long non-coding RNAprovided by HGNC Primary source HGNC:HGNC:49503 See related Ensembl:ENSG00000280634 MIM:615622; AllianceGenome:HGNC:49503 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 Linc1992; BRI3BPAS1; BRI3BP-AS1; TCONS_00020260
THRSP, Official Symbol THRSPprovided by HGNC Official Full Name thyroid hormone responsiveprovided by HGNC Primary source HGNC:HGNC:11800 See related Ensembl:ENSG00000151365 MIM:601926; AllianceGenome:HGNC:11800 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 S14; Lpgp; THRP; LPGP1; SPOT14 Summary The protein encoded by this gene is similar to the gene product of S14, a rat gene whose expression is limited to liver and adipose tissue and is controlled by nutritional and hormonal factors. This gene has been shown to be expressed in liver and adipocytes, particularly in lipomatous modules. It is also found to be expressed in lipogenic breast cancers, which suggests a role in controlling tumor lipid metabolism. [provided by RefSeq, Jul 2008] Expression Biased expression in fat (RPKM 186.6) and liver (RPKM 77.1) See more Orthologs mouse all
THSD1, Official Symbol THSD1provided by HGNC Official Full Name thrombospondin type 1 domain containing 1provided by HGNC Primary source HGNC:HGNC:17754 See related Ensembl:ENSG00000136114 MIM:616821; AllianceGenome:HGNC:17754 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 TMTSP; ANIB12; LMPHM13; UNQ3010 Summary The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jan 2009] Expression Broad expression in lung (RPKM 7.5), placenta (RPKM 5.7) and 21 other tissues See more Orthologs mouse all
THSD4, Official Symbol THSD4provided by HGNC Official Full Name thrombospondin type 1 domain containing 4provided by HGNC Primary source HGNC:HGNC:25835 See related Ensembl:ENSG00000187720 MIM:614476; AllianceGenome:HGNC:25835 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 AAT12; ADAMTSL6; FVSY9334; PRO34005; ADAMTSL-6 Summary Predicted to enable hydrolase activity. Predicted to be an extracellular matrix structural constituent. Predicted to act upstream of or within elastic fiber assembly. Located in collagen-containing extracellular matrix and extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in esophagus (RPKM 9.7), prostate (RPKM 9.0) and 20 other tissues See more Orthologs mouse all
THSD4-AS1, Official Symbol THSD4-AS1provided by HGNC Official Full Name THSD4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51420 See related Ensembl:ENSG00000259964 AllianceGenome:HGNC:51420 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward brain (RPKM 1.8) See more
THSD7A, Official Symbol THSD7Aprovided by HGNC Official Full Name thrombospondin type 1 domain containing 7Aprovided by HGNC Primary source HGNC:HGNC:22207 See related Ensembl:ENSG00000005108 MIM:612249; AllianceGenome:HGNC:22207 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 found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010] Expression Broad expression in kidney (RPKM 4.1), placenta (RPKM 2.1) and 17 other tissues See more Orthologs mouse all
THSD7B, Official Symbol THSD7Bprovided by HGNC Official Full Name thrombospondin type 1 domain containing 7Bprovided by HGNC Primary source HGNC:HGNC:29348 See related Ensembl:ENSG00000144229 AllianceGenome:HGNC:29348 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be involved in actin cytoskeleton reorganization. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in fat (RPKM 1.4), thyroid (RPKM 0.5) and 11 other tissues See more Orthologs mouse all
THSD8, Official Symbol THSD8provided by HGNC Official Full Name thrombospondin type 1 domain containing 8provided by HGNC Primary source HGNC:HGNC:53785 See related Ensembl:ENSG00000284491 AllianceGenome:HGNC:53785 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 Orthologs all
THTPA, Official Symbol THTPAprovided by HGNC Official Full Name thiamine triphosphataseprovided by HGNC Primary source HGNC:HGNC:18987 See related Ensembl:ENSG00000259431 MIM:611612; AllianceGenome:HGNC:18987 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 THTP; THTPASE Summary This gene encodes an enzyme which catalyzes the biosynthesis of thiamine disphophate (vitamin B1) by hydrolysis of thiamine triphosphate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in testis (RPKM 8.5), prostate (RPKM 7.8) and 25 other tissues See more Orthologs mouse all
