NARS2 (asparaginyl-tRNA synthetase 2, mitochondrial)

2014-08-01  

Identity

HGNC
NARS2
LOCATION
11q14.1
LOCUSID
79731
ALIAS
DFNB94,SLM5,asnRS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79731
MIM: 612803
HGNC: 26274
Ensembl: ENSG00000137513

Variants:

dbSNP: 79731
ClinVar: 79731
TCGA: ENSG00000137513
COSMIC: NARS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137513ENST00000281038Q96I59
ENSG00000137513ENST00000525345H0YEL9
ENSG00000137513ENST00000528850Q96I59
ENSG00000137513ENST00000529771H0YE96
ENSG00000137513ENST00000529880E9PRK2

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
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
383102422024Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.1
383102422024Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.1
362529092022Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability.3
362529092022Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability.3
335964902021The phenotypic variability and natural history of NARS2 associated disease.9
335964902021The phenotypic variability and natural history of NARS2 associated disease.9
288222272018Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience.4
300881712018Alzheimer's Disease Risk Variant rs2373115 Regulates GAB2 and NARS2 Expression in Human Brain Tissues.15
288222272018Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience.4
300881712018Alzheimer's Disease Risk Variant rs2373115 Regulates GAB2 and NARS2 Expression in Human Brain Tissues.15
280778412017PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.25
280778412017PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.25
253853162015Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).33
256496512015Genetic Determinants of Survival in Patientswith Alzheimer’s Disease.6
258075302015Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.57

Citation

Dessen P

NARS2 (asparaginyl-tRNA synthetase 2, mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54487/haematological-explorer/tumors-explorer/js/lib/bootstrap.min.js