FANCF Gene - Fanconi Anemia Complementation Group F
Essential Component of the Fanconi Anemia DNA Repair Pathway
Gene Information Card
| Symbol | FANCF |
|---|---|
| Full Name | FA Complementation Group F |
| Gene Type | Protein coding |
| Chromosomal Location | 11p14.3 |
| NCBI Gene ID | 2188 ncbi.nlm.nih.gov/gene/2188 |
| Ensembl ID | ENSG00000183161 |
| UniProt ID | Q9NPI8 |
| OMIM ID | 603467 |
| HGNC ID | 3587 |
| Aliases | FAF, FANCF, FA complementation group F |
Description
The FANCF gene encodes a protein that is a component of the Fanconi anemia (FA) core complex. This complex is essential for the activation of the FA pathway, which mediates the repair of DNA interstrand crosslinks (ICLs). FANCF acts as a molecular bridge that stabilizes the interaction between other FA core complex subunits. Mutations in FANCF cause Fanconi anemia complementation group F, a disorder characterized by bone marrow failure, congenital abnormalities, and increased cancer risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi anemia complementation group F | Loss-of-function mutations in FANCF disrupt the FA core complex, impairing ICL repair and leading to genomic instability. | OMIM #603467 |
| Acute myeloid leukemia (AML) | FA pathway deficiency due to FANCF mutations increases susceptibility to AML. | ClinVar, COSMIC |
| Squamous cell carcinoma (head and neck) | Defective DNA repair in FA patients predisposes to epithelial cancers. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 5.2 | Low |
| Testis | 8.1 | Medium |
| Lymph node | 6.3 | Medium |
| Spleen | 4.9 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 7.5 | Cervical cancer cell line |
| K562 | 6.8 | Leukemia cell line |
| HEK293 | 5.9 | Embryonic kidney cell line |
| HCT116 | 4.3 | Colorectal carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.67C>T (p.Arg23*) | Nonsense | <1% | Loss of function; premature truncation |
| c.484_485delCT | Frameshift | <1% | Loss of function; protein truncation |
| c.1123C>T (p.Arg375Trp) | Missense | <1% | Likely loss of function; disrupts protein interaction |
Mutation functional classification
Loss of Function (LOF)
Most FANCF mutations are loss-of-function, leading to FA pathway deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • Fanconi anemia pathway |
| • interstrand cross-link repair | • protein binding |
| • nucleus |
Pathways
• Fanconi anemia pathway (KEGG hsa03460)
• DNA damage response
Protein Summary
FANCF is a 374-amino acid protein that functions as a structural component of the FA core complex. It does not possess enzymatic activity but is critical for complex assembly and stability. The protein contains multiple protein-protein interaction domains that mediate binding to FANCA, FANCG, and other core complex members. Loss of FANCF leads to failure of FANCD2 monoubiquitination, a key step in ICL repair.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID |
|---|
