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Aliases for FARS2 Gene

Aliases for FARS2 Gene

  • Phenylalanyl-TRNA Synthetase 2, Mitochondrial 2 3
  • FARS1 3 4 6
  • Phenylalanine-TRNA Synthetase 1 (Mitochondrial) 2 3
  • EC 6.1.1.20 4 63
  • COXPD14 3 6
  • PheRS 3 4
  • DJ520B18.2 (FARS1 (Phenylalanine-TRNA Synthetase)) 3
  • Phenylalanine TRNA Ligase 2, Mitochondrial 3
  • DJ236A3.1 (Phenylalanine-TRNA Synthetase) 3
  • Phenylalanine--TRNA Ligase, Mitochondrial 3
  • Phenylalanyl-TRNA Synthetase 4
  • Phenylalanine TRNA Ligase 2 2
  • Phenylalanine Translase 3
  • Mitochondrial 2
  • DJ520B18.2 3
  • EC 6.1.1 63
  • 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

  • Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a phenylalanine-tRNA synthetase (PheRS) localized to the mitochondrion which consists of a single polypeptide chain, unlike the (alpha-beta)2 structure of the prokaryotic and eukaryotic cytoplasmic forms of PheRS. Structure analysis and catalytic properties indicate mitochondrial PheRSs may constitute a class of PheRS distinct from the enzymes found in prokaryotes and in the eukaryotic cytoplasm. [provided by RefSeq, Jul 2008]

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 magnesium ion binding and phenylalanine-tRNA ligase activity. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FARS2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for FARS2 Gene

Gene Families for FARS2 Gene

HGNC:
  • aaRS2 :Aminoacyl tRNA synthetases / Class II

Suggested Antigen Peptide Sequences for FARS2 Gene

Graphical View of Domain Structure for InterPro Entry

O95363

UniProtKB/Swiss-Prot:

SYFM_HUMAN :
  • O95363
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:0000049 tRNA binding IDA 10329163
GO:0000166 nucleotide binding --
GO:0000287 magnesium ion binding IEA --
GO:0004812 aminoacyl-tRNA ligase activity --
GO:0004826 phenylalanine-tRNA ligase activity IDA 10329163
genes like me logo Genes that share ontologies with FARS2: view

Phenotypes for FARS2 Gene

GenomeRNAi human phenotypes for FARS2:
genes like me logo Genes that share phenotypes with FARS2: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FARS2

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targeting 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 4
cytosol 2
peroxisome 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for FARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005739 mitochondrion --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with FARS2: view

Pathways 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:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006432 phenylalanyl-tRNA aminoacylation IDA 10329163
GO:0008033 tRNA processing IDA 10329163
GO:0010467 gene expression TAS --
GO:0043039 tRNA aminoacylation --
genes like me logo Genes that share ontologies with FARS2: view

Compounds for FARS2 Gene

(5) HMDB Compounds for FARS2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
L-Phenylalanine
  • (-)-beta-Phenylalanine
63-91-2
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8

(1) Drugbank Compounds for FARS2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Phenylalanine
  • (S)-alpha-Amino-beta-phenylpropionic acid
63-91-2 target
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FARS2

Primer Products

Flow Cytometry Products

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

Integrated Proteomics: protein expression 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 expressions with FARS2: view

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 35
  • 99.56 (n)
  • 99.33 (a)
FARS2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FARS2 35
  • 82.96 (n)
  • 86.1 (a)
FARS2 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FARS2 35
  • 87.44 (n)
  • 90.02 (a)
FARS2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fars2 35
  • 84.18 (n)
  • 85.14 (a)
Fars2 16
Fars2 36
  • 85 (a)
OneToOne
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 Dr.17690 35
fars2 35
  • 69.08 (n)
  • 71.57 (a)
fars2 36
  • 63 (a)
OneToMany
FARS2 (2 of 2) 36
  • 73 (a)
OneToMany
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 35
  • 47.49 (n)
  • 41.94 (a)
MSF1 36
  • 35 (a)
OneToMany
MSF1 38
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 MAF
rs126049 -- 5,472,031(+) CTCTT(A/C)CTCTT intron-variant
rs169247 -- 5,483,001(+) CCATA(C/T)GCACA intron-variant
rs169248 -- 5,475,835(+) TCTCT(A/G)TGTCC intron-variant
rs172055 -- 5,446,222(-) AAAAA(A/T)TTTCT intron-variant
rs182118 -- 5,468,380(+) aaaaa(C/G)TTAGC intron-variant

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

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

(1) OMIM Diseases for FARS2 Gene (611592)

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.

(2) University of Copenhagen DISEASES for FARS2 Gene

Relevant External Links for FARS2

Genetic Association Database (GAD)
FARS2
Human Genome Epidemiology (HuGE) Navigator
FARS2
genes like me logo Genes that share disorders with FARS2: view

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
  2. The tRNA-induced conformational activation of human mitochondrial phenylalanyl-tRNA synthetase. (PMID: 18611382) Klipcan L. … Safro M. (Structure 2008) 3 4 23
  3. 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 4 23
  4. 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
  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

  • Addgene plasmids for FARS2

Sources for FARS2 Gene

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