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 similarity

Catalytic activityⁱ

ATP + [receptor-protein] = ADP + [receptor-protein] phosphate.

Cofactorⁱ

Mg²⁺By similarity, Mn²⁺By similarity

Sites

Feature key	Position(s)	DescriptionActions	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	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
Inferred from physical interactionⁱ
- 21976273
BMP receptor activity Source: UniProtKB
growth factor binding Source: Ensembl
metal ion binding Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

anterior/posterior pattern specification Source: BHF-UCL
artery development Source: BHF-UCL
atrial septum morphogenesis Source: BHF-UCL
blood vessel remodeling Source: BHF-UCL
BMP signaling pathway
Source: BHF-UCL
Inferred from direct assayⁱ
- 18436533
brain development Source: Ensembl
cellular response to BMP stimulus
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 18326817
cellular response to starvation
Source: BHF-UCL
Inferred from expression patternⁱ
- 15657086
chondrocyte development
Source: AgBase
Inferred from mutant phenotypeⁱ
- 9442116
endocardial cushion development Source: BHF-UCL
endochondral bone morphogenesis Source: AgBase
endothelial cell apoptotic process
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 25187962
endothelial cell proliferation
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 25187962
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
Inferred from direct assayⁱ
- 12819188
negative regulation of cell proliferation involved in heart valve morphogenesis Source: BHF-UCL
negative regulation of chondrocyte proliferation
Source: AgBase
Inferred from mutant phenotypeⁱ
- 9442116
negative regulation of DNA biosynthetic process
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 19366699
negative regulation of systemic arterial blood pressure
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 18364108
negative regulation of vasoconstriction Source: BHF-UCL
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
Inferred from mutant phenotypeⁱ
- 17992660
positive regulation of bone mineralization
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 18436533
positive regulation of cartilage development Source: AgBase
positive regulation of endothelial cell migration
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 17992660
positive regulation of endothelial cell proliferation
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 17992660
positive regulation of epithelial cell migration
Source: UniProtKB
Inferred from direct assayⁱ
- 12819188
positive regulation of ossification Source: BHF-UCL
positive regulation of osteoblast differentiation
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 18436533
positive regulation of pathway-restricted SMAD protein phosphorylation
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 17992660
positive regulation of transcription by RNA polymerase II
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 18326817
proteoglycan biosynthetic process Source: AgBase
regulation of cell proliferation
Source: HGNC
Inferred from mutant phenotypeⁱ
- 11502704
regulation of lung blood pressure
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 18364108
retina vasculature development in camera-type eye Source: BHF-UCL
semi-lunar valve development Source: BHF-UCL
transcription by RNA polymerase II
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 12045205
transmembrane receptor protein serine/threonine kinase signaling pathway
Source: BHF-UCL
Inferred from direct assayⁱ
- 12045205
tricuspid valve morphogenesis Source: BHF-UCL
venous blood vessel development Source: BHF-UCL
ventricular septum morphogenesis Source: BHF-UCL

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Kinase, Receptor, Serine/threonine-protein kinase, Transferase
Ligand	ATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

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	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 2

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000204217.12
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:1078 BMPR2
MIMⁱ	600799 gene
neXtProtⁱ	NX_Q13873

Topology

Feature key	Position(s)	DescriptionActions	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, Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Pulmonary hypertension, primary, 1 (PPH1)9 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA rare 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 pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs.

Pulmonary venoocclusive disease 1, autosomal dominant (PVOD1)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disease characterized by widespread fibrous obstruction and intimal thickening of septal veins and preseptal venules, a low diffusing capacity for carbon monoxide, occult alveolar hemorrhage, and nodular ground-glass opacities, septal lines and lymph node enlargement showed by high-resolution computed tomography of the chest. It is frequently associated with pulmonary capillary dilatation and proliferation, and is a rare and devastating cause of pulmonary hypertension.

Keywords - Diseaseⁱ

Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	659
GeneReviewsⁱ	BMPR2
MalaCards human disease database More...MalaCardsⁱ	BMPR2
MIMⁱ	178600 phenotype 265450 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000204217
Orphanetⁱ	275777 Heritable pulmonary arterial hypertension 275766 Idiopathic pulmonary arterial hypertension 31837 Pulmonary venoocclusive disease
PharmGKBⁱ	PA25388

Chemistry databases

ChEMBLⁱ	CHEMBL5467
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYⁱ	1794

Polymorphism and mutation 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	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, Phosphoprotein

Proteomic databases

EPDⁱ	Q13873
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q13873
PaxDbⁱ	Q13873
PeptideAtlas More...PeptideAtlasⁱ	Q13873
PRIDEⁱ	Q13873
ProteomicsDBⁱ	59705

PTM databases

GlyConnectⁱ	1046
iPTMnetⁱ	Q13873
PhosphoSitePlusⁱ	Q13873

Expressionⁱ

Tissue specificityⁱ

Highly expressed in heart and liver.

