| VARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | VARS2, COXPD20, VALRS, VARS2L, VARSL, valyl-tRNA synthetase 2, mitochondrial | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 612802 MGI: 1916165 HomoloGene: 57502 GeneCards: VARS2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Valyl-tRNA synthetase 2, mitochondrial is a protein that in humans is encoded by the VARS2 gene. [5]
Function
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].
References
- 1 2 3 ENSG00000206476, ENSG00000234032, ENSG00000230985, ENSG00000236178, ENSG00000223494 GRCh38: Ensembl release 89: ENSG00000137411, ENSG00000206476, ENSG00000234032, ENSG00000230985, ENSG00000236178, ENSG00000223494 - Ensembl, May 2017
- 1 2 3 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
- 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. 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.
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