CHEK2 gene

checkpoint kinase 2

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.

Genetics Home Reference provides information about breast cancer.

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.

Genetics Home Reference provides information about ovarian cancer.

Genetics Home Reference provides information about prostate cancer.

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.

Cytogenetic Location: 22q12.1, which is the long (q) arm of chromosome 22 at position 12.1

Molecular Location: base pairs 28,687,743 to 28,741,866 on chromosome 22 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 22q12.1, which is the long (q) arm of chromosome 22 at position 12.1
  • 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