RAD50 double strand break repair protein
| GO Term | Evidence Code | PMID |
|---|---|---|
| regulation of mitotic recombination |
|
|
| telomere maintenance via recombination |
|
|
| telomere maintenance |
|
|
| telomere maintenance |
|
|
| double-strand break repair via homologous recombination |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| single-stranded DNA endonuclease activity |
|
|
| DNA binding |
|
|
| DNA helicase activity |
|
|
| double-stranded telomeric DNA binding |
|
|
| protein binding |
|
| Gene Ontology |
|---|
| ATP binding |
| DNA duplex unwinding |
| DNA repair |
| G-quadruplex DNA binding |
| chromosome organization involved in meiotic cell cycle |
| double-strand break repair |
| double-stranded telomeric DNA binding |
| hydrolase activity |
| metal ion binding |
| nucleotide binding |
| InterPro |
|---|
| DNA repair protein Rad50, eukaryotes |
| P-loop containing nucleoside triphosphate hydrolase |
| RAD50, zinc hook |
| Rad50/SbcC-type AAA domain |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:2671 | transitional cell carcinoma |
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000320 | Bird-like facies |
| HP:0000540 | Hypermetropia |
| HP:0001249 | Intellectual disability |
| HP:0001251 | Ataxia |
| HP:0001257 | Spasticity |
| HP:0001510 | Growth delay |
| HP:0002861 | Melanoma |
| HP:0002894 | Neoplasm of the pancreas |
| Disease ID | Disease Name |
|---|---|
| ORPHA:145 |
|
| OMIM:613078 |
|
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: April 6, 2026