Identity
HGNC
LOCATION
12p11.21
LOCUSID
ALIAS
CGI-04,MLASA2,MT-TYRRS,TYRRS
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: 51067
MIM: 610957
HGNC: 24249
Ensembl: ENSG00000139131
Variants:
dbSNP: 51067
ClinVar: 51067
TCGA: ENSG00000139131
COSMIC: YARS2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000139131 | ENST00000324868 | Q9Y2Z4 |
| ENSG00000139131 | ENST00000548490 | H0YHS6 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36611011 | 2023 | Nuclear modifier YARS2 allele correction restored retinal ganglion cells-specific deficiencies in Leber's hereditary optic neuropathy. | 3 |
| 36611011 | 2023 | Nuclear modifier YARS2 allele correction restored retinal ganglion cells-specific deficiencies in Leber's hereditary optic neuropathy. | 3 |
| 36154909 | 2022 | Targeting mitochondrial tyrosyl-tRNA synthetase YARS2 suppresses colorectal cancer progression. | 1 |
| 36154909 | 2022 | Targeting mitochondrial tyrosyl-tRNA synthetase YARS2 suppresses colorectal cancer progression. | 1 |
| 31685661 | 2019 | Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNA(Ser(UCN)) 7511A>G mutation. | 12 |
| 31685661 | 2019 | Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNA(Ser(UCN)) 7511A>G mutation. | 12 |
| 29976739 | 2018 | Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene. | 3 |
| 30026338 | 2018 | The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. | 11 |
| 29976739 | 2018 | Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene. | 3 |
| 30026338 | 2018 | The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. | 11 |
| 28395030 | 2017 | Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy. | 29 |
| 28395030 | 2017 | Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy. | 29 |
| 26647310 | 2016 | The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. | 56 |
| 26647310 | 2016 | The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. | 56 |
| 24344687 | 2013 | Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. | 30 |
Citation
Dessen P
YARS2 (tyrosyl-tRNA synthetase 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/75803/yars2-(tyrosyl-trna-synthetase-2)
