BMP6 Gene (Bone Morphogenetic Protein 6)
Key regulator of bone formation, iron metabolism, and cellular differentiation
Gene Information Card
| Symbol | BMP6 |
|---|---|
| Full Name | Bone Morphogenetic Protein 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p24.3 |
| NCBI Gene ID | 654 ncbi.nlm.nih.gov/gene/654 |
| Ensembl ID | ENSG00000153162 |
| UniProt ID | P22004 |
| OMIM ID | 112266 |
| HGNC ID | 1073 |
| Aliases | VGR, VGR1, BMP-6 |
Description
BMP6 is a member of the bone morphogenetic protein (BMP) subfamily of the TGF-beta superfamily. It plays critical roles in bone and cartilage development, iron homeostasis, and regulation of cell growth and differentiation. BMP6 signals through type I and type II BMP receptors to activate SMAD-dependent and independent pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Hemochromatosis type 5 (HFE5) | Loss-of-function mutations in BMP6 impair hepcidin regulation, leading to iron overload. | OMIM #615626; ClinVar |
| Prostate Cancer | BMP6 overexpression is associated with osteoblastic bone metastases and poor prognosis. | COSMIC; PMID: 19029981 |
| Osteoporosis | Reduced BMP6 expression or signaling contributes to decreased bone formation. | NCBI Gene; PMID: 20877624 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 3.2 | Low |
| Bone marrow | 8.7 | Medium |
| Kidney | 4.1 | Low |
| Lung | 6.5 | Medium |
| Prostate | 12.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 2.1 | Hepatocellular carcinoma cell line |
| MCF7 (breast) | 1.5 | Breast adenocarcinoma cell line |
| PC3 (prostate) | 15.8 | Prostate cancer cell line; high expression |
| Saos-2 (bone) | 22.4 | Osteosarcoma cell line; high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.580G>A (p.Gly194Arg) | Missense | <0.01% | Loss of function; associated with hemochromatosis type 5 |
| c.637C>T (p.Arg213Trp) | Missense | <0.01% | Loss of function; impaired hepcidin activation |
| c.1040G>A (p.Arg347His) | Missense | <0.01% | Uncertain significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the prodomain or mature domain reduce BMP6 secretion and signaling, leading to iron overload.
Gain of Function (GOF)
Not well documented; overexpression in tumors may promote metastasis.
Dominant Negative (DN)
Not reported for BMP6.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• BMP signaling pathway (Reactome: R-HSA-201451)
• Iron homeostasis (Reactome: R-HSA-917937)
Protein Summary
BMP6 is a secreted ligand of the TGF-beta superfamily. The precursor protein undergoes proteolytic processing to generate a mature dimeric protein. It binds to BMP receptors (BMPR1A, BMPR1B, BMPR2) and activates SMAD1/5/8 transcription factors. BMP6 is a potent inducer of bone and cartilage formation and a key regulator of hepcidin expression in the liver, thereby controlling systemic iron levels.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BMP6 Knockout HEK293 Cell Line | EDJ-KQ369 | Human | 654 | Details Get a Quote |
| BMP6 Knockout A-549 Cell Line | EDJ-KQ18563 | Human | 654 | Details Get a Quote |
| BMP6 Knockout HCT 116 Cell Line | EDJ-KQ18564 | Human | 654 | Details Get a Quote |
| BMP6 Knockout HeLa Cell Line | EDJ-KQ18565 | Human | 654 | Details Get a Quote |
