psui3905/ncbi_genes_summary huggingface dataset:
TUSC2P2, Official Symbol TUSC2P2provided by HGNC Official Full Name TUSC2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:53818 See related Ensembl:ENSG00000285445 AllianceGenome:HGNC:53818 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TUSC3, Official Symbol TUSC3provided by HGNC Official Full Name tumor suppressor candidate 3provided by HGNC Primary source HGNC:HGNC:30242 See related Ensembl:ENSG00000104723 MIM:601385; AllianceGenome:HGNC:30242 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 M33; N33; MRT7; MRT22; MagT2; OST3A; D8S1992; SLC58A2 Summary This gene encodes a protein that has been associated with several biological functions including cellular magnesium uptake, protein glycosylation and embryonic development. This protein localizes to the endoplasmic reticulum and acts as a component of the oligosaccharyl transferase complex which is responsible for N-linked protein glycosylation. This gene is a candidate tumor suppressor gene. Homozygous mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation-7 and in the proliferation and invasiveness of several cancers including metastatic pancreatic cancer, ovarian cancer and glioblastoma multiform. [provided by RefSeq, Oct 2017] Expression Broad expression in placenta (RPKM 11.3), adrenal (RPKM 9.7) and 23 other tissues See more Orthologs mouse all
TUSC7, Official Symbol TUSC7provided by HGNC Official Full Name tumor suppressor candidate 7provided by HGNC Primary source HGNC:HGNC:27701 See related Ensembl:ENSG00000243197 MIM:616057; AllianceGenome:HGNC:27701 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 LSAMPAS3; LINC00902; LSAMP-AS1; LSAMP-AS3; NCRNA00295 Expression Restricted expression toward testis (RPKM 5.6) See more
TUSC8, Official Symbol TUSC8provided by HGNC Official Full Name tumor suppressor candidate 8provided by HGNC Primary source HGNC:HGNC:49111 See related Ensembl:ENSG00000237361 AllianceGenome:HGNC:49111 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 LINC01071; XLOC_010588 Expression Biased expression in prostate (RPKM 1.7), salivary gland (RPKM 1.7) and 7 other tissues See more
TUT1, Official Symbol TUT1provided by HGNC Official Full Name terminal uridylyl transferase 1, U6 snRNA-specificprovided by HGNC Primary source HGNC:HGNC:26184 See related Ensembl:ENSG00000149016 MIM:610641; AllianceGenome:HGNC:26184 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 PAPD2; RBM21; TENT1; URLC6; TUTase; STARPAP Summary This gene encodes a nucleotidyl transferase that functions as both a terminal uridylyltransferase and a nuclear poly(A) polymerase. The encoded enzyme specifically adds and removes nucleotides from the 3' end of small nuclear RNAs and select mRNAs and may function in controlling gene expression and cell proliferation.[provided by RefSeq, Apr 2009] Expression Ubiquitous expression in testis (RPKM 10.1), spleen (RPKM 7.4) and 25 other tissues See more Orthologs mouse all
TUT4, Official Symbol TUT4provided by HGNC Official Full Name terminal uridylyl transferase 4provided by HGNC Primary source HGNC:HGNC:28981 See related Ensembl:ENSG00000134744 MIM:613692; AllianceGenome:HGNC:28981 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 PAPD3; TENT3A; ZCCHC11 Summary Enables RNA uridylyltransferase activity. Involved in RNA metabolic process; negative regulation of transposition, RNA-mediated; and stem cell population maintenance. Located in cytoplasmic ribonucleoprotein granule; cytosol; and nucleolus. Implicated in liver benign neoplasm. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 11.1), thyroid (RPKM 9.7) and 25 other tissues See more Orthologs mouse all
TUT7, Official Symbol TUT7provided by HGNC Official Full Name terminal uridylyl transferase 7provided by HGNC Primary source HGNC:HGNC:25817 See related Ensembl:ENSG00000083223 MIM:613467; AllianceGenome:HGNC:25817 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 PAPD6; TENT3B; ZCCHC6 Summary Enables RNA uridylyltransferase activity and miRNA binding activity. Involved in RNA metabolic process and negative regulation of transposition, RNA-mediated. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 7.8), skin (RPKM 6.8) and 25 other tissues See more Orthologs mouse all
TVP23A, Official Symbol TVP23Aprovided by HGNC Official Full Name trans-golgi network vesicle protein 23 homolog Aprovided by HGNC Primary source HGNC:HGNC:20398 See related Ensembl:ENSG00000166676 AllianceGenome:HGNC:20398 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 FAM18A; YDR084C Summary This gene encodes a membrane protein associated with the Golgi apparatus, which plays a crucial role in intracellular vesicular transport. The encoded protein is likely associated with the late (trans) Golgi compartments, which are involved in the delivery of secretory and membrane proteins to the endosome, lysosome or the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in brain (RPKM 1.6), lymph node (RPKM 1.5) and 25 other tissues See more Orthologs mouse all
TVP23B, Official Symbol TVP23Bprovided by HGNC Official Full Name trans-golgi network vesicle protein 23 homolog Bprovided by HGNC Primary source HGNC:HGNC:20399 See related Ensembl:ENSG00000171928 AllianceGenome:HGNC:20399 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 FAM18B; NPD008; CGI-148; FAM18B1; YDR084C Summary Predicted to be involved in protein secretion and vesicle-mediated transport. Predicted to be integral component of membrane. Predicted to be integral component of Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 19.1), adrenal (RPKM 15.3) and 25 other tissues See more Orthologs mouse all
TVP23C, Official Symbol TVP23Cprovided by HGNC Official Full Name trans-golgi network vesicle protein 23 homolog Cprovided by HGNC Primary source HGNC:HGNC:30453 See related Ensembl:ENSG00000175106 AllianceGenome:HGNC:30453 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 FAM18B2 Summary Predicted to be involved in protein secretion and vesicle-mediated transport. Predicted to be integral component of membrane. Predicted to be integral component of Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 7.5), adrenal (RPKM 5.9) and 25 other tissues See more Orthologs all
TVP23C-CDRT4, Official Symbol TVP23C-CDRT4provided by HGNC Official Full Name TVP23C-CDRT4 readthroughprovided by HGNC Primary source HGNC:HGNC:42961 See related Ensembl:ENSG00000259024 AllianceGenome:HGNC:42961 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 TVP23C; FAM18B2; FAM18B2-CDRT4 Summary This locus represents naturally occurring readthrough transcription between the neighboring TVP23C (trans-golgi network vesicle protein 23 homolog) and CDRT4 (CMT1A duplicated region transcript 4) genes on chromosome 17. Alternative splicing results in multiple transcript variants, one of which encodes a protein that shares sequence identity with the upstream gene product, but its C-terminus is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Apr 2014] Expression Ubiquitous expression in thyroid (RPKM 9.0), testis (RPKM 8.5) and 25 other tissues See more
TVP23CP1, Official Symbol TVP23CP1provided by HGNC Official Full Name TVP23C pseudogene 1provided by HGNC Primary source HGNC:HGNC:44646 See related Ensembl:ENSG00000223584 AllianceGenome:HGNC:44646 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TWF1, Official Symbol TWF1provided by HGNC Official Full Name twinfilin actin binding protein 1provided by HGNC Primary source HGNC:HGNC:9620 See related Ensembl:ENSG00000151239 MIM:610932; AllianceGenome:HGNC:9620 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 A6; PTK9 Summary This gene encodes twinfilin, an actin monomer-binding protein conserved from yeast to mammals. Studies of the mouse counterpart suggest that this protein may be an actin monomer-binding protein, and its localization to cortical G-actin-rich structures may be regulated by the small GTPase RAC1. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in esophagus (RPKM 46.7), thyroid (RPKM 44.3) and 25 other tissues See more Orthologs mouse all
TWF2, Official Symbol TWF2provided by HGNC Official Full Name twinfilin actin binding protein 2provided by HGNC Primary source HGNC:HGNC:9621 See related Ensembl:ENSG00000247596 MIM:607433; AllianceGenome:HGNC:9621 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 A6r; A6RP; PTK9L; MSTP011 Summary The protein encoded by this gene was identified by its interaction with the catalytic domain of protein kinase C-zeta. The encoded protein contains an actin-binding site and an ATP-binding site. It is most closely related to twinfilin (PTK9), a conserved actin monomer-binding protein. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 28.1), heart (RPKM 27.1) and 25 other tissues See more Orthologs mouse all
