CARS2

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]

Description

Cysteinyl-tRNA synthetase 2, mitochondrial

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Mitochondria

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

13 (110641412 - 110713603)

Ensembl ID

ENSG00000134905  (ver. 103.38)

Orthologs

Mouse Cars2: ENSMUSG00000056228

UniProt

Q9HA77

neXtProt

NX_Q9HA77

Human splice variants
Mouse splice variants

Protein structure