THUMPD1, Official Symbol THUMPD1provided by HGNC Official Full Name THUMP domain containing 1provided by HGNC Primary source HGNC:HGNC:23807 See related Ensembl:ENSG00000066654 MIM:616662; AllianceGenome:HGNC:23807 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 Tan1; NEDSOA Summary Enables RNA binding activity. Predicted to be involved in tRNA modification. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 15.3), endometrium (RPKM 11.9) and 25 other tissues See more Orthologs mouse all
THUMPD2, Official Symbol THUMPD2provided by HGNC Official Full Name THUMP domain containing 2provided by HGNC Primary source HGNC:HGNC:14890 See related Ensembl:ENSG00000138050 MIM:611751; AllianceGenome:HGNC:14890 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 C2orf8 Summary Predicted to enable tRNA (guanine) methyltransferase activity. Predicted to be involved in tRNA methylation. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 6.9), ovary (RPKM 4.8) and 25 other tissues See more Orthologs mouse all
THUMPD3, Official Symbol THUMPD3provided by HGNC Official Full Name THUMP domain containing 3provided by HGNC Primary source HGNC:HGNC:24493 See related Ensembl:ENSG00000134077 AllianceGenome:HGNC:24493 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 tRNA (guanine) methyltransferase activity. Predicted to be involved in tRNA methylation. Located in cytosol and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 18.1), thyroid (RPKM 8.7) and 25 other tissues See more Orthologs mouse all
THUMPD3-AS1, Official Symbol THUMPD3-AS1provided by HGNC Official Full Name THUMPD3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44478 See related Ensembl:ENSG00000206573 AllianceGenome:HGNC:44478 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 SETD5-AS1 Expression Ubiquitous expression in thyroid (RPKM 8.8), prostate (RPKM 8.4) and 25 other tissues See more Orthologs mouse all
THY1, Official Symbol THY1provided by HGNC Official Full Name Thy-1 cell surface antigenprovided by HGNC Primary source HGNC:HGNC:11801 See related Ensembl:ENSG00000154096 MIM:188230; AllianceGenome:HGNC:11801 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 CD90; CDw90 Summary This gene encodes a cell surface glycoprotein and member of the immunoglobulin superfamily of proteins. The encoded protein is involved in cell adhesion and cell communication in numerous cell types, but particularly in cells of the immune and nervous systems. The encoded protein is widely used as a marker for hematopoietic stem cells. This gene may function as a tumor suppressor in nasopharyngeal carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015] Expression Broad expression in brain (RPKM 87.8), kidney (RPKM 58.0) and 16 other tissues See more Orthologs mouse all
THY1-AS1, Official Symbol THY1-AS1provided by HGNC Official Full Name THY1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:54852 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
THYN1, Official Symbol THYN1provided by HGNC Official Full Name thymocyte nuclear protein 1provided by HGNC Primary source HGNC:HGNC:29560 See related Ensembl:ENSG00000151500 MIM:613739; AllianceGenome:HGNC:29560 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 MY105; THY28; MDS012; HSPC144; THY28KD Summary This gene encodes a protein that is highly conserved among vertebrates and plant species and may be involved in the induction of apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 21.0), ovary (RPKM 20.9) and 25 other tissues See more Orthologs mouse all
TIA1, Official Symbol TIA1provided by HGNC Official Full Name TIA1 cytotoxic granule associated RNA binding proteinprovided by HGNC Primary source HGNC:HGNC:11802 See related Ensembl:ENSG00000116001 MIM:603518; AllianceGenome:HGNC:11802 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 WDM; ALS26; TIA-1 Summary The product encoded by this gene is a member of a RNA-binding protein family and possesses nucleolytic activity against cytotoxic lymphocyte (CTL) target cells. It has been suggested that this protein may be involved in the induction of apoptosis as it preferentially recognizes poly(A) homopolymers and induces DNA fragmentation in CTL targets. The major granule-associated species is a 15-kDa protein that is thought to be derived from the carboxyl terminus of the 40-kDa product by proteolytic processing. Alternative splicing resulting in different isoforms has been found for this gene. [provided by RefSeq, May 2017] Expression Ubiquitous expression in endometrium (RPKM 25.4), ovary (RPKM 18.9) and 25 other tissues See more Orthologs mouse all
