DARS2 (aspartyl-tRNA synthetase 2, mitochondrial)

2014-08-01  

Identity

HGNC
DARS2
LOCATION
1q25.1
LOCUSID
55157
ALIAS
ASPRS,LBSL,MT-ASPRS,mtAspRS
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383821062024Functional enrichment analysis reveals the involvement of DARS2 in multiple biological pathways and its potential as a therapeutic target in esophageal carcinoma.0
387902442024Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation.0
383821062024Functional enrichment analysis reveals the involvement of DARS2 in multiple biological pathways and its potential as a therapeutic target in esophageal carcinoma.0
387902442024Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation.0
375632242023Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.1
376264192023DARS2 overexpression is associated with PET/CT metabolic parameters and affects glycolytic activity in lung adenocarcinoma.4
379505422023DARS2 promotes the occurrence of lung adenocarcinoma via the ERK/c-Myc signaling pathway.2
375632242023Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.1
376264192023DARS2 overexpression is associated with PET/CT metabolic parameters and affects glycolytic activity in lung adenocarcinoma.4
379505422023DARS2 promotes the occurrence of lung adenocarcinoma via the ERK/c-Myc signaling pathway.2
360855782022High expression of DARS2 indicates poor prognosis in lung adenocarcinoma.7
360855782022High expression of DARS2 indicates poor prognosis in lung adenocarcinoma.7
339721712021Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.12
339721712021Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.12
327667652020DARS2 is indispensable for Purkinje cell survival and protects against cerebellar ataxia.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