ID:BMPR2_HUMAN DESCRIPTION: RecName: Full=Bone morphogenetic protein receptor type-2; Short=BMP type-2 receptor; Short=BMPR-2; EC=2.7.11.30; AltName: Full=Bone morphogenetic protein receptor type II; Short=BMP type II receptor; Short=BMPR-II; Flags: Precursor; 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. CATALYTIC ACTIVITY: ATP + [receptor-protein] = ADP + [receptor- protein] phosphate. COFACTOR: Magnesium or manganese (By similarity). INTERACTION: P08607:C4bpa (xeno); NbExp=3; IntAct=EBI-527196, EBI-527325; P68404:Prkcb (xeno); NbExp=4; IntAct=EBI-527196, EBI-397048; SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. TISSUE SPECIFICITY: Highly expressed in heart and liver. DISEASE: Defects in BMPR2 are the cause of primary pulmonary hypertension (PPH1) [MIM:178600]. PPH1 is a rare autosomal dominant 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 PPH1 is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. DISEASE: Defects in BMPR2 are a cause of pulmonary venoocclusive disease (PVOD) [MIM:265450]. PVOD is a rare form of pulmonary hypertension in which the vascular changes originate in the small pulmonary veins and venules. The pathogenesis is unknown and any link with PPH1 has been speculative. The finding of PVOD associated with a BMPR2 mutation reveals a possible pathogenetic connection with PPH1. SIMILARITY: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. SIMILARITY: Contains 1 protein kinase domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BMPR2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q13873
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
KJ890775 - Synthetic construct Homo sapiens clone ccsbBroadEn_00169 BMPR2 gene, encodes complete protein. KJ905150 - Synthetic construct Homo sapiens clone ccsbBroadEn_14551 BMPR2 gene, encodes complete protein. LF383610 - JP 2014500723-A/191113: Polycomb-Associated Non-Coding RNAs. BC052985 - Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase), mRNA (cDNA clone MGC:60135 IMAGE:6149698), complete cds. AK292430 - Homo sapiens cDNA FLJ76945 complete cds, highly similar to Homo sapiens bone morphogenetic protein receptor, type II(serine/threonine kinase) (BMPR2), transcript variant 1, mRNA. D50516 - Homo sapiens mRNA for type II receptor for bone morphogenetic protein-4, complete cds. Z48923 - H.sapiens mRNA for BMPR-II. U25110 - Human bone morphogenic protein type II receptor mRNA, complete cds. U20165 - Human type II serine/threonine kinase receptor mRNA, complete cds. AB384840 - Synthetic construct DNA, clone: pF1KB3702, Homo sapiens BMPR2 gene for bone morphogenetic protein receptor type-2 precursor, complete cds, without stop codon, in Flexi system. MA619187 - JP 2018138019-A/191113: Polycomb-Associated Non-Coding RNAs. BC011622 - Homo sapiens cDNA clone IMAGE:4026085, **** WARNING: chimeric clone ****. BC018743 - Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase), mRNA (cDNA clone IMAGE:4876385), with apparent retained intron. BC041039 - Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase), mRNA (cDNA clone IMAGE:4873415), with apparent retained intron. MH191353 - UNVERIFIED: Homo sapiens cell line ThESC bone morphogenic protein type II receptor-like mRNA, complete sequence. LF205213 - JP 2014500723-A/12716: Polycomb-Associated Non-Coding RNAs. JC506674 - Sequence 42 from Patent EP2733220. JC737786 - Sequence 42 from Patent WO2014075939. JC506661 - Sequence 29 from Patent EP2733220. JC737773 - Sequence 29 from Patent WO2014075939. JC506688 - Sequence 56 from Patent EP2733220. JC737800 - Sequence 56 from Patent WO2014075939. JC506666 - Sequence 34 from Patent EP2733220. JC737778 - Sequence 34 from Patent WO2014075939. LF317800 - JP 2014500723-A/125303: Polycomb-Associated Non-Coding RNAs. JD484314 - Sequence 465338 from Patent EP1572962. JD316742 - Sequence 297766 from Patent EP1572962. LF317801 - JP 2014500723-A/125304: Polycomb-Associated Non-Coding RNAs. JD358662 - Sequence 339686 from Patent EP1572962. JD167717 - Sequence 148741 from Patent EP1572962. LF317802 - JP 2014500723-A/125305: Polycomb-Associated Non-Coding RNAs. JD516542 - Sequence 497566 from Patent EP1572962. JD467623 - Sequence 448647 from Patent EP1572962. JD326526 - Sequence 307550 from Patent EP1572962. JD245265 - Sequence 226289 from Patent EP1572962. JD358723 - Sequence 339747 from Patent EP1572962. JD563976 - Sequence 545000 from Patent EP1572962. JD192433 - Sequence 173457 from Patent EP1572962. LF317803 - JP 2014500723-A/125306: Polycomb-Associated Non-Coding RNAs. MA440790 - JP 2018138019-A/12716: Polycomb-Associated Non-Coding RNAs. MA553377 - JP 2018138019-A/125303: Polycomb-Associated Non-Coding RNAs. MA553378 - JP 2018138019-A/125304: Polycomb-Associated Non-Coding RNAs. MA553379 - JP 2018138019-A/125305: Polycomb-Associated Non-Coding RNAs. MA553380 - JP 2018138019-A/125306: Polycomb-Associated Non-Coding RNAs. LF317806 - JP 2014500723-A/125309: Polycomb-Associated Non-Coding RNAs. LF317807 - JP 2014500723-A/125310: Polycomb-Associated Non-Coding RNAs. LF317808 - JP 2014500723-A/125311: Polycomb-Associated Non-Coding RNAs. LF317810 - JP 2014500723-A/125313: Polycomb-Associated Non-Coding RNAs. LF317811 - JP 2014500723-A/125314: Polycomb-Associated Non-Coding RNAs. LF317812 - JP 2014500723-A/125315: Polycomb-Associated Non-Coding RNAs. LF317813 - JP 2014500723-A/125316: Polycomb-Associated Non-Coding RNAs. LF317814 - JP 2014500723-A/125317: Polycomb-Associated Non-Coding RNAs. LF317815 - JP 2014500723-A/125318: Polycomb-Associated Non-Coding RNAs. LF317817 - JP 2014500723-A/125320: Polycomb-Associated Non-Coding RNAs. LF317819 - JP 2014500723-A/125322: Polycomb-Associated Non-Coding RNAs. LF317820 - JP 2014500723-A/125323: Polycomb-Associated Non-Coding RNAs. LF317821 - JP 2014500723-A/125324: Polycomb-Associated Non-Coding RNAs. LF317822 - JP 2014500723-A/125325: Polycomb-Associated Non-Coding RNAs. LF317823 - JP 2014500723-A/125326: Polycomb-Associated Non-Coding RNAs. LF317824 - JP 2014500723-A/125327: Polycomb-Associated Non-Coding RNAs. LF317825 - JP 2014500723-A/125328: Polycomb-Associated Non-Coding RNAs. LF317826 - JP 2014500723-A/125329: Polycomb-Associated Non-Coding RNAs. LF317827 - JP 2014500723-A/125330: Polycomb-Associated Non-Coding RNAs. LF317828 - JP 2014500723-A/125331: Polycomb-Associated Non-Coding RNAs. MA553383 - JP 2018138019-A/125309: Polycomb-Associated Non-Coding RNAs. MA553384 - JP 2018138019-A/125310: Polycomb-Associated Non-Coding RNAs. MA553385 - JP 2018138019-A/125311: Polycomb-Associated Non-Coding RNAs. MA553387 - JP 2018138019-A/125313: Polycomb-Associated Non-Coding RNAs. MA553388 - JP 2018138019-A/125314: Polycomb-Associated Non-Coding RNAs. MA553389 - JP 2018138019-A/125315: Polycomb-Associated Non-Coding RNAs. MA553390 - JP 2018138019-A/125316: Polycomb-Associated Non-Coding RNAs. MA553391 - JP 2018138019-A/125317: Polycomb-Associated Non-Coding RNAs. MA553392 - JP 2018138019-A/125318: Polycomb-Associated Non-Coding RNAs. MA553394 - JP 2018138019-A/125320: Polycomb-Associated Non-Coding RNAs. MA553396 - JP 2018138019-A/125322: Polycomb-Associated Non-Coding RNAs. MA553397 - JP 2018138019-A/125323: Polycomb-Associated Non-Coding RNAs. MA553398 - JP 2018138019-A/125324: Polycomb-Associated Non-Coding RNAs. MA553399 - JP 2018138019-A/125325: Polycomb-Associated Non-Coding RNAs. MA553400 - JP 2018138019-A/125326: Polycomb-Associated Non-Coding RNAs. MA553401 - JP 2018138019-A/125327: Polycomb-Associated Non-Coding RNAs. MA553402 - JP 2018138019-A/125328: Polycomb-Associated Non-Coding RNAs. MA553403 - JP 2018138019-A/125329: Polycomb-Associated Non-Coding RNAs. MA553404 - JP 2018138019-A/125330: Polycomb-Associated Non-Coding RNAs. MA553405 - JP 2018138019-A/125331: Polycomb-Associated Non-Coding RNAs. JD483475 - Sequence 464499 from Patent EP1572962. JD113314 - Sequence 94338 from Patent EP1572962. JD186028 - Sequence 167052 from Patent EP1572962. JD241504 - Sequence 222528 from Patent EP1572962. BC032011 - Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase), mRNA (cDNA clone IMAGE:3924242). LF317829 - JP 2014500723-A/125332: Polycomb-Associated Non-Coding RNAs. CQ873865 - Sequence 284 from Patent WO2004076622. DD413702 - Regulation of Mammalian Cells. LF317830 - JP 2014500723-A/125333: Polycomb-Associated Non-Coding RNAs. AK023426 - Homo sapiens cDNA FLJ13364 fis, clone PLACE1000292. LF317831 - JP 2014500723-A/125334: Polycomb-Associated Non-Coding RNAs. JD430267 - Sequence 411291 from Patent EP1572962. JD430269 - Sequence 411293 from Patent EP1572962. JD430270 - Sequence 411294 from Patent EP1572962. JD557435 - Sequence 538459 from Patent EP1572962. JD557436 - Sequence 538460 from Patent EP1572962. AY277593 - Homo sapiens transformation-related protein 10 (TRG10) mRNA, complete cds. BC043650 - Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase), mRNA (cDNA clone IMAGE:5277612). LF317832 - JP 2014500723-A/125335: Polycomb-Associated Non-Coding RNAs. LF317833 - JP 2014500723-A/125336: Polycomb-Associated Non-Coding RNAs. AK123579 - Homo sapiens cDNA FLJ41585 fis, clone CTONG2020484. JD138274 - Sequence 119298 from Patent EP1572962. JD175866 - Sequence 156890 from Patent EP1572962. JD332286 - Sequence 313310 from Patent EP1572962. JD185388 - Sequence 166412 from Patent EP1572962. JD517753 - Sequence 498777 from Patent EP1572962. JD517754 - Sequence 498778 from Patent EP1572962. JD105973 - Sequence 86997 from Patent EP1572962. BC035097 - Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase), mRNA (cDNA clone IMAGE:5261941). LF317834 - JP 2014500723-A/125337: Polycomb-Associated Non-Coding RNAs. AK093832 - Homo sapiens cDNA FLJ36513 fis, clone TRACH2001523. LF317835 - JP 2014500723-A/125338: Polycomb-Associated Non-Coding RNAs. LF317836 - JP 2014500723-A/125339: Polycomb-Associated Non-Coding RNAs. LF317837 - JP 2014500723-A/125340: Polycomb-Associated Non-Coding RNAs. LF317838 - JP 2014500723-A/125341: Polycomb-Associated Non-Coding RNAs. MA553406 - JP 2018138019-A/125332: Polycomb-Associated Non-Coding RNAs. MA553407 - JP 2018138019-A/125333: Polycomb-Associated Non-Coding RNAs. MA553408 - JP 2018138019-A/125334: Polycomb-Associated Non-Coding RNAs. MA553409 - JP 2018138019-A/125335: Polycomb-Associated Non-Coding RNAs. MA553410 - JP 2018138019-A/125336: Polycomb-Associated Non-Coding RNAs. MA553411 - JP 2018138019-A/125337: Polycomb-Associated Non-Coding RNAs. MA553412 - JP 2018138019-A/125338: Polycomb-Associated Non-Coding RNAs. MA553413 - JP 2018138019-A/125339: Polycomb-Associated Non-Coding RNAs. MA553414 - JP 2018138019-A/125340: Polycomb-Associated Non-Coding RNAs. MA553415 - JP 2018138019-A/125341: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_alkPathway - ALK in cardiac myocytes
Reactome (by CSHL, EBI, and GO)
Protein Q13873 (Reactome details) participates in the following event(s):
R-HSA-202604 Formation of a heteromeric BMP receptor complex R-HSA-201475 I-Smad competes with R-Smad1/5/8 for type I receptor R-HSA-201648 An anchoring protein, Endofin, recruits R-Smad1/5/8 R-HSA-201821 I-Smad binds to type I receptor, preventing Smad1/5/8 from being activated R-HSA-201443 Type II receptor phosphorylates type I receptor R-HSA-201453 Phospho-R-Smad1/5/8 dissociates from the receptor complex R-HSA-201476 Activated type I receptor phosphorylates R-Smad1/5/8 directly R-HSA-201457 BMP2 binds to the receptor complex R-HSA-201451 Signaling by BMP R-HSA-9006936 Signaling by TGF-beta family members R-HSA-162582 Signal Transduction