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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BMP3
bone morphogenetic protein 3
Chromosome 4 · 4q21.21
NCBI Gene: 651Ensembl: ENSG00000152785.9HGNC: HGNC:1070UniProt: P12645
43PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomenegative regulation of ossificationBMP receptor bindingcell surface receptor protein serine/threonine kinase signaling pathwaymyopiacataractHypermetropiaretinal detachment
✦AI Summary

BMP3 is a TGF-β superfamily member that functions as a negative regulator of bone formation. While historically considered osteogenic, BMP3 actually antagonizes osteogenic BMP signaling rather than promoting bone formation itself 1. BMP3 signals through TGF-β/activin pathways, activating SMAD-dependent cascades that compete with BMP2-induced osteogenesis 1. In vivo, Bmp3-deficient mice exhibit increased trabecular bone, confirming BMP3's inhibitory role in osteogenesis 1. Conversely, BMP3 promotes differentiation of mesenchymal stem cells toward nucleus pulposus-like phenotypes, enhancing cell proliferation and glycosaminoglycan content through TGF-β pathway activation 2. BMP3 is notably the most abundant BMP in demineralized bone matrix, suggesting it modulates osteogenic BMP activity in vivo 1. Beyond skeletal development, aberrant BMP3 promoter methylation serves as a clinical biomarker for colorectal cancer detection 345. Combined BMP3 and SEPT9 methylation analysis in plasma achieves 80% sensitivity and 81% specificity for CRC detection when paired with age assessment 5. Additionally, upregulation of BMP signaling, including BMP3, underlies intrapulpal calcifications in enamel renal syndrome 6.

Sources cited
1
BMP3 antagonizes BMP2 osteogenic signaling, activates TGF-β/activin pathways, and Bmp3-deficient mice show increased trabecular bone
PMID: 11263666
2
BMP3 promotes mesenchymal stem cell differentiation into nucleus pulposus-like cells through TGF-β signaling
PMID: 26343641
3
BMP3 methylation in stool DNA is used in multitarget testing for colorectal cancer screening
PMID: 24645800
4
NDRG4 and BMP3 methylation combination is an approved diagnostic biomarker for colorectal cancer
PMID: 35307512
5
Combined SEPT9 and BMP3 plasma methylation achieves superior CRC detection performance with 80% sensitivity and 81% specificity
PMID: 37338022
6
BMP3 upregulation contributes to intrapulpal calcifications in enamel renal syndrome through enhanced BMP signaling
PMID: 37159186
Disease Associationsⓘ20
myopiaOpen Targets
0.49Moderate
cataractOpen Targets
0.49Moderate
HypermetropiaOpen Targets
0.47Moderate
retinal detachmentOpen Targets
0.42Moderate
retinal perforationOpen Targets
0.41Moderate
refractive errorOpen Targets
0.41Moderate
Progressive visual lossOpen Targets
0.35Weak
Abnormality of refractionOpen Targets
0.35Weak
lens diseaseOpen Targets
0.34Weak
migraine disorderOpen Targets
0.32Weak
benign prostatic hyperplasiaOpen Targets
0.31Weak
alopeciaOpen Targets
0.31Weak
temporomandibular joint disorderOpen Targets
0.25Weak
cystic kidney diseaseOpen Targets
0.25Weak
hair colorOpen Targets
0.21Weak
primary angle closure glaucomaOpen Targets
0.18Weak
alcohol drinkingOpen Targets
0.15Weak
osteoarthritis, kneeOpen Targets
0.13Weak
neutropeniaOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BMPR1AProtein interaction100%BMPR1BProtein interaction99%AMBNProtein interaction78%ACVR2BProtein interaction75%NDRG4Protein interaction69%ACVR2AProtein interaction54%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
28%
Lung
18%
Brain
4%
Liver
1%
Heart
0%
Gene Interaction Network
Click a node to explore
BMP3BMPR1ABMPR1BAMBNACVR2BNDRG4ACVR2A
PROTEIN STRUCTURE
Preparing viewer…
PDB2QCQ · 2.21 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.58 [0.41–0.83]
RankingsWhere BMP3 stands among ~20K protein-coding genes
  • #9,696of 20,598
    Most Researched43
  • #7,158of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedBMP3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Multitarget stool DNA testing for colorectal-cancer screening.
PMID: 24645800
N Engl J Med · 2014
1.00
2
DNA methylation-based diagnostic, prognostic, and predictive biomarkers in colorectal cancer.
PMID: 35307512
Biochim Biophys Acta Rev Cancer · 2022
0.90
3
BMP3: to be or not to be a BMP.
PMID: 11263666
J Bone Joint Surg Am · 2001
0.80
4
BMP3 Alone and Together with TGF-β Promote the Differentiation of Human Mesenchymal Stem Cells into a Nucleus Pulposus-Like Phenotype.
PMID: 26343641
Int J Mol Sci · 2015
0.70
5
Combined SEPT9 and BMP3 methylation in plasma for colorectal cancer early detection and screening in a Brazilian population.
PMID: 37338022
Cancer Med · 2023
0.60