IKBKB (O14920) variants and mutations

IKBKB (also known as O14920) is a human protein-coding gene encoding an inhibitor of nuclear factor kappa-B kinase subunit beta protein. It phosphorylates inhibitory I-kappaB proteins after immune-receptor activation, allowing NF-kappaB transcription factors to enter the nucleus and drive inflammatory and survival genes. Biallelic loss-of-function variants can cause severe combined immunodeficiency. This analysis covers 909 IKBKB variants and mutations. Of these, 71% have computational variant effect predictions. Disease context includes severe combined immunodeficiency due to IKK2 deficiency, immunodeficiency 15a, and severe combined immunodeficiency. Example IKBKB variants include M1?, S2N, and W3*.

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, ClinGen, MaveDB, LitVar.

Notable IKBKB variants

Examples include M1?, S2N, W3*, W3L, S4*, S4T, S4L, S4S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.