FANCF (Fanconi anemia, complementation group F)

2002-06-01   Jean-Loup Huret 

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

Identity

HGNC
FANCF
LOCATION
11p14.3
IMAGE
Atlas Image
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
2188
ALIAS
FAF
FUSION GENES
Show Gene Fusions

DNA/RNA

Description

1 exon; 1124 bp open reading frame

Proteins

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 name
    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 anaemias 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).

    Bibliography

    Pubmed IDLast YearTitleAuthors

    Other Information

    Locus ID:

    NCBI: 2188
    MIM: 613897
    HGNC: 3587
    Ensembl: ENSG00000183161

    Variants:

    dbSNP: 2188
    ClinVar: 2188
    TCGA: ENSG00000183161
    COSMIC: FANCF

    RNA/Proteins

    Gene IDTranscript IDUniprot
    ENSG00000183161ENST00000327470Q9NPI8
    ENSG00000183161ENST00000327470A3KME0

    Expression (GTEx)

    0
    5
    10
    15
    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

    References

    Pubmed IDYearTitleCitations
    146474192004Inactivation of the Fanconi anemia/BRCA pathway in lung and oral cancers: implications for treatment and survival.70
    151263312004Promoter hypermethylation of FANCF: disruption of Fanconi Anemia-BRCA pathway in cervical cancer.58
    179327442008Estrogen receptor alpha, BRCA1, and FANCF promoter methylation occur in distinct subsets of sporadic breast cancers.35
    164185742006Promoter hypermethylation of FANCF plays an important role in the occurrence of ovarian cancer through disrupting Fanconi anemia-BRCA pathway.22
    152629602004The Fanconi anemia gene product FANCF is a flexible adaptor protein.19
    170821802007Structural determinants of human FANCF protein that function in the assembly of a DNA damage signaling complex.19
    184144722008Promoter hypermethylation of FANCF and outcome in advanced ovarian cancer.14
    195366492009The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features.13
    204961652011Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk.12
    198015482009The interferon consensus sequence binding protein (ICSBP/IRF8) activates transcription of the FANCF gene during myeloid differentiation.10

    Citation

    Jean-Loup Huret

    FANCF (Fanconi anemia, complementation group F)

    Atlas Genet Cytogenet Oncol Haematol. 2002-06-01

    Online version: http://atlasgeneticsoncology.org/gene/294/js/lib/bootstrap.min.js