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Protein

Bone morphogenetic protein receptor type-2

Gene

BMPR2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei230ATP1 Publication1
Active sitei333Proton acceptorPROSITE-ProRule annotation1
Binding sitei351ATP1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi209 – 217ATP1 Publication9
Nucleotide bindingi280 – 282ATP1 Publication3
Nucleotide bindingi337 – 338ATP1 Publication2

GO - Molecular functioni

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
  • brain development Source: Ensembl
  • cellular response to BMP stimulus Source: BHF-UCL
  • 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 systemic arterial blood pressure Source: BHF-UCL
  • 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
  • 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 transcription from RNA polymerase II promoter Source: BHF-UCL
  • proteoglycan biosynthetic process Source: AgBase
  • regulation of cell proliferation Source: HGNC
  • 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
  • transcription from RNA polymerase II promoter Source: BHF-UCL
  • transmembrane receptor protein serine/threonine kinase signaling pathway Source: BHF-UCL
  • tricuspid valve morphogenesis Source: BHF-UCL
  • vascular endothelial growth factor receptor signaling pathway Source: BHF-UCL
  • venous blood vessel development Source: BHF-UCL
  • ventricular septum morphogenesis Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Receptor, Serine/threonine-protein kinase, Transferase

Keywords - Ligandi

ATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:HS00791-MONOMER.
ReactomeiR-HSA-201451. Signaling by BMP.
SignaLinkiQ13873.
SIGNORiQ13873.

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:1078. BMPR2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini27 – 150ExtracellularSequence analysisAdd BLAST124
Transmembranei151 – 171HelicalSequence analysisAdd BLAST21
Topological domaini172 – 1038CytoplasmicSequence analysisAdd BLAST867

GO - Cellular componenti

  • apical plasma membrane Source: Ensembl
  • basal plasma membrane Source: Ensembl
  • caveola Source: Ensembl
  • cell-cell junction Source: BHF-UCL
  • cell surface Source: Ensembl
  • cytoplasm Source: Ensembl
  • dendrite Source: Ensembl
  • extracellular space Source: UniProtKB
  • integral component of plasma membrane Source: BHF-UCL
  • neuronal cell body Source: Ensembl
  • plasma membrane Source: UniProtKB
  • postsynaptic density Source: Ensembl
  • spanning component of plasma membrane Source: AgBase
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Pulmonary hypertension, primary, 1 (PPH1)7 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.
See also OMIM:178600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01367060C → Y in PPH1. 1 Publication1
Natural variantiVAR_07304167Y → C in PPH1; significant decrease in nitric oxide synthesis by endothelial cells. 1 Publication1
Natural variantiVAR_03310982Q → H in PPH1. 1 Publication1
Natural variantiVAR_013671117C → Y in PPH1. 1 Publication1
Natural variantiVAR_013672118C → W in PPH1. 1 PublicationCorresponds to variant rs137852743dbSNPEnsembl.1
Natural variantiVAR_013673123C → R in PPH1. 1 PublicationCorresponds to variant rs137852750dbSNPEnsembl.1
Natural variantiVAR_013674123C → S in PPH1. 1 PublicationCorresponds to variant rs137852750dbSNPEnsembl.1
Natural variantiVAR_033110182G → D in PPH1. 1 PublicationCorresponds to variant rs137852754dbSNPEnsembl.1
Natural variantiVAR_013676347C → Y in PPH1. 1 PublicationCorresponds to variant rs137852744dbSNPEnsembl.1
Natural variantiVAR_013677420C → R in PPH1. 1 Publication1
Natural variantiVAR_013678483C → R in PPH1; sporadic. 2 Publications1
Natural variantiVAR_013679485D → G in PPH1; complete loss of function. 2 PublicationsCorresponds to variant rs137852745dbSNPEnsembl.1
Natural variantiVAR_013680491R → Q in PPH1; sporadic. 1 PublicationCorresponds to variant rs137852749dbSNPEnsembl.1
Natural variantiVAR_013681491R → W in PPH1. 1 PublicationCorresponds to variant rs137852746dbSNPEnsembl.1
Natural variantiVAR_013682512K → T in PPH1. 1 Publication1
Natural variantiVAR_013683519N → K in PPH1. 1
Natural variantiVAR_073042863S → 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 Publication1
Natural variantiVAR_033111899R → P in PPH1; leads to constitutive activation of the MAPK14 pathway. 1 PublicationCorresponds to variant rs137852752dbSNPEnsembl.1
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.
See also OMIM:265450

