IRF9 Gene

Last updated on: 27.11.2023

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DefinitionThis section has been translated automatically.

The IRF9 gene (IRF9 stands for"Interferon Regulatory Factor 9") is a protein-coding gene located on chromosome 14q12. The IRF9 gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse functions, including virus-mediated activation of interferon and modulation of cell growth, differentiation, apoptosis and immune system activities. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats.

Mutations in this gene lead to the clinical picture

  • Immunodeficiency 65 (mutation in the IRF9 gene)

General informationThis section has been translated automatically.

IRF9 encodes a transcription factor that plays an essential role in antiviral immunity. This transcription factor mediates signal transduction by type I IFNs (IFN-alpha|IFN-beta). Upon binding of type I interferons to cell surface receptors, JAK kinases (TYK2 and JAK1) are activated, leading to tyrosine phosphorylation of STAT1 and STAT2.

IRF9 combines with the phosphorylated STAT1/STAT2 dimer to form a protein complex called transcription factor ISGF3 , which can enter the nucleus. ISGF3 binds to the IFN-stimulated response element(ISRE) to activate the transcription of interferon-stimulated genes that place the cell in an antiviral state. If this activation pathway is disturbed, the cell becomes susceptible to infection, especially against viral pathogens.

LiteratureThis section has been translated automatically.

  1. Akira S et al (2006) Pathogen recognition and innate immunity. Cell 124: 783-801
  2. Bravo Garcia-Morato et al (2019) Impaired control of multiple viral infections in a family with complete IRF9 deficiency. J Allergy Clin Immun 144: 309-312.
  3. Hernandez N et al (2018) Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency. J Exp Med 215: 2567-2585.
  4. Manry J et al (2011) Evolutionary genetic dissection of human interferons. J Exp Med 208:2747-2759.
  5. Michalska A et al (2018) A Positive Feedback Amplifier Circuit That Regulates Interferon (IFN)-Stimulated Gene Expression and Controls Type I and Type II IFN Responses. Front Immunol 9:1135.
  6. Sheikh SZ et al (2011) Characterization of an interferon-stimulated response element (ISRE) in the Il23a promoter. J Biol Chem 286:1174-1180.

Last updated on: 27.11.2023