Reviewed September 2011
What is the official name of the IRF5 gene?
The official name of this gene is “interferon regulatory factor 5.”
IRF5 is the gene's official symbol. The IRF5 gene is also known by other names, listed below.
What is the normal function of the IRF5 gene?
The protein produced from the IRF5 gene, called interferon regulatory factor 5 (IRF5), acts as a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of certain genes. When a virus is recognized in the cell, the IRF5 gene is turned on (activated), which leads to the production of IRF5 protein. The protein binds to specific regions of DNA that regulate the activity of genes that produce interferons and other cytokines. Cytokines are proteins that help fight infection by promoting inflammation and regulating the activity of immune system cells. In particular, interferons control the activity of genes that help block the replication of viruses, and they stimulate the activity of certain immune system cells known as natural killer cells.
How are changes in the IRF5 gene related to health conditions?
- autoimmune disorders - increased risk from variations of the IRF5 gene
Studies have associated normal variations in the IRF5 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, Sjögren syndrome, and rheumatoid arthritis.
There is some evidence that certain variations of the IRF5 gene are associated with increased activity of the gene and elevated cytokines. However, it is unknown what role, if any, these effects play in the increased risk of autoimmune disorders. Researchers believe that a combination of genetic and environmental factors may contribute to the development of these conditions.
- systemic scleroderma - increased risk from variations of the IRF5 gene
Several normal variations in the IRF5 gene have 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 IRF5 gene is known to stimulate the immune system in response to viruses, it is unknown how the gene variations contribute 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 IRF5 gene located?
Cytogenetic Location: 7q32
Molecular Location on chromosome 7: base pairs 128,937,737 to 128,950,042
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/3663))
The IRF5 gene is located on the long (q) arm of chromosome 7 at position 32.
More precisely, the IRF5 gene is located from base pair 128,937,737 to base pair 128,950,042 on chromosome 7.
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 IRF5?
You and your healthcare professional may find the following resources about IRF5 helpful.
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%28IRF5%5BTIAB%5D%29%20OR%20%28interferon%20regulatory%20factor%205%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%20720%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog
- INTERFERON REGULATORY FACTOR 5 (http://omim.org/entry/607218)
- RHEUMATOID ARTHRITIS (http://omim.org/entry/180300)
- SJOGREN SYNDROME (http://omim.org/entry/270150)
- SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10 (http://omim.org/entry/612251)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_IRF5.html)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=6120)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3663)
What other names do people use for the IRF5 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 IRF5?
immune system ;
killer cells ;
natural killer cells ;
transcription factor ;
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)
- Barnes BJ, Moore PA, Pitha PM. Virus-specific activation of a novel interferon regulatory factor, IRF-5, results in the induction of distinct interferon alpha genes. J Biol Chem. 2001 Jun 29;276(26):23382-90. Epub 2001 Apr 12. (http://www.ncbi.nlm.nih.gov/pubmed/11303025?dopt=Abstract)
- Dieudé P, Guedj M, Wipff J, Avouac J, Fajardy I, Diot E, Granel B, Sibilia J, Cabane J, Mouthon L, Cracowski JL, Carpentier PH, Hachulla E, Meyer O, Kahan A, Boileau C, Allanore Y. Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspective for pulmonary fibrosis. Arthritis Rheum. 2009 Jan;60(1):225-33. doi: 10.1002/art.24183. (http://www.ncbi.nlm.nih.gov/pubmed/19116937?dopt=Abstract)
- Graham RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, Bauer JW, Ortmann WA, Koeuth T, González Escribano MF; Argentine and Spanish Collaborative Groups, Pons-Estel B, Petri M, Daly M, Gregersen PK, Martín J, Altshuler D, Behrens TW, Alarcón-Riquelme ME. A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nat Genet. 2006 May;38(5):550-5. Epub 2006 Apr 16. (http://www.ncbi.nlm.nih.gov/pubmed/16642019?dopt=Abstract)
- OMIM: INTERFERON REGULATORY FACTOR 5 (http://omim.org/entry/607218)
- Ito I, Kawaguchi Y, Kawasaki A, Hasegawa M, Ohashi J, Hikami K, Kawamoto M, Fujimoto M, Takehara K, Sato S, Hara M, Tsuchiya N. Association of a functional polymorphism in the IRF5 region with systemic sclerosis in a Japanese population. Arthritis Rheum. 2009 Jun;60(6):1845-50. doi: 10.1002/art.24600. (http://www.ncbi.nlm.nih.gov/pubmed/19479858?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3663)
- 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)
- Rullo OJ, Woo JM, Wu H, Hoftman AD, Maranian P, Brahn BA, McCurdy D, Cantor RM, Tsao BP. Association of IRF5 polymorphisms with activation of the interferon alpha pathway. Ann Rheum Dis. 2010 Mar;69(3):611-7. doi: 10.1136/ard.2009.118315. Epub 2009 Oct 23. (http://www.ncbi.nlm.nih.gov/pubmed/19854706?dopt=Abstract)
- Takaoka A, Yanai H, Kondo S, Duncan G, Negishi H, Mizutani T, Kano S, Honda K, Ohba Y, Mak TW, Taniguchi T. Integral role of IRF-5 in the gene induction programme activated by Toll-like receptors. Nature. 2005 Mar 10;434(7030):243-9. Epub 2005 Jan 23. (http://www.ncbi.nlm.nih.gov/pubmed/15665823?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.