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
FANCE
LOCATION
6p21.31
IMAGE
Atlas Image
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
2178
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

    Article 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
    Adipose - Subcutaneous
    Adipose - Visceral
    Adrenal Gland
    Artery - Aorta
    Artery - Tibial
    Bladder
    Brain - Amygdala
    Brain - Anterior cingulate cortex
    Brain - Caudate
    Brain - Cerebellar Hemisphere
    Brain - Cerebellum
    Brain - Cortex
    Brain - Frontal Cortex
    Brain - Hippocampus
    Brain - Hypothalamus
    Brain - Nucleus accumbens
    Brain - Putamen
    Brain - Spinal cord
    Brain - Substantia nigra
    Breast - Mammary Tissue
    Cells - Cultured fibroblasts
    Cells - EBV - transformed lymphocytes
    Cervix - Ectocervix
    Cervix - Endocervix
    Colon - Sigmoid
    Colon - Transverse
    Esophagus - Gastroesophageal Junction
    Esophagus - Mucosa
    Esophagus - Muscularis
    Fallopian Tube
    Heart - Atrial Appendage
    Heart - Left Ventricle
    Kidney - Cortex
    Kidney - Medulla
    Liver
    Lung
    Minor Salivary Gland
    Muscle - Skeletal
    Nerve - Tibial
    Ovary
    Pancreas
    Pituitary
    Prostate
    Skin - Not Sun Exposed
    Skin - Sun Exposed
    Small Intestine - Terminal Ileum
    Spleen
    Stomach
    Testis
    Thyroid
    Uterus
    Vagina
    Whole Blood

    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
    cerebral cortex
    cerebellum
    hippocampus
    caudate
    thyroid gland
    parathyroid gland
    adrenal gland
    nasopharynx
    bronchus
    lung
    oral mucosa
    salivary gland
    esophagus
    stomach 1
    stomach 2
    duodenum
    small intestine
    colon
    rectum
    liver
    gallbladder
    pancreas
    kidney
    urinary bladder
    testis
    epididymis
    seminal vesicle
    prostate
    vagina
    ovary
    fallopian tube
    endometrium 1
    endometrium 2
    cervix, uterine
    placenta
    breast
    heart muscle
    smooth muscle
    skeletal muscle
    soft tissue 1
    soft tissue 2
    adipose tissue
    skin 1
    skin 2
    appendix
    spleen
    lymph node
    tonsil
    bone marrow

    References

    Pubmed IDYearTitleCitations
    371840522023Histological and transcriptomic analysis of Fance-deficient PGCs reveal the possible mechanisms of their depletion.1
    371840522023Histological and transcriptomic analysis of Fance-deficient PGCs reveal the possible mechanisms of their depletion.1
    347246632022Fanconi Anemia Complementation Group E, a DNA Repair-Related Gene, Is a Potential Marker of Poor Prognosis in Hepatocellular Carcinoma.2
    347246632022Fanconi Anemia Complementation Group E, a DNA Repair-Related Gene, Is a Potential Marker of Poor Prognosis in Hepatocellular Carcinoma.2
    335925802021Comprehensive analysis of macrophage-related multigene signature in the tumor microenvironment of head and neck squamous cancer.4
    335925802021Comprehensive analysis of macrophage-related multigene signature in the tumor microenvironment of head and neck squamous cancer.4
    262776242015Analysis of a FANCE Splice Isoform in Regard to DNA Repair.9
    262776242015Analysis of a FANCE Splice Isoform in Regard to DNA Repair.9
    244513762014The carboxyl terminus of FANCE recruits FANCD2 to the Fanconi Anemia (FA) E3 ligase complex to promote the FA DNA repair pathway.15
    244513762014The carboxyl terminus of FANCE recruits FANCD2 to the Fanconi Anemia (FA) E3 ligase complex to promote the FA DNA repair pathway.15
    204961652011Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk.13
    204961652011Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk.13
    197144622010Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population.18
    208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.14
    197144622010Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population.18

    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/css/js/lib/img/logo-atlas-4.svg