EARS2

This gene encodes a 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 glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]

Description

Glutamyl-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

16 (23520754 - 23557731)

Ensembl ID

ENSG00000103356  (ver. 103.38)

Orthologs

Mouse Ears2: ENSMUSG00000030871

UniProt

Q5JPH6

neXtProt

NX_Q5JPH6

Human splice variants
Mouse splice variants

Protein structure