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
357793382022EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer.2
357793382022EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer.2
222779672012Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.201
224925622012Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.104
222779672012Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.201
224925622012Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.104
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
198052822009Biogenesis of glutaminyl-mt tRNAGln in human mitochondria.52
198052822009Biogenesis of glutaminyl-mt tRNAGln in human mitochondria.52

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-(glutamyl-trna-synthetase-2-mitochondrial)