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50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BMP2
bone morphogenetic protein 2
Chromosome 20 · 20p12.3
NCBI Gene: 650Ensembl: ENSG00000125845.8HGNC: HGNC:1069UniProt: C8C060
738PubMed Papers
22Diseases
0Drugs
31Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Highly Studied
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of cartilage developmentcytokine activityBMP receptor complexprotein bindingshort stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1brachydactyly type A2short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomaliescolorectal cancer
✦AI Summary

BMP2 is a TGF-β superfamily growth factor essential for bone and cartilage formation, with roles in cardiogenesis and neurogenesis 12. BMP2 initiates canonical signaling by binding type I receptor BMPR1A and type II receptor BMPR2, leading to BMPR2-mediated phosphorylation and activation of BMPR1A, which phosphorylates SMAD1/5/8 for nuclear translocation and transcriptional regulation 34. Beyond canonical pathways, BMP2 signals through ERK/MAP kinase cascades and the EIF2AK3-EIF2A-ATF4 pathway to regulate osteoblast differentiation 52. BMP2 promotes odontoblast differentiation during tooth development 67. Clinically, BMP2 dysregulation associates with disease: elevated BMP2 signaling in preeclampsia may compensate for shallow trophoblast invasion 8, while high BMP2/4 expression in SMAD4-negative esophageal adenocarcinoma drives aggressive non-canonical signaling responsive to therapeutic BMP2/4 inhibition 9. BMP2 suppresses pentraxin 3 production in endometrial stromal cells through canonical ALK2/3-SMAD1/5-SMAD4 signaling, potentially regulating decidualization 10. In aortic valve disease, BMP2 promotes osteogenic differentiation via Wnt and Runx2 signaling 11.

Sources cited
1
Clinically, BMP2 dysregulation associates with disease: elevated BMP2 signaling in preeclampsia may compensate for shallow trophoblast invasion , while high BMP2/4 expression in SMAD4-negative esophageal adenocarcinoma drives aggressive non-canonical signaling responsive to therapeutic BMP2/4 inhibition .
PMID: 37331163
2
Clinically, BMP2 dysregulation associates with disease: elevated BMP2 signaling in preeclampsia may compensate for shallow trophoblast invasion , while high BMP2/4 expression in SMAD4-negative esophageal adenocarcinoma drives aggressive non-canonical signaling responsive to therapeutic BMP2/4 inhibition .
PMID: 35902550
3
BMP2 suppresses pentraxin 3 production in endometrial stromal cells through canonical ALK2/3-SMAD1/5-SMAD4 signaling, potentially regulating decidualization .
PMID: 35429060
4
In aortic valve disease, BMP2 promotes osteogenic differentiation via Wnt and Runx2 signaling .
PMID: 29258711
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ22
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1Open Targets
0.74Strong
brachydactyly type A2Open Targets
0.67Moderate
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomaliesOpen Targets
0.63Moderate
colorectal cancerOpen Targets
0.52Moderate
open-angle glaucomaOpen Targets
0.51Moderate
glaucomaOpen Targets
0.51Moderate
nontoxic goiterOpen Targets
0.49Moderate
multinodular goiterOpen Targets
0.48Moderate
atrial fibrillationOpen Targets
0.47Moderate
neurodegenerative diseaseOpen Targets
0.44Moderate
Abnormality of the skeletal systemOpen Targets
0.44Moderate
refractive errorOpen Targets
0.44Moderate
colonic neoplasmOpen Targets
0.41Moderate
cleft palateOpen Targets
0.41Moderate
osteoarthritis, hipOpen Targets
0.39Weak
Toxic Nodular GoiterOpen Targets
0.38Weak
hereditary hemochromatosis type 1Open Targets
0.37Weak
myopiaOpen Targets
0.36Weak
male reproductive system diseaseOpen Targets
0.36Weak
Abnormality of refractionOpen Targets
0.35Weak
Brachydactyly A2UniProt
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1UniProt
