BRD2: A Bromodomain-Containing Transcriptional Regulator
Key player in chromatin remodeling, cell cycle control, and susceptibility to juvenile myoclonic epilepsy and various cancers.
Gene Information Card
| Symbol | BRD2 |
|---|---|
| Full Name | Bromodomain containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 6046 ncbi.nlm.nih.gov/gene/6046 |
| Ensembl ID | ENSG00000104219 |
| UniProt ID | P25440 |
| OMIM ID | 601540 |
| HGNC ID | 1103 |
| Aliases | FSH, FSRG1, D6S113E, RING3, O27.1.1, KIAA9001 |
Description
BRD2 encodes a member of the bromodomain and extra-terminal domain (BET) family of proteins. It contains two bromodomains that recognize acetylated lysine residues on histones, facilitating chromatin binding and recruitment of transcriptional complexes. BRD2 plays a critical role in cell cycle progression, transcriptional elongation, and chromatin remodeling. It is ubiquitously expressed and has been implicated in neurodevelopmental disorders, particularly juvenile myoclonic epilepsy, and in oncogenesis through its regulation of MYC and other proliferative genes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Juvenile Myoclonic Epilepsy (JME) | Altered BRD2 expression or regulatory variants in the promoter region may disrupt neuronal gene expression networks, increasing seizure susceptibility. | OMIM 601540; ClinVar; PMID 10767306 |
| Various Cancers (e.g., breast, lung, lymphoma) | BRD2 overexpression or aberrant recruitment to oncogene promoters (e.g., MYC) drives uncontrolled proliferation. BET inhibitors (e.g., JQ1) target BRD2 in cancer therapy. | COSMIC; PMID 21909073; PMID 24895458 |
| Neurodevelopmental Disorders | Rare variants in BRD2 have been associated with intellectual disability and autism spectrum disorder, likely through altered chromatin regulation during brain development. | ClinVar; PMID 28135719 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Brain (cerebellum) | 22.5 | Medium |
| Lymph node | 18.7 | Medium |
| Bone marrow | 15.3 | Medium |
| Liver | 10.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 32.4 | High expression; used in BET inhibitor studies |
| HeLa (cervical) | 28.1 | High expression; role in cell cycle |
| HepG2 (liver) | 12.3 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 18.9 | Relevant for epilepsy research |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1060C>T (p.Arg354Trp) | Missense | <0.01% | Reported in ClinVar as likely pathogenic for neurodevelopmental disorder |
| c.1234G>A (p.Glu412Lys) | Missense | <0.01% | Uncertain significance; observed in epilepsy cohort |
| Promoter region variants (e.g., rs3918149) | Regulatory | 5-10% in JME populations | Associated with altered BRD2 expression and increased JME risk |
Mutation functional classification
Loss of Function (LOF)
Rare missense or truncating variants that reduce BRD2's ability to bind acetylated histones or recruit transcription factors, leading to dysregulated gene expression in neurons.
Gain of Function (GOF)
Overexpression or amplification of BRD2 (e.g., in cancer) enhances recruitment to oncogene promoters, driving proliferation.
Dominant Negative (DN)
Not well documented; however, some missense mutations may interfere with dimerization or complex formation, potentially exerting dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 ~ protein binding | • GO:0042393 ~ histone binding |
| • GO:0003682 ~ chromatin binding | • GO:0006357 ~ regulation of transcription by RNA polymerase II |
| • GO:0006355 ~ regulation of DNA-templated transcription | • GO:0007049 ~ cell cycle |
| • GO:0000122 ~ negative regulation of transcription by RNA polymerase II | • GO:0005634 ~ nucleus |
Pathways
• BET protein pathway (Reactome: R-HSA-5250941)
• Transcriptional regulation by BRD2 (WikiPathways: WP3984)
• MYC activation pathway (KEGG: hsa05202)
• Cell cycle (KEGG: hsa04110)
Protein Summary
BRD2 is a 801-amino-acid nuclear protein belonging to the BET family. It contains two N-terminal bromodomains (BD1 and BD2) that specifically recognize acetylated lysine residues on histone tails (e.g., H4K5ac, H4K12ac), and an extra-terminal (ET) domain that mediates protein-protein interactions. BRD2 functions as a scaffold for transcriptional complexes, facilitating RNA polymerase II elongation and cell cycle progression. It is a target of BET inhibitors (e.g., JQ1, I-BET762) in cancer therapy. The protein is ubiquitously expressed with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LMBRD2 Knockout HEK293 Cell Line | EDJ-KQ10856 | Human | 92255 | Details Get a Quote |
| LMBRD2 Knockout A-549 Cell Line | EDJ-KQ38517 | Human | 92255 | Details Get a Quote |
| LMBRD2 Knockout HCT 116 Cell Line | EDJ-KQ38518 | Human | 92255 | Details Get a Quote |
| LMBRD2 Knockout HeLa Cell Line | EDJ-KQ38519 | Human | 92255 | Details Get a Quote |
| BRD2 Knockout HAP1 Cell Line | EDC08017 | Human | 6046 | Details Get a Quote |
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