Version: 8.0.0Date: Tue Jan 28 2025
Gene
CARS2
- Species
- Homo sapiens
- Symbol
- CARS2
- Name
- cysteinyl-tRNA synthetase 2, mitochondrial
- Synonyms
- COXPD27
- cysRS
- Biotype
- protein coding gene
- Automated Description
- Enables cysteine-tRNA ligase activity. Involved in cysteinyl-tRNA aminoacylation. Located in mitochondrion. Implicated in combined oxidative phosphorylation deficiency 27.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR10890
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
Sequence Feature Viewer
- Genome location
- Chr13:110641410...110713603 - (72.19 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction