TLR7 Gene - Toll Like Receptor 7: Function, Mutations, and Disease Associations

TLR7 (Toll Like Receptor 7) is a member of the Toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immunity. TLR7 recognizes single-stranded RNA from viruses, such as influenza and HIV, and is localized to endosomal membranes. Upon ligand binding, TLR7 recruits MYD88 and triggers NF-κB and IRF7 signaling pathways, leading to production of type I interferons and pro-inflammatory cytokines. TLR7 is primarily expressed in plasmacytoid dendritic cells and B cells. Gain-of-function mutations in TLR7 are associated with severe systemic lupus erythematosus (SLE) and increased susceptibility to viral infections.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Toll-like receptor signaling pathway (KEGG: hsa04620)

• NF-kappa B signaling pathway (KEGG: hsa04064)

• RIG-I-like receptor signaling pathway (KEGG: hsa04622)

TLR7 is a 1049-amino acid protein with an N-terminal leucine-rich repeat (LRR) domain, a transmembrane domain, and a C-terminal Toll/interleukin-1 receptor (TIR) domain. It localizes to endosomal membranes and recognizes single-stranded RNA. Upon activation, TLR7 recruits MYD88 and activates IRF7 and NF-κB, inducing type I interferons and pro-inflammatory cytokines. The protein is critical for antiviral immunity and is implicated in autoimmune diseases when hyperactive.