Homo sapiens Gene: BMPR2
Summary
InnateDB Gene IDBG-78880.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BMPR2
Gene 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 Gene ENSG00000204217
Encoded Proteins
bone morphogenetic protein receptor, type II (serine/threonine kinase)
bone morphogenetic protein receptor, type II (serine/threonine kinase)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:202376936-202567751
Strand Forward strand
Band q33.1
Transcripts
ENST00000374580 ENSP00000363708
ENST00000374574 ENSP00000363702
ENST00000479069
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Signal Transduction pathway
Signaling by BMP pathway
KEGG
Cytokine-cytokine receptor interaction pathway
TGF-beta signaling pathway pathway
INOH
TGF-beta signaling pathway
BMP2 signaling pathway
IL-7 signaling pathway
JAK STAT pathway and regulation pathway
EPO signaling pathway pathway
VEGF signaling pathway pathway
PID BIOCARTA
Alk in cardiac myocytes [Biocarta view]
PID NCI
ALK2 signaling events
BMP receptor signaling
ALK1 signaling events
Cross-References
SwissProt Q13873
TrEMBL
UniProt Splice Variant
Entrez Gene 659
UniGene Hs.471119 Hs.732526
RefSeq NM_001204
HUGO HGNC:1078
OMIM 600799
CCDS CCDS33361
HPRD
IMGT
EMBL AC009960 AC064836 AC073410 BC052985 CH471063 D50516 U20165 U25110 Z48923
GenPept AAA86519 AAC50105 AAH52985 AAX76517 AAX88941 AAY24146 BAA09094 CAA88759 EAW70309
RNA Seq Atlas 659