BMP3 Gene - Bone Morphogenetic Protein 3
A key regulator of bone formation and tumor suppression
Gene Information Card
| Symbol | BMP3 |
|---|---|
| Full Name | Bone Morphogenetic Protein 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q21.21 |
| NCBI Gene ID | 651 ncbi.nlm.nih.gov/gene/651 |
| Ensembl ID | ENSG00000152778 |
| UniProt ID | P12645 |
| OMIM ID | 112263 |
| HGNC ID | 1070 |
| Aliases | BMP-3, osteogenin |
Description
BMP3 (Bone Morphogenetic Protein 3) is a member of the transforming growth factor-beta (TGF-β) superfamily. It is involved in bone formation and development, acting as a negative regulator of bone density. BMP3 is also implicated in tumor suppression, with reduced expression observed in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoporosis | BMP3 negatively regulates bone formation; altered expression contributes to low bone mass. | OMIM, NCBI |
| Lung cancer | BMP3 promoter hypermethylation leads to gene silencing, promoting tumor progression. | COSMIC, ClinVar |
| Colorectal cancer | Loss of BMP3 expression via methylation is associated with poor prognosis. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 0.8 | Low |
| Bone | 1.2 | Low |
| Kidney | 0.5 | Low |
| Prostate | 0.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung) | 0.6 | Low expression |
| HCT116 (colon) | 0.4 | Low expression |
| MCF7 (breast) | 0.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Nonsense | <0.01% | Loss of function |
| c.200_201del | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of BMP3 activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • BMP signaling pathway | • negative regulation of osteoblast differentiation |
| • extracellular region | • growth factor activity |
Pathways
• TGF-beta signaling pathway
• BMP signaling pathway
Protein Summary
BMP3 encodes a secreted protein that acts as a ligand in the BMP signaling pathway. It is synthesized as a precursor and cleaved to form a mature dimer. BMP3 is unique among BMPs as it inhibits osteogenesis and bone formation, contrasting with other BMPs that promote bone growth.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BMP3 Knockout HEK293 Cell Line | EDJ-KQ2031 | Human | 651 | Details Get a Quote |
| BMP3 Knockout HeLa Cell Line | EDJ-KQ52725 | Human | 651 | Details Get a Quote |
| BMP3 Knockout A-549 Cell Line | EDJ-KQ61197 | Human | 651 | Details Get a Quote |
| BMP3 Knockout HCT 116 Cell Line | EDJ-KQ69689 | Human | 651 | Details Get a Quote |
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