VARS2

VARS2
Identifiers
Aliases	VARS2 , COXPD20, VALRS, VARS2L, VARSL, valyl-tRNA synthetase 2, mitochondrial
External IDs	OMIM: 612802; MGI: 1916165; HomoloGene: 57502; GeneCards: VARS2; OMA:VARS2 - orthologs
Gene location (Human) Chr. Chromosome 6 (human) [1] Band 6p21.33 Start 30,914,205 bp [1] End 30,926,459 bp [1]
Gene location (Mouse) Chr. Chromosome 17 (mouse) [2] Band 17|17 B1 Start 35,966,526 bp [2] End 35,978,484 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum ventricular zone ganglionic eminence apex of heart right frontal lobe right lobe of liver sural nerve caudate nucleus nucleus accumbens putamen Top expressed in zygote epithelium of stomach otic vesicle neural layer of retina thymus hand secondary oocyte ventricular zone epiblast superior frontal gyrus More reference expression data BioGPS n/a
Gene ontology Molecular function aminoacyl-tRNA ligase activity nucleotide binding valine-tRNA ligase activity ligase activity protein binding ATP binding aminoacyl-tRNA editing activity Cellular component mitochondrion cytosol Biological process protein biosynthesis tRNA aminoacylation for protein translation valyl-tRNA aminoacylation aminoacyl-tRNA metabolism involved in translational fidelity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57176 68915 Ensembl ENSG00000137411 ENSG00000206476 ENSG00000234032 ENSG00000230985 ENSG00000236178 ENSG00000223494 ENSMUSG00000038838 UniProt Q5ST30 Q3U2A8 RefSeq (mRNA) NM_020442 NM_001167733 NM_001167734 NM_175137 RefSeq (protein) NP_001161205 NP_001161206 NP_065175 NP_780346 Location (UCSC) Chr 6: 30.91 – 30.93 Mb Chr 17: 35.97 – 35.98 Mb PubMed search [3] [4]
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. ENSG00000206476, ENSG00000234032, ENSG00000230985, ENSG00000236178, ENSG00000223494 GRCh38: Ensembl release 89: ENSG00000137411, ENSG00000206476, ENSG00000234032, ENSG00000230985, ENSG00000236178, ENSG00000223494 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000038838 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "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.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.