| GENE NAME | RAD50 |
| CHROMOSOME | 5 |
| ENSEMBL ID | ENSG00000113522 |
| ENTREZ ID | 10111 |
| UNIPROT ACCESSION NUMBER | Q92878 |
| GO MOLECULAR FUNCTION | DNA helicase activity; protein binding; ATP hydrolysis activity; protein-macromolecule adaptor activity; identical protein binding; DNA binding; single-stranded telomeric DNA binding; single-stranded DNA endodeoxyribonuclease activity; metal ion binding; 3'-5' exonuclease activity; ATP binding; double-stranded telomeric DNA binding; G-quadruplex DNA binding |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-5693538; R-HSA-2559586; hsa03440; R-HSA-6804756; hsa04218; R-HSA-69473; R-HSA-73894; hsa03450; R-HSA-2559583; R-HSA-5693579; R-HSA-5693565; R-HSA-5693568; R-HSA-1474165; R-HSA-5693571; hsa03440; R-HSA-1640170; hsa04218; R-HSA-212436; R-HSA-3700989; R-HSA-5685942; R-HSA-5693548; R-HSA-69481; hsa03450; R-HSA-5693607; R-HSA-5633007; R-HSA-5693554; R-HSA-1500620; R-HSA-5693616; R-HSA-8953897; R-HSA-5685938; R-HSA-5693532; R-HSA-74160; R-HSA-912446; R-HSA-2262752; R-HSA-5693606; R-HSA-5693537; R-HSA-5685939; R-HSA-69620; R-HSA-5693567; R-HSA-73857 |
| 1 combination linked to RAD50 | OLI1046 |
| 1 variant linked to RAD50 | RAD50:c.2165dupA, p.Glu723GlyfsTer5 |
| 1 disease linked to RAD50 | Primary ovarian failure |