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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:604373
PHARMGKB IDPA404
Map Location22q12.1

GO terms in CHEK2


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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
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Gene expression in normal tissue: CHEK2

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

undefined40PI3K/MTOR signaling4Chromatin histone acetylation3Other, kinases2Biosynthesis of secondary metabolites2Apoptosis regulation2Genome integrity2Metabolism1Purine metabolism1Protein stability and degradation1

Pathways in CHEK2


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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
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD433 Lexibulin 4
iGMDRD313 Axitinib 1
iGMDRD151 CHM-1 3
iGMDRD420 Leucascandrolide A 3
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CHEK2

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
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