BRD9

Chr 5

bromodomain containing 9

Also known as: LAVS3040, PRO9856, SMARCI2

NCBI Gene: 65980ENSG00000028310UniProt: Q9H8M2

Enables lysine-acetylated histone binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of SWI/SNF complex. [provided by Alliance of Genome Resources, Apr 2025]

0
ClinVar variants
0
Pathogenic / LP
0.02
pLI score
0
Active trials
Clinical Summary— BRD9
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.30) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.52LOEUF
pLI 0.015
Z-score 3.57
OE 0.30 (0.18–0.52)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.26Z-score
OE missense 0.81 (0.73–0.89)
285 obs / 351.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.30 (0.18–0.52)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.81 (0.73–0.89)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.05
0≤1.21.6
LoF obs/exp: 9 / 30.1Missense obs/exp: 285 / 351.7Syn Z: -0.45

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BRD9 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
BRD9 inhibition overcomes oncolytic virus therapy resistance in glioblastoma.
Guo C et al.·Cell Rep Med
2025
Mammalian SWI/SNF complex activity regulates POU2F3 and constitutes a targetable dependency in small cell lung cancer.
Duplaquet L et al.·Cancer Cell
2024
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Barish S et al.·Am J Hum Genet
2020Functional
BRD9 promotes the progression of gallbladder cancer via CST1 upregulation and interaction with FOXP1 through the PI3K/AKT pathway and represents a therapeutic target.
Qiang J et al.·Gene Ther
2024
miR-140-3p functions as a tumor suppressor in squamous cell lung cancer by regulating BRD9.
Huang H et al.·Cancer Lett
2019Meta-analysis
BRD9 Degradation Disrupts Ribosome Biogenesis in Multiple Myeloma.
Kurata K et al.·Clin Cancer Res
2023
A Phase I Study of FHD-609, a Heterobifunctional Degrader of Bromodomain-Containing Protein 9, in Patients with Advanced Synovial Sarcoma or SMARCB1-Deficient Tumors.
Livingston JA et al.·Clin Cancer Res
2025Clinical trial
BRD9 promotes the malignant phenotype of thyroid cancer by activating the MAPK/ERK pathway.
Deng Y et al.·Anticancer Drugs
2025
Prostate cancer exploits BRD9-driven metabolic reprogramming to shape the aggressive phenotype.
Lv Y et al.·Cell Death Dis
2025
New targeted treatments for advanced sarcomas.
Li CC et al.·Curr Opin Oncol
2023Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools