BMP5 Gene - Bone Morphogenetic Protein 5
Comprehensive gene card for BMP5, a member of the TGF-beta superfamily involved in skeletal development and tissue homeostasis.
Gene Information Card
| Symbol | BMP5 |
|---|---|
| Full Name | Bone Morphogenetic Protein 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p12.1 |
| NCBI Gene ID | 653 ncbi.nlm.nih.gov/gene/653 |
| Ensembl ID | ENSG00000138675 |
| UniProt ID | P22003 |
| OMIM ID | 112265 |
| HGNC ID | 1070 |
| Aliases | BMP-5, MGC34244 |
Description
BMP5 (Bone Morphogenetic Protein 5) is a member of the bone morphogenetic protein (BMP) family, which belongs to the transforming growth factor-beta (TGF-β) superfamily. BMPs are involved in bone and cartilage development, cell differentiation, and tissue patterning. BMP5 plays a critical role in skeletal development, particularly in the formation of the sternum, ribs, and vertebrae, and is also implicated in soft tissue homeostasis and repair.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Scoliosis | BMP5 variants may alter vertebral development and spinal curvature regulation. | PMID: 28406497 |
| Osteoarthritis | BMP5 expression changes in articular cartilage contribute to joint degeneration. | PMID: 25630241 |
| Hereditary multiple exostoses | BMP5 dysregulation linked to abnormal bone growth. | PMID: 23354436 |
| Craniosynostosis | BMP5 signaling disruption affects cranial suture fusion. | PMID: 26908622 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Bone | 15.2 | High |
| Cartilage | 18.9 | High |
| Heart | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 4.5 | Low expression |
| A549 | 7.8 | Medium expression |
| MCF7 | 2.3 | Low expression |
| Saos-2 | 22.1 | High expression (osteosarcoma) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042G>A (p.Gly348Arg) | Missense | <0.01% | Altered protein folding and reduced activity |
| c.787C>T (p.Arg263Trp) | Missense | <0.01% | Impaired receptor binding |
| c.1234delC | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated or unstable protein, reducing BMP signaling.
Gain of Function (GOF)
Not commonly reported; some missense variants may increase receptor affinity but are rare.
Dominant Negative (DN)
Missense mutations in the mature domain can interfere with dimerization and signaling.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• BMP signaling pathway (Reactome: R-HSA-201451)
• Osteoclast differentiation (KEGG: hsa04380)
Protein Summary
BMP5 is a secreted protein that forms homodimers or heterodimers with other BMPs. It binds to type I and type II serine/threonine kinase receptors (e.g., BMPR1A, BMPR2), activating SMAD-dependent and SMAD-independent signaling cascades. The mature protein contains a conserved TGF-beta domain and is processed from a larger precursor. BMP5 is essential for normal skeletal patterning and has roles in kidney, lung, and heart development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BMP5 Knockout HEK293 Cell Line | EDJ-KQ120 | Human | 653 | Details Get a Quote |
| BMP5 Knockout HeLa Cell Line | EDJ-KQ52726 | Human | 653 | Details Get a Quote |
| BMP5 Knockout A-549 Cell Line | EDJ-KQ61198 | Human | 653 | Details Get a Quote |
| BMP5 Knockout HCT 116 Cell Line | EDJ-KQ69690 | Human | 653 | Details Get a Quote |
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