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FANCD2 (Fanconi anemia, complementation group D2)


Other namesFAD
LocusID (NCBI) 2177
Location 3p25.3
Location_base_pair Starts at 10068113 and ends at 10143614 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order not far from XPC, in 3p25
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics


Description 44 exons; 4356 bp open reading frame; the first exon is non-coding.


Description 1452 amino acids; 155 kDa (FANCD2-S isoform, for short), and 162 kDa (FANCD2-L isoform, for long) by ubiquitin addition
Expression weak
Localisation nucleus
Function the FA complex is comprised of : FANCA, FANCC, FANCE, FANCF, and FANCG; 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 (i.e. FANCD2-L), 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 (FANCD2-S).
  • FANCD2co-localizes with BRCA1 in DNA damaged-induced loci and in the synaptonemal complex of meotic chromosomes as well.
  • Homology significant homologies can be found with proteins from various species

    Implicated in

    Entity Fanconi anaemia (FA); FANCD2 is implicated in the FA complementation group D, a heterogeneous group, with at least 2 genes: FANCD2, and a yet undiscovered FANCD1. FA complementation group D represents about 1% of FA cases. In FA complementation group D patients, the FA complex is normal, in contrast with results found in group A, B (with a yet unknown gene), C, E, F, and G patients.
    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. Patients from the rare groups FA-D, FA-E, and FA-F had somatic abnormalities more frequently.
  • 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

    HGNC (Hugo)FANCD2   3585
    Entrez_Gene (NCBI)FANCD2  2177  Fanconi anemia, complementation group D2
    GeneCards (Weizmann)FANCD2
    Ensembl (Hinxton)ENSG00000144554 [Gene_View]  chr3:10068113-10143614 [Contig_View]  FANCD2 [Vega]
    ICGC DataPortalENSG00000144554
    AceView (NCBI)FANCD2
    Genatlas (Paris)FANCD2
    SOURCE (Princeton)NM_001018115 NM_033084
    Genomic and cartography
    GoldenPath (UCSC)FANCD2  -  3p25.3   chr3:10068113-10143614 +  3p25.3   [Description]    (hg19-Feb_2009)
    EnsemblFANCD2 - 3p25.3 [CytoView]
    Mapping of homologs : NCBIFANCD2 [Mapview]
    OMIM227646   613984   
    Gene and transcription
    Genbank (Entrez)AF230336 AF340183 AK022613 AK074406 AK307512
    RefSeq transcript (Entrez)NM_001018115 NM_033084
    RefSeq genomic (Entrez)AC_000135 NC_000003 NC_018914 NG_007311 NT_022517 NW_001838876 NW_004929309
    Consensus coding sequences : CCDS (NCBI)FANCD2
    Cluster EST : UnigeneHs.208388 [ NCBI ]
    CGAP (NCI)Hs.208388
    Alternative Splicing : Fast-db (Paris)GSHG0020576
    Alternative Splicing GalleryENSG00000144554
    Gene ExpressionFANCD2 [ NCBI-GEO ]     FANCD2 [ SEEK ]   FANCD2 [ MEM ]
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtQ9BXW9 (Uniprot)
    NextProtQ9BXW9  [Medical]
    With graphics : InterProQ9BXW9
    Splice isoforms : SwissVarQ9BXW9 (Swissvar)
    Domains : Interpro (EBI)FANCD2 [organisation]  
    Related proteins : CluSTrQ9BXW9
    Domain families : Pfam (Sanger)FancD2 (PF14631)   
    Domain families : Pfam (NCBI)pfam14631   
    DMDM Disease mutations2177
    Blocks (Seattle)Q9BXW9
    Human Protein AtlasENSG00000144554 [gene] [tissue] [antibody] [cell] [cancer]
    Peptide AtlasQ9BXW9
    IPIIPI00075081   IPI00604399   IPI00604576   IPI00604753   IPI00925969   IPI00925767   
    Protein Interaction databases
    IntAct (EBI)Q9BXW9
    Interologous Interaction database Q9BXW9
    Ontologies - Pathways
    Ontology : AmiGOcondensed chromosome  protein binding  nucleus  nucleoplasm  nucleolus  Golgi apparatus  DNA repair  synapsis  gamete generation  response to gamma radiation  intracellular membrane-bounded organelle  DNA polymerase binding  
    Ontology : EGO-EBIcondensed chromosome  protein binding  nucleus  nucleoplasm  nucleolus  Golgi apparatus  DNA repair  synapsis  gamete generation  response to gamma radiation  intracellular membrane-bounded organelle  DNA polymerase binding  
    Pathways : BIOCARTABRCA1-dependent Ub-ligase activity [Genes]    Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility [Genes]   
    Pathways : KEGGFanconi anemia pathway   
    Protein Interaction DatabaseFANCD2
    Wikipedia pathwaysFANCD2
    Gene fusion - rearrangments
    Polymorphisms : SNP, mutations, diseases
    SNP Single Nucleotide Polymorphism (NCBI)FANCD2
    snp3D : Map Gene to Disease2177
    SNP (GeneSNP Utah)FANCD2
    SNP : HGBaseFANCD2
    Genetic variants : HAPMAPFANCD2
    Exome VariantFANCD2
    ICGC programENSG00000144554 
    Cancer Gene: CensusFANCD2 
    Somatic Mutations in Cancer : COSMICFANCD2 
    CONAN: Copy Number AnalysisFANCD2 
    Mutations and Diseases : HGMDFANCD2
    Mutations and Diseases : intOGenFANCD2
    Genomic VariantsFANCD2  FANCD2 [DGVbeta]
    Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
    Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
    OMIM227646    613984   
    Disease Genetic AssociationFANCD2
    Huge Navigator FANCD2 [HugePedia]  FANCD2 [HugeCancerGEM]
    General knowledge
    Homologs : HomoloGeneFANCD2
    Homology/Alignments : Family Browser (UCSC)FANCD2
    Phylogenetic Trees/Animal Genes : TreeFamFANCD2
    Chemical/Protein Interactions : CTD2177
    Chemical/Pharm GKB GenePA27999
    Clinical trialFANCD2
    Cancer Resource (Charite)ENSG00000144554
    Other databases
    Other databaseFanconi anemia mutation database
    ProbeCancer Cytogenetics (Bari)
    PubMed152 Pubmed reference(s) in Entrez


    Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p.
    Whitney M, Thayer M, Reifsteck C, Olson S, Smith L, Jakobs PM, Leach R, Naylor S, Joenje H, Grompe M
    Nature genetics. 1995 ; 11 (3) : 341-343.
    PMID 7581463
    Molecular biology of Fanconi anemia: implications for diagnosis and therapy.
    D'Andrea AD, Grompe M
    Blood. 1997 ; 90 (5) : 1725-1736.
    PMID 9292505
    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
    Molecular and cellular biology. 1999 ; 19 (7) : 4866-4873.
    PMID 10373536
    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
    Localization of the Fanconi anemia complementation group D gene to a 200-kb region on chromosome 3p25.3.
    Hejna JA, Timmers CD, Reifsteck C, Bruun DA, Lucas LW, Jakobs PM, Toth-Fejel S, Unsworth N, Clemens SL, Garcia DK, Naylor SL, Thayer MJ, Olson SB, Grompe M, Moses RE
    American journal of human genetics. 2000 ; 66 (5) : 1540-1551.
    PMID 10762542
    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
    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
    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
    Positional cloning of a novel Fanconi anemia gene, FANCD2.
    Timmers C, Taniguchi T, Hejna J, Reifsteck C, Lucas L, Bruun D, Thayer M, Cox B, Olson S, D'Andrea AD, Moses R, Grompe M
    Molecular cell. 2001 ; 7 (2) : 241-248.
    PMID 11239453
    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
    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
    Human molecular genetics. 2002 ; 11 (4) : 439-444.
    PMID 11854176
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

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    Written04-1998Jean-Loup Huret
    Updated06-2002Jean-Loup Huret


    This paper should be referenced as such :
    Huret, JL
    FANCD2 (Fanconi anemia, complementation group D2)
    Atlas Genet Cytogenet Oncol Haematol. 2002;6(4):277-278.
    Free online version   Free pdf version   [Bibliographic record ]
    History of this paper:
    Huret, JL. FANCD2 (Fanconi anemia, complementation group D2). Atlas Genet Cytogenet Oncol Haematol. 2002;6(4):277-278.
    URL :

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    indexed on : Tue Aug 26 15:24:29 CEST 2014

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