HARS2 (histidyl-tRNA synthetase 2, mitochondrial)

2014-08-01  

Identity

HGNC
HARS2
LOCATION
5q31.3
LOCUSID
23438
ALIAS
HARSL,HARSR,HO3,HisRS,PRLTS2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23438
MIM: 600783
HGNC: 4817
Ensembl: ENSG00000112855

Variants:

dbSNP: 23438
ClinVar: 23438
TCGA: ENSG00000112855
COSMIC: HARS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112855ENST00000230771P49590
ENSG00000112855ENST00000448069B4DQ67
ENSG00000112855ENST00000503873D6RB22
ENSG00000112855ENST00000508522P49590
ENSG00000112855ENST00000509299D6RJE6
ENSG00000112855ENST00000510104D6R9M5
ENSG00000112855ENST00000520095D6R9M5
ENSG00000112855ENST00000642452A0A2R8Y5E8
ENSG00000112855ENST00000642752A0A2R8Y3N3
ENSG00000112855ENST00000642970A0A2R8Y6I1
ENSG00000112855ENST00000643996A0A2R8Y6I1
ENSG00000112855ENST00000645065A0A2R8Y5P7
ENSG00000112855ENST00000645749P49590
ENSG00000112855ENST00000646468A0A2R8Y5P7
ENSG00000112855ENST00000647484A0A2R8Y4X6

Expression (GTEx)

0
10
20
30
40
50
60
70
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
214643062011Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.95
203810702010Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia.22
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17

Citation

Dessen P

HARS2 (histidyl-tRNA synthetase 2, mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54352/hars2