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STAT3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

STAT3 gene

The STAT3 gene provides instructions for making a protein that acts as a transcription factor, regulating essential cellular processes including immunity, cell growth, and bone development.

Normal Function

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 turned on (activated) by certain chemical signals, they move into the cell's nucleus and attach (bind) to particular areas of DNA. The STAT proteins bind to regulatory regions near genes, which allows the proteins to control whether these genes are turned on or off. STAT proteins are called transcription factors on the basis of this action.

Through its regulation of gene activity, the STAT3 protein is involved in many cellular functions. It helps control cell growth and division (proliferation), cell movement (migration), 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 for the maturation of immune system cells, especially T cells and B cells. These cells help control the body's response to foreign invaders such as bacteria and fungi. In addition, the protein is involved in the regulation of inflammation and plays a role in cellular processes that promote allergic reactions. In the skeletal system, the STAT3 protein is involved in the formation of specialized cells that build and break down bone tissue.

Health Conditions Related to Genetic Changes

Autosomal dominant hyper-IgE syndrome

More than 100 germline mutations in the STAT3 gene have been identified in people with autosomal dominant hyper-IgE syndrome (AD-HIES), a disorder of the immune system characterized by high levels of immunoglobulin E (IgE), recurrent skin and lung infections, and abnormalities of the bones, teeth, and blood vessels. Most of these mutations have a dominant-negative effect, where the altered protein interferes with the function of the normal protein produced from the other copy of the gene.

Autoimmune disorders

At least 20 STAT3 gene mutations have been found to cause an autoimmune disorder that affects many body systems. These mutations are classified as "gain-of-function" because they result in a protein that is abnormally active. A continuously active version of this protein relays messages to the nucleus even in the absence of chemical signals, preventing normal control of the immune system and leading to autoimmunity.

Cancers

STAT3 gene mutations are found in approximately one-third of cases of a blood cancer called large granular lymphocytic leukemia (LGL). Unlike the mutations that cause autoimmunity, these are somatic mutations, meaning they are not inherited and are found only in the abnormal lymphocytes. These gain-of-function mutations instruct cells to continue growing and dividing while preventing damaged cells from self-destructing.

Other Names for This Gene

  • 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
  • signal transducer and activator of transcription 3 (acute-phase response factor)
  • STAT3_HUMAN

Frequently Asked Questions

The clinical outcome depends directly on whether the mutation reduces or overactivates protein function. Loss-of-function mutations cause classical autosomal dominant hyper-IgE syndrome, which is characterized by immune deficiency, fungal and bacterial infections, and skeletal anomalies. In contrast, gain-of-function mutations overstimulate the immune system, leading to early-onset systemic autoimmunity, autoimmune cytopenias, enteropathy, type 1 diabetes, autoimmune thyroid disease, and postnatal growth failure.
Clinicians typically order STAT3 genetic testing when an individual exhibits features of autosomal dominant hyper-IgE syndrome (Job syndrome). Key clinical indicators include recurrent "cold" staphylococcal skin abscesses that lack typical warmth and redness, severe eczema starting in infancy, frequent pneumonias leading to lung cysts (pneumatoceles), markedly elevated serum IgE levels, delayed loss of primary baby teeth, and recurring bone fractures from minor trauma.
Management centers on protecting lung architecture and preventing opportunistic infections. Standard regimens typically include daily prophylactic antibiotics, such as trimethoprim-sulfamethoxazole, to suppress Staphylococcus aureus, along with antifungal prophylaxis like itraconazole to prevent Aspergillus and Candida infections. Regular chest imaging is advised to monitor for asymptomatic lung cysts, alongside routine pediatric dental care to surgically extract retained primary teeth that fail to shed naturally.
STAT3 disorders follow an autosomal dominant inheritance pattern, meaning a single altered copy of the gene is sufficient to cause disease. An affected individual has a 50% chance of passing the condition to each child. However, a large percentage of individuals with hyper-IgE syndrome have de novo mutations, meaning the variant occurred spontaneously with no family history, resulting in a very low recurrence risk for the unaffected parents' future pregnancies.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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