psui3905/ncbi_genes_summary huggingface dataset:
TCP1, Official Symbol TCP1provided by HGNC Official Full Name t-complex 1provided by HGNC Primary source HGNC:HGNC:11655 See related Ensembl:ENSG00000120438 MIM:186980; AllianceGenome:HGNC:11655 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 CCT1; CCTa; D6S230E; CCT-alpha; TCP-1-alpha Summary The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. In addition, three pseudogenes that appear to be derived from this gene have been found. [provided by RefSeq, Jun 2010] Expression Ubiquitous expression in testis (RPKM 91.3), brain (RPKM 50.5) and 25 other tissues See more Orthologs mouse all
TCP10L, Official Symbol TCP10Lprovided by HGNC Official Full Name t-complex 10 likeprovided by HGNC Primary source HGNC:HGNC:11657 See related Ensembl:ENSG00000242220 MIM:608365; AllianceGenome:HGNC:11657 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 PRED77; C21orf77; TCP10A-1; TCP10A-2; LINC00846 Summary Enables several functions, including identical protein binding activity; protein self-association; and transcription corepressor activity. Involved in negative regulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 24.4) See more Orthologs all
TCP10L3, Official Symbol TCP10L3provided by HGNC Official Full Name t-complex 10 like 3 (pseudogene)provided by HGNC Primary source HGNC:HGNC:11656 See related Ensembl:ENSG00000290751 MIM:187020; AllianceGenome:HGNC:11656 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCP10; TCP10A Annotation information Annotation category: suggests misassembly Expression Restricted expression toward testis (RPKM 4.5) See more Orthologs all
TCP11, Official Symbol TCP11provided by HGNC Official Full Name t-complex 11provided by HGNC Primary source HGNC:HGNC:11658 See related Ensembl:ENSG00000124678 MIM:186982; AllianceGenome:HGNC:11658 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 FPPR; D6S230E Summary Predicted to be involved in several processes, including protein kinase A signaling; regulation of cAMP-mediated signaling; and regulation of sperm capacitation. Located in acrosomal vesicle and sperm flagellum. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 154.9) See more Orthologs mouse all
TCP11L1, Official Symbol TCP11L1provided by HGNC Official Full Name t-complex 11 like 1provided by HGNC Primary source HGNC:HGNC:25655 See related Ensembl:ENSG00000176148 AllianceGenome:HGNC:25655 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 dJ85M6.3 Summary Predicted to be involved in signal transduction. Located in microtubule. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 7.3), small intestine (RPKM 3.3) and 25 other tissues See more Orthologs mouse all
TCP11L2, Official Symbol TCP11L2provided by HGNC Official Full Name t-complex 11 like 2provided by HGNC Primary source HGNC:HGNC:28627 See related Ensembl:ENSG00000166046 MIM:619889; AllianceGenome:HGNC:28627 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 signal transduction. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 5.7), lung (RPKM 5.0) and 25 other tissues See more Orthologs mouse all
TCP11X1, Official Symbol TCP11X1provided by HGNC Official Full Name t-complex 11 family, X-linked 1provided by HGNC Primary source HGNC:HGNC:48369 See related Ensembl:ENSG00000268235 AllianceGenome:HGNC:48369 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 protein kinase A signaling and regulation of sperm capacitation. Predicted to be active in acrosomal vesicle and sperm flagellum. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 1.5), lung (RPKM 0.3) and 2 other tissues See more Orthologs all
TCP11X2, Official Symbol TCP11X2provided by HGNC Official Full Name t-complex 11 family, X-linked 2provided by HGNC Primary source HGNC:HGNC:48335 See related Ensembl:ENSG00000215029 AllianceGenome:HGNC:48335 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 protein kinase A signaling and regulation of sperm capacitation. Predicted to be active in acrosomal vesicle and sperm flagellum. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 1.7), lung (RPKM 0.3) and 2 other tissues See more Orthologs all
TCP11X3P, Official Symbol TCP11X3Pprovided by HGNC Official Full Name t-complex 11 family, X-linked 3, pseudogeneprovided by HGNC Primary source HGNC:HGNC:48370 See related Ensembl:ENSG00000251525 AllianceGenome:HGNC:48370 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TCP1P1, Official Symbol TCP1P1provided by HGNC Official Full Name t-complex 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:11659 See related AllianceGenome:HGNC:11659 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 TCP1L1; CCT1-3P
