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STAT4 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

STAT4 gene

The STAT4 gene provides instructions for a protein that regulates immune system activity and is associated with several autoimmune conditions.

Overview

The STAT4 gene (signal transducer and activator of transcription 4) provides instructions for a protein that acts as a transcription factor. This protein binds to specific regions of DNA to control the activity of certain genes. The STAT4 protein is activated by immune system proteins called cytokines, which are part of the inflammatory response to infection. Once activated, STAT4 increases the activity of genes that help T-cells mature into specialized Th1 cells, which produce cytokines to stimulate other immune cells to eliminate pathogens.

Health Conditions Related to Genetic Changes

Systemic scleroderma

A normal variation in the STAT4 gene is associated with an increased risk of systemic scleroderma, an autoimmune disorder characterized by the buildup of scar tissue (fibrosis) in the skin and internal organs. While the gene stimulates the immune system to fight pathogens, the exact mechanism by which this variation increases risk remains unknown. Researchers believe a combination of genetic and environmental factors likely contributes to the condition.

Juvenile idiopathic arthritis

The STAT4 gene has been linked to the development of juvenile idiopathic arthritis.

Systemic lupus erythematosus

Studies have associated a normal variation in the STAT4 gene with an increased risk of systemic lupus erythematosus. This variant involves a single nucleotide change in the gene. While the specific mechanism is unknown, researchers believe a combination of genetic and environmental factors is involved in the development of this autoimmunity.

Other Names

  • SLEB11
  • STAT4_HUMAN

Frequently Asked Questions

While you cannot change your DNA, certain modifiable factors can lower overall autoimmune risk. Avoid smoking, maintain a balanced diet rich in omega‑3 fatty acids, manage stress, protect skin from excessive UV exposure, and stay up to date with vaccinations to reduce infection‑triggered flares. These measures are beneficial for anyone at risk of autoimmune disease, regardless of STAT4 status.
Routine STAT4 testing is not currently recommended for clinical decision‑making in JIA. While STAT4 variants are associated with a modestly increased risk of JIA, the presence or absence of the variant does not change standard treatment or surveillance strategies. Genetic counseling can help you understand the limited predictive value and decide whether testing aligns with your personal goals.
Carrying a STAT4 risk variant increases your relative risk of developing systemic lupus erythematosus (SLE) by about 1.3‑ to 1.5‑fold, but most people with the allele never develop the disease. Lupus results from a combination of multiple genetic factors, environmental triggers (such as infections, UV exposure, smoking), and hormonal influences. A single STAT4 variant is only one piece of the puzzle and does not guarantee disease onset.
t present, STAT4 genotype does not alter the standard of care for systemic scleroderma. Treatment decisions are based on organ involvement, disease severity, and response to therapy rather than genetic status. However, knowing you carry a risk allele may be useful for research enrollment or future therapies that target specific immune pathways, should they become available.
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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