CHEK2

checkpoint kinase 2

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]

Known Variants1,930 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs17879961	22:29,083,384	T/C	missense variant	pathogenic
rs540410451	22:29,083,826	G/A	—	uncertain significance
rs1379211333	22:29,083,837	T/A	—	uncertain significance
rs1299920296	22:29,083,859	T/C	—	uncertain significance
rs1057523052	22:29,083,866	C/T	—	likely benign
rs17884403	22:29,083,867	G/A	—	conflicting classifications of pathogenicity
rs1057522648	22:29,083,869	G/A	—	likely benign
rs2052178966	22:29,083,875	A/C	—	conflicting classifications of pathogenicity
rs121908710	22:29,083,878	A/G	—	conflicting classifications of pathogenicity
rs775315910	22:29,083,879	C/T	—	likely benign
rs587781367	22:29,083,880	G/A	—	conflicting classifications of pathogenicity
rs1555911522	22:29,083,883	G/A	—	conflicting classifications of pathogenicity
rs2517746537	22:29,083,885	T/A	—	uncertain significance
rs2052179845	22:29,083,887	A/C	—	uncertain significance
rs2517746590	22:29,083,888	C/T	—	likely benign
rs2145736622	22:29,083,889	A/G	—	conflicting classifications of pathogenicity
rs2052179967	22:29,083,890	A/C	—	uncertain significance
rs2145736707	22:29,083,891	C/T	—	likely benign
rs2145736771	22:29,083,892	A/G	—	uncertain significance
rs2145736805	22:29,083,893	C/T	—	uncertain significance
rs773670297	22:29,083,894	A/G	—	likely benign
rs2052180370	22:29,083,895	G/A	—	uncertain significance
rs1194893297	22:29,083,897	A/G	—	likely benign
rs1569101970	22:29,083,898	G/A	—	uncertain significance
rs767414081	22:29,083,899	C/T	—	conflicting classifications of pathogenicity
rs2145737011	22:29,083,900	A/G	—	likely benign
rs1569101993	22:29,083,901	C/T	—	uncertain significance
rs750337711	22:29,083,903	C/T	—	likely benign
rs1064794950	22:29,083,905	C/T	—	uncertain significance
rs1057521299	22:29,083,906	A/T	—	likely benign
rs1064795821	22:29,083,907	G/A	—	conflicting classifications of pathogenicity
rs1175957439	22:29,083,908	C/T	—	uncertain significance
rs17886242	22:29,083,909	T/C	—	likely benign
rs1601697447	22:29,083,910	G/C	—	uncertain significance
rs2145737342	22:29,083,911	G/A	—	uncertain significance
rs2145737381	22:29,083,912	G/A	—	likely benign
rs544216926	22:29,083,913	C/T	—	conflicting classifications of pathogenicity
rs576248104	22:29,083,914	G/A	—	uncertain significance
rs1569102099	22:29,083,915	C/T	—	likely benign
rs1555911558	22:29,083,917	T/C	—	uncertain significance
rs1569102119	22:29,083,919	G/C	—	uncertain significance
rs562517792	22:29,083,920	T/C	—	conflicting classifications of pathogenicity
rs2145737656	22:29,083,921	G/T	—	likely benign
rs758555487	22:29,083,924	C/T	—	conflicting classifications of pathogenicity
rs1569102183	22:29,083,925	T/C	—	uncertain significance
rs587781710	22:29,083,926	C/G	—	uncertain significance
rs786201796	22:29,083,927	G/A	—	likely benign
rs2145737882	22:29,083,928	G/A	—	uncertain significance
rs1444665408	22:29,083,929	C/T	—	conflicting classifications of pathogenicity
rs1601697668	22:29,083,930	A/G	—	likely benign
rs751653049	22:29,083,931	C/T	—	conflicting classifications of pathogenicity
rs2145738037	22:29,083,932	C/T	—	uncertain significance
rs1601697687	22:29,083,934	T/C	—	uncertain significance
rs138040612	22:29,083,935	C/T	—	uncertain significance
rs781593101	22:29,083,936	G/A	—	likely benign
rs1601697744	22:29,083,937	G/A	—	uncertain significance
rs1555911583	22:29,083,938	C/A	—	uncertain significance
rs746341976	22:29,083,940	T/C	—	uncertain significance
rs1555911587	22:29,083,941	C/T	—	uncertain significance
rs770307891	22:29,083,942	C/G	—	likely benign
rs1212728170	22:29,083,943	C/T	—	uncertain significance
rs780512032	22:29,083,944	C/T	—	uncertain significance
rs876658872	22:29,083,947	C/T	—	uncertain significance
rs748954413	22:29,083,948	A/T	—	likely benign
rs948928965	22:29,083,949	C/T	—	conflicting classifications of pathogenicity
rs149501505	22:29,083,950	G/A	—	conflicting classifications of pathogenicity
rs202104749	22:29,083,951	G/A	—	conflicting classifications of pathogenicity
rs2145738801	22:29,083,952	G/T	—	uncertain significance
rs2052186545	22:29,083,953	G/A	—	conflicting classifications of pathogenicity
rs761278013	22:29,083,954	C/T	—	likely benign
rs373959274	22:29,083,955	C/T	—	uncertain significance
rs533475838	22:29,083,956	G/A	—	uncertain significance
rs1601698058	22:29,083,957	C/T	—	conflicting classifications of pathogenicity
rs1555911613	22:29,083,959	T/G	—	uncertain significance
rs1555911615	22:29,083,960	T/G	—	likely benign
rs587780180	22:29,083,961	C/T	—	conflicting classifications of pathogenicity
rs200432447	22:29,083,962	G/C	missense variant	uncertain significance
rs2052188413	22:29,083,964	C/T	—	uncertain significance
rs753560465	22:29,083,965	T/A	—	uncertain significance
rs2145739341	22:29,083,966	A/T	—	likely benign
rs1555911629	22:29,083,967	G/C	—	uncertain significance
rs1555911631	22:29,083,968	T/A	—	uncertain significance
rs2145739425	22:29,083,969	A/G	—	likely benign
rs1601698243	22:29,083,970	G/C	—	uncertain significance
rs2517749588	22:29,083,971	A/G	—	uncertain significance
rs1601698296	22:29,083,972	A/C	—	likely benign
rs2052189910	22:29,083,973	G/A	—	uncertain significance
rs1399879170	22:29,083,974	G/T	—	uncertain significance
rs2052190289	22:29,083,975	C/T	—	likely pathogenic
rs1160973224	22:29,083,976	T/G	—	likely pathogenic
rs759366945	22:29,083,977	G/C	—	uncertain significance
rs2145739718	22:29,083,978	A/G	—	likely benign
rs2145739730	22:29,083,981	A/G	—	likely benign
rs1555911654	22:29,083,984	A/C	—	likely benign
rs1555911657	22:29,083,986	G/C	—	likely benign
rs2145739827	22:29,083,987	G/A	—	likely benign
rs764277564	22:29,083,990	A/C	—	likely benign
rs551645416	22:29,083,994	G/C	—	likely benign
rs2517750038	22:29,084,011	A/C	—	likely benign
rs17881275	22:29,084,142	C/T	—	likely benign

Showing 100 of 1,930 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.