FARS2
entrez
10667
canonical
uniprot
O95363
canonical
ensembl
ENSG00000145982
resolver
ensp
ENSP00000274680
resolver
ensp
ENSP00000316335
resolver
ensp
ENSP00000567625
resolver
ensp
ENSP00000567626
resolver
ensp
ENSP00000567627
resolver
ensp
ENSP00000567629
resolver
ensp
ENSP00000567630
resolver
ensp
ENSP00000567631
resolver
ensp
ENSP00000567632
resolver
ensp
ENSP00000567633
resolver
ensp
ENSP00000567634
resolver
ensp
ENSP00000567635
resolver
ensp
ENSP00000567636
resolver
ensp
ENSP00000567638
resolver
ensp
ENSP00000567639
resolver
ensp
ENSP00000567640
resolver
ensp
ENSP00000567641
resolver
ensp
ENSP00000607641
resolver
ensp
ENSP00000607642
resolver
ensp
ENSP00000607643
resolver
ensp
ENSP00000607644
resolver
ensp
ENSP00000624745
resolver
ensp
ENSP00000624746
resolver
ensp
ENSP00000624747
resolver
ensp
ENSP00000624748
resolver
ensp
ENSP00000695566
resolver
ensp
ENSP00000791425
resolver
ensp
ENSP00000792403
resolver
ensp
ENSP00000792404
resolver
ensp
ENSP00000792405
resolver
enst
ENST00000274680
resolver
enst
ENST00000324331
resolver
enst
ENST00000897566
resolver
enst
ENST00000897567
resolver
enst
ENST00000897568
resolver
enst
ENST00000897570
resolver
enst
ENST00000897571
resolver
enst
ENST00000897572
resolver
enst
ENST00000897573
resolver
enst
ENST00000897574
resolver
enst
ENST00000897575
resolver
enst
ENST00000897576
resolver
enst
ENST00000897577
resolver
enst
ENST00000897580
resolver
enst
ENST00000897581
resolver
enst
ENST00000897582
resolver
enst
ENST00000937582
resolver
enst
ENST00000937583
resolver
enst
ENST00000937584
resolver
enst
ENST00000937585
resolver
enst
ENST00000954686
resolver
enst
ENST00000954687
resolver
enst
ENST00000954688
resolver
enst
ENST00000954689
resolver
genesymbol
FARS2
resolver
genesymbol_syn
FARS1
resolver
hgnc
HGNC:21062
resolver
uniprot
B2R664
resolver
uniprot
Q53F66
resolver
uniprot
Q5TCS3
resolver
uniprot
Q6FG29
resolver
uniprot
Q9NPY7
resolver
uniprot
Q9P062
resolver
uniprot_entry
SYFM_HUMAN
resolver
uniprot_sec
B2R664
resolver
uniprot_sec
Q53F66
resolver
uniprot_sec
Q5TCS3
resolver
uniprot_sec
Q6FG29
resolver
uniprot_sec
Q9NPY7
resolver
uniprot_sec
Q9P062
resolver
amino_acid_sequence
MVGSALRRGAHAYVYLVSKASHISRGHQHQAWGSRPPAAECATQRAPGSVVELLGKSYPQDDHSNLTRKVLTRVGRNLHNQQHHPLWLIKERVKEHFYKQYVGRFGTPLFSVYDNLSPVVTTWQNFDSLLIPADHPSRKKGDNYYLNRTHMLRAHTSAHQWDLLHAGLDAFLVVGDVYRRDQIDSQHYPIFHQLEAVRLFSKHELFAGIKDGESLQLFEQSSRSAHKQETHTMEAVKLVEFDLKQTLTRLMAHLFGDELEIRWVDCYFPFTHPSFEMEINFHGEWLEVLGCGVMEQQLVNSAGAQDRIGWAFGLGLERLAMILYDIPDIRLFWCEDERFLKQFCVSNINQKVKFQPLSKYPAVINDISFWLPSENYAENDFYDLVRTIGGDLVEKVDLIDKFVHPKTHKTSHCYRITYRHMERTLSQREVRHIHQALQEAAVQLLGVEGRF
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 14 (COXPD14) [MIM:614946]: A severe multisystemic autosomal recessive disorder characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes. {ECO:0000269|PubMed:22499341, ECO:0000269|PubMed:22833457}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spastic paraplegia 77, autosomal recessive (SPG77) [MIM:617046]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269|PubMed:26553276}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.1.1.20
uniprot
proteins
function
FUNCTION: Is responsible for the charging of tRNA(Phe) with phenylalanine in mitochondrial translation. To a lesser extent, also catalyzes direct attachment of m-Tyr (an oxidized version of Phe) to tRNA(Phe), thereby opening the way for delivery of the misacylated tRNA to the ribosome and incorporation of ROS-damaged amino acid into proteins. {ECO:0000269|PubMed:19549855, ECO:0000269|PubMed:22833457}.
uniprot
proteins
mass_dalton
52357
uniprot
proteins
protein_family
Class-II aminoacyl-tRNA synthetase family
uniprot
proteins
pubmed
10329163
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18611382
uniprot
proteins
pubmed
19549855
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
22499341
uniprot
proteins
pubmed
22833457
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26553276
uniprot
proteins
sequence_length
451
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250|UniProtKB:Q6AYQ3}. Mitochondrion {ECO:0000250|UniProtKB:Q6AYQ3}.
uniprot
proteins