VARS2 (valyl-tRNA synthetase 2, mitochondrial)

2005-11-01  

Identity

HGNC
VARS2
LOCATION
6p21.33
LOCUSID
57176
ALIAS
COXPD20,VALRS,VARS2L,VARSL
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57176
MIM: 612802
HGNC: 21642
Ensembl: ENSG00000137411

Variants:

dbSNP: 57176
ClinVar: 57176
TCGA: ENSG00000137411
COSMIC: VARS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137411ENST00000321897Q5ST30
ENSG00000137411ENST00000421263A2ABL6
ENSG00000137411ENST00000428017B7ZCJ6
ENSG00000137411ENST00000541562Q5ST30
ENSG00000137411ENST00000541562A0A1U9X9B3
ENSG00000137411ENST00000625423Q5ST30

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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
parathyroid 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
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
184007832008Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation.29
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
293145482018Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.7
291376502017Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.6
254042432015Association of VARS2-SFTA2 polymorphisms with the risk of chronic hepatitis B in a Korean population.5
205031082011VARS2 V552V variant as prognostic marker in patients with early breast cancer.2
205031082011VARS2 V552V variant as prognostic marker in patients with early breast cancer.2
304587192018A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family.2
310643262019VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype.0

Citation

Dessen P

VARS2 (valyl-tRNA synthetase 2, mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2005-11-01

Online version: http://atlasgeneticsoncology.org/gene/43073/vars2