TIAL1, Official Symbol TIAL1provided by HGNC Official Full Name TIA1 cytotoxic granule associated RNA binding protein like 1provided by HGNC Primary source HGNC:HGNC:11804 See related Ensembl:ENSG00000151923 MIM:603413; AllianceGenome:HGNC:11804 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 TCBP; TIAR Summary The protein encoded by this gene is a member of a family of RNA-binding proteins, has three RNA recognition motifs (RRMs), and binds adenine and uridine-rich elements in mRNA and pre-mRNAs of a wide range of genes. It regulates various activities including translational control, splicing and apoptosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The different isoforms have been show to function differently with respect to post-transcriptional silencing. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 14.6), lymph node (RPKM 14.0) and 25 other tissues See more Orthologs mouse all
TIAM1, Official Symbol TIAM1provided by HGNC Official Full Name TIAM Rac1 associated GEF 1provided by HGNC Primary source HGNC:HGNC:11805 See related Ensembl:ENSG00000156299 MIM:600687; AllianceGenome:HGNC:11805 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 NEDLDS; TIAM-1 Summary This gene encodes a RAC1-specific guanine nucleotide exchange factor (GEF). GEFs mediate the exchange of guanosine diphosphate (GDP) for guanosine triphosphate (GTP). The binding of GTP induces a conformational change in RAC1 that allows downstream effectors to bind and transduce a signal. This gene thus regulates RAC1 signaling pathways that affect cell shape, migration, adhesion, growth, survival, and polarity, as well as influencing actin cytoskeletal formation, endocytosis, and membrane trafficking. This gene thus plays an important role in cell invasion, metastasis, and carcinogenesis. In addition to RAC1, the encoded protein activates additional Rho-like GTPases such as CDC42, RAC2, RAC3 and RHOA. This gene encodes multiple protein isoforms that experience a diverse array of intramolecular, protein-protein, and phosphorylation interactions as well as phosphoinositide binding. Both the longer and shorter isoforms have C-terminal Dbl homology (DH) and pleckstrin homology (PH) domains while only the longer isoforms of this gene have the N-terminal myristoylation site and the downstream N-terminal PH domain, ras-binding domain (RBD), and PSD-95/DlgA/ZO-1 (PDZ) domain. [provided by RefSeq, Jul 2017] Expression Broad expression in esophagus (RPKM 7.7), skin (RPKM 6.8) and 23 other tissues See more Orthologs mouse all
TIAM2, Official Symbol TIAM2provided by HGNC Official Full Name TIAM Rac1 associated GEF 2provided by HGNC Primary source HGNC:HGNC:11806 See related Ensembl:ENSG00000146426 MIM:604709; AllianceGenome:HGNC:11806 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 STEF; TIAM-2 Summary This gene encodes a guanine nucleotide exchange factor. A highly similar mouse protein specifically activates ras-related C3 botulinum substrate 1, converting this Rho-like guanosine triphosphatase (GTPase) from a guanosine diphosphate-bound inactive state to a guanosine triphosphate-bound active state. The encoded protein may play a role in neural cell development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 5.7), brain (RPKM 4.1) and 18 other tissues See more Orthologs mouse all
TICAM1, Official Symbol TICAM1provided by HGNC Official Full Name TIR domain containing adaptor molecule 1provided by HGNC Primary source HGNC:HGNC:18348 See related Ensembl:ENSG00000127666 MIM:607601; AllianceGenome:HGNC:18348 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 TRIF; IIAE6; MyD88-3; PRVTIRB; TICAM-1 Summary This gene encodes an adaptor protein containing a Toll/interleukin-1 receptor (TIR) homology domain, which is an intracellular signaling domain that mediates protein-protein interactions between the Toll-like receptors (TLRs) and signal-transduction components. This protein is involved in native immunity against invading pathogens. It specifically interacts with toll-like receptor 3, but not with other TLRs, and this association mediates dsRNA induction of interferon-beta through activation of nuclear factor kappa-B, during an antiviral immune response. Mutations in this gene are associated with encephalopathy, acute, infection-induced. [provided by RefSeq, Jul 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Ubiquitous expression in esophagus (RPKM 10.4), duodenum (RPKM 6.7) and 25 other tissues See more Orthologs mouse all