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FANCE (Fanconi anemia, complementation group E)

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)

Identity

Alias_namesFACE
Alias_symbol (synonym)FAE
Other alias
HGNC (Hugo) FANCE
LocusID (NCBI) 2178
Atlas_Id 293
Location 6p21.31  [Link to chromosome band 6p21]
Location_base_pair Starts at 35452361 and ends at 35467104 bp from pter ( according to hg19-Feb_2009)  [Mapping FANCE.png]
Local_order located between the 60S ribosomal protein RPL10Aand a ZNF127 like protein
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics

DNA/RNA

Description the gene spans 15 kb and contains 10 exons;1611 bp open reading frame

Protein

Description 536 amino acids, 60 kDa; contains two potential nuclear localization signals
Function part of the FA complex with FANCA, FANCC, 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, 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

    Implicated in

    Note
      
    Entity Fanconi anaemia (FA); FANCE is implicated in the FA complementation group E; it represents about 2% of FA cases
    Disease Fanconi anaemia is a chromosome instability syndrome/cancer prone disease (at risk of leukaemia)
    Prognosis Fanconi anaemia's prognosis is poor; mean survival is 20 years (depending on mutation, treatment): patients die of bone marrow failure (infections, haemorrhages), leukaemia, or androgen therapy related liver tumours
  • 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 spontaneous,chromatid/chromosome breaks; increased rate of breaks compared to control, when induced by breaking agent
      

    Bibliography

    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
     
    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
     
    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
     
    Isolation of a cDNA representing the Fanconi anemia complementation group E gene.
    de Winter JP, Léveillé F, van Berkel CG, Rooimans MA, van Der Weel L, Steltenpool J, Demuth I, Morgan NV, Alon N, Bosnoyan-Collins L, Lightfoot J, Leegwater PA, Waisfisz Q, Komatsu K, Arwert F, Pronk JC, Mathew CG, Digweed M, Buchwald M, Joenje H
    American journal of human genetics. 2000 ; 67 (5) : 1306-1308.
    PMID 11001585
     

    Citation

    This paper should be referenced as such :
    Huret, JL
    FANCE (Fanconi anemia, complementation group E)
    Atlas Genet Cytogenet Oncol Haematol. 2002;6(4):279-280.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Genes/FANCEID293.html