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi659.
MalaCardsiBMPR2.
MIMi178600. phenotype.
265450. phenotype.
OpenTargetsiENSG00000204217.
Orphaneti275777. Heritable pulmonary arterial hypertension.
275766. Idiopathic pulmonary arterial hypertension.
31837. Pulmonary venoocclusive disease.
PharmGKBiPA25388.

Chemistry databases

ChEMBLiCHEMBL5467.
GuidetoPHARMACOLOGYi1794.

Polymorphism and mutation databases

BioMutaiBMPR2.
DMDMi12643724.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26Sequence analysisAdd BLAST26
ChainiPRO_000002441527 – 1038Bone morphogenetic protein receptor type-2Add BLAST1012

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi34 ↔ 66Combined sources1 Publication
Glycosylationi55N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi60 ↔ 84Combined sources1 Publication
Disulfide bondi94 ↔ 117Combined sources1 Publication
Disulfide bondi99 ↔ 116Combined sources1 Publication
Glycosylationi110N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi118 ↔ 123Combined sources1 Publication
Glycosylationi126N-linked (GlcNAc...)Sequence analysis1
Modified residuei379PhosphothreonineCombined sources1
Modified residuei586PhosphoserineCombined sources1
Modified residuei680PhosphoserineBy similarity1
Modified residuei681PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ13873.
MaxQBiQ13873.
PaxDbiQ13873.
PeptideAtlasiQ13873.
PRIDEiQ13873.

PTM databases

iPTMnetiQ13873.
PhosphoSitePlusiQ13873.

Expressioni

Tissue specificityi

Highly expressed in heart and liver.

Gene expression databases

BgeeiENSG00000204217.
CleanExiHS_BMPR2.
GenevisibleiQ13873. HS.

Organism-specific databases

HPAiHPA017385.
HPA049014.

Interactioni

Subunit structurei

Interacts with GDF5.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
C4bpaP086073EBI-527196,EBI-527325From a different organism.
GDF5P430264EBI-527196,EBI-8571476
PrkcbP684044EBI-527196,EBI-397048From a different organism.
PRKG1Q139762EBI-527196,EBI-3952014

GO - Molecular functioni

  • BMP binding Source: UniProtKB

Protein-protein interaction databases

BioGridi107127. 56 interactors.
DIPiDIP-5794N.
IntActiQ13873. 34 interactors.
MINTiMINT-124272.
STRINGi9606.ENSP00000363708.

Chemistry databases

BindingDBiQ13873.

Structurei

Secondary structure

11038
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi33 – 35Combined sources3
Turni42 – 47Combined sources6
Helixi48 – 50Combined sources3
Turni53 – 56Combined sources4
Beta strandi57 – 59Combined sources3
Beta strandi66 – 73Combined sources8
Beta strandi76 – 84Combined sources9
Beta strandi90 – 92Combined sources3
Turni105 – 109Combined sources5
Beta strandi113 – 118Combined sources6
Helixi123 – 125Combined sources3
Beta strandi202 – 211Combined sources10
Beta strandi213 – 222Combined sources10
Beta strandi225 – 233Combined sources9
Helixi234 – 236Combined sources3
Helixi237 – 247Combined sources11
Beta strandi260 – 267Combined sources8
Beta strandi273 – 279Combined sources7
Helixi287 – 293Combined sources7
Helixi298 – 316Combined sources19
Helixi322 – 324Combined sources3
Beta strandi338 – 341Combined sources4
Beta strandi347 – 349Combined sources3
Beta strandi359 – 362Combined sources4
Helixi380 – 382Combined sources3
Helixi385 – 388Combined sources4
Helixi394 – 396Combined sources3
Helixi397 – 417Combined sources21
Helixi421 – 423Combined sources3
Helixi437 – 440Combined sources4
Helixi446 – 453Combined sources8
Helixi471 – 483Combined sources13
Helixi488 – 490Combined sources3
Helixi494 – 506Combined sources13

