Identity
HGNC
LOCATION
11q14.1
LOCUSID
ALIAS
DFNB94,SLM5,asnRS
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 79731
MIM: 612803
HGNC: 26274
Ensembl: ENSG00000137513
Variants:
dbSNP: 79731
ClinVar: 79731
TCGA: ENSG00000137513
COSMIC: NARS2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38310242 | 2024 | Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review. | 1 |
| 38310242 | 2024 | Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review. | 1 |
| 36252909 | 2022 | Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability. | 3 |
| 36252909 | 2022 | Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability. | 3 |
| 33596490 | 2021 | The phenotypic variability and natural history of NARS2 associated disease. | 9 |
| 33596490 | 2021 | The phenotypic variability and natural history of NARS2 associated disease. | 9 |
| 28822227 | 2018 | Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience. | 4 |
| 30088171 | 2018 | Alzheimer's Disease Risk Variant rs2373115 Regulates GAB2 and NARS2 Expression in Human Brain Tissues. | 15 |
| 28822227 | 2018 | Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience. | 4 |
| 30088171 | 2018 | Alzheimer's Disease Risk Variant rs2373115 Regulates GAB2 and NARS2 Expression in Human Brain Tissues. | 15 |
| 28077841 | 2017 | PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder. | 25 |
| 28077841 | 2017 | PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder. | 25 |
| 25385316 | 2015 | Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2). | 33 |
| 25649651 | 2015 | Genetic Determinants of Survival in Patientswith Alzheimer’s Disease. | 6 |
| 25807530 | 2015 | Mutations 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/nars2-(asparaginyl-trna-synthetase-2-mitochondrial)