TWIST1, Official Symbol TWIST1provided by HGNC Official Full Name twist family bHLH transcription factor 1provided by HGNC Primary source HGNC:HGNC:12428 See related Ensembl:ENSG00000122691 MIM:601622; AllianceGenome:HGNC:12428 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 CRS; CSO; SCS; ACS3; CRS1; BPES2; BPES3; SWCOS; TWIST; bHLHa38 Summary This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis, as well as metastatic recurrence. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Jul 2020] Expression Biased expression in fat (RPKM 17.1), endometrium (RPKM 12.4) and 10 other tissues See more Orthologs mouse all
TWIST2, Official Symbol TWIST2provided by HGNC Official Full Name twist family bHLH transcription factor 2provided by HGNC Primary source HGNC:HGNC:20670 See related Ensembl:ENSG00000233608 MIM:607556; AllianceGenome:HGNC:20670 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 AMS; FFDD3; BBRSAY; DERMO1; SETLSS; bHLHa39 Summary The protein encoded by this gene is a basic helix-loop-helix type transcription factor and shares similarity with Twist. This protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype during osteoblast development. This gene may be upregulated in certain cancers. Mutations in this gene cause focal facial dermal dysplasia 3, Setleis type. Two transcript variants encoding the same protein have been found. [provided by RefSeq, Apr 2014] Expression Biased expression in fat (RPKM 11.9), endometrium (RPKM 7.9) and 10 other tissues See more Orthologs mouse all
TWNK, Official Symbol TWNKprovided by HGNC Official Full Name twinkle mtDNA helicaseprovided by HGNC Primary source HGNC:HGNC:1160 See related Ensembl:ENSG00000107815 MIM:606075; AllianceGenome:HGNC:1160 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 PEO; PEO1; SCA8; ATXN8; IOSCA; PEOA3; SANDO; TWINL; MTDPS7; PRLTS5; C10orf2 Summary This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009] Expression Ubiquitous expression in testis (RPKM 6.0), lymph node (RPKM 3.3) and 25 other tissues See more Orthologs mouse all
TWSG1, Official Symbol TWSG1provided by HGNC Official Full Name twisted gastrulation BMP signaling modulator 1provided by HGNC Primary source HGNC:HGNC:12429 See related Ensembl:ENSG00000128791 MIM:605049; AllianceGenome:HGNC:12429 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 TSG Summary Enables transforming growth factor beta binding activity. Involved in several processes, including negative regulation of CD4-positive, alpha-beta T cell proliferation; positive regulation of pathway-restricted SMAD protein phosphorylation; and transforming growth factor beta receptor signaling pathway. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in endometrium (RPKM 35.8), gall bladder (RPKM 26.4) and 24 other tissues See more Orthologs mouse all
TWSG1-DT, Official Symbol TWSG1-DTprovided by HGNC Official Full Name TWSG1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:55329 See related AllianceGenome:HGNC:55329 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
TXK, Official Symbol TXKprovided by HGNC Official Full Name TXK tyrosine kinaseprovided by HGNC Primary source HGNC:HGNC:12434 See related Ensembl:ENSG00000074966 MIM:600058; AllianceGenome:HGNC:12434 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 RLK; TKL; BTKL; PTK4; PSCTK5 Summary Predicted to enable non-membrane spanning protein tyrosine kinase activity. Involved in positive regulation of interferon-gamma-mediated signaling pathway; positive regulation of macromolecule metabolic process; and protein autophosphorylation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lymph node (RPKM 5.7), spleen (RPKM 3.3) and 15 other tissues See more Orthologs mouse all
TXLNA, Official Symbol TXLNAprovided by HGNC Official Full Name taxilin alphaprovided by HGNC Primary source HGNC:HGNC:30685 See related Ensembl:ENSG00000084652 MIM:608676; AllianceGenome:HGNC:30685 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 IL14; TXLN Summary Predicted to enable syntaxin binding activity. Predicted to be involved in exocytosis. Predicted to act upstream of or within B cell activation. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 17.8), skin (RPKM 14.9) and 25 other tissues See more Orthologs mouse all
TXLNB, Official Symbol TXLNBprovided by HGNC Official Full Name taxilin betaprovided by HGNC Primary source HGNC:HGNC:21617 See related Ensembl:ENSG00000164440 MIM:611438; AllianceGenome:HGNC:21617 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 MDP77; LST001; C6orf198; dJ522B19.2 Summary Predicted to enable syntaxin binding activity. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in heart (RPKM 26.4), ovary (RPKM 5.2) and 4 other tissues See more Orthologs mouse all
