psui3905/ncbi_genes_summary huggingface dataset:
TICAM2, Official Symbol TICAM2provided by HGNC Official Full Name TIR domain containing adaptor molecule 2provided by HGNC Primary source HGNC:HGNC:21354 See related Ensembl:ENSG00000243414 MIM:608321; AllianceGenome:HGNC:21354 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 TIRP; TRAM; TIRAP3; MyD88-4; TICAM-2 Summary Predicted to enable phospholipid binding activity. Involved in several processes, including TRAM-dependent toll-like receptor 4 signaling pathway; regulation of chemokine (C-C motif) ligand 5 production; and regulation of toll-like receptor 4 signaling pathway. Located in endoplasmic reticulum; endosome; and phagocytic cup. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in appendix (RPKM 4.0), spleen (RPKM 3.2) and 25 other tissues See more Orthologs mouse all
TICRR, Official Symbol TICRRprovided by HGNC Official Full Name TOPBP1 interacting checkpoint and replication regulatorprovided by HGNC Primary source HGNC:HGNC:28704 See related Ensembl:ENSG00000140534 MIM:613298; AllianceGenome:HGNC:28704 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 SLD3; Treslin; C15orf42 Summary Enables chromatin binding activity. Involved in regulation of DNA-dependent DNA replication initiation. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 1.6), testis (RPKM 1.3) and 20 other tissues See more Orthologs mouse all
TIE1, Official Symbol TIE1provided by HGNC Official Full Name tyrosine kinase with immunoglobulin like and EGF like domains 1provided by HGNC Primary source HGNC:HGNC:11809 See related Ensembl:ENSG00000066056 MIM:600222; AllianceGenome:HGNC:11809 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 TIE; JTK14; LMPHM11 Summary This gene encodes a member of the tyrosine protein kinase family. The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through the endothelial receptor tyrosine kinase Tie2. Ectodomain cleavage of the encoded protein relieves inhibition of Tie2 and is mediated by multiple factors including vascular endothelial growth factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] Expression Broad expression in placenta (RPKM 23.3), fat (RPKM 19.2) and 21 other tissues See more Orthologs mouse all
TIFA, Official Symbol TIFAprovided by HGNC Official Full Name TRAF interacting protein with forkhead associated domainprovided by HGNC Primary source HGNC:HGNC:19075 See related Ensembl:ENSG00000145365 MIM:609028; AllianceGenome:HGNC:19075 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 T2BP; T6BP; TIFAA Summary This gene encodes an adapter protein involved in adaptive and innate immunity. This protein includes a forkhead-associated (FHA) domain that specifically binds to phosphorylated serine and threonine residues. In response to bacterial infection, the encoded host cell protein undergoes an intermolecular interaction between the FHA domain and a phosphorylated threonine that leads to protein oligomerization and stimulation of the NF-kappa B and other downstream signaling pathways. This protein exhibits reduced expression in hepatocellular carcinoma and may suppress hepatocellular carcinoma progression. This protein may also play a role in the DNA damage response. [provided by RefSeq, Jun 2018] Expression Ubiquitous expression in lymph node (RPKM 11.2), thyroid (RPKM 11.0) and 25 other tissues See more Orthologs mouse all
TIFAB, Official Symbol TIFABprovided by HGNC Official Full Name TIFA inhibitorprovided by HGNC Primary source HGNC:HGNC:34024 See related Ensembl:ENSG00000255833 MIM:612663; AllianceGenome:HGNC:34024 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Involved in several processes, including animal organ morphogenesis; cranial nerve development; and hard palate morphogenesis. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lymph node (RPKM 4.5), appendix (RPKM 3.4) and 12 other tissues See more Orthologs mouse all
