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FANCG (Fanconi anemia, complementation group G)

Identity

Other namesFAG
XRCC9 (X-ray repair complementing defective repair 9)
HGNC (Hugo) FANCG
LocusID (NCBI) 2189
Location 9p13.3
Location_base_pair Starts at 35073835 and ends at 35080013 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics

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
    HGNC (Hugo)FANCG   3588
    Cards
    AtlasFANCGID295
    Entrez_Gene (NCBI)FANCG  2189  Fanconi anemia, complementation group G
    GeneCards (Weizmann)FANCG
    Ensembl (Hinxton)ENSG00000221829 [Gene_View]  chr9:35073835-35080013 [Contig_View]  FANCG [Vega]
    ICGC DataPortalENSG00000221829
    cBioPortalFANCG
    AceView (NCBI)FANCG
    Genatlas (Paris)FANCG
    WikiGenes2189
    SOURCE (Princeton)NM_004629
    Genomic and cartography
    GoldenPath (UCSC)FANCG  -  9p13.3   chr9:35073835-35080013 -  9p13   [Description]    (hg19-Feb_2009)
    EnsemblFANCG - 9p13 [CytoView]
    Mapping of homologs : NCBIFANCG [Mapview]
    OMIM602956   614082   
    Gene and transcription
    Genbank (Entrez)AJ007669 AK293427 AK311348 AK312987 BC000032
    RefSeq transcript (Entrez)NM_004629
    RefSeq genomic (Entrez)AC_000141 NC_000009 NC_018920 NG_007312 NT_008413 NW_001839149 NW_004929342
    Consensus coding sequences : CCDS (NCBI)FANCG
    Cluster EST : UnigeneHs.591084 [ NCBI ]
    CGAP (NCI)Hs.591084
    Alternative Splicing : Fast-db (Paris)GSHG0030781
    Alternative Splicing GalleryENSG00000221829
    Gene ExpressionFANCG [ NCBI-GEO ]     FANCG [ SEEK ]   FANCG [ MEM ]
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtO15287 (Uniprot)
    NextProtO15287  [Medical]
    With graphics : InterProO15287
    Splice isoforms : SwissVarO15287 (Swissvar)
    Domains : Interpro (EBI)TPR-like_helical [organisation]   TPR_1 [organisation]   TPR_repeat [organisation]  
    Related proteins : CluSTrO15287
    Domain families : Pfam (Sanger)TPR_1 (PF00515)   
    Domain families : Pfam (NCBI)pfam00515   
    Domain families : Smart (EMBL)TPR (SM00028)  
    DMDM Disease mutations2189
    Blocks (Seattle)O15287
    Human Protein AtlasENSG00000221829 [gene] [tissue] [antibody] [cell] [cancer]
    Peptide AtlasO15287
    HPRD04262
    IPIIPI00005769   IPI00916449   IPI00917414   
    Protein Interaction databases
    DIP (DOE-UCLA)O15287
    IntAct (EBI)O15287
    FunCoupENSG00000221829
    BioGRIDFANCG
    InParanoidO15287
    Interologous Interaction database O15287
    IntegromeDBFANCG
    STRING (EMBL)FANCG
    Ontologies - Pathways
    Ontology : AmiGOcell cycle checkpoint  ovarian follicle development  damaged DNA binding  protein binding  nucleoplasm  nucleolus  cytoplasm  mitochondrion  plasma membrane  DNA repair  mitochondrion organization  spermatid development  response to radiation  Fanconi anaemia nuclear complex  
    Ontology : EGO-EBIcell cycle checkpoint  ovarian follicle development  damaged DNA binding  protein binding  nucleoplasm  nucleolus  cytoplasm  mitochondrion  plasma membrane  DNA repair  mitochondrion organization  spermatid development  response to radiation  Fanconi anaemia nuclear complex  
    Pathways : BIOCARTARole of BRCA1, BRCA2 and ATR in Cancer Susceptibility [Genes]    BRCA1-dependent Ub-ligase activity [Genes]   
    Pathways : KEGGFanconi anemia pathway   
    Protein Interaction DatabaseFANCG
    Wikipedia pathwaysFANCG
    Gene fusion - rearrangments
    Polymorphisms : SNP, mutations, diseases
    SNP Single Nucleotide Polymorphism (NCBI)FANCG
    snp3D : Map Gene to Disease2189
    SNP (GeneSNP Utah)FANCG
    SNP : HGBaseFANCG
    Genetic variants : HAPMAPFANCG
    Exome VariantFANCG
    1000_GenomesFANCG 
    ICGC programENSG00000221829 
    Cancer Gene: CensusFANCG 
    Somatic Mutations in Cancer : COSMICFANCG 
    CONAN: Copy Number AnalysisFANCG 
    Mutations and Diseases : HGMDFANCG
    Genomic VariantsFANCG  FANCG [DGVbeta]
    dbVarFANCG
    ClinVarFANCG
    Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
    Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
    Diseases
    OMIM602956    614082   
    MedgenFANCG
    GENETestsFANCG
    Disease Genetic AssociationFANCG
    Huge Navigator FANCG [HugePedia]  FANCG [HugeCancerGEM]
    General knowledge
    Homologs : HomoloGeneFANCG
    Homology/Alignments : Family Browser (UCSC)FANCG
    Phylogenetic Trees/Animal Genes : TreeFamFANCG
    Chemical/Protein Interactions : CTD2189
    Chemical/Pharm GKB GenePA28002
    Clinical trialFANCG
    Cancer Resource (Charite)ENSG00000221829
    Other databases
    Other databaseFanconi anemia mutation database
    Probes
    ProbeCancer Cytogenetics (Bari)
    Litterature
    PubMed105 Pubmed reference(s) in Entrez
    CoreMineFANCG
    iHOPFANCG
    OncoSearchFANCG

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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. 2002;6(4):283-284.
    Free online version   Free pdf version   [Bibliographic record ]
    URL : http://AtlasGeneticsOncology.org/Genes/FANCGID295.html

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    indexed on : Fri Aug 8 11:11:31 CEST 2014

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