BMP6

Chr 6p24.3

bone morphogenetic protein 6

Aliases:: VGR1
MANE:: ENST00000283147.7

OMIM: 112266 ↗NCBI: 654 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

BMP6 · P22004

v62025-08-01

Predicted Aligned Error matrix for BMP6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

68.9/ 100

Low

513 residues

Confidence breakdown

Very high(≥ 90)32%
Confident(70–90)27%
Low(50–70)7%
Very low(< 50)35%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Iron metabolism disorders - NOT common HFE mutations
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Tangier disease
0.65
osteoarthritis, knee
0.45
Hernia
0.41
osteoarthritis, hip
0.40
Abnormality of the skeletal system
0.37
prostate adenocarcinoma
0.37
Hallux rigidus
0.36
Abnormal meniscus morphology
0.35
osteoarthritis
0.35
sleep apnea syndrome
0.33

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Bone morphogenetic protein 6

Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes including cartilage and bone formation (PubMed:31019025). Also plays an important role in the regulation of HAMP/hepcidin expression and iron metabolism by acting as a ligand for hemojuvelin/HJV (PubMed:26582087). Also acts to promote expression of HAMP, potentially via the interaction with its receptor BMPR1A/ALK3 (PubMed:30097509, PubMed:31800957). Initiates the canonical BMP signaling cascade by associating with type I receptor ACVR1 and type II receptor ACVR2B (PubMed:18070108). In turn, ACVR1 propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target. Can also signal through non-canonical pathway such as TAZ-Hippo signaling cascade to modulate VEGF signaling by regulating VEGFR2 expression (PubMed:33021694)