VARS2

Valyl-tRNA synthetase 2, mitochondrial is a protein that in humans is encoded by the VARS2 gene. [5]

VARS2
Identifiers
Aliases	VARS2, COXPD20, VALRS, VARS2L, VARSL, valyl-tRNA synthetase 2, mitochondrial
External IDs	OMIM: 612802 MGI: 1916165 HomoloGene: 57502 GeneCards: VARS2
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 35,655,634 bp[2] End 35,667,592 bp[2]
Gene ontology Molecular function • aminoacyl-tRNA ligase activity • nucleotide binding • valine-tRNA ligase activity • ligase activity • GO:0001948 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: 35.66 – 35.67 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.
• 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.
• 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. 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.