TXLNG, Official Symbol TXLNGprovided by HGNC Official Full Name taxilin gammaprovided by HGNC Primary source HGNC:HGNC:18578 See related Ensembl:ENSG00000086712 MIM:300677; AllianceGenome:HGNC:18578 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 ELRG; FIAT; LSR5; TXLNGX; CXorf15 Summary This gene encodes a member of the taxilin family. The encoded protein binds to the C-terminal coiled-coil region of syntaxin family members 1A, 3A and 4A, and may play a role in intracellular vesicle trafficking. This gene is up-regulated by lipopolysaccharide and the gene product may be involved in cell cycle regulation. The related mouse protein was also shown to inhibit activating transcription factor 4-mediated transcription and thus regulate bone mass accrual. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] Expression Ubiquitous expression in adrenal (RPKM 8.1), fat (RPKM 7.1) and 25 other tissues See more Orthologs mouse all
TXN, Official Symbol TXNprovided by HGNC Official Full Name thioredoxinprovided by HGNC Primary source HGNC:HGNC:12435 See related Ensembl:ENSG00000136810 MIM:187700; AllianceGenome:HGNC:12435 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 TRX; TRDX; TRX1; TXN1; Trx80 Summary The protein encoded by this gene acts as a homodimer and is involved in many redox reactions. The encoded protein is active in the reversible S-nitrosylation of cysteines in certain proteins, which is part of the response to intracellular nitric oxide. This protein is found in the cytoplasm. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in esophagus (RPKM 218.4), colon (RPKM 150.6) and 24 other tissues See more Orthologs mouse all
TXN2, Official Symbol TXN2provided by HGNC Official Full Name thioredoxin 2provided by HGNC Primary source HGNC:HGNC:17772 See related Ensembl:ENSG00000100348 MIM:609063; AllianceGenome:HGNC:17772 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 TXN; MTRX; TRX2; MT-TRX; COXPD29 Summary This nuclear gene encodes a mitochondrial member of the thioredoxin family, a group of small multifunctional redox-active proteins. The encoded protein may play important roles in the regulation of the mitochondrial membrane potential and in protection against oxidant-induced apoptosis. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in adrenal (RPKM 39.7), kidney (RPKM 28.5) and 25 other tissues See more Orthologs mouse all
TXNDC11, Official Symbol TXNDC11provided by HGNC Official Full Name thioredoxin domain containing 11provided by HGNC Primary source HGNC:HGNC:28030 See related Ensembl:ENSG00000153066 MIM:617792; AllianceGenome:HGNC:28030 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 EFP1 Summary Predicted to be located in endoplasmic reticulum membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 51.7), thyroid (RPKM 30.4) and 25 other tissues See more Orthologs mouse all
TXNDC12, Official Symbol TXNDC12provided by HGNC Official Full Name thioredoxin domain containing 12provided by HGNC Primary source HGNC:HGNC:24626 See related Ensembl:ENSG00000117862 MIM:609448; AllianceGenome:HGNC:24626 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 AG1; AGR1; ERP16; ERP18; ERP19; TLP19; hAG-1; PDIA16; hTLP19 Summary This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. This protein localizes to the endoplasmic reticulum and has a single atypical active motif. The encoded protein is mainly involved in catalyzing native disulfide bond formation and displays activity similar to protein-disulfide isomerases. This protein may play a role in defense against endoplasmic reticulum stress. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in colon (RPKM 12.7), thyroid (RPKM 11.7) and 25 other tissues See more Orthologs mouse all
TXNDC12-AS1, Official Symbol TXNDC12-AS1provided by HGNC Official Full Name TXNDC12 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:30008 See related Ensembl:ENSG00000228369 AllianceGenome:HGNC:30008 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
TXNDC15, Official Symbol TXNDC15provided by HGNC Official Full Name thioredoxin domain containing 15provided by HGNC Primary source HGNC:HGNC:20652 See related Ensembl:ENSG00000113621 MIM:617778; AllianceGenome:HGNC:20652 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 BUG; MKS14; UNQ335; C5orf14 Summary This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. [provided by RefSeq, Apr 2017] Expression Ubiquitous expression in thyroid (RPKM 14.9), endometrium (RPKM 10.8) and 25 other tissues See more Orthologs mouse all