TCP1P3, Official Symbol TCP1P3provided by HGNC Official Full Name t-complex 1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:21630 See related Ensembl:ENSG00000256849 AllianceGenome:HGNC:21630 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 TCP1L3; CCT1-1P
TCTA, Official Symbol TCTAprovided by HGNC Official Full Name T cell leukemia translocation alteredprovided by HGNC Primary source HGNC:HGNC:11692 See related Ensembl:ENSG00000145022 MIM:600690; AllianceGenome:HGNC:11692 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 negative regulation of osteoclast differentiation and osteoclast fusion. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 27.1), kidney (RPKM 21.0) and 25 other tissues See more Orthologs mouse all
TCTE1, Official Symbol TCTE1provided by HGNC Official Full Name t-complex-associated-testis-expressed 1provided by HGNC Primary source HGNC:HGNC:11693 See related Ensembl:ENSG00000146221 MIM:186975; AllianceGenome:HGNC:11693 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 DRC5; D6S46; FAP155 Summary Predicted to be involved in flagellated sperm motility. Predicted to be located in sperm flagellum. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 12.5) See more Orthologs mouse all
TCTN1, Official Symbol TCTN1provided by HGNC Official Full Name tectonic family member 1provided by HGNC Primary source HGNC:HGNC:26113 See related Ensembl:ENSG00000204852 MIM:609863; AllianceGenome:HGNC:26113 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 TECT1; JBTS13 Summary This gene encodes a member of a family of secreted and transmembrane proteins. The orthologous gene in mouse functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. This protein is a component of the tectonic-like complex, which forms a barrier between the ciliary axoneme and the basal body. A mutation in this gene was found in a family with Joubert syndrome-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Expression Broad expression in testis (RPKM 9.1), thyroid (RPKM 8.9) and 25 other tissues See more Orthologs mouse all
TCTN2, Official Symbol TCTN2provided by HGNC Official Full Name tectonic family member 2provided by HGNC Primary source HGNC:HGNC:25774 See related Ensembl:ENSG00000168778 MIM:613846; AllianceGenome:HGNC:25774 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 MKS8; TECT2; JBTS24; C12orf38 Summary This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Expression Broad expression in testis (RPKM 7.3), thyroid (RPKM 7.3) and 25 other tissues See more Orthologs mouse all
TCTN3, Official Symbol TCTN3provided by HGNC Official Full Name tectonic family member 3provided by HGNC Primary source HGNC:HGNC:24519 See related Ensembl:ENSG00000119977 MIM:613847; AllianceGenome:HGNC:24519 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 OFD4; TECT3; JBTS18; C10orf61 Summary This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012] Expression Ubiquitous expression in thyroid (RPKM 49.4), ovary (RPKM 15.6) and 25 other tissues See more Orthologs mouse all
TDG, Official Symbol TDGprovided by HGNC Official Full Name thymine DNA glycosylaseprovided by HGNC Primary source HGNC:HGNC:11700 See related Ensembl:ENSG00000139372 MIM:601423; AllianceGenome:HGNC:11700 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 hTDG Summary The protein encoded by this gene belongs to the TDG/mug DNA glycosylase family. Thymine-DNA glycosylase (TDG) removes thymine moieties from G/T mismatches by hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of DNA and the mispaired thymine. With lower activity, this enzyme also removes thymine from C/T and T/T mispairings. TDG can also remove uracil and 5-bromouracil from mispairings with guanine. This enzyme plays a central role in cellular defense against genetic mutation caused by the spontaneous deamination of 5-methylcytosine and cytosine. This gene may have a pseudogene in the p arm of chromosome 12. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 10.7), appendix (RPKM 8.9) and 25 other tissues See more Orthologs mouse all