TIGAR, Official Symbol TIGARprovided by HGNC Official Full Name TP53 induced glycolysis regulatory phosphataseprovided by HGNC Primary source HGNC:HGNC:1185 See related Ensembl:ENSG00000078237 MIM:610775; AllianceGenome:HGNC:1185 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 FR2BP; C12orf5 Summary This gene is regulated as part of the p53 tumor suppressor pathway and encodes a protein with sequence similarity to the bisphosphate domain of the glycolytic enzyme that degrades fructose-2,6-bisphosphate. The protein functions by blocking glycolysis and directing the pathway into the pentose phosphate shunt. Expression of this protein also protects cells from DNA damaging reactive oxygen species and provides some protection from DNA damage-induced apoptosis. The 12p13.32 region that includes this gene is paralogous to the 11q13.3 region. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in urinary bladder (RPKM 2.3), colon (RPKM 2.2) and 24 other tissues See more Orthologs mouse all
TIGD1, Official Symbol TIGD1provided by HGNC Official Full Name tigger transposable element derived 1provided by HGNC Primary source HGNC:HGNC:14523 See related Ensembl:ENSG00000221944 MIM:612972; AllianceGenome:HGNC:14523 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 EEYORE Summary The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008] Orthologs all
TIGD2, Official Symbol TIGD2provided by HGNC Official Full Name tigger transposable element derived 2provided by HGNC Primary source HGNC:HGNC:18333 See related Ensembl:ENSG00000180346 MIM:612973; AllianceGenome:HGNC:18333 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 HEL106 Summary The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008] Orthologs mouse all
TIGD3, Official Symbol TIGD3provided by HGNC Official Full Name tigger transposable element derived 3provided by HGNC Primary source HGNC:HGNC:18334 See related Ensembl:ENSG00000173825 MIM:619084; AllianceGenome:HGNC:18334 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 2.0), small intestine (RPKM 1.1) and 14 other tissues See more Orthologs mouse all
TIGD4, Official Symbol TIGD4provided by HGNC Official Full Name tigger transposable element derived 4provided by HGNC Primary source HGNC:HGNC:18335 See related Ensembl:ENSG00000169989 AllianceGenome:HGNC:18335 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 2.4), thyroid (RPKM 0.5) and 15 other tissues See more Orthologs mouse all
TIGD5, Official Symbol TIGD5provided by HGNC Official Full Name tigger transposable element derived 5provided by HGNC Primary source HGNC:HGNC:18336 See related Ensembl:ENSG00000179886 AllianceGenome:HGNC:18336 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 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008] Orthologs mouse all
TIGD6, Official Symbol TIGD6provided by HGNC Official Full Name tigger transposable element derived 6provided by HGNC Primary source HGNC:HGNC:18332 See related Ensembl:ENSG00000164296 AllianceGenome:HGNC:18332 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 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in prostate (RPKM 1.9), testis (RPKM 1.8) and 25 other tissues See more Orthologs all
TIGD7, Official Symbol TIGD7provided by HGNC Official Full Name tigger transposable element derived 7provided by HGNC Primary source HGNC:HGNC:18331 See related Ensembl:ENSG00000140993 MIM:612969; AllianceGenome:HGNC:18331 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 Sancho Summary The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 5.6), ovary (RPKM 4.8) and 25 other tissues See more Orthologs all
TIGIT, Official Symbol TIGITprovided by HGNC Official Full Name T cell immunoreceptor with Ig and ITIM domainsprovided by HGNC Primary source HGNC:HGNC:26838 See related Ensembl:ENSG00000181847 MIM:612859; AllianceGenome:HGNC:26838 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 VSIG9; VSTM3; WUCAM Summary This gene encodes a member of the PVR (poliovirus receptor) family of immunoglobin proteins. The product of this gene is expressed on several classes of T cells including follicular B helper T cells (TFH). The protein has been shown to bind PVR with high affinity; this binding is thought to assist interactions between TFH and dendritic cells to regulate T cell dependent B cell responses.[provided by RefSeq, Sep 2009] Expression Biased expression in lymph node (RPKM 15.1), spleen (RPKM 5.9) and 7 other tissues See more Orthologs mouse all
TIMD4, Official Symbol TIMD4provided by HGNC Official Full Name T cell immunoglobulin and mucin domain containing 4provided by HGNC Primary source HGNC:HGNC:25132 See related Ensembl:ENSG00000145850 MIM:610096; AllianceGenome:HGNC:25132 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 TIM4; SMUCKLER Summary Predicted to enable phosphatidylserine binding activity. Predicted to act upstream of or within apoptotic cell clearance. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lymph node (RPKM 8.4), testis (RPKM 2.6) and 5 other tissues See more Orthologs all
TIMELESS, Official Symbol TIMELESSprovided by HGNC Official Full Name timeless circadian regulatorprovided by HGNC Primary source HGNC:HGNC:11813 See related Ensembl:ENSG00000111602 MIM:603887; AllianceGenome:HGNC:11813 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 TIM; TIM1; hTIM; FASPS4 Summary The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. [provided by RefSeq, Feb 2014] Expression Ubiquitous expression in lymph node (RPKM 8.6), bone marrow (RPKM 8.5) and 25 other tissues See more Orthologs mouse all
TIMM10, Official Symbol TIMM10provided by HGNC Official Full Name translocase of inner mitochondrial membrane 10provided by HGNC Primary source HGNC:HGNC:11814 See related Ensembl:ENSG00000134809 MIM:602251; AllianceGenome:HGNC:11814 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 TIM10; TIM10A; TIMM10A Summary The mitochondrial protein encoded by this gene belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane, functioning as intermembrane space chaperones for the highly insoluble carrier proteins. [provided by RefSeq, Nov 2011] Expression Ubiquitous expression in kidney (RPKM 18.4), liver (RPKM 14.8) and 25 other tissues See more Orthologs mouse all
TIMM10B, Official Symbol TIMM10Bprovided by HGNC Official Full Name translocase of inner mitochondrial membrane 10Bprovided by HGNC Primary source HGNC:HGNC:4022 See related Ensembl:ENSG00000132286 MIM:607388; AllianceGenome:HGNC:4022 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 FXC1; Tim9b; TIM10B Summary FXC1, or TIMM10B, belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004] Expression Ubiquitous expression in thyroid (RPKM 18.0), prostate (RPKM 12.0) and 25 other tissues See more Orthologs mouse all
TIMM13, Official Symbol TIMM13provided by HGNC Official Full Name translocase of inner mitochondrial membrane 13provided by HGNC Primary source HGNC:HGNC:11816 See related Ensembl:ENSG00000099800 MIM:607383; AllianceGenome:HGNC:11816 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 ppv1; TIM13; TIM13B; TIMM13A; TIMM13B Summary This gene encodes a member of the evolutionarily conserved TIMM (translocase of inner mitochondrial membrane) family of proteins that function as chaperones in the import of proteins from the cytoplasm into the mitochondrial inner membrane. Proteins of this family play a role in collecting substrate proteins from the translocase of the outer mitochondrial membrane (TOM) complex and delivering them to either the sorting and assembly machinery in the outer mitochondrial membrane (SAM) complex or the TIMM22 complex in the inner mitochondrial membrane. The encoded protein and the translocase of mitochondrial inner membrane 8a protein form a 70 kDa complex in the intermembrane space. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in kidney (RPKM 14.4), colon (RPKM 14.1) and 25 other tissues See more Orthologs mouse all
TIMM17A, Official Symbol TIMM17Aprovided by HGNC Official Full Name translocase of inner mitochondrial membrane 17Aprovided by HGNC Primary source HGNC:HGNC:17315 See related Ensembl:ENSG00000134375 MIM:605057; AllianceGenome:HGNC:17315 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 TIM17; TIM17A Summary Predicted to contribute to protein transmembrane transporter activity. Predicted to be involved in protein import into mitochondrial matrix. Located in mitochondrial inner membrane and nucleoplasm. Is integral component of mitochondrial inner membrane. Part of TIM23 mitochondrial import inner membrane translocase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 27.6), heart (RPKM 27.5) and 25 other tissues See more Orthologs mouse all
TIMM17B, Official Symbol TIMM17Bprovided by HGNC Official Full Name translocase of inner mitochondrial membrane 17Bprovided by HGNC Primary source HGNC:HGNC:17310 See related Ensembl:ENSG00000126768 MIM:300249; AllianceGenome:HGNC:17310 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 JM3; TIM17B; DXS9822 Summary This gene encodes a multipass transmembrane protein that forms an integral component of the mitochondrial translocase TIM23 complex. This complex facilitates the transport of mitochondrial proteins from the cytosol across the mitochondrial inner membrane and into the mitochondrion. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in heart (RPKM 15.4), prostate (RPKM 13.6) and 25 other tissues See more Orthologs mouse all
TIMM21, Official Symbol TIMM21provided by HGNC Official Full Name translocase of inner mitochondrial membrane 21provided by HGNC Primary source HGNC:HGNC:25010 See related Ensembl:ENSG00000075336 MIM:615180; AllianceGenome:HGNC:25010 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 TIM21; HSPC154; C18orf55 Summary Involved in mitochondrial cytochrome c oxidase assembly; mitochondrial respiratory chain complex I assembly; and protein import into mitochondrial matrix. Part of TIM23 mitochondrial import inner membrane translocase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 23.3), kidney (RPKM 13.3) and 25 other tissues See more Orthologs mouse all
TIMM22, Official Symbol TIMM22provided by HGNC Official Full Name translocase of inner mitochondrial membrane 22provided by HGNC Primary source HGNC:HGNC:17317 See related Ensembl:ENSG00000177370 MIM:607251; AllianceGenome:HGNC:17317 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 TEX4; TIM22; COXPD43 Summary Multipass transmembrane proteins are brought into mitochondria and inserted into the mitochondrial inner membrane by way of the TIM22 complex. This complex has six subunits and is a twin-pore translocase. The protein encoded by this gene is a subunit of TIM22 and represents the voltage-activated and signal-gated channel. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in heart (RPKM 10.4), placenta (RPKM 10.3) and 25 other tissues See more Orthologs mouse all
TIMM23, Official Symbol TIMM23provided by HGNC Official Full Name translocase of inner mitochondrial membrane 23provided by HGNC Primary source HGNC:HGNC:17312 See related Ensembl:ENSG00000265354 MIM:605034; AllianceGenome:HGNC:17312 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 TIM23 Summary The protein encoded by this gene is part of a complex located in the inner mitochondrial membrane that mediates the transport of transit peptide-containing proteins across the membrane. Multiple transcript variants, one protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jul 2012] Expression Ubiquitous expression in testis (RPKM 39.1), heart (RPKM 22.4) and 25 other tissues See more Orthologs all
TIMM23B, Official Symbol TIMM23Bprovided by HGNC Official Full Name translocase of inner mitochondrial membrane 23 homolog Bprovided by HGNC Primary source HGNC:HGNC:23581 See related Ensembl:ENSG00000204152 AllianceGenome:HGNC:23581 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 protein transmembrane transporter activity. Predicted to be involved in protein import into mitochondrial matrix. Predicted to be part of TIM23 mitochondrial import inner membrane translocase complex. Predicted to be integral component of mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 3.8), bone marrow (RPKM 3.7) and 25 other tissues See more Orthologs all
