EARS2 (glutamyl-tRNA synthetase 2, mitochondrial)

2014-11-01  

Identity

HGNC
EARS2
LOCATION
16p12.2
LOCUSID
124454
ALIAS
COXPD12,MSE1,gluRS,mtGlnRS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 124454
MIM: 612799
HGNC: 29419
Ensembl: ENSG00000103356

Variants:

dbSNP: 124454
ClinVar: 124454
TCGA: ENSG00000103356
COSMIC: EARS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103356ENST00000449606Q5JPH6
ENSG00000103356ENST00000562581H3BPY3
ENSG00000103356ENST00000563232Q5JPH6
ENSG00000103356ENST00000563459Q5JPH6
ENSG00000103356ENST00000563499I3L166
ENSG00000103356ENST00000564501H3BTB7
ENSG00000103356ENST00000564668H3BQI0
ENSG00000103356ENST00000564997H3BQP8

Expression (GTEx)

0
5
10
15
20
25
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
Porphyrin and chlorophyll metabolismKEGGko00860
Aminoacyl-tRNA biosynthesisKEGGko00970
Porphyrin and chlorophyll metabolismKEGGhsa00860
Aminoacyl-tRNA biosynthesisKEGGhsa00970
Metabolic pathwaysKEGGhsa01100
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
222779672012Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.141
224925622012Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.81
198052822009Biogenesis of glutaminyl-mt tRNAGln in human mitochondria.34
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17

Citation

Dessen P

EARS2 (glutamyl-tRNA synthetase 2, mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62704/ears2