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FANCF (Fanconi anemia, complementation group F)

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)


HGNC Alias symbFAF
HGNC Previous nameFanconi anemia complementation group F
LocusID (NCBI) 2188
Atlas_Id 294
Location 11p14.3  [Link to chromosome band 11p14]
Location_base_pair Starts at 22622533 and ends at 22625823 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping FANCF.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)
CC2D2A (4p15.32)::FANCF (11p14.3)


Description 1 exon; 1124 bp open reading frame


Description 374 amino acids ; 42 kDa
Expression weak;
Localisation predominantly nuclear
Function part of the FA complex with FANCA, FANCC, FANCE, 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, 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 ROM (prokaryote)

    Implicated in

    Entity Fanconi anaemia (FA); FANCF is implicated in the FA complementation group F; it represents about 2-3% 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. 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
    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
    Correction of cross-linker sensitivity of Fanconi anemia group F cells by CD33-mediated protein transfer.
    Holmes RK, Harutyunyan K, Shah M, Joenje H, Youssoufian H
    Blood. 2001 ; 98 (13) : 3817-3822.
    PMID 11739191
    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
    Function of the Fanconi anemia pathway in Fanconi anemia complementation group F and D1 cells.
    Siddique MA, Nakanishi K, Taniguchi T, Grompe M, D'Andrea AD
    Experimental hematology. 2001 ; 29 (12) : 1448-1455.
    PMID 11750104
    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
    The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG.
    de Winter JP, van der Weel L, de Groot J, Stone S, Waisfisz Q, Arwert F, Scheper RJ, Kruyt FA, Hoatlin ME, Joenje H
    Human molecular genetics. 2000 ; 9 (18) : 2665-2674.
    PMID 11063725


