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FANCG (Fanconi anemia, complementation group G)

Written2002-06Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Other namesFAG
XRCC9 (X-ray repair complementing defective repair 9)
HGNC (Hugo) FANCG
LocusID (NCBI) 2189
Atlas_Id 295
Location 9p13.3  [Link to chromosome band 9p13]
Location_base_pair Starts at 35073835 and ends at 35080013 bp from pter ( according to hg19-Feb_2009)  [Mapping FANCG.png]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2016)
FANCG (9p13.3) / FANCG (9p13.3)

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

    Note
    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).
      

    Bibliography

    Breaks at telomeres and TRF2-independent end fusions in Fanconi anemia.
    Callén E, Samper E, Ramírez MJ, Creus A, Marcos R, Ortega JJ, Olivé T, Badell I, Blasco MA, Surrallés J
    Human molecular genetics. 2002 ; 11 (4) : 439-444.
    PMID 11854176
     
    Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.
    Demuth I, Wlodarski M, Tipping AJ, Morgan NV, de Winter JP, Thiel M, Gräsl S, Schindler D, D'Andrea AD, Altay C, Kayserili H, Zatterale A, Kunze J, Ebell W, Mathew CG, Joenje H, Sperling K, Digweed M
    European journal of human genetics : EJHG. 2000 ; 8 (11) : 861-868.
    PMID 11093276
     
    Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group.
    Faivre L, Guardiola P, Lewis C, Dokal I, Ebell W, Zatterale A, Altay C, Poole J, Stones D, Kwee ML, van Weel-Sipman M, Havenga C, Morgan N, de Winter J, Digweed M, Savoia A, Pronk J, de Ravel T, Jansen S, Joenje H, Gluckman E, Mathew CG
    Blood. 2000 ; 96 (13) : 4064-4070.
    PMID 11110674
     
    The FANCG Fanconi anemia protein interacts with CYP2E1: possible role in protection against oxidative DNA damage.
    Futaki M, Igarashi T, Watanabe S, Kajigaya S, Tatsuguchi A, Wang J, Liu JM
    Carcinogenesis. 2002 ; 23 (1) : 67-72.
    PMID 11756225
     
    Fanconi anemia protein, FANCG, is a phosphoprotein and is upregulated with FANCA after TNF-alpha treatment.
    Futaki M, Watanabe S, Kajigaya S, Liu JM
    Biochemical and biophysical research communications. 2001 ; 281 (2) : 347-351.
    PMID 11181053
     
    Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway.
    Garcia-Higuera I, Taniguchi T, Ganesan S, Meyn MS, Timmers C, Hejna J, Grompe M, D'Andrea AD
    Molecular cell. 2001 ; 7 (2) : 249-262.
    PMID 11239454
     
    Fanconi anemia and DNA repair.
    Grompe M, D'Andrea A
    Human molecular genetics. 2001 ; 10 (20) : 2253-2259.
    PMID 11673408
     
    Reduced fertility and hypersensitivity to mitomycin C characterize Fancg/Xrcc9 null mice.
    Koomen M, Cheng NC, van de Vrugt HJ, Godthelp BC, van der Valk MA, Oostra AB, Zdzienicka MZ, Joenje H, Arwert F
    Human molecular genetics. 2002 ; 11 (3) : 273-281.
    PMID 11823446
     
    Carboxy terminal region of the Fanconi anemia protein, FANCG/XRCC9, is required for functional activity.
    Kuang Y, Garcia-Higuera I, Moran A, Mondoux M, Digweed M, D'Andrea AD
    Blood. 2000 ; 96 (5) : 1625-1632.
    PMID 10961856
     
    The human XRCC9 gene corrects chromosomal instability and mutagen sensitivities in CHO UV40 cells.
    Liu N, Lamerdin JE, Tucker JD, Zhou ZQ, Walter CA, Albala JS, Busch DB, Thompson LH
    Proceedings of the National Academy of Sciences of the United States of America. 1997 ; 94 (17) : 9232-9237.
    PMID 9256465
     
    Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway.
    Medhurst AL, Huber PA, Waisfisz Q, de Winter JP, Mathew CG
    Human molecular genetics. 2001 ; 10 (4) : 423-429.
    PMID 11157805
     
    Functional analysis of patient-derived mutations in the Fanconi anemia gene, FANCG/XRCC9.
    Nakanishi K, Moran A, Hays T, Kuang Y, Fox E, Garneau D, Montes de Oca R, Grompe M, D'Andrea AD
    Experimental hematology. 2001 ; 29 (7) : 842-849.
    PMID 11438206
     
    Fanconi anemia proteins localize to chromatin and the nuclear matrix in a DNA damage- and cell cycle-regulated manner.
    Qiao F, Moss A, Kupfer GM
    The Journal of biological chemistry. 2001 ; 276 (26) : 23391-23396.
    PMID 11297559
     
    A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA.
    Waisfisz Q, de Winter JP, Kruyt FA, de Groot J, van der Weel L, Dijkmans LM, Zhi Y, Arwert F, Scheper RJ, Youssoufian H, Hoatlin ME, Joenje H
    Proceedings of the National Academy of Sciences of the United States of America. 1999 ; 96 (18) : 10320-10325.
    PMID 10468606
     
    The Chinese hamster FANCG/XRCC9 mutant NM3 fails to express the monoubiquitinated form of the FANCD2 protein, is hypersensitive to a range of DNA damaging agents and exhibits a normal level of spontaneous sister chromatid exchange.
    Wilson JB, Johnson MA, Stuckert AP, Trueman KL, May S, Bryant PE, Meyn RE, D'Andrea AD, Jones NJ
    Carcinogenesis. 2001 ; 22 (12) : 1939-1946.
    PMID 11751423
     
    Current knowledge on the pathophysiology of Fanconi anemia: from genes to phenotypes.
    Yamashita T, Nakahata T
    International journal of hematology. 2001 ; 74 (1) : 33-41.
    PMID 11530803
     
    Targeted disruption of the murine Fanconi anemia gene, Fancg/Xrcc9.
    Yang Y, Kuang Y, Montes De Oca R, Hays T, Moreau L, Lu N, Seed B, D'Andrea AD
    Blood. 2001 ; 98 (12) : 3435-3440.
    PMID 11719385
     
    The Fanconi anaemia group G gene FANCG is identical with XRCC9.
    de Winter JP, Waisfisz Q, Rooimans MA, van Berkel CG, Bosnoyan-Collins L, Alon N, Carreau M, Bender O, Demuth I, Schindler D, Pronk JC, Arwert F, Hoehn H, Digweed M, Buchwald M, Joenje H
    Nature genetics. 1998 ; 20 (3) : 281-283.
    PMID 9806548
     

    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 journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Genes/FANCGID295.html


    Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 2 ]
      Fanconi anemia Familial Myeloproliferative Disorders

