psui3905/ncbi_genes_summary huggingface dataset:
TRPM7, Official Symbol TRPM7provided by HGNC Official Full Name transient receptor potential cation channel subfamily M member 7provided by HGNC Primary source HGNC:HGNC:17994 See related Ensembl:ENSG00000092439 MIM:605692; AllianceGenome:HGNC:17994 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 CHAK; CHAK1; ALSPDC; LTRPC7; LTrpC-7; TRP-PLIK Summary This gene belongs to the melastatin subfamily of transient receptor potential family of ion channels. The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. The encoded protein is involved in cytoskeletal organization, cell adhesion, cell migration and organogenesis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam. The gene may also be associated with defects of cardiac function. [provided by RefSeq, Aug 2017] Expression Ubiquitous expression in thyroid (RPKM 8.4), kidney (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
TRPM8, Official Symbol TRPM8provided by HGNC Official Full Name transient receptor potential cation channel subfamily M member 8provided by HGNC Primary source HGNC:HGNC:17961 See related Ensembl:ENSG00000144481 MIM:606678; AllianceGenome:HGNC:17961 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 TRPP8; LTRPC6; trp-p8; LTrpC-6 Summary Predicted to enable ligand-gated calcium channel activity. Predicted to be involved in calcium ion transmembrane transport and positive regulation of cold-induced thermogenesis. Predicted to act upstream of or within several processes, including cellular calcium ion homeostasis; response to cold; and thermoception. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward prostate (RPKM 48.0) See more Orthologs mouse all
TRPS1, Official Symbol TRPS1provided by HGNC Official Full Name transcriptional repressor GATA binding 1provided by HGNC Primary source HGNC:HGNC:12340 See related Ensembl:ENSG00000104447 MIM:604386; AllianceGenome:HGNC:12340 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 GC79; LGCR Summary This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in esophagus (RPKM 4.1), gall bladder (RPKM 3.6) and 24 other tissues See more Orthologs mouse all
TRPT1, Official Symbol TRPT1provided by HGNC Official Full Name tRNA phosphotransferase 1provided by HGNC Primary source HGNC:HGNC:20316 See related Ensembl:ENSG00000149743 MIM:610470; AllianceGenome:HGNC:20316 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable tRNA 2'-phosphotransferase activity. Predicted to be involved in tRNA splicing, via endonucleolytic cleavage and ligation. Predicted to act upstream of or within regulation of protein kinase activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 18.8), duodenum (RPKM 15.3) and 25 other tissues See more Orthologs mouse all
TRPV1, Official Symbol TRPV1provided by HGNC Official Full Name transient receptor potential cation channel subfamily V member 1provided by HGNC Primary source HGNC:HGNC:12716 See related Ensembl:ENSG00000196689 MIM:602076; AllianceGenome:HGNC:12716 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 VR1 Summary Capsaicin, the main pungent ingredient in hot chili peppers, elicits a sensation of burning pain by selectively activating sensory neurons that convey information about noxious stimuli to the central nervous system. The protein encoded by this gene is a receptor for capsaicin and is a non-selective cation channel that is structurally related to members of the TRP family of ion channels. This receptor is also activated by increases in temperature in the noxious range, suggesting that it functions as a transducer of painful thermal stimuli in vivo. Four transcript variants encoding the same protein, but with different 5' UTR sequence, have been described for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in duodenum (RPKM 3.6), ovary (RPKM 3.0) and 25 other tissues See more Orthologs mouse all
TRPV2, Official Symbol TRPV2provided by HGNC Official Full Name transient receptor potential cation channel subfamily V member 2provided by HGNC Primary source HGNC:HGNC:18082 See related Ensembl:ENSG00000187688 MIM:606676; AllianceGenome:HGNC:18082 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 VRL; VRL1; VRL-1 Summary This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protein may be involved in transduction of high-temperature heat responses in sensory ganglia. It is thought that in other tissues the channel may be activated by stimuli other than heat. [provided by RefSeq, Jul 2008] Expression Broad expression in lung (RPKM 13.6), spleen (RPKM 9.9) and 23 other tissues See more Orthologs mouse all
