BMP2 (Bone Morphogenetic Protein 2) Gene
A key regulator of bone and cartilage formation, with implications in skeletal development and disease.
Gene Information Card
| Symbol | BMP2 |
|---|---|
| Full Name | Bone Morphogenetic Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 20p12.3 |
| NCBI Gene ID | 650 ncbi.nlm.nih.gov/gene/650 |
| Ensembl ID | ENSG00000125845 |
| UniProt ID | P12643 |
| OMIM ID | 112261 |
| HGNC ID | 1069 |
| Aliases | BMP2A, BMP-2, BDA2, SSFSC1 |
Description
The BMP2 gene encodes bone morphogenetic protein 2, a secreted ligand of the transforming growth factor-beta (TGF-beta) superfamily. BMP2 plays a critical role in bone and cartilage formation, embryonic development, and cellular differentiation. It binds to BMP receptors (BMPR1A/BMPR2) and activates SMAD-dependent signaling pathways, regulating the expression of genes involved in osteogenesis and chondrogenesis. Mutations and dysregulation of BMP2 are associated with skeletal abnormalities and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Brachydactyly, type A2 (BDA2) | Heterozygous missense mutations in BMP2 disrupt ligand-receptor interaction or signaling, leading to abnormal digit development. | OMIM #112261; ClinVar |
| Short stature, facial dysmorphism, and skeletal anomalies (SSFSC1) | Loss-of-function mutations or deletions of BMP2 impair skeletal growth and development. | OMIM #112261; ClinVar |
| Fibrodysplasia ossificans progressiva (FOP) - modifier | BMP2 signaling is implicated in ectopic bone formation, though causative mutations are in ACVR1; BMP2 may modify severity. | OMIM #135100; literature |
| Cancers (e.g., lung, breast, prostate) | Overexpression or aberrant BMP2 signaling can promote tumor progression, invasion, and metastasis in certain contexts. | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 5.6 | Low |
| Bone marrow | 3.2 | Low |
| Kidney | 2.1 | Low |
| Liver | 1.8 | Low |
| Brain | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 0.8 | Low expression |
| MCF7 (breast cancer) | 1.2 | Low expression |
| HepG2 (liver cancer) | 0.5 | Low expression |
| K562 (leukemia) | 0.3 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.94A>G (p.Thr32Ala) | Missense | Rare | Associated with brachydactyly type A2; disrupts BMP2 signaling. |
| c.106G>A (p.Gly36Arg) | Missense | Rare | Reported in short stature and skeletal anomalies; affects protein function. |
| c.112_113del (p.Leu38ValfsTer19) | Frameshift | Rare | Loss-of-function; leads to haploinsufficiency. |
| c.205C>T (p.Arg69Trp) | Missense | Rare | Pathogenic in BDA2; impairs receptor binding. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., frameshift, nonsense) reduce BMP2 protein levels or activity, leading to skeletal developmental defects such as brachydactyly and short stature.
Gain of Function (GOF)
Gain-of-function mutations are rare; overexpression of BMP2 in tumors can enhance oncogenic signaling, but no clear activating mutations are documented.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by forming nonfunctional dimers with wild-type BMP2, interfering with normal signaling.
View complete mutation data：
Gene Ontology (GO)
| • growth factor activity | • cytokine activity |
| • BMP receptor binding | • SMAD binding |
| • extracellular space | • regulation of osteoblast differentiation |
| • positive regulation of cartilage development | • cell differentiation |
Pathways
• TGF-beta signaling pathway
• BMP signaling pathway
• Osteoclast differentiation
• Signaling pathways regulating pluripotency of stem cells
Protein Summary
BMP2 is a secreted homodimeric protein that undergoes proteolytic processing to produce a mature active form. It binds to BMP receptor complexes (BMPR1A/BMPR2) and activates SMAD1/5/8 phosphorylation, which then translocates to the nucleus to regulate target gene transcription. BMP2 is essential for bone formation, fracture healing, and maintenance of bone homeostasis. Recombinant human BMP2 is used clinically in spinal fusion and bone repair procedures.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BMP2 Knockout HEK293 Cell Line | EDJ-KQ367 | Human | 650 | Details Get a Quote |
| BMP2K Knockout HEK293 Cell Line | EDJ-KQ12548 | Human | 55589 | Details Get a Quote |
| BMP2 Knockout HeLa Cell Line | EDJ-KQ18558 | Human | 650 | Details Get a Quote |
| BMP2K Knockout A-549 Cell Line | EDJ-KQ41552 | Human | 55589 | Details Get a Quote |
| BMP2K Knockout HCT 116 Cell Line | EDJ-KQ41553 | Human | 55589 | Details Get a Quote |
| BMP2K Knockout HeLa Cell Line | EDJ-KQ41554 | Human | 55589 | Details Get a Quote |
| BMP2 Knockout A-549 Cell Line | EDJ-KQ61196 | Human | 650 | Details Get a Quote |
| BMP2 Knockout HCT 116 Cell Line | EDJ-KQ69688 | Human | 650 | Details Get a Quote |
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