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: 57505
MIM: 612035
HGNC: 21022
Ensembl: ENSG00000124608
Variants:
dbSNP: 57505
ClinVar: 57505
TCGA: ENSG00000124608
COSMIC: AARS2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000124608 | ENST00000244571 | Q5JTZ9 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37990642 | 2023 | AARS2 as a novel biomarker for prognosis and its molecular characterization in pan-cancer. | 1 |
| 37990642 | 2023 | AARS2 as a novel biomarker for prognosis and its molecular characterization in pan-cancer. | 1 |
| 33972171 | 2021 | Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations. | 12 |
| 33972171 | 2021 | Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations. | 12 |
| 30285085 | 2019 | Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy. | 13 |
| 30706699 | 2019 | AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy. | 15 |
| 31280959 | 2019 | Novel alanyl-tRNA synthetase 2 (AARS2) homozygous mutation in a consanguineous Chinese family with premature ovarian insufficiency. | 6 |
| 30285085 | 2019 | Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy. | 13 |
| 30706699 | 2019 | AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy. | 15 |
| 31280959 | 2019 | Novel alanyl-tRNA synthetase 2 (AARS2) homozygous mutation in a consanguineous Chinese family with premature ovarian insufficiency. | 6 |
| 28820624 | 2018 | Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene. | 11 |
| 29440775 | 2018 | Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease. | 14 |
| 29749055 | 2018 | AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases. | 12 |
| 28820624 | 2018 | Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene. | 11 |
| 29440775 | 2018 | Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease. | 14 |
Citation
Dessen P
AARS2 (alanyl-tRNA synthetase 2, mitochondrial)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60020/aars2-(alanyl-trna-synthetase-2-mitochondrial)