Gene expression databases

Bgeeⁱ	ENSG00000204217 Expressed in 220 organ(s), highest expression level in upper lobe of lung
CleanExⁱ	HS_BMPR2
ExpressionAtlasⁱ	Q13873 baseline and differential
Genevisibleⁱ	Q13873 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA017385 HPA049014

HPAⁱ

HPA017385
HPA049014

Interactionⁱ

Subunit structureⁱ

Interacts with GDF5.1 Publication

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
C4bpa	P08607	3	EBI-527196,EBI-527325	From Mus musculus.
GDF5	P43026	4	EBI-527196,EBI-8571476
Prkcb	P68404	4	EBI-527196,EBI-397048	From Mus musculus.
PRKG1	Q13976	2	EBI-527196,EBI-3952014

GO - Molecular functionⁱ

BMP binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 21976273
growth factor binding Source: Ensembl

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	107127, 58 interactors
Database of interacting proteins More...DIPⁱ	DIP-5794N
ELMⁱ	Q13873
IntActⁱ	Q13873, 37 interactors
Molecular INTeraction database More...MINTⁱ	Q13873
STRINGⁱ	9606.ENSP00000363708

Chemistry databases

BindingDBⁱ

Q13873

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	33 – 35	Combined sources	3
Turnⁱ	42 – 47	Combined sources	6
Helixⁱ	48 – 50	Combined sources	3
Turnⁱ	53 – 56	Combined sources	4
Beta strandⁱ	57 – 59	Combined sources	3
Beta strandⁱ	66 – 73	Combined sources	8
Beta strandⁱ	76 – 84	Combined sources	9
Beta strandⁱ	90 – 92	Combined sources	3
Turnⁱ	105 – 109	Combined sources	5
Beta strandⁱ	113 – 118	Combined sources	6
Helixⁱ	123 – 125	Combined sources	3
Beta strandⁱ	202 – 211	Combined sources	10
Beta strandⁱ	213 – 222	Combined sources	10
Beta strandⁱ	225 – 233	Combined sources	9
Helixⁱ	234 – 236	Combined sources	3
Helixⁱ	237 – 247	Combined sources	11
Beta strandⁱ	260 – 267	Combined sources	8
Beta strandⁱ	273 – 279	Combined sources	7
Helixⁱ	287 – 293	Combined sources	7
Helixⁱ	298 – 316	Combined sources	19
Helixⁱ	322 – 324	Combined sources	3
Beta strandⁱ	338 – 341	Combined sources	4
Beta strandⁱ	347 – 349	Combined sources	3
Beta strandⁱ	359 – 362	Combined sources	4
Helixⁱ	380 – 382	Combined sources	3
Helixⁱ	385 – 388	Combined sources	4
Helixⁱ	394 – 396	Combined sources	3
Helixⁱ	397 – 417	Combined sources	21
Helixⁱ	421 – 423	Combined sources	3
Helixⁱ	437 – 440	Combined sources	4
Helixⁱ	446 – 453	Combined sources	8
Helixⁱ	471 – 483	Combined sources	13
Helixⁱ	488 – 490	Combined sources	3
Helixⁱ	494 – 506	Combined sources	13

Show more details

3D structure databases

ProteinModelPortalⁱ	Q13873
SMRⁱ	Q13873
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	Q13873

EvolutionaryTraceⁱ

Q13873

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	203 – 504	Protein kinasePROSITE-ProRule annotationAdd BLAST		302

Compositional bias

Feature key	Position(s)	DescriptionActions	Length
Compositional biasⁱ	547 – 550	Poly-Ser	4
Compositional biasⁱ	610 – 618	Poly-Thr	9
Compositional biasⁱ	901 – 908	Poly-Asn	8

Sequence similaritiesⁱ

Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.Curated

Keywords - Domainⁱ

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG3653 Eukaryota ENOG410XS2Z LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000118876
HOGENOMⁱ	HOG000043088
HOVERGENⁱ	HBG096378
InParanoidⁱ	Q13873
KEGG Orthology (KO) More...KOⁱ	K04671
OMAⁱ	STEPLDC
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G03YO
PhylomeDBⁱ	Q13873
TreeFamⁱ	TF314724