TXNDC16, Official Symbol TXNDC16provided by HGNC Official Full Name thioredoxin domain containing 16provided by HGNC Primary source HGNC:HGNC:19965 See related Ensembl:ENSG00000087301 MIM:616179; AllianceGenome:HGNC:19965 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 ERp90; KIAA1344 Summary Located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 12.7), brain (RPKM 6.3) and 25 other tissues See more Orthologs mouse all
TXNDC17, Official Symbol TXNDC17provided by HGNC Official Full Name thioredoxin domain containing 17provided by HGNC Primary source HGNC:HGNC:28218 See related Ensembl:ENSG00000129235 MIM:616967; AllianceGenome:HGNC:28218 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 TRP14; TXNL5 Summary Enables peroxidase activity and protein-disulfide reductase (NAD(P)) activity. Involved in tumor necrosis factor-mediated signaling pathway. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 14.3), esophagus (RPKM 13.2) and 25 other tissues See more Orthologs mouse all
TXNDC2, Official Symbol TXNDC2provided by HGNC Official Full Name thioredoxin domain containing 2provided by HGNC Primary source HGNC:HGNC:16470 See related Ensembl:ENSG00000168454 MIM:617790; AllianceGenome:HGNC:16470 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 SPTRX; SPTRX1 Summary Enables thioredoxin-disulfide reductase activity. Predicted to be involved in cell differentiation and cellular oxidant detoxification. Predicted to act upstream of or within cellular response to reactive oxygen species and flagellated sperm motility. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 25.5) See more Orthologs mouse all
TXNDC5, Official Symbol TXNDC5provided by HGNC Official Full Name thioredoxin domain containing 5provided by HGNC Primary source HGNC:HGNC:21073 See related Ensembl:ENSG00000239264 MIM:616412; AllianceGenome:HGNC:21073 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 HCC2; ERP46; HCC-2; STRF8; PDIA15; UNQ364; ENDOPDI Summary This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal endoplasmic reticulum (ER)-signal sequence, three catalytically active thioredoxin domains and a C-terminal ER-retention sequence. Its expression is induced by hypoxia and its role may be to protect hypoxic cells from apoptosis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S5 gene. [provided by RefSeq, Dec 2016] Expression Ubiquitous expression in urinary bladder (RPKM 151.7), colon (RPKM 127.4) and 25 other tissues See more Orthologs mouse all
TXNDC8, Official Symbol TXNDC8provided by HGNC Official Full Name thioredoxin domain containing 8provided by HGNC Primary source HGNC:HGNC:31454 See related Ensembl:ENSG00000204193 MIM:617789; AllianceGenome:HGNC:31454 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 TRX6; SPTRX3; SPTRX-3; bA427L11.2 Summary Involved in spermatogenesis. Located in Golgi apparatus. Biomarker of male infertility. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 1.1) See more Orthologs mouse all
TXNDC9, Official Symbol TXNDC9provided by HGNC Official Full Name thioredoxin domain containing 9provided by HGNC Primary source HGNC:HGNC:24110 See related Ensembl:ENSG00000115514 MIM:612564; AllianceGenome:HGNC:24110 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 APACD; PHLP3 Summary The protein encoded by this gene is a member of the thioredoxin family. The exact function of this protein is not known but it is associated with cell differentiation. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 9.5), lymph node (RPKM 9.3) and 25 other tissues See more Orthologs mouse all
TXNIP, Official Symbol TXNIPprovided by HGNC Official Full Name thioredoxin interacting proteinprovided by HGNC Primary source HGNC:HGNC:16952 See related Ensembl:ENSG00000265972 MIM:606599; AllianceGenome:HGNC:16952 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 THIF; VDUP1; ARRDC6; HHCPA78; EST01027 Summary This gene encodes a thioredoxin-binding protein that is a member of the alpha arrestin protein family. Thioredoxin is a thiol-oxidoreductase that is a major regulator of cellular redox signaling which protects cells from oxidative stress. This protein inhibits the antioxidative function of thioredoxin resulting in the accumulation of reactive oxygen species and cellular stress. This protein also functions as a regulator of cellular metabolism and of endoplasmic reticulum (ER) stress. This protein may also function as a tumor suppressor. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015] Expression Ubiquitous expression in fat (RPKM 1044.5), spleen (RPKM 514.7) and 23 other tissues See more Orthologs mouse all
