RAD52
RAD52 Homolog, DNA Repair Protein
Gene Information Card
| Symbol | RAD52 |
|---|---|
| Full Name | RAD52 Homolog, DNA Repair Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.33 |
| NCBI Gene ID | 5893 ncbi.nlm.nih.gov/gene/5893 |
| Ensembl ID | ENSG00000102054 |
| UniProt ID | P43351 |
| OMIM ID | 600392 |
| HGNC ID | 9824 |
| Aliases | RAD52, RAD52 homolog |
Description
RAD52 is a key player in homologous recombination (HR) and DNA double-strand break repair. It facilitates the annealing of complementary single-stranded DNA and interacts with RAD51 to promote strand exchange. RAD52 is essential for repair in the absence of BRCA2 and is implicated in genome stability and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi Anemia | RAD52 deficiency impairs HR repair, leading to genomic instability | PMID: 23334668 |
| Breast Cancer | RAD52 overexpression may compensate for BRCA1/2 loss in HR | PMID: 28288103 |
| Acute Myeloid Leukemia | RAD52 mutations linked to clonal hematopoiesis and AML risk | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Bone Marrow | 12.8 | Medium |
| Lymph Node | 10.5 | Medium |
| Brain | 4.3 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 18.5 | Leukemia cell line |
| HeLa | 14.2 | Cervical cancer cell line |
| MCF7 | 11.0 | Breast cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1039C>T (p.Arg347*) | Nonsense | <0.01% | Loss of function, truncation |
| c.684_685del (p.Glu229fs) | Frameshift | <0.01% | Loss of function |
| c.997G>A (p.Gly333Arg) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause premature truncation, impairing DNA repair.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA recombination | • DNA repair |
| • double-strand break repair via homologous recombination | • single-stranded DNA binding |
| • protein homodimerization activity |
Pathways
• Homologous recombination (KEGG: hsa03440)
• Fanconi anemia pathway (KEGG: hsa03460)
• DNA double-strand break repair
Protein Summary
RAD52 is a 418-amino acid protein that forms heptameric rings. It binds single-stranded DNA ends and promotes annealing, critical for homologous recombination. It also interacts with RAD51 and the BRCA1/BRCA2 complex. RAD52 is a potential therapeutic target in BRCA-deficient cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAD52 Knockout HEK293 Cell Line | EDJ-KQ2266 | Human | 5893 | Details Get a Quote |
| RAD52 Knockout A-549 Cell Line | EDJ-KQ22601 | Human | 5893 | Details Get a Quote |
| RAD52 Knockout HCT 116 Cell Line | EDJ-KQ22602 | Human | 5893 | Details Get a Quote |
| RAD52 Knockout HeLa Cell Line | EDJ-KQ22603 | Human | 5893 | Details Get a Quote |