Family and domain databases

InterProⁱ	View protein in InterPro IPR000472 Activin_recp IPR015770 BMPR2 IPR011009 Kinase-like_dom_sf IPR000719 Prot_kinase_dom IPR017441 Protein_kinase_ATP_BS IPR000333 TGFB_receptor
PANTHERⁱ	PTHR23255 PTHR23255, 1 hit PTHR23255:SF63 PTHR23255:SF63, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF01064 Activin_recp, 1 hit PF00069 Pkinase, 1 hit
SUPFAMⁱ	SSF56112 SSF56112, 1 hit
PROSITEⁱ	View protein in PROSITE PS00107 PROTEIN_KINASE_ATP, 1 hit PS50011 PROTEIN_KINASE_DOM, 1 hit

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show all Align All

Isoform 1 (identifier: Q13873-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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

Length:1,038

Mass (Da):115,201

Last modified:December 1, 2000 - v2

Checksum:ⁱ1389923CE574B913

GO

Isoform 2 (identifier: Q13873-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
530-530: N → R
531-1038: Missing.

« Hide

        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
MAELMMIWER NKSVSPTVNP MSTAMQNERR

Show »

Length:530

Mass (Da):59,963

Checksum:ⁱA1F2BC5D95F42D7C

GO

Computationally mapped potential isoform sequencesⁱ

There is 1 potential isoform mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation

	A0A1W2PPB5	A0A1W2PPB5_HUMAN		Serine/threonine-protein kinase rec... Serine/threonine-protein kinase receptor, EC 2.7.11.30	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	Length
Natural variantⁱVAR_013670	60	C → Y in PPH1. 1 PublicationCorresponds to variant dbSNP:rs1085307172Ensembl.	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:rs1085307177Ensembl.	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:rs1085307185Ensembl.	1
Natural variantⁱVAR_079590	84	C → F in PPH1; alters alternative splicing of BMPR2. 2 PublicationsCorresponds to variant dbSNP:rs1085307197Ensembl.	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 Publication	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:rs1085307324Ensembl.	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:rs1085307354Ensembl.	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:rs1085307364Ensembl.	1
Natural variantⁱVAR_013683	519	N → K in PPH1. Corresponds to variant dbSNP:rs1085307365Ensembl.	1
Natural variantⁱVAR_019996	775	S → N Polymorphism; 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:rs1006246556Ensembl.	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS33361.1 [Q13873-1]
PIRⁱ	I38935
NCBI Reference Sequences More...RefSeqⁱ	NP_001195.2, NM_001204.6 [Q13873-1]
UniGeneⁱ	Hs.471119

Genome annotation databases

Ensemblⁱ	ENST00000374574; ENSP00000363702; ENSG00000204217 [Q13873-2] ENST00000374580; ENSP00000363708; ENSG00000204217 [Q13873-1]
GeneIDⁱ	659
KEGGⁱ	hsa:659
UCSC genome browser More...UCSCⁱ	uc002uzf.5 human [Q13873-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q13873	Bone morphogenetic protein receptor type-2		MOUSE		1038	UniRef90_Q13873
Receptor protein serine/threonine kinase		PHYCD		1049
Receptor protein serine/threonine kinase		MUSPF		1045
Receptor protein serine/threonine kinase		Enhydra lutris kenyoni		1045
Receptor protein serine/threonine kinase		MYOBR		1042
+164
Q13873-2	Receptor protein serine/threonine kinase		MACMU		530	UniRef90_A0A1D5RCA0
Receptor protein serine/threonine kinase		MACFA		530
Receptor protein serine/threonine kinase		RHIBE		530
Receptor protein serine/threonine kinase		MACNE		530
Receptor protein serine/threonine kinase		GORGO		534
+19

Protein	Similar proteins		Species	Score	Length	Source
Q13873	Bone morphogenetic protein receptor type-2		MOUSE		1038	UniRef50_Q13873
Receptor protein serine/threonine kinase		PHYCD		1049
Receptor protein serine/threonine kinase		MUSPF		1045
Receptor protein serine/threonine kinase		Enhydra lutris kenyoni		1045
Receptor protein serine/threonine kinase		GORGO		1042
+386
Q13873-2	Receptor protein serine/threonine kinase		MACMU		530	UniRef50_A0A1D5RCA0
Receptor protein serine/threonine kinase		MACFA		530
Receptor protein serine/threonine kinase		RHIBE		530
Receptor protein serine/threonine kinase		MACNE		530
Receptor protein serine/threonine kinase		GORGO		534
+28

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]
UniGeneⁱ	Hs.471119

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...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	[»]
ProteinModelPortalⁱ	Q13873
SMRⁱ	Q13873
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	107127, 58 interactors
DIPⁱ	DIP-5794N
ELMⁱ	Q13873
IntActⁱ	Q13873, 37 interactors
MINTⁱ	Q13873
STRINGⁱ	9606.ENSP00000363708

