UniProtKB - Q13873 (BMPR2_HUMAN)
Bone morphogenetic protein receptor type-2
BMPR2
Functioni
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 BMP7, BMP2 and, less efficiently, BMP4. Binding is weak but enhanced by the presence of type I receptors for BMPs. Mediates induction of adipogenesis by GDF6.
By similarityCatalytic activityi
Cofactori
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 230 | ATP1 Publication | 1 | |
Active sitei | 333 | Proton acceptorPROSITE-ProRule annotation | 1 | |
Binding sitei | 351 | ATP1 Publication | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 209 – 217 | ATP1 Publication | 9 | |
Nucleotide bindingi | 280 – 282 | ATP1 Publication | 3 | |
Nucleotide bindingi | 337 – 338 | ATP1 Publication | 2 |
GO - Molecular functioni
- activin receptor activity, type II Source: Reactome
- ATP binding Source: UniProtKB-KW
- BMP binding Source: UniProtKB
- BMP receptor activity Source: UniProtKB
- cadherin binding Source: ARUK-UCL
- metal ion binding Source: UniProtKB-KW
- phosphatase activator activity Source: Ensembl
- protein serine/threonine kinase activator activity Source: Ensembl
- protein serine/threonine kinase activity Source: GO_Central
- protein tyrosine kinase binding Source: ARUK-UCL
- signaling receptor activator activity Source: Ensembl
- transforming growth factor beta-activated receptor activity Source: GO_Central
GO - Biological processi
- anterior/posterior pattern specification Source: BHF-UCL
- aortic valve development Source: BHF-UCL
- artery development Source: BHF-UCL
- atrial septum morphogenesis Source: BHF-UCL
- blood vessel development Source: GO_Central
- blood vessel remodeling Source: BHF-UCL
- BMP signaling pathway Source: BHF-UCL
- cellular response to BMP stimulus Source: BHF-UCL
- cellular response to growth factor stimulus Source: GO_Central
- cellular response to starvation Source: BHF-UCL
- chondrocyte development Source: AgBase
- endocardial cushion development Source: BHF-UCL
- endochondral bone morphogenesis Source: AgBase
- endothelial cell apoptotic process Source: UniProtKB
- endothelial cell proliferation Source: UniProtKB
- limb development Source: Ensembl
- lung alveolus development Source: BHF-UCL
- lymphangiogenesis Source: BHF-UCL
- lymphatic endothelial cell differentiation Source: BHF-UCL
- maternal placenta development Source: Ensembl
- mesoderm formation Source: BHF-UCL
- mitral valve morphogenesis Source: BHF-UCL
- negative regulation of cell growth Source: UniProtKB
- negative regulation of cell proliferation involved in heart valve morphogenesis Source: BHF-UCL
- negative regulation of chondrocyte proliferation Source: AgBase
- negative regulation of DNA biosynthetic process Source: BHF-UCL
- negative regulation of muscle cell differentiation Source: Ensembl
- negative regulation of smooth muscle cell proliferation Source: BHF-UCL
- negative regulation of systemic arterial blood pressure Source: BHF-UCL
- negative regulation of vasoconstriction Source: BHF-UCL
- osteoblast differentiation Source: Ensembl
- outflow tract morphogenesis Source: BHF-UCL
- outflow tract septum morphogenesis Source: BHF-UCL
- pharyngeal arch artery morphogenesis Source: BHF-UCL
- positive regulation of axon extension involved in axon guidance Source: Ensembl
- positive regulation of BMP signaling pathway Source: UniProtKB
- positive regulation of bone mineralization Source: BHF-UCL
- positive regulation of cartilage development Source: AgBase
- positive regulation of endothelial cell migration Source: UniProtKB
- positive regulation of endothelial cell proliferation Source: UniProtKB
- positive regulation of epithelial cell migration Source: UniProtKB
- positive regulation of ossification Source: BHF-UCL
- positive regulation of osteoblast differentiation Source: BHF-UCL
- positive regulation of pathway-restricted SMAD protein phosphorylation Source: UniProtKB
- positive regulation of SMAD protein signal transduction Source: BHF-UCL
- positive regulation of transcription by RNA polymerase II Source: BHF-UCL
- protein phosphorylation Source: GO_Central
- proteoglycan biosynthetic process Source: AgBase
- pulmonary valve development Source: BHF-UCL
- regulation of cell population proliferation Source: HGNC-UCL
- regulation of lung blood pressure Source: BHF-UCL
- retina vasculature development in camera-type eye Source: BHF-UCL
- semi-lunar valve development Source: BHF-UCL
- transmembrane receptor protein serine/threonine kinase signaling pathway Source: BHF-UCL
- tricuspid valve morphogenesis Source: BHF-UCL
- venous blood vessel development Source: BHF-UCL
- ventricular septum morphogenesis Source: BHF-UCL
Keywordsi
Molecular function | Kinase, Receptor, Serine/threonine-protein kinase, Transferase |
Ligand | ATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q13873 |
Reactomei | R-HSA-201451, Signaling by BMP |
SignaLinki | Q13873 |
SIGNORi | Q13873 |
Names & Taxonomyi
Protein namesi | Recommended name: Bone morphogenetic protein receptor type-2 (EC:2.7.11.30)Short name: BMP type-2 receptor Short name: BMPR-2 Alternative name(s): Bone morphogenetic protein receptor type II Short name: BMP type II receptor Short name: BMPR-II |
Gene namesi | Name:BMPR2 Synonyms:PPH1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:1078, BMPR2 |
MIMi | 600799, gene |
neXtProti | NX_Q13873 |
VEuPathDBi | HostDB:ENSG00000204217 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Single-pass type I membrane protein
Extracellular region or secreted
- extracellular space Source: UniProtKB
Nucleus
- nucleoplasm Source: HPA
Plasma Membrane
- clathrin-coated pit Source: Ensembl
- integral component of plasma membrane Source: BHF-UCL
- plasma membrane Source: UniProtKB
- spanning component of plasma membrane Source: AgBase
Other locations
- adherens junction Source: BHF-UCL
- cell surface Source: Ensembl
- postsynaptic density Source: Ensembl
- receptor complex Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 27 – 150 | ExtracellularSequence analysisAdd BLAST | 124 | |
Transmembranei | 151 – 171 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 172 – 1038 | CytoplasmicSequence analysisAdd BLAST | 867 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Pulmonary hypertension, primary, 1 (PPH1)9 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_013670 | 60 | C → Y in PPH1. 1 PublicationCorresponds to variant dbSNP:rs1085307172EnsemblClinVar. | 1 | |
Natural variantiVAR_079588 | 64 | S → R in PPH1; unknown pathological significance; unchanged subcellular localization. 1 Publication | 1 | |
Natural variantiVAR_073041 | 67 | Y → C in PPH1; significant decrease in nitric oxide synthesis by endothelial cells. 1 PublicationCorresponds to variant dbSNP:rs1085307177EnsemblClinVar. | 1 | |
Natural variantiVAR_079589 | 77 | I → L in PPH1; unknown pathological significance; unchanged subcellular localization. 2 Publications | 1 | |
Natural variantiVAR_033109 | 82 | Q → H in PPH1. 1 PublicationCorresponds to variant dbSNP:rs1085307185EnsemblClinVar. | 1 | |
