BRD9 Gene - Bromodomain Containing 9
A chromatin remodeler subunit and emerging cancer target
Gene Information Card
| Symbol | BRD9 |
|---|---|
| Full Name | Bromodomain Containing 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 5p15.33 |
| NCBI Gene ID | 65982 ncbi.nlm.nih.gov/gene/65982 |
| Ensembl ID | ENSG00000128322 |
| UniProt ID | Q9H8M2 |
| OMIM ID | 616368 |
| HGNC ID | 25897 |
| Aliases | BRD9, CELTIX1, FLJ20309, MGC138499 |
Description
BRD9 encodes a bromodomain-containing protein that is a subunit of the SWI/SNF chromatin remodeling complex. It specifically recognizes acetylated lysine residues on histones, facilitating chromatin remodeling and transcriptional regulation. BRD9 is implicated in cancer, particularly in SMARCB1-deficient tumors, and is a target for small molecule inhibitors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| SMARCB1-deficient tumors (e.g., malignant rhabdoid tumors) | BRD9 is a synthetic lethal target in cells lacking SMARCB1; inhibition of BRD9 impairs SWI/SNF complex function and tumor growth | PMID: 28114270; COSMIC |
| Acute myeloid leukemia (AML) | BRD9 overexpression or mutation may drive leukemogenesis via aberrant chromatin regulation | COSMIC; ClinVar |
| Lung cancer | Recurrent BRD9 mutations and copy number alterations observed in lung adenocarcinoma | COSMIC; NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lung | 6.1 | Low |
| Brain | 4.3 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Embryonic kidney; high expression |
| K562 | 9.8 | Leukemia cell line; moderate |
| A549 | 7.4 | Lung carcinoma; moderate |
| HCT116 | 5.1 | Colorectal carcinoma; low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gly23Asp | Missense | <1% | Unknown; likely benign |
| p.Arg100Trp | Missense | <1% | Unknown; reported in COSMIC |
| p.Glu388Lys | Missense | <1% | Unknown; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • histone binding (GO:0042393) |
| • chromatin remodeling (GO:0006338) | • nucleus (GO:0005634) |
| • chromatin binding (GO:0003682) |
Pathways
• SWI/SNF complex (BAF complex) - chromatin remodeling
• Notch signaling pathway (indirect regulation via chromatin remodeling)
Protein Summary
BRD9 is a 651-amino acid protein containing a single bromodomain that binds acetylated histones. It is a core component of the SWI/SNF (BAF) chromatin remodeling complex, which regulates gene expression by altering nucleosome positioning. BRD9 is essential for the proliferation of SMARCB1-deficient cancer cells, making it a therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BRD9 Knockout HEK293 Cell Line | EDJ-KQ1112 | Human | 65980 | Details Get a Quote |
| BRD9 Knockout HCT 116 Cell Line | EDJ-KQ18952 | Human | 65980 | Details Get a Quote |
| BRD9 Knockout A-549 Cell Line | EDJ-KQ20299 | Human | 65980 | Details Get a Quote |
| BRD9 Knockout HeLa Cell Line | EDJ-KQ20300 | Human | 65980 | Details Get a Quote |
