Identity
HGNC
LOCATION
1q21.2
LOCUSID
ALIAS
COXPD21,TARSL1,thrRS
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: 80222
MIM: 612805
HGNC: 30740
Ensembl: ENSG00000143374
Variants:
dbSNP: 80222
ClinVar: 80222
TCGA: ENSG00000143374
COSMIC: TARS2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37454282 | 2023 | Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder. | 1 |
| 37454282 | 2023 | Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder. | 1 |
| 33340489 | 2021 | Mitochondrial Threonyl-tRNA Synthetase TARS2 Is Required for Threonine-Sensitive mTORC1 Activation. | 19 |
| 33340489 | 2021 | Mitochondrial Threonyl-tRNA Synthetase TARS2 Is Required for Threonine-Sensitive mTORC1 Activation. | 19 |
| 33153448 | 2020 | Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report. | 3 |
| 33153448 | 2020 | Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report. | 3 |
| 26811336 | 2016 | A Human Disease-causing Point Mutation in Mitochondrial Threonyl-tRNA Synthetase Induces Both Structural and Functional Defects. | 28 |
| 26811336 | 2016 | A Human Disease-causing Point Mutation in Mitochondrial Threonyl-tRNA Synthetase Induces Both Structural and Functional Defects. | 28 |
| 24827421 | 2014 | VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. | 62 |
| 24827421 | 2014 | VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. | 62 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 19209188 | 2009 | Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study. | 5 |
| 19209188 | 2009 | Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study. | 5 |
Citation
Dessen P
TARS2 (threonyl-tRNA synthetase 2, mitochondrial)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74482/tars2-(threonyl-trna-synthetase-2-mitochondrial)
