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Gene id 10667
Gene Summary    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol FARS2   Gene   UCSC   Ensembl
Aliases COXPD14, FARS1, HSPC320, PheRS, SPG77, mtPheRS
Gene name phenylalanyl-tRNA synthetase 2, mitochondrial
Alternate names phenylalanine--tRNA ligase, mitochondrial, dJ236A3.1 (phenylalanine-tRNA synthetase), dJ520B18.2 (FARS1 (phenylalanine-tRNA synthetase)), mitochondrial PHERS, phenylalanine tRNA ligase 2, mitochondrial, phenylalanine translase, phenylalanine-tRNA synthetase 1 (,
Gene location 6p25.1 (5261006: 5771582)     Exons: 19     NC_000006.12
Gene summary(Entrez) This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency
OMIM 611592

Protein Summary
Protein general information O95363  

Name: Phenylalanine tRNA ligase, mitochondrial (EC 6.1.1.20) (Phenylalanyl tRNA synthetase) (PheRS)

Length: 451  Mass: 52357

Sequence MVGSALRRGAHAYVYLVSKASHISRGHQHQAWGSRPPAAECATQRAPGSVVELLGKSYPQDDHSNLTRKVLTRVG
RNLHNQQHHPLWLIKERVKEHFYKQYVGRFGTPLFSVYDNLSPVVTTWQNFDSLLIPADHPSRKKGDNYYLNRTH
MLRAHTSAHQWDLLHAGLDAFLVVGDVYRRDQIDSQHYPIFHQLEAVRLFSKHELFAGIKDGESLQLFEQSSRSA
HKQETHTMEAVKLVEFDLKQTLTRLMAHLFGDELEIRWVDCYFPFTHPSFEMEINFHGEWLEVLGCGVMEQQLVN
SAGAQDRIGWAFGLGLERLAMILYDIPDIRLFWCEDERFLKQFCVSNINQKVKFQPLSKYPAVINDISFWLPSEN
YAENDFYDLVRTIGGDLVEKVDLIDKFVHPKTHKTSHCYRITYRHMERTLSQREVRHIHQALQEAAVQLLGVEGR
F
Structural information
Protein Domains
 (358..45-)
(/note="FDX-ACB-)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU00778"-)
Interpro:  IPR006195  IPR005121  IPR036690  IPR004530  IPR002319  
Prosite:   PS50862 PS51447

PDB:  		 3CMQ 3HFV 3TEG 3TUP 5MGH 5MGU 5MGV 5MGW
PDBsum:   3CMQ 3HFV 3TEG 3TUP 5MGH 5MGU 5MGV 5MGW
MINT:  
STRING:   ENSP00000316335
Other Databases GeneCards:  FARS2  Malacards:  FARS2

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0006432 phenylalanyl-tRNA aminoac
ylation
 IBA biological process
GO:0004826 phenylalanine-tRNA ligase
activity
 IBA molecular function
GO:0005739 mitochondrion
 IBA cellular component
GO:0005737 cytoplasm
 IBA cellular component
GO:0005739 mitochondrion
 ISS cellular component
GO:0000049 tRNA binding
 IEA molecular function
GO:0004812 aminoacyl-tRNA ligase act
ivity
 IEA molecular function
GO:0004826 phenylalanine-tRNA ligase
activity
 IEA molecular function
GO:0006432 phenylalanyl-tRNA aminoac
ylation
 IEA biological process
GO:0043039 tRNA aminoacylation
 IEA biological process
GO:0000166 nucleotide binding
 IEA molecular function
GO:0005524 ATP binding
 IEA molecular function
GO:0005737 cytoplasm
 IEA cellular component
GO:0004812 aminoacyl-tRNA ligase act
ivity
 IEA molecular function
GO:0006412 translation
 IEA biological process
GO:0000166 nucleotide binding
 IEA molecular function
GO:0005739 mitochondrion
 IEA cellular component
GO:0005524 ATP binding
 IEA molecular function
GO:0016874 ligase activity
 IEA molecular function
GO:0004826 phenylalanine-tRNA ligase
activity
 IEA molecular function
GO:0005759 mitochondrial matrix
 TAS cellular component
GO:0004826 phenylalanine-tRNA ligase
activity
 TAS molecular function
GO:0006418 tRNA aminoacylation for p
rotein translation
 TAS biological process
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005739 mitochondrion
 IEA cellular component
GO:0005759 mitochondrial matrix
 IEA cellular component
GO:0005739 mitochondrion
 IEA cellular component
GO:0008033 tRNA processing
 IDA biological process
GO:0006432 phenylalanyl-tRNA aminoac
ylation
 IDA biological process
GO:0004826 phenylalanine-tRNA ligase
activity
 IDA molecular function
GO:0000049 tRNA binding
 IDA molecular function

KEGG pathways

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Pathway idPathway name
hsa00970Aminoacyl-tRNA biosynthesis

Diseases

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Associated diseases References
Hereditary spastic paraplegia KEGG:H00266
Combined oxidative phosphorylation deficiency KEGG:H00891
Hereditary spastic paraplegia KEGG:H00266
Combined oxidative phosphorylation deficiency KEGG:H00891
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Cryptorchidism MIK: 28606200
Teratozoospermia MIK: 17327269

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia
13 (5 controls,
8 cases)
 Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract