FANCF (Fanconi anemia, complementation group F)

2002-06-01 Jean-Loup Huret Affiliation

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

Identity

HGNC

FANCF

LOCATION

11p14.3

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 ID	Last Year	Title	Authors

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)

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

Pathway	Source	External ID
Fanconi anemia pathway	KEGG	ko03460
Fanconi anemia pathway	KEGG	hsa03460
FA core complex	KEGG	hsa_M00413
FA core complex	KEGG	M00413
DNA Repair	REACTOME	R-HSA-73894
Fanconi Anemia Pathway	REACTOME	R-HSA-6783310

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/gene-explorer/favicon/favicon/favicon-16x16.png