CARS2
Summary: This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| cysteinyl-tRNA synthetase 2, mitochondrial | MIM:612800 | Ensembl:ENSG00000134905 | HGNC:HGNC:25695 | PA162381083 | 13q34 |
GO terms in CARS2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0004817 | cysteine-tRNA ligase activity |
| MF | IBA | GO:0005524 | ATP binding |
| MF | IEA | GO:0046872 | metal ion binding |
| BP | IBA | GO:0006423 | cysteinyl-tRNA aminoacylation |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | IEA | GO:0005759 | mitochondrial matrix |
Gene expression in normal tissue: CARS2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CARS2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-379724 | tRNA Aminoacylation |
| reactome | R-HSA-379726 | Mitochondrial tRNA aminoacylation |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-72766 | Translation |
| humancyc | TRNA-CHARGING-PWY | tRNA charging |
| kegg | hsa00970 | Aminoacyl-tRNA biosynthesis - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CARS2
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