RAD50
Summary: The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:604040 Ensembl IDEnsembl:ENSG00000113522 HGNC IDHGNC:HGNC:9816 PHARMGKB IDPA34175 Map Location5q31.1 | |||||
GO terms in RAD50
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IDA | GO:0000019 | regulation of mitotic recombination |
| BP | IBA | GO:0000722 | telomere maintenance via recombination |
| BP | TAS | GO:0000723 | telomere maintenance |
| BP | TAS | GO:0000724 | double-strand break repair via homologous recombination |
| BP | TAS | GO:0000729 | DNA double-strand break processing |
| BP | TAS | GO:0006260 | DNA replication |
Gene expression in normal tissue: RAD50
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in RAD50
Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | atrbrcapathway | role of brca1 brca2 and atr in cancer susceptibility |
| reactome | R-HSA-1474165 | Reproduction |
| reactome | R-HSA-1500620 | Meiosis |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in RAD50
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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