BMPR2

Chr 2q33.1-q33.2

bone morphogenetic protein receptor type 2

Aliases:: BRK-3, T-ALK, BMPR3, BMPR-II
MANE:: ENST00000374580.10

OMIM: 600799 ↗NCBI: 659 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

BMPR2 · Q13873

v62025-08-01

Predicted Aligned Error matrix for BMPR2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

57.4/ 100

Low

1,038 residues

Confidence breakdown

Very high(≥ 90)26%
Confident(70–90)12%
Low(50–70)5%
Very low(< 50)57%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood interstitial lung disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary arterial hypertension
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary haemorrhagic telangiectasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Extreme early-onset hypertension
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial pulmonary fibrosis

Disease associations (Open Targets)

pulmonary hypertension, primary, 1
0.82
pulmonary arterial hypertension
0.75
pulmonary venoocclusive disease
0.74
pulmonary venoocclusive disease 1
0.70
idiopathic pulmonary arterial hypertension
0.68
heritable pulmonary arterial hypertension
0.56
Pulmonary arterial hypertension associated with congenital heart disease
0.51
bone disorder
0.46
genetic non-acquired premature ovarian failure
0.45
spondylolisthesis
0.39

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

Protein function (UniProt)

Bone morphogenetic protein receptor type-2

On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Can also mediate signaling through the activation of the p38MAPK cascade (PubMed:12045205). Binds to BMP7, BMP2 and, less efficiently, BMP4. Binding is weak but enhanced by the presence of type I receptors for BMPs. Mediates induction of adipogenesis by GDF6. Promotes signaling also by binding to activin A/INHBA (PubMed:24018044)