TRPV3, Official Symbol TRPV3provided by HGNC Official Full Name transient receptor potential cation channel subfamily V member 3provided by HGNC Primary source HGNC:HGNC:18084 See related Ensembl:ENSG00000167723 MIM:607066; AllianceGenome:HGNC:18084 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 OLMS; VRL3; OLMS1; FNEPPK2 Summary This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Expression Biased expression in skin (RPKM 5.2), small intestine (RPKM 3.6) and 11 other tissues See more Orthologs mouse all
TRPV4, Official Symbol TRPV4provided by HGNC Official Full Name transient receptor potential cation channel subfamily V member 4provided by HGNC Primary source HGNC:HGNC:18083 See related Ensembl:ENSG00000111199 MIM:605427; AllianceGenome:HGNC:18083 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 SMAL; VRL2; BCYM3; CMT2C; SPSMA; TRP12; VROAC; HMSN2C; OTRPC4; SSQTL1 Summary This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010] Expression Broad expression in kidney (RPKM 5.7), salivary gland (RPKM 3.0) and 14 other tissues See more Orthologs mouse all
TRPV5, Official Symbol TRPV5provided by HGNC Official Full Name transient receptor potential cation channel subfamily V member 5provided by HGNC Primary source HGNC:HGNC:3145 See related Ensembl:ENSG00000127412 MIM:606679; AllianceGenome:HGNC:3145 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 CAT2; ECAC1; OTRPC3 Summary This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
TRPV6, Official Symbol TRPV6provided by HGNC Official Full Name transient receptor potential cation channel subfamily V member 6provided by HGNC Primary source HGNC:HGNC:14006 See related Ensembl:ENSG00000165125 MIM:606680; AllianceGenome:HGNC:14006 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 CAT1; CATL; ZFAB; ECAC2; ABP/ZF; HRPTTN; LP6728; HSA277909 Summary This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assembly and regulation. Translation initiation for this protein occurs at a non-AUG start codon that is decoded as methionine. This gene is situated next to a closely related gene for transient receptor potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection in non-African populations, resulting in several non-synonymous codon differences among individuals of different genetic backgrounds. [provided by RefSeq, Feb 2015] Expression Biased expression in prostate (RPKM 26.0), salivary gland (RPKM 21.3) and 9 other tissues See more Orthologs mouse all
TRRAP, Official Symbol TRRAPprovided by HGNC Official Full Name transformation/transcription domain associated proteinprovided by HGNC Primary source HGNC:HGNC:12347 See related Ensembl:ENSG00000196367 MIM:603015; AllianceGenome:HGNC:12347 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 Tra1; TR-AP; DEDDFA; DFNA75; PAF400; STAF40; PAF350/400 Summary This gene encodes a large multidomain protein of the phosphoinositide 3-kinase-related kinases (PIKK) family. The encoded protein is a common component of many histone acetyltransferase (HAT) complexes and plays a role in transcription and DNA repair by recruiting HAT complexes to chromatin. Deregulation of this gene may play a role in several types of cancer including glioblastoma multiforme. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] Expression Ubiquitous expression in testis (RPKM 10.2), ovary (RPKM 8.3) and 25 other tissues See more Orthologs mouse all
TRUB1, Official Symbol TRUB1provided by HGNC Official Full Name TruB pseudouridine synthase family member 1provided by HGNC Primary source HGNC:HGNC:16060 See related Ensembl:ENSG00000165832 MIM:610726; AllianceGenome:HGNC:16060 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 PUS4 Summary Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in adrenal (RPKM 19.3), testis (RPKM 13.5) and 24 other tissues See more Orthologs mouse all
TRUB2, Official Symbol TRUB2provided by HGNC Official Full Name TruB pseudouridine synthase family member 2provided by HGNC Primary source HGNC:HGNC:17170 See related Ensembl:ENSG00000167112 MIM:610727; AllianceGenome:HGNC:17170 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 CLONE24922 Summary Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in kidney (RPKM 17.5), brain (RPKM 14.8) and 25 other tissues See more Orthologs mouse all
TSACC, Official Symbol TSACCprovided by HGNC Official Full Name TSSK6 activating cochaperoneprovided by HGNC Primary source HGNC:HGNC:30636 See related Ensembl:ENSG00000163467 MIM:619679; AllianceGenome:HGNC:30636 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 SIP; SSTK-IP; C1orf182 Summary Enables chaperone binding activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 148.3) See more Orthologs mouse all
