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Reviewed August 2007

What is the official name of the CHEK2 gene?

The official name of this gene is “checkpoint kinase 2.”

CHEK2 is the gene's official symbol. The CHEK2 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the CHEK2 gene?

The CHEK2 gene provides instructions for making a protein called checkpoint kinase 2 (CHK2). This protein acts as a tumor suppressor, which means that it regulates cell division by keeping cells from growing and dividing too rapidly or in an uncontrolled way.

The CHK2 protein is activated when DNA becomes damaged or when DNA strands break. DNA can be damaged by agents such as toxic chemicals, radiation, or ultraviolet (UV) rays from sunlight, and breaks in DNA strands also occur naturally when chromosomes exchange genetic material.

In response to DNA damage, the CHK2 protein interacts with several other proteins, including tumor protein 53 (which is produced from the TP53 gene). These proteins halt cell division and determine whether a cell will repair the damage or self-destruct in a controlled manner (undergo apoptosis). This process keeps cells with mutated or damaged DNA from dividing, which helps prevent the development of tumors.

How are changes in the CHEK2 gene related to health conditions?

Li-Fraumeni syndrome - associated with the CHEK2 gene

Although most cases of Li-Fraumeni syndrome are associated with mutations in the TP53 gene, CHEK2 gene mutations have been identified in several families with cancers characteristic of this condition. At least one family has a mutation that deletes a single DNA building block (nucleotide) at position 1100 in the CHEK2 gene (written as 1100delC). The 1100delC mutation leads to the production of an abnormally short, nonfunctional version of the CHK2 protein. Researchers are uncertain whether CHEK2 gene mutations actually cause Li-Fraumeni syndrome or are merely associated with an increased risk of several types of cancer, including those cancers often seen in Li-Fraumeni syndrome.

other cancers - associated with the CHEK2 gene

Mutations in the CHEK2 gene, including the 1100delC mutation described above, have also been found in other hereditary and nonhereditary (sporadic) cancers affecting many of the body's organs and tissues. Although the full range of cancers associated with CHEK2 mutations has not been determined, studies have associated mutations in this gene with prostate, breast, lung, colon, kidney, thyroid, and ovarian cancers. CHEK2 mutations have also been found in some brain tumors and in a type of bone cancer called osteosarcoma.

Genetics Home Reference provides additional information about these conditions associated with changes in the CHEK2 gene:

Where is the CHEK2 gene located?

Cytogenetic Location: 22q12.1

Molecular Location on chromosome 22: base pairs 28,687,743 to 28,741,905

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

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.

More precisely, the CHEK2 gene is located from base pair 28,687,743 to base pair 28,741,905 on chromosome 22.

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

Where can I find additional 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 checkpoint homolog (S. pombe)
  • 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 ; cell division ; colon ; DNA ; DNA damage ; gene ; hereditary ; kidney ; kinase ; mutation ; nucleotide ; osteosarcoma ; ovarian ; prostate ; protein ; radiation ; serine ; sporadic ; syndrome ; threonine ; thyroid ; toxic ; tumor

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

See also Understanding Medical Terminology.

References (12 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.

Reviewed: August 2007
Published: February 8, 2016