psui3905/ncbi_genes_summary huggingface dataset:
TBCC, Official Symbol TBCCprovided by HGNC Official Full Name tubulin folding cofactor Cprovided by HGNC Primary source HGNC:HGNC:11580 See related Ensembl:ENSG00000124659 MIM:602971; AllianceGenome:HGNC:11580 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 CFC Summary Cofactor C is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008] Orthologs mouse all
TBCCD1, Official Symbol TBCCD1provided by HGNC Official Full Name TBCC domain containing 1provided by HGNC Primary source HGNC:HGNC:25546 See related Ensembl:ENSG00000113838 MIM:619848; AllianceGenome:HGNC:25546 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 Involved in several processes, including maintenance of Golgi location; maintenance of centrosome location; and regulation of cell shape. Located in spindle pole centrosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 10.9), thyroid (RPKM 4.7) and 25 other tissues See more Orthologs mouse all
TBCD, Official Symbol TBCDprovided by HGNC Official Full Name tubulin folding cofactor Dprovided by HGNC Primary source HGNC:HGNC:11581 See related Ensembl:ENSG00000141556 MIM:604649; AllianceGenome:HGNC:11581 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 tfcD; PEBAT; SSD-1 Summary Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 5.2), thyroid (RPKM 5.0) and 25 other tissues See more Orthologs mouse all
TBCE, Official Symbol TBCEprovided by HGNC Official Full Name tubulin folding cofactor Eprovided by HGNC Primary source HGNC:HGNC:11582 See related Ensembl:ENSG00000284770 MIM:604934; AllianceGenome:HGNC:11582 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 HRD; KCS; KCS1; pac2; PEAMO Summary Cofactor E is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 12.9), testis (RPKM 6.5) and 25 other tissues See more Orthologs mouse all
TBCEL, Official Symbol TBCELprovided by HGNC Official Full Name tubulin folding cofactor E likeprovided by HGNC Primary source HGNC:HGNC:28115 See related Ensembl:ENSG00000154114 MIM:610451; AllianceGenome:HGNC:28115 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 El; LRRC35 Summary Predicted to enable alpha-tubulin binding activity. Predicted to be involved in microtubule cytoskeleton organization; post-chaperonin tubulin folding pathway; and tubulin complex assembly. Predicted to be located in cytoskeleton. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 8.9), thyroid (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
TBCEL-TECTA, Official Symbol TBCEL-TECTAprovided by HGNC Official Full Name TBCEL-TECTA readthroughprovided by HGNC Primary source HGNC:HGNC:54857 See related AllianceGenome:HGNC:54857 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 alpha-tubulin binding activity. Predicted to be involved in microtubule cytoskeleton organization; post-chaperonin tubulin folding pathway; and tubulin complex assembly. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
TBCK, Official Symbol TBCKprovided by HGNC Official Full Name TBC1 domain containing kinaseprovided by HGNC Primary source HGNC:HGNC:28261 See related Ensembl:ENSG00000145348 MIM:616899; AllianceGenome:HGNC:28261 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 TBCKL; IHPRF3; HSPC302 Summary This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Expression Ubiquitous expression in ovary (RPKM 5.5), thyroid (RPKM 5.1) and 25 other tissues See more Orthologs mouse all
TBILA, Official Symbol TBILAprovided by HGNC Official Full Name TGF-beta induced lncRNAprovided by HGNC Primary source HGNC:HGNC:53943 See related Ensembl:ENSG00000261488 AllianceGenome:HGNC:53943 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TBK1, Official Symbol TBK1provided by HGNC Official Full Name TANK binding kinase 1provided by HGNC Primary source HGNC:HGNC:11584 See related Ensembl:ENSG00000183735 MIM:604834; AllianceGenome:HGNC:11584 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 NAK; T2K; IIAE8; FTDALS4 Summary The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. The protein is also an important kinase for antiviral innate immunity response. [provided by RefSeq, Sep 2021] 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 testis (RPKM 15.8), bone marrow (RPKM 10.3) and 25 other tissues See more Orthologs mouse all
