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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 aliasFAG
XRCC9 (X-ray repair complementing defective repair 9)
LocusID (NCBI) 2189
Atlas_Id 295
Location 9p13.3  [Link to chromosome band 9p13]
Location_base_pair Starts at and ends at bp from pter
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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) [ 1 ]
      Fanconi anemia


    External links

    Nomenclature
    Cards
    AtlasFANCGID295.txt
    Aliases
    Genomic and cartography
    Gene and transcription
    RefSeq transcript (Entrez)
    RefSeq genomic (Entrez)
    SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
    BioGPS (Tissue expression)2189
    Protein : pattern, domain, 3D structure
    Domain families : Pfam (Sanger)
    Domain families : Pfam (NCBI)
    Protein Interaction databases
    Ontologies - Pathways
    Clinical trials, drugs, therapy
    Miscellaneous
    canSAR (ICR) (select the gene name)
    Other databaseFanconi anemia mutation database
    Probes
    Litterature
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed


    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Thu Oct 18 17:36:06 CEST 2018

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