TSBP1, Official Symbol TSBP1provided by HGNC Official Full Name testis expressed basic protein 1provided by HGNC Primary source HGNC:HGNC:13922 See related Ensembl:ENSG00000204296 MIM:618151; AllianceGenome:HGNC:13922 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 TSBP; C6orf10 Summary Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 6.6) See more Orthologs mouse all
TSBP1-AS1, Official Symbol TSBP1-AS1provided by HGNC Official Full Name TSBP1 and BTNL2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:39756 See related Ensembl:ENSG00000225914 AllianceGenome:HGNC:39756 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
TSC1, Official Symbol TSC1provided by HGNC Official Full Name TSC complex subunit 1provided by HGNC Primary source HGNC:HGNC:12362 See related Ensembl:ENSG00000165699 MIM:605284; AllianceGenome:HGNC:12362 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 LAM; TSC Summary This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including TSC2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022] Expression Ubiquitous expression in testis (RPKM 9.2), brain (RPKM 8.5) and 25 other tissues See more Orthologs mouse all
TSC2, Official Symbol TSC2provided by HGNC Official Full Name TSC complex subunit 2provided by HGNC Primary source HGNC:HGNC:12363 See related Ensembl:ENSG00000103197 MIM:191092; AllianceGenome:HGNC:12363 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 LAM; TSC4; PPP1R160 Summary This gene is a tumor suppressor gene that encodes the growth inhibitory protein tuberin. Tuberin interacts with hamartin to form the TSC protein complex which functions in the control of cell growth. This TSC protein complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022] Expression Ubiquitous expression in testis (RPKM 18.9), thyroid (RPKM 12.5) and 25 other tissues See more Orthologs mouse all
TSC22D1, Official Symbol TSC22D1provided by HGNC Official Full Name TSC22 domain family member 1provided by HGNC Primary source HGNC:HGNC:16826 See related Ensembl:ENSG00000102804 MIM:607715; AllianceGenome:HGNC:16826 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 Ptg-2; TSC22; TGFB1I4 Summary This gene encodes a member of the TSC22 domain family of leucine zipper transcription factors. The encoded protein is stimulated by transforming growth factor beta, and regulates the transcription of multiple genes including C-type natriuretic peptide. The encoded protein may play a critical role in tumor suppression through the induction of cancer cell apoptosis, and a single nucleotide polymorphism in the promoter of this gene has been associated with diabetic nephropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in prostate (RPKM 33.1), endometrium (RPKM 31.6) and 25 other tissues See more Orthologs mouse all
TSC22D1-AS1, Official Symbol TSC22D1-AS1provided by HGNC Official Full Name TSC22D1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:43684 See related Ensembl:ENSG00000278156 AllianceGenome:HGNC:43684 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in testis (RPKM 5.4), brain (RPKM 3.8) and 24 other tissues See more
TSC22D2, Official Symbol TSC22D2provided by HGNC Official Full Name TSC22 domain family member 2provided by HGNC Primary source HGNC:HGNC:29095 See related Ensembl:ENSG00000196428 MIM:617724; AllianceGenome:HGNC:29095 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 TILZ4a; TILZ4b; TILZ4c Summary Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within response to osmotic stress. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 8.5), gall bladder (RPKM 7.8) and 25 other tissues See more Orthologs mouse all
TSC22D3, Official Symbol TSC22D3provided by HGNC Official Full Name TSC22 domain family member 3provided by HGNC Primary source HGNC:HGNC:3051 See related Ensembl:ENSG00000157514 MIM:300506; AllianceGenome:HGNC:3051 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 DIP; GILZ; DSIPI; TSC-22R Summary This gene encodes the anti-inflammatory protein glucocorticoid (GC)-induced leucine zipper. Expression of this gene stimulated by glucocorticoids and interleukin 10 and it appears to play a key role in the anti-inflammatory and immunosuppressive effects of this steroid. This protein has also been shown to inhibit pro-inflammatory molecules including nuclear factor &#954;B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in fat (RPKM 114.8), appendix (RPKM 102.3) and 25 other tissues See more Orthologs mouse all
