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FXN Gene

protein-coding   GIFtS: 68
GCID: GC09P071650

Frataxin

(Previous name: Friedreich ataxia)
(Previous symbol: FRDA)
  See FXN-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
frataxin1 2     CyaY2
FRDA1 2 3 5     FA2
X252 3 5     Frataxin, Mitochondrial2
Friedreich Ataxia Protein2 3     EC 1.16.3.13
FARR2 5     Fxn3
Friedreich Ataxia1     

External Ids:    HGNC: 39511   Entrez Gene: 23952   Ensembl: ENSG000001650607   OMIM: 6068295   UniProtKB: Q165953   

Export aliases for FXN gene to outside databases

Previous GC identifers: GC09P068879 GC09P070840 GC09P041495


(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 FXN Gene:
This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in
regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA
results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. (provided by RefSeq,
Jun 2009)

GeneCards Summary for FXN Gene:
FXN (frataxin) is a protein-coding gene. Diseases associated with FXN include friedreich ataxia with retained reflexes, and friedreich ataxia. GO annotations related to this gene include ferrous iron binding and enzyme binding.

UniProtKB/Swiss-Prot: FRDA_HUMAN, Q16595
Function: Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+)
to proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress
through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form
has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite
mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the
function has only been shown using heterologous overexpression systems. Modulates the RNA-binding activity of
ACO1

Gene Wiki entry for FXN (Frataxin) 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_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the FXN gene promoter:
         AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFXN promoter sequence
   Search Chromatin IP Primers for FXN

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


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

Entrez Gene cytogenetic band: 9q21.11   Ensembl cytogenetic band:  9q21.11   HGNC cytogenetic band: 9q21.11

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P071650:  view genomic region     (about GC identifiers)

Start:
71,650,175 bp from pter      End:
71,715,094 bp from pter
Size:
64,920 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FRDA_HUMAN, Q16595 (See protein sequence)
Recommended Name: Frataxin, mitochondrial precursor  
Size: 210 amino acids; 23135 Da
Subunit: Monomer (probable predominant form). Oligomer. Monomers and polymeric aggregates of >1 MDa have been
isolated from mitochondria. A small fraction of heterologous overexpressed recombinant frataxin forms
high-molecular wight aggregates that incoroprate iron. Interacts with LYRM4 AND HSPA9. Interacts with ACO1.
Interacts with ISCU isoform 1 and isoform 2. Interacts with FECH; one iron-bound FXN monomer seems to interact
with a FECH homodimer. Interacts with SDHA and SDHB. Interacts with ACO2; the interaction is dependent on citrate
(By similarity)
Miscellaneous: The unusual migration profile of mature frataxin on SDS-PAGE due to its acidic N-terminus most
likely contributed to conflicting reports for the N-terminus of the mature protein. Unlike prokaryotic and yeast
frataxin homologs, which self-assemble at high iron concentrations, oligomerization of human frataxin is not
induced by iron. The existence of a specialized mitochondrial ferritin in mammalia (FTMT) is suggesting that iron
storage would be redundant function, at least in mammalian mitochondria
Selected PDB 3D structures from and Proteopedia for FXN (see all 11):
1EKG (3D)        1LY7 (3D)        3S4M (3D)        3S5D (3D)        3S5E (3D)        3S5F (3D)    
Secondary accessions: A8MXJ6 C9JJ89 O15545 O95656 Q15294 Q5VZ01
Alternative splicing: 3 isoforms:  Q16595-1   Q16595-2   Q16595-3   (No experimental confirmation available. Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for FXN: NX_Q16595

Explore proteomics data for FXN at MOPED

Post-translational modifications: 

  • Processed in two steps by mitochondrial processing peptidase (MPP). MPP first cleaves the precursor to
    intermediate form and subsequently converts the intermediate to yield frataxin mature form (frataxin(81-210))
    which is the predominant form. The additional forms, frataxin(56-210) and frataxin(78-210), seem to be produced
    when the normal maturation process is impaired; their physiological relevance is unsure1
  • Ubiquitination2 at Lys197
  • Modification sites at PhosphoSitePlus

  • See FXN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000135.2  NP_001155178.1  NP_852090.1  

    ENSEMBL proteins: 
     ENSP00000366482   ENSP00000379652   ENSP00000418015   ENSP00000419243   ENSP00000379650  
    Reactome Protein details: Q16595

    FXN Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for FXN

     
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    Cloud-Clone Corp. ELISAs for FXN
    Cloud-Clone Corp. CLIAs for FXN
    Search eBioscience for ELISAs for FXN 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR020895 Frataxin_CS
     IPR002908 Frataxin/CyaY
     IPR017789 Frataxin

    Graphical View of Domain Structure for InterPro Entry Q16595

    ProtoNet protein and cluster: Q16595

    1 Blocks protein domain: IPB001794 Frataxin signature

    UniProtKB/Swiss-Prot: FRDA_HUMAN, Q16595
    Similarity: Belongs to the frataxin family


    Find genes that share domains with FXN           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: FRDA_HUMAN, Q16595
    Function: Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+)
    to proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress
    through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form
    has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite
    mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the
    function has only been shown using heterologous overexpression systems. Modulates the RNA-binding activity of
    ACO1
    Catalytic activity: 4 Fe(2+) + 4 H(+) + O(2) = 4 Fe(3+) + 2 H(2)O

         Enzyme Number (IUBMB): EC 1.16.3.11

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004322ferroxidase activity IDA15641778
    GO:0005515protein binding IPI15123683
    GO:0008198ferrous iron binding IDA12785837
    GO:0008199ferric iron binding IDA12785837
    GO:0019899enzyme binding ----
         
    Find genes that share ontologies with FXN           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for FXN:
     Decreased focal adhesion (FA)   Proliferating cells 

         10 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Fxn):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  growth/size/body 
     homeostasis/metabolism  mortality/aging  muscle  nervous system  no phenotypic analysis 

    Find genes that share phenotypes with FXN           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for FXN: Fxntm1Mkn Fxntm2.1Mkn

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FXN
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FXN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FXN
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FXN

    miRNA
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    miRTarBase miRNAs that target FXN:
    hsa-mir-624-3p (MIRT007236), hsa-mir-299-3p (MIRT007233), hsa-mir-522-3p (MIRT007232), hsa-mir-100-5p (MIRT048445), hsa-mir-559 (MIRT007228), hsa-mir-620 (MIRT007231), hsa-mir-124-3p (MIRT007235), hsa-mir-589-5p (MIRT007229), hsa-mir-1270 (MIRT007230), hsa-mir-506-3p (MIRT007234), hsa-mir-935 (MIRT036668)

    Block miRNA regulation of human, mouse, rat FXN using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate FXN:
    hsa-miR-196a* hsa-miR-26b* hsa-miR-511 hsa-miR-182 hsa-miR-186 hsa-miR-145 hsa-miR-32* hsa-miR-4257
    SwitchGear 3'UTR luciferase reporter plasmidFXN 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FXN

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FXN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FXN
    Addgene plasmids for FXN 

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    eBioscience FlowRNA Probe Sets ( VA1-12582) for FXN 


    (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
    FRDA_HUMAN, Q16595: Cytoplasm. Mitochondrion. Note=PubMed:18725397 reports localization exclusively in
    mitochondria
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol4
    nucleus2
    extracellular1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA17468497
    GO:0005759mitochondrial matrix TAS--
    GO:0005829cytosol IDA17468497

    Find genes that share ontologies with FXN           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 FXN About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    3Mitochondrial Protein Import
    Mitochondrial Protein Import
    4Mitochondrial Iron-Sulfur Cluster Biogenesis
    Mitochondrial Iron-Sulfur Cluster Biogenesis
    5HIF-2-alpha transcription factor network
    HIF-2-alpha transcription factor network


    Find genes that share SuperPaths with FXN           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for FXN
        HIF-2-alpha transcription factor network

    2 Reactome Pathways for FXN
        Mitochondrial iron-sulfur cluster biogenesis
    Mitochondrial protein import


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

        GeneGlobe Interaction Network for FXN

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

    Selected Interacting proteins for FXN (Q165952, 3 ENSP000003664824) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PASKQ96RG22, 3, ENSP000002340404MINT-8145353 I2D: score=1 STRING: ENSP00000234040
    ACTN1P128142, 3, ENSP000003779414MINT-2856633 I2D: score=2 STRING: ENSP00000377941
    PICK1Q9NRD52, 3, ENSP000003494654MINT-2866674 I2D: score=3 STRING: ENSP00000349465
    PMPCBO754393, ENSP000002492694I2D: score=4 STRING: ENSP00000249269
    EPAS1ENSP000002637344STRING: ENSP00000263734
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 30):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006119oxidative phosphorylation IEA--
    GO:0006783heme biosynthetic process NAS15123683
    GO:0006811ion transport IEA--
    GO:0006879cellular iron ion homeostasis IMP18160053
    GO:0007005mitochondrion organization IEA--

    Find genes that share ontologies with FXN           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FXN (FRDA)

    2 HMDB Compounds for FXN    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    IronArmco iron (see all 19)7439-89-6--

    Selected Novoseek inferred chemical compound relationships for FXN gene (see all 20)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    idebenone 85.5 3 15028670 (3)
    iron-sulfur 84.3 51 17098208 (3), 16677095 (2), 17499976 (2), 18425540 (2) (see all 38)
    iron 80.5 338 11986241 (10), 12785837 (6), 11823441 (6), 12140189 (5) (see all 99)
    ferrihydrite 51.9 6 12755598 (3), 17475338 (1), 15641778 (1)
    ferric ammonium citrate 47.8 1 11986241 (1)
    deferoxamine 43 1 11986241 (1)
    fenton 37.7 2 19853582 (1), 16120311 (1)
    succinate 35.6 5 15961414 (2), 15509595 (1), 16293572 (1)
    vitamin-e 34.3 3 9302253 (1), 17112370 (1), 8931268 (1)
    protoporphyrin ix 21.4 2 11986241 (2)



    Find genes that share compounds with FXN           About GenesLikeMe



    (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 FXN gene (3 alternative transcripts): 
    NM_000144.4  NM_001161706.1  NM_181425.2  

    Unigene Cluster for FXN:

    Frataxin
    Hs.20685  [show with all ESTs]
    Unigene Representative Sequence: NM_181425
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377270(uc004agz.2 uc004aha.2) ENST00000396366 ENST00000498653
    ENST00000484259 ENST00000396364(uc011lrr.1)
    miRNA
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    8 qRT-PCR Assays for microRNAs that regulate FXN:
    hsa-miR-196a* hsa-miR-26b* hsa-miR-511 hsa-miR-182 hsa-miR-186 hsa-miR-145 hsa-miR-32* hsa-miR-4257
    SwitchGear 3'UTR luciferase reporter plasmidFXN 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): FXN (NM_000144)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FXN
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    Additional mRNA sequence: 

    AK308620.1 BC023633.2 BC048097.1 U43747.1 

    7 DOTS entries:

    DT.313618  DT.442811  DT.95201658  DT.121154715  DT.40272550  DT.75178921  DT.95227251 

    Selected AceView cDNA sequences (see all 62):

    W01790 NM_000144 BF058880 AI362785 AI199550 BF056227 BF058323 AA677419 
    AI086434 BC048097 AI951739 NM_181425 AI810693 CB528549 AA703613 AA253388 
    U43747 CD607657 BG748146 BG706146 AW014644 BC023633 BM840166 BM789577 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for FXN    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6
    SP1:              -                             -         
    SP2:              -                                       
    SP3:                                            -         
    SP4:                                            -         


    ECgene alternative splicing isoforms for FXN

    (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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    FXN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGGCAGGTG
    FXN Expression
    About this image


    FXN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    FXN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FXN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.20685

    UniProtKB/Swiss-Prot: FRDA_HUMAN, Q16595
    Tissue specificity: Expressed in the heart, peripheral blood lymphocytes and dermal fibroblasts