Natural variantiVAR_079590 | 84 | C → F in PPH1; alters alternative splicing of BMPR2. 2 PublicationsCorresponds to variant dbSNP:rs1085307197EnsemblClinVar. | 1 | |
Natural variantiVAR_079591 | 87 | H → Y in PPH1; unknown pathological significance; unchanged subcellular localization. 2 Publications | 1 | |
Natural variantiVAR_079592 | 92 | Q → L in PPH1; unknown pathological significance; unchanged subcellular localization. 2 Publications | 1 | |
Natural variantiVAR_079593 | 109 | Q → H in PPH1; unknown pathological significance; unchanged subcellular localization. 1 Publication | 1 | |
Natural variantiVAR_013671 | 117 | C → Y in PPH1. 1 PublicationCorresponds to variant dbSNP:rs1085307215EnsemblClinVar. | 1 | |
Natural variantiVAR_013672 | 118 | C → W in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852743EnsemblClinVar. | 1 | |
Natural variantiVAR_013673 | 123 | C → R in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852750EnsemblClinVar. | 1 | |
Natural variantiVAR_013674 | 123 | C → S in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852750EnsemblClinVar. | 1 | |
Natural variantiVAR_079594 | 138 | P → A in PPH1; unknown pathological significance; unchanged subcellular localization. 1 Publication | 1 | |
Natural variantiVAR_079595 | 162 | A → P in PPH1; unknown pathological significance; unchanged subcellular localization. 2 Publications | 1 | |
Natural variantiVAR_033110 | 182 | G → D in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852754EnsemblClinVar. | 1 | |
Natural variantiVAR_079596 | 218 – 1038 | Missing in PPH1; changed localization to the plasma membrane. 1 PublicationAdd BLAST | 821 | |
Natural variantiVAR_079597 | 248 | R → G in PPH1; unknown pathological significance; unchanged subcellular localization. 1 Publication | 1 | |
Natural variantiVAR_079598 | 264 | D → N in PPH1; unknown pathological significance; unchanged subcellular localization. 2 Publications | 1 | |
Natural variantiVAR_079599 | 298 – 1038 | Missing in PPH1; loss of localization to the plasma membrane; localized to the cytoplasm. 1 PublicationAdd BLAST | 741 | |
Natural variantiVAR_079600 | 341 | V → M in PPH1; unknown pathological significance; unchanged subcellular localization. 2 PublicationsCorresponds to variant dbSNP:rs767882551Ensembl. | 1 | |
Natural variantiVAR_013676 | 347 | C → Y in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852744EnsemblClinVar. | 1 | |
Natural variantiVAR_013677 | 420 | C → R in PPH1. 1 PublicationCorresponds to variant dbSNP:rs1085307324EnsemblClinVar. | 1 | |
Natural variantiVAR_079601 | 467 | K → R in PPH1; unknown pathological significance; unchanged subcellular localization. 1 Publication | 1 | |
Natural variantiVAR_013678 | 483 | C → R in PPH1; sporadic. 2 PublicationsCorresponds to variant dbSNP:rs1085307354EnsemblClinVar. | 1 | |
Natural variantiVAR_013679 | 485 | D → G in PPH1; complete loss of function. 2 PublicationsCorresponds to variant dbSNP:rs137852745EnsemblClinVar. | 1 | |
Natural variantiVAR_013680 | 491 | R → Q in PPH1; sporadic. 1 PublicationCorresponds to variant dbSNP:rs137852749EnsemblClinVar. | 1 | |
Natural variantiVAR_013681 | 491 | R → W in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852746EnsemblClinVar. | 1 | |
Natural variantiVAR_013682 | 512 | K → T in PPH1. 1 PublicationCorresponds to variant dbSNP:rs1085307364EnsemblClinVar. | 1 | |
Natural variantiVAR_013683 | 519 | N → K in PPH1. Corresponds to variant dbSNP:rs1085307365EnsemblClinVar. | 1 | |
