ZFIN ID: ZDB-GENE-070209-286
Gene Name: frataxin
Gene Symbol: fxn    Nomenclature History

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Previous Name: zgc:158218

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 8 Mapping Details/Browsers
Description: Predicted to have 2 iron, 2 sulfur cluster binding activity; ferroxidase activity; and iron ion binding activity. Predicted to be involved in cellular iron ion homeostasis; iron incorporation into metallo-sulfur cluster; and mitochondrion organization. Predicted to localize to the mitochondrion. Human ortholog(s) of this gene implicated in Friedreich ataxia; Friedreich ataxia 1; and type 2 diabetes mellitus. Orthologous to human FXN (frataxin).
Genome Resources: Alliance (1),  Gene:556389 (1),  Ensembl(GRCz11):ENSDARG00000074356 (2)
GENE EXPRESSION
Curated Microarray Expression: GEO (1) , Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa11321 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa16490 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa34315 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    TALEN1-fxn,tjp2b
    1
    PHENOTYPE No data available
    DISEASE ASSOCIATED WITH fxn HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Friedreich ataxia 1 Alliance Friedreich ataxia 229300
    Friedreich ataxia with retained reflexes 229300
    DISEASE ASSOCIATED WITH fxn VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process iron-sulfur cluster assembly (more)
    Cellular Component mitochondrion (more)
    Molecular Function ferric iron binding (more)
    GO Terms (all 11)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Family IPR002908 Frataxin/CyaY
    Family IPR017789 Frataxin
    Conserved_site IPR020895 Frataxin conserved site
    Homologous_superfamily IPR036524 Frataxin/CyaY superfamily
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA fxn-201 (1)    Ensembl 2780
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM fxn No data available
    MARKER RELATIONSHIPS
    fxn Contained in: [BAC] DKEYP-118A9
    fxn Encodes: [cDNA] MGC:158218 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001083016 (1) 2852 bp
    Genomic GenBank:CT025876 (1) 132901 bp
    Select Tool
    Polypeptide UniProtKB:B0V2S4 (1) 200 aa
    Sequence Information (all 10)
    ORTHOLOGY for fxn ( Chr: 8 )
    CITATIONS (20)