EARS2, Official Symbol EARS2provided by HGNC Official Full Name glutamyl-tRNA synthetase 2, mitochondrialprovided by HGNC Primary source HGNC:HGNC:29419 See related Ensembl:ENSG00000103356 MIM:612799; AllianceGenome:HGNC:29419 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MSE1; gluRS; COXPD12; mtGlnRS Summary 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] Expression Ubiquitous expression in thyroid (RPKM 6.6), testis (RPKM 6.4) and 25 other tissues See more Orthologs mouse all