CD40 Gene: Function, Mutations, and Associated Diseases | Biomedical SEO

The CD40 gene encodes a member of the tumor necrosis factor receptor superfamily. This transmembrane protein is expressed on various immune cells, including B cells, dendritic cells, and macrophages, as well as on non-immune cells like endothelial and epithelial cells. CD40 plays a critical role in mediating immune responses, including B cell activation, immunoglobulin class switching, and T cell-dependent humoral immunity. It also participates in inflammatory responses and has been implicated in various cancers and autoimmune diseases.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• CD40/CD40L signaling pathway

• NF-kappa B signaling pathway

• T cell receptor signaling pathway

• B cell receptor signaling pathway

The CD40 protein is a type I transmembrane glycoprotein of 277 amino acids. It consists of an extracellular domain with four cysteine-rich repeats, a single transmembrane domain, and a cytoplasmic tail that lacks intrinsic kinase activity but recruits TRAF proteins to activate downstream signaling pathways. CD40 is expressed on antigen-presenting cells and interacts with its ligand CD40L (CD154) on T cells, leading to activation of NF-κB, MAPK, and PI3K pathways. This results in upregulation of costimulatory molecules, cytokine production, and immunoglobulin class switching. CD40 also plays a role in cell survival and apoptosis depending on cellular context.