Reviewed August 2007
What is the official name of the STK11 gene?
The official name of this gene is “serine/threonine kinase 11.”
STK11 is the gene's official symbol. The STK11 gene is also known by other names, listed below.
What is the normal function of the STK11 gene?
The STK11 gene (also called LKB1) provides instructions for making an enzyme called serine/threonine kinase 11. This enzyme is a tumor suppressor, which means that it helps keep cells from growing and dividing too fast or in an uncontrolled way. In addition to its role in regulating cell division, this enzyme helps certain types of cells correctly orient themselves within tissues (polarization) and assists in determining the amount of energy a cell uses. This kinase also promotes a type of programmed cell death known as apoptosis. Through a combination of these mechanisms, serine/threonine kinase 11 aids in the prevention of tumors, especially in the gastrointestinal tract, pancreas, cervix, ovaries, and breasts. Serine/threonine kinase 11 function is also required for normal development before birth.
How are changes in the STK11 gene related to health conditions?
- Peutz-Jeghers syndrome - caused by mutations in the STK11 gene
Researchers have identified more than 200 mutations in the STK11 gene that cause Peutz-Jeghers syndrome, a condition characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract and a greatly increased risk of developing certain types of cancer. Many of these mutations result in the production of an abnormally short, nonfunctional version of the serine/threonine kinase 11 enzyme. Other mutations change single protein building blocks (amino acids) used to build the enzyme. Mutations in the STK11 gene impair the enzyme's tumor suppressor function, allowing cells to divide too often. The resulting uncontrolled cell growth can lead to the formation of hamartomatous polyps and cancerous tumors.
- breast cancer - increased risk from variations of the STK11 gene
Changes in the STK11 gene increase the risk of developing breast cancer as part of Peutz-Jeghers syndrome (described above). These inherited mutations are thought to account for only a small fraction of all breast cancer cases.
- other cancers - associated with the STK11 gene
Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are called somatic mutations, are not inherited. Somatic mutations in the STK11 gene are uncommon in most types of cancer. However, these mutations have been found in a form of lung cancer called non-small cell lung carcinoma, an aggressive type of skin cancer called melanoma, and some cases of pancreatic cancer. These mutations impair the function of serine/threonine kinase 11, which can allow cells to grow and divide uncontrollably and lead to the formation of a cancerous tumor.
Where is the STK11 gene located?
Cytogenetic Location: 19p13.3
Molecular Location on chromosome 19: base pairs 1,205,797 to 1,228,433
The STK11 gene is located on the short (p) arm of chromosome 19 at position 13.3.
More precisely, the STK11 gene is located from base pair 1,205,797 to base pair 1,228,433 on chromosome 19.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about STK11?
You and your healthcare professional may find the following resources about STK11 helpful.
Educational resources - Information pages
- Cancer Syndromes (2009): Peutz-Jeghers Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1826/)
- National Cancer Institute: Genetics of Breast and Ovarian Cancer (PDQ) (http://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/page2)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pjs)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for STK11 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6794%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((STK11%5BTIAB%5D)%20OR%20(serine/threonine%20kinase%2011%5BTIAB%5D))%20OR%20((LKB1%5BTIAB%5D)%20OR%20(PJS%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/602216)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_STK11.html)
- Cancer Genetics Web: STK11 (http://www.cancerindex.org/geneweb/STK11.htm)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/6794)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=6794)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=11389)
What other names do people use for the STK11 gene or gene products?
- serine/threonine kinase 11 (Peutz-Jeghers syndrome)
- Serine/threonine-protein kinase 11
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding STK11?
