CHEK2

Also known as CDS1, CHK2, HuCds1, LFS2, PP1425, RAD53, hCds1, checkpoint kinase 2

CHEK2 (Checkpoint kinase 2) is a tumor suppressor gene that encodes the protein CHK2, a serine-threonine kinase. CHK2 is involved in DNA repair, cell cycle arrest or apoptosis in response to DNA damage. Mutations to the CHEK2 gene have been linked to a wide range of cancers.

Gene data

CHEK2

Name: checkpoint kinase 2
Type: protein-coding
Position: 28,687,738–28,742,422 (−)
Aliases: CDS1, CHK2, HuCds1, LFS2, PP1425, RAD53, TPDS4, hCds1
Ensembl: ENSG00000183765
RefSeq RNA: NM_001005735.3, NM_001257387.3, NM_001349956.3, NM_001437942.1, NM_001438293.1
RefSeq protein: NP_001005735.1, NP_001244316.1, NP_001336885.1, NP_001424871.1, NP_001425222.1

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].