Chemistry databases

BindingDBⁱ	Q13873
ChEMBLⁱ	CHEMBL5467
GuidetoPHARMACOLOGYⁱ	1794

PTM databases

GlyConnectⁱ	1046
iPTMnetⁱ	Q13873
PhosphoSitePlusⁱ	Q13873

Polymorphism and mutation databases

BioMutaⁱ	BMPR2
DMDMⁱ	12643724

Proteomic databases

EPDⁱ	Q13873
MaxQBⁱ	Q13873
PaxDbⁱ	Q13873
PeptideAtlasⁱ	Q13873
PRIDEⁱ	Q13873
ProteomicsDBⁱ	59705

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	659
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000374574; ENSP00000363702; ENSG00000204217 [Q13873-2] ENST00000374580; ENSP00000363708; ENSG00000204217 [Q13873-1]
GeneIDⁱ	659
KEGGⁱ	hsa:659
UCSCⁱ	uc002uzf.5 human [Q13873-1]

Organism-specific databases

CTDⁱ	659
DisGeNETⁱ	659
EuPathDBⁱ	HostDB:ENSG00000204217.12
GeneCardsⁱ	BMPR2
GeneReviewsⁱ	BMPR2
HGNCⁱ	HGNC:1078 BMPR2
HPAⁱ	HPA017385 HPA049014
MalaCardsⁱ	BMPR2
MIMⁱ	178600 phenotype 265450 phenotype 600799 gene
neXtProtⁱ	NX_Q13873
OpenTargetsⁱ	ENSG00000204217
Orphanetⁱ	275777 Heritable pulmonary arterial hypertension 275766 Idiopathic pulmonary arterial hypertension 31837 Pulmonary venoocclusive disease
PharmGKBⁱ	PA25388
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3653 Eukaryota ENOG410XS2Z LUCA
GeneTreeⁱ	ENSGT00760000118876
HOGENOMⁱ	HOG000043088
HOVERGENⁱ	HBG096378
InParanoidⁱ	Q13873
KOⁱ	K04671
OMAⁱ	STEPLDC
OrthoDBⁱ	EOG091G03YO
PhylomeDBⁱ	Q13873
TreeFamⁱ	TF314724

Enzyme and pathway databases

Reactomeⁱ	R-HSA-201451 Signaling by BMP
SignaLinkⁱ	Q13873
SIGNORⁱ	Q13873

Miscellaneous databases

ChiTaRSⁱ	BMPR2 human
EvolutionaryTraceⁱ	Q13873
GeneWikiⁱ	BMPR2
GenomeRNAiⁱ	659
Protein Ontology More...PROⁱ	PR:Q13873
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000204217 Expressed in 220 organ(s), highest expression level in upper lobe of lung
CleanExⁱ	HS_BMPR2
ExpressionAtlasⁱ	Q13873 baseline and differential
Genevisibleⁱ	Q13873 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR000472 Activin_recp IPR015770 BMPR2 IPR011009 Kinase-like_dom_sf IPR000719 Prot_kinase_dom IPR017441 Protein_kinase_ATP_BS IPR000333 TGFB_receptor
PANTHERⁱ	PTHR23255 PTHR23255, 1 hit PTHR23255:SF63 PTHR23255:SF63, 1 hit
Pfamⁱ	View protein in Pfam PF01064 Activin_recp, 1 hit PF00069 Pkinase, 1 hit
SUPFAMⁱ	SSF56112 SSF56112, 1 hit
PROSITEⁱ	View protein in PROSITE PS00107 PROTEIN_KINASE_ATP, 1 hit PS50011 PROTEIN_KINASE_DOM, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	BMPR2_HUMAN
Accessionⁱ	Q13873Primary (citable) accession number: Q13873 Secondary accession number(s): Q13161 , Q16569, Q4ZG08, Q53SA5, Q585T8
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
	Last sequence update:	December 1, 2000
	Last modified:	October 10, 2018
	This is version 204 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, Complete proteome, Reference proteome

Documents

Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human and mouse protein kinases
Human and mouse protein kinases: classification and index
SIMILARITY comments
Index of protein domains and families
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q13873 (BMPR2_HUMAN)

Your basket is currently empty. i <p>When browsing through different UniProt proteins, you can use the ‘basket’ to save them, so that you can back to find or analyse them later.<p><a href='/help/basket' target='_top'>More...</a></p>

Bone morphogenetic protein receptor type-2

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Sites

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Plasma membrane

Extracellular region or secreted

Nucleus

Plasma Membrane

Other locations

Topology

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

Chemistry databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Compositional bias

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

Your basket is currently empty. ⁱ

Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