TBKBP1, Official Symbol TBKBP1provided by HGNC Official Full Name TBK1 binding protein 1provided by HGNC Primary source HGNC:HGNC:30140 See related Ensembl:ENSG00000198933 MIM:608476; AllianceGenome:HGNC:30140 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 SINTBAD; ProSAPiP2 Summary TBKBP1 is an adaptor protein that binds to TBK1 (MIM 604834) and is part of the interaction network in the TNF (MIM 191160)/NFKB (see MIM 164011) pathway (Bouwmeester et al., 2004 [PubMed 14743216]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in brain (RPKM 4.8), fat (RPKM 4.5) and 25 other tissues See more Orthologs mouse all
TBL1X, Official Symbol TBL1Xprovided by HGNC Official Full Name transducin beta like 1 X-linkedprovided by HGNC Primary source HGNC:HGNC:11585 See related Ensembl:ENSG00000101849 MIM:300196; AllianceGenome:HGNC:11585 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 EBI; TBL1; CHNG8; SMAP55 Summary The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq, Nov 2008] Expression Ubiquitous expression in endometrium (RPKM 23.1), prostate (RPKM 12.2) and 24 other tissues See more Orthologs all
TBL1XR1, Official Symbol TBL1XR1provided by HGNC Official Full Name TBL1X/Y related 1provided by HGNC Primary source HGNC:HGNC:29529 See related Ensembl:ENSG00000177565 MIM:608628; AllianceGenome:HGNC:29529 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 C21; DC42; IRA1; MRD41; TBLR1 Summary This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in thyroid (RPKM 21.1), prostate (RPKM 13.2) and 25 other tissues See more Orthologs mouse all
TBL1XR1-AS1, Official Symbol TBL1XR1-AS1provided by HGNC Official Full Name TBL1XR1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41243 See related Ensembl:ENSG00000231310 AllianceGenome:HGNC:41243 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TBL1Y, Official Symbol TBL1Yprovided by HGNC Official Full Name transducin beta like 1 Y-linkedprovided by HGNC Primary source HGNC:HGNC:18502 See related Ensembl:ENSG00000092377 MIM:400033; AllianceGenome:HGNC:18502 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 TBL1; DFNY2 Summary The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene is highly similar to TBL1X gene in nucleotide sequence and protein sequence, but the TBL1X gene is located on chromosome X and this gene is on chromosome Y. This gene has three alternatively spliced transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs all
TBL1YP1, Official Symbol TBL1YP1provided by HGNC Official Full Name transducin beta like 1 Y-linked pseudogene 1provided by HGNC Primary source HGNC:HGNC:23979 See related Ensembl:ENSG00000225624 AllianceGenome:HGNC:23979 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 TBL1YP
TBL2, Official Symbol TBL2provided by HGNC Official Full Name transducin beta like 2provided by HGNC Primary source HGNC:HGNC:11586 See related Ensembl:ENSG00000106638 MIM:605842; AllianceGenome:HGNC:11586 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 WBSCR13; WS-betaTRP Summary This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 54.0), thyroid (RPKM 6.5) and 21 other tissues See more Orthologs mouse all
TBL3, Official Symbol TBL3provided by HGNC Official Full Name transducin beta like 3provided by HGNC Primary source HGNC:HGNC:11587 See related Ensembl:ENSG00000183751 MIM:605915; AllianceGenome:HGNC:11587 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 SAZD; UTP13 Summary The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene has multiple polyadenylation sites. It might have multiple alternatively spliced transcript variants but the variants have not been fully described yet. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 14.6), skin (RPKM 6.9) and 25 other tissues See more Orthologs mouse all