TDGP1, Official Symbol TDGP1provided by HGNC Official Full Name thymine-DNA glycosylase pseudogene 1provided by HGNC Primary source HGNC:HGNC:49891 See related AllianceGenome:HGNC:49891 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TDH, Official Symbol TDHprovided by HGNC Official Full Name L-threonine dehydrogenase (pseudogene)provided by HGNC Primary source HGNC:HGNC:15547 See related Ensembl:ENSG00000154316 MIM:615174; AllianceGenome:HGNC:15547 Gene type pseudo RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SDR14E1P Summary This gene appears to be an evolving pseudogene of L-threonine 3-dehydrogenase (TDH). In both prokaryotes and eukaryotes, TDH catalyzes the first of two steps in one of two L-threonine degradation pathways. However, in human, the single gene with sequence similarity to TDH is not capable of encoding a functional TDH protein; the predicted protein lacks most of the C-terminus and parts of the NAD+ binding motif when compared to other species' TDH proteins. This suggests that the human gene is therefore a pseudogene. Transcripts of this gene are found in all tissues and alternatively spliced transcripts have been described. It is not known if these transcripts are translated, or if the possible protein product provides any functional role. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more
TDO2, Official Symbol TDO2provided by HGNC Official Full Name tryptophan 2,3-dioxygenaseprovided by HGNC Primary source HGNC:HGNC:11708 See related Ensembl:ENSG00000151790 MIM:191070; AllianceGenome:HGNC:11708 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 TO; TDO; TPH2; TRPO; HYPTRP Summary This gene encodes a heme enzyme that plays a critical role in tryptophan metabolism by catalyzing the first and rate-limiting step of the kynurenine pathway. Increased activity of the encoded protein and subsequent kynurenine production may also play a role in cancer through the suppression of antitumor immune responses, and single nucleotide polymorphisms in this gene may be associated with autism. [provided by RefSeq, Feb 2012] Expression Biased expression in liver (RPKM 202.8) and appendix (RPKM 14.2) See more Orthologs mouse all
TDP1, Official Symbol TDP1provided by HGNC Official Full Name tyrosyl-DNA phosphodiesterase 1provided by HGNC Primary source HGNC:HGNC:18884 See related Ensembl:ENSG00000042088 MIM:607198; AllianceGenome:HGNC:18884 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 involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). [provided by RefSeq, Aug 2016] Expression Broad expression in testis (RPKM 7.3), lymph node (RPKM 4.5) and 24 other tissues See more Orthologs mouse all
TDP2, Official Symbol TDP2provided by HGNC Official Full Name tyrosyl-DNA phosphodiesterase 2provided by HGNC Primary source HGNC:HGNC:17768 See related Ensembl:ENSG00000111802 MIM:605764; AllianceGenome:HGNC:17768 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 EAP2; AD022; EAPII; TTRAP; hTDP2; dJ30M3.3 Summary This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor associated factors (TRAFs), and inhibits nuclear factor-kappa-B activation. This protein has sequence and structural similarities with APE1 endonuclease, which is involved in both DNA repair and the activation of transcription factors. [provided by RefSeq, Jul 2008] Expression Broad expression in small intestine (RPKM 97.5), colon (RPKM 87.6) and 24 other tissues See more Orthologs mouse all
TDRD1, Official Symbol TDRD1provided by HGNC Official Full Name tudor domain containing 1provided by HGNC Primary source HGNC:HGNC:11712 See related Ensembl:ENSG00000095627 MIM:605796; AllianceGenome:HGNC:11712 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 CT41.1 Summary This gene encodes a protein containing a tudor domain that is thought to function in the suppression of transposable elements during spermatogenesis. The related protein in mouse forms a complex with piRNAs and Piwi proteins to promote methylation and silencing of target sequences. This gene was observed to be upregulated by ETS transcription factor ERG in prostate tumors. [provided by RefSeq, Sep 2018] Expression Biased expression in testis (RPKM 8.5) and prostate (RPKM 0.6) See more Orthologs mouse all
TDRD10, Official Symbol TDRD10provided by HGNC Official Full Name tudor domain containing 10provided by HGNC Primary source HGNC:HGNC:25316 See related Ensembl:ENSG00000163239 AllianceGenome:HGNC:25316 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable RNA binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 14.5), lung (RPKM 1.6) and 2 other tissues See more Orthologs all
TDRD12, Official Symbol TDRD12provided by HGNC Official Full Name tudor domain containing 12provided by HGNC Primary source HGNC:HGNC:25044 See related Ensembl:ENSG00000173809 AllianceGenome:HGNC:25044 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 ECAT8 Summary Predicted to enable ATP binding activity; RNA helicase activity; and nucleic acid binding activity. Predicted to be involved in several processes, including gamete generation; gene silencing by RNA; and piRNA metabolic process. Predicted to be part of PET complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 4.5), ovary (RPKM 0.8) and 3 other tissues See more Orthologs mouse all