TXNL1, Official Symbol TXNL1provided by HGNC Official Full Name thioredoxin like 1provided by HGNC Primary source HGNC:HGNC:12436 See related Ensembl:ENSG00000091164 MIM:603049; AllianceGenome:HGNC:12436 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 Txl; TXNL; TRP32; TXL-1; HEL-S-114 Summary Enables disulfide oxidoreductase activity. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 57.8), testis (RPKM 14.4) and 25 other tissues See more Orthologs mouse all
TXNL1P1, Official Symbol TXNL1P1provided by HGNC Official Full Name thioredoxin like 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39459 See related Ensembl:ENSG00000231879 AllianceGenome:HGNC:39459 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TXNL4A, Official Symbol TXNL4Aprovided by HGNC Official Full Name thioredoxin like 4Aprovided by HGNC Primary source HGNC:HGNC:30551 See related Ensembl:ENSG00000141759 MIM:611595; AllianceGenome:HGNC:30551 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 BMKS; DIB1; DIM1; TXNL4; SNRNP15; U5-15kD Summary The protein encoded by this gene is a member of the U5 small ribonucleoprotein particle (snRNP), and is involved in pre-mRNA splicing. This protein contains a thioredoxin-like fold and it is expected to interact with multiple proteins. Protein-protein interactions have been observed with the polyglutamine tract-binding protein 1 (PQBP1). Mutations in both the coding region and promoter region of this gene have been associated with Burn-McKeown syndrome, which is a rare disorder characterized by craniofacial dysmorphisms, cardiac defects, hearing loss, and bilateral choanal atresia. A pseudogene of this gene is found on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015] Expression Ubiquitous expression in brain (RPKM 13.4), testis (RPKM 11.6) and 25 other tissues See more Orthologs mouse all
TXNL4AP1, Official Symbol TXNL4AP1provided by HGNC Official Full Name TXNL4A pseudogene 1provided by HGNC Primary source HGNC:HGNC:54569 See related AllianceGenome:HGNC:54569 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TXNL4B, Official Symbol TXNL4Bprovided by HGNC Official Full Name thioredoxin like 4Bprovided by HGNC Primary source HGNC:HGNC:26041 See related Ensembl:ENSG00000140830 MIM:617722; AllianceGenome:HGNC:26041 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 DLP; Dim2 Summary Predicted to be involved in mRNA splicing, via spliceosome. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 7.1), testis (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
TXNP2, Official Symbol TXNP2provided by HGNC Official Full Name thioredoxin pseudogene 2provided by HGNC Primary source HGNC:HGNC:49482 See related AllianceGenome:HGNC:49482 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TXNP4, Official Symbol TXNP4provided by HGNC Official Full Name thioredoxin pseudogene 4provided by HGNC Primary source HGNC:HGNC:49484 See related AllianceGenome:HGNC:49484 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TXNP5, Official Symbol TXNP5provided by HGNC Official Full Name thioredoxin pseudogene 5provided by HGNC Primary source HGNC:HGNC:49485 See related AllianceGenome:HGNC:49485 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TXNRD1, Official Symbol TXNRD1provided by HGNC Official Full Name thioredoxin reductase 1provided by HGNC Primary source HGNC:HGNC:12437 See related Ensembl:ENSG00000198431 MIM:601112; AllianceGenome:HGNC:12437 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 TR; TR1; TXNR; TRXR1; TXNR1; GRIM-12 Summary The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes an ubiquitously expressed, cytosolic form of TrxR, which functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternative splicing, primarily at the 5' end, results in transcript variants encoding same or different isoforms, including a glutaredoxin-containing isoform that is predominantly expressed in testis. [provided by RefSeq, May 2017] Expression Ubiquitous expression in adrenal (RPKM 41.8), gall bladder (RPKM 31.2) and 24 other tissues See more Orthologs mouse all
TXNRD2, Official Symbol TXNRD2provided by HGNC Official Full Name thioredoxin reductase 2provided by HGNC Primary source HGNC:HGNC:18155 See related Ensembl:ENSG00000184470 MIM:606448; AllianceGenome:HGNC:18155 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 TR; TR3; SELZ; GCCD5; TRXR2; TXNR2; TR-BETA Summary The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes a mitochondrial form important for scavenging reactive oxygen species in mitochondria. It functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants encoding different isoforms, including a few localized in the cytosol and some lacking the C-terminal Sec residue, have been found for this gene. [provided by RefSeq, Jun 2017] Expression Ubiquitous expression in adrenal (RPKM 8.7), prostate (RPKM 8.7) and 25 other tissues See more Orthologs mouse all
