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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
  • Phenylalanine TRNA Ligase 2, Mitochondrial 2 3
  • EC 6.1.1.20 4 58
  • FARS1 3 4
  • PheRS 3 4
  • DJ520B18.2 (FARS1 (Phenylalanine-TRNA Synthetase)) 3
  • DJ236A3.1 (Phenylalanine-TRNA Synthetase) 3
  • Phenylalanine--TRNA Ligase, Mitochondrial 3
  • Phenylalanyl-TRNA Synthetase 4
  • Phenylalanine Translase 3
  • Mitochondrial PHERS 3
  • EC 6.1.1 58
  • COXPD14 3
  • HSPC320 3
  • SPG77 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 Spastic Paraplegia 77, Autosomal Recessive. Among its related pathways are tRNA Aminoacylation and Gene Expression. 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

Additional gene information for FARS2 Gene

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

Genomics for FARS2 Gene

Regulatory Elements for FARS2 Gene

Enhancers for FARS2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H005259 1.4 ENCODE dbSUPER 11.5 -0.1 -72 3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 LYRM4 FARS2 CDYL GC06M005233
GH06H005230 1.1 Ensembl ENCODE 12.1 -30.2 -30164 1 HDAC1 PKNOX1 ATF1 ARNT NFRKB ZBTB40 GATA2 ATF7 ETV6 CREM LYRM4 FARS2 GC06P005234 GC06M005169
GH06H005214 0.9 ENCODE 11.5 -45.6 -45562 2 HDAC1 ATF1 ARID4B RAD21 ZNF143 CREM MIXL1 ZNF654 ZEB2 REST LYRM4 FARS2 GC06P005234 GC06M005169
GH06H005203 1.6 FANTOM5 Ensembl ENCODE 5.9 -55.6 -55625 3 FOXA2 ATF1 MLX ARID4B FEZF1 DMAP1 ZNF2 YY1 SLC30A9 GLIS2 LYRM4 FARS2 GC06P005234 GC06M005169
GH06H004343 0.8 dbSUPER 10.5 -916.3 -916305 2 MAX ZIC2 ZEB1 ZFHX2 POLR2A PATZ1 RFX1 MCM3 YY2 L3MBTL2 CDYL PRPF4B LYRM4-AS1 FARS2 PSMC1P11 LOC101927888 GC06P004318 PIR45023
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FARS2 on UCSC Golden Path with GeneCards custom track

Promoters for FARS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000192524 282 2601 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766

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

Selected DME Specific Peptides for FARS2 Gene

O95363:
  • IPDIRLFW
  • WLEVLGCG
  • GLERLAM

Post-translational modifications for FARS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for FARS2 Gene

Gene Families for FARS2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for FARS2 Gene

Graphical View of Domain Structure for InterPro Entry

O95363

UniProtKB/Swiss-Prot:

SYFM_HUMAN :
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
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

Phenotypes From GWAS Catalog 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 IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004826 phenylalanine-tRNA ligase activity IEA,TAS --
GO:0005515 protein binding IPI 25416956
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FARS2
  • Applied Biological Materials Clones for FARS2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FARS2 gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
peroxisome 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FARS2 Gene

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

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:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006432 phenylalanyl-tRNA aminoacylation IEA,IDA 10329163
GO:0008033 tRNA processing IDA 10329163
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: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Phenylalanine Approved Nutra Target 0
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
ATP Nutra Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FARS2
  • Applied Biological Materials Clones for FARS2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for FARS2 Gene



Protein tissue co-expression partners for FARS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FARS2 Gene:

FARS2

SOURCE GeneReport for Unigene cluster for FARS2 Gene:

Hs.484547

Evidence on tissue expression from TISSUES for FARS2 Gene

  • Nervous system(4.4)
  • Kidney(4.2)
  • Blood(4.1)
  • Pancreas(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FARS2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • head
  • skull
genes like me logo Genes that share expression patterns with FARS2: view

