WARS2 (tryptophanyl tRNA synthetase 2, mitochondrial)

2014-11-01  

Identity

HGNC
LOCATION
1p12
LOCUSID
ALIAS
NEMMLAS,TrpRS,mtTrpRS
FUSION GENES

Other Information

Locus ID:

NCBI: 10352
MIM: 604733
HGNC: 12730
Ensembl: ENSG00000116874

Variants:

dbSNP: 10352
ClinVar: 10352
TCGA: ENSG00000116874
COSMIC: WARS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116874ENST00000235521Q9UGM6
ENSG00000116874ENST00000369426Q9UGM6

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Aminoacyl-tRNA biosynthesisKEGGko00970
Aminoacyl-tRNA biosynthesisKEGGhsa00970
Aminoacyl-tRNA biosynthesis, eukaryotesKEGGhsa_M00359
Aminoacyl-tRNA biosynthesis, eukaryotesKEGGM00359
Gene ExpressionREACTOMER-HSA-74160
tRNA AminoacylationREACTOMER-HSA-379724
Mitochondrial tRNA aminoacylationREACTOMER-HSA-379726

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
209356292010Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.396
280079802017Archaic Adaptive Introgression in TBX15/WARS2.22
282363392017Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.22
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
147578362004A new gamma-interferon-inducible promoter and splice variants of an anti-angiogenic human tRNA synthetase.15
286505812017Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.13
291200652018Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism.10
273899042016Wars2 is a determinant of angiogenesis.8
289055052017Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.8
177260522007Human tryptophanyl-tRNA synthetase is switched to a tRNA-dependent mode for tryptophan activation by mutations at V85 and I311.5

Citation

Dessen P

WARS2 (tryptophanyl tRNA synthetase 2, mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75675/wars2