InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BMPR2

Summary

InnateDB Protein

IDBP-78882.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BMPR2

Protein Name

bone morphogenetic protein receptor, type II (serine/threonine kinase)

Synonyms

BMPR-II; BMPR3; BMR2; BRK-3; POVD1; PPH1; T-ALK;

Species

Homo sapiens

Ensembl Protein

ENSP00000363708

InnateDB Gene

IDBG-78880 (BMPR2)

Protein Structure

UniProt Annotation

Function

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. Binds to BMP-7, BMP-2 and, less efficiently, BMP-4. Binding is weak but enhanced by the presence of type I receptors for BMPs.

Subcellular Localization

Membrane; Single-pass type I membrane protein.

Disease Associations

Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]: A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. {ECO:0000269PubMed:10903931, ECO:0000269PubMed:10973254, ECO:0000269PubMed:11015450, ECO:0000269PubMed:11115378, ECO:0000269PubMed:12358323, ECO:0000269PubMed:15965979}. Note=The disease is caused by mutations affecting the gene represented in this entry.Pulmonary venoocclusive disease 1, autosomal dominant (PVOD1) [MIM:265450]: A disease characterized by widespread fibrous obstruction and intimal thickening of septal veins and preseptal venules, a low diffusing capacity for carbon monoxide, occult alveolar hemorrhage, and nodular ground-glass opacities, septal lines and lymph node enlargement showed by high-resolution computed tomography of the chest. It is frequently associated with pulmonary capillary dilatation and proliferation, and is a rare and devastating cause of pulmonary hypertension. {ECO:0000269PubMed:12446270, ECO:0000269PubMed:16429395}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in heart and liver.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 71 experimentally validated interaction(s) in this database.
They are also associated with 18 interaction(s) predicted by orthology.

Experimentally validated
Total	71 [view]
Protein-Protein	71 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	18 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004672	protein kinase activity
GO:0004675	transmembrane receptor protein serine/threonine kinase activity
GO:0004702	receptor signaling protein serine/threonine kinase activity
GO:0004713	protein tyrosine kinase activity
GO:0005024	transforming growth factor beta-activated receptor activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016362	activin receptor activity, type II
GO:0016772	transferase activity, transferring phosphorus-containing groups
GO:0019838	growth factor binding
GO:0046872	metal ion binding

Biological Process

GO:0001707	mesoderm formation
GO:0001938	positive regulation of endothelial cell proliferation
GO:0001946	lymphangiogenesis
GO:0001974	blood vessel remodeling
GO:0002063	chondrocyte development
GO:0003085	negative regulation of systemic arterial blood pressure
GO:0006366	transcription from RNA polymerase II promoter
GO:0006468	protein phosphorylation
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway
GO:0007420	brain development
GO:0009267	cellular response to starvation
GO:0009952	anterior/posterior pattern specification
GO:0010595	positive regulation of endothelial cell migration
GO:0010634	positive regulation of epithelial cell migration
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0014916	regulation of lung blood pressure
GO:0023014	signal transduction by phosphorylation
GO:0030308	negative regulation of cell growth
GO:0030501	positive regulation of bone mineralization
GO:0030509	BMP signaling pathway
GO:0030513	positive regulation of BMP signaling pathway
GO:0032924	activin receptor signaling pathway
GO:0042127	regulation of cell proliferation
GO:0045669	positive regulation of osteoblast differentiation
GO:0045906	negative regulation of vasoconstriction
GO:0048010	vascular endothelial growth factor receptor signaling pathway
GO:0048286	lung alveolus development
GO:0048842	positive regulation of axon extension involved in axon guidance
GO:0060041	retina development in camera-type eye
GO:0060173	limb development
GO:0060836	lymphatic endothelial cell differentiation
GO:0060840	artery development
GO:0060841	venous blood vessel development
GO:0061298	retina vasculature development in camera-type eye
GO:1902731	negative regulation of chondrocyte proliferation
GO:2000279	negative regulation of DNA biosynthetic process

Cellular Component

GO:0005615	extracellular space
GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0005901	caveola
GO:0009925	basal plasma membrane
GO:0009986	cell surface
GO:0016020	membrane
GO:0016324	apical plasma membrane
GO:0030425	dendrite
GO:0043025	neuronal cell body
GO:0044214	fully spanning plasma membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000472 TGF-beta receptor/activin receptor, type I/II
IPR000719 Protein kinase domain
IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain
IPR011009 Protein kinase-like domain
IPR020635 Tyrosine-protein kinase, catalytic domain

PFAM

PF01064
PF00069
PF07714

PRINTS

PR00109

PIRSF

SMART

SM00220
SM00219

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt