YARS2 (tyrosyl-tRNA synthetase 2)

2014-11-01  

Identity

HGNC
LOCATION
12p11.21
LOCUSID
ALIAS
CGI-04,MLASA2,MT-TYRRS,TYRRS
FUSION GENES

Other Information

Locus ID:

NCBI: 51067
MIM: 610957
HGNC: 24249
Ensembl: ENSG00000139131

Variants:

dbSNP: 51067
ClinVar: 51067
TCGA: ENSG00000139131
COSMIC: YARS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139131ENST00000324868Q9Y2Z4
ENSG00000139131ENST00000548490H0YHS6

Expression (GTEx)

0
5
10
15
20
25
30

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
205982742010Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.81
157799072005Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS.45
266473102016The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.27
225049452012A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.25
179979752007Crystal structure of human mitochondrial tyrosyl-tRNA synthetase reveals common and idiosyncratic features.24
243446872013Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.18
176729182007Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.17
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
158408102005Human mitochondrial TyrRS disobeys the tyrosine identity rules.15
283950302017Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.11

Citation

Dessen P

YARS2 (tyrosyl-tRNA synthetase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75803/yars2