    External links

    Nomenclature
    HGNC (Hugo)FANCG   3588
    Cards
    AtlasFANCGID295
    Entrez_Gene (NCBI)FANCG  2189  Fanconi anemia complementation group G
    AliasesFAG; XRCC9
    GeneCards (Weizmann)FANCG
    Ensembl hg19 (Hinxton)ENSG00000221829 [Gene_View]  chr9:35073835-35080013 [Contig_View]  FANCG [Vega]
    Ensembl hg38 (Hinxton)ENSG00000221829 [Gene_View]  chr9:35073835-35080013 [Contig_View]  FANCG [Vega]
    ICGC DataPortalENSG00000221829
    TCGA cBioPortalFANCG
    AceView (NCBI)FANCG
    Genatlas (Paris)FANCG
    WikiGenes2189
    SOURCE (Princeton)FANCG
    Genomic and cartography
    GoldenPath hg19 (UCSC)FANCG  -     chr9:35073835-35080013 -  9p13   [Description]    (hg19-Feb_2009)
    GoldenPath hg38 (UCSC)FANCG  -     9p13   [Description]    (hg38-Dec_2013)
    EnsemblFANCG - 9p13 [CytoView hg19]  FANCG - 9p13 [CytoView hg38]
    Mapping of homologs : NCBIFANCG [Mapview hg19]  FANCG [Mapview hg38]
    OMIM189960   602956   614082   
    Gene and transcription
    Genbank (Entrez)AJ007669 AK293427 AK311348 AK312987 BC000032
    RefSeq transcript (Entrez)NM_004629
    RefSeq genomic (Entrez)NC_000009 NC_018920 NG_007312 NT_008413 NW_004929342
    Consensus coding sequences : CCDS (NCBI)FANCG
    Cluster EST : UnigeneHs.591084 [ NCBI ]
    CGAP (NCI)Hs.591084
    Alternative Splicing GalleryENSG00000221829
    Gene ExpressionFANCG [ NCBI-GEO ]   FANCG [ EBI - ARRAY_EXPRESS ]   FANCG [ SEEK ]   FANCG [ MEM ]
    Gene Expression Viewer (FireBrowse)FANCG [ Firebrowse - Broad ]
    SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
    GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
    BioGPS (Tissue expression)2189
    GTEX Portal (Tissue expression)FANCG
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtO15287 (Uniprot)
    NextProtO15287  [Sequence]  [Exons]  [Medical]  [Publications]
    With graphics : InterProO15287
    Splice isoforms : SwissVarO15287 (Swissvar)
    PhosPhoSitePlusO15287
    Domains : Interpro (EBI)TPR-like_helical_dom    TPR_repeat   
    Domain families : Pfam (Sanger)
    Domain families : Pfam (NCBI)
    Domain families : Smart (EMBL)TPR (SM00028)  
    DMDM Disease mutations2189
    Blocks (Seattle)FANCG
    SuperfamilyO15287
    Human Protein AtlasENSG00000221829
    Peptide AtlasO15287
    HPRD04262
    IPIIPI00005769   IPI00916449   IPI00917414   
    Protein Interaction databases
    DIP (DOE-UCLA)O15287
    IntAct (EBI)O15287
    FunCoupENSG00000221829
    BioGRIDFANCG
    STRING (EMBL)FANCG
    ZODIACFANCG
    Ontologies - Pathways
    QuickGOO15287
    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  interstrand cross-link repair  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  interstrand cross-link repair  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   
    REACTOMEO15287 [protein]
    REACTOME PathwaysR-HSA-419524 Fanconi Anemia pathway [pathway]
    NDEx NetworkFANCG
    Atlas of Cancer Signalling NetworkFANCG
    Wikipedia pathwaysFANCG
    Orthology - Evolution
    OrthoDB2189
    GeneTree (enSembl)ENSG00000221829
    Phylogenetic Trees/Animal Genes : TreeFamFANCG
    Homologs : HomoloGeneFANCG
    Homology/Alignments : Family Browser (UCSC)FANCG
    Gene fusions - Rearrangements
    Polymorphisms : SNP, variants
    NCBI Variation ViewerFANCG [hg38]
    dbSNP Single Nucleotide Polymorphism (NCBI)FANCG
    dbVarFANCG
    ClinVarFANCG
    1000_GenomesFANCG 
    Exome Variant ServerFANCG
    ExAC (Exome Aggregation Consortium)FANCG (select the gene name)
    Genetic variants : HAPMAP2189
    Genomic Variants (DGV)FANCG [DGVbeta]
    Mutations
    ICGC Data PortalFANCG 
    TCGA Data PortalFANCG 
    Broad Tumor PortalFANCG
    OASIS PortalFANCG [ Somatic mutations - Copy number]
    Cancer Gene: CensusFANCG 
    Somatic Mutations in Cancer : COSMICFANCG 
    LOVD (Leiden Open Variation Database)Whole genome datasets
    LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
    LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
    LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
    LOVD (Leiden Open Variation Database)Fanconi anemia database
    BioMutasearch FANCG
    DgiDB (Drug Gene Interaction Database)FANCG
    DoCM (Curated mutations)FANCG (select the gene name)
    CIViC (Clinical Interpretations of Variants in Cancer)FANCG (select a term)
    intoGenFANCG
    Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
    Diseases
    DECIPHER (Syndromes)9:35073835-35080013  ENSG00000221829
    CONAN: Copy Number AnalysisFANCG 
    Mutations and Diseases : HGMDFANCG
    OMIM189960    602956    614082   
    MedgenFANCG
    Genetic Testing Registry FANCG
    NextProtO15287 [Medical]
    TSGene2189
    GENETestsFANCG
    Huge Navigator FANCG [HugePedia]
    snp3D : Map Gene to Disease2189
    BioCentury BCIQFANCG
    ClinGenFANCG
    Clinical trials, drugs, therapy
    Chemical/Protein Interactions : CTD2189
    Chemical/Pharm GKB GenePA28002
    Clinical trialFANCG
    Miscellaneous
    canSAR (ICR)FANCG (select the gene name)
    Other databaseFanconi anemia mutation database
    Probes
    Litterature
    PubMed112 Pubmed reference(s) in Entrez
    GeneRIFsGene References Into Functions (Entrez)
    CoreMineFANCG
    EVEXFANCG
    GoPubMedFANCG
    iHOPFANCG
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

    Search in all EBI   NCBI

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Mon Sep 19 19:25:55 CEST 2016

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    jlhuret@AtlasGeneticsOncology.org.