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FANCD2 (Fanconi anemia, complementation group D2)

Written2002-06Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
This article is an update of :
1998-04Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


HGNC Alias symbFAD
HGNC Previous nameFACD
HGNC Previous nameFanconi anemia complementation group D2
LocusID (NCBI) 2177
Atlas_Id 103
Location 3p25.3  [Link to chromosome band 3p25]
Location_base_pair Starts at 10026437 and ends at 10099343 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping FANCD2.png]
Local_order not far from XPC, in 3p25
  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)
BRK1 (3p25.3) / FANCD2 (3p25.3)FANCD2 (3p25.3) / CMTM6 (3p22.3)FANCD2 (3p25.3) / MTMR14 (3p25.3)
PCNX1 (14q24.2) / FANCD2 (3p25.3)RAD18 (3p25.3) / FANCD2 (3p25.3)


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).


    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
    Molecular biology of Fanconi anemia: implications for diagnosis and therapy.
    D'Andrea AD, Grompe M
    Blood. 1997 ; 90 (5) : 1725-1736.
    PMID 9292505
    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
    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
    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
    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
    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
    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
    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


    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 journal version : [ pdf ]   [ DOI ]
    History of this paper:
    Huret, JL. FAD (Fanconi anaemia group D). Atlas Genet Cytogenet Oncol Haematol. 1998;2(3):83-83.

    Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
      Therapy-Related Hematopoietic Neoplasia

