RAD51AP2
RAD51 Associated Protein 2
Gene Information Card
| Symbol | RAD51AP2 |
|---|---|
| Full Name | RAD51 Associated Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 729533 ncbi.nlm.nih.gov/gene/729533 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | Q5T890 |
| OMIM ID | 620200 |
| HGNC ID | 34480 |
| Aliases | C2orf86, FLJ46309 |
Description
RAD51AP2 (RAD51 Associated Protein 2) is a protein-coding gene located on chromosome 2q33.1. It encodes a protein that interacts with RAD51, a key player in homologous recombination-mediated DNA repair. RAD51AP2 is thought to modulate RAD51 activity during DNA double-strand break repair, though its precise cellular functions are still under investigation. Expression data suggest roles in testis and certain cancer cell lines.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Potential role in homologous recombination repair; altered expression may contribute to genomic instability | COSMIC; limited literature |
| Ovarian Cancer | Similar mechanism as breast cancer; expression changes observed | COSMIC; limited literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone Marrow | 3.2 | Low |
| Lymph Node | 2.1 | Low |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.5 | Moderate expression |
| HeLa | 2.3 | Low expression |
| MCF7 | 1.1 | Low expression |
| K562 | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Ile) | Missense | <0.1% | Unknown functional impact |
| c.205G>A (p.Gly69Ser) | Missense | <0.1% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • homologous recombination |
| • protein binding | • nucleus |
Pathways
• Homologous recombination
• DNA double-strand break repair
Protein Summary
RAD51AP2 is a 305-amino acid protein that localizes to the nucleus and interacts with RAD51. It is believed to assist in the stabilization or regulation of RAD51 filaments during homologous recombination. The protein is predominantly expressed in testis and at lower levels in other tissues. Its exact biochemical role remains to be fully elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAD51AP2 Knockout HEK293 Cell Line | EDJ-KQ14986 | Human | 729475 | Details Get a Quote |
| RAD51AP2 Knockout HeLa Cell Line | EDJ-KQ60754 | Human | 729475 | Details Get a Quote |
| RAD51AP2 Knockout A-549 Cell Line | EDJ-KQ69223 | Human | 729475 | Details Get a Quote |
| RAD51AP2 Knockout HCT 116 Cell Line | EDJ-KQ77580 | Human | 729475 | Details Get a Quote |
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