RAD51D
RAD51 paralog D; key player in homologous recombination repair and susceptibility to breast and ovarian cancer
Gene Information Card
| Symbol | RAD51D |
|---|---|
| Full Name | RAD51 paralog D |
| Gene Type | protein-coding |
| Chromosomal Location | 17q12 |
| NCBI Gene ID | 5892 ncbi.nlm.nih.gov/gene/5892 |
| Ensembl ID | ENSG00000185379 |
| UniProt ID | O75771 |
| OMIM ID | 602954 |
| HGNC ID | 9823 |
| Aliases | R51H3, RAD51L3, TRAD |
Description
RAD51D encodes a member of the RAD51 protein family, which is essential for homologous recombination repair of DNA double-strand breaks. The protein forms a complex with other RAD51 paralogs (RAD51B, RAD51C, XRCC2, XRCC3) and is required for RAD51 focus formation at damage sites. RAD51D also participates in the Fanconi anemia pathway and telomere maintenance. Loss-of-function mutations increase genomic instability and predispose to breast, ovarian, and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss-of-function mutations impair homologous recombination repair, leading to genomic instability and tumorigenesis | ClinVar, OMIM |
| Ovarian cancer | Same mechanism; RAD51D pathogenic variants confer high risk for ovarian cancer | ClinVar, OMIM |
| Fanconi anemia complementation group R | Biallelic mutations cause Fanconi anemia, a bone marrow failure syndrome with predisposition to leukemia | OMIM, NCBI |
| Prostate cancer | Rare germline variants may increase risk, though evidence is less robust | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Bone marrow | 8.7 | Medium |
| Lymph node | 7.1 | Medium |
| Ovary | 6.5 | Low |
| Breast | 5.2 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Cervical cancer cell line |
| MCF7 | 7.3 | Breast cancer cell line |
| HEK293 | 6.5 | Embryonic kidney cell line |
| K562 | 5.9 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.270_271dupTA | Frameshift | Rare | Loss of function; pathogenic in breast/ovarian cancer |
| c.620C>T (p.Ser207Leu) | Missense | Rare | Uncertain significance; may impair protein function |
| c.694C>T (p.Arg232*) | Nonsense | Rare | Loss of function; pathogenic |
| c.556C>T (p.Arg186Trp) | Missense | Rare | Likely pathogenic; disrupts DNA binding |
Mutation functional classification
Loss of Function (LOF)
Most RAD51D pathogenic variants are loss-of-function (nonsense, frameshift, splice-site), impairing homologous recombination repair and increasing cancer risk.
Gain of Function (GOF)
No gain-of-function mutations reported for RAD51D.
Dominant Negative (DN)
Some missense variants may act in a dominant-negative manner by disrupting complex formation with other RAD51 paralogs, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Homologous recombination repair (Reactome: R-HSA-5693571)
• Fanconi anemia pathway (Reactome: R-HSA-6783310)
• DNA double-strand break repair (KEGG: hsa03440)
Protein Summary
RAD51D is a 328-amino acid protein (UniProt O75771) that belongs to the RAD51 family. It contains a conserved RecA/Rad51 domain responsible for ATP binding and DNA recombination. RAD51D forms a heterodimer with XRCC2 and participates in the BCDX2 complex (RAD51B-RAD51C-RAD51D-XRCC2), which facilitates RAD51 loading onto single-stranded DNA during homologous recombination. The protein localizes to the nucleus and is essential for genome stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAD51D（NC_000017.11: g.35106801A>G） Point Mutation in A-549 Cell Line | EDC03244 | Human | 5892 | Details Get a Quote |
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