TDRD15, Official Symbol TDRD15provided by HGNC Official Full Name tudor domain containing 15provided by HGNC Primary source HGNC:HGNC:45037 See related Ensembl:ENSG00000218819 AllianceGenome:HGNC:45037 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 Expression Restricted expression toward testis (RPKM 3.5) See more Orthologs all
TDRD3, Official Symbol TDRD3provided by HGNC Official Full Name tudor domain containing 3provided by HGNC Primary source HGNC:HGNC:20612 See related Ensembl:ENSG00000083544 MIM:614392; AllianceGenome:HGNC:20612 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables chromatin binding activity; methylated histone binding activity; and transcription coactivator activity. Predicted to be involved in chromatin organization and positive regulation of transcription, DNA-templated. Located in Golgi apparatus; cytosol; and nucleoplasm. Colocalizes with exon-exon junction complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 6.2), thyroid (RPKM 5.5) and 25 other tissues See more Orthologs mouse all
TDRD5, Official Symbol TDRD5provided by HGNC Official Full Name tudor domain containing 5provided by HGNC Primary source HGNC:HGNC:20614 See related Ensembl:ENSG00000162782 MIM:617748; AllianceGenome:HGNC:20614 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 TUDOR3 Summary Predicted to be involved in DNA methylation involved in gamete generation; P granule organization; and spermatid development. Predicted to be located in chromatoid body and pi-body. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 11.6) See more Orthologs mouse all
TDRD6, Official Symbol TDRD6provided by HGNC Official Full Name tudor domain containing 6provided by HGNC Primary source HGNC:HGNC:21339 See related Ensembl:ENSG00000180113 MIM:611200; AllianceGenome:HGNC:21339 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 TDR2; CT41.2; SPATA36; NY-CO-45; bA446F17.4 Summary This gene encodes a tudor domain-containing protein and component of the chromatoid body, a type of ribonucleoprotein granule present in male germ cells. Studies in rodents have demonstrated a role for the encoded protein in spermiogenesis and the nonsense mediated decay (NMD) pathway. This protein is a major autoantigen in human patients with autoimmune polyendocrine syndrome type 1 (APS1). [provided by RefSeq, Oct 2016] Expression Biased expression in testis (RPKM 11.7), thyroid (RPKM 1.3) and 5 other tissues See more Orthologs mouse all
TDRD7, Official Symbol TDRD7provided by HGNC Official Full Name tudor domain containing 7provided by HGNC Primary source HGNC:HGNC:30831 See related Ensembl:ENSG00000196116 MIM:611258; AllianceGenome:HGNC:30831 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 TRAP; CATC4; PCTAIRE2BP Summary The protein encoded by this gene belongs to the Tudor family of proteins. This protein contains conserved Tudor domains and LOTUS domains. It is a component of RNA granules, which function in RNA processing. Mutations in this gene have been associated with cataract formation in mouse and human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Expression Broad expression in testis (RPKM 24.1), duodenum (RPKM 7.8) and 24 other tissues See more Orthologs mouse all
TDRD9, Official Symbol TDRD9provided by HGNC Official Full Name tudor domain containing 9provided by HGNC Primary source HGNC:HGNC:20122 See related Ensembl:ENSG00000156414 MIM:617963; AllianceGenome:HGNC:20122 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 HLS; SPNE; HIG-1; NET54; SPGF30; C14orf75 Summary Predicted to enable RNA binding activity. Involved in spermatogenesis. Located in cytoplasm and nucleus. Implicated in spermatogenic failure 30. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 26.4) and thyroid (RPKM 5.7) See more Orthologs mouse all
TDRG1, Official Symbol TDRG1provided by HGNC Official Full Name testis development related 1provided by HGNC Primary source HGNC:HGNC:43642 See related Ensembl:ENSG00000204091 MIM:615676; AllianceGenome:HGNC:43642 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 LINC00532; lincRNA-NR_024015 Summary Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 38.5) See more Orthologs all
