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FARS2 Gene

protein-coding   GIFtS: 66
GCID: GC06P005207

Phenylalanyl-TRNA Synthetase 2, Mitochondrial

(Previous name: phenylalanine-tRNA synthetase 1 (mitochondrial))
(Previous symbol: FARS1)
  See FARS2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Phenylalanyl-TRNA Synthetase 2, Mitochondrial1 2     dJ520B18.22
FARS11 2 3 5     DJ236A3.1 (Phenylalanine-TRNA Synthetase)2
Phenylalanine-TRNA Synthetase 1 (Mitochondrial)1 2     DJ520B18.2 (FARS1 (Phenylalanine-TRNA Synthetase))2
PheRS2 3     Phenylalanine Translase2
EC 6.1.1.203 8     Phenylalanine TRNA Ligase 2, Mitochondrial2
COXPD142 5     Phenylalanine--TRNA Ligase, Mitochondrial2
mitochondrial1     Phenylalanine-TRNA Synthetase 2 (Mitochondrial)2
Phenylalanine TRNA Ligase 21     Phenylalanyl-TRNA Synthetase3
HSPC3202     EC 6.1.18

External Ids:    HGNC: 210621   Entrez Gene: 106672   Ensembl: ENSG000001459827   OMIM: 6115925   UniProtKB: O953633   

Export aliases for FARS2 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 alpers syndrome. GO annotations related to this gene include phenylalanine-tRNA ligase activity and magnesium ion binding. An important paralog of this gene is FDXACB1.

UniProtKB/Swiss-Prot: SYFM_HUMAN, O95363
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

Gene Wiki entry for FARS2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FARS2 gene promoter:
         HOXA3   Brachyury   NRSF form 1   NRSF form 2   MEF-2A   PPAR-gamma1   FOXO1a   aMEF-2   PPAR-gamma2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFARS2 promoter sequence
   Search Chromatin IP Primers for FARS2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FARS2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p25.1   Ensembl cytogenetic band:  6p25.1   HGNC cytogenetic band: 6p25.1

FARS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FARS2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P005207:  view genomic region     (about GC identifiers)

Start:
5,261,277 bp from pter      End:
5,771,816 bp from pter
Size:
510,540 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SYFM_HUMAN, O95363 (See protein sequence)
Recommended Name: Phenylalanine--tRNA ligase, mitochondrial precursor  
Size: 451 amino acids; 52357 Da
Subunit: Monomer
Sequence caution: Sequence=AAF28998.1; Type=Frameshift; Positions=414;
4 PDB 3D structures from and Proteopedia for FARS2:
3CMQ (3D)        3HFV (3D)        3TEG (3D)        3TUP (3D)    
Secondary accessions: B2R664 Q53F66 Q5TCS3 Q6FG29 Q9NPY7 Q9P062

Explore the universe of human proteins at neXtProt for FARS2: NX_O95363

Explore proteomics data for FARS2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for FARS2 (O95363)
     GLERLAM  IPDIRLFW  WLEVLGCG 


    See FARS2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006558.1  
    ENSEMBL proteins: 
     ENSP00000316335   ENSP00000473394   ENSP00000274680   ENSP00000392525  
    Reactome Protein details: O95363

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    aaRS2: Aminoacyl tRNA synthetases / Class II

    4 InterPro protein domains:
     IPR006195 aa-tRNA-synth_II
     IPR005121 PheS_beta_Fdx_antiC-bd
     IPR004530 Phe-tRNA-synth_IIc_mito
     IPR002319 Phenylalanyl-tRNA_Synthase

    Graphical View of Domain Structure for InterPro Entry O95363

    ProtoNet protein and cluster: O95363

    2 Blocks protein domains:
    IPB002319 Phenylalanyl-tRNA synthetase
    IPB005121 Ferredoxin-fold anticodon binding domain


    UniProtKB/Swiss-Prot: SYFM_HUMAN, O95363
    Similarity: Belongs to the class-II aminoacyl-tRNA synthetase family
    Similarity: Contains 1 FDX-ACB domain


    Find genes that share domains with FARS2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SYFM_HUMAN, O95363
    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
    Catalytic activity: ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + L-phenylalanyl-tRNA(Phe)
    Biophysicochemical properties: Kinetic parameters: KM=2.2 uM for L-phenylalanine (PubMed:19549855); KM=1900 uM for
    L-tyrosine (PubMed:19549855); KM=11.7 uM for DL-m-tyrosine (PubMed:19549855); KM=7.3 uM for L-phenylalanine
    (PubMed:22833457); KM=2.9 mM for ATP (PubMed:22833457); KM=1.2 uM for tRNA(Phe) (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);

         Enzyme Numbers (IUBMB): EC 6.1.1.201 2 EC 6.1.12

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000049tRNA binding IDA10329163
    GO:0000166nucleotide binding ----
    GO:0000287magnesium ion binding IEA--
    GO:0004812aminoacyl-tRNA ligase activity ----
    GO:0004826phenylalanine-tRNA ligase activity IDA10329163
         
    Find genes that share ontologies with FARS2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for FARS2:
     Synthetic lethal with Ras 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for FARS2

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SYFM_HUMAN, O95363: Mitochondrion matrix (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion4
    cytosol2
    peroxisome2
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with FARS2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for FARS2 About    
    See pathways by source

    SuperPathContained pathways About
    1tRNA Aminoacylation
    tRNA Aminoacylation0.57
    Mitochondrial tRNA aminoacylation0.50
    Aminoacyl-tRNA biosynthesis0.52
    2Gene Expression
    Gene Expression0.40


    Find genes that share SuperPaths with FARS2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for FARS2
        Mitochondrial tRNA aminoacylation


    1 Kegg Pathway  (Kegg details for FARS2):
        Aminoacyl-tRNA biosynthesis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FARS2
    Interactions:

        Search GeneGlobe Interaction Network for FARS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for FARS2 (O953632, 3 ENSP000002746804) via UniProtKB, MINT, STRING, and/or I2D (see all 334)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AFG3L2Q9Y4W62, 3, ENSP000002691434MINT-8079030 I2D: score=1 STRING: ENSP00000269143
    VDAC3Q9Y2772, 3MINT-8079030 I2D: score=1 
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    MTIF2P461993, ENSP000002636294I2D: score=1 STRING: ENSP00000263629
    PRELID1Q9Y2553, ENSP000003021144I2D: score=1 STRING: ENSP00000302114
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006418tRNA aminoacylation for protein translation TAS--
    GO:0006432phenylalanyl-tRNA aminoacylation IDA10329163
    GO:0008033tRNA processing IDA10329163
    GO:0010467gene expression TAS--
    GO:0043039tRNA aminoacylation ----

    Find genes that share ontologies with FARS2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for FARS2 (SYFM)

    5 HMDB Compounds for FARS2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    L-Phenylalanine(-)-beta-Phenylalanine (see all 28)63-91-2--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    1 DrugBank Compound for FARS2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Phenylalanine(S)-alpha-Amino-beta-phenylpropionic acid (see all 4)63-91-2target--16338408 17139284 17016423 16969782



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FARS2 gene: 
    NM_006567.3  

    Unigene Cluster for FARS2:

    Phenylalanyl-tRNA synthetase 2, mitochondrial
    Hs.484547  [show with all ESTs]
    Unigene Representative Sequence: AK001146
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000324331 ENST00000602691 ENST00000274680(uc010jnv.1 uc003mwr.2)
    ENST00000445533
    miRNA
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    Additional mRNA sequence: 

    AF097441.1 AF161438.1 AK001146.1 AK223423.1 AK312454.1 BC020239.1 BC021112.1 CR542279.1 

    13 DOTS entries:

    DT.113666  DT.100775351  DT.100775348  DT.91818027  DT.121343587  DT.91896131  DT.100019529  DT.100019530 
    DT.102831491  DT.91931536  DT.95181349  DT.95187167  DT.97791151 

    Selected AceView cDNA sequences (see all 143):

    AA724346 AL544087 BI909293 BG216750 CR623404 AL558979 CR608064 CR591198 
    BM919602 BX104547 AA486503 AW661842 W86670 BC020239 BX348502 AL530356 
    BI761156 CR542279 CR594172 BI764581 BF514670 AL514552 BX426509 CR626764 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for FARS2    About this scheme

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


    ECgene alternative splicing isoforms for FARS2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FARS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAACGGACTC
    FARS2 Expression
    About this image


    FARS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Thymus (Hematopoietic System)
             Thymus
     
     Kidney (Urinary System)
             Metanephros
    FARS2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FARS2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.484547
        Custom PCR Arrays for FARS2
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for FARS2 gene from Selected species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fars21 , 5 phenylalanine-tRNA synthetase 2 (mitochondrial)1, 5 84.18(n)1
    85.14(a)1
      13 (14.44 cM)5
    699551  NM_024274.31  NP_077236.11 
     361174115 
    chicken
    (Gallus gallus)
    Aves FARS21 phenylalanyl-tRNA synthetase 2, mitochondrial 73.45(n)
    76.03(a)
      428482  XM_426039.4  XP_426039.2 
    lizard
    (Anolis carolinensis)
    Reptilia FARS26
    phenylalanyl-tRNA synthetase 2, mitochondrial
    67(a)
    1 ↔ 1
    GL343421.1(94663-390183)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fars21 phenylalanyl-tRNA synthetase 2, mitochondrial 66.74(n)
    67.05(a)
      100491109  XM_002936424.2  XP_002936470.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.176902 Transcribed sequence with moderate similarity to protein more 74.98(n)    AL920221.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Aats-phe1 Phenylalanyl-tRNA synthetase 55.71(n)
    53.19(a)
      36547  NM_057935.4  NP_477283.1 
    worm
    (Caenorhabditis elegans)
    Secernentea fars-21 fars-2 51.56(n)
    50.36(a)
      180303  NM_075451.5  NP_507852.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MSF1(YPR047W)4
    MSF11
    Mitochondrial phenylalanyl-tRNA synthetase, active more4
    MSF11
    47.49(n)1
    41.94(a)1
      16(657529-658938)4
    8561601, 4  NP_015372.21, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G581401 AT3G58140 54.47(n)
    50.84(a)
      824983  NM_115676.2  NP_567061.1 
    rice
    (Oryza sativa)
    Liliopsida Os.277722 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 71.78(n)    AK099502.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FARS2 gene
    FDXACB12  ENSG000002585292  

    Find genes that share paralogs with FARS2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FARS2 (see all 11765)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0694894
    Combined oxidative phosphorylation deficiency 14 (COXPD14)4--see VAR_0694892 D V mis40--------
    VAR_0694874
    Combined oxidative phosphorylation deficiency 14 (COXPD14)4--see VAR_0694872 Y C mis40--------
    VAR_0694884
    Combined oxidative phosphorylation deficiency 14 (COXPD14)4--see VAR_0694882 I T mis40--------
    rs666361031,2
    C--5187590(+) TATGCT/-TATTA 1 -- us2k11Minor allele frequency- -:0.50NA 2
    rs1388142501,2
    --5187723(+) GCAGCA/CTGAGT 1 -- us2k10--------
    rs1927546041,2
    --5187783(+) CTTAGC/TGTTCC 1 -- us2k10--------
    rs1407292511,2
    C--5187808(+) GTTGT-/AACTGG 1 -- us2k10--------
    rs132131751,2
    C,F--5187865(+) GGCCTC/ACCTAA 1 -- us2k12Minor allele frequency- A:0.50NA 4
    rs1848062301,2
    --5187917(+) AATCCA/TCAGTC 1 -- us2k10--------
    rs1487001311,2
    --5188059(+) TCTAAA/GAAAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FARS2 (5261277 - 5511277 bp, first 250kb of FARS2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FARS2 (see all 37):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661883CNV Deletion23128226
    esv2658807CNV Deletion23128226
    esv2677547CNV Deletion23128226
    esv2731514CNV Deletion23290073
    esv2672966CNV Deletion23128226
    esv2672723CNV Deletion23128226
    esv2660241CNV Deletion23128226
    esv2662401CNV Deletion23128226
    esv1038059CNV Insertion17803354
    esv272799CNV Insertion20981092

    Human Gene Mutation Database (HGMD): FARS2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FARS2
    DNA2.0 Custom Variant and Variant Library Synthesis for FARS2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611592   
    OMIM disorders: 614946  
    UniProtKB/Swiss-Prot: SYFM_HUMAN, O95363
  • 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. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 2 diseases for FARS2:    
    About MalaCards
    combined oxidative phosphorylation deficiency 14    alpers syndrome

    2 diseases from the University of Copenhagen DISEASES database for FARS2:
    Alpers syndrome     Mitochondrial encephalomyopathy

    Find genes that share disorders with FARS2           About GenesLikeMe

    Genetic Association Database (GAD): FARS2
    Human Genome Epidemiology (HuGE) Navigator: FARS2 (5 documents)

    Export disorders for FARS2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FARS2 gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with FARS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression and characterization of a human mitochondrial phenylalanyl-tRNA synthetase. (PubMed id 10329163)1, 2, 3, 9 Bullard J.M.... Spremulli L.L. (J. Mol. Biol. 1999)
    2. Eukaryotic cytosolic and mitochondrial phenylalanyl-tRNA synthetases catalyze the charging of tRNA with the meta-tyrosine. (PubMed id 19549855)1, 2, 9 Klipcan L.... Safro M.G. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    3. The tRNA-induced conformational activation of human mitochondrial phenylalanyl-tRNA synthetase. (PubMed id 18611382)1, 2, 9 Klipcan L.... Safro M. (Structure 2008)
    4. Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. (PubMed id 22833457)1, 2 Elo J.M.... Suomalainen A. (Hum. Mol. Genet. 2012)
    5. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (PubMed id 21998595)1, 4 N'Diaye A....Haiman C.A. (PLoS Genet. 2011)
    6. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10667 HGNC: 21062 AceView: FARS1 Ensembl:ENSG00000145982 euGenes: HUgn10667
    ECgene: FARS2 Kegg: 10667 H-InvDB: FARS2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for FARS2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FARS2 gene:
    Search GeneIP for patents involving FARS2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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