FARS2

FARS2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3CMQ, 3HFV, 3TEG, 3TUP
Identifiers
Aliases	FARS2, COXPD14, FARS1, HSPC320, PheRS, dJ520B18.2, phenylalanyl-tRNA synthetase 2, mitochondrial, SPG77, mtPheRS
External IDs	OMIM: 611592; MGI: 1917205; HomoloGene: 4788; GeneCards: FARS2; OMA:FARS2 - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	5,829,192 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	36,726,280 bp
RNA expression pattern
	Top expressed in
	triceps brachii muscle; ; endothelial cell; ; glutes; ; gonad; ; skeletal muscle tissue; ; deltoid muscle; ; epithelium of bronchus; ; Skeletal muscle tissue of rectus abdominis; ; nasal epithelium; ; quadriceps femoris muscle;
	Top expressed in
	dentate gyrus of hippocampal formation granule cell; ; spermatocyte; ; zygote; ; spermatid; ; choroid plexus of fourth ventricle; ; interventricular septum; ; secondary oocyte; ; right kidney; ; Rostral migratory stream; ; Epithelium of choroid plexus;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	ligase activity; nucleotide binding; protein binding; aminoacyl-tRNA ligase activity; ATP binding; tRNA binding; phenylalanine-tRNA ligase activity;
Cellular component	cytoplasm; mitochondrial matrix; mitochondrion;
Biological process	tRNA aminoacylation; protein biosynthesis; phenylalanyl-tRNA aminoacylation; tRNA aminoacylation for protein translation; tRNA processing;
	Sources:Amigo / QuickGO
Orthologs
	10667
	69955
	ENSG00000145982
	ENSMUSG00000021420
	O95363
	Q99M01
	NM_006567; NM_001318872
	NM_001039189; NM_024274
NP_001305801; NP_006558; NP_001361804; NP_001361805; NP_001361806;
	NP_001361807; NP_001361808; NP_001362186; NP_001362187; NP_001362188; NP_001362189
	NP_001034278; NP_077236
	Wikidata
View/Edit Human	View/Edit Mouse

Phenylalanyl-tRNA synthetase, mitochondrial (FARS2) is an enzyme that in humans is encoded by the FARS2 gene. This protein encoded by FARS2 localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 14, also known as Alpers encephalopathy, as well as spastic paraplegia 77 and infantile-onset epilepsy and cytochrome c oxidase deficiency.