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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
  • 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 6.1.1.20 4
  • 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. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for FARS2 Gene

Promoters and enhancers for FARS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J005259 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 661.5 -0.1 -71 3.7 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B LYRM4 FARS2 CDYL GC06M005233
GH06J005230 Enhancer 1 Ensembl ENCODE 12.1 -30.2 -30164 1.4 HDAC1 PKNOX1 ATF1 ARNT NFRKB ZBTB40 ETV6 ATF7 CREM ZBTB2 LYRM4 FARS2 GC06P005234 GC06M005169 LYRM4-AS1
GH06J005214 Enhancer 0.9 ENCODE 11.5 -45.6 -45561 2.3 HDAC1 ATF1 ARID4B SIN3A RAD21 ZNF614 ARID2 ZNF143 PRPF4 CREM LYRM4 FARS2 GC06P005234 GC06M005169 LYRM4-AS1
GH06J005203 Enhancer 1.4 FANTOM5 Ensembl ENCODE 5.9 -55.6 -55624 3.5 SMAD1 FOXA2 MLX ARID4B FEZF1 DMAP1 ZNF2 YY1 SLC30A9 SP5 LYRM4 FARS2 GC06P005234 GC06M005169 LYRM4-AS1
GH06J004343 Enhancer 0.7 dbSUPER 10.5 -916.3 -916305 2.9 MAX MCM2 ZIC2 YY1 ZEB1 ZFHX2 POLR2A PATZ1 RFX1 MCM3 CDYL PRPF4B LYRM4-AS1 FARS2 PSMC1P11 LOC101927888 PIR45023 GC06P004318 ENSG00000285424
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FARS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FARS2 gene promoter:
  • NRSF form 2
  • NRSF form 1
  • MEF-2A
  • aMEF-2
  • PPAR-gamma1
  • PPAR-gamma2
  • FOXO1a
  • FOXO1
  • HOXA3
  • Brachyury

Genomic Locations for FARS2 Gene

Genomic Locations for FARS2 Gene
chr6:5,261,018-5,771,583
(GRCh38/hg38)
Size:
510,566 bases
Orientation:
Plus strand
chr6:5,261,277-5,771,816
(GRCh37/hg19)
Size:
510,540 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

Post-translational modifications for FARS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FARS2 Gene

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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + L-phenylalanyl-tRNA(Phe).
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};

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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. 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,IBA --
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 IDA,IEA 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, Investigational Nutra Target 0
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FARS2

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, 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
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
  • skull
genes like me logo Genes that share expression patterns with FARS2: view

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 34 33
  • 99.56 (n)
OneToOne
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 34 33
  • 82.96 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FARS2 34
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FARS2 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves FARS2 34 33
  • 73.45 (n)
OneToOne
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 34 33
  • 55.71 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea fars-2 34 33
  • 51.56 (n)
OneToOne
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 36 34 33
  • 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
Cin.9084 33
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)
Aminode:
Evolutionary constrained regions (ECRs) for FARS2: view image

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 Variation AA Info Type
rs113155624 benign, not specified, Combined oxidative phosphorylation deficiency 14 5,368,672(+) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs116567033 benign, not specified, Combined oxidative phosphorylation deficiency 14 5,404,666(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs142073519 likely-pathogenic, uncertain-significance, not provided, Combined oxidative phosphorylation deficiency 14 5,545,246(+) A/G coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs145555213 pathogenic, Spastic paraplegia 77, autosomal recessive, Spastic paraplegia 77, autosomal recessive (SPG77) [MIM:617046] 5,368,994(+) G/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs146356199 uncertain-significance, likely-benign, not specified, Combined oxidative phosphorylation deficiency 14 5,369,076(+) A/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

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)

Additional Variant Information for FARS2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for FARS2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for FARS2 Gene - From: HGMD, OMIM, ClinVar, GTR, 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.

Additional Disease Information for FARS2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 58
  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 58
  4. A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia. (PMID: 26553276) Yang Y … Wu Y (Human mutation 2016) 3 4 58
  5. Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. (PMID: 22833457) Elo JM … Suomalainen A (Human molecular genetics 2012) 3 4 58

Products for FARS2 Gene

Sources for FARS2 Gene

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