Identity
HGNC
LOCATION
6q15
LOCUSID
ALIAS
ArgRS,DALRD2,PCH6,PRO1992,RARSL
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: 57038
MIM: 611524
HGNC: 21406
Ensembl: ENSG00000146282
Variants:
dbSNP: 57038
ClinVar: 57038
TCGA: ENSG00000146282
COSMIC: RARS2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000146282 | ENST00000369536 | Q5T160 |
| ENSG00000146282 | ENST00000451155 | H0Y450 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38009286 | 2024 | Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations. | 1 |
| 38009286 | 2024 | Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations. | 1 |
| 35468344 | 2022 | Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6. | 2 |
| 35468344 | 2022 | Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6. | 2 |
| 32725632 | 2020 | Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late. | 14 |
| 32725632 | 2020 | Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late. | 14 |
| 26970947 | 2016 | RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia. | 13 |
| 27769281 | 2016 | Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum. | 16 |
| 26970947 | 2016 | RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia. | 13 |
| 27769281 | 2016 | Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum. | 16 |
| 25809939 | 2015 | A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. | 18 |
| 25809939 | 2015 | A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. | 18 |
| 22569581 | 2013 | Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. | 41 |
| 22569581 | 2013 | Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. | 41 |
| 22086604 | 2012 | Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. | 24 |
Citation
Dessen P
RARS2 (arginyl-tRNA synthetase 2, mitochondrial)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72491/rars2-(arginyl-trna-synthetase-2-mitochondrial)