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2HLQX-ray1.45A33-131[»]
3G2FX-ray2.35A/B189-517[»]
ProteinModelPortaliQ13873.
SMRiQ13873.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ13873.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini203 – 504Protein kinasePROSITE-ProRule annotationAdd BLAST302

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi547 – 550Poly-Ser4
Compositional biasi610 – 618Poly-Thr9
Compositional biasi901 – 908Poly-Asn8

Sequence similaritiesi

Contains 1 protein kinase domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3653. Eukaryota.
ENOG410XS2Z. LUCA.
GeneTreeiENSGT00760000118876.
HOGENOMiHOG000043088.
HOVERGENiHBG050705.
InParanoidiQ13873.
KOiK04671.
OMAiHATNVAQ.
OrthoDBiEOG091G03YO.
PhylomeDBiQ13873.
TreeFamiTF314724.

Family and domain databases

InterProiIPR000472. Activin_recp.
IPR015770. BMPR2.
IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR000333. TGFB_receptor.
[Graphical view]
PANTHERiPTHR23255. PTHR23255. 1 hit.
PTHR23255:SF63. PTHR23255:SF63. 1 hit.
PfamiPF01064. Activin_recp. 1 hit.
PF00069. Pkinase. 1 hit.
[Graphical view]
SUPFAMiSSF56112. SSF56112. 1 hit.
PROSITEiPS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
[Graphical view]

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. AlignAdd to basket

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

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

Show »
Length:530
Mass (Da):59,963
Checksum:iA1F2BC5D95F42D7C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti828G → R in CAA88759 (PubMed:7644468).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01367060C → Y in PPH1. 1 Publication1
Natural variantiVAR_07304167Y → C in PPH1; significant decrease in nitric oxide synthesis by endothelial cells. 1 Publication1
Natural variantiVAR_03310982Q → H in PPH1. 1 Publication1
Natural variantiVAR_013671117C → Y in PPH1. 1 Publication1
Natural variantiVAR_013672118C → W in PPH1. 1 PublicationCorresponds to variant rs137852743dbSNPEnsembl.1
Natural variantiVAR_013673123C → R in PPH1. 1 PublicationCorresponds to variant rs137852750dbSNPEnsembl.1
Natural variantiVAR_013674123C → S in PPH1. 1 PublicationCorresponds to variant rs137852750dbSNPEnsembl.1
Natural variantiVAR_033110182G → D in PPH1. 1 PublicationCorresponds to variant rs137852754dbSNPEnsembl.1
Natural variantiVAR_013675224E → D.1 PublicationCorresponds to variant rs754343081dbSNPEnsembl.1
Natural variantiVAR_013676347C → Y in PPH1. 1 PublicationCorresponds to variant rs137852744dbSNPEnsembl.1
Natural variantiVAR_013677420C → R in PPH1. 1 Publication1
Natural variantiVAR_013678483C → R in PPH1; sporadic. 2 Publications1
Natural variantiVAR_013679485D → G in PPH1; complete loss of function. 2 PublicationsCorresponds to variant rs137852745dbSNPEnsembl.1
Natural variantiVAR_013680491R → Q in PPH1; sporadic. 1 PublicationCorresponds to variant rs137852749dbSNPEnsembl.1
Natural variantiVAR_013681491R → W in PPH1. 1 PublicationCorresponds to variant rs137852746dbSNPEnsembl.1
Natural variantiVAR_013682512K → T in PPH1. 1 Publication1
Natural variantiVAR_013683519N → K in PPH1. 1
Natural variantiVAR_019996775S → N.1 PublicationCorresponds to variant rs2228545dbSNPEnsembl.1
Natural variantiVAR_073042863S → 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 Publication1
Natural variantiVAR_033111899R → P in PPH1; leads to constitutive activation of the MAPK14 pathway. 1 PublicationCorresponds to variant rs137852752dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_054441530N → R in isoform 2. 2 Publications1
Alternative sequenceiVSP_054442531 – 1038Missing in isoform 2. 2 PublicationsAdd BLAST508

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.
CCDSiCCDS33361.1. [Q13873-1]
PIRiI38935.
RefSeqiNP_001195.2. NM_001204.6. [Q13873-1]
UniGeneiHs.471119.