TXNRD3, Official Symbol TXNRD3provided by HGNC Official Full Name thioredoxin reductase 3provided by HGNC Primary source HGNC:HGNC:20667 See related Ensembl:ENSG00000197763 MIM:606235; AllianceGenome:HGNC:20667 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 TGR; TR2; TRXR3; TXNR3; TR2IT1; TXNRD3NB; TXNRD3IT1; TXNRD3NT1 Summary The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes the third TrxR, which unlike the other two isozymes, contains an additional N-terminal glutaredoxin (Grx) domain, and shows highest expression in testis. The Grx domain allows this isozyme to participate in both Trx and glutathione systems. It functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. Experimental evidence suggests the use of a non-AUG (CUG) codon as a translation initiation codon (PMID:20018845). [provided by RefSeq, Aug 2017] Expression Broad expression in testis (RPKM 13.6), thyroid (RPKM 4.0) and 21 other tissues See more Orthologs mouse all
TYK2, Official Symbol TYK2provided by HGNC Official Full Name tyrosine kinase 2provided by HGNC Primary source HGNC:HGNC:12440 See related Ensembl:ENSG00000105397 MIM:176941; AllianceGenome:HGNC:12440 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 JTK1; IMD35 Summary This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also a component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with Immunodeficiency 35. [provided by RefSeq, Sep 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Ubiquitous expression in spleen (RPKM 21.6), bone marrow (RPKM 20.9) and 25 other tissues See more Orthologs mouse all
TYMP, Official Symbol TYMPprovided by HGNC Official Full Name thymidine phosphorylaseprovided by HGNC Primary source HGNC:HGNC:3148 See related Ensembl:ENSG00000025708 MIM:131222; AllianceGenome:HGNC:3148 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 TP; ECGF; ECGF1; MNGIE; MEDPS1; MTDPS1; PDECGF; hPD-ECGF Summary This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2012] Expression Broad expression in appendix (RPKM 56.4), spleen (RPKM 37.3) and 21 other tissues See more Orthologs mouse all
TYMS, Official Symbol TYMSprovided by HGNC Official Full Name thymidylate synthetaseprovided by HGNC Primary source HGNC:HGNC:12441 See related Ensembl:ENSG00000176890 MIM:188350; AllianceGenome:HGNC:12441 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TS; TMS; DKCD; HST422 Summary Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using, 10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair. The enzyme has been of interest as a target for cancer chemotherapeutic agents. It is considered to be the primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogs. Expression of this gene and that of a naturally occurring antisense transcript, mitochondrial enolase superfamily member 1 (GeneID:55556), vary inversely when cell-growth progresses from late-log to plateau phase. Polymorphisms in this gene may be associated with etiology of neoplasia, including breast cancer, and response to chemotherapy. [provided by RefSeq, Aug 2017] Expression Broad expression in bone marrow (RPKM 46.3), testis (RPKM 32.5) and 21 other tissues See more Orthologs mouse all
TYMSP1, Official Symbol TYMSP1provided by HGNC Official Full Name thymidylate synthetase pseudogene 1provided by HGNC Primary source HGNC:HGNC:52351 See related Ensembl:ENSG00000219139 AllianceGenome:HGNC:52351 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TYMSP2, Official Symbol TYMSP2provided by HGNC Official Full Name thymidylate synthetase pseudogene 2provided by HGNC Primary source HGNC:HGNC:52352 See related Ensembl:ENSG00000267190 AllianceGenome:HGNC:52352 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TYR, Official Symbol TYRprovided by HGNC Official Full Name tyrosinaseprovided by HGNC Primary source HGNC:HGNC:12442 See related Ensembl:ENSG00000077498 MIM:606933; AllianceGenome:HGNC:12442 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 ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3 Summary The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008] Expression Restricted expression toward skin (RPKM 11.8) See more Orthologs mouse all