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

    External links

    Nomenclature
    HGNC (Hugo)FANCE   3586
    LRG (Locus Reference Genomic)LRG_498
    Cards
    AtlasFANCEID293
    Entrez_Gene (NCBI)FANCE  2178  Fanconi anemia complementation group E
    AliasesFACE; FAE
    GeneCards (Weizmann)FANCE
    Ensembl hg19 (Hinxton)ENSG00000112039 [Gene_View]
    Ensembl hg38 (Hinxton)ENSG00000112039 [Gene_View]  chr6:35452361-35467104 [Contig_View]  FANCE [Vega]
    ICGC DataPortalENSG00000112039
    TCGA cBioPortalFANCE
    AceView (NCBI)FANCE
    Genatlas (Paris)FANCE
    WikiGenes2178
    SOURCE (Princeton)FANCE
    Genetics Home Reference (NIH)FANCE
    Genomic and cartography
    GoldenPath hg38 (UCSC)FANCE  -     chr6:35452361-35467104 +  6p21.31   [Description]    (hg38-Dec_2013)
    GoldenPath hg19 (UCSC)FANCE  -     6p21.31   [Description]    (hg19-Feb_2009)
    EnsemblFANCE - 6p21.31 [CytoView hg19]  FANCE - 6p21.31 [CytoView hg38]
    Mapping of homologs : NCBIFANCE [Mapview hg19]  FANCE [Mapview hg38]
    OMIM189960   600901   613976   
    Gene and transcription
    Genbank (Entrez)AF265210 AK292522 AK312617 BC046359
    RefSeq transcript (Entrez)NM_021922
    RefSeq genomic (Entrez)
    Consensus coding sequences : CCDS (NCBI)FANCE
    Cluster EST : UnigeneHs.302003 [ NCBI ]
    CGAP (NCI)Hs.302003
    Alternative Splicing GalleryENSG00000112039
    Gene ExpressionFANCE [ NCBI-GEO ]   FANCE [ EBI - ARRAY_EXPRESS ]   FANCE [ SEEK ]   FANCE [ MEM ]
    Gene Expression Viewer (FireBrowse)FANCE [ Firebrowse - Broad ]
    SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
    GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
    BioGPS (Tissue expression)2178
    GTEX Portal (Tissue expression)FANCE
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtQ9HB96   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
    NextProtQ9HB96  [Sequence]  [Exons]  [Medical]  [Publications]
    With graphics : InterProQ9HB96
    Splice isoforms : SwissVarQ9HB96
    PhosPhoSitePlusQ9HB96
    Domains : Interpro (EBI)Fanconi_anaemia_gr_E_prot_C   
    Domain families : Pfam (Sanger)FA_FANCE (PF11510)   
    Domain families : Pfam (NCBI)pfam11510   
    Conserved Domain (NCBI)FANCE
    DMDM Disease mutations2178
    Blocks (Seattle)FANCE
    PDB (SRS)2ILR   
    PDB (PDBSum)2ILR   
    PDB (IMB)2ILR   
    PDB (RSDB)2ILR   
    Structural Biology KnowledgeBase2ILR   
    SCOP (Structural Classification of Proteins)2ILR   
    CATH (Classification of proteins structures)2ILR   
    SuperfamilyQ9HB96
    Human Protein AtlasENSG00000112039
    Peptide AtlasQ9HB96
    HPRD02943
    IPIIPI00030252   
    Protein Interaction databases
    DIP (DOE-UCLA)Q9HB96
    IntAct (EBI)Q9HB96
    FunCoupENSG00000112039
    BioGRIDFANCE
    STRING (EMBL)FANCE
    ZODIACFANCE
    Ontologies - Pathways
    QuickGOQ9HB96
    Ontology : AmiGOmolecular_function  nucleus  nucleoplasm  interstrand cross-link repair  Fanconi anaemia nuclear complex  
    Ontology : EGO-EBImolecular_function  nucleus  nucleoplasm  interstrand cross-link repair  Fanconi anaemia nuclear complex  
    Pathways : BIOCARTABRCA1-dependent Ub-ligase activity [Genes]    Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility [Genes]   
    Pathways : KEGGFanconi anemia pathway   
    REACTOMEQ9HB96 [protein]
    REACTOME PathwaysR-HSA-6783310 [pathway]   
    NDEx NetworkFANCE
    Atlas of Cancer Signalling NetworkFANCE
    Wikipedia pathwaysFANCE
    Orthology - Evolution
    OrthoDB2178
    GeneTree (enSembl)ENSG00000112039
    Phylogenetic Trees/Animal Genes : TreeFamFANCE
    HOVERGENQ9HB96
    HOGENOMQ9HB96
    Homologs : HomoloGeneFANCE
    Homology/Alignments : Family Browser (UCSC)FANCE
    Gene fusions - Rearrangements
    Polymorphisms : SNP and Copy number variants
    NCBI Variation ViewerFANCE [hg38]
    dbSNP Single Nucleotide Polymorphism (NCBI)FANCE
    dbVarFANCE
    ClinVarFANCE
    1000_GenomesFANCE 
    Exome Variant ServerFANCE
    ExAC (Exome Aggregation Consortium)FANCE (select the gene name)
    Genetic variants : HAPMAP2178
    Genomic Variants (DGV)FANCE [DGVbeta]
    DECIPHERFANCE [patients]   [syndromes]   [variants]   [genes]  
    CONAN: Copy Number AnalysisFANCE 
    Mutations
    ICGC Data PortalFANCE 
    TCGA Data PortalFANCE 
    Broad Tumor PortalFANCE
    OASIS PortalFANCE [ Somatic mutations - Copy number]
    Cancer Gene: CensusFANCE 
    Somatic Mutations in Cancer : COSMICFANCE  [overview]  [genome browser]  [tissue]  [distribution]  
    Mutations and Diseases : HGMDFANCE
    LOVD (Leiden Open Variation Database)Whole genome datasets
    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
    BioMutasearch FANCE
    DgiDB (Drug Gene Interaction Database)FANCE
    DoCM (Curated mutations)FANCE (select the gene name)
    CIViC (Clinical Interpretations of Variants in Cancer)FANCE (select a term)
    intoGenFANCE
    NCG5 (London)FANCE
    Cancer3DFANCE(select the gene name)
    Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
    Diseases
    OMIM189960    600901    613976   
    Orphanet634   
    MedgenFANCE
    Genetic Testing Registry FANCE
    NextProtQ9HB96 [Medical]
    TSGene2178
    GENETestsFANCE
    Target ValidationFANCE
    Huge Navigator FANCE [HugePedia]
    snp3D : Map Gene to Disease2178
    BioCentury BCIQFANCE
    ClinGenFANCE
    Clinical trials, drugs, therapy
    Chemical/Protein Interactions : CTD2178
    Chemical/Pharm GKB GenePA28000
    Clinical trialFANCE
    Miscellaneous
    canSAR (ICR)FANCE (select the gene name)
    Other databaseFanconi anemia mutation database
    Probes
    Litterature
    PubMed52 Pubmed reference(s) in Entrez
    GeneRIFsGene References Into Functions (Entrez)
    CoreMineFANCE
    EVEXFANCE
    GoPubMedFANCE
    iHOPFANCE
    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 : Fri Jun 30 11:06:33 CEST 2017
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    For comments and suggestions or contributions, please contact us

    jlhuret@AtlasGeneticsOncology.org.