TIMM23B-AGAP6, Official Symbol TIMM23B-AGAP6provided by HGNC Official Full Name TIMM23B-AGAP6 readthrough (NMD candidate)provided by HGNC Primary source HGNC:HGNC:45009 See related Ensembl:ENSG00000178440 AllianceGenome:HGNC:45009 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 LINC00843 Summary This locus represents naturally-occurring readthrough transcription between the adjacent TIMM23B (translocase of inner mitochondrial membrane 23 homolog B) and AGAP6 (ArfGAP with GTPase domain, ankyrin repeat and PH domain 6) genes. Readthrough transcripts contain portions of the coding sequence for both genes and are predicted to be candidates for nonsense-mediated decay (NMD). [provided by RefSeq, Sep 2018]
TIMM29, Official Symbol TIMM29provided by HGNC Official Full Name translocase of inner mitochondrial membrane 29provided by HGNC Primary source HGNC:HGNC:25152 See related Ensembl:ENSG00000142444 MIM:617380; AllianceGenome:HGNC:25152 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 TIM29; C19orf52 Summary Enables protein transporter activity. Involved in protein insertion into mitochondrial inner membrane. Located in mitochondrial inner membrane and mitochondrial intermembrane space. Part of TIM22 mitochondrial import inner membrane insertion complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 4.3), testis (RPKM 4.3) and 25 other tissues See more Orthologs mouse all
TIMM44, Official Symbol TIMM44provided by HGNC Official Full Name translocase of inner mitochondrial membrane 44provided by HGNC Primary source HGNC:HGNC:17316 See related Ensembl:ENSG00000104980 MIM:605058; AllianceGenome:HGNC:17316 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 TIM44 Summary This gene encodes a peripheral membrane protein associated with the mitochondrial inner membrane translocase, which functions in the import of proteins across the mitochondrial inner membrane and into the mitochondrial matrix. The encoded protein mediates binding of mitochondrial heat shock protein 70 to the translocase of inner mitochondrial membrane 23 (TIM23) complex. Expression of this gene is upregulated in kidney in a mouse model of diabetes. A mutation in this gene is associated with familial oncocytic thyroid carcinoma. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in heart (RPKM 13.8), thyroid (RPKM 10.9) and 25 other tissues See more Orthologs mouse all
TIMM50, Official Symbol TIMM50provided by HGNC Official Full Name translocase of inner mitochondrial membrane 50provided by HGNC Primary source HGNC:HGNC:23656 See related Ensembl:ENSG00000105197 MIM:607381; AllianceGenome:HGNC:23656 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 MGCA9; TIM50; TIM50L Summary This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the mitochondrial inner membrane and matrix. This protein may also play a role in maintaining the membrane permeability barrier, and knockdown of this gene in human cells results in the release of cytochrome c and apoptosis. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in testis (RPKM 9.8), thyroid (RPKM 6.2) and 25 other tissues See more Orthologs mouse all
TIMM8A, Official Symbol TIMM8Aprovided by HGNC Official Full Name translocase of inner mitochondrial membrane 8Aprovided by HGNC Primary source HGNC:HGNC:11817 See related Ensembl:ENSG00000126953 MIM:300356; AllianceGenome:HGNC:11817 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 DDP; MTS; DDP1; DFN1; TIM8 Summary This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009] Expression Ubiquitous expression in liver (RPKM 4.3), kidney (RPKM 2.9) and 25 other tissues See more Orthologs mouse all
TIMM8AP1, Official Symbol TIMM8AP1provided by HGNC Official Full Name translocase of inner mitochondrial membrane 8A pseudogene 1provided by HGNC Primary source HGNC:HGNC:17802 See related AllianceGenome:HGNC:17802 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DDPP; TIMM8AP