TDRKH, Official Symbol TDRKHprovided by HGNC Official Full Name tudor and KH domain containingprovided by HGNC Primary source HGNC:HGNC:11713 See related Ensembl:ENSG00000182134 MIM:609501; AllianceGenome:HGNC:11713 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 TDRD2 Summary Predicted to enable RNA binding activity. Predicted to be involved in fertilization; gamete generation; and piRNA metabolic process. Predicted to be located in mitochondrion; pi-body; and piP-body. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 11.8), brain (RPKM 4.0) and 21 other tissues See more Orthologs mouse all
TDRKH-AS1, Official Symbol TDRKH-AS1provided by HGNC Official Full Name TDRKH antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40578 See related Ensembl:ENSG00000203288 AllianceGenome:HGNC:40578 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TDRP, Official Symbol TDRPprovided by HGNC Official Full Name testis development related proteinprovided by HGNC Primary source HGNC:HGNC:26951 See related Ensembl:ENSG00000180190 MIM:619049; AllianceGenome:HGNC:26951 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 Inm01; TDRP1; TDRP2; C8orf42 Summary Acts upstream of or within spermatogenesis. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in placenta (RPKM 17.5), thyroid (RPKM 13.8) and 22 other tissues See more Orthologs mouse all
TEAD1, Official Symbol TEAD1provided by HGNC Official Full Name TEA domain transcription factor 1provided by HGNC Primary source HGNC:HGNC:11714 See related Ensembl:ENSG00000187079 MIM:189967; AllianceGenome:HGNC:11714 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 AA; REF1; TCF13; TEF-1; NTEF-1; TCF-13; TEAD-1 Summary This gene encodes a ubiquitous transcriptional enhancer factor that is a member of the TEA/ATTS domain family. This protein directs the transactivation of a wide variety of genes and, in placental cells, also acts as a transcriptional repressor. Mutations in this gene cause Sveinsson's chorioretinal atrophy. Additional transcript variants have been described but their full-length natures have not been experimentally verified. [provided by RefSeq, May 2010] Expression Ubiquitous expression in fat (RPKM 17.6), esophagus (RPKM 16.7) and 24 other tissues See more Orthologs mouse all
TEAD2, Official Symbol TEAD2provided by HGNC Official Full Name TEA domain transcription factor 2provided by HGNC Primary source HGNC:HGNC:11715 See related Ensembl:ENSG00000074219 MIM:601729; AllianceGenome:HGNC:11715 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 ETF; TEF4; TEF-4; TEAD-2 Summary Enables several functions, including DNA-binding transcription factor activity; disordered domain specific binding activity; and transcription coactivator binding activity. Involved in hippo signaling; positive regulation of transcription, DNA-templated; and protein-containing complex assembly. Located in cytosol and nucleoplasm. Part of TEAD-YAP complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in endometrium (RPKM 17.4), ovary (RPKM 10.9) and 24 other tissues See more Orthologs mouse all
TEAD3, Official Symbol TEAD3provided by HGNC Official Full Name TEA domain transcription factor 3provided by HGNC Primary source HGNC:HGNC:11716 See related Ensembl:ENSG00000007866 MIM:603170; AllianceGenome:HGNC:11716 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 TEF5; TEAD5; TEF-5; DTEF-1; ETFR-1; TEAD-3 Summary This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is predominantly expressed in the placenta and is involved in the transactivation of the chorionic somatomammotropin-B gene enhancer. Translation of this protein is initiated at a non-AUG (AUA) start codon. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 22.4), endometrium (RPKM 21.2) and 23 other tissues See more Orthologs mouse all
TEAD4, Official Symbol TEAD4provided by HGNC Official Full Name TEA domain transcription factor 4provided by HGNC Primary source HGNC:HGNC:11717 See related Ensembl:ENSG00000197905 MIM:601714; AllianceGenome:HGNC:11717 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 TEF3; RTEF1; TEF-3; EFTR-2; TEFR-1; TCF13L1; hRTEF-1B Summary This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is preferentially expressed in the skeletal muscle, and binds to the M-CAT regulatory element found in promoters of muscle-specific genes to direct their gene expression. Alternatively spliced transcripts encoding distinct isoforms, some of which are translated through the use of a non-AUG (UUG) initiation codon, have been described for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 4.8), placenta (RPKM 4.3) and 23 other tissues See more Orthologs mouse all
