RAD50 Gene
RAD50 Double Strand Break Repair Protein
Gene Information Card
| Symbol | RAD50 |
|---|---|
| Full Name | RAD50 double strand break repair protein |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 10111 ncbi.nlm.nih.gov/gene/10111 |
| Ensembl ID | ENSG00000113522 |
| UniProt ID | Q92878 |
| OMIM ID | 604040 |
| HGNC ID | 9816 |
| Aliases | hRAD50, NBSLD, RAD50 homolog |
Description
RAD50 encodes a protein that forms part of the MRN complex (MRE11-RAD50-NBS1), essential for DNA double-strand break repair, telomere maintenance, and cell cycle checkpoint activation. The protein has ATPase activity and binds DNA ends, facilitating repair by homologous recombination and non-homologous end joining.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nijmegen breakage syndrome-like disorder (NBSLD) | Loss-of-function mutations in RAD50 impair MRN complex function, leading to genomic instability and immunodeficiency. | OMIM #613078 |
| Breast cancer susceptibility | RAD50 truncating variants (e.g., p.Gln752*) increase risk of breast cancer via defective DNA repair. | PMID: 21988838 |
| Colorectal cancer | Somatic mutations in RAD50 contribute to chromosomal instability in colorectal tumors. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Bone marrow | 9.8 | Medium |
| Lymph node | 8.5 | Medium |
| Brain | 4.2 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| K562 | 11.4 | Leukemia cell line |
| HepG2 | 6.7 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2251C>T (p.Gln751*) | Nonsense | <0.01% | Loss of function; associated with NBSLD |
| c.687delT (p.Phe229Leufs*18) | Frameshift | <0.01% | Loss of function; breast cancer risk |
| c.3161G>A (p.Arg1054Gln) | Missense | 0.02% | Unknown significance; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt ATPase activity impair DNA repair and cause genomic instability.
Gain of Function (GOF)
Not reported for RAD50.
Dominant Negative (DN)
Some missense mutations (e.g., in the ATPase domain) may interfere with MRN complex assembly, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • DNA double-strand break repair (GO:0006302) | • Telomere maintenance (GO:0000723) |
| • ATP binding (GO:0005524) | • Protein homodimerization activity (GO:0042803) |
| • DNA binding (GO:0003677) |
Pathways
• Homologous recombination (Reactome R-HSA-5695940)
• Non-homologous end joining (Reactome R-HSA-5693567)
• ATM signaling (Reactome R-HSA-5693565)
Protein Summary
RAD50 is a 1312-amino acid protein with a globular ATPase domain at the N-terminus and a coiled-coil region that mediates dimerization and interaction with MRE11 and NBS1. It functions as a DNA tethering and processing enzyme, critical for sensing and repairing double-strand breaks.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAD50 Knockout HEK293 Cell Line | EDJ-KQ50932 | Human | 10111 | Details Get a Quote |
| RAD50 Knockout HeLa Cell Line | EDJ-KQ55321 | Human | 10111 | Details Get a Quote |
| RAD50 Knockout A-549 Cell Line | EDJ-KQ63804 | Human | 10111 | Details Get a Quote |
| RAD50 Knockout HCT 116 Cell Line | EDJ-KQ72262 | Human | 10111 | Details Get a Quote |
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