FARS2

Protein identityUniProt · HPA

UniProt accession

O95363

Gene

FARS2

Ensembl

ENSG00000145982

Chromosome

6

Canonical length

451 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

OverviewNCBI Gene

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 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Canonical amino-acid sequenceUniProt

451 residues, UniProt reviewed canonical sequence.

>O95363|FARS2
     1  MVGSALRRGA HAYVYLVSKA SHISRGHQHQ AWGSRPPAAE CATQRAPGSV VELLGKSYPQ
    61  DDHSNLTRKV LTRVGRNLHN QQHHPLWLIK ERVKEHFYKQ YVGRFGTPLF SVYDNLSPVV
   121  TTWQNFDSLL IPADHPSRKK GDNYYLNRTH MLRAHTSAHQ WDLLHAGLDA FLVVGDVYRR
   181  DQIDSQHYPI FHQLEAVRLF SKHELFAGIK DGESLQLFEQ SSRSAHKQET HTMEAVKLVE
   241  FDLKQTLTRL MAHLFGDELE IRWVDCYFPF THPSFEMEIN FHGEWLEVLG CGVMEQQLVN
   301  SAGAQDRIGW AFGLGLERLA MILYDIPDIR LFWCEDERFL KQFCVSNINQ KVKFQPLSKY
   361  PAVINDISFW LPSENYAEND FYDLVRTIGG DLVEKVDLID KFVHPKTHKT SHCYRITYRH
   421  MERTLSQREV RHIHQALQEA AVQLLGVEGR F

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FARS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.29

Highest tissue expression

35 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FARS2.

Disease | AllUniProt

Conditions FARS2 is implicated in, by any mechanism.

• Combined oxidative phosphorylation deficiency 14 (COXPD14) MIM:614946
• Spastic paraplegia 77, autosomal recessive (SPG77) MIM:617046

Disease | GeneticClinVar

64 pathogenic / likely-pathogenic of 562 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Combined oxidative phosphorylation defect type 14
• Hereditary spastic paraplegia 77
• FARS2-related disorder
• Inborn genetic diseases
• See cases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.15

gnomAD pLI

0

gnomAD missense Z

0.68

DepMap mean gene effect

-0.33

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• phenylalanyl-tRNA aminoacylation
• tRNA aminoacylation for protein translation
• tRNA processing

Molecular functions

• ATP binding
• phenylalanine-tRNA ligase activity
• tRNA binding

Cellular components

• cytoplasm
• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Phenylalanyl-tRNA synthetase
• Ferrodoxin-fold anticodon-binding domain
• Aminoacyl-tRNA synthetase, class II
• Ferrodoxin-fold anticodon-binding domain superfamily
• Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL)
• tRNA synthetases class II core domain (F)
• Ferredoxin-fold anticodon binding domain
• Phenylalanyl-tRNA synthetase, class IIc, mitochondrial

KeywordsUniProt

• Acetylation
• Aminoacyl-tRNA synthetase
• ATP-binding
• Hereditary spastic paraplegia
• Ligase
• Mitochondrion
• Neurodegeneration
• Nucleotide-binding
• Primary mitochondrial disease
• Protein biosynthesis
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of FARS2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ZRANB1