TIMM8B, Official Symbol TIMM8Bprovided by HGNC Official Full Name translocase of inner mitochondrial membrane 8 homolog Bprovided by HGNC Primary source HGNC:HGNC:11818 See related Ensembl:ENSG00000150779 MIM:606659; AllianceGenome:HGNC:11818 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 DDP2; TIM8B Summary This gene encodes a member of a well-conserved family of proteins with similarity to yeast Tim mitochondrial import proteins. This gene is encoded by a nuclear gene and is transported into the intermembrane space of the mitochondrion. When formed into complexes, these proteins guide membrane-spanning proteins across the mitochondrial intermembrane space before they are added into the mitochondrial inner membrane. This gene is adjacent to succinate dehydrogenase, subunit D (SDHD), in which mutations have been found in affected members of families with hereditary paraganglioma.[provided by RefSeq, Aug 2009] Expression Ubiquitous expression in heart (RPKM 16.7), colon (RPKM 15.7) and 25 other tissues See more Orthologs mouse all
TIMM8BP2, Official Symbol TIMM8BP2provided by HGNC Official Full Name translocase of inner mitochondrial membrane 8B pseudogene 2provided by HGNC Primary source HGNC:HGNC:39212 See related AllianceGenome:HGNC:39212 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TIMM9, Official Symbol TIMM9provided by HGNC Official Full Name translocase of inner mitochondrial membrane 9provided by HGNC Primary source HGNC:HGNC:11819 See related Ensembl:ENSG00000100575 MIM:607384; AllianceGenome:HGNC:11819 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 TIM9; TIM9A Summary TIMM9 belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004] Expression Ubiquitous expression in thyroid (RPKM 11.9), ovary (RPKM 11.7) and 25 other tissues See more Orthologs mouse all
TIMM9P2, Official Symbol TIMM9P2provided by HGNC Official Full Name TIMM9 pseudogene 2provided by HGNC Primary source HGNC:HGNC:39929 See related AllianceGenome:HGNC:39929 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TIMM9P3, Official Symbol TIMM9P3provided by HGNC Official Full Name TIMM9 pseudogene 3provided by HGNC Primary source HGNC:HGNC:39930 See related AllianceGenome:HGNC:39930 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
TIMMDC1, Official Symbol TIMMDC1provided by HGNC Official Full Name translocase of inner mitochondrial membrane domain containing 1provided by HGNC Primary source HGNC:HGNC:1321 See related Ensembl:ENSG00000113845 MIM:615534; AllianceGenome:HGNC:1321 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 C3orf1; MC1DN31 Summary Located in mitochondrion and nucleoplasm. Implicated in nuclear type mitochondrial complex I deficiency 31. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 43.9), thyroid (RPKM 31.3) and 25 other tissues See more Orthologs mouse all
TIMP1, Official Symbol TIMP1provided by HGNC Official Full Name TIMP metallopeptidase inhibitor 1provided by HGNC Primary source HGNC:HGNC:11820 See related Ensembl:ENSG00000102265 MIM:305370; AllianceGenome:HGNC:11820 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 EPA; EPO; HCI; CLGI; TIMP; TIMP-1 Summary This gene belongs to the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases (MMPs), a group of peptidases involved in degradation of the extracellular matrix. In addition to its inhibitory role against most of the known MMPs, the encoded protein is able to promote cell proliferation in a wide range of cell types, and may also have an anti-apoptotic function. Transcription of this gene is highly inducible in response to many cytokines and hormones. In addition, the expression from some but not all inactive X chromosomes suggests that this gene inactivation is polymorphic in human females. This gene is located within intron 6 of the synapsin I gene and is transcribed in the opposite direction. [provided by RefSeq, Jul 2008] Expression Broad expression in appendix (RPKM 344.6), gall bladder (RPKM 211.2) and 15 other tissues See more Orthologs mouse all
