BMPR2
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| bone morphogenetic protein receptor type 2 | MIM:600799 | Ensembl:ENSG00000204217 | HGNC:HGNC:1078 | PA25388 | 2q33.1-q33.2 |
GO terms in BMPR2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IBA | GO:0001568 | blood vessel development |
| BP | ISS | GO:0001707 | mesoderm formation |
| BP | IEA | GO:0001893 | maternal placenta development |
| BP | IMP | GO:0001935 | endothelial cell proliferation |
| BP | IMP | GO:0001938 | positive regulation of endothelial cell proliferation |
| BP | IBA | GO:0001944 | vasculature development |
| BP | ISS | GO:0001946 | lymphangiogenesis |
| BP | ISS | GO:0001974 | blood vessel remodeling |
| BP | IMP | GO:0002063 | chondrocyte development |
| BP | IMP | GO:0003085 | negative regulation of systemic arterial blood pressure |
| BP | ISS | GO:0003148 | outflow tract septum morphogenesis |
| BP | ISS | GO:0003148 | outflow tract septum morphogenesis |
| BP | ISS | GO:0003151 | outflow tract morphogenesis |
| BP | ISS | GO:0003181 | atrioventricular valve morphogenesis |
| BP | ISS | GO:0003183 | mitral valve morphogenesis |
| BP | ISS | GO:0003186 | tricuspid valve morphogenesis |
| BP | ISS | GO:0003197 | endocardial cushion development |
| BP | ISS | GO:0003252 | negative regulation of cell proliferation involved in heart valve morphogenesis |
| BP | IMP | GO:0006366 | transcription by RNA polymerase II |
| BP | IEA | GO:0006468 | protein phosphorylation |
| BP | IDA | GO:0007178 | transmembrane receptor protein serine/threonine kinase signaling pathway |
| BP | IBA | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | IBA | GO:0007389 | pattern specification process |
| BP | IEA | GO:0007420 | brain development |
| BP | IEP | GO:0009267 | cellular response to starvation |
| BP | ISS | GO:0009952 | anterior/posterior pattern specification |
| BP | IMP | GO:0010595 | positive regulation of endothelial cell migration |
| BP | IDA | GO:0010634 | positive regulation of epithelial cell migration |
| BP | IMP | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation |
| BP | IMP | GO:0014916 | regulation of lung blood pressure |
| BP | ISS | GO:0014916 | regulation of lung blood pressure |
| BP | ISS | GO:0030166 | proteoglycan biosynthetic process |
| BP | IDA | GO:0030308 | negative regulation of cell growth |
| BP | IMP | GO:0030501 | positive regulation of bone mineralization |
| BP | IDA | GO:0030509 | BMP signaling pathway |
| BP | IMP | GO:0030509 | BMP signaling pathway |
| BP | ISS | GO:0030509 | BMP signaling pathway |
| BP | TAS | GO:0030509 | BMP signaling pathway |
| BP | IMP | GO:0030513 | positive regulation of BMP signaling pathway |
| BP | IEA | GO:0032924 | activin receptor signaling pathway |
| BP | IMP | GO:0042127 | regulation of cell proliferation |
| BP | IMP | GO:0045669 | positive regulation of osteoblast differentiation |
| BP | ISS | GO:0045778 | positive regulation of ossification |
| BP | ISS | GO:0045906 | negative regulation of vasoconstriction |
| BP | IMP | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | ISS | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | ISS | GO:0048010 | vascular endothelial growth factor receptor signaling pathway |
| BP | ISS | GO:0048286 | lung alveolus development |
| BP | ISS | GO:0048738 | cardiac muscle tissue development |
| BP | IEA | GO:0048842 | positive regulation of axon extension involved in axon guidance |
| BP | IEA | GO:0060173 | limb development |
| BP | ISS | GO:0060350 | endochondral bone morphogenesis |
| BP | ISS | GO:0060412 | ventricular septum morphogenesis |
| BP | ISS | GO:0060413 | atrial septum morphogenesis |
| BP | ISS | GO:0060836 | lymphatic endothelial cell differentiation |
| BP | ISS | GO:0060840 | artery development |
| BP | ISS | GO:0060841 | venous blood vessel development |
| BP | ISS | GO:0061036 | positive regulation of cartilage development |
| BP | ISS | GO:0061298 | retina vasculature development in camera-type eye |
| BP | ISS | GO:0061626 | pharyngeal arch artery morphogenesis |
| BP | ISS | GO:0061626 | pharyngeal arch artery morphogenesis |
