BMP3

Chr 4

bone morphogenetic protein 3

Also known as: BMP-3A

NCBI Gene: 651ENSG00000152785UniProt: P12645OMIM: 112263

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein suppresses osteoblast differentiation, and negatively regulates bone density, by modulating TGF-beta receptor availability to other ligands. [provided by RefSeq, Jul 2016]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
29
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.65
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.65LOEUF
pLI 0.056
Z-score 2.56
OE 0.31 (0.16–0.65)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.07Z-score
OE missense 0.99 (0.89–1.10)
253 obs / 256.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.31 (0.16–0.65)
0≤0.351.4
Missense OE?0.99 (0.89–1.10)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 5 / 16.1Missense obs/exp: 253 / 256.0Syn Z: -0.72

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BMP3 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients