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Aliases for FARS2 Gene

Aliases for FARS2 Gene

  • Phenylalanyl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • Phenylalanine-TRNA Synthetase 1 (Mitochondrial) 2 3
  • EC 6.1.1.20 4 63
  • FARS1 3 4
  • PheRS 3 4
  • DJ520B18.2 (FARS1 (Phenylalanine-TRNA Synthetase)) 3
  • Phenylalanine TRNA Ligase 2, Mitochondrial 3
  • DJ236A3.1 (Phenylalanine-TRNA Synthetase) 3
  • Phenylalanyl-TRNA Synthetase 4
  • Phenylalanine TRNA Ligase 2 2
  • Phenylalanine Translase 3
  • Mitochondrial PHERS 3
  • Mitochondrial 2
  • EC 6.1.1 63
  • COXPD14 3
  • HSPC320 3

External Ids for FARS2 Gene

Previous HGNC Symbols for FARS2 Gene

  • FARS1

Previous GeneCards Identifiers for FARS2 Gene

  • GC06P005207

Summaries for FARS2 Gene

Entrez Gene Summary for FARS2 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]

GeneCards Summary for FARS2 Gene

FARS2 (Phenylalanyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with FARS2 include combined oxidative phosphorylation deficiency 14 and combined oxidative phosphorylation deficiency. Among its related pathways are Gene Expression and tRNA Aminoacylation. GO annotations related to this gene include nucleotide binding and tRNA binding. An important paralog of this gene is FDXACB1.

UniProtKB/Swiss-Prot for FARS2 Gene

  • 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.

Gene Wiki entry for FARS2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FARS2 Gene

Genomics for FARS2 Gene

Regulatory Elements for FARS2 Gene

Promoters for FARS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FARS2 on UCSC Golden Path with GeneCards custom track

Genomic Location for FARS2 Gene

Chromosome:
6
Start:
5,261,018 bp from pter
End:
5,771,583 bp from pter
Size:
510,566 bases
Orientation:
Plus strand

Genomic View for FARS2 Gene

Genes around FARS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FARS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FARS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FARS2 Gene

Proteins for FARS2 Gene

  • Protein details for FARS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95363-SYFM_HUMAN
    Recommended name:
    Phenylalanine--tRNA ligase, mitochondrial
    Protein Accession:
    O95363
    Secondary Accessions:
    • B2R664
    • Q53F66
    • Q5TCS3
    • Q6FG29
    • Q9NPY7
    • Q9P062

    Protein attributes for FARS2 Gene

    Size:
    451 amino acids
    Molecular mass:
    52357 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAF28998.1; Type=Frameshift; Positions=414; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FARS2 Gene

neXtProt entry for FARS2 Gene

Proteomics data for FARS2 Gene at MOPED

Selected DME Specific Peptides for FARS2 Gene

Post-translational modifications for FARS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FARS2 Gene

Antibody Products

Domains & Families for FARS2 Gene

Gene Families for FARS2 Gene

Suggested Antigen Peptide Sequences for FARS2 Gene

Graphical View of Domain Structure for InterPro Entry

O95363

UniProtKB/Swiss-Prot:

SYFM_HUMAN :
  • Contains 1 FDX-ACB domain.
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
Domain:
  • Contains 1 FDX-ACB domain.
Family:
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with FARS2: view

Function for FARS2 Gene

Molecular function for FARS2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.2 uM for L-phenylalanine {ECO:0000269 PubMed:19549855, ECO:0000269 PubMed:22833457}; KM=1900 uM for L-tyrosine {ECO:0000269 PubMed:19549855, ECO:0000269 PubMed:22833457}; KM=11.7 uM for DL-m-tyrosine {ECO:0000269 PubMed:19549855, ECO:0000269 PubMed:22833457}; KM=7.3 uM for L-phenylalanine {ECO:0000269 PubMed:19549855, ECO:0000269 PubMed:22833457}; KM=2.9 mM for ATP {ECO:0000269 PubMed:19549855, ECO:0000269 PubMed:22833457}; KM=1.2 uM for tRNA(Phe) {ECO:0000269 PubMed:19549855, ECO:0000269 PubMed:22833457}; Note=kcat is 2.8 min(-1), 2.0 min(-1) and 3.1 min(-1) with L- phenylalanine, L-tyrosine and m-tyrosine as substrate, respectively. Thus, the catalytic efficiency of the m-Tyr attachment is only 5-fold lower than that of the correct amino acid, while that of Tyr attachment is 1000-fold lower (PubMed:19549855). {ECO:0000269 PubMed:19549855};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + L-phenylalanyl-tRNA(Phe).
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for FARS2 Gene

Gene Ontology (GO) - Molecular Function for FARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
genes like me logo Genes that share ontologies with FARS2: view
genes like me logo Genes that share phenotypes with FARS2: view

Human Phenotype Ontology for FARS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for FARS2

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FARS2 Gene

Localization for FARS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FARS2 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FARS2 Gene COMPARTMENTS Subcellular localization image for FARS2 gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
cytosol 2
peroxisome 2

No data available for Gene Ontology (GO) - Cellular Components for FARS2 Gene

Pathways & Interactions for FARS2 Gene

genes like me logo Genes that share pathways with FARS2: view

Pathways by source for FARS2 Gene

1 KEGG pathway for FARS2 Gene

Gene Ontology (GO) - Biological Process for FARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043039 tRNA aminoacylation IEA --
genes like me logo Genes that share ontologies with FARS2: view

No data available for SIGNOR curated interactions for FARS2 Gene

Drugs & Compounds for FARS2 Gene

(4) Drugs for FARS2 Gene - From: HMDB and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Phenylalanine Approved Nutra Target 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

(1) Additional Compounds for FARS2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with FARS2: view

Transcripts for FARS2 Gene

Unigene Clusters for FARS2 Gene

Phenylalanyl-tRNA synthetase 2, mitochondrial:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FARS2 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7
SP1: -
SP2: -
SP3:

Relevant External Links for FARS2 Gene

GeneLoc Exon Structure for
FARS2
ECgene alternative splicing isoforms for
FARS2

Expression for FARS2 Gene

mRNA expression in normal human tissues for FARS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FARS2 Gene

This gene is overexpressed in Heart (23.8) and Stomach (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FARS2 Gene



SOURCE GeneReport for Unigene cluster for FARS2 Gene Hs.484547

genes like me logo Genes that share expression patterns with FARS2: view

Protein tissue co-expression partners for FARS2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FARS2 Gene

Orthologs for FARS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FARS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FARS2 36
  • 99 (a)
OneToOne
FARS2 35
  • 99.56 (n)
  • 99.33 (a)
cow
(Bos Taurus)
Mammalia FARS2 36
  • 86 (a)
OneToOne
FARS2 35
  • 82.96 (n)
  • 86.1 (a)
dog
(Canis familiaris)
Mammalia FARS2 35
  • 87.44 (n)
  • 90.02 (a)
FARS2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fars2 36
  • 85 (a)
OneToOne
Fars2 16
Fars2 35
  • 84.18 (n)
  • 85.14 (a)
oppossum
(Monodelphis domestica)
Mammalia FARS2 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FARS2 36
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fars2 35
  • 84.41 (n)
  • 86.25 (a)
chicken
(Gallus gallus)
Aves FARS2 35
  • 73.45 (n)
  • 76.03 (a)
FARS2 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FARS2 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fars2 35
  • 66.74 (n)
  • 67.05 (a)
zebrafish
(Danio rerio)
Actinopterygii fars2 36
  • 63 (a)
OneToMany
FARS2 (2 of 2) 36
  • 73 (a)
OneToMany
Dr.17690 35
fars2 35
  • 69.08 (n)
  • 71.57 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012096 35
  • 58.14 (n)
  • 55.44 (a)
fruit fly
(Drosophila melanogaster)
Insecta Aats-phe 35
  • 55.71 (n)
  • 53.19 (a)
Aats-phe 36
  • 48 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea fars-2 35
  • 51.56 (n)
  • 50.36 (a)
fars-2 36
  • 43 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL305C 35
  • 52.45 (n)
  • 43.91 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSF1 36
  • 35 (a)
OneToMany
MSF1 38
MSF1 35
  • 47.49 (n)
  • 41.94 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B12177g 35
  • 48.98 (n)
  • 43.98 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9734 35
soybean
(Glycine max)
eudicotyledons Gma.1742 35
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G58140 35
  • 54.47 (n)
  • 50.84 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.1247 35
corn
(Zea mays)
Liliopsida Zm.10591 35
rice
(Oryza sativa)
Liliopsida Os.27772 35
Os12g0533700 35
  • 54.42 (n)
  • 49.08 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01512 35
  • 53.17 (n)
  • 43.66 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC736.03c 35
  • 50.4 (n)
  • 44.3 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9084 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8582 36
  • 47 (a)
OneToOne
Species with no ortholog for FARS2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FARS2 Gene

ENSEMBL:
Gene Tree for FARS2 (if available)
TreeFam:
Gene Tree for FARS2 (if available)

Paralogs for FARS2 Gene

Paralogs for FARS2 Gene

genes like me logo Genes that share paralogs with FARS2: view

Variants for FARS2 Gene

Sequence variations from dbSNP and Humsavar for FARS2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs34382405 - 5,368,740(+) CAAAT(C/G)CTACC nc-transcript-variant, reference, missense
rs11243011 - 5,431,107(+) GATCA(A/C/G)CTTTC nc-transcript-variant, reference, missense
VAR_069487 Combined oxidative phosphorylation deficiency 14 (COXPD14)
VAR_069488 Combined oxidative phosphorylation deficiency 14 (COXPD14)
VAR_069489 Combined oxidative phosphorylation deficiency 14 (COXPD14)

Structural Variations from Database of Genomic Variants (DGV) for FARS2 Gene

Variant ID Type Subtype PubMed ID
nsv830578 CNV Gain 17160897
esv275561 CNV Loss 21479260
nsv883417 CNV Loss 21882294
nsv883418 CNV Loss 21882294
nsv883419 CNV Loss 21882294
esv272799 CNV Insertion 20981092
esv268580 CNV Insertion 20981092
esv1038059 CNV Insertion 17803354
nsv5180 CNV Loss 18451855
esv32935 CNV Loss 17666407
esv274274 CNV Insertion 20981092
esv270572 CNV Insertion 20981092
nsv883420 CNV Loss 21882294
esv272745 CNV Insertion 20981092
esv267822 CNV Insertion 20981092
nsv5181 CNV Loss 18451855
esv1007519 CNV Insertion 20482838
esv1603290 CNV Insertion 17803354
esv2672966 CNV Deletion 23128226
esv2661883 CNV Deletion 23128226
nsv516648 CNV Loss 19592680
esv2662401 CNV Deletion 23128226
nsv507312 CNV Insertion 20534489
esv2672723 CNV Deletion 23128226
nsv517574 CNV Loss 19592680
nsv823406 CNV Loss 20364138
esv2731514 CNV Deletion 23290073
esv2677547 CNV Deletion 23128226
nsv823407 CNV Loss 20364138
nsv436891 CNV Insertion 17901297
nsv5182 CNV Insertion 18451855
esv2658807 CNV Deletion 23128226
nsv523206 CNV Loss 19592680
dgv369n21 CNV Loss 19592680
nsv522836 CNV Loss 19592680
nsv823408 CNV Loss 20364138
esv2660241 CNV Deletion 23128226

Variation tolerance for FARS2 Gene

Residual Variation Intolerance Score: 51.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.27; 40.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FARS2 Gene

HapMap Linkage Disequilibrium report
FARS2
Human Gene Mutation Database (HGMD)
FARS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FARS2 Gene

Disorders for FARS2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for FARS2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search FARS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYFM_HUMAN
  • 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 mutations affecting the gene represented in this entry.

Relevant External Links for FARS2

Genetic Association Database (GAD)
FARS2
Human Genome Epidemiology (HuGE) Navigator
FARS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FARS2
genes like me logo Genes that share disorders with FARS2: view

No data available for Genatlas for FARS2 Gene

Publications for FARS2 Gene

  1. Expression and characterization of a human mitochondrial phenylalanyl-tRNA synthetase. (PMID: 10329163) Bullard J.M. … Spremulli L.L. (J. Mol. Biol. 1999) 2 3 4 23 67
  2. Eukaryotic cytosolic and mitochondrial phenylalanyl-tRNA synthetases catalyze the charging of tRNA with the meta-tyrosine. (PMID: 19549855) Klipcan L. … Safro M.G. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 23
  3. Large-scale movement of functional domains facilitates aminoacylation by human mitochondrial phenylalanyl-tRNA synthetase. (PMID: 19737557) Yadavalli S.S. … Ibba M. (FEBS Lett. 2009) 3 23
  4. The tRNA-induced conformational activation of human mitochondrial phenylalanyl-tRNA synthetase. (PMID: 18611382) Klipcan L. … Safro M. (Structure 2008) 3 23
  5. Purification, crystallization and preliminary X-ray characterization of a human mitochondrial phenylalanyl-tRNA synthetase. (PMID: 17768348) Levin I. … Safro M. (Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 2007) 3 23

Products for FARS2 Gene

Sources for FARS2 Gene

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