TBP, Official Symbol TBPprovided by HGNC Official Full Name TATA-box binding proteinprovided by HGNC Primary source HGNC:HGNC:11588 See related Ensembl:ENSG00000112592 MIM:600075; AllianceGenome:HGNC:11588 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 HDL4; TBP1; GTF2D; SCA17; TFIID; GTF2D1 Summary Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes TBP, the TATA-binding protein. A distinctive feature of TBP is a long string of glutamines in the N-terminus. This region of the protein modulates the DNA binding activity of the C terminus, and modulation of DNA binding affects the rate of transcription complex formation and initiation of transcription. The number of CAG repeats encoding the polyglutamine tract is usually 25-42, and expansion of the number of repeats to 45-66 increases the length of the polyglutamine string and is associated with spinocerebellar ataxia 17, a neurodegenerative disorder classified as a polyglutamine disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2016] Expression Broad expression in testis (RPKM 21.7), lymph node (RPKM 7.6) and 24 other tissues See more Orthologs mouse all
TBPL1, Official Symbol TBPL1provided by HGNC Official Full Name TATA-box binding protein like 1provided by HGNC Primary source HGNC:HGNC:11589 See related Ensembl:ENSG00000028839 MIM:605521; AllianceGenome:HGNC:11589 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 TLF; TLP; STUD; TRF2; MGC:8389; MGC:9620 Summary This gene encodes a member of the TATA box-binding protein family. TATA box-binding proteins play a critical role in transcription by RNA polymerase II as components of the transcription factor IID (TFIID) complex. The encoded protein does not bind to the TATA box and initiates transcription from TATA-less promoters. This gene plays a critical role in spermatogenesis, and single nucleotide polymorphisms in this gene may be associated with male infertility. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Nov 2011] Expression Broad expression in testis (RPKM 58.3), bone marrow (RPKM 8.1) and 20 other tissues See more Orthologs mouse all
TBPL2, Official Symbol TBPL2provided by HGNC Official Full Name TATA-box binding protein like 2provided by HGNC Primary source HGNC:HGNC:19841 See related Ensembl:ENSG00000182521 MIM:608964; AllianceGenome:HGNC:19841 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 TBP2; TRF3 Summary Predicted to enable RNA polymerase II general transcription initiation factor activity. Predicted to be involved in DNA-templated transcription, initiation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
TBR1, Official Symbol TBR1provided by HGNC Official Full Name T-box brain transcription factor 1provided by HGNC Primary source HGNC:HGNC:11590 See related Ensembl:ENSG00000136535 MIM:604616; AllianceGenome:HGNC:11590 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 AUTS5; IDDAS; TBR-1; TES-56 Summary This gene is a member of a conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of numerous developmental processes. In mouse, the ortholog of this gene is expressed in the cerebral cortex, hippocampus, amygdala and olfactory bulb and is thought to play an important role in neuronal migration and axonal projection. In mouse, the C-terminal region of this protein was found to be necessary and sufficient for association with the guanylate kinase domain of calcium/calmodulin-dependent serine protein kinase. [provided by RefSeq, Dec 2015] Expression Restricted expression toward brain (RPKM 13.1) See more Orthologs mouse all
TBRG1, Official Symbol TBRG1provided by HGNC Official Full Name transforming growth factor beta regulator 1provided by HGNC Primary source HGNC:HGNC:29551 See related Ensembl:ENSG00000154144 MIM:610614; AllianceGenome:HGNC:29551 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 NIAM; TB-5 Summary Involved in several processes, including DNA replication; protein localization to nucleoplasm; and protein stabilization. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 12.4), spleen (RPKM 9.3) and 25 other tissues See more Orthologs mouse all
TBRG4, Official Symbol TBRG4provided by HGNC Official Full Name transforming growth factor beta regulator 4provided by HGNC Primary source HGNC:HGNC:17443 See related Ensembl:ENSG00000136270 MIM:611325; AllianceGenome:HGNC:17443 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 CPR2; FASTKD4 Summary Enables RNA binding activity. Involved in mitochondrial mRNA processing and regulation of mitochondrial mRNA stability. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 18.2), duodenum (RPKM 14.9) and 25 other tissues See more Orthologs mouse all