Natural variantiVAR_073042 | 863 | S → N in PPH1; abnormal subcellular localization; significant increase in apoptosis of endothelial cells; significant decrease in proliferation of endothelial cells; significant decrease in nitric oxide synthesis by endothelial cells; significant increase in endothelin 1 synthesis by endothelial cells. 1 PublicationCorresponds to variant dbSNP:rs1006246556EnsemblClinVar. | 1 | |
Natural variantiVAR_033111 | 899 | R → P in PPH1; leads to constitutive activation of the MAPK14 pathway. 1 PublicationCorresponds to variant dbSNP:rs137852752EnsemblClinVar. | 1 |
Pulmonary venoocclusive disease 1, autosomal dominant (PVOD1)2 Publications
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 659 |
GeneReviewsi | BMPR2 |
MalaCardsi | BMPR2 |
MIMi | 178600, phenotype 265450, phenotype |
OpenTargetsi | ENSG00000204217 |
Orphaneti | 275786, Drug- or toxin-induced pulmonary arterial hypertension 275777, Heritable pulmonary arterial hypertension 31837, Pulmonary venoocclusive disease |
PharmGKBi | PA25388 |
Miscellaneous databases
Pharosi | Q13873, Tchem |
Chemistry databases
ChEMBLi | CHEMBL5467 |
DrugBanki | DB11639, Dibotermin alfa DB12010, Fostamatinib |
DrugCentrali | Q13873 |
GuidetoPHARMACOLOGYi | 1794 |
Genetic variation databases
BioMutai | BMPR2 |
DMDMi | 12643724 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 26 | Sequence analysisAdd BLAST | 26 | |
ChainiPRO_0000024415 | 27 – 1038 | Bone morphogenetic protein receptor type-2Add BLAST | 1012 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 34 ↔ 66 | Combined sources1 Publication | ||
Glycosylationi | 55 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 60 ↔ 84 | Combined sources1 Publication | ||
Disulfide bondi | 94 ↔ 117 | Combined sources1 Publication | ||
Disulfide bondi | 99 ↔ 116 | Combined sources1 Publication | ||
Glycosylationi | 110 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 118 ↔ 123 | Combined sources1 Publication | ||
Glycosylationi | 126 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 379 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 586 | PhosphoserineCombined sources | 1 | |
Modified residuei | 680 | PhosphoserineBy similarity | 1 | |
Modified residuei | 681 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
CPTACi | CPTAC-2209 |
EPDi | Q13873 |
jPOSTi | Q13873 |
MassIVEi | Q13873 |
MaxQBi | Q13873 |
PaxDbi | Q13873 |
PeptideAtlasi | Q13873 |
PRIDEi | Q13873 |
ProteomicsDBi | 59705 [Q13873-1] |
PTM databases
GlyConnecti | 1046, 2 N-Linked glycans (2 sites) |
GlyGeni | Q13873, 6 sites, 3 N-linked glycans (2 sites), 2 O-linked glycans (2 sites) |
iPTMneti | Q13873 |
PhosphoSitePlusi | Q13873 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000204217, Expressed in upper lobe of lung and 234 other tissues |
ExpressionAtlasi | Q13873, baseline and differential |
Genevisiblei | Q13873, HS |
Organism-specific databases
HPAi | ENSG00000204217, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Q13873
With | #Exp. | IntAct |
---|---|---|
GDF5 [P43026] | 4 | EBI-527196,EBI-8571476 |
PRKG1 [Q13976] | 2 | EBI-527196,EBI-3952014 |
C4bpa [P08607] from Mus musculus. | 3 | EBI-527196,EBI-527325 |
Prkcb [P68404] from Mus musculus. | 4 | EBI-527196,EBI-397048 |
GO - Molecular functioni
- BMP binding Source: UniProtKB
- cadherin binding Source: ARUK-UCL
- protein tyrosine kinase binding Source: ARUK-UCL
Protein-protein interaction databases
BioGRIDi | 107127, 81 interactors |
DIPi | DIP-5794N |
ELMi | Q13873 |
IntActi | Q13873, 51 interactors |
MINTi | Q13873 |
STRINGi | 9606.ENSP00000363708 |
Chemistry databases
BindingDBi | Q13873 |
Miscellaneous databases
RNActi | Q13873, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q13873 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q13873 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 203 – 504 | Protein kinasePROSITE-ProRule annotationAdd BLAST | 302 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 593 – 626 | DisorderedSequence analysisAdd BLAST | 34 | |
Regioni | 746 – 770 | DisorderedSequence analysisAdd BLAST | 25 | |
Regioni | 872 – 972 | DisorderedSequence analysisAdd BLAST | 101 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 746 – 768 | Polar residuesSequence analysisAdd BLAST | 23 | |
Compositional biasi | 872 – 897 | Basic and acidic residuesSequence analysisAdd BLAST | 26 | |
Compositional biasi | 898 – 918 | Polar residuesSequence analysisAdd BLAST | 21 | |
Compositional biasi | 937 – 964 | Polar residuesSequence analysisAdd BLAST | 28 |
Sequence similaritiesi
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3653, Eukaryota |
GeneTreei | ENSGT00940000156449 |
HOGENOMi | CLU_013015_0_0_1 |
InParanoidi | Q13873 |
OMAi | NIAHFIV |
OrthoDBi | 390511at2759 |
PhylomeDBi | Q13873 |
TreeFami | TF314724 |
Family and domain databases
Gene3Di | 2.10.60.10, 1 hit |
InterProi | View protein in InterPro IPR000472, Activin_recp IPR015770, BMPR2 IPR011009, Kinase-like_dom_sf IPR000719, Prot_kinase_dom IPR017441, Protein_kinase_ATP_BS IPR045860, Snake_toxin-like_sf IPR000333, TGFB_receptor |
PANTHERi | PTHR23255, PTHR23255, 1 hit PTHR23255:SF97, PTHR23255:SF97, 1 hit |
Pfami | View protein in Pfam PF01064, Activin_recp, 1 hit PF00069, Pkinase, 1 hit |
SUPFAMi | SSF56112, SSF56112, 1 hit SSF57302, SSF57302, 1 hit |
PROSITEi | View protein in PROSITE PS00107, PROTEIN_KINASE_ATP, 1 hit PS50011, PROTEIN_KINASE_DOM, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MTSSLQRPWR VPWLPWTILL VSTAAASQNQ ERLCAFKDPY QQDLGIGESR
60 70 80 90 100
ISHENGTILC SKGSTCYGLW EKSKGDINLV KQGCWSHIGD PQECHYEECV
110 120 130 140 150
VTTTPPSIQN GTYRFCCCST DLCNVNFTEN FPPPDTTPLS PPHSFNRDET
160 170 180 190 200
IIIALASVSV LAVLIVALCF GYRMLTGDRK QGLHSMNMME AAASEPSLDL
210 220 230 240 250
DNLKLLELIG RGRYGAVYKG SLDERPVAVK VFSFANRQNF INEKNIYRVP
260 270 280 290 300
LMEHDNIARF IVGDERVTAD GRMEYLLVME YYPNGSLCKY LSLHTSDWVS
310 320 330 340 350
SCRLAHSVTR GLAYLHTELP RGDHYKPAIS HRDLNSRNVL VKNDGTCVIS
360 370 380 390 400
DFGLSMRLTG NRLVRPGEED NAAISEVGTI RYMAPEVLEG AVNLRDCESA
410 420 430 440 450
LKQVDMYALG LIYWEIFMRC TDLFPGESVP EYQMAFQTEV GNHPTFEDMQ
460 470 480 490 500
VLVSREKQRP KFPEAWKENS LAVRSLKETI EDCWDQDAEA RLTAQCAEER
510 520 530 540 550
MAELMMIWER NKSVSPTVNP MSTAMQNERN LSHNRRVPKI GPYPDYSSSS
560 570 580 590 600
YIEDSIHHTD SIVKNISSEH SMSSTPLTIG EKNRNSINYE RQQAQARIPS
610 620 630 640 650
PETSVTSLST NTTTTNTTGL TPSTGMTTIS EMPYPDETNL HTTNVAQSIG
660 670 680 690 700
PTPVCLQLTE EDLETNKLDP KEVDKNLKES SDENLMEHSL KQFSGPDPLS
710 720 730 740 750
STSSSLLYPL IKLAVEATGQ QDFTQTANGQ ACLIPDVLPT QIYPLPKQQN
760 770 780 790 800
LPKRPTSLPL NTKNSTKEPR LKFGSKHKSN LKQVETGVAK MNTINAAEPH
810 820 830 840 850
VVTVTMNGVA GRNHSVNSHA ATTQYANGTV LSGQTTNIVT HRAQEMLQNQ
860 870 880 890 900
FIGEDTRLNI NSSPDEHEPL LRREQQAGHD EGVLDRLVDR RERPLEGGRT
910 920 930 940 950
NSNNNNSNPC SEQDVLAQGV PSTAADPGPS KPRRAQRPNS LDLSATNVLD
960 970 980 990 1000
GSSIQIGEST QDGKSGSGEK IKKRVKTPYS LKRWRPSTWV ISTESLDCEV
1010 1020 1030
NNNGSNRAVH SKSSTAVYLA EGGTATTMVS KDIGMNCL
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A1W2PPB5 | A0A1W2PPB5_HUMAN | Serine/threonine-protein kinase rec... | BMPR2 | 505 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 828 | G → R in CAA88759 (PubMed:7644468).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_013670 | 60 | C → Y in PPH1. 1 PublicationCorresponds to variant dbSNP:rs1085307172EnsemblClinVar. | 1 | |
Natural variantiVAR_079588 | 64 | S → R in PPH1; unknown pathological significance; unchanged subcellular localization. 1 Publication | 1 | |
Natural variantiVAR_073041 | 67 | Y → C in PPH1; significant decrease in nitric oxide synthesis by endothelial cells. 1 PublicationCorresponds to variant dbSNP:rs1085307177EnsemblClinVar. | 1 | |
Natural variantiVAR_079589 | 77 | I → L in PPH1; unknown pathological significance; unchanged subcellular localization. 2 Publications | 1 | |
Natural variantiVAR_033109 | 82 | Q → H in PPH1. 1 PublicationCorresponds to variant dbSNP:rs1085307185EnsemblClinVar. | 1 | |
Natural variantiVAR_079590 | 84 | C → F in PPH1; alters alternative splicing of BMPR2. 2 PublicationsCorresponds to variant dbSNP:rs1085307197EnsemblClinVar. | 1 | |
Natural variantiVAR_079591 | 87 | H → Y in PPH1; unknown pathological significance; unchanged subcellular localization. 2 Publications | 1 | |
Natural variantiVAR_079592 | 92 | Q → L in PPH1; unknown pathological significance; unchanged subcellular localization. 2 Publications | 1 | |
Natural variantiVAR_079593 | 109 | Q → H in PPH1; unknown pathological significance; unchanged subcellular localization. 1 Publication | 1 | |
Natural variantiVAR_013671 | 117 | C → Y in PPH1. 1 PublicationCorresponds to variant dbSNP:rs1085307215EnsemblClinVar. | 1 | |
Natural variantiVAR_013672 | 118 | C → W in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852743EnsemblClinVar. | 1 | |
Natural variantiVAR_013673 | 123 | C → R in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852750EnsemblClinVar. | 1 | |
Natural variantiVAR_013674 | 123 | C → S in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852750EnsemblClinVar. | 1 | |
Natural variantiVAR_079594 | 138 | P → A in PPH1; unknown pathological significance; unchanged subcellular localization. 1 Publication | 1 | |
Natural variantiVAR_079595 | 162 | A → P in PPH1; unknown pathological significance; unchanged subcellular localization. 2 Publications | 1 | |
Natural variantiVAR_033110 | 182 | G → D in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852754EnsemblClinVar. | 1 | |
Natural variantiVAR_079596 | 218 – 1038 | Missing in PPH1; changed localization to the plasma membrane. 1 PublicationAdd BLAST | 821 | |
Natural variantiVAR_013675 | 224 | E → D1 PublicationCorresponds to variant dbSNP:rs754343081Ensembl. | 1 | |
Natural variantiVAR_079597 | 248 | R → G in PPH1; unknown pathological significance; unchanged subcellular localization. 1 Publication | 1 | |
Natural variantiVAR_079598 | 264 | D → N in PPH1; unknown pathological significance; unchanged subcellular localization. 2 Publications | 1 | |
Natural variantiVAR_079599 | 298 – 1038 | Missing in PPH1; loss of localization to the plasma membrane; localized to the cytoplasm. 1 PublicationAdd BLAST | 741 | |
Natural variantiVAR_079600 | 341 | V → M in PPH1; unknown pathological significance; unchanged subcellular localization. 2 PublicationsCorresponds to variant dbSNP:rs767882551Ensembl. | 1 | |
Natural variantiVAR_013676 | 347 | C → Y in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852744EnsemblClinVar. | 1 | |
Natural variantiVAR_013677 | 420 | C → R in PPH1. 1 PublicationCorresponds to variant dbSNP:rs1085307324EnsemblClinVar. | 1 | |
Natural variantiVAR_079601 | 467 | K → R in PPH1; unknown pathological significance; unchanged subcellular localization. 1 Publication | 1 | |
Natural variantiVAR_013678 | 483 | C → R in PPH1; sporadic. 2 PublicationsCorresponds to variant dbSNP:rs1085307354EnsemblClinVar. | 1 | |
Natural variantiVAR_013679 | 485 | D → G in PPH1; complete loss of function. 2 PublicationsCorresponds to variant dbSNP:rs137852745EnsemblClinVar. | 1 | |
Natural variantiVAR_013680 | 491 | R → Q in PPH1; sporadic. 1 PublicationCorresponds to variant dbSNP:rs137852749EnsemblClinVar. | 1 | |
Natural variantiVAR_013681 | 491 | R → W in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852746EnsemblClinVar. | 1 | |
Natural variantiVAR_013682 | 512 | K → T in PPH1. 1 PublicationCorresponds to variant dbSNP:rs1085307364EnsemblClinVar. | 1 | |
Natural variantiVAR_013683 | 519 | N → K in PPH1. Corresponds to variant dbSNP:rs1085307365EnsemblClinVar. | 1 | |
Natural variantiVAR_019996 | 775 | S → N Unchanged subcellular localization. 3 PublicationsCorresponds to variant dbSNP:rs2228545EnsemblClinVar. | 1 | |
Natural variantiVAR_073042 | 863 | S → N in PPH1; abnormal subcellular localization; significant increase in apoptosis of endothelial cells; significant decrease in proliferation of endothelial cells; significant decrease in nitric oxide synthesis by endothelial cells; significant increase in endothelin 1 synthesis by endothelial cells. 1 PublicationCorresponds to variant dbSNP:rs1006246556EnsemblClinVar. | 1 | |
Natural variantiVAR_033111 | 899 | R → P in PPH1; leads to constitutive activation of the MAPK14 pathway. 1 PublicationCorresponds to variant dbSNP:rs137852752EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_054441 | 530 | N → R in isoform 2. 2 Publications | 1 | |
Alternative sequenceiVSP_054442 | 531 – 1038 | Missing in isoform 2. 2 PublicationsAdd BLAST | 508 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U25110 mRNA Translation: AAA86519.1 Z48923 mRNA Translation: CAA88759.1 D50516 mRNA Translation: BAA09094.1 U20165 mRNA Translation: AAC50105.1 AC009960 Genomic DNA Translation: AAX76517.1 AC073410 Genomic DNA Translation: AAX88941.1 AC064836 Genomic DNA Translation: AAY24146.1 CH471063 Genomic DNA Translation: EAW70309.1 BC052985 mRNA Translation: AAH52985.1 |
CCDSi | CCDS33361.1 [Q13873-1] |
PIRi | I38935 |
RefSeqi | NP_001195.2, NM_001204.6 [Q13873-1] |
Genome annotation databases
Ensembli | ENST00000374574; ENSP00000363702; ENSG00000204217 [Q13873-2] ENST00000374580; ENSP00000363708; ENSG00000204217 |
GeneIDi | 659 |
KEGGi | hsa:659 |
MANE-Selecti | ENST00000374580.10; ENSP00000363708.4; NM_001204.7; NP_001195.2 |
UCSCi | uc002uzf.5, human [Q13873-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U25110 mRNA Translation: AAA86519.1 Z48923 mRNA Translation: CAA88759.1 D50516 mRNA Translation: BAA09094.1 U20165 mRNA Translation: AAC50105.1 AC009960 Genomic DNA Translation: AAX76517.1 AC073410 Genomic DNA Translation: AAX88941.1 AC064836 Genomic DNA Translation: AAY24146.1 CH471063 Genomic DNA Translation: EAW70309.1 BC052985 mRNA Translation: AAH52985.1 |
CCDSi | CCDS33361.1 [Q13873-1] |
PIRi | I38935 |
RefSeqi | NP_001195.2, NM_001204.6 [Q13873-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2HLQ | X-ray | 1.45 | A | 33-131 | [»] | |
3G2F | X-ray | 2.35 | A/B | 189-517 | [»] | |
6UNP | X-ray | 2.30 | A/B | 188-529 | [»] | |
SMRi | Q13873 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 107127, 81 interactors |
DIPi | DIP-5794N |
ELMi | Q13873 |
IntActi | Q13873, 51 interactors |
MINTi | Q13873 |
STRINGi | 9606.ENSP00000363708 |
Chemistry databases
BindingDBi | Q13873 |
ChEMBLi | CHEMBL5467 |
DrugBanki | DB11639, Dibotermin alfa DB12010, Fostamatinib |
DrugCentrali | Q13873 |
GuidetoPHARMACOLOGYi | 1794 |
PTM databases
GlyConnecti | 1046, 2 N-Linked glycans (2 sites) |
GlyGeni | Q13873, 6 sites, 3 N-linked glycans (2 sites), 2 O-linked glycans (2 sites) |
iPTMneti | Q13873 |
PhosphoSitePlusi | Q13873 |
Genetic variation databases
BioMutai | BMPR2 |
DMDMi | 12643724 |
Proteomic databases
CPTACi | CPTAC-2209 |
EPDi | Q13873 |
jPOSTi | Q13873 |
MassIVEi | Q13873 |
MaxQBi | Q13873 |
PaxDbi | Q13873 |
PeptideAtlasi | Q13873 |
PRIDEi | Q13873 |
ProteomicsDBi | 59705 [Q13873-1] |
Protocols and materials databases
Antibodypediai | 19946, 531 antibodies from 37 providers |
DNASUi | 659 |
Genome annotation databases
Ensembli | ENST00000374574; ENSP00000363702; ENSG00000204217 [Q13873-2] ENST00000374580; ENSP00000363708; ENSG00000204217 |
GeneIDi | 659 |
KEGGi | hsa:659 |
MANE-Selecti | ENST00000374580.10; ENSP00000363708.4; NM_001204.7; NP_001195.2 |
UCSCi | uc002uzf.5, human [Q13873-1] |
Organism-specific databases
CTDi | 659 |
DisGeNETi | 659 |
GeneCardsi | BMPR2 |
GeneReviewsi | BMPR2 |
HGNCi | HGNC:1078, BMPR2 |
HPAi | ENSG00000204217, Low tissue specificity |
MalaCardsi | BMPR2 |
MIMi | 178600, phenotype 265450, phenotype 600799, gene |
neXtProti | NX_Q13873 |
OpenTargetsi | ENSG00000204217 |
Orphaneti | 275786, Drug- or toxin-induced pulmonary arterial hypertension 275777, Heritable pulmonary arterial hypertension 31837, Pulmonary venoocclusive disease |
PharmGKBi | PA25388 |
VEuPathDBi | HostDB:ENSG00000204217 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3653, Eukaryota |
GeneTreei | ENSGT00940000156449 |
HOGENOMi | CLU_013015_0_0_1 |
InParanoidi | Q13873 |
OMAi | NIAHFIV |
OrthoDBi | 390511at2759 |
PhylomeDBi | Q13873 |
TreeFami | TF314724 |
Enzyme and pathway databases
PathwayCommonsi | Q13873 |
Reactomei | R-HSA-201451, Signaling by BMP |
SignaLinki | Q13873 |
SIGNORi | Q13873 |
Miscellaneous databases
BioGRID-ORCSi | 659, 19 hits in 1083 CRISPR screens |
ChiTaRSi | BMPR2, human |
EvolutionaryTracei | Q13873 |
GeneWikii | BMPR2 |
GenomeRNAii | 659 |
Pharosi | Q13873, Tchem |
PROi | PR:Q13873 |
RNActi | Q13873, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000204217, Expressed in upper lobe of lung and 234 other tissues |
ExpressionAtlasi | Q13873, baseline and differential |
Genevisiblei | Q13873, HS |
Family and domain databases
Gene3Di | 2.10.60.10, 1 hit |
InterProi | View protein in InterPro IPR000472, Activin_recp IPR015770, BMPR2 IPR011009, Kinase-like_dom_sf IPR000719, Prot_kinase_dom IPR017441, Protein_kinase_ATP_BS IPR045860, Snake_toxin-like_sf IPR000333, TGFB_receptor |
PANTHERi | PTHR23255, PTHR23255, 1 hit PTHR23255:SF97, PTHR23255:SF97, 1 hit |
Pfami | View protein in Pfam PF01064, Activin_recp, 1 hit PF00069, Pkinase, 1 hit |
SUPFAMi | SSF56112, SSF56112, 1 hit SSF57302, SSF57302, 1 hit |
PROSITEi | View protein in PROSITE PS00107, PROTEIN_KINASE_ATP, 1 hit PS50011, PROTEIN_KINASE_DOM, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | BMPR2_HUMAN | |
Accessioni | Q13873Primary (citable) accession number: Q13873 Secondary accession number(s): Q13161 Q585T8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 1, 2000 |
Last sequence update: | December 1, 2000 | |
Last modified: | February 23, 2022 | |
This is version 226 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human and mouse protein kinases
Human and mouse protein kinases: classification and index - Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families