BMPR2 - bone morphogenetic protein receptor type 2 Gene
Also Known as BMR2; PPH1; BMPR3; BRK-3; POVD1; T-ALK; BMPR-II
Species: Homo sapiens
About BMPR2
This gene has 3 transcripts (splice variants), 265 orthologues, 11 paralogues and is associated with 5 phenotypes. Ubiquitous expression in lung (RPKM 16.2), brain (RPKM 15.1) and 24 other tissues.
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 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 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| XM_011511687.2 | XP_011509989.1 | bone morphogenetic protein receptor type-2 isoform X1 |
| NM_001204.7 | NP_001195.2 | bone morphogenetic protein receptor type-2 precursor |
| NM_033346.2 |
| Molecular Function GO Annotation | Evidence | Referencias | Source |
|---|---|---|---|
| enables BMP binding |
IPI
IPI: Inferred from physical interaction
|
21976273 | GOA |
| enables activin receptor activity, type II |
IDA
IDA: Inferred from direct assay
|
19366699 | GOA |
| enables cadherin binding |
IPI
IPI: Inferred from physical interaction
|
26598555 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12045205 | GOA |
| enables protein tyrosine kinase binding |
IPI
IPI: Inferred from physical interaction
|
26598555 | GOA |
| Cellular Component GO Annotation | Evidence | Referencias | Source |
|---|---|---|---|
| located in adherens junction |
IDA
IDA: Inferred from direct assay
|
25468996 | GOA |
| colocalizes with caveola |
IMP
IMP: Inferred from mutant phenotype
|
15657086 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
12045205 | GOA |
BMPR2 Protein Structure
Activin_recp: Activin types I and II receptor domain (58 - 129)
Pkinase: Protein kinase domain (204 - 497)
- 0
- 200
- 400
- 600
- 800
- 1038 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
bone morphogenetic protein receptor type-2 |
|
|
BMPR2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Referencias |
|---|---|---|---|---|---|---|---|
|
Intra
|
BMPR2 | Q13873 | YWHAE | Homo sapiens | P62258 | 36931259 | |
|
Cross
|
BMPR2 | Q13873 | Prkcb | Mus musculus | P68404 | 15188402 | |
|
Cross
|
BMPR2 | Q13873 | C4bpa | Mus musculus | P08607 | 15188402 | |
|
Intra
|
BMPR2 | Q13873 | GDF5 | Homo sapiens | P43026 | 19229295 |
Recombinant BMPR2 Proteins
| Referencia número | Nombre del producto | Accession | Pureza |
|---|---|---|---|
| HY-P7669 | BMPR-II Protein, Human (HEK293, His) | Q13873-1 (S27-I151) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P72855 | BMPR-II Protein, Human (HEK293, His-Fc) | Q13873-1 (S27-I151) | ≥ 90%, as determined by reducing SDS-PAGE. |
BMPR2 Antibodies
| Referencia número | Nombre del producto | Aplicación | Reactivity |
|---|---|---|---|
| HY-P84557 | BMPR2 Antibody (YA4254) | WB, IHC-P, ICC/IF, ELISA | Human, Mouse, Rat, Rabbit, Monkey |
| HY-P84557A | BMPR2 Antibody (YA4254)(PBS only) | WB, IHC-P, ICC/IF, ELISA | Human, Mouse, Rat, Rabbit, Monkey |
| HY-P85062 | BMPR2 Antibody (YA4754) | WB, IHC-P, ICC/IF, ELISA | Human, Mouse, Rat, Monkey |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
|
| Submucous Uterine Fibroid |
|
|
| Heart Disease |
|
|
| Colon Adenocarcinoma |
|
|
| Atrial Heart Septal Defect |
|
|
| Pulmonary Venoocclusive Disease |
|
|
| Hepatic Vascular Disease |
|
|
| Arteriovenous Malformation |
|
|
| Mixed Connective Tissue Disease |
|
|
| Pulmonary Hypertension |
|
|
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
|
| Pulmonary Valve Insufficiency |
|
|
| Interstitial Lung Disease 2 |
|
|
| Drug- Or Toxin-Induced Pulmonary Arterial Hypertension |
|
|
| Patent Foramen Ovale |
|
|
| Hepatopulmonary Syndrome |
|
|
| Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
|
| Tricuspid Valve Disease |
|
|
| Breast Cancer |
|
|
| Brachydactyly, Type A2 |
|
|
| Tricuspid Valve Insufficiency |
|
|
| Genetic Non-Acquired Premature Ovarian Failure |
|
|
| Fibrodysplasia Ossificans Progressiva |
|
|
| Portal Hypertension |
|
|
| Pulmonary Arterial Hypertension Associated With Congenital Heart Disease |
|
|
| Glycogen Storage Disease |
|
|
| Connective Tissue Disease |
|
|
| Diaphragmatic Hernia, Congenital |
|
|
| Patent Ductus Arteriosus 1 |
|
|
| Fragile X Syndrome |
|
|
| Vascular Disease |
|
|
| Juvenile Polyposis Syndrome |
|
|
| Multiple Synostoses Syndrome |
|
|
| Aortic Valve Prolapse |
|
|
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
|
| Hereditary Hemorrhagic Telangiectasia |
|
|
| Hypertension, Essential |
|
|
| Heritable Pulmonary Arterial Hypertension |
|
|
| Pulmonary Hypertension, Primary, 1 |
|
|
| Telangiectasis |
|
|
| Chronic Pulmonary Heart Disease |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | BMPR2 | VGNC | VGNC:70268 |
| Rattus norvegicus | BMPR2 | RGD | RGD:71082 |
| Bos taurus | BMPR2 | VGNC | VGNC:26526 |
| Canis familiaris | BMPR2 | VGNC | VGNC:38486 |
| Mus musculus | BMPR2 | MGD | MGI:1095407 |
| Felis catus | BMPR2 | VGNC | VGNC:60139 |
| Others | BMPR2 | NCBI |