TBX1, Official Symbol TBX1provided by HGNC Official Full Name T-box transcription factor 1provided by HGNC Primary source HGNC:HGNC:11592 See related Ensembl:ENSG00000184058 MIM:602054; AllianceGenome:HGNC:11592 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 DGS; TGA; VCF; CAFS; CTHM; DGCR; DORV; VCFS; TBX1C; CATCH22 Summary This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 1.4), prostate (RPKM 1.1) and 13 other tissues See more Orthologs mouse all
TBX10, Official Symbol TBX10provided by HGNC Official Full Name T-box transcription factor 10provided by HGNC Primary source HGNC:HGNC:11593 See related Ensembl:ENSG00000167800 MIM:604648; AllianceGenome:HGNC:11593 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 TBX7; TBX13 Summary This gene encodes a member of the T-box family of transcription factors. These transcription factors share a DNA-binding domain called the T-box, and play a role in several developmental processes including early embryonic cell fate and organogenesis. The encoded protein is a member of the T-box 1 subfamily. Mutations in this gene are thought to be a cause of isolated cleft lip with or without cleft palate. [provided by RefSeq, Nov 2010] Expression Biased expression in colon (RPKM 3.2), small intestine (RPKM 3.1) and 1 other tissue See more Orthologs mouse all
TBX15, Official Symbol TBX15provided by HGNC Official Full Name T-box transcription factor 15provided by HGNC Primary source HGNC:HGNC:11594 See related Ensembl:ENSG00000092607 MIM:604127; AllianceGenome:HGNC:11594 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 TBX14 Summary This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009] Expression Biased expression in fat (RPKM 11.5), liver (RPKM 10.7) and 4 other tissues See more Orthologs mouse all
TBX18, Official Symbol TBX18provided by HGNC Official Full Name T-box transcription factor 18provided by HGNC Primary source HGNC:HGNC:11595 See related Ensembl:ENSG00000112837 MIM:604613; AllianceGenome:HGNC:11595 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 PUJO; CAKUT2 Summary This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012] Expression Broad expression in fat (RPKM 1.9), skin (RPKM 1.3) and 17 other tissues See more Orthologs mouse all
TBX18-AS1, Official Symbol TBX18-AS1provided by HGNC Official Full Name TBX18 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:52256 See related Ensembl:ENSG00000228290 AllianceGenome:HGNC:52256 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 10.3) See more
TBX19, Official Symbol TBX19provided by HGNC Official Full Name T-box transcription factor 19provided by HGNC Primary source HGNC:HGNC:11596 See related Ensembl:ENSG00000143178 MIM:604614; AllianceGenome:HGNC:11596 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 TPIT; TBS19; dJ747L4.1 Summary This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 1.9), spleen (RPKM 1.2) and 24 other tissues See more Orthologs mouse all
TBX2, Official Symbol TBX2provided by HGNC Official Full Name T-box transcription factor 2provided by HGNC Primary source HGNC:HGNC:11597 See related Ensembl:ENSG00000121068 MIM:600747; AllianceGenome:HGNC:11597 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 VETD Summary This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in lung (RPKM 27.4), placenta (RPKM 24.9) and 18 other tissues See more Orthologs mouse all
TBX2-AS1, Official Symbol TBX2-AS1provided by HGNC Official Full Name TBX2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:50355 See related Ensembl:ENSG00000267280 AllianceGenome:HGNC:50355 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 fat (RPKM 4.2), lung (RPKM 3.3) and 17 other tissues See more
TBX20, Official Symbol TBX20provided by HGNC Official Full Name T-box transcription factor 20provided by HGNC Primary source HGNC:HGNC:11598 See related Ensembl:ENSG00000164532 MIM:606061; AllianceGenome:HGNC:11598 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 ASD4 Summary This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] Expression Biased expression in heart (RPKM 10.2), adrenal (RPKM 2.5) and 3 other tissues See more Orthologs mouse all