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FXN

    (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)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for FXN gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fxn1 , 5 frataxin1, 5 74.96(n)1
    74.15(a)1
      19 (19.39 cM)5
    142971  NM_008044.21  NP_032070.11 
     242614535 
    chicken
    (Gallus gallus)
    Aves FXN1 frataxin 71.36(n)
    78.87(a)
      427244  XM_424827.4  XP_424827.3 
    lizard
    (Anolis carolinensis)
    Reptilia FXN6
    frataxin
    69(a)
    1 ↔ 1
    2(49715216-49724074)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004977891 frataxin, mitochondrial-like 69.44(n)
    79.55(a)
      100497789  XM_004910799.1  XP_004910856.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fxn1 frataxin 62.82(n)
    65.38(a)
      556389  NM_001083016.1  NP_001076485.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta fh6
    frataxin homolog
    40(a)
    1 ↔ 1
    X(9042113-9043104)
    worm
    (Caenorhabditis elegans)
    Secernentea frh-16
    Protein FRH-1 (frh-1) mRNA, complete cds
    43(a)
    1 ↔ 1
    II(5917422-5918319) WBGene00001486
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YFH1(YDL120W)4 Mitochondrial matrix iron chaperone; oxidizes and stores more   --   4(245923-246447) 851437  NP_010163.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons FH1 FH 45.31(n)
    39.52(a)
      828013  NM_116562.3  NP_192233.2 
    rice
    (Oryza sativa)
    Liliopsida Os01g07836001 Os01g0783600 53.09(n)
    49.38(a)
      4327058  NM_001050990.2  NP_001044455.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FXN gene
    1 SIMAP similar gene for FXN using alignment to 3 protein entries:     FRDA_HUMAN (see all proteins):
    x25

    Find genes that share paralogs with FXN           About GenesLikeMe


    4 Pseudogenes.org Pseudogenes for FXN
    PGOHUM00000247868 PGOHUM00000237971 PGOHUM00000235753 PGOHUM00000236331


    (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)
    About This Section

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    Selected SNPs for FXN (see all 1547)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0024284
    Friedreich ataxia (FRDA)4--see VAR_0024282 D Y mis40--------
    VAR_0024314
    Friedreich ataxia (FRDA)4--see VAR_0024312 W R mis40--------
    VAR_0024304
    Friedreich ataxia (FRDA)4--see VAR_0024302 I F mis40--------
    VAR_0081404
    Friedreich ataxia (FRDA)4--see VAR_0081402 L F mis40--------
    VAR_0160654
    Friedreich ataxia (FRDA)4--see VAR_0160652 L S mis40--------
    VAR_0024294
    Friedreich ataxia (FRDA)4--see VAR_0024292 G V mis40--------
    VAR_0160664
    Friedreich ataxia (FRDA)4--see VAR_0160662 L R mis40--------
    VAR_0081394
    Friedreich ataxia (FRDA)4--see VAR_0081392 R C mis40--------
    rs1048941051,2
    Cpathogenic171578241(+) CTCTTC/G/TAGCAG 9 S * L mis1 stg10--------
    rs1048941071,2
    Cpathogenic171589990(+) GAGTGG/TTGTCT 6 G V mis11Minor allele frequency- T:0.00NA 4548

    HapMap Linkage Disequilibrium report for FXN (71650175 - 71715094 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FXN (see all 19):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv3093CNV Deletion18987735
    esv2624430CNV Deletion19546169
    esv2738530CNV Deletion23290073
    esv2738531CNV Deletion23290073
    esv2738528CNV Deletion23290073
    esv1673718CNV Deletion17803354
    esv2738527CNV Deletion23290073
    esv2659849CNV Deletion23128226
    dgv45e194CNV Deletion18987734
    esv2422258CNV Duplication17116639

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 606829   
    OMIM disorders: 229300  
    UniProtKB/Swiss-Prot: FRDA_HUMAN, Q16595
  • Friedreich ataxia (FRDA) [MIM:229300]: Autosomal recessive, progressive degenerative disease
    characterized by neurodegeneration and cardiomyopathy it is the most common inherited ataxia. The disorder is
    usually manifest before adolescence and is generally characterized by incoordination of limb movements,
    dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski sign, impairment of position and vibratory
    senses, scoliosis, pes cavus, and hammer toe. In most patients, FRDA is due to GAA triplet repeat expansions in
    the first intron of the frataxin gene. But in some cases the disease is due to mutations in the coding region.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for FXN:    
    About MalaCards
    friedreich ataxia with retained reflexes    friedreich ataxia    x-linked sideroblastic anemia with ataxia    x-linked sideroblastic anemia
    ataxia    hereditary ataxia