Primer 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 33 34
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia FARS2 34 33
  • 87.44 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fars2 33
  • 84.41 (n)
mouse
(Mus musculus)
Mammalia Fars2 16 34 33
  • 84.18 (n)
cow
(Bos Taurus)
Mammalia FARS2 33 34
  • 82.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FARS2 34
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FARS2 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves FARS2 33 34
  • 73.45 (n)
lizard
(Anolis carolinensis)
Reptilia FARS2 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fars2 33
  • 66.74 (n)
zebrafish
(Danio rerio)
Actinopterygii FARS2 (2 of 2) 34
  • 73 (a)
OneToMany
fars2 34 33
  • 69.08 (n)
OneToMany
Dr.17690 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012096 33
  • 58.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta Aats-phe 33 34
  • 55.71 (n)
worm
(Caenorhabditis elegans)
Secernentea fars-2 33 34
  • 51.56 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL305C 33
  • 52.45 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B12177g 33
  • 48.98 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSF1 33 34 36
  • 47.49 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G58140 33
  • 54.47 (n)
soybean
(Glycine max)
eudicotyledons Gma.1742 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9734 33
rice
(Oryza sativa)
Liliopsida Os12g0533700 33
  • 54.42 (n)
Os.27772 33
barley
(Hordeum vulgare)
Liliopsida Hv.1247 33
corn
(Zea mays)
Liliopsida Zm.10591 33
bread mold
(Neurospora crassa)
Ascomycetes NCU01512 33
  • 53.17 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC736.03c 33
  • 50.4 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8582 34
  • 47 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9084 33
Species where no ortholog for FARS2 was found in the sources mined by GeneCards:
  • 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
rs397514610 Pathogenic, Combined oxidative phosphorylation deficiency 14 (COXPD14) [MIM:614946] 5,369,001(+) CAACT(A/G)TTACC nc-transcript-variant, reference, missense
rs397514611 Pathogenic, Combined oxidative phosphorylation deficiency 14 (COXPD14) [MIM:614946] 5,545,261(+) TGATA(C/T)CCGTC nc-transcript-variant, downstream-variant-500B, reference, missense
rs397514612 Pathogenic, Combined oxidative phosphorylation deficiency 14 (COXPD14) [MIM:614946] 5,613,275(+) AGGAG(A/T)CCTGG nc-transcript-variant, reference, missense
VAR_077044 Spastic paraplegia 77, autosomal recessive (SPG77) [MIM:617046]
rs145555213 Pathogenic 5,368,994(+) AGGGG(A/G/T)ACAAC nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv369n21 CNV loss 19592680
dgv5912n100 CNV loss 25217958
esv1007519 CNV insertion 20482838
esv1038059 CNV insertion 17803354
esv1603290 CNV insertion 17803354
esv2658807 CNV deletion 23128226
esv2660241 CNV deletion 23128226
esv2661883 CNV deletion 23128226
esv2662401 CNV deletion 23128226
esv2672723 CNV deletion 23128226
esv2672966 CNV deletion 23128226
esv2677547 CNV deletion 23128226
esv2731514 CNV deletion 23290073
esv275561 CNV loss 21479260
esv2761042 CNV loss 21179565
esv2761060 CNV loss 21179565
esv2763528 CNV gain 21179565
esv32935 CNV loss 17666407
esv3304301 CNV mobile element insertion 20981092
esv3308526 CNV mobile element insertion 20981092
esv3310002 CNV mobile element insertion 20981092
esv3333105 CNV insertion 20981092
esv3369816 CNV insertion 20981092
esv3376023 CNV insertion 20981092
esv3395286 CNV insertion 20981092
esv3570738 CNV loss 25503493
esv3570739 CNV loss 25503493
esv3607966 CNV loss 21293372
esv3607968 CNV loss 21293372
esv3607971 CNV gain 21293372
esv3607973 CNV loss 21293372
esv3607974 CNV loss 21293372
esv3607976 CNV loss 21293372
esv3607977 CNV loss 21293372
esv3607978 CNV loss 21293372
esv3607979 CNV loss 21293372
esv3607980 CNV loss 21293372
esv3607981 CNV loss 21293372
esv3890786 CNV loss 25118596
nsv1015549 CNV loss 25217958
nsv1016905 CNV loss 25217958
nsv1017506 CNV gain 25217958
nsv1022505 CNV loss 25217958
nsv1022738 CNV loss 25217958
nsv1028185 CNV loss 25217958
nsv1030744 CNV loss 25217958
nsv1137057 CNV deletion 24896259
nsv436891 CNV insertion 17901297
nsv478026 CNV novel sequence insertion 20440878
nsv478429 CNV novel sequence insertion 20440878
nsv507312 OTHER sequence alteration 20534489
nsv516648 CNV loss 19592680
nsv517574 CNV loss 19592680
nsv5180 CNV deletion 18451855
nsv5181 CNV deletion 18451855
nsv5182 CNV insertion 18451855
nsv522836 CNV loss 19592680
nsv523206 CNV loss 19592680
nsv600872 CNV gain 21841781
nsv600873 CNV gain 21841781
nsv600883 CNV loss 21841781
nsv600884 CNV loss 21841781
nsv600885 CNV loss 21841781
nsv600886 CNV loss 21841781
nsv600887 CNV loss 21841781
nsv823406 CNV loss 20364138
nsv823407 CNV loss 20364138
nsv823408 CNV loss 20364138
nsv830578 CNV gain 17160897
nsv969345 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
FARS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FARS2

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

Disorders for FARS2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for FARS2 Gene - From: HGMD, 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.
  • Spastic paraplegia 77, autosomal recessive (SPG77) [MIM:617046]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269 PubMed:26553276}. 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 JM … Spremulli LL (Journal of molecular biology 1999) 2 3 4 22 60
  2. Eukaryotic cytosolic and mitochondrial phenylalanyl-tRNA synthetases catalyze the charging of tRNA with the meta-tyrosine. (PMID: 19549855) Klipcan L … Safro MG (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 22 60
  3. The tRNA-induced conformational activation of human mitochondrial phenylalanyl-tRNA synthetase. (PMID: 18611382) Klipcan L … Safro M (Structure (London, England : 1993) 2008) 3 4 22 60
  4. A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia. (PMID: 26553276) Yang Y … Wu Y (Human mutation 2016) 3 4 60
  5. Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. (PMID: 22499341) Shamseldin HE … Alkuraya FS (Journal of medical genetics 2012) 3 4 60

Products for FARS2 Gene

  • Addgene plasmids for FARS2

Sources for FARS2 Gene

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