TBX21, Official Symbol TBX21provided by HGNC Official Full Name T-box transcription factor 21provided by HGNC Primary source HGNC:HGNC:11599 See related Ensembl:ENSG00000073861 MIM:604895; AllianceGenome:HGNC:11599 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 TBET; IMD88; T-PET; T-bet; TBLYM Summary This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human ortholog of mouse Tbx21/Tbet gene. Studies in mouse show that Tbx21 protein is a Th1 cell-specific transcription factor that controls the expression of the hallmark Th1 cytokine, interferon-gamma (IFNG). Expression of the human ortholog also correlates with IFNG expression in Th1 and natural killer cells, suggesting a role for this gene in initiating Th1 lineage development from naive Th precursor cells. [provided by RefSeq, Jul 2008] Expression Biased expression in spleen (RPKM 4.5), bone marrow (RPKM 4.1) and 12 other tissues See more Orthologs mouse all
TBX22, Official Symbol TBX22provided by HGNC Official Full Name T-box transcription factor 22provided by HGNC Primary source HGNC:HGNC:11600 See related Ensembl:ENSG00000122145 MIM:300307; AllianceGenome:HGNC:11600 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 CPX; CLPA; TBXX; ABERS; dJ795G23.1 Summary This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 6.4) See more Orthologs mouse all
TBX3, Official Symbol TBX3provided by HGNC Official Full Name T-box transcription factor 3provided by HGNC Primary source HGNC:HGNC:11602 See related Ensembl:ENSG00000135111 MIM:601621; AllianceGenome:HGNC:11602 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 UMS; XHL; TBX3-ISO Summary This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008] Expression Biased expression in adrenal (RPKM 89.8), prostate (RPKM 51.1) and 11 other tissues See more Orthologs mouse all
TBX4, Official Symbol TBX4provided by HGNC Official Full Name T-box transcription factor 4provided by HGNC Primary source HGNC:HGNC:11603 See related Ensembl:ENSG00000121075 MIM:601719; AllianceGenome:HGNC:11603 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 SPS; ICPPS; PAPPAS Summary This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq, Jul 2008] Expression Biased expression in lung (RPKM 16.7), placenta (RPKM 12.0) and 2 other tissues See more Orthologs mouse all
TBX5, Official Symbol TBX5provided by HGNC Official Full Name T-box transcription factor 5provided by HGNC Primary source HGNC:HGNC:11604 See related Ensembl:ENSG00000089225 MIM:601620; AllianceGenome:HGNC:11604 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 HOS Summary This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in heart (RPKM 12.5), placenta (RPKM 8.8) and 6 other tissues See more Orthologs mouse all
TBX5-AS1, Official Symbol TBX5-AS1provided by HGNC Official Full Name TBX5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:27402 See related Ensembl:ENSG00000255399 AllianceGenome:HGNC:27402 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 Biased expression in placenta (RPKM 8.9), lung (RPKM 6.6) and 5 other tissues See more
TBX6, Official Symbol TBX6provided by HGNC Official Full Name T-box transcription factor 6provided by HGNC Primary source HGNC:HGNC:11605 See related Ensembl:ENSG00000149922 MIM:602427; AllianceGenome:HGNC:11605 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 SCDO5 Summary This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008] Expression Ubiquitous expression in stomach (RPKM 1.7), urinary bladder (RPKM 1.0) and 23 other tissues See more Orthologs mouse all
TBXA2R, Official Symbol TBXA2Rprovided by HGNC Official Full Name thromboxane A2 receptorprovided by HGNC Primary source HGNC:HGNC:11608 See related Ensembl:ENSG00000006638 MIM:188070; AllianceGenome:HGNC:11608 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 TXA2-R; BDPLT13 Summary This gene encodes a member of the G protein-coupled receptor family. The protein interacts with thromboxane A2 to induce platelet aggregation and regulate hemostasis. A mutation in this gene results in a bleeding disorder. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] Expression Broad expression in fat (RPKM 1.2), spleen (RPKM 1.2) and 20 other tissues See more Orthologs mouse all