TIMP2, Official Symbol TIMP2provided by HGNC Official Full Name TIMP metallopeptidase inhibitor 2provided by HGNC Primary source HGNC:HGNC:11821 See related Ensembl:ENSG00000035862 MIM:188825; AllianceGenome:HGNC:11821 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 DDC8; CSC-21K Summary This gene is a member of the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. In addition to an inhibitory role against metalloproteinases, the encoded protein has a unique role among TIMP family members in its ability to directly suppress the proliferation of endothelial cells. As a result, the encoded protein may be critical to the maintenance of tissue homeostasis by suppressing the proliferation of quiescent tissues in response to angiogenic factors, and by inhibiting protease activity in tissues undergoing remodelling of the extracellular matrix. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 542.4), endometrium (RPKM 302.2) and 21 other tissues See more Orthologs mouse all
TIMP3, Official Symbol TIMP3provided by HGNC Official Full Name TIMP metallopeptidase inhibitor 3provided by HGNC Primary source HGNC:HGNC:11822 See related Ensembl:ENSG00000100234 MIM:188826; AllianceGenome:HGNC:11822 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 SFD; K222; K222TA2; HSMRK222 Summary This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 485.4), fat (RPKM 420.5) and 18 other tissues See more Orthologs mouse all
TIMP4, Official Symbol TIMP4provided by HGNC Official Full Name TIMP metallopeptidase inhibitor 4provided by HGNC Primary source HGNC:HGNC:11823 See related Ensembl:ENSG00000157150 MIM:601915; AllianceGenome:HGNC:11823 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 TIMP-4 Summary This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. The secreted, netrin domain-containing protein encoded by this gene is involved in regulation of platelet aggregation and recruitment and may play role in hormonal regulation and endometrial tissue remodeling. [provided by RefSeq, Jul 2008] Expression Biased expression in fat (RPKM 76.2) and brain (RPKM 10.2) See more Orthologs mouse all
TINAG, Official Symbol TINAGprovided by HGNC Official Full Name tubulointerstitial nephritis antigenprovided by HGNC Primary source HGNC:HGNC:14599 See related Ensembl:ENSG00000137251 MIM:606749; AllianceGenome:HGNC:14599 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 TIN-AG Summary This gene encodes a glycoprotein that is restricted within the kidney to the basement membranes underlying the epithelium of Bowman's capsule and proximal and distal tubules. Autoantibodies against this protein are found in sera of patients with tubulointerstital nephritis, membranous nephropathy and anti-glomerular basement membrane nephritis. Ontogeny studies suggest that the expression of this antigen is developmentally regulated in a precise spatial and temporal pattern throughout nephrogenesis. [provided by RefSeq, Nov 2011] Expression Biased expression in kidney (RPKM 36.8), colon (RPKM 4.4) and 2 other tissues See more Orthologs mouse all
TINAGL1, Official Symbol TINAGL1provided by HGNC Official Full Name tubulointerstitial nephritis antigen like 1provided by HGNC Primary source HGNC:HGNC:19168 See related Ensembl:ENSG00000142910 MIM:616064; AllianceGenome:HGNC:19168 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 ARG1; LCN7; LIECG3; TINAGRP Summary The protein encoded by this gene is similar in sequence to tubulointerstitial nephritis antigen, a secreted glycoprotein that is recognized by antibodies in some types of immune-related tubulointerstitial nephritis. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] Expression Broad expression in placenta (RPKM 120.0), fat (RPKM 61.8) and 16 other tissues See more Orthologs mouse all
TINCR, Official Symbol TINCRprovided by HGNC Official Full Name TINCR ubiquitin domain containingprovided by HGNC Primary source HGNC:HGNC:14607 See related Ensembl:ENSG00000223573 MIM:615241; AllianceGenome:HGNC:14607 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 TUBL; PLAC2; LINC00036; NCRNA00036; onco-lncRNA-16 Summary This gene produces a spliced long non-coding RNA that binds RNAs. This transcript interacts with staufen-1 protein to regulate the stability of mRNAs for genes involved in the differentiation of epidermal tissue. Variation in this gene may be associated with cancer progression. [provided by RefSeq, Aug 2017] Expression Biased expression in skin (RPKM 41.2), placenta (RPKM 9.2) and 1 other tissue See more Orthologs mouse all
