Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions  
 
A service of the U.S. National Library of Medicine®
Home   What's New   Browse   Handbook   Glossary   Resources   About   Help    Search 
 
 
Printer-friendly version
CHEK2

CHEK2

CHK2 checkpoint homolog (S. pombe)

What is the normal function of the CHEK2 gene?

The CHEK2 gene is believed to be a tumor suppressor gene. This means that the protein made by the gene regulates the cycle of cell division by keeping cells from growing and dividing too fast or in an uncontrolled way.

The CHEK2 protein is activated when the DNA in a cell becomes damaged or when DNA strands break. DNA can be damaged by radiation or chemicals, but breaks in DNA strands also occur naturally when chromosomes exchange genetic material. The CHEK2 protein interacts with another tumor suppressor, tumor protein p53 (made by the TP53 gene), to stop the cycle of cell division in response to DNA damage. The CHEK2 protein also regulates the protein made by the BRCA1 gene (a tumor suppressor gene associated with an increased risk of breast cancer). These proteins play important roles in determining whether a damaged cell will undergo programmed cell death (apoptosis) or repair the damaged DNA. This process prevents cells with mutated or damaged DNA from dividing, which helps prevent the development of tumors.

What conditions are related to the CHEK2 gene?

breast cancer - increased risk from variations of the CHEK2 gene

A specific mutation in the CHEK2 gene is associated with a moderately increased risk of breast cancer. The mutation is a deletion of a single nucleotide (the building material of DNA) at position 1100 of the CHEK2 gene. (This mutation can be written as 1100delC.) The 1100delC mutation leads to the production of an abnormally short, nonfunctional protein. Without the CHEK2 protein, cells are unable to regulate cell division properly. As a result, DNA damage accumulates, and cells can divide without control or order. If the cycle of cell division is not tightly controlled, cancerous tumors can develop.

Li-Fraumeni syndrome - associated with the CHEK2 gene

Mutations in the CHEK2 gene have been identified in several families with cancers characteristic of Li-Fraumeni syndrome. The 1100delC mutation was identified in one of these families. Although mutations in the CHEK2 gene may be associated with an increased risk of some cancers, it is uncertain whether they cause Li-Fraumeni syndrome.

other cancers - associated with the CHEK2 gene

Mutations in the CHEK2 gene have also been found in several other types of hereditary and sporadic (not inherited) cancers. Research studies have associated CHEK2 mutations with prostate, lung, and ovarian cancers; brain tumors; and osteosarcomas.

Where is the CHEK2 gene located?

22q12.1

The CHEK2 gene is located on the long (q) arm of chromosome 22 at position 12.1.

The CHEK2 gene is located on the long (q) arm of chromosome 22 at position 12.1.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find information about CHEK2?

You and your healthcare professional may find the following resources about CHEK2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CHEK2 gene or gene products?

  • CDS1
  • Cds1 kinase
  • checkpoint-like protein CHK2
  • CHK2
  • CHK2_HUMAN
  • Chk2 protein kinase
  • hCds1 protein
  • hCHK2
  • HuCds1
  • RAD53
  • serine/threonine-protein kinase CHK2

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding CHEK2?

apoptosis ; cancer ; cell division ; chromosome ; deletion ; DNA ; DNA damage ; gene ; homologs ; kinase ; mutation ; nucleotide ; osteosarcoma ; prostate ; protein ; Radiation ; serine ; sporadic ; threonine ; tumor ; tumor suppressor gene

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

 
Sources for this page (11 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Last Comprehensive Review: July 2004
Updated: July 27, 2004
Published: October 18, 2004

Contact NLM Customer ServiceThis link leads to a site outside Genetics Home Reference.
Lister Hill National Center for Biomedical CommunicationsThis link leads to a site outside Genetics Home Reference.
U.S. National Library of MedicineThis link leads to a site outside Genetics Home Reference., National Institutes of HealthThis link leads to a site outside Genetics Home Reference., Department of Health & Human ServicesThis link leads to a site outside Genetics Home Reference.
Freedom of Information ActThis link leads to a site outside Genetics Home Reference. CopyrightThis link leads to a site outside Genetics Home Reference. PrivacyThis link leads to a site outside Genetics Home Reference. AccessibilityThis link leads to a site outside Genetics Home Reference. FirstGov.govThis link leads to a site outside Genetics Home Reference.
Selection Criteria for Web Links
This link leads to a site outside Genetics Home Reference. Indicates a page outside Genetics Home Reference.