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)
End	30,926,459 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	35,978,484 bp
RNA expression pattern
	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
	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
	57176
	68915
ENSG00000137411; ENSG00000206476; ENSG00000234032; ENSG00000230985; ENSG00000236178;
	ENSG00000223494
	ENSMUSG00000038838
	Q5ST30
	Q3U2A8
	NM_020442; NM_001167733; NM_001167734
	NM_175137
	NP_001161205; NP_001161206; NP_065175
	NP_780346
	Wikidata
View/Edit Human	View/Edit Mouse

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

^ ^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.

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.

This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] ENSG00000206476, ENSG00000234032, ENSG00000230985, ENSG00000236178, ENSG00000223494 GRCh38: Ensembl release 89: ENSG00000137411, ENSG00000206476, ENSG00000234032, ENSG00000230985, ENSG00000236178, ENSG00000223494 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: Valyl-tRNA synthetase 2, mitochondrial". Retrieved 2018-03-21.

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Function

References

Further reading