TINF2, Official Symbol TINF2provided by HGNC Official Full Name TERF1 interacting nuclear factor 2provided by HGNC Primary source HGNC:HGNC:11824 See related Ensembl:ENSG00000092330 MIM:604319; AllianceGenome:HGNC:11824 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 TIN2; DKCA3 Summary This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010] Expression Ubiquitous expression in lymph node (RPKM 21.4), adrenal (RPKM 21.1) and 25 other tissues See more Orthologs mouse all
TIPARP, Official Symbol TIPARPprovided by HGNC Official Full Name TCDD inducible poly(ADP-ribose) polymeraseprovided by HGNC Primary source HGNC:HGNC:23696 See related Ensembl:ENSG00000163659 MIM:612480; AllianceGenome:HGNC:23696 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 PARP7; ARTD14; pART14 Summary This gene encodes a member of the poly(ADP-ribose) polymerase superfamily. Studies of the mouse ortholog have shown that the encoded protein catalyzes histone poly(ADP-ribosyl)ation and may be involved in T-cell function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] Expression Ubiquitous expression in adrenal (RPKM 28.8), esophagus (RPKM 23.5) and 24 other tissues See more Orthologs mouse all
TIPIN, Official Symbol TIPINprovided by HGNC Official Full Name TIMELESS interacting proteinprovided by HGNC Primary source HGNC:HGNC:30750 See related Ensembl:ENSG00000075131 MIM:610716; AllianceGenome:HGNC:30750 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene is part of the replisome complex, a group of proteins that support DNA replication. It binds TIM, which is involved in circadian rhythm regulation, and aids in protecting cells against DNA damage and stress. Two pseudogenes and two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] Expression Broad expression in testis (RPKM 3.8), lymph node (RPKM 1.8) and 24 other tissues See more Orthologs mouse all
TIPRL, Official Symbol TIPRLprovided by HGNC Official Full Name TOR signaling pathway regulatorprovided by HGNC Primary source HGNC:HGNC:30231 See related Ensembl:ENSG00000143155 MIM:611807; AllianceGenome:HGNC:30231 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 TIP; TIP41; TIPRL1 Summary TIPRL is an inhibitory regulator of protein phosphatase-2A (PP2A) (see PPP2CA; MIM 176915), PP4 (see PPP4C; MIM 602035), and PP6 (see PPP6C; MIM 612725) (McConnell et al., 2007 [PubMed 17384681]).[supplied by OMIM, Nov 2010] Expression Ubiquitous expression in endometrium (RPKM 11.7), brain (RPKM 11.6) and 25 other tissues See more Orthologs mouse all
TIRAP, Official Symbol TIRAPprovided by HGNC Official Full Name TIR domain containing adaptor proteinprovided by HGNC Primary source HGNC:HGNC:17192 See related Ensembl:ENSG00000150455 MIM:606252; AllianceGenome:HGNC:17192 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 Mal; wyatt; BACTS1; MyD88-2 Summary The innate immune system recognizes microbial pathogens through Toll-like receptors (TLRs), which identify pathogen-associated molecular patterns. Different TLRs recognize different pathogen-associated molecular patterns and all TLRs have a Toll-interleukin 1 receptor (TIR) domain, which is responsible for signal transduction. The protein encoded by this gene is a TIR adaptor protein involved in the TLR4 signaling pathway of the immune system. It activates NF-kappa-B, MAPK1, MAPK3 and JNK, which then results in cytokine secretion and the inflammatory response. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] Annotation information Note: MAL (Gene ID: 4118), TIRAP (Gene ID: 114609), and MKL1 (Gene ID: 57591) share the MAL symbol/alias in common. MAL is a widely used alternative name for TIR domain containing adaptor protein (TIRAP) and megakaryoblastic leukemia (translocation) 1 (MKL1). [23 May 2018] Expression Ubiquitous expression in duodenum (RPKM 2.7), ovary (RPKM 2.6) and 25 other tissues See more Orthologs mouse all