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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret jlhuret@AtlasGeneticsOncology.org
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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 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
    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]
    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 ]
    SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtO15287 (Uniprot)
    NextProtO15287  [Medical]
    With graphics : InterProO15287
    Splice isoforms : SwissVarO15287 (Swissvar)
    Domains : Interpro (EBI)TPR-like_helical    TPR_1    TPR_repeat   
    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
    Peptide AtlasO15287
    HPRD04262
    IPIIPI00005769   IPI00916449   IPI00917414   
    Protein Interaction databases
    DIP (DOE-UCLA)O15287
    IntAct (EBI)O15287
    FunCoupENSG00000221829
    BioGRIDFANCG
    IntegromeDBFANCG
    STRING (EMBL)FANCG
    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  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   
    REACTOMEO15287 [protein]
    REACTOME PathwaysREACT_216 DNA Repair [pathway]
    Protein Interaction DatabaseFANCG
    DoCM (Curated mutations)FANCG
    Wikipedia pathwaysFANCG
    Gene fusion - rearrangements
    Polymorphisms : SNP, variants
    NCBI Variation ViewerFANCG [hg38]
    dbSNP Single Nucleotide Polymorphism (NCBI)FANCG
    dbVarFANCG
    ClinVarFANCG
    1000_GenomesFANCG 
    Exome Variant ServerFANCG
    SNP (GeneSNP Utah)FANCG
    SNP : HGBaseFANCG
    Genetic variants : HAPMAPFANCG
    Genomic Variants (DGV)FANCG [DGVbeta]
    Mutations
    ICGC Data PortalENSG00000221829 
    Cancer Gene: CensusFANCG 
    Somatic Mutations in Cancer : COSMICFANCG 
    CONAN: Copy Number AnalysisFANCG 
    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
    Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
    Diseases
    DECIPHER (Syndromes)9:35073835-35080013
    Mutations and Diseases : HGMDFANCG
    OMIM602956    614082   
    MedgenFANCG
    NextProtO15287 [Medical]
    GENETestsFANCG
    Disease Genetic AssociationFANCG
    Huge Navigator FANCG [HugePedia]  FANCG [HugeCancerGEM]
    snp3D : Map Gene to Disease2189
    DGIdb (Drug Gene Interaction db)FANCG
    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
    GoPubMedFANCG
    iHOPFANCG

    Bibliography

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    Proceedings of the National Academy of Sciences of the United States of America. 1997 ; 94 (17) : 9232-9237.
    PMID 9256465
     
    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
     
    Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex.
    Garcia-Higuera I, Kuang Y, Nˆ§f D, Wasik J, D'Andrea AD
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    PMID 10468606
     
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    Blood. 2000 ; 96 (13) : 4064-4070.
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    Carboxy terminal region of the Fanconi anemia protein, FANCG/XRCC9, is required for functional activity.
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    PMID 10961856
     
    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
     
    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
     
    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
     
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    International journal of hematology. 2001 ; 74 (1) : 33-41.
    PMID 11530803
     
    Targeted disruption of the murine Fanconi anemia gene, Fancg/Xrcc9.
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    Blood. 2001 ; 98 (12) : 3435-3440.
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    Breaks at telomeres and TRF2-independent end fusions in Fanconi anemia.
    Callˆ©n E, Samper E, Ramˆ‚rez MJ, Creus A, Marcos R, Ortega JJ, Olivˆ© T, Badell I, Blasco MA, Surrallˆ©s J
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    The FANCG Fanconi anemia protein interacts with CYP2E1: possible role in protection against oxidative DNA damage.
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    Carcinogenesis. 2002 ; 23 (1) : 67-72.
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    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
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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 journal version : [ pdf ]   [ DOI ]
    URL : http://AtlasGeneticsOncology.org/Genes/FANCGID295.html

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    indexed on : Tue Feb 17 20:14:54 CET 2015
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