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

    External links

    HGNC (Hugo)FANCD2   3585
    LRG (Locus Reference Genomic)LRG_306
    Entrez_Gene (NCBI)FANCD2    FA complementation group D2
    AliasesFA-D2; FA4; FACD; FAD; 
    GeneCards (Weizmann)FANCD2
    Ensembl hg19 (Hinxton)ENSG00000144554 [Gene_View]
    Ensembl hg38 (Hinxton)ENSG00000144554 [Gene_View]  ENSG00000144554 [Sequence]  chr3:10026437-10099343 [Contig_View]  FANCD2 [Vega]
    ICGC DataPortalENSG00000144554
    TCGA cBioPortalFANCD2
    AceView (NCBI)FANCD2
    Genatlas (Paris)FANCD2
    SOURCE (Princeton)FANCD2
    Genetics Home Reference (NIH)FANCD2
    Genomic and cartography
    GoldenPath hg38 (UCSC)FANCD2  -     chr3:10026437-10099343 +  3p25.3   [Description]    (hg38-Dec_2013)
    GoldenPath hg19 (UCSC)FANCD2  -     3p25.3   [Description]    (hg19-Feb_2009)
    GoldenPathFANCD2 - 3p25.3 [CytoView hg19]  FANCD2 - 3p25.3 [CytoView hg38]
    genome Data Viewer NCBIFANCD2 [Mapview hg19]  
    OMIM227646   613984   
    Gene and transcription
    Genbank (Entrez)AF230336 AF340183 AK022613 AK074406 AK307512
    RefSeq transcript (Entrez)NM_001018115 NM_001319984 NM_001374253 NM_001374254 NM_001374255 NM_033084
    Consensus coding sequences : CCDS (NCBI)FANCD2
    Alternative Splicing GalleryENSG00000144554
    Gene ExpressionFANCD2 [ NCBI-GEO ]   FANCD2 [ EBI - ARRAY_EXPRESS ]   FANCD2 [ SEEK ]   FANCD2 [ MEM ]
    Gene Expression Viewer (FireBrowse)FANCD2 [ Firebrowse - Broad ]
    GenevisibleExpression of FANCD2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
    BioGPS (Tissue expression)2177
    GTEX Portal (Tissue expression)FANCD2
    Human Protein AtlasENSG00000144554-FANCD2 [pathology]   [cell]   [tissue]
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtQ9BXW9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
    NextProtQ9BXW9  [Sequence]  [Exons]  [Medical]  [Publications]
    With graphics : InterProQ9BXW9
    Domains : Interpro (EBI)FANCD2   
    Domain families : Pfam (Sanger)FancD2 (PF14631)   
    Domain families : Pfam (NCBI)pfam14631   
    Conserved Domain (NCBI)FANCD2
    PDB (RSDB)6VAA    6VAD    6VAE    6VAF   
    PDB Europe6VAA    6VAD    6VAE    6VAF   
    PDB (PDBSum)6VAA    6VAD    6VAE    6VAF   
    PDB (IMB)6VAA    6VAD    6VAE    6VAF   
    Structural Biology KnowledgeBase6VAA    6VAD    6VAE    6VAF   
    SCOP (Structural Classification of Proteins)6VAA    6VAD    6VAE    6VAF   
    CATH (Classification of proteins structures)6VAA    6VAD    6VAE    6VAF   
    AlphaFold pdb e-kbQ9BXW9   
    Human Protein Atlas [tissue]ENSG00000144554-FANCD2 [tissue]
    Protein Interaction databases
    IntAct (EBI)Q9BXW9
    Ontologies - Pathways
    Ontology : AmiGOcondensed chromosome  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  nucleolus  cytosol  homologous chromosome pairing at meiosis  response to gamma radiation  nuclear body  mitotic intra-S DNA damage checkpoint signaling  interstrand cross-link repair  interstrand cross-link repair  DNA polymerase binding  DNA polymerase binding  double-strand break repair involved in meiotic recombination  
    Ontology : EGO-EBIcondensed chromosome  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  nucleolus  cytosol  homologous chromosome pairing at meiosis  response to gamma radiation  nuclear body  mitotic intra-S DNA damage checkpoint signaling  interstrand cross-link repair  interstrand cross-link repair  DNA polymerase binding  DNA polymerase binding  double-strand break repair involved in meiotic recombination  
    Pathways : BIOCARTABRCA1-dependent Ub-ligase activity [Genes]    Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility [Genes]   
    Pathways : KEGGFanconi anemia pathway   
    REACTOMEQ9BXW9 [protein]
    REACTOME PathwaysR-HSA-6796648 [pathway]   
    NDEx NetworkFANCD2
    Atlas of Cancer Signalling NetworkFANCD2
    Wikipedia pathwaysFANCD2
    Orthology - Evolution
    GeneTree (enSembl)ENSG00000144554
    Phylogenetic Trees/Animal Genes : TreeFamFANCD2
    Homologs : HomoloGeneFANCD2
    Homology/Alignments : Family Browser (UCSC)FANCD2
    Gene fusions - Rearrangements
    Fusion : MitelmanFANCD2/MTMR14 [3p25.3/3p25.3]  
    Fusion PortalFANCD2 3p25.3 MTMR14 3p25.3 BRCA
    Fusion : QuiverFANCD2
    Polymorphisms : SNP and Copy number variants
    NCBI Variation ViewerFANCD2 [hg38]
    dbSNP Single Nucleotide Polymorphism (NCBI)FANCD2
    Exome Variant ServerFANCD2
    GNOMAD BrowserENSG00000144554
    Varsome BrowserFANCD2
    Genomic Variants (DGV)FANCD2 [DGVbeta]
    DECIPHERFANCD2 [patients]   [syndromes]   [variants]   [genes]  
    CONAN: Copy Number AnalysisFANCD2 
    ICGC Data PortalFANCD2 
    TCGA Data PortalFANCD2 
    Broad Tumor PortalFANCD2
    OASIS PortalFANCD2 [ Somatic mutations - Copy number]
    Cancer Gene: CensusFANCD2 
    Somatic Mutations in Cancer : COSMICFANCD2  [overview]  [genome browser]  [tissue]  [distribution]  
    Somatic Mutations in Cancer : COSMIC3DFANCD2
    Mutations and Diseases : HGMDFANCD2
    LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
    BioMutasearch FANCD2
    DgiDB (Drug Gene Interaction Database)FANCD2
    DoCM (Curated mutations)FANCD2 (select the gene name)
    CIViC (Clinical Interpretations of Variants in Cancer)FANCD2 (select a term)
    NCG6 (London) select FANCD2
    Cancer3DFANCD2(select the gene name)
    Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
    OMIM227646    613984   
    Genetic Testing Registry FANCD2
    NextProtQ9BXW9 [Medical]
    Target ValidationFANCD2
    Huge Navigator FANCD2 [HugePedia]
    Clinical trials, drugs, therapy
    Protein Interactions : CTDFANCD2
    Pharm GKB GenePA27999
    Clinical trialFANCD2
    canSAR (ICR)FANCD2
    DataMed IndexFANCD2
    Other databaseFanconi anemia mutation database
    PubMed287 Pubmed reference(s) in Entrez
    GeneRIFsGene References Into Functions (Entrez)
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

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    indexed on : Wed Sep 15 23:45:06 CEST 2021

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