TSC22D4, Official Symbol TSC22D4provided by HGNC Official Full Name TSC22 domain family member 4provided by HGNC Primary source HGNC:HGNC:21696 See related Ensembl:ENSG00000166925 MIM:611914; AllianceGenome:HGNC:21696 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 THG1; THG-1; TILZ2; SPACDR Summary TSC22D4 is a member of the TSC22 domain family of leucine zipper transcriptional regulators (see TSC22D3; MIM 300506) (Kester et al., 1999 [PubMed 10488076]; Fiorenza et al., 2001 [PubMed 11707329]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in brain (RPKM 27.0), spleen (RPKM 25.5) and 25 other tissues See more Orthologs mouse all
TSEN15, Official Symbol TSEN15provided by HGNC Official Full Name tRNA splicing endonuclease subunit 15provided by HGNC Primary source HGNC:HGNC:16791 See related Ensembl:ENSG00000198860 MIM:608756; AllianceGenome:HGNC:16791 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 PCH2F; sen15; C1orf19 Summary This gene encodes a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from tRNA precursors. Alternative splicing results in multiple transcript variants. There is a pseudogene of this gene on chromosome 17. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in thyroid (RPKM 5.4), brain (RPKM 4.2) and 25 other tissues See more Orthologs mouse all
TSEN15P3, Official Symbol TSEN15P3provided by HGNC Official Full Name tRNA splicing endonuclease subunit 15 pseudogene 3provided by HGNC Primary source HGNC:HGNC:43964 See related AllianceGenome:HGNC:43964 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TSEN2, Official Symbol TSEN2provided by HGNC Official Full Name tRNA splicing endonuclease subunit 2provided by HGNC Primary source HGNC:HGNC:28422 See related Ensembl:ENSG00000154743 MIM:608753; AllianceGenome:HGNC:28422 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 SEN2; PCH2B; SEN2L Summary This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009] Expression Ubiquitous expression in ovary (RPKM 2.1), thyroid (RPKM 2.1) and 25 other tissues See more Orthologs mouse all
TSEN2P1, Official Symbol TSEN2P1provided by HGNC Official Full Name tRNA splicing endonuclease subunit 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:43965 See related AllianceGenome:HGNC:43965 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TSEN34, Official Symbol TSEN34provided by HGNC Official Full Name tRNA splicing endonuclease subunit 34provided by HGNC Primary source HGNC:HGNC:15506 See related Ensembl:ENSG00000170892 MIM:608754; AllianceGenome:HGNC:15506 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 LENG5; PCH2C; SEN34; SEN34L Summary This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prime end processing factor. A mutation in this gene results in the neurological disorder pontocerebellar hypoplasia type 2. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Oct 2009] Expression Ubiquitous expression in testis (RPKM 9.1), prostate (RPKM 8.4) and 25 other tissues See more Orthologs mouse all
TSEN54, Official Symbol TSEN54provided by HGNC Official Full Name tRNA splicing endonuclease subunit 54provided by HGNC Primary source HGNC:HGNC:27561 See related Ensembl:ENSG00000182173 MIM:608755; AllianceGenome:HGNC:27561 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 PCH4; PCH5; PCH2A; sen54; SEN54L Summary This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.[provided by RefSeq, Oct 2009] Expression Ubiquitous expression in spleen (RPKM 8.3), duodenum (RPKM 7.0) and 25 other tissues See more Orthologs mouse all
TSFM, Official Symbol TSFMprovided by HGNC Official Full Name Ts translation elongation factor, mitochondrialprovided by HGNC Primary source HGNC:HGNC:12367 See related Ensembl:ENSG00000123297 MIM:604723; AllianceGenome:HGNC:12367 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 EFTS; EFTSMT Summary This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010] Expression Ubiquitous expression in adrenal (RPKM 18.8), kidney (RPKM 13.0) and 25 other tissues See more Orthologs mouse all
TSG101, Official Symbol TSG101provided by HGNC Official Full Name tumor susceptibility 101provided by HGNC Primary source HGNC:HGNC:15971 See related Ensembl:ENSG00000074319 MIM:601387; AllianceGenome:HGNC:15971 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 TSG10; VPS23 Summary The protein encoded by this gene belongs to a group of apparently inactive homologs of ubiquitin-conjugating enzymes. The gene product contains a coiled-coil domain that interacts with stathmin, a cytosolic phosphoprotein implicated in tumorigenesis. The protein may play a role in cell growth and differentiation and act as a negative growth regulator. In vitro steady-state expression of this tumor susceptibility gene appears to be important for maintenance of genomic stability and cell cycle regulation. Mutations and alternative splicing in this gene occur in high frequency in breast cancer and suggest that defects occur during breast cancer tumorigenesis and/or progression. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 34.7), adrenal (RPKM 31.6) and 25 other tissues See more Orthologs mouse all
