RAD54B: A Key Homologous Recombination Repair Gene in Cancer and Genome Stability
Comprehensive genomic and functional overview of RAD54B, a DNA repair helicase implicated in cancer susceptibility and tumor progression.
Gene Information Card
| Symbol | RAD54B |
|---|---|
| Full Name | RAD54 homolog B (S. cerevisiae) |
| Gene Type | Protein coding |
| Chromosomal Location | 8q22.1 |
| NCBI Gene ID | 25788 ncbi.nlm.nih.gov/gene/25788 |
| Ensembl ID | ENSG00000197299 |
| UniProt ID | Q9Y620 |
| OMIM ID | 604289 |
| HGNC ID | 9820 |
| Aliases | RAD54L2, hRAD54B, RAD54B homolog |
Description
RAD54B encodes a member of the DEAD-like helicase superfamily involved in homologous recombination repair of DNA double-strand breaks. The protein interacts with RAD51 and is essential for maintaining genomic stability. Mutations and altered expression of RAD54B are associated with various cancers, including colorectal, breast, and lymphoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Loss of function or reduced expression impairs homologous recombination, leading to genomic instability and tumorigenesis. | PMID: 10615125, COSMIC |
| Breast cancer | Somatic mutations and decreased expression contribute to defective DNA repair and increased susceptibility. | PMID: 12007273, ClinVar |
| Non-Hodgkin lymphoma | Recurrent somatic mutations in RAD54B are found in diffuse large B-cell lymphoma, affecting DNA repair. | PMID: 21252315, COSMIC |
| Primary immunodeficiency | Rare germline variants may impair V(D)J recombination and immune function. | OMIM #604289 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 6.9 | Low |
| Colon | 5.1 | Low |
| Breast | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| HCT116 | 8.7 | Colorectal carcinoma cell line |
| MCF7 | 6.3 | Breast cancer cell line |
| K562 | 5.8 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2026C>T (p.Arg676Trp) | Missense | 0.02% (gnomAD) | Reduced helicase activity; associated with colorectal cancer |
| c.1330G>A (p.Glu444Lys) | Missense | 0.01% (gnomAD) | Impaired RAD51 interaction; reported in breast cancer |
| c.1741_1742del (p.Leu581fs) | Frameshift | <0.01% (COSMIC) | Loss of function; found in lymphoma |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the helicase domain lead to loss of homologous recombination repair activity, increasing genomic instability.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported for RAD54B.
Dominant Negative (DN)
Certain missense mutations (e.g., p.Arg676Trp) may interfere with wild-type RAD54B or RAD51 function, exerting a dominant-negative effect on DNA repair.
View complete mutation data：
Gene Ontology (GO)
| • DNA helicase activity (GO:0003678) | • ATP binding (GO:0005524) |
| • DNA recombination (GO:0006310) | • DNA repair (GO:0006281) |
| • Homologous recombination (GO:0032508) | • Chromosome organization (GO:0051276) |
Pathways
• Homologous recombination (Reactome: R-HSA-5695940)
• DNA double-strand break repair (KEGG: hsa03440)
• Fanconi anemia pathway (KEGG: hsa03460)
Protein Summary
RAD54B is a 905-amino acid DNA helicase that belongs to the SWI2/SNF2 family. It contains a conserved DEAD-box helicase domain and ATP-binding motifs. The protein forms a complex with RAD51 to promote strand exchange during homologous recombination. RAD54B also exhibits chromatin remodeling activity, facilitating access to damaged DNA. Its expression is highest in testis and lymphoid tissues, consistent with roles in meiotic and mitotic recombination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAD54B Knockout HEK293 Cell Line | EDJ-KQ2526 | Human | 25788 | Details Get a Quote |
| RAD54B Knockout A-549 Cell Line | EDJ-KQ23146 | Human | 25788 | Details Get a Quote |
| RAD54B Knockout HCT 116 Cell Line | EDJ-KQ23147 | Human | 25788 | Details Get a Quote |
| RAD54B Knockout HeLa Cell Line | EDJ-KQ23148 | Human | 25788 | Details Get a Quote |
