TARS2 (threonyl-tRNA synthetase 2, mitochondrial)

2014-11-01  

Identity

HGNC
LOCATION
1q21.2
LOCUSID
ALIAS
COXPD21,TARSL1,thrRS
FUSION GENES

Other Information

Locus ID:

NCBI: 80222
MIM: 612805
HGNC: 30740
Ensembl: ENSG00000143374

Variants:

dbSNP: 80222
ClinVar: 80222
TCGA: ENSG00000143374
COSMIC: TARS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143374ENST00000369051Q5T5E9
ENSG00000143374ENST00000369054Q9BW92
ENSG00000143374ENST00000369064Q9BW92
ENSG00000143374ENST00000438568F6S7Q7
ENSG00000143374ENST00000467982U3KQ50
ENSG00000143374ENST00000606933U3KQG0

Expression (GTEx)

0
10
20
30
40
50
60

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
248274212014VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.41
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
268113362016A Human Disease-causing Point Mutation in Mitochondrial Threonyl-tRNA Synthetase Induces Both Structural and Functional Defects.12
192091882009Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study.4

Citation

Dessen P

TARS2 (threonyl-tRNA synthetase 2, mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74482/tars2