    This paper should be referenced as such :
    Huret, JL
    FANCF (Fanconi anemia, complementation group F)
    Atlas Genet Cytogenet Oncol Haematol. 2002;6(4):281-282.
    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)FANCF   3587
    LRG (Locus Reference Genomic)LRG_527
    Atlas Explorer : (Salamanque)FANCF
    Entrez_Gene (NCBI)FANCF    FA complementation group F
    GeneCards (Weizmann)FANCF
    Ensembl hg19 (Hinxton)ENSG00000183161 [Gene_View]
    Ensembl hg38 (Hinxton)ENSG00000183161 [Gene_View]  ENSG00000183161 [Sequence]  chr11:22622533-22625823 [Contig_View]  FANCF [Vega]
    ICGC DataPortalENSG00000183161
    TCGA cBioPortalFANCF
    AceView (NCBI)FANCF
    Genatlas (Paris)FANCF
    SOURCE (Princeton)FANCF
    Genetics Home Reference (NIH)FANCF
    Genomic and cartography
    GoldenPath hg38 (UCSC)FANCF  -     chr11:22622533-22625823 -  11p14.3   [Description]    (hg38-Dec_2013)
    GoldenPath hg19 (UCSC)FANCF  -     11p14.3   [Description]    (hg19-Feb_2009)
    GoldenPathFANCF - 11p14.3 [CytoView hg19]  FANCF - 11p14.3 [CytoView hg38]
    Genome Data Viewer NCBIFANCF [Mapview hg19]  
    OMIM603467   613897   
    Gene and transcription
    Genbank (Entrez)AF181994 AF181995 AK001716 AK023153 AK223277
    RefSeq transcript (Entrez)NM_022725
    Consensus coding sequences : CCDS (NCBI)FANCF
    Gene ExpressionFANCF [ NCBI-GEO ]   FANCF [ EBI - ARRAY_EXPRESS ]   FANCF [ SEEK ]   FANCF [ MEM ]
    Gene Expression Viewer (FireBrowse)FANCF [ Firebrowse - Broad ]
    GenevisibleExpression of FANCF in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
    BioGPS (Tissue expression)2188
    GTEX Portal (Tissue expression)FANCF
    Human Protein AtlasENSG00000183161-FANCF [pathology]   [cell]   [tissue]
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtQ9NPI8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
    NextProtQ9NPI8  [Sequence]  [Exons]  [Medical]  [Publications]
    With graphics : InterProQ9NPI8
    Domains : Interpro (EBI)FANCF    FANCF_C_sf   
    Domain families : Pfam (Sanger)FANCF (PF11107)   
    Domain families : Pfam (NCBI)pfam11107   
    Conserved Domain (NCBI)FANCF
    PDB (RSDB)2IQC   
    PDB Europe2IQC   
    PDB (PDBSum)2IQC   
    PDB (IMB)2IQC   
    Structural Biology KnowledgeBase2IQC   
    SCOP (Structural Classification of Proteins)2IQC   
    CATH (Classification of proteins structures)2IQC   
    AlphaFold pdb e-kbQ9NPI8   
    Human Protein Atlas [tissue]ENSG00000183161-FANCF [tissue]
    Protein Interaction databases
    IntAct (EBI)Q9NPI8
    Ontologies - Pathways
    Ontology : AmiGOchromatin  molecular_function  protein binding  nucleoplasm  nucleoplasm  protein monoubiquitination  cellular response to DNA damage stimulus  biological_process  Fanconi anaemia nuclear complex  Fanconi anaemia nuclear complex  
    Ontology : EGO-EBIchromatin  molecular_function  protein binding  nucleoplasm  nucleoplasm  protein monoubiquitination  cellular response to DNA damage stimulus  biological_process  Fanconi anaemia nuclear complex  Fanconi anaemia nuclear complex  
    REACTOMEQ9NPI8 [protein]
    REACTOME PathwaysR-HSA-6783310 [pathway]   
    NDEx NetworkFANCF
    Atlas of Cancer Signalling NetworkFANCF
    Wikipedia pathwaysFANCF
    Orthology - Evolution
    GeneTree (enSembl)ENSG00000183161
    Phylogenetic Trees/Animal Genes : TreeFamFANCF
    Homologs : HomoloGeneFANCF
    Homology/Alignments : Family Browser (UCSC)FANCF
    Gene fusions - Rearrangements
    Fusion : FusionHubCC2D2A--FANCF    DSG2--FANCF   
    Fusion : QuiverFANCF
    Polymorphisms : SNP and Copy number variants
    NCBI Variation ViewerFANCF [hg38]
    dbSNP Single Nucleotide Polymorphism (NCBI)FANCF
    Exome Variant ServerFANCF
    GNOMAD BrowserENSG00000183161
    Varsome BrowserFANCF
    ACMGFANCF variants
    Genomic Variants (DGV)FANCF [DGVbeta]
    DECIPHERFANCF [patients]   [syndromes]   [variants]   [genes]  
    CONAN: Copy Number AnalysisFANCF 
    ICGC Data PortalFANCF 
    TCGA Data PortalFANCF 
    Broad Tumor PortalFANCF
    OASIS PortalFANCF [ Somatic mutations - Copy number]
    Cancer Gene: CensusFANCF 
    Somatic Mutations in Cancer : COSMICFANCF  [overview]  [genome browser]  [tissue]  [distribution]  
    Somatic Mutations in Cancer : COSMIC3DFANCF
    Mutations and Diseases : HGMDFANCF
    LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
    DgiDB (Drug Gene Interaction Database)FANCF
    DoCM (Curated mutations)FANCF
    CIViC (Clinical Interpretations of Variants in Cancer)FANCF
    NCG (London)FANCF
    Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
    OMIM603467    613897   
    Genetic Testing Registry FANCF
    NextProtQ9NPI8 [Medical]
    Target ValidationFANCF
    Huge Navigator FANCF [HugePedia]
    Clinical trials, drugs, therapy
    Protein Interactions : CTDFANCF
    Pharm GKB GenePA28001
    Clinical trialFANCF
    DataMed IndexFANCF
    Other databaseFanconi anemia mutation database
    PubMed77 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

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Thu Jan 20 14:07:10 CET 2022

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