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Genes
EARS2
Gene - EARS2
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:12195810]
[PUBMED:11283349]
[PUBMED:10217486]
[PUBMED:11007789]
[PUBMED:10518530]
[PUBMED:12055304]
[PUBMED:12196148]
[PUBMED:17506685]
[PUBMED:16245042]
[PUBMED:23922391]
[PUBMED:23042036]
[PUBMED:9461500]
tRNA Aminoacylation
[NCBI:1269709]
[REACTOME:R-HSA-379724]
[PUBMED:16125937]
[PUBMED:5324173]
[PUBMED:18682559]
[PUBMED:764868]
[PUBMED:1894595]
[PUBMED:5324172]
[PUBMED:18767960]
[PUBMED:182209]