cell division ;
threonine kinase ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/6794)
- Fenton H, Carlile B, Montgomery EA, Carraway H, Herman J, Sahin F, Su GH, Argani P. LKB1 protein expression in human breast cancer. Appl Immunohistochem Mol Morphol. 2006 Jun;14(2):146-53. (http://www.ncbi.nlm.nih.gov/pubmed/16785781?dopt=Abstract)
- Forcet C, Etienne-Manneville S, Gaude H, Fournier L, Debilly S, Salmi M, Baas A, Olschwang S, Clevers H, Billaud M. Functional analysis of Peutz-Jeghers mutations reveals that the LKB1 C-terminal region exerts a crucial role in regulating both the AMPK pathway and the cell polarity. Hum Mol Genet. 2005 May 15;14(10):1283-92. Epub 2005 Mar 30. (http://www.ncbi.nlm.nih.gov/pubmed/15800014?dopt=Abstract)
- Guldberg P, thor Straten P, Ahrenkiel V, Seremet T, Kirkin AF, Zeuthen J. Somatic mutation of the Peutz-Jeghers syndrome gene, LKB1/STK11, in malignant melanoma. Oncogene. 1999 Mar 4;18(9):1777-80. (http://www.ncbi.nlm.nih.gov/pubmed/10208439?dopt=Abstract)
- Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, Bignell G, Warren W, Aminoff M, Höglund P, Järvinen H, Kristo P, Pelin K, Ridanpää M, Salovaara R, Toro T, Bodmer W, Olschwang S, Olsen AS, Stratton MR, de la Chapelle A, Aaltonen LA. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature. 1998 Jan 8;391(6663):184-7. (http://www.ncbi.nlm.nih.gov/pubmed/9428765?dopt=Abstract)
- Hernan I, Roig I, Martin B, Gamundi MJ, Martinez-Gimeno M, Carballo M. De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndrome. Clin Genet. 2004 Jul;66(1):58-62. (http://www.ncbi.nlm.nih.gov/pubmed/15200509?dopt=Abstract)
- Katajisto P, Vallenius T, Vaahtomeri K, Ekman N, Udd L, Tiainen M, Mäkelä TP. The LKB1 tumor suppressor kinase in human disease. Biochim Biophys Acta. 2007 Jan;1775(1):63-75. Epub 2006 Aug 16. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17010524?dopt=Abstract)
- Launonen V. Mutations in the human LKB1/STK11 gene. Hum Mutat. 2005 Oct;26(4):291-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16110486?dopt=Abstract)
- Lim W, Hearle N, Shah B, Murday V, Hodgson SV, Lucassen A, Eccles D, Talbot I, Neale K, Lim AG, O'Donohue J, Donaldson A, Macdonald RC, Young ID, Robinson MH, Lee PW, Stoodley BJ, Tomlinson I, Alderson D, Holbrook AG, Vyas S, Swarbrick ET, Lewis AA, Phillips RK, Houlston RS. Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br J Cancer. 2003 Jul 21;89(2):308-13. (http://www.ncbi.nlm.nih.gov/pubmed/12865922?dopt=Abstract)
- Marignani PA. LKB1, the multitasking tumour suppressor kinase. J Clin Pathol. 2005 Jan;58(1):15-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15623475?dopt=Abstract)
- Rowan A, Bataille V, MacKie R, Healy E, Bicknell D, Bodmer W, Tomlinson I. Somatic mutations in the Peutz-Jeghers (LKB1/STKII) gene in sporadic malignant melanomas. J Invest Dermatol. 1999 Apr;112(4):509-11. (http://www.ncbi.nlm.nih.gov/pubmed/10201537?dopt=Abstract)
- Spicer J, Ashworth A. LKB1 kinase: master and commander of metabolism and polarity. Curr Biol. 2004 May 25;14(10):R383-5. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15186763?dopt=Abstract)
- Su GH, Hruban RH, Bansal RK, Bova GS, Tang DJ, Shekher MC, Westerman AM, Entius MM, Goggins M, Yeo CJ, Kern SE. Germline and somatic mutations of the STK11/LKB1 Peutz-Jeghers gene in pancreatic and biliary cancers. Am J Pathol. 1999 Jun;154(6):1835-40. (http://www.ncbi.nlm.nih.gov/pubmed/10362809?dopt=Abstract)
- Zhong D, Guo L, de Aguirre I, Liu X, Lamb N, Sun SY, Gal AA, Vertino PM, Zhou W. LKB1 mutation in large cell carcinoma of the lung. Lung Cancer. 2006 Sep;53(3):285-94. Epub 2006 Jul 5. (http://www.ncbi.nlm.nih.gov/pubmed/16822578?dopt=Abstract)
- Zhuang ZG, Di GH, Shen ZZ, Ding J, Shao ZM. Enhanced expression of LKB1 in breast cancer cells attenuates angiogenesis, invasion, and metastatic potential. Mol Cancer Res. 2006 Nov;4(11):843-9. (http://www.ncbi.nlm.nih.gov/pubmed/17114342?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.