full name
glutamyl-tRNA synthetase 2, mitochondrial

synonyms
COXPD12, MSE1, EARS2, ENSG00000103356

HGNC
HGNC:29419

Entrez Gene
Gene:124454

ENSEMBL
ENSG00000103356

location
chr: 16
start: 23533334
stop: 23568696
strand: -

OMIM
OMIM:612799: EARS2 (Autosomal recessive inheritance)
OMIM:614924: Combined oxidative phosphorylation deficiency 12

transcripts
NR_003501.1
NM_001083614.1

pathways
Aminoacyl-tRNA biosynthesis [NCBI:83030] [KEGG:hsa00970] [PUBMED:15314242] [PUBMED:18252769]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Mitochondrial tRNA aminoacylation [NCBI:1269711] [REACTOME:R-HSA-379726] [PUBMED:11121736]
Porphyrin and chlorophyll metabolism [NCBI:83021] [KEGG:hsa00860] [PUBMED:10217486] [PUBMED:10518530] [PUBMED:11007789] [PUBMED:12196148] [PUBMED:17506685] [PUBMED:23922391] [PUBMED:16245042] [PUBMED:23042036] [PUBMED:9461500] [PUBMED:12195810] [PUBMED:11283349] [PUBMED:12055304]
tRNA Aminoacylation [NCBI:1269709] [REACTOME:R-HSA-379724] [PUBMED:16125937] [PUBMED:5324173] [PUBMED:18682559] [PUBMED:764868] [PUBMED:1894595] [PUBMED:18767960] [PUBMED:5324172] [PUBMED:182209]