full name
phenylalanyl-tRNA synthetase 2, mitochondrial

synonyms
COXPD14, dJ520B18.2, FARS1, HSPC320, PheRS, FARS2, ENSG00000145982

HGNC
HGNC:21062

Entrez Gene
Gene:10667

ENSEMBL
ENSG00000145982

location
chr: 6
start: 5261251
stop: 5771816
strand: +

OMIM
OMIM:611592: FARS2 (Autosomal recessive inheritance)
OMIM:614946: Combined oxidative phosphorylation deficiency 14
OMIM:617046: Spastic paraplegia 77, autosomal recessive

transcripts
NM_006567.3

pathways
Aminoacyl-tRNA biosynthesis [NCBI:83030] [KEGG:hsa00970] [PUBMED:15314242] [PUBMED:18252769]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Mitochondrial tRNA aminoacylation [NCBI:1269711] [REACTOME:R-HSA-379726] [PUBMED:11121736]
tRNA Aminoacylation [NCBI:1269709] [REACTOME:R-HSA-379724] [PUBMED:16125937] [PUBMED:5324173] [PUBMED:18682559] [PUBMED:764868] [PUBMED:1894595] [PUBMED:5324172] [PUBMED:18767960] [PUBMED:182209]