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STING1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

STING1 gene

The STING1 gene provides instructions for making a protein involved in immune system function, specifically in the production of inflammatory cytokines.

Normal Function

The STING1 gene provides instructions for making a protein that is involved in immune system function. STING helps produce beta-interferon, a member of a class of proteins called cytokines that promote inflammation. Inflammation normally occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and help with tissue repair.

Health Conditions Related to Genetic Changes

STING-associated vasculopathy with onset in infancy

At least three STING1 gene mutations have been identified in individuals with STING-associated vasculopathy with onset in infancy (SAVI), a potentially life-threatening disorder that damages the skin, lungs, blood vessels, and other tissues. The mutations that cause SAVI are described as "gain-of-function" mutations because they enhance the activity of the STING protein, leading to overproduction of beta-interferon. Abnormally high beta-interferon levels cause excessive inflammation, resulting in damage to the body's own cells and tissues and leading to the signs and symptoms of SAVI. Disorders such as SAVI that result from abnormally increased inflammation are known as autoinflammatory diseases.

Other Names for This Gene

  • endoplasmic reticulum IFN stimulator
  • endoplasmic reticulum interferon stimulator
  • ERIS
  • FLJ38577
  • hMITA
  • hSTING
  • mediator of IRF3 activation
  • MITA
  • mitochondrial mediator of IRF3 activation
  • MPYS
  • N-terminal methionine-proline-tyrosine-serine plasma membrane tetraspanner
  • NET23
  • SAVI
  • stimulator of interferon genes protein
  • STING
  • TMEM173
  • transmembrane protein 173

Genomic Location

The STING1 gene is found on chromosome 5.

Frequently Asked Questions

Gain-of-function mutations, which cause SAVI, enhance the activity of the STING protein, leading to the overproduction of beta-interferon and a state of chronic, uncontrolled inflammation that damages the body's own tissues. This results in an autoinflammatory disease. In contrast, loss-of-function mutations would theoretically reduce STING activity, potentially impairing the immune system's ability to detect viral DNA and fight infections. However, clinically diagnosed genetic disorders associated with STING1 are currently characterized by the gain-of-function mechanism that drives excessive inflammation rather than immune deficiency.
Treatment for SAVI focuses on managing symptoms and reducing inflammation, as there is no cure for the underlying genetic mutation. JAK inhibitors, such as ruxolitinib, have shown promise in clinical studies and are increasingly used to block the downstream effects of the overactive interferon signaling pathway. Other treatments may include corticosteroids for acute flares, immunosuppressants, and supportive care for lung function. Management is highly individualized and often requires a multidisciplinary team including dermatologists, pulmonologists, and rheumatologists.
Early signs of SAVI typically appear in infancy and include persistent, widespread skin lesions that resemble eczema or psoriasis but do not respond to standard treatments. Other early indicators include chronic lung inflammation (interstitial lung disease), which may cause breathing difficulties, and vascular issues such as livedo reticularis (a net-like purplish discoloration of the skin). Because the condition involves excessive inflammation, infants may also experience failure to thrive or recurrent fevers. Early recognition of these specific skin and lung symptoms is critical for prompt diagnosis.
While STING1 gain-of-function mutations are the primary cause of SAVI, genetic testing for this gene is generally not used as a first-line diagnostic tool for common autoimmune diseases like lupus or rheumatoid arthritis. However, if a patient presents with a unique combination of severe skin, lung, and vascular inflammation that begins in infancy and does not respond to standard therapies, a clinician may consider STING1 sequencing to rule out SAVI. It is a specialized test reserved for specific clinical phenotypes rather than broad autoimmune screening.
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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