Genome annotation databases

EnsembliENST00000374574; ENSP00000363702; ENSG00000204217. [Q13873-2]
ENST00000374580; ENSP00000363708; ENSG00000204217. [Q13873-1]
GeneIDi659.
KEGGihsa:659.
UCSCiuc002uzf.5. human. [Q13873-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS33361.1. [Q13873-1]
PIRiI38935.
RefSeqiNP_001195.2. NM_001204.6. [Q13873-1]
UniGeneiHs.471119.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2HLQX-ray1.45A33-131[»]
3G2FX-ray2.35A/B189-517[»]
ProteinModelPortaliQ13873.
SMRiQ13873.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107127. 56 interactors.
DIPiDIP-5794N.
IntActiQ13873. 34 interactors.
MINTiMINT-124272.
STRINGi9606.ENSP00000363708.

Chemistry databases

BindingDBiQ13873.
ChEMBLiCHEMBL5467.
GuidetoPHARMACOLOGYi1794.

PTM databases

iPTMnetiQ13873.
PhosphoSitePlusiQ13873.

Polymorphism and mutation databases

BioMutaiBMPR2.
DMDMi12643724.

Proteomic databases

EPDiQ13873.
MaxQBiQ13873.
PaxDbiQ13873.
PeptideAtlasiQ13873.
PRIDEiQ13873.

Protocols and materials databases

DNASUi659.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000374574; ENSP00000363702; ENSG00000204217. [Q13873-2]
ENST00000374580; ENSP00000363708; ENSG00000204217. [Q13873-1]
GeneIDi659.
KEGGihsa:659.
UCSCiuc002uzf.5. human. [Q13873-1]

Organism-specific databases

CTDi659.
DisGeNETi659.
GeneCardsiBMPR2.
GeneReviewsiBMPR2.
HGNCiHGNC:1078. BMPR2.
HPAiHPA017385.
HPA049014.
MalaCardsiBMPR2.
MIMi178600. phenotype.
265450. phenotype.
600799. gene.
neXtProtiNX_Q13873.
OpenTargetsiENSG00000204217.
Orphaneti275777. Heritable pulmonary arterial hypertension.
275766. Idiopathic pulmonary arterial hypertension.
31837. Pulmonary venoocclusive disease.
PharmGKBiPA25388.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3653. Eukaryota.
ENOG410XS2Z. LUCA.
GeneTreeiENSGT00760000118876.
HOGENOMiHOG000043088.
HOVERGENiHBG050705.
InParanoidiQ13873.
KOiK04671.
OMAiHATNVAQ.
OrthoDBiEOG091G03YO.
PhylomeDBiQ13873.
TreeFamiTF314724.

Enzyme and pathway databases

BioCyciZFISH:HS00791-MONOMER.
ReactomeiR-HSA-201451. Signaling by BMP.
SignaLinkiQ13873.
SIGNORiQ13873.

Miscellaneous databases

ChiTaRSiBMPR2. human.
EvolutionaryTraceiQ13873.
GeneWikiiBMPR2.
GenomeRNAii659.
PROiQ13873.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000204217.
CleanExiHS_BMPR2.
GenevisibleiQ13873. HS.

Family and domain databases

InterProiIPR000472. Activin_recp.
IPR015770. BMPR2.
IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR000333. TGFB_receptor.
[Graphical view]
PANTHERiPTHR23255. PTHR23255. 1 hit.
PTHR23255:SF63. PTHR23255:SF63. 1 hit.
PfamiPF01064. Activin_recp. 1 hit.
PF00069. Pkinase. 1 hit.
[Graphical view]
SUPFAMiSSF56112. SSF56112. 1 hit.
PROSITEiPS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBMPR2_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 188 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.