TEC, Official Symbol TECprovided by HGNC Official Full Name tec protein tyrosine kinaseprovided by HGNC Primary source HGNC:HGNC:11719 See related Ensembl:ENSG00000135605 MIM:600583; AllianceGenome:HGNC:11719 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 PSCTK4 Summary The protein encoded by this gene belongs to the Tec family of non-receptor protein-tyrosine kinases containing a pleckstrin homology domain. Tec family kinases are involved in the intracellular signaling mechanisms of cytokine receptors, lymphocyte surface antigens, heterotrimeric G-protein coupled receptors, and integrin molecules. They are also key players in the regulation of the immune functions. Tec kinase is an integral component of T cell signaling and has a distinct role in T cell activation. This gene may be associated with myelodysplastic syndrome. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 2.4), esophagus (RPKM 1.4) and 23 other tissues See more Orthologs mouse all
TECPR1, Official Symbol TECPR1provided by HGNC Official Full Name tectonin beta-propeller repeat containing 1provided by HGNC Primary source HGNC:HGNC:22214 See related Ensembl:ENSG00000205356 MIM:614781; AllianceGenome:HGNC:22214 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012] Expression Ubiquitous expression in spleen (RPKM 7.5), brain (RPKM 6.9) and 25 other tissues See more Orthologs mouse all
TECPR2, Official Symbol TECPR2provided by HGNC Official Full Name tectonin beta-propeller repeat containing 2provided by HGNC Primary source HGNC:HGNC:19957 See related Ensembl:ENSG00000196663 MIM:615000; AllianceGenome:HGNC:19957 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 HSAN9; SPG49; KIAA0329 Summary The protein encoded by this gene is a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in autophagy, as reduced expression levels of this gene have been associated with impaired autophagy. Recessive mutations in this gene have been associated with a hereditary form of spastic paraparesis (HSP). HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence linking mutations in this gene with birdshot chorioretinopathy (BSCR), which results in inflammation of the choroid and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] Expression Ubiquitous expression in brain (RPKM 5.6), testis (RPKM 5.5) and 25 other tissues See more Orthologs mouse all
TECR, Official Symbol TECRprovided by HGNC Official Full Name trans-2,3-enoyl-CoA reductaseprovided by HGNC Primary source HGNC:HGNC:4551 See related Ensembl:ENSG00000099797 MIM:610057; AllianceGenome:HGNC:4551 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 SC2; TER; GPSN2; MRT14 Summary This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2011] Expression Ubiquitous expression in esophagus (RPKM 95.3), skin (RPKM 93.5) and 25 other tissues See more Orthologs mouse all
TECRL, Official Symbol TECRLprovided by HGNC Official Full Name trans-2,3-enoyl-CoA reductase likeprovided by HGNC Primary source HGNC:HGNC:27365 See related Ensembl:ENSG00000205678 MIM:617242; AllianceGenome:HGNC:27365 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 TERL; CPVT3; GPSN2L; SRD5A2L2 Summary The protein encoded by this gene contains a ubiquitin-like domain in the N-terminal region, three transmembrane segments and a C-terminal 3-oxo-5-alpha steroid 4-dehydrogenase domain. The protein belongs to the steroid 5-alpha reductase family. Mutations in this gene result in ventricular tachycardia, catecholaminergic polymorphic, 3. [provided by RefSeq, Apr 2017] Expression Restricted expression toward heart (RPKM 117.5) See more Orthologs mouse all
TECRP2, Official Symbol TECRP2provided by HGNC Official Full Name trans-2,3-enoyl-CoA reductase pseudogene 2provided by HGNC Primary source HGNC:HGNC:44051 See related Ensembl:ENSG00000248565 AllianceGenome:HGNC:44051 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TECTA, Official Symbol TECTAprovided by HGNC Official Full Name tectorin alphaprovided by HGNC Primary source HGNC:HGNC:11720 See related Ensembl:ENSG00000109927 MIM:602574; AllianceGenome:HGNC:11720 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 DFNA8; DFNA12; DFNB21 Summary The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 1.1), testis (RPKM 0.6) and 24 other tissues See more Orthologs mouse all
TECTB, Official Symbol TECTBprovided by HGNC Official Full Name tectorin betaprovided by HGNC Primary source HGNC:HGNC:11721 See related Ensembl:ENSG00000119913 MIM:602653; AllianceGenome:HGNC:11721 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a non-collagenous glycoprotein component of the tectorial membrane, which covers the auditory hair cells in the cochlea of the inner ear. A similar protein in mouse functions in low-frequency hearing. [provided by RefSeq, Jul 2013] Expression Low expression observed in reference dataset See more Orthologs mouse all