Pathogenic Variants31
NM_001200.4(BMP2):c.685G>T (p.Glu229Ter)Pathogenic
not provided
★★☆☆2025→ Residue 229
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter)Pathogenic
not provided|Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
★★☆☆2024→ Residue 154
NM_001200.4(BMP2):c.275C>A (p.Ser92Ter)Pathogenic
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1|not provided
★★☆☆2024→ Residue 92
NM_001200.4(BMP2):c.405_409del (p.Asn135fs)Pathogenic
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1|not provided
★★☆☆2024→ Residue 135
NM_001200.4(BMP2):c.508C>T (p.Arg170Ter)Pathogenic
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies|not provided|Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
★★☆☆2023→ Residue 170
NM_001200.4(BMP2):c.231dup (p.Tyr78fs)Pathogenic
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1|not provided
★★☆☆2023→ Residue 78
NM_001200.4(BMP2):c.43C>T (p.Gln15Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 15
NM_001200.4(BMP2):c.326_327del (p.Val109fs)Likely pathogenic
not provided
★☆☆☆2025→ Residue 109
NM_001200.4(BMP2):c.217_218dup (p.Val74fs)Pathogenic
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
★☆☆☆2024→ Residue 74
NM_001200.4(BMP2):c.197_198del (p.Arg66fs)Pathogenic
not provided
★☆☆☆2024→ Residue 66
NM_001200.4(BMP2):c.892A>T (p.Arg298Ter)Pathogenic
not provided
★☆☆☆2024→ Residue 298
NM_001200.4(BMP2):c.1026dup (p.Ala343fs)Likely pathogenic
BMP2-related disorder
★☆☆☆2023→ Residue 343
NM_001200.4(BMP2):c.834_835del (p.Glu280fs)Pathogenic
not provided
★☆☆☆2022→ Residue 280
NM_001200.4(BMP2):c.613G>T (p.Glu205Ter)Pathogenic
not provided|Type A2 brachydactyly;Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
★☆☆☆2022→ Residue 205
NM_001200.4(BMP2):c.754C>T (p.Gln252Ter)Pathogenic
not provided
★☆☆☆2022→ Residue 252
NM_001200.4(BMP2):c.142G>T (p.Glu48Ter)Pathogenic
not provided
★☆☆☆2022→ Residue 48
NM_001200.4(BMP2):c.1191G>C (p.Ter397Tyr)Likely pathogenic
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
★☆☆☆2022→ Residue 397
NM_001200.4(BMP2):c.346+2T>CPathogenic
not provided
★☆☆☆2022
NM_001200.4(BMP2):c.265C>T (p.Gln89Ter)Pathogenic
not provided
★☆☆☆2021→ Residue 89
NM_001200.4(BMP2):c.939G>A (p.Trp313Ter)Likely pathogenic
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
★☆☆☆2020→ Residue 313
View on ClinVar ↗
Related Genes
ACVR1Protein interaction100%ACVR1BProtein interaction100%BGNProtein interaction100%BMP1Protein interaction100%CHRDProtein interaction100%DLX6Protein interaction98%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
51%
Brain
46%
Liver
35%
Heart
34%
Ovary
19%
Gene Interaction Network
Click a node to explore
BMP2ACVR1ACVR1BBGNBMP1CHRDDLX6
PROTEIN STRUCTURE
Preparing viewer…
PDB2H62 · 1.85 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.21Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.07 [0.03–0.21]
RankingsWhere BMP2 stands among ~20K protein-coding genes
  • #284of 20,598
    Most Researched738 · top 5%
  • #1,771of 5,498
    Most Pathogenic Variants31
  • #522of 17,882
    Most Constrained (LOEUF)0.21 · top 5%
Genes detectedBMP2
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
Human Breast Milk-Derived Extracellular Vesicles Enhance Osteoblast Activation via BMP2/MAPK Signaling Pathways.
PMID: 40711941
J Med Food · 2025
1.00
2
H3K27me3-modulated Hofbauer cell BMP2 signalling enhancement compensates for shallow trophoblast invasion in preeclampsia.
PMID: 37331163
EBioMedicine · 2023
1.00
3
Selective targeting BMP2 and 4 in SMAD4 negative esophageal adenocarcinoma inhibits tumor growth and aggressiveness in preclinical models.
PMID: 35902550
Cell Oncol (Dordr) · 2022
0.90
4
Co-transfection with
PMID: 33769121
J Int Med Res · 2021
0.88
5
DNA methylation of GJA1, BMP2 and BMP4 in a human cementoblast cell line induced by lipopolysaccharide.
PMID: 32011747
Int Endod J · 2020
0.84