FANCE (Fanconi anemia, complementation group E)

2002-06-01   Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
LOCATION
6p21.31
IMAGE
Atlas Image
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
ALIAS
FACE,FAE

DNA/RNA

Description

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

Proteins

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

    Entity name
    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 anaemias 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

    Pubmed IDLast YearTitleAuthors
    118541762002Breaks at telomeres and TRF2-independent end fusions in Fanconi anemia.Callén E et al
    111106742000Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group.Faivre L et al
    112394542001Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway.Garcia-Higuera I et al
    116734082001Fanconi anemia and DNA repair.Grompe M et al
    111578052001Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway.Medhurst AL et al
    112975592001Fanconi anemia proteins localize to chromatin and the nuclear matrix in a DNA damage- and cell cycle-regulated manner.Qiao F et al
    115308032001Current knowledge on the pathophysiology of Fanconi anemia: from genes to phenotypes.Yamashita T et al
    110015852000Isolation of a cDNA representing the Fanconi anemia complementation group E gene.de Winter JP et al

    Other Information

    Locus ID:

    NCBI: 2178
    MIM: 613976
    HGNC: 3586
    Ensembl: ENSG00000112039

    Variants:

    dbSNP: 2178
    ClinVar: 2178
    TCGA: ENSG00000112039
    COSMIC: FANCE

    RNA/Proteins

    Gene IDTranscript IDUniprot
    ENSG00000112039ENST00000229769Q9HB96
    ENSG00000112039ENST00000648059A0A3B3ITU7

    Expression (GTEx)

    0
    5
    10
    15
    20
    25

    Pathways

    PathwaySourceExternal ID
    Fanconi anemia pathwayKEGGko03460
    Fanconi anemia pathwayKEGGhsa03460
    FA core complexKEGGhsa_M00413
    FA core complexKEGGM00413
    DNA RepairREACTOMER-HSA-73894
    Fanconi Anemia PathwayREACTOMER-HSA-6783310

    Protein levels (Protein atlas)

    Not detected
    Low
    Medium
    High

    References

    Pubmed IDYearTitleCitations
    172967362007Chk1-mediated phosphorylation of FANCE is required for the Fanconi anemia/BRCA pathway.62
    120937422002FANCE: the link between Fanconi anaemia complex assembly and activity.38
    122391562002The Fanconi anemia protein, FANCE, promotes the nuclear accumulation of FANCC.20
    161271712005FANCC, FANCE, and FANCD2 form a ternary complex essential to the integrity of the Fanconi anemia DNA damage response pathway.15
    173083472007Insights into Fanconi Anaemia from the structure of human FANCE.14
    197144622010Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population.14
    195366492009The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features.13
    165134312006The nuclear accumulation of the Fanconi anemia protein FANCE depends on FANCC.12
    204961652011Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk.12
    208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12

    Citation

    Jean-Loup Huret

    FANCE (Fanconi anemia, complementation group E)

    Atlas Genet Cytogenet Oncol Haematol. 2002-06-01

    Online version: http://atlasgeneticsoncology.org/gene/293/fanceid293