FANCE Gene - Fanconi Anemia Complementation Group E
FANCE encodes a core component of the Fanconi anemia (FA) DNA repair pathway, essential for the monoubiquitination of FANCD2 and the cellular response to DNA interstrand crosslinks.
Gene Information Card
| Symbol | FANCE |
|---|---|
| Full Name | FA Complementation Group E |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 2178 ncbi.nlm.nih.gov/gene/2178 |
| Ensembl ID | ENSG00000112039 |
| UniProt ID | Q9HB96 |
| OMIM ID | 613976 |
| HGNC ID | 3587 |
| Aliases | FACE, FAE |
Description
The FANCE gene encodes the Fanconi anemia complementation group E protein, a core component of the Fanconi anemia (FA) nuclear core complex. This complex is essential for the monoubiquitination of FANCD2, a key step in the DNA damage response pathway that repairs interstrand crosslinks (ICLs). FANCE is required for the stability and nuclear localization of the FA core complex, and its deficiency leads to cellular hypersensitivity to DNA crosslinking agents and chromosomal instability. Mutations in FANCE cause Fanconi anemia complementation group E, a rare genetic disorder characterized by progressive bone marrow failure, congenital abnormalities, and increased cancer susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi Anemia Complementation Group E (FA-E) | Loss-of-function mutations in FANCE disrupt the FA core complex, preventing FANCD2 monoubiquitination and impairing DNA interstrand crosslink repair. This leads to chromosomal instability and the clinical features of Fanconi anemia. | OMIM 613976; ClinVar |
| Acute Myeloid Leukemia (AML) | Biallelic FANCE mutations predispose to AML due to defective DNA repair and genomic instability in hematopoietic stem cells. | COSMIC; Literature |
| Squamous Cell Carcinoma (SCC) | FA patients, including those with FANCE mutations, have a high risk of developing SCC, particularly of the head, neck, and gynecological tract, due to accumulated DNA damage. | COSMIC; Literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 14.2 | Medium |
| Bone Marrow | 10.5 | Medium |
| Spleen | 9.8 | Medium |
| Lymph Node | 8.7 | Low |
| Liver | 7.1 | Low |
| Kidney | 6.3 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (Leukemia) | 12.5 | High expression in myeloid leukemia cell line |
| HeLa (Cervical Cancer) | 10.2 | Moderate expression |
| A549 (Lung Cancer) | 8.9 | Moderate expression |
| MCF7 (Breast Cancer) | 7.8 | Low to moderate expression |
| HepG2 (Liver Cancer) | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.67C>T (p.Gln23Ter) | Nonsense | Rare | Premature stop codon, loss of protein function |
| c.1115_1118del (p.Leu372fs) | Frameshift | Rare | Frameshift leading to truncated protein |
| c.397C>T (p.Arg133Ter) | Nonsense | Rare | Premature stop codon, loss of protein function |
| c.1480C>T (p.Arg494Ter) | Nonsense | Rare | Premature stop codon, loss of protein function |
| c.1534C>T (p.Arg512Ter) | Nonsense | Rare | Premature stop codon, loss of protein function |
Mutation functional classification
Loss of Function (LOF)
The majority of FANCE mutations are loss-of-function, including nonsense, frameshift, and splice-site mutations that result in truncated or absent protein. This leads to disruption of the FA core complex and failure to monoubiquitinate FANCD2.
Gain of Function (GOF)
No gain-of-function mutations have been reported for FANCE. The gene functions as a tumor suppressor, and its activity is required for DNA repair.
Dominant Negative (DN)
While most FA genes show autosomal recessive inheritance, some missense mutations in FANCE could potentially exert a dominant-negative effect by incorporating into the FA core complex and disrupting its function. However, this has not been definitively demonstrated for FANCE.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • Fanconi anemia pathway |
| • protein binding | • nucleus |
| • nucleoplasm | • FA core complex |
| • interstrand cross-link repair | • response to DNA damage stimulus |
Pathways
• Fanconi anemia pathway
• DNA damage response
• Homologous recombination repair
Protein Summary
The FANCE protein is a 536-amino acid polypeptide that localizes to the nucleus and is a component of the multisubunit Fanconi anemia core complex. This complex, which includes FANCA, FANCB, FANCC, FANCF, FANCG, FANCL, and FANCM, is required for the monoubiquitination of FANCD2 and FANCI. FANCE is thought to play a structural role, linking FANCC to the complex and stabilizing the interaction between FANCC and FANCF. The protein contains no known enzymatic domains but has several phosphorylation sites that may regulate its function. FANCE is essential for the nuclear accumulation of the FA core complex and for the activation of the downstream DNA repair pathway.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FANCE Knockout HEK293 Cell Line | EDJ-KQ4574 | Human | 2178 | Details Get a Quote |
| FANCE Knockout A-549 Cell Line | EDJ-KQ25970 | Human | 2178 | Details Get a Quote |
| FANCE Knockout HCT 116 Cell Line | EDJ-KQ27228 | Human | 2178 | Details Get a Quote |
| FANCE Knockout HeLa Cell Line | EDJ-KQ27229 | Human | 2178 | Details Get a Quote |
| FANCE (c.-56C>T )Point Mutation in HAP1 Cell Line | EDC03476 | Human | 2178 | Details Get a Quote |
| Fance Knockout NIH 3T3 Cell Line | EDC90283 | Mouse | 72775 | Details Get a Quote |
Displaying Records 1 To 6 Of 6 Records
