FANCE (Fanconi anemia, complementation group E)
2002-06-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
6p21.31
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
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 |
| 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 |
| 11530803 | 2001 | Current knowledge on the pathophysiology of Fanconi anemia: from genes to phenotypes. | Yamashita T et al |
| 11001585 | 2000 | Isolation 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 ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000112039 | ENST00000229769 | Q9HB96 |
| ENSG00000112039 | ENST00000648059 | A0A3B3ITU7 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37184052 | 2023 | Histological and transcriptomic analysis of Fance-deficient PGCs reveal the possible mechanisms of their depletion. | 1 |
| 37184052 | 2023 | Histological and transcriptomic analysis of Fance-deficient PGCs reveal the possible mechanisms of their depletion. | 1 |
| 34724663 | 2022 | Fanconi Anemia Complementation Group E, a DNA Repair-Related Gene, Is a Potential Marker of Poor Prognosis in Hepatocellular Carcinoma. | 2 |
| 34724663 | 2022 | Fanconi Anemia Complementation Group E, a DNA Repair-Related Gene, Is a Potential Marker of Poor Prognosis in Hepatocellular Carcinoma. | 2 |
| 33592580 | 2021 | Comprehensive analysis of macrophage-related multigene signature in the tumor microenvironment of head and neck squamous cancer. | 4 |
| 33592580 | 2021 | Comprehensive analysis of macrophage-related multigene signature in the tumor microenvironment of head and neck squamous cancer. | 4 |
| 26277624 | 2015 | Analysis of a FANCE Splice Isoform in Regard to DNA Repair. | 9 |
| 26277624 | 2015 | Analysis of a FANCE Splice Isoform in Regard to DNA Repair. | 9 |
| 24451376 | 2014 | The carboxyl terminus of FANCE recruits FANCD2 to the Fanconi Anemia (FA) E3 ligase complex to promote the FA DNA repair pathway. | 15 |
| 24451376 | 2014 | The carboxyl terminus of FANCE recruits FANCD2 to the Fanconi Anemia (FA) E3 ligase complex to promote the FA DNA repair pathway. | 15 |
| 20496165 | 2011 | Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. | 13 |
| 20496165 | 2011 | Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. | 13 |
| 19714462 | 2010 | Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population. | 18 |
| 20800603 | 2010 | Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. | 14 |
| 19714462 | 2010 | Genetic 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/fance-(fanconi-anemia-complementation-group-e)
