RAD51B: A Key Homologous Recombination Repair Factor
RAD51B gene, RAD51 paralog B, DNA repair, breast cancer susceptibility, homologous recombination
Gene Information Card
| Symbol | RAD51B |
|---|---|
| Full Name | RAD51 paralog B |
| Gene Type | protein-coding |
| Chromosomal Location | 14q24.1 |
| NCBI Gene ID | 5890 ncbi.nlm.nih.gov/gene/5890 |
| Ensembl ID | ENSG00000182185 |
| UniProt ID | O15315 |
| OMIM ID | 602948 |
| HGNC ID | 9823 |
| Aliases | RAD51L1, hREC2, R51H2 |
Description
RAD51B (RAD51 paralog B) encodes a protein that is a member of the RAD51 protein family, which is essential for homologous recombination repair of DNA double-strand breaks. RAD51B forms complexes with other RAD51 paralogs (RAD51C, RAD51D, XRCC2, XRCC3) and facilitates the assembly of RAD51 nucleoprotein filaments. Loss-of-function mutations in RAD51B are associated with increased susceptibility to breast and ovarian cancers, and the gene is frequently altered in various malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Loss-of-function variants impair homologous recombination repair, leading to genomic instability and increased cancer risk | ClinVar, OMIM |
| Ovarian Cancer | Similar mechanism as breast cancer; RAD51B mutations are found in hereditary ovarian cancer families | ClinVar, OMIM |
| Fanconi Anemia | RAD51B is a Fanconi anemia complementation group; biallelic mutations cause FA-like phenotype | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone Marrow | 8.2 | Low |
| Lymph Node | 7.1 | Low |
| Breast | 5.3 | Low |
| Ovary | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.1 | Cervical cancer cell line |
| MCF7 | 6.4 | Breast cancer cell line |
| A549 | 5.7 | Lung cancer cell line |
| K562 | 8.0 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.574C>T (p.Arg192*) | Nonsense | <0.01% | Loss of function; truncation of protein |
| c.631G>A (p.Gly211Arg) | Missense | <0.01% | Uncertain significance; potential impact on protein function |
| c.791_792delAG (p.Glu264Valfs*2) | Frameshift | <0.01% | Loss of function; frameshift leading to premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that truncate the protein or disrupt the ATPase domain impair homologous recombination repair, leading to genomic instability and cancer predisposition.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported for RAD51B.
Dominant Negative (DN)
Some missense variants may exert dominant-negative effects by disrupting RAD51 paralog complex assembly, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • homologous recombination |
| • double-strand break repair | • DNA recombination |
| • ATP binding | • nucleus |
Pathways
• Homologous recombination (KEGG: hsa03440)
• Fanconi anemia pathway (KEGG: hsa03460)
• DNA double-strand break repair
Protein Summary
RAD51B is a 350-amino acid protein (UniProt O15315) that localizes to the nucleus and participates in homologous recombination repair. It contains an ATP-binding domain and interacts with RAD51C, RAD51D, XRCC2, and XRCC3 to form the BCDX2 complex, which promotes RAD51 loading onto single-stranded DNA. RAD51B is essential for maintaining genomic stability, and its deficiency leads to sensitivity to DNA crosslinking agents and ionizing radiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAD51B Knockout HEK293 Cell Line | EDJ-KQ5628 | Human | 5890 | Details Get a Quote |
| RAD51B Knockout HCT 116 Cell Line | EDJ-KQ28944 | Human | 5890 | Details Get a Quote |
| RAD51B Knockout HeLa Cell Line | EDJ-KQ28945 | Human | 5890 | Details Get a Quote |
| RAD51B Knockout A-549 Cell Line | EDJ-KQ27680 | Human | 5890 | Details Get a Quote |
| RAD51B (c.84+28T>G )Point Mutation in HAP1 Cell Line | EDC03586 | Human | 5890 | Details Get a Quote |
| RAD51B (c.84+120G>A )Point Mutation in HAP1 Cell Line | EDC03587 | Human | 5890 | Details Get a Quote |
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