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Genetics Home Reference: your guide to understanding genetic conditions
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STAT3

Reviewed February 2008

What is the official name of the STAT3 gene?

The official name of this gene is “signal transducer and activator of transcription 3 (acute-phase response factor).”

STAT3 is the gene's official symbol. The STAT3 gene is also known by other names, listed below.

What is the normal function of the STAT3 gene?

The STAT3 gene is part of a family known as the STAT genes. These genes provide instructions for making proteins that are part of essential chemical signaling pathways within cells. When STAT proteins are activated by certain chemical signals, they move into the nucleus and attach (bind) to specific areas of DNA. By binding to regulatory regions near genes, STAT proteins can regulate whether these genes are turned on or off. STAT proteins are called transcription factors on the basis of this action.

The STAT3 protein is involved in many cellular functions. It regulates genes that are involved in cell growth and division, cell movement, and the self-destruction of cells (apoptosis). The STAT3 protein is active in tissues throughout the body. It plays an important role in the development and function of several body systems and is essential for life. In the immune system, the STAT3 protein transmits signals that help control the body's response to foreign invaders such as bacteria and fungi. In particular, the protein is involved in the regulation of inflammation, which is one way the immune system responds to infection or injury. In the skeletal system, the STAT3 protein is involved in the formation of specialized cells that build and break down bone tissue. These cells are necessary for the normal development and maintenance of bones.

Does the STAT3 gene share characteristics with other genes?

The STAT3 gene belongs to a family of genes called SH2 domain containing (SH2 domain containing).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the STAT3 gene related to health conditions?

Job syndrome - caused by mutations in the STAT3 gene

At least 16 mutations in the STAT3 gene have been identified in people with Job syndrome. Most of these mutations change a single protein building block (amino acid) in the STAT3 protein. These mutations occur in regions of the protein that are critical for its activation or its ability to bind to DNA.

Little is known about the effects of STAT3 mutations on the body's cells and tissues. Researchers suspect that changes in this gene alter the structure and function of the STAT3 protein, impairing its ability to control the activity of other genes. The defective protein disrupts cellular functions such as immune system regulation. The resulting immune system abnormalities make people with Job syndrome highly susceptible to infections, particularly bacterial and fungal infections affecting the lungs and skin. Additionally, the role of STAT3 protein in the formation and maintenance of bone tissue may help explain why STAT3 gene mutations lead to the skeletal and dental abnormalities characteristic of this condition.

cancers - associated with the STAT3 gene

The STAT3 protein has been found to be overactive in several common forms of cancer. For example, abnormal STAT3 protein activation has been identified in many cancers of the breast, prostate, and pancreas, as well as cancers of blood-forming cells (leukemia and lymphoma).

Normally, the STAT3 protein is switched on and off in response to signals that control cell growth and development. A continuously active version of this protein relays messages to the nucleus even in the absence of these chemical signals. Researchers believe that the overactive STAT3 protein instructs cells to continue growing and dividing, and prevents damaged cells from self-destructing (undergoing apoptosis). Excess STAT3 protein may contribute to the growth of cancers by allowing abnormal cells to grow and divide uncontrollably.

Where is the STAT3 gene located?

Cytogenetic Location: 17q21.31

Molecular Location on chromosome 17: base pairs 42,313,323 to 42,388,567

The STAT3 gene is located on the long (q) arm of chromosome 17 at position 21.31.

The STAT3 gene is located on the long (q) arm of chromosome 17 at position 21.31.

More precisely, the STAT3 gene is located from base pair 42,313,323 to base pair 42,388,567 on chromosome 17.

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 STAT3?

You and your healthcare professional may find the following resources about STAT3 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 STAT3 gene or gene products?

  • acute-phase response factor
  • APRF
  • APRF Transcription Factor
  • DNA-binding protein APRF
  • FLJ20882
  • hypothetical protein MGC16063
  • IL6-Response Factor
  • LIF(leukemia inhibitory factor)-Response Factor
  • LIF-Response Factor
  • STAT3_HUMAN

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 STAT3?

acute ; amino acid ; apoptosis ; bacteria ; cancer ; cell ; constitutive ; cytokine ; DNA ; gene ; immune system ; infection ; inflammation ; injury ; kinase ; leukemia ; lymphoma ; nucleus ; pancreas ; prostate ; protein ; regulatory regions ; syndrome ; tissue ; transcription ; transcription factor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Frank DA. STAT3 as a central mediator of neoplastic cellular transformation. Cancer Lett. 2007 Jun 28;251(2):199-210. Epub 2006 Nov 28. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17129668?dopt=Abstract)
  • Gao H, Ward PA. STAT3 and suppressor of cytokine signaling 3: potential targets in lung inflammatory responses. Expert Opin Ther Targets. 2007 Jul;11(7):869-80. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17614756?dopt=Abstract)
  • Gao SP, Bromberg JF. Touched and moved by STAT3. Sci STKE. 2006 Jul 11;2006(343):pe30. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16835434?dopt=Abstract)
  • Hodge DR, Hurt EM, Farrar WL. The role of IL-6 and STAT3 in inflammation and cancer. Eur J Cancer. 2005 Nov;41(16):2502-12. Epub 2005 Sep 30. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16199153?dopt=Abstract)
  • Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, Freeman AF, Demidowich A, Davis J, Turner ML, Anderson VL, Darnell DN, Welch PA, Kuhns DB, Frucht DM, Malech HL, Gallin JI, Kobayashi SD, Whitney AR, Voyich JM, Musser JM, Woellner C, Schäffer AA, Puck JM, Grimbacher B. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med. 2007 Oct 18;357(16):1608-19. Epub 2007 Sep 19. (http://www.ncbi.nlm.nih.gov/pubmed/17881745?dopt=Abstract)
  • Levy DE, Lee CK. What does Stat3 do? J Clin Invest. 2002 May;109(9):1143-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11994402?dopt=Abstract)
  • Levy DE, Loomis CA. STAT3 signaling and the hyper-IgE syndrome. N Engl J Med. 2007 Oct 18;357(16):1655-8. Epub 2007 Sep 19. (http://www.ncbi.nlm.nih.gov/pubmed/17881746?dopt=Abstract)
  • Minegishi Y, Saito M, Tsuchiya S, Tsuge I, Takada H, Hara T, Kawamura N, Ariga T, Pasic S, Stojkovic O, Metin A, Karasuyama H. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature. 2007 Aug 30;448(7157):1058-62. Epub 2007 Aug 5. (http://www.ncbi.nlm.nih.gov/pubmed/17676033?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6774)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2008
Published: December 16, 2014