TEDC1, Official Symbol TEDC1provided by HGNC Official Full Name tubulin epsilon and delta complex 1provided by HGNC Primary source HGNC:HGNC:20127 See related Ensembl:ENSG00000185347 AllianceGenome:HGNC:20127 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 C14orf80 Summary Predicted to be involved in positive regulation of smoothened signaling pathway. Predicted to be located in centriole and cilium. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in stomach (RPKM 2.5), colon (RPKM 2.2) and 25 other tissues See more Orthologs mouse all
TEDC2, Official Symbol TEDC2provided by HGNC Official Full Name tubulin epsilon and delta complex 2provided by HGNC Primary source HGNC:HGNC:25849 See related Ensembl:ENSG00000162062 AllianceGenome:HGNC:25849 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 C16orf59 Summary Predicted to be involved in positive regulation of smoothened signaling pathway. Predicted to be located in centriole and cilium. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 2.6), bone marrow (RPKM 1.5) and 19 other tissues See more Orthologs mouse all
TEDDM1, Official Symbol TEDDM1provided by HGNC Official Full Name transmembrane epididymal protein 1provided by HGNC Primary source HGNC:HGNC:30233 See related Ensembl:ENSG00000203730 MIM:620288; AllianceGenome:HGNC:30233 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 HE9; EDDM9; Epdd1; TMEM45C; HEL-S-45e Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
TEF, Official Symbol TEFprovided by HGNC Official Full Name TEF transcription factor, PAR bZIP family memberprovided by HGNC Primary source HGNC:HGNC:11722 See related Ensembl:ENSG00000167074 MIM:188595; AllianceGenome:HGNC:11722 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the PAR (proline and acidic amino acid-rich) subfamily of basic region/leucine zipper (bZIP) transcription factors. It is expressed in a broad range of cells and tissues in adult animals, however, during embryonic development, TEF expression appears to be restricted to the developing anterior pituitary gland, coincident with the appearance of thyroid-stimulating hormone, beta (TSHB). Indeed, TEF can bind to, and transactivate the TSHB promoter. It shows homology (in the functional domains) with other members of the PAR-bZIP subfamily of transcription factors, which include albumin D box-binding protein (DBP), human hepatic leukemia factor (HLF) and chicken vitellogenin gene-binding protein (VBP); VBP is considered the chicken homologue of TEF. Different members of the subfamily can readily form heterodimers, and share DNA-binding, and transcriptional regulatory properties. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] Expression Ubiquitous expression in brain (RPKM 21.5), ovary (RPKM 19.9) and 24 other tissues See more Orthologs mouse all
TEFM, Official Symbol TEFMprovided by HGNC Official Full Name transcription elongation factor, mitochondrialprovided by HGNC Primary source HGNC:HGNC:26223 See related Ensembl:ENSG00000172171 MIM:616422; AllianceGenome:HGNC:26223 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 COXPD58; C17orf42 Summary Enables DNA polymerase processivity factor activity. Involved in mitochondrial transcription and oxidative phosphorylation. Located in mitochondrial nucleoid. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 3.5), placenta (RPKM 3.5) and 25 other tissues See more Orthologs mouse all
TEK, Official Symbol TEKprovided by HGNC Official Full Name TEK receptor tyrosine kinaseprovided by HGNC Primary source HGNC:HGNC:11724 See related Ensembl:ENSG00000120156 MIM:600221; AllianceGenome:HGNC:11724 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 TIE2; VMCM; GLC3E; TIE-2; VMCM1; CD202B Summary This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014] Expression Broad expression in lung (RPKM 19.9), placenta (RPKM 18.9) and 21 other tissues See more Orthologs mouse all
TEKT1, Official Symbol TEKT1provided by HGNC Official Full Name tektin 1provided by HGNC Primary source HGNC:HGNC:15534 See related Ensembl:ENSG00000167858 MIM:609002; AllianceGenome:HGNC:15534 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. This gene is predominantly expressed in the testis and in mouse, tektin 1 mRNA was localized to the spermatocytes and round spermatids in the seminiferous tubules, indicating that it may play a role in spermatogenesis. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 17.1) See more Orthologs mouse all