TBXAS1, Official Symbol TBXAS1provided by HGNC Official Full Name thromboxane A synthase 1provided by HGNC Primary source HGNC:HGNC:11609 See related Ensembl:ENSG00000059377 MIM:274180; AllianceGenome:HGNC:11609 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 TS; TXS; CYP5; THAS; TXAS; CYP5A1; GHOSAL; BDPLT14 Summary This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] Expression Broad expression in spleen (RPKM 5.9), appendix (RPKM 4.4) and 23 other tissues See more Orthologs mouse all
TBXT, Official Symbol TBXTprovided by HGNC Official Full Name T-box transcription factor Tprovided by HGNC Primary source HGNC:HGNC:11515 See related Ensembl:ENSG00000164458 MIM:601397; AllianceGenome:HGNC:11515 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 T; TFT; SAVA Summary The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells. Variation in this gene was associated with susceptibility to neural tube defects and chordoma. A mutation in this gene was found in a family with sacral agenesis with vertebral anomalies. [provided by RefSeq, Sep 2018] Expression Low expression observed in reference dataset See more Orthologs all
TC2N, Official Symbol TC2Nprovided by HGNC Official Full Name tandem C2 domains, nuclearprovided by HGNC Primary source HGNC:HGNC:19859 See related Ensembl:ENSG00000165929 MIM:619305; AllianceGenome:HGNC:19859 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 C2CD1; TAC2N; Tac2-N; MTAC2D1; C14orf47 Summary Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in gall bladder (RPKM 19.6), stomach (RPKM 15.2) and 24 other tissues See more Orthologs mouse all
TCAF1, Official Symbol TCAF1provided by HGNC Official Full Name TRPM8 channel associated factor 1provided by HGNC Primary source HGNC:HGNC:22201 See related Ensembl:ENSG00000198420 MIM:616251; AllianceGenome:HGNC:22201 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 GATD9A; FAM115A Summary Enables transmembrane transporter binding activity. Involved in negative regulation of cell migration; positive regulation of anion channel activity; and positive regulation of protein targeting to membrane. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 36.2), brain (RPKM 25.4) and 24 other tissues See more Orthologs mouse all
TCAF1P1, Official Symbol TCAF1P1provided by HGNC Official Full Name TRPM8 channel associated factor 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:33604 See related Ensembl:ENSG00000223459 AllianceGenome:HGNC:33604 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 FAM115B
TCAF2, Official Symbol TCAF2provided by HGNC Official Full Name TRPM8 channel associated factor 2provided by HGNC Primary source HGNC:HGNC:26878 See related Ensembl:ENSG00000170379 MIM:616252; AllianceGenome:HGNC:26878 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 GATD9; GATD9B; FAM115C; FAM139A Summary Enables transmembrane transporter binding activity. Involved in negative regulation of anion channel activity; positive regulation of cell migration; and positive regulation of protein targeting to membrane. Located in cell junction and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Annotation category: suggests misassembly Expression Ubiquitous expression in esophagus (RPKM 2.3), placenta (RPKM 2.1) and 25 other tissues See more Orthologs mouse all
TCAF2C, Official Symbol TCAF2Cprovided by HGNC Official Full Name TRPM8 channel associated factor 2Cprovided by HGNC Primary source HGNC:HGNC:53641 See related AllianceGenome:HGNC:53641 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable transmembrane transporter binding activity. Predicted to be involved in negative regulation of anion channel activity and positive regulation of protein targeting to membrane. Located in cell junction and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
TCAIM, Official Symbol TCAIMprovided by HGNC Official Full Name T cell activation inhibitor, mitochondrialprovided by HGNC Primary source HGNC:HGNC:25241 See related Ensembl:ENSG00000179152 AllianceGenome:HGNC:25241 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 TOAG1; TOAG-1; C3orf23 Summary Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 7.5), liver (RPKM 6.6) and 25 other tissues See more Orthologs mouse all