BRD4 Gene: Function, Mutations, and Disease Associations | Biomedical Resource

BRD4 (Bromodomain Containing 4) is a protein-coding gene located on chromosome 19p13.12. It encodes a chromatin-binding protein that plays a critical role in transcriptional regulation, cell cycle control, and DNA damage response. BRD4 belongs to the BET (bromodomain and extra-terminal) family, characterized by two bromodomains that recognize acetylated lysine residues on histones. Through this interaction, BRD4 recruits transcriptional complexes to promote gene expression. It is involved in various cellular processes including proliferation, differentiation, and apoptosis. Dysregulation of BRD4 has been implicated in multiple cancers and inflammatory diseases, making it a target for therapeutic intervention.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Transcriptional regulation by BRD4

• Cell cycle control

• DNA damage response

• MYC signaling pathway

• NF-kB signaling pathway

• p53 pathway

The BRD4 protein (UniProt O60885) is a 1402-amino acid nuclear protein containing two N-terminal bromodomains (BD1 and BD2) that specifically recognize acetylated lysine residues on histone tails, and a C-terminal extra-terminal (ET) domain that mediates protein-protein interactions. BRD4 also possesses a C-terminal motif that recruits positive transcription elongation factor b (P-TEFb), facilitating RNA polymerase II phosphorylation and transcriptional elongation. Through these interactions, BRD4 regulates expression of genes involved in cell cycle progression, inflammation, and viral replication. It is essential for embryonic development and is overexpressed in various cancers, where it promotes oncogenic transcription programs. BRD4 inhibitors (e.g., JQ1) are being investigated as anticancer agents.