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CHEK2

CHK2 checkpoint homolog (S. pombe)

On chromosome: 22q11
Known also as: CDS1; CHK2; LFS2; RAD53; HuCds1; PP1425;

NCBI Gene ID:	11200
NCBI Ensembl Id:	ENSG00000183765
MIM Id: (from NCBI OMIM database)	604373
Species:	Homo sapiens

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. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]

Gene sequence:

[Download sequence]

Proteins coded by this gene:

CHEK2 (CHK2) (Homo sapiens)

Diseases related to this gene:

References:

Authors	Title	Journal
Matsuoka S, Huang M, Elledge SJ	Linkage of ATM to cell cycle regulation by the Chk2 protein kinase.	Science Dec. 4, 1998
Bell DW, Varley JM, Szydlo TE, Kang DH, Wahrer DC, Shannon KE, Lubratovich M, Verselis SJ, Isselbacher KJ, Fraumeni JF, Birch JM, Li FP, Garber JE, Haber DA	Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.	Science Dec. 24, 1999
Yang S, Kuo C, Bisi JE, Kim MK	PML-dependent apoptosis after DNA damage is regulated by the checkpoint kinase hCds1/Chk2.	Nat Cell Biol Nov. 1, 2002
Qu L, Huang S, Baltzis D, Rivas-Estilla AM, Pluquet O, Hatzoglou M, Koumenis C, Taya Y, Yoshimura A, Koromilas AE	Endoplasmic reticulum stress induces p53 cytoplasmic localization and prevents p53-dependent apoptosis by a pathway involving glycogen synthase kinase-3beta.	Genes Dev Jan. 1, 2004

Last modification of this entry: Oct. 6, 2010.

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