BRD8: A Key Component of the NuA4 Histone Acetyltransferase Complex
Bromodomain-containing protein 8 gene - structure, function, and disease associations
Gene Information Card
| Symbol | BRD8 |
|---|---|
| Full Name | bromodomain containing 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 10902 ncbi.nlm.nih.gov/gene/10902 |
| Ensembl ID | ENSG00000112983 |
| UniProt ID | Q9H0E9 |
| OMIM ID | 602848 |
| HGNC ID | 1102 |
| Aliases | SMAP, p120, FLJ20241, MGC138499 |
Description
BRD8 (bromodomain containing 8) encodes a protein that contains a bromodomain, a motif that recognizes acetylated lysine residues on histones. BRD8 is a subunit of the NuA4 histone acetyltransferase complex, which plays a critical role in chromatin remodeling, transcriptional activation, and DNA repair. The protein is involved in regulating gene expression by facilitating the acetylation of histone H4 and H2A. BRD8 has been implicated in various cancers and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | BRD8 overexpression enhances androgen receptor signaling via NuA4 complex recruitment | PMID: 23327923 |
| Breast cancer | BRD8 amplification and overexpression correlate with poor prognosis and promote cell proliferation | PMID: 25605248 |
| Colorectal cancer | BRD8 mutations and altered expression contribute to tumorigenesis through chromatin dysregulation | COSMIC ID: 10902 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.7 | Low |
| Liver | 5.2 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Cervical cancer cell line |
| A549 | 7.4 | Lung cancer cell line |
| MCF7 | 11.2 | Breast cancer cell line |
| HEK293 | 6.5 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | 0.02% (gnomAD) | Unknown functional effect |
| c.1456G>A (p.Glu486Lys) | Missense | 0.01% (gnomAD) | Unknown functional effect |
| c.1789_1790insA (p.Thr597Asnfs*2) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of BRD8 function, potentially impairing NuA4 complex activity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in BRD8.
Dominant Negative (DN)
No evidence for dominant-negative effects in BRD8.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NuA4 histone acetyltransferase complex (Reactome: R-HSA-3214847)
• Chromatin modifying enzymes (KEGG: hsa05203)
• Transcriptional regulation by the AP-2 family (Reactome: R-HSA-8866907)
Protein Summary
BRD8 is a 1105-amino acid protein containing a single N-terminal bromodomain that binds acetylated histones. It is a stable component of the NuA4/TIP60 histone acetyltransferase complex, which acetylates histones H4 and H2A to promote open chromatin and transcriptional activation. BRD8 also interacts with nuclear receptors and transcription factors, modulating their activity. The protein is ubiquitously expressed with highest levels in testis and certain cancer cell lines.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
