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This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor 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. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, May 2020]
BMPR2 (Bone Morphogenetic Protein Receptor Type 2) is a Protein Coding gene. Diseases associated with BMPR2 include Pulmonary Hypertension, Primary, 1 and Pulmonary Venoocclusive Disease 1, Autosomal Dominant. Among its related pathways are Signaling by GPCR and Signaling by BMP. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is AMHR2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0004672 | protein kinase activity | IEA | -- |
GO:0004674 | protein serine/threonine kinase activity | IEA,IBA | 21873635 |
GO:0004675 | transmembrane receptor protein serine/threonine kinase activity | IEA | -- |
GO:0005024 | transforming growth factor beta-activated receptor activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | HDA | 22664934 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IDA | 12045205 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Akt Signaling |
Akt Signaling
.60
p38 Signaling
.60
|
Tec Kinases Signaling
.55
|
2 | Signaling by BMP |
.33
|
|
3 | PEDF Induced Signaling |
STAT3 Pathway
.47
|
|
4 | nNOS Signaling in Skeletal Muscle |
BMP Pathway
.44
|
TOB in Osteoblast Signaling
.01
|
5 | Human Embryonic Stem Cell Pluripotency |
Factors Promoting Cardiogenesis in Vertebrates
.50
|
Human Embryonic Stem Cell Pluripotency
.50
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001568 | blood vessel development | IBA | 21873635 |
GO:0001707 | mesoderm formation | ISS | -- |
GO:0001893 | maternal placenta development | IEA | -- |
GO:0001935 | endothelial cell proliferation | IMP | 25187962 |
GO:0001938 | positive regulation of endothelial cell proliferation | IMP | 17992660 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Dibotermin alfa | Approved, Investigational | Pharma | Target, ligand | 0 | ||
fostamatinib | Approved, Investigational | Pharma | Target, inhibitor | Kinase Inhibitors | 0 | |
Iron | Approved, Experimental | Pharma | 1560 | |||
Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
Manganese | Approved | Nutra | 56 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
Compound | Action | Cas Number |
---|---|---|
LDN-212854 | BMP receptor inhibitor,potent and selective | 1432597-26-6 |
ML347 | BMP receptor inhibitor,potent and selective | 1062368-49-3 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BMPR2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BMPRII 31 |
|
OneToOne | |
BMPR2 30 |
|
||||
Dog (Canis familiaris) |
Mammalia | BMPR2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bmpr2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bmpr2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | BMPR2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | BMPR2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BMPR-II 31 |
|
OneToOne | |
BMPR2 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | BMPR2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bmpr2 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | XBMPR-II 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | bmpr2b 30 31 |
|
OneToMany | |
bmpr2a 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | wit 31 32 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
648237 | Pathogenic: Primary pulmonary hypertension | 202,555,326(+) | ACT/A | FRAMESHIFT_VARIANT | |
650617 | Pathogenic: Primary pulmonary hypertension; not specified | 202,555,879(+) | GC/G | FRAMESHIFT_VARIANT | |
660183 | Pathogenic: Primary pulmonary hypertension | 202,552,835(+) | CA/C | FRAMESHIFT_VARIANT | |
676056 | Benign: not provided | 202,555,136(+) | A/G | INTRON_VARIANT | |
678684 | Benign: not provided | 202,465,227(+) | A/G | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
pulmonary hypertension, primary, 1 |
|
|
pulmonary venoocclusive disease 1, autosomal dominant |
|
|
pulmonary arterial hypertension associated with congenital heart disease |
|
|
idiopathic/heritable pulmonary arterial hypertension |
|
|
heritable pulmonary arterial hypertension |
|
|