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FANCG (Fanconi anemia, complementation group G)

Identity

Other namesFAG
XRCC9 (X-ray repair complementing defective repair 9)
HGNC FANCG
Location 9p13
Location_base_pair Starts at 35063835 and ends at 35070013 bp from pter ( according to hg18-Mar_2006).

DNA/RNA

Description 14 exons; 1869 bp open reading frame
Transcription 2.2 and 2.5 kb

Protein

Description 622 amino acids, 69 kDa; contains a leucine zipper; can be phosphorylated
Expression weak; testis, thymus, lymphoblasts.
Localisation predominantly nuclear
Function part of the FA complex with FANCA, FANCC, FANCE, and FANCF; this complex is only found in the nucleus.
  • FANCA and FANCG form a complex in the cytoplasm, through a N-term FANCA (involving the nuclear localization signal) - FANCG interaction; FANCC join the complex; phosphorylation of FANCA would induce its translocation into the nucleus.This FA complex translocates into the nucleus, where FANCE and FANCF are present; FANCE and FANCF join the complex. The FA complex subsequently interacts with FANCD2 by monoubiquitination of FANCD2 during S phase or following DNA damage. Activated (ubiquinated ) FANCD2, downstream in the FA pathway, will then interact with other proteins involved in DNA repair, possibly BRCA1; after DNA repair, FANCD2 return to the non-ubiquinated form.
  • Homology no known homology

    Mutations

    Germinal wide range of mutations (splice, nonsense, missense)

    Implicated in

    Entity Fanconi anaemia (FA); FANCG is implicated in the FA complementation group G; it represents about 10% of FA cases.
    Disease Fanconi anaemia is a chromosome instability syndrome/cancer prone disease (at risk of leukaemia and squamous cell carcinoma)
    Prognosis
  • Fanconi anaemia's prognosis is poor; mean survival is 20 years: patients die of bone marrow failure (infections, haemorrhages), leukaemia, or solid cancer.
  • It has recently been shown that significant phenotypic differences were found between the various complementation groups. FA group G patients had more severe cytopenia and a higher incidence of leukemia. FA group G patients patients are high-risk groups with a poor hematologic outcome and should be considered as candidates both for frequent monitoring and early therapeutic intervention.
  • Cytogenetics Spontaneously enhanced chromatid-type aberrations (breaks, gaps, interchanges; increased rate of breaks compared to control, when induced by specific clastogens known as DNA cross-linking agents (e.g. mitomycin C, diepoxybutane).
      

    External links

    Nomenclature
    HGNCFANCG   3588
    Entrez_GeneFANCG  2189  Fanconi anemia, complementation group G
    Cards
    AtlasFANCGID295
    GeneCardsFANCG
    EnsemblFANCG [Search_View]   ENSG00000165280 [Gene_View]  FANCG [Vega]
    GenatlasFANCG
    GeneLynxFANCG
    eGenomeFANCG
    euGene2189
    Genomic and cartography
    GoldenPathFANCG  -  9p13   chr9:35063835-35070013 -  9p13   [Description]    (hg18-Mar_2006)
    EnsemblFANCG - 9p13 [CytoView]
    NCBIMapview
    OMIMDisease map [OMIM]
    HomoloGeneFANCG
    Gene and transcription
    GenbankAJ007669 [ ENTREZ ]
    GenbankAK311348 [ ENTREZ ]
    GenbankAK312987 [ ENTREZ ]
    GenbankBC000032 [ ENTREZ ]
    GenbankBC011623 [ ENTREZ ]
    RefSeqNM_004629 [ SRS ]    NM_004629 [ ENTREZ ]
    RefSeqAC_000052 [ SRS ]    AC_000052 [ ENTREZ ]
    RefSeqAC_000141 [ SRS ]    AC_000141 [ ENTREZ ]
    RefSeqNC_000009 [ SRS ]    NC_000009 [ ENTREZ ]
    RefSeqNG_007312 [ SRS ]    NG_007312 [ ENTREZ ]
    RefSeqNG_007887 [ SRS ]    NG_007887 [ ENTREZ ]
    RefSeqNT_008413 [ SRS ]    NT_008413 [ ENTREZ ]
    RefSeqNW_001839149 [ SRS ]    NW_001839149 [ ENTREZ ]
    RefSeqNW_924062 [ SRS ]    NW_924062 [ ENTREZ ]
    CCDSFANCG CCDS - NCBI
    AceViewFANCG AceView - NCBI
    UnigeneHs.591084 [ SRS ]    Hs.591084 [ NCBI ]     HS591084 [ spliceNest ]
    Fast-db5774 (alternative variants)
    Protein : pattern, domain, 3D structure
    SwissProtO15287 [ SRS]    O15287 [ EXPASY ]     O15287 [ INTERPRO ]     O15287 [ UNIPROT ] O15287 [ VarSplice ]
    PrositePS50005 TPR [ SRS ]    PS50005 TPR [ Expasy ]
    PrositePS50293 TPR_REGION [ SRS ]    PS50293 TPR_REGION [ Expasy ]
    InterproIPR011990 TPR-like_helical [ SRS ]    IPR011990 TPR-like_helical [ EBI ]
    InterproIPR013026 TPR_region [ SRS ]    IPR013026 TPR_region [ EBI ]
    CluSTrO15287
    SmartSM00028 TPR [EMBL]
    BlocksO15287
    HPRD04262
    Protein Interaction databases
    DIPO15287
    IntActO15287
    Polymorphism : SNP, mutations, diseases
    OMIM602956    [ map ]   
    GENECLINICS602956
    SNPFANCG [dbSNP-NCBI]  
    SNPNM_004629 [SNP-NCI]  
    SNPFANCG [GeneSNPs - Utah]  FANCG] [HGBASE - SRS]
    HAPMAPFANCG [HAPMAP]  
    COSMICFANCG [Somatic mutation (COSMIC-CGP-Sanger)]  
    HGMDFANCG
    Genetic AssociationFANCG
    CDC HuGEFANCG
    General knowledge
    Family BrowserFANCG [UCSC Family Browser]
    SOURCENM_004629
    SMDHs.591084
    SAGEHs.591084
    GOcell cycle checkpoint [Amigo]  cell cycle checkpoint
    GOdamaged DNA binding [Amigo]  damaged DNA binding
    GOprotein binding [Amigo]  protein binding
    GOnucleus [Amigo]  nucleus
    GOcytoplasm [Amigo]  cytoplasm
    GOmicrosome [Amigo]  microsome
    GODNA repair [Amigo]  DNA repair
    GOcaspase activation [Amigo]  caspase activation
    BIOCARTARole of BRCA1, BRCA2 and ATR in Cancer Susceptibility    [Genes]
    BIOCARTABRCA1-dependent Ub-ligase activity    [Genes]
    PubGeneFANCG
    TreeFamFANCG
    CTD2189 [Comparative ToxicoGenomics Database]
    Other databases
    Other databaseFanconi anemia mutation database
    Probes
    ProbeCancer Cytogenetics (Bari)
    ProbeFANCG Related clones (RZPD - Berlin)
    PubMed
    PubMed49 Pubmed reference(s) in Entrez

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    Contributor(s)

    Written06-2002Jean-Loup Huret

    Citation

    This paper should be referenced as such :
    Huret JL . FANCG (Fanconi anemia, complementation group G). Atlas Genet Cytogenet Oncol Haematol. June 2002 .
    URL : http://AtlasGeneticsOncology.org/Genes/FANCGID295.html

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Sun Nov 9 19:40:38 2008


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