DARS2 (aspartyl-tRNA synthetase 2, mitochondrial)

2014-08-01  

Identity

HGNC
LOCATION
1q25.1
LOCUSID
ALIAS
ASPRS,LBSL,MT-ASPRS,mtAspRS
FUSION GENES

Other Information

Locus ID:

NCBI: 55157
MIM: 610956
HGNC: 25538
Ensembl: ENSG00000117593

Variants:

dbSNP: 55157
ClinVar: 55157
TCGA: ENSG00000117593
COSMIC: DARS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117593ENST00000471476A0A3B3IT89
ENSG00000117593ENST00000647645A0A3B3ISK7
ENSG00000117593ENST00000647730A0A3B3IT89
ENSG00000117593ENST00000647788A0A3B3IT89
ENSG00000117593ENST00000648271A0A3B3IT89
ENSG00000117593ENST00000648458A0A3B3ITS3
ENSG00000117593ENST00000648807A0A3B3IT01
ENSG00000117593ENST00000648960A0A3B3IS54
ENSG00000117593ENST00000649067A0A3B3IS01
ENSG00000117593ENST00000649106A0A3B3ITK9
ENSG00000117593ENST00000649689Q6PI48
ENSG00000117593ENST00000649689A0A024R8Z9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

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
173846402007Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.131
157799072005Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS.45
245666712014Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
220232892012Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA.17
195923912010DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.16
255272642015DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder.14
217499912011Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.13
208784202011Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations.10
217927302012Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene.10

Citation

Dessen P

DARS2 (aspartyl-tRNA synthetase 2, mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54247/dars2