BMP7 Gene - Bone Morphogenetic Protein 7
Key regulator of bone formation, kidney development, and cellular differentiation
Gene Information Card
| Symbol | BMP7 |
|---|---|
| Full Name | Bone Morphogenetic Protein 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.31 |
| NCBI Gene ID | 655 ncbi.nlm.nih.gov/gene/655 |
| Ensembl ID | ENSG00000101144 |
| UniProt ID | P18075 |
| OMIM ID | 112267 |
| HGNC ID | 1074 |
| Aliases | OP-1, OP1, BMP-7 |
Description
BMP7 (Bone Morphogenetic Protein 7) is a member of the transforming growth factor-beta (TGF-β) superfamily. It plays critical roles in embryonic development, particularly in bone formation, kidney morphogenesis, and eye development. BMP7 signals through type I and type II serine/threonine kinase receptors, activating SMAD-dependent and SMAD-independent pathways. It is involved in osteogenesis, chondrogenesis, and tissue homeostasis, and has been implicated in renal fibrosis, cancer, and skeletal disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital anomalies of kidney and urinary tract (CAKUT) | BMP7 deficiency disrupts ureteric bud branching and nephron formation | OMIM, NCBI |
| Osteoporosis | Reduced BMP7 signaling impairs bone formation and osteoblast differentiation | NCBI, PubMed |
| Prostate cancer | BMP7 acts as a tumor suppressor by inhibiting epithelial-mesenchymal transition (EMT) | COSMIC, PubMed |
| Renal fibrosis | Loss of BMP7 promotes TGF-β1-driven fibrogenesis in chronic kidney disease | NCBI, PubMed |
| Hereditary motor and sensory neuropathy (HMSN) | BMP7 mutations linked to peripheral nerve development defects | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Bone | 8.3 | Medium |
| Lung | 6.1 | Medium |
| Liver | 2.4 | Low |
| Heart | 1.8 | Low |
| Brain | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cell line |
| Saos-2 | 9.8 | Osteosarcoma cell line |
| A549 | 4.5 | Lung carcinoma cell line |
| HepG2 | 1.2 | Hepatocellular carcinoma cell line |
| MCF7 | 0.7 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Cys) | Missense | <0.01% | Reduced receptor binding and signaling activity |
| c.1465G>A (p.Gly489Arg) | Missense | <0.01% | Impaired SMAD activation |
| c.1234_1235insA | Frameshift | <0.01% | Loss of function, truncated protein |
| c.789G>T (p.Trp263Cys) | Missense | <0.01% | Altered protein folding and secretion |
Mutation functional classification
Loss of Function (LOF)
Most BMP7 missense and frameshift mutations lead to loss of function by disrupting receptor binding, SMAD signaling, or protein stability.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in BMP7.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg358Cys) may exert dominant-negative effects by forming inactive heterodimers with wild-type BMP7.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• Signaling pathways regulating pluripotency of stem cells (KEGG: hsa04550)
• BMP signaling pathway (Reactome: R-HSA-201451)
Protein Summary
BMP7 is a secreted protein of 431 amino acids (precursor) that undergoes proteolytic processing to generate a mature homodimer. The mature form contains a conserved TGF-β domain with seven cysteine residues forming a cystine knot structure. It binds to BMPR1A, BMPR1B, and BMPR2 receptors, activating SMAD1/5/8 and MAPK pathways. BMP7 is essential for osteoblast differentiation, kidney development, and maintaining epithelial integrity. Recombinant BMP7 (OP-1) is used clinically in bone grafting and spinal fusion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BMP7 Knockout HEK293 Cell Line | EDJ-KQ370 | Human | 655 | Details Get a Quote |
| BMP7 Knockout HCT 116 Cell Line | EDJ-KQ18566 | Human | 655 | Details Get a Quote |
| BMP7 Knockout HeLa Cell Line | EDJ-KQ52727 | Human | 655 | Details Get a Quote |
| BMP7 Knockout A-549 Cell Line | EDJ-KQ61199 | Human | 655 | Details Get a Quote |
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