    4 diseases from the University of Copenhagen DISEASES database for FXN:
    Friedreich ataxia     X-linked sideroblastic anemia with ataxia     Hypertrophic cardiomyopathy     Cerebellar ataxia

    Find genes that share disorders with FXN           About GenesLikeMe

    Selected Novoseek inferred disease relationships for FXN gene (see all 30)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    friedreich ataxia 99 272 12516053 (3), 18463734 (3), 9302253 (2), 10732799 (2) (see all 99)
    ataxias hereditary 87.8 6 16344344 (1), 12393810 (1), 12938016 (1), 17478498 (1) (see all 5)
    frda1 86.8 4 15376485 (3), 10102712 (1)
    neurodegenerative diseases 75.8 47 11428460 (1), 12140189 (1), 16911956 (1), 19104905 (1) (see all 37)
    spinocerebellar ataxias 73.7 1 9339708 (1)
    neurodegenerative diseases hereditary 73.6 2 10428860 (1), 14977802 (1)
    anemia sideroblastic 68.5 2 12938016 (1), 20393584 (1)
    vitamin e deficiency 66.6 3 9302253 (1), 17112370 (1), 8931268 (1)
    cardiomyopathy 65.4 11 9180083 (1), 9922348 (1), 16608849 (1), 11121484 (1) (see all 11)
    iron overload 61.8 11 15282205 (2), 11351132 (1), 18424449 (1), 15506716 (1) (see all 7)

    GeneTests: FXN
    GeneReviews: FXN
    Genetic Association Database (GAD): FXN
    Human Genome Epidemiology (HuGE) Navigator: FXN (14 documents)

    Export disorders for FXN 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 FXN gene, integrated from 10 sources (see all 340):
    (articles sorted by number of sources associating them with FXN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. (PubMed id 8596916)1, 2, 3 Campuzano V.... Pandolfo M. (Science 1996)
    2. Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia. (PubMed id 11823441)1, 2, 9 Cavadini P.... Isaya G. (Hum. Mol. Genet. 2002)
    3. The in vivo mitochondrial two-step maturation of human frataxin. (PubMed id 18725397)1, 2, 9 Schmucker S....Puccio H. (Hum. Mol. Genet. 2008)
    4. Supramolecular assemblies of human frataxin are formed via subunit- subunit interactions mediated by a non-conserved amino-terminal region. (PubMed id 15581888)1, 2, 9 O'Neill H.A.... Isaya G. (J. Mol. Biol. 2005)
    5. Iron-sulfur cluster biosynthesis. Characterization of frataxin as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins. (PubMed id 12785837)1, 2, 9 Yoon T. and Cowan J.A. (J. Am. Chem. Soc. 2003)
    6. Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase. (PubMed id 10428860)1, 2, 9 Branda S.S.... Isaya G. (J. Biol. Chem. 1999)
    7. In vivo maturation of human frataxin. (PubMed id 17468497)1, 2, 9 Condo I.... Testi R. (Hum. Mol. Genet. 2007)
    8. Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin. (PubMed id 20053667)1, 2, 9 Condo I.... Testi R. (Hum. Mol. Genet. 2010)
    9. Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones. (PubMed id 17331979)1, 2, 9 Shan Y.... Cortopassi G. (Hum. Mol. Genet. 2007)
    10. A pool of extramitochondrial frataxin that promotes cell survival. (PubMed id 16608849)1, 2, 9 Condo I.... Testi R. (J. Biol. Chem. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 2395 HGNC: 3951 AceView: FXN Ensembl:ENSG00000165060 euGenes: HUgn2395
    ECgene: FXN H-InvDB: FXN

    (According to HUGE)
    About This Section

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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 FXN Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FXN[genesymbol]

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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