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29 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BMP6
bone morphogenetic protein 6
Chromosome 6 · 6p24.3
NCBI Gene: 654Ensembl: ENSG00000153162.10HGNC: HGNC:1073UniProt: B4DUF7
169PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
multicellular organismal-level iron ion homeostasisprotein bindingprotein heterodimerization activityBMP receptor bindingTangier diseaseosteoarthritis, kneeosteoarthritis, hipHernia
✦AI Summary

BMP6 is a TGF-β superfamily growth factor with dual roles in skeletal development and iron homeostasis. Functionally, BMP6 promotes bone and cartilage formation 1 while serving as a critical regulator of systemic iron metabolism by stimulating hepcidin (HAMP) expression through interaction with hemojuvelin and its receptor BMPR1A/ALK3 23. BMP6 initiates canonical signaling by binding type I receptor ACVR1 and type II receptor ACVR2B, leading to SMAD1/5/8 phosphorylation and nuclear translocation 4. Additionally, BMP6 modulates non-canonical pathways including TAZ-Hippo and VEGF signaling 5. Clinically, BMP6 dysregulation associates with iron overload disorders. The endothelial mTORC2-Foxo1 axis senses iron levels and directly activates BMP6 transcription to regulate hepcidin, with therapeutic potential in hereditary hemochromatosis 6. BMP5 functionally cooperates with BMP6 in hepcidin regulation, particularly when BMP6 is limited 7. In cancer, BMP6 functions as a tumor suppressor through gene methylation-mediated silencing, affecting epithelial-mesenchymal transition and cell proliferation variably across cancer types 8. BMP6 polymorphisms associate with osteonecrosis risk in sickle cell anemia 9, and emerging evidence implicates BMP6 in diabetic cardiorenal complications via endothelial cell communication 10.

Sources cited
1
BMP6 plays essential roles in cartilage and bone formation as a TGF-beta superfamily growth factor
PMID: 31019025
2
BMP6 regulates hepcidin expression and iron metabolism by acting as a ligand for hemojuvelin
PMID: 26582087
3
BMP6 promotes HAMP expression via interaction with receptor BMPR1A/ALK3
PMID: 30097509
4
BMP6 initiates canonical BMP signaling through type I receptor ACVR1 and type II receptor ACVR2B, phosphorylating SMAD1/5/8
PMID: 18070108
5
BMP6 can signal through non-canonical TAZ-Hippo pathway to modulate VEGF signaling and VEGFR2 expression
PMID: 33021694
6
Endothelial Foxo1 directly activates BMP6 transcription in response to iron to regulate hepcidin and systemic iron homeostasis
PMID: 40561335
7
BMP5 functionally cooperates with BMP6 in hepcidin and systemic iron homeostasis regulation, particularly when BMP6 is limited
PMID: 37478395
8
BMP6 is coded by a tumor suppressor gene; methylation-mediated silencing relates to cancer development and progression affecting EMT, cell growth and proliferation
PMID: 34706618
9
BMP6 rs3812163 polymorphism is associated with osteonecrosis risk in sickle cell anemia cohorts
PMID: 38323352
10
BMP6 is implicated in diabetic cardiorenal complications through endothelial cell communication pathways
PMID: 40012066
Disease Associationsⓘ21
Tangier diseaseOpen Targets
0.65Moderate
osteoarthritis, kneeOpen Targets
0.48Moderate
osteoarthritis, hipOpen Targets
0.44Moderate
HerniaOpen Targets
0.44Moderate
Abnormal meniscus morphologyOpen Targets
0.40Moderate
Hallux rigidusOpen Targets
0.40Weak
osteoarthritisOpen Targets
0.38Weak
sleep apneaOpen Targets
0.38Weak
injuryOpen Targets
0.38Weak
Abnormality of the skeletal systemOpen Targets
0.38Weak
prostate adenocarcinomaOpen Targets
0.37Weak
spinal stenosisOpen Targets
0.35Weak
Inguinal herniaOpen Targets
0.34Weak
medical procedureOpen Targets
0.34Weak
total knee arthroplastyOpen Targets
0.33Weak
Umbilical herniaOpen Targets
0.33Weak
ventral herniaOpen Targets
0.33Weak
joint diseaseOpen Targets
0.30Weak
total hip arthroplastyOpen Targets
0.30Weak
spondylosisOpen Targets
0.27Weak
Iron overloadUniProt
Pathogenic Variants1
NM_001718.6(BMP6):c.409C>A (p.Leu137Met)Likely pathogenic
Premature ovarian failure
★☆☆☆2020→ Residue 137
View on ClinVar ↗
Related Genes
ACVR2BProtein interaction100%BGNProtein interaction98%CHRDProtein interaction98%AMHR2Protein interaction97%BGLAPProtein interaction97%MICOS10-NBL1Protein interaction97%
Tissue Expression6 tissues
Lung
100%
Ovary
81%
Heart
70%
Brain
54%
Liver
14%
Bone Marrow
11%
Gene Interaction Network
Click a node to explore
BMP6ACVR2BBGNCHRDAMHR2BGLAPMICOS10-NBL1
PROTEIN STRUCTURE
Preparing viewer…
PDB2R53 · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.52Moderately Constrained
pLIⓘ
0.94Intolerant
Observed/Expected LoF0.35 [0.24–0.52]
RankingsWhere BMP6 stands among ~20K protein-coding genes
  • #2,616of 20,598
    Most Researched169 · top quartile
  • #4,756of 5,498
    Most Pathogenic Variants1
  • #3,238of 17,882
    Most Constrained (LOEUF)0.52 · top quartile
Genes detectedBMP6
Sources retrieved29 papers
Response time—
📄 Sources
29▼
1
Cardiovascular Risk Biomarkers in Women with and Without Polycystic Ovary Syndrome.
PMID: 39858399
Biomolecules · 2024
1.00
2
H3K27me3-modulated Hofbauer cell BMP2 signalling enhancement compensates for shallow trophoblast invasion in preeclampsia.
PMID: 37331163
EBioMedicine · 2023
1.00
3
The endothelial mTORC2-Foxo1 axis serves as an iron-responsive sensor governing systemic iron homeostasis.
PMID: 40561335
Blood · 2025
0.90
4
NEAT1 inhibits granulosa cell apoptosis and promotes cell growth and migration through the miR-130a-3p/BMP6 axis.
PMID: 41175770
Reprod Biomed Online · 2025
0.80
5
Role of the BMP6 protein in breast cancer and other types of cancer.
PMID: 34706618
Growth Factors · 2021
0.80