| BP | IMP | GO:0071773 | cellular response to BMP stimulus |
| BP | IMP | GO:0072577 | endothelial cell apoptotic process |
| BP | IMP | GO:1902731 | negative regulation of chondrocyte proliferation |
| BP | ISS | GO:1905314 | semi-lunar valve development |
| BP | IMP | GO:2000279 | negative regulation of DNA biosynthetic process |
| CC | HDA | GO:0005615 | extracellular space |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0005887 | integral component of plasma membrane |
| CC | IDA | GO:0005887 | integral component of plasma membrane |
| CC | IMP | GO:0005901 | caveola |
| CC | IDA | GO:0005913 | cell-cell adherens junction |
| CC | IEA | GO:0009925 | basal plasma membrane |
| CC | IEA | GO:0009986 | cell surface |
| CC | IEA | GO:0014069 | postsynaptic density |
| CC | IEA | GO:0016324 | apical plasma membrane |
| CC | IEA | GO:0030425 | dendrite |
| CC | IEA | GO:0043025 | neuronal cell body |
| CC | IBA | GO:0043235 | receptor complex |
| CC | TAS | GO:0044214 | spanning component of plasma membrane |
| MF | IBA | GO:0005024 | transforming growth factor beta-activated receptor activity |
| MF | IBA | GO:0005026 | transforming growth factor beta receptor activity, type II |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | TAS | GO:0016362 | activin receptor activity, type II |
| MF | IBA | GO:0019838 | growth factor binding |
| MF | IEA | GO:0019838 | growth factor binding |
| MF | IPI | GO:0036122 | BMP binding |
| MF | IBA | GO:0046332 | SMAD binding |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IBA | GO:0098821 | BMP receptor activity |
| MF | ISS | GO:0098821 | BMP receptor activity |
Gene expression in normal tissue: BMPR2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in BMPR2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04060 | Cytokine-cytokine receptor interaction - Homo sapiens (human) |
| kegg | hsa04350 | TGF-beta signaling pathway - Homo sapiens (human) |
| kegg | hsa04360 | Axon guidance - Homo sapiens (human) |
| kegg | hsa04390 | Hippo signaling pathway - Homo sapiens (human) |
| kegg | hsa04550 | Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human) |
| kegg | hsa05206 | MicroRNAs in cancer - Homo sapiens (human) |
| kegg | hsa05418 | Fluid shear stress and atherosclerosis - Homo sapiens (human) |
| pid | alk1pathway | ALK1 signaling events |
| pid | alk2pathway | ALK2 signaling events |
| pid | bmppathway | BMP receptor signaling |
| humancyc | PWY66-11 | BMP Signalling Pathway |
| wikipathways | WP1425 | Bone Morphogenic Protein (BMP) Signalling and Regulation |
| wikipathways | WP1591 | Heart Development |
| wikipathways | WP2857 | Mesodermal Commitment Pathway |
| wikipathways | WP3874 | Canonical and Non-Canonical TGF-B signaling |
| wikipathways | WP3931 | ESC Pluripotency Pathways |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-201451 | Signaling by BMP |
| reactome | R-HSA-9006936 | Signaling by TGF-beta family members |
| biocarta | alkpathway | alk in cardiac myocytes |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD466 | Chaetocin | 2 |
| iGMDRD679 | Bistramide A | 3 |
| iGMDRD375 | GW-405833 | 2 |
| iGMDRD945 | ML214 | 4 |
| iGMDRD797 | ISOX DUAL | 2 |
| iGMDRD201 | SKI II | 2 |
| iGMDRD57 | Chloropentafluorobenzene | 2 |
| iGMDRD314 | Tanespimycin | 1 |
| iGMDRD61 | Kinetin riboside | 1 |
| iGMDRD494 | Neopeltolide | 2 |
| iGMDRD276 | AS 605240 | 1 |
| iGMDRD462 | OSI-906 (Linsitinib) | 1 |
| iGMDRD79 | Gemcitabine | 3 |
| iGMDRD126 | Tipifarnib | 2 |
| iGMDRD772 | BRD4770 | 2 |
| iGMDRD640 | CAY10618 | 3 |
| iGMDRD353 | PD0325901 | 1 |
| iGMDRD356 | PNU-74654 | 3 |
| iGMDRD322 | FK 866 | 5 |
| iGMDRD188 | Piperlongumine | 4 |
| iGMDRD100 | Zebularine | 2 |
| iGMDRD887 | Compound 23 citrate | 2 |
| iGMDRD662 | JQ-1 | 3 |
| iGMDRD269 | Purmorphamine | 2 |
| iGMDRD398 | Sepantronium | 2 |
| iGMDRD289 | Parthenolide | 2 |
| iGMDRD171 | Pemetrexed | 3 |
| iGMDRD187 | BRD9876 | 4 |
| iGMDRD298 | L-685458 | 2 |
| iGMDRD121 | GMX1778 | 4 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in BMPR2
CLASSFICATION
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