BRD2 (Bromodomain-containing protein 2) variants and mutations

BRD2 (also known as Bromodomain-containing protein 2) is a human protein-coding gene encoding a bromodomain-containing protein 2 protein. It recognizes acetylated chromatin and recruits transcriptional machinery that helps regulate cell-cycle and lineage-specific gene expression. Altered BRD2 dosage or activity has been implicated in cancer, inflammation, and neurological disease, and it is inhibited by BET-family bromodomain drugs. This analysis covers 1,692 BRD2 variants and mutations. Of these, 63% have computational variant effect predictions. Disease context includes neurodegenerative disease, neoplasm, and Alzheimer disease. Example BRD2 variants include M1V, p.Met5 Pro6delinsThr, and M1L.

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 BRD2 variants

Examples include M1V, p.Met5 Pro6delinsThr, M1L, M1T, M1I, L2R, L2I, L2F. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.