IRF7 Gene – Interferon Regulatory Factor 7: Function, Mutations, and Disease

IRF7 (Interferon Regulatory Factor 7) encodes a transcription factor that plays a central role in the induction of type I interferons (IFN-α/β) in response to viral infection. It is activated by phosphorylation via TBK1 and IKKε following recognition of pathogen-associated molecular patterns by Toll-like receptors (TLRs) and RIG-I-like receptors. IRF7 is constitutively expressed in plasmacytoid dendritic cells and is inducible in other cell types. It regulates the expression of multiple interferon-stimulated genes and is critical for antiviral immunity. Dysregulation of IRF7 is associated with severe viral infections, autoimmune diseases, and certain cancers.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• R-HSA-168928 – RIG-I/MDA5 mediated induction of IFN-α/β pathways

• R-HSA-168164 – Toll Like Receptor 3 (TLR3) Cascade

• R-HSA-168176 – Toll Like Receptor 7/8 (TLR7/8) Cascade

• R-HSA-913531 – Interferon Signaling

• R-HSA-1280215 – Cytokine Signaling in Immune system

• WP3932 – Type I interferon induction and signaling

IRF7 is a 503-amino acid transcription factor containing an N-terminal DNA-binding domain (DBD) with a helix-turn-helix motif, a central constitutive activation domain (CAD), and a C-terminal autoinhibitory domain. Upon viral infection, IRF7 is phosphorylated by TBK1/IKKε, leading to homodimerization or heterodimerization with IRF3, nuclear translocation, and binding to interferon-stimulated response elements (ISREs) to drive transcription of type I IFN genes. IRF7 is considered the master regulator of IFN-α production, especially in plasmacytoid dendritic cells. Its activity is tightly regulated by ubiquitination and sumoylation.