Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
STAT4

STAT4

Reviewed September 2011

What is the official name of the STAT4 gene?

The official name of this gene is “signal transducer and activator of transcription 4.”

STAT4 is the gene's official symbol. The STAT4 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the STAT4 gene?

The STAT4 gene provides instructions for a protein that acts as a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of certain genes. The STAT4 protein is turned on (activated) by immune system proteins called cytokines, which are part of the inflammatory response to fight infection. When activated, the STAT4 protein increases the activity of genes that help immune cells called T-cells mature into specialized T-cells. These specialized T-cells, called Th1 cells, produce specific cytokines and stimulate other immune cells to get rid of foreign invaders (pathogens) in the cell.

Does the STAT4 gene share characteristics with other genes?

The STAT4 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? in the Handbook.

How are changes in the STAT4 gene related to health conditions?

autoimmune disorders - increased risk from variations of the STAT4 gene

Studies have associated a normal variation in the STAT4 gene with an increased risk of several autoimmune disorders. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. These disorders include systemic lupus erythematosus, rheumatoid arthritis, and Sjögren syndrome.

The variant associated with increased risk of autoimmune disorders changes a single DNA building block (nucleotide) in the STAT4 gene. It is unknown how the gene variation contributes to increased risk of these conditions. Researchers believe that a combination of genetic and environmental factors may play a role in development of autoimmunity.

systemic scleroderma - increased risk from variations of the STAT4 gene

A normal variation in the STAT4 gene has been associated with an increased risk of developing systemic scleroderma, which is an autoimmune disorder characterized by the buildup of scar tissue (fibrosis) in the skin and internal organs. Although the STAT4 gene is known to stimulate the immune system in response to pathogens, it is unknown how the gene variation contributes to the increased risk of systemic scleroderma. Researchers believe that a combination of genetic and environmental factors may play a role in development of the condition.

Genetics Home Reference provides information about these additional conditions, which are also associated with changes in the STAT4 gene:

Where is the STAT4 gene located?

Cytogenetic Location: 2q32.2-q32.3

Molecular Location on chromosome 2: base pairs 191,029,575 to 191,172,670

The STAT4 gene is located on the long (q) arm of chromosome 2 between positions 32.2 and 32.3.

The STAT4 gene is located on the long (q) arm of chromosome 2 between positions 32.2 and 32.3.

More precisely, the STAT4 gene is located from base pair 191,029,575 to base pair 191,172,670 on chromosome 2.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about STAT4?

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the STAT4 gene or gene products?

  • SLEB11
  • STAT4_HUMAN

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding STAT4?

arthritis ; autoimmune ; autoimmunity ; cell ; DNA ; fibrosis ; gene ; idiopathic ; immune system ; infection ; juvenile ; lupus ; nucleotide ; protein ; syndrome ; systemic lupus ; systemic lupus erythematosus ; T-cells ; tissue ; transcription ; transcription factor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (7 links)

 

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? in the Handbook.

 
Reviewed: September 2011
Published: October 20, 2014