IL12B (Interleukin-12 subunit beta) variants and mutations

IL12B (also known as Interleukin-12 subunit beta) is a human protein-coding gene encoding an interleukin-12 subunit beta protein. It provides the p40 subunit shared by IL-12 and IL-23, linking innate immune activation to Th1 and Th17 responses. Biallelic loss-of-function variants impair IFN-gamma-mediated defense against mycobacteria and Salmonella, while therapeutic blockade is effective in several inflammatory diseases. This analysis covers 613 IL12B variants and mutations. Of these, 94% have computational variant effect predictions. Disease context includes psoriasis, Crohn disease, and psoriasis vulgaris. Example IL12B variants include Q5H, V7A, and V7D.

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 IL12B variants

Examples include Q5H, V7A, V7D, V7G, I8M, I8T, I8V, W10*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.