FANCC Gene - Fanconi Anemia Complementation Group C
Essential for DNA repair and bone marrow failure syndrome
Gene Information Card
| Symbol | FANCC |
|---|---|
| Full Name | FA complementation group C |
| Gene Type | protein-coding |
| Chromosomal Location | 9q22.32 |
| NCBI Gene ID | 2176 ncbi.nlm.nih.gov/gene/2176 |
| Ensembl ID | ENSG00000158169 |
| UniProt ID | Q00597 |
| OMIM ID | 613899 |
| HGNC ID | 3584 |
| Aliases | FACC, FA3, FANCC_HUMAN |
Description
FANCC encodes a protein that is part of the Fanconi anemia (FA) core complex, which is essential for the repair of DNA interstrand crosslinks. The protein interacts with other FA proteins to activate the FA pathway, promoting genomic stability. Mutations in FANCC cause Fanconi anemia complementation group C, 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 C | Loss of FANCC function disrupts DNA repair, leading to chromosomal instability and bone marrow failure. | ClinVar, OMIM |
| Acute myeloid leukemia | Defective DNA repair in hematopoietic stem cells predisposes to leukemic transformation. | COSMIC, NCBI |
| Squamous cell carcinoma | Impaired DNA crosslink repair increases susceptibility to head and neck and other squamous cell cancers. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lymph node | 6.1 | Low |
| Spleen | 5.4 | Low |
| Liver | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cell line |
| K562 | 10.8 | Chronic myeloid leukemia cell line |
| HeLa | 9.4 | Cervical carcinoma cell line |
| HepG2 | 4.1 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.456+4A>T | Splice site | Common in Fanconi anemia | Loss of function |
| c.67delG | Frameshift deletion | ~1% in FA patients | Loss of function |
| c.1642C>T (p.Arg548*) | Nonsense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most FANCC mutations result in loss of protein function, impairing DNA interstrand crosslink repair.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for FANCC; recessive inheritance pattern.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • interstrand crosslink repair |
| • Fanconi anemia core complex | • protein binding |
| • nucleus |
Pathways
• Fanconi anemia pathway (Reactome R-HSA-6783310)
• DNA damage response (KEGG hsa03460)
Protein Summary
The FANCC protein is a 558-amino acid component of the FA core complex, which monoubiquitinates FANCD2 and FANCI to activate DNA repair. It localizes to the nucleus and interacts with other FA proteins and signaling molecules. Defects in FANCC lead to hypersensitivity to DNA crosslinking agents and chromosomal breakage.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FANCC Knockout HEK293 Cell Line | EDJ-KQ2465 | Human | 2176 | Details Get a Quote |
| FANCC Knockout A-549 Cell Line | EDJ-KQ24394 | Human | 2176 | Details Get a Quote |
| FANCC Knockout HCT 116 Cell Line | EDJ-KQ24395 | Human | 2176 | Details Get a Quote |
| FANCC Knockout HeLa Cell Line | EDJ-KQ24396 | Human | 2176 | Details Get a Quote |
| FANCC Knockout HAP1 Cell Line | EDC08007 | Human | 2176 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
