RAD51C
RAD51 Paralog C: A Key Player in Homologous Recombination and DNA Repair
Gene Information Card
| Symbol | RAD51C |
|---|---|
| Full Name | RAD51 paralog C |
| Gene Type | protein-coding |
| Chromosomal Location | 17q22 |
| NCBI Gene ID | 5889 ncbi.nlm.nih.gov/gene/5889 |
| Ensembl ID | ENSG00000108384 |
| UniProt ID | O43502 |
| OMIM ID | 602774 |
| HGNC ID | 9820 |
| Aliases | RAD51L2, BROVCA3, FANCO |
Description
RAD51C is a member of the RAD51 paralog family that plays a critical role in homologous recombination repair of DNA double-strand breaks. It forms complexes with other RAD51 paralogs (RAD51B, RAD51D, XRCC2, XRCC3) and is essential for RAD51 focus formation and strand exchange. Germline mutations in RAD51C predispose to hereditary breast and ovarian cancer (HBOC) and Fanconi anemia complementation group O.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Breast and Ovarian Cancer (HBOC) | Loss-of-function mutations impair homologous recombination, leading to genomic instability and tumorigenesis | ClinVar, OMIM |
| Fanconi Anemia Complementation Group O | Biallelic mutations disrupt DNA interstrand crosslink repair, causing bone marrow failure and developmental abnormalities | OMIM, NCBI |
| Prostate Cancer | RAD51C variants may increase risk through defective DNA repair | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone Marrow | 8.3 | Medium |
| Ovary | 6.1 | Low |
| Breast | 4.8 | Low |
| Lung | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.7 | Cervical cancer cell line |
| MCF7 | 7.4 | Breast cancer cell line |
| A549 | 5.6 | Lung cancer cell line |
| HEK293 | 4.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.904+1G>A | Splice donor | Rare | Loss of function; associated with HBOC |
| c.1026_1027delCT | Frameshift | Rare | Truncation; Fanconi anemia |
| c.571G>A (p.Gly191Arg) | Missense | Rare | Impaired homologous recombination |
| c.790C>T (p.Arg264Trp) | Missense | Rare | Reduced RAD51 focus formation |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations are loss-of-function, including frameshift, nonsense, and splice-site variants that disrupt protein expression or activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in RAD51C.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg264Trp) may act as dominant-negative by interfering with complex formation.
View complete mutation data：
Gene Ontology (GO)
| • double-strand break repair via homologous recombination (GO:0000724) | • DNA recombination (GO:0006310) |
| • nucleus (GO:0005634) | • DNA repair (GO:0042147) |
| • regulation of DNA recombination (GO:0010528) |
Pathways
• Homologous recombination (Reactome: R-HSA-5695949)
• Fanconi anemia pathway (KEGG: hsa03460)
• DNA double-strand break repair (KEGG: hsa03440)
Protein Summary
RAD51C is a 376-amino acid protein (42 kDa) that localizes to the nucleus and forms complexes with other RAD51 paralogs. It is essential for RAD51 loading onto single-stranded DNA during homologous recombination. The protein contains a conserved ATP-binding domain and interacts with RAD51B, RAD51D, XRCC2, and XRCC3. Loss of RAD51C function leads to hypersensitivity to DNA crosslinking agents and ionizing radiation.
Related Services
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