BRD7 Gene - Bromodomain Containing 7
A key regulator in chromatin remodeling and tumor suppression
Gene Information Card
| Symbol | BRD7 |
|---|---|
| Full Name | Bromodomain Containing 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q12.1 |
| NCBI Gene ID | 29117 ncbi.nlm.nih.gov/gene/29117 |
| Ensembl ID | ENSG00000166164 |
| UniProt ID | Q9NPI1 |
| OMIM ID | 612541 |
| HGNC ID | 14310 |
| Aliases | BP75, CELTIX1, NAG4 |
Description
BRD7 (Bromodomain Containing 7) encodes a protein that contains a bromodomain, a structural motif characteristic of proteins involved in chromatin remodeling and transcriptional regulation. BRD7 acts as a tumor suppressor by modulating chromatin structure and gene expression, particularly in pathways related to cell cycle control, apoptosis, and DNA damage response. It is frequently downregulated or mutated in various cancers, including breast, ovarian, and nasopharyngeal carcinoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of BRD7 expression leads to increased cell proliferation and invasion via dysregulation of chromatin remodeling and estrogen receptor signaling. | PMID: 23542344; COSMIC |
| Nasopharyngeal carcinoma | BRD7 acts as a tumor suppressor; reduced expression correlates with poor prognosis and enhanced tumor growth. | PMID: 18413744; NCBI Gene |
| Ovarian cancer | BRD7 mutations and decreased expression contribute to oncogenesis through impaired DNA repair and cell cycle regulation. | PMID: 25691885; COSMIC |
| Hepatocellular carcinoma | BRD7 downregulation promotes metastasis and epithelial-mesenchymal transition (EMT). | PMID: 29057924 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Breast | 6.1 | Low |
| Ovary | 5.8 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 7.2 | Moderate expression |
| HeLa (cervical cancer) | 6.8 | Moderate expression |
| HepG2 (liver cancer) | 5.1 | Low expression |
| A549 (lung cancer) | 4.9 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338*) | Nonsense | <1% | Loss of function; truncated protein |
| c.1456G>A (p.Glu486Lys) | Missense | <1% | Unknown functional impact |
| c.789_790insA | Frameshift | <1% | Loss of function; predicted protein truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg338*, c.789_790insA) result in truncated or absent BRD7 protein, impairing its tumor suppressor activity.
Gain of Function (GOF)
No gain-of-function mutations reported in BRD7.
Dominant Negative (DN)
No dominant-negative mutations documented for BRD7.
View complete mutation data:
Gene Ontology (GO)
| • chromatin binding | • protein binding |
| • transcription coactivator activity | • nucleus |
| • chromatin remodeling | • negative regulation of cell proliferation |
| • DNA repair |
Pathways
• Chromatin remodeling
• p53 signaling pathway
• Cell cycle - G1/S transition
• DNA damage response
Protein Summary
BRD7 is a 651-amino acid protein containing a bromodomain that recognizes acetylated lysine residues on histones, facilitating chromatin remodeling and transcriptional regulation. It interacts with components of the SWI/SNF complex and p53, playing a critical role in tumor suppression by controlling cell cycle progression, apoptosis, and DNA repair. BRD7 is widely expressed, with highest levels in testis, and is frequently lost or mutated in human cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BRD7 Knockout HEK293 Cell Line | EDJ-KQ51237 | Human | 29117 | Details Get a Quote |
| BRD7 Knockout HeLa Cell Line | EDJ-KQ56101 | Human | 29117 | Details Get a Quote |
| BRD7 Knockout A-549 Cell Line | EDJ-KQ64587 | Human | 29117 | Details Get a Quote |
| BRD7 Knockout HCT 116 Cell Line | EDJ-KQ73041 | Human | 29117 | Details Get a Quote |