CEBPB (P17676) variants and mutations

CEBPB (also known as P17676) is a human protein-coding gene encoding a CCAAT/enhancer-binding protein beta protein. It coordinates transcriptional programs involved in inflammation, myeloid differentiation, adipogenesis, metabolism, and cellular stress responses. Dysregulated expression or activity contributes to inflammatory disease and several cancers, particularly through altered differentiation and cytokine signaling. This analysis covers 932 CEBPB variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes neurodegenerative disease, autoimmune disorder of central nervous system, and bile duct disorder. Example CEBPB variants include Q2*, Q2K, and Q2R.

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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable CEBPB variants

Examples include Q2*, Q2K, Q2R, Q2Q, Q2H, R3C, R3H, R3S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.