CD40 (P25942) variants and mutations

CD40 (also known as P25942) is a human protein-coding gene encoding a tumor necrosis factor receptor superfamily member 5 protein. Its engagement on B cells and antigen-presenting cells promotes antibody class switching, germinal-center responses, and broader adaptive immune activation. Loss-of-function variants can cause hyper-IgM immunodeficiency, while excessive signaling contributes to autoimmunity and inflammation. This analysis covers 429 CD40 variants and mutations. Of these, 93% have computational variant effect predictions. Disease context includes hyper-IgM syndrome type 3, rheumatoid arthritis, and Graves disease. Example CD40 variants include M1?, R3C, and R3G.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable CD40 variants

Examples include M1?, R3C, R3G, R3H, R3L, R3P, R3S, R3R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.