TSGA10, Official Symbol TSGA10provided by HGNC Official Full Name testis specific 10provided by HGNC Primary source HGNC:HGNC:14927 See related Ensembl:ENSG00000135951 MIM:607166; AllianceGenome:HGNC:14927 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 CT79; CEP4L; SPGF26 Summary Predicted to enable structural molecule activity. Predicted to be involved in spermatogenesis. Predicted to act upstream of or within cell projection assembly. Predicted to be located in neuron projection; sperm fibrous sheath; and sperm principal piece. Implicated in spermatogenic failure 26. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 16.6) and thyroid (RPKM 1.5) See more Orthologs mouse all
TSGA10IP, Official Symbol TSGA10IPprovided by HGNC Official Full Name testis specific 10 interacting proteinprovided by HGNC Primary source HGNC:HGNC:26555 See related Ensembl:ENSG00000175513 AllianceGenome:HGNC:26555 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 FAM161C Summary Predicted to be involved in cilium organization. Predicted to be active in photoreceptor connecting cilium. Predicted to colocalize with ciliary basal body. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 2.7) See more Orthologs mouse all
TSGA13, Official Symbol TSGA13provided by HGNC Official Full Name testis specific 13provided by HGNC Primary source HGNC:HGNC:12369 See related Ensembl:ENSG00000213265 AllianceGenome:HGNC:12369 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 Biased expression in testis (RPKM 4.0), ovary (RPKM 0.4) and 4 other tissues See more Orthologs mouse all
TSHB, Official Symbol TSHBprovided by HGNC Official Full Name thyroid stimulating hormone subunit betaprovided by HGNC Primary source HGNC:HGNC:12372 See related Ensembl:ENSG00000134200 MIM:188540; AllianceGenome:HGNC:12372 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 TSH-B; TSH-BETA Summary The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. Thyroid stimulating hormone functions in the control of thyroid structure and metabolism. The protein encoded by this gene is the beta subunit of thyroid stimulating hormone. Mutations in this gene are associated with congenital central and secondary hypothyroidism and Hashimoto's thyroiditis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] Expression Low expression observed in reference dataset See more Orthologs mouse all
TSHR, Official Symbol TSHRprovided by HGNC Official Full Name thyroid stimulating hormone receptorprovided by HGNC Primary source HGNC:HGNC:12373 See related Ensembl:ENSG00000165409 MIM:603372; AllianceGenome:HGNC:12373 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 LGR3; CHNG1; hTSHR-I Summary The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] Expression Restricted expression toward thyroid (RPKM 104.1) See more Orthologs mouse all
TSHZ1, Official Symbol TSHZ1provided by HGNC Official Full Name teashirt zinc finger homeobox 1provided by HGNC Primary source HGNC:HGNC:10669 See related Ensembl:ENSG00000179981 MIM:614427; AllianceGenome:HGNC:10669 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 CAA; TSH1; NY-CO-33; SDCCAG33 Summary This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012] Expression Ubiquitous expression in ovary (RPKM 18.5), placenta (RPKM 15.6) and 24 other tissues See more Orthologs mouse all
TSHZ2, Official Symbol TSHZ2provided by HGNC Official Full Name teashirt zinc finger homeobox 2provided by HGNC Primary source HGNC:HGNC:13010 See related Ensembl:ENSG00000182463 MIM:614118; AllianceGenome:HGNC:13010 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 TSH2; ZABC2; ZNF218; OVC10-2; C20orf17 Summary This gene is a member of the teashirt C2H2-type zinc-finger protein family of transcription factors. This gene encodes a protein with five C2H2-type zinc fingers, a homeobox DNA-binding domain and a coiled-coil domain. This nuclear protein is predicted to act as a transcriptional repressor. This gene is thought to play a role in the development and progression of breast and other types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016] Expression Ubiquitous expression in gall bladder (RPKM 3.9), ovary (RPKM 3.7) and 23 other tissues See more Orthologs mouse all
