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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)


XRCC9 (X-ray repair complementing defective repair 9)
HGNC Alias symbFAG
HGNC Alias nameDNA repair protein XRCC9
 X-ray repair, complementing defective, in Chinese hamster, 9
 X-ray repair complementing defective repair in Chinese hamster cells 9
HGNC Previous nameXRCC9
HGNC Previous nameFanconi anemia complementation group G
LocusID (NCBI) 2189
Atlas_Id 295
Location 9p13.3  [Link to chromosome band 9p13]
Location_base_pair Starts at 35073839 and ends at 35079942 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping FANCG.png]
  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)


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


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


    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)
  • 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).


    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


    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 ]

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

    External links


    HGNC (Hugo)FANCG   3588
    LRG (Locus Reference Genomic)LRG_499
    Atlas Explorer : (Salamanque)FANCG
    Entrez_Gene (NCBI)FANCG    FA complementation group G
    AliasesFAG; XRCC9
    GeneCards (Weizmann)FANCG
    Ensembl hg19 (Hinxton)ENSG00000221829 [Gene_View]
    Ensembl hg38 (Hinxton)ENSG00000221829 [Gene_View]  ENSG00000221829 [Sequence]  chr9:35073839-35079942 [Contig_View]  FANCG [Vega]
    ICGC DataPortalENSG00000221829
    TCGA cBioPortalFANCG
    AceView (NCBI)FANCG
    Genatlas (Paris)FANCG
    SOURCE (Princeton)FANCG
    Genetics Home Reference (NIH)FANCG
    Genomic and cartography
    GoldenPath hg38 (UCSC)FANCG  -     chr9:35073839-35079942 -  9p13.3   [Description]    (hg38-Dec_2013)
    GoldenPath hg19 (UCSC)FANCG  -     9p13.3   [Description]    (hg19-Feb_2009)
    GoldenPathFANCG - 9p13.3 [CytoView hg19]  FANCG - 9p13.3 [CytoView hg38]
    Genome Data Viewer NCBIFANCG [Mapview hg19]  
    OMIM602956   614082   
    Gene and transcription
    Genbank (Entrez)AJ007669 AK293427 AK311348 AK312987 BC000032
    RefSeq transcript (Entrez)NM_004629
    Consensus coding sequences : CCDS (NCBI)FANCG
    Gene ExpressionFANCG [ NCBI-GEO ]   FANCG [ EBI - ARRAY_EXPRESS ]   FANCG [ SEEK ]   FANCG [ MEM ]
    Gene Expression Viewer (FireBrowse)FANCG [ Firebrowse - Broad ]
    GenevisibleExpression of FANCG in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
    BioGPS (Tissue expression)2189
    GTEX Portal (Tissue expression)FANCG
    Human Protein AtlasENSG00000221829-FANCG [pathology]   [cell]   [tissue]
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtO15287   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
    NextProtO15287  [Sequence]  [Exons]  [Medical]  [Publications]
    With graphics : InterProO15287
    Domains : Interpro (EBI)FANCG    TPR-like_helical_dom_sf    TPR_repeat   
    Domain families : Pfam (Sanger)
    Domain families : Pfam (NCBI)
    Domain families : Smart (EMBL)TPR (SM00028)  
    Conserved Domain (NCBI)FANCG
    AlphaFold pdb e-kbO15287   
    Human Protein Atlas [tissue]ENSG00000221829-FANCG [tissue]
    Protein Interaction databases
    DIP (DOE-UCLA)O15287
    IntAct (EBI)O15287
    Ontologies - Pathways
    Ontology : AmiGOchromatin  ovarian follicle development  damaged DNA binding  protein binding  nucleoplasm  nucleolus  mitochondrion  cytosol  plasma membrane  DNA repair  protein monoubiquitination  cellular response to DNA damage stimulus  mitochondrion organization  spermatid development  response to radiation  Fanconi anaemia nuclear complex  Fanconi anaemia nuclear complex  
    Ontology : EGO-EBIchromatin  ovarian follicle development  damaged DNA binding  protein binding  nucleoplasm  nucleolus  mitochondrion  cytosol  plasma membrane  DNA repair  protein monoubiquitination  cellular response to DNA damage stimulus  mitochondrion organization  spermatid development  response to radiation  Fanconi anaemia nuclear complex  Fanconi anaemia nuclear complex  
    REACTOMEO15287 [protein]
    REACTOME PathwaysR-HSA-6783310 [pathway]   
    NDEx NetworkFANCG
    Atlas of Cancer Signalling NetworkFANCG
    Wikipedia pathwaysFANCG
    Orthology - Evolution
    GeneTree (enSembl)ENSG00000221829
    Phylogenetic Trees/Animal Genes : TreeFamFANCG
    Homologs : HomoloGeneFANCG
    Homology/Alignments : Family Browser (UCSC)FANCG
    Gene fusions - Rearrangements
    Fusion : FusionHubFANCG--CAPN2    FANCG--FANCG    FANCG--VCP    SFXN3--FANCG   
    Fusion : QuiverFANCG
    Polymorphisms : SNP and Copy number variants
    NCBI Variation ViewerFANCG [hg38]
    dbSNP Single Nucleotide Polymorphism (NCBI)FANCG
    Exome Variant ServerFANCG
    GNOMAD BrowserENSG00000221829
    Varsome BrowserFANCG
    ACMGFANCG variants
    Genomic Variants (DGV)FANCG [DGVbeta]
    DECIPHERFANCG [patients]   [syndromes]   [variants]   [genes]  
    CONAN: Copy Number AnalysisFANCG 
    ICGC Data PortalFANCG 
    TCGA Data PortalFANCG 
    Broad Tumor PortalFANCG
    OASIS PortalFANCG [ Somatic mutations - Copy number]
    Cancer Gene: CensusFANCG 
    Somatic Mutations in Cancer : COSMICFANCG  [overview]  [genome browser]  [tissue]  [distribution]  
    Somatic Mutations in Cancer : COSMIC3DFANCG
    Mutations and Diseases : HGMDFANCG
    LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
    DgiDB (Drug Gene Interaction Database)FANCG
    DoCM (Curated mutations)FANCG
    CIViC (Clinical Interpretations of Variants in Cancer)FANCG
    NCG (London)FANCG
    Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
    OMIM602956    614082   
    Genetic Testing Registry FANCG
    NextProtO15287 [Medical]
    Target ValidationFANCG
    Huge Navigator FANCG [HugePedia]
    Clinical trials, drugs, therapy
    Protein Interactions : CTDFANCG
    Pharm GKB GenePA28002
    Clinical trialFANCG
    DataMed IndexFANCG
    Other databaseFanconi anemia mutation database
    PubMed144 Pubmed reference(s) in Entrez
    GeneRIFsGene References Into Functions (Entrez)
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

    Search in all EBI   NCBI

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    indexed on : Thu Jan 20 14:07:11 CET 2022

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