FANCF (Fanconi anemia, complementation group F)
2002-06-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
11p14.3
IMAGE
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
ALIAS
FAF
FUSION GENES
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).
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11854176 | 2002 | Breaks at telomeres and TRF2-independent end fusions in Fanconi anemia. | Callén E et al |
| 11110674 | 2000 | Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group. | Faivre L et al |
| 11239454 | 2001 | Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. | Garcia-Higuera I et al |
| 11673408 | 2001 | Fanconi anemia and DNA repair. | Grompe M et al |
| 11739191 | 2001 | Correction of cross-linker sensitivity of Fanconi anemia group F cells by CD33-mediated protein transfer. | Holmes RK et al |
| 11157805 | 2001 | Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway. | Medhurst AL et al |
| 11297559 | 2001 | Fanconi anemia proteins localize to chromatin and the nuclear matrix in a DNA damage- and cell cycle-regulated manner. | Qiao F et al |
| 11750104 | 2001 | Function of the Fanconi anemia pathway in Fanconi anemia complementation group F and D1 cells. | Siddique MA et al |
| 11530803 | 2001 | Current knowledge on the pathophysiology of Fanconi anemia: from genes to phenotypes. | Yamashita T et al |
| 11063725 | 2000 | The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG. | de Winter JP et al |
Other Information
Locus ID:
NCBI: 2188
MIM: 613897
HGNC: 3587
Ensembl: ENSG00000183161
Variants:
dbSNP: 2188
ClinVar: 2188
TCGA: ENSG00000183161
COSMIC: FANCF
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000183161 | ENST00000327470 | Q9NPI8 |
| ENSG00000183161 | ENST00000327470 | A3KME0 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32915143 | 2020 | FANCF hypomethylation is associated with colorectal cancer in Han Chinese. | 0 |
| 32915143 | 2020 | FANCF hypomethylation is associated with colorectal cancer in Han Chinese. | 0 |
| 31288759 | 2019 | A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report. | 4 |
| 31288759 | 2019 | A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report. | 4 |
| 27714961 | 2017 | Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations. | 1 |
| 28440438 | 2017 | Loss of heterozygosity in FANCG, FANCF and BRIP1 from head and neck squamous cell carcinoma of the oral cavity. | 4 |
| 27714961 | 2017 | Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations. | 1 |
| 28440438 | 2017 | Loss of heterozygosity in FANCG, FANCF and BRIP1 from head and neck squamous cell carcinoma of the oral cavity. | 4 |
| 26507869 | 2016 | Promoter Hypermethylation of FANCF and Susceptibility and Prognosis of Epithelial Ovarian Cancer. | 6 |
| 26507869 | 2016 | Promoter Hypermethylation of FANCF and Susceptibility and Prognosis of Epithelial Ovarian Cancer. | 6 |
| 24996439 | 2015 | The Fanconi anemia/BRCA pathway is involved in DNA interstrand cross-link repair of adriamycin-resistant leukemia cells. | 4 |
| 26033879 | 2015 | Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing. | 2 |
| 26385482 | 2015 | RNA interferences targeting the Fanconi anemia/BRCA pathway upstream genes reverse cisplatin resistance in drug-resistant lung cancer cells. | 18 |
| 24996439 | 2015 | The Fanconi anemia/BRCA pathway is involved in DNA interstrand cross-link repair of adriamycin-resistant leukemia cells. | 4 |
| 26033879 | 2015 | Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing. | 2 |
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/fancf