TSHZ3, Official Symbol TSHZ3provided by HGNC Official Full Name teashirt zinc finger homeobox 3provided by HGNC Primary source HGNC:HGNC:30700 See related Ensembl:ENSG00000121297 MIM:614119; AllianceGenome:HGNC:30700 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 TSH3; ZNF537 Summary This gene encodes a zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inactivated exhibit abnormal gene expression in urinary tract smooth muscle cell precursors and kidney defects including hydronephrosis. The encoded transcription factor comprises a gene silencing complex that inhibits caspase expression. Reduced expression of this gene and consequent caspase upregulation may be correlated with progression of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2016] Expression Broad expression in ovary (RPKM 16.6), endometrium (RPKM 15.6) and 19 other tissues See more Orthologs mouse all
TSIX, Official Symbol TSIXprovided by HGNC Official Full Name TSIX transcript, XIST antisense RNAprovided by HGNC Primary source HGNC:HGNC:12377 See related Ensembl:ENSG00000270641 MIM:300181; AllianceGenome:HGNC:12377 Gene type ncRNA RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as XISTAS; XIST-AS; XIST-AS1; LINC00013; NCRNA00013 Summary In mammals, dosage compensation of genes on the X chromosome occurs by X inactivation, which is regulated in cis by the X-inactivation center (XIC) and expression of the XIST non-coding RNA. This gene expresses a non-coding antisense transcript across the 3' end of the XIST locus, and is coexpressed with XIST only from the inactive X chromosome. The mouse ortholog of this locus is required for imprinted X inactivation in extraembryonic tissues and silences Xist through modification of the chromatin structure in the Xist promoter region. In contrast, imprinted X inactivation does not occur in human extraembryonic tissues and transcripts from this locus do not repress XIST expression or affect random X chromosome inactivation in embryonic cells. This transcript is thought to be unspliced and extend over more than 30 kb, but its exact nature has not been determined. [provided by RefSeq, Jul 2008]
TSKS, Official Symbol TSKSprovided by HGNC Official Full Name testis specific serine kinase substrateprovided by HGNC Primary source HGNC:HGNC:30719 See related Ensembl:ENSG00000126467 MIM:608253; AllianceGenome:HGNC:30719 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 TSKS1; TSSKS; STK22S1; PPP1R161 Summary This gene may play a role in testicular physiology, spermatogenesis or spermiogenesis. Expression of the encoded protein is highest in the testis and down-regulated in testicular cancer. The gene is localized to the region 19q13.3 among the related RAS viral oncogene homolog (RRAS) and interferon regulatory factor 3 (IRF3) genes, which are both involved in tumorigenesis pathways and progression. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 31.5) See more Orthologs mouse all
TSKU, Official Symbol TSKUprovided by HGNC Official Full Name tsukushi, small leucine rich proteoglycanprovided by HGNC Primary source HGNC:HGNC:28850 See related Ensembl:ENSG00000182704 MIM:608015; AllianceGenome:HGNC:28850 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 TSK; E2IG4; LRRC54 Summary Predicted to enable transforming growth factor beta binding activity. Predicted to be involved in several processes, including animal organ development; cholesterol efflux; and cholesterol homeostasis. Predicted to act upstream of or within several processes, including ciliary body morphogenesis; negative regulation of Wnt signaling pathway; and telencephalon development. Predicted to be located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in liver (RPKM 39.4), fat (RPKM 26.7) and 20 other tissues See more Orthologs mouse all
TSLP, Official Symbol TSLPprovided by HGNC Official Full Name thymic stromal lymphopoietinprovided by HGNC Primary source HGNC:HGNC:30743 See related Ensembl:ENSG00000145777 MIM:607003; AllianceGenome:HGNC:30743 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 hemopoietic cytokine proposed to signal through a heterodimeric receptor complex composed of the thymic stromal lymphopoietin receptor and the IL-7R alpha chain. It mainly impacts myeloid cells and induces the release of T cell-attracting chemokines from monocytes and enhances the maturation of CD11c(+) dendritic cells. The protein promotes T helper type 2 (TH2) cell responses that are associated with immunity in various inflammatory diseases, including asthma, allergic inflammation and chronic obstructive pulmonary disease. The protein is therefore considered a potential therapeutic target for the treatment of such diseases. In addition, the shorter (predominant) isoform is an antimicrobial protein, displaying antibacterial and antifungal activity against B. cereus, E. coli, E. faecalis, S. mitis, S. epidermidis, and C. albicans. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2020] Expression Broad expression in gall bladder (RPKM 3.6), liver (RPKM 3.0) and 15 other tissues See more Orthologs mouse all
