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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?
Where is the CHEK2 gene located?
Cytogenetic Location: 22q12.1
Molecular Location on chromosome 22: base pairs 29,083,730 to 29,137,821
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 29,083,730 to base pair 29,137,821 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?
See How are genetic conditions and genes named? in the Handbook.
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 ; deletion ; DNA ; DNA damage ; gene ; 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.