VARS2
Identifiers
AliasesVARS2, COXPD20, VALRS, VARS2L, VARSL, valyl-tRNA synthetase 2, mitochondrial
External IDsOMIM: 612802 MGI: 1916165 HomoloGene: 57502 GeneCards: VARS2
Orthologs
SpeciesHumanMouse
Entrez

57176

68915

Ensembl

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 MbChr 17: 35.97 – 35.98 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. 1 2 3 ENSG00000206476, ENSG00000234032, ENSG00000230985, ENSG00000236178, ENSG00000223494 GRCh38: Ensembl release 89: ENSG00000137411, ENSG00000206476, ENSG00000234032, ENSG00000230985, ENSG00000236178, ENSG00000223494 - Ensembl, May 2017
  2. 1 2 3 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

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


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