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.
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) 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.
Where is the STAT4 gene located?
Cytogenetic Location: 2q32.2-q32.3
Molecular Location on chromosome 2: base pairs 191,029,576 to 191,246,172
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/6775))
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 191,029,576 to base pair 191,246,172 on chromosome 2.
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 STAT4?
You and your healthcare professional may find the following resources about STAT4 helpful.
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for STAT4 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6775%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28STAT4%5BTIAB%5D%29%20OR%20%28signal%20transducer%20and%20activator%20of%20transcription%204%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20360%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog
- RHEUMATOID ARTHRITIS (http://omim.org/entry/180300)
- RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE (http://omim.org/entry/604302)
- SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4 (http://omim.org/entry/600558)
- SJOGREN SYNDROME (http://omim.org/entry/270150)
- SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11 (http://omim.org/entry/612253)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_STAT4.html)
- HGNC Gene Family: SH2 domain containing (http://www.genenames.org/cgi-bin/genefamilies/set/741)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=11365)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6775)
What other names do people use for the STAT4 gene or gene products?
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 STAT4?
immune system ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Allanore Y, Dieude P, Boileau C. Updating the genetics of systemic sclerosis. Curr Opin Rheumatol. 2010 Nov;22(6):665-70. doi: 10.1097/BOR.0b013e32833d110a. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20616736?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6775)
- Radstake TR, Gorlova O, Rueda B, Martin JE, Alizadeh BZ, Palomino-Morales R, Coenen MJ, Vonk MC, Voskuyl AE, Schuerwegh AJ, Broen JC, van Riel PL, van 't Slot R, Italiaander A, Ophoff RA, Riemekasten G, Hunzelmann N, Simeon CP, Ortego-Centeno N, González-Gay MA, González-Escribano MF; Spanish Scleroderma Group, Airo P, van Laar J, Herrick A, Worthington J, Hesselstrand R, Smith V, de Keyser F, Houssiau F, Chee MM, Madhok R, Shiels P, Westhovens R, Kreuter A, Kiener H, de Baere E, Witte T, Padykov L, Klareskog L, Beretta L, Scorza R, Lie BA, Hoffmann-Vold AM, Carreira P, Varga J, Hinchcliff M, Gregersen PK, Lee AT, Ying J, Han Y, Weng SF, Amos CI, Wigley FM, Hummers L, Nelson JL, Agarwal SK, Assassi S, Gourh P, Tan FK, Koeleman BP, Arnett FC, Martin J, Mayes MD. Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. Nat Genet. 2010 May;42(5):426-9. doi: 10.1038/ng.565. Epub 2010 Apr 11. (http://www.ncbi.nlm.nih.gov/pubmed/20383147?dopt=Abstract)
- Rueda B, Broen J, Simeon C, Hesselstrand R, Diaz B, Suárez H, Ortego-Centeno N, Riemekasten G, Fonollosa V, Vonk MC, van den Hoogen FH, Sanchez-Román J, Aguirre-Zamorano MA, García-Portales R, Pros A, Camps MT, Gonzalez-Gay MA, Coenen MJ, Airo P, Beretta L, Scorza R, van Laar J, Gonzalez-Escribano MF, Nelson JL, Radstake TR, Martin J. The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype. Hum Mol Genet. 2009 Jun 1;18(11):2071-7. doi: 10.1093/hmg/ddp119. Epub 2009 Mar 13. (http://www.ncbi.nlm.nih.gov/pubmed/19286670?dopt=Abstract)
- OMIM: SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4 (http://omim.org/entry/600558)
- Thieu VT, Yu Q, Chang HC, Yeh N, Nguyen ET, Sehra S, Kaplan MH. Signal transducer and activator of transcription 4 is required for the transcription factor T-bet to promote T helper 1 cell-fate determination. Immunity. 2008 Nov 14;29(5):679-90. doi: 10.1016/j.immuni.2008.08.017. (http://www.ncbi.nlm.nih.gov/pubmed/18993086?dopt=Abstract)
- Watford WT, Hissong BD, Bream JH, Kanno Y, Muul L, O'Shea JJ. Signaling by IL-12 and IL-23 and the immunoregulatory roles of STAT4. Immunol Rev. 2004 Dec;202:139-56. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15546391?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.