CHEK2
Summary: In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor suppressor. It contains a forkhead-associated protein interaction domain essential for activation in response to DNA damage and is rapidly phosphorylated in response to replication blocks and DNA damage. When activated, the encoded protein is known to inhibit CDC25C phosphatase, preventing entry into mitosis, and has been shown to stabilize the tumor suppressor protein p53, leading to cell cycle arrest in G1. In addition, this protein interacts with and phosphorylates BRCA1, allowing BRCA1 to restore survival after DNA damage. Mutations in this gene have been linked with Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in TP53. Also, mutations in this gene are thought to confer a predisposition to sarcomas, breast cancer, and brain tumors. This nuclear protein is a member of the CDS1 subfamily of serine/threonine protein kinases. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:604373 Ensembl IDEnsembl:ENSG00000183765 HGNC IDHGNC:HGNC:16627 PHARMGKB IDPA404 Map Location22q12.1 |
GO terms in CHEK2
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
CC | IDA | GO:0000781 | chromosome, telomeric region |
CC | IBA | GO:0005634 | nucleus |
CC | IDA | GO:0005654 | nucleoplasm |
CC | TAS | GO:0005654 | nucleoplasm |
CC | IBA | GO:0005737 | cytoplasm |
CC | IDA | GO:0005794 | Golgi apparatus |
Gene expression in normal tissue: CHEK2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CHEK2
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-1640170 | Cell Cycle |
reactome | R-HSA-212436 | Generic Transcription Pathway |
reactome | R-HSA-3700989 | Transcriptional Regulation by TP53 |
reactome | R-HSA-5633007 | Regulation of TP53 Activity |
reactome | R-HSA-5693532 | DNA Double-Strand Break Repair |
reactome | R-HSA-5693565 | Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in CHEK2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
---|---|---|---|---|---|---|---|---|
No matching records found |