TSN, Official Symbol TSNprovided by HGNC Official Full Name translinprovided by HGNC Primary source HGNC:HGNC:12379 See related Ensembl:ENSG00000211460 MIM:600575; AllianceGenome:HGNC:12379 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 C3PO; RCHF1; TBRBP; TRSLN; BCLF-1; REHF-1 Summary This gene encodes a DNA-binding protein which specifically recognizes conserved target sequences at the breakpoint junction of chromosomal translocations. Translin polypeptides form a multimeric structure that is responsible for its DNA-binding activity. Recombination-associated motifs and translin-binding sites are present at recombination hotspots and may serve as indicators of breakpoints in genes which are fused by translocations. These binding activities may play a crucial role in chromosomal translocation in lymphoid neoplasms. This protein encoded by this gene, when complexed with translin-associated protein X, also forms a Mg ion-dependent endoribonuclease that promotes RNA-induced silencing complex (RISC) activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] Expression Ubiquitous expression in testis (RPKM 26.5), brain (RPKM 20.8) and 25 other tissues See more Orthologs mouse all
TSNARE1, Official Symbol TSNARE1provided by HGNC Official Full Name t-SNARE domain containing 1provided by HGNC Primary source HGNC:HGNC:26437 See related Ensembl:ENSG00000171045 AllianceGenome:HGNC:26437 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 SNAP receptor activity and SNARE binding activity. Predicted to be involved in intracellular protein transport; vesicle docking; and vesicle fusion. Predicted to be located in membrane. Predicted to be part of SNARE complex. Predicted to be active in endomembrane system. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 3.2), ovary (RPKM 2.2) and 25 other tissues See more Orthologs mouse all
TSNAX, Official Symbol TSNAXprovided by HGNC Official Full Name translin associated factor Xprovided by HGNC Primary source HGNC:HGNC:12380 See related Ensembl:ENSG00000116918 MIM:602964; AllianceGenome:HGNC:12380 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 C3PO; TRAX Summary This gene encodes a protein which specifically interacts with translin, a DNA-binding protein that binds consensus sequences at breakpoint junctions of chromosomal translocations. The encoded protein contains bipartite nuclear targeting sequences that may provide nuclear transport for translin, which lacks any nuclear targeting motifs. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in adrenal (RPKM 19.1), thyroid (RPKM 18.7) and 25 other tissues See more Orthologs mouse all
TSNAX-DISC1, Official Symbol TSNAX-DISC1provided by HGNC Official Full Name TSNAX-DISC1 readthrough (NMD candidate)provided by HGNC Primary source HGNC:HGNC:49177 See related Ensembl:ENSG00000270106 AllianceGenome:HGNC:49177 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene represents naturally occurring read-through transcription between the neighboring TSNAX (translin-associated factor X) and DISC1 (disrupted in schizophrenia 1) genes on chromosome 1. Alternative splicing results in multiple transcript variants, all of which are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to be protein-coding. These alterations in gene processing may be associated with risk for psychiatric illness, most notably, schizophrenia. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in placenta (RPKM 3.7), brain (RPKM 2.9) and 25 other tissues See more
TSNAXIP1, Official Symbol TSNAXIP1provided by HGNC Official Full Name translin associated factor X interacting protein 1provided by HGNC Primary source HGNC:HGNC:18586 See related Ensembl:ENSG00000102904 MIM:607720; AllianceGenome:HGNC:18586 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 TXI1 Summary Predicted to be involved in cell differentiation and spermatogenesis. Predicted to be located in perinuclear region of cytoplasm. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 14.4), brain (RPKM 1.0) and 3 other tissues See more Orthologs mouse all