FARS2 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol FARS2
Gene name phenylalanyl-tRNA synthetase 2, mitochondrial
Chromosome 6
Chromosomal band p25.1
Imprinted Unknown
Genomic reference NC_000006.11
Transcript reference NM_006567.3, XM_005248811.1, XM_005248812.1, XM_005248813.1, XM_005248814.1
Associated with diseases COXPD14
Citation reference(s) -
Curators (0) -
Total number of public variants reported 41
Unique public DNA variants reported 38
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Date created November 07, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 21062
Entrez Gene 10667
PubMed articles FARS2
OMIM - Gene 611592
OMIM - Diseases COXPD14 (Combined oxidative phosphorylation deficiency 14, 614946 (3))
GeneCards FARS2
GeneTests FARS2

Active transcripts




NCBI ID     

NCBI Protein ID     

00000123 6 transcript variant X1 XM_005248811.1 XP_005248868.1 41
00000124 6 phenylalanyl-tRNA synthetase 2, mitochondrial NM_006567.3 NP_006558.1 41
00000127 6 transcript variant X2 XM_005248812.1 XP_005248869.1 41
00000125 6 transcript variant X3 XM_005248813.1 XP_005248870.1 26
00000126 6 transcript variant X4 XM_005248814.1 XP_005248871.1 18

Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium