This gene encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014].
Rorbach J, Yusoff AA, Tuppen H, Abg-Kamaludin DP, Chrzanowska-Lightowlers ZM, Taylor RW, Turnbull DM, McFarland R, Lightowlers RN (May 2008). "Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation". Nucleic Acids Res. 36 (9): 3065–74. doi:10.1093/nar/gkn147. PMC2396425. PMID 18400783.
Barcellos LF, May SL, Ramsay PP, Quach HL, Lane JA, Nititham J, Noble JA, Taylor KE, Quach DL, Chung SA, Kelly JA, Moser KL, Behrens TW, Seldin MF, Thomson G, Harley JB, Gaffney PM, Criswell LA (October 2009). "High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions". PLOS Genet. 5 (10): e1000696. doi:10.1371/journal.pgen.1000696. PMC2758598. PMID 19851445.
Chae YS, Lee SJ, Moon JH, Kang BW, Kim JG, Sohn SK, Jung JH, Park HY, Park JY, Kim HJ, Lee SW (December 2011). "VARS2 V552V variant as prognostic marker in patients with early breast cancer". Med. Oncol. 28 (4): 1273–80. doi:10.1007/s12032-010-9574-4. PMID 20503108. S2CID 27261107.
Chae YS, Lee SJ, Moon JH, Kang BW, Kim JG, Sohn SK, Jung JH, Park HY, Park JY, Kim HJ, Lee SW (December 2011). "VARS2 V552V variant as prognostic marker in patients with early breast cancer". Med. Oncol. 28 (4): 1273–80. doi:10.1007/s12032-010-9574-4. PMID 20503108. S2CID 27261107.
vars2, valyl, trna, synthetase, mitochondrial, protein, that, humans, encoded, gene, identifiersaliases, coxpd20, valrs, varsl, valyl, trna, synthetase, mitochondrialexternal, idsomim, 612802, 1916165, homologene, 57502, genecards, gene, location, human, chrom. Valyl tRNA synthetase 2 mitochondrial is a protein that in humans is encoded by the VARS2 gene 5 VARS2IdentifiersAliasesVARS2 COXPD20 VALRS VARS2L VARSL valyl tRNA synthetase 2 mitochondrialExternal IDsOMIM 612802 MGI 1916165 HomoloGene 57502 GeneCards VARS2Gene location Human Chr Chromosome 6 human 1 Band6p21 33Start30 914 205 bp 1 End30 926 459 bp 1 Gene location Mouse Chr Chromosome 17 mouse 2 Band17 17 B1Start35 966 526 bp 2 End35 978 484 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inganglionic eminenceright lobe of liversural nervecaudate nucleusnucleus accumbensputamenamygdalapituitary glandanterior pituitaryhypothalamusTop expressed inepithelium of stomachthymushandsecondary oocytesuperior frontal gyrusyolk sacproximal tubulelipesophaguslensMore reference expression dataBioGPSn aGene ontologyMolecular functionaminoacyl tRNA ligase activity nucleotide binding valine tRNA ligase activity ligase activity protein binding ATP binding aminoacyl tRNA editing activityCellular componentmitochondrion cytosolBiological processprotein biosynthesis tRNA aminoacylation for protein translation valyl tRNA aminoacylation aminoacyl tRNA metabolism involved in translational fidelitySources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez5717668915EnsemblENSG00000137411ENSG00000206476ENSG00000234032ENSG00000230985ENSG00000236178ENSG00000223494ENSMUSG00000038838UniProtQ5ST30Q3U2A8RefSeq mRNA NM 020442NM 001167733NM 001167734NM 175137RefSeq protein NP 001161205NP 001161206NP 065175NP 780346Location UCSC Chr 6 30 91 30 93 MbChr 17 35 97 35 98 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseFunction editThis gene encodes a mitochondrial aminoacyl tRNA synthetase which catalyzes the attachment of valine to tRNA Val for mitochondrial translation Mutations in this gene cause combined oxidative phosphorylation deficiency 20 and are also associated with early onset mitochondrial encephalopathies Alternative splicing of this gene results in multiple transcript variants provided by RefSeq Aug 2014 References edit a b c ENSG00000206476 ENSG00000234032 ENSG00000230985 ENSG00000236178 ENSG00000223494 GRCh38 Ensembl release 89 ENSG00000137411 ENSG00000206476 ENSG00000234032 ENSG00000230985 ENSG00000236178 ENSG00000223494 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000038838 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Entrez Gene Valyl tRNA synthetase 2 mitochondrial Retrieved 2018 03 21 Further reading editRorbach J Yusoff AA Tuppen H Abg Kamaludin DP Chrzanowska Lightowlers ZM Taylor RW Turnbull DM McFarland R Lightowlers RN May 2008 Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt tRNAVal carrying the pathogenic C25U mutation Nucleic Acids Res 36 9 3065 74 doi 10 1093 nar gkn147 PMC 2396425 PMID 18400783 Barcellos LF May SL Ramsay PP Quach HL Lane JA Nititham J Noble JA Taylor KE Quach DL Chung SA Kelly JA Moser KL Behrens TW Seldin MF Thomson G Harley JB Gaffney PM Criswell LA October 2009 High density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions PLOS Genet 5 10 e1000696 doi 10 1371 journal pgen 1000696 PMC 2758598 PMID 19851445 Chae YS Lee SJ Moon JH Kang BW Kim JG Sohn SK Jung JH Park HY Park JY Kim HJ Lee SW December 2011 VARS2 V552V variant as prognostic marker in patients with early breast cancer Med Oncol 28 4 1273 80 doi 10 1007 s12032 010 9574 4 PMID 20503108 S2CID 27261107 Chae YS Lee SJ Moon JH Kang BW Kim JG Sohn SK Jung JH Park HY Park JY Kim HJ Lee SW December 2011 VARS2 V552V variant as prognostic marker in patients with early breast cancer Med Oncol 28 4 1273 80 doi 10 1007 s12032 010 9574 4 PMID 20503108 S2CID 27261107 Hendrickson SL Lautenberger JA Chinn LW Malasky M Sezgin E Kingsley LA Goedert JJ Kirk GD Gomperts ED Buchbinder SP Troyer JL O Brien SJ September 2010 Genetic variants in nuclear encoded mitochondrial genes influence AIDS progression PLOS ONE 5 9 e12862 Bibcode 2010PLoSO 512862H doi 10 1371 journal pone 0012862 PMC 2943476 PMID 20877624 This article incorporates text from the United States National Library of Medicine which is in the public domain nbsp This article on a gene on human chromosome 6 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title VARS2 amp oldid 1187554929, wikipedia, wiki, book, books, library,
