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UniProtKB - Q13873 (BMPR2_HUMAN)

Protein

Bone morphogenetic protein receptor type-2

Gene

BMPR2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionKinase, Receptor, Serine/threonine-protein kinase, Transferase
LigandATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000204217.12
HGNCiHGNC:1078 BMPR2
MIMi600799 gene
neXtProtiNX_Q13873

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

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

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.
See also OMIM:178600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01367060C → Y in PPH1. 1 PublicationCorresponds to variant dbSNP:rs1085307172Ensembl.1
Natural variantiVAR_07958864S → R in PPH1; unknown pathological significance; unchanged subcellular localization. 1 Publication1
Natural variantiVAR_07304167Y → C in PPH1; significant decrease in nitric oxide synthesis by endothelial cells. 1 PublicationCorresponds to variant dbSNP:rs1085307177Ensembl.1
Natural variantiVAR_07958977I → L in PPH1; unknown pathological significance; unchanged subcellular localization. 2 Publications1
Natural variantiVAR_03310982Q → H in PPH1. 1 PublicationCorresponds to variant dbSNP:rs1085307185Ensembl.1
Natural variantiVAR_07959084C → F in PPH1; alters alternative splicing of BMPR2. 2 PublicationsCorresponds to variant dbSNP:rs1085307197Ensembl.1
Natural variantiVAR_07959187H → Y in PPH1; unknown pathological significance; unchanged subcellular localization. 2 Publications1
Natural variantiVAR_07959292Q → L in PPH1; unknown pathological significance; unchanged subcellular localization. 2 Publications1
Natural variantiVAR_079593109Q → H in PPH1; unknown pathological significance; unchanged subcellular localization. 1 Publication1
Natural variantiVAR_013671117C → Y in PPH1. 1 Publication1
Natural variantiVAR_013672118C → W in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852743EnsemblClinVar.1
Natural variantiVAR_013673123C → R in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852750EnsemblClinVar.1
Natural variantiVAR_013674123C → S in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852750EnsemblClinVar.1
Natural variantiVAR_079594138P → A in PPH1; unknown pathological significance; unchanged subcellular localization. 1 Publication1
Natural variantiVAR_079595162A → P in PPH1; unknown pathological significance; unchanged subcellular localization. 2 Publications1
Natural variantiVAR_033110182G → D in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852754EnsemblClinVar.1
Natural variantiVAR_079596218 – 1038Missing in PPH1; changed localization to the plasma membrane. 1 PublicationAdd BLAST821
Natural variantiVAR_079597248R → G in PPH1; unknown pathological significance; unchanged subcellular localization. 1 Publication1
Natural variantiVAR_079598264D → N in PPH1; unknown pathological significance; unchanged subcellular localization. 2 Publications1
Natural variantiVAR_079599298 – 1038Missing in PPH1; loss of localization to the plasma membrane; localized to the cytoplasm. 1 PublicationAdd BLAST741
Natural variantiVAR_079600341V → M in PPH1; unknown pathological significance; unchanged subcellular localization. 2 PublicationsCorresponds to variant dbSNP:rs767882551Ensembl.1
Natural variantiVAR_013676347C → Y in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852744EnsemblClinVar.1
Natural variantiVAR_013677420C → R in PPH1. 1 PublicationCorresponds to variant dbSNP:rs1085307324Ensembl.1
Natural variantiVAR_079601467K → R in PPH1; unknown pathological significance; unchanged subcellular localization. 1 Publication1
Natural variantiVAR_013678483C → R in PPH1; sporadic. 2 PublicationsCorresponds to variant dbSNP:rs1085307354Ensembl.1
Natural variantiVAR_013679485D → G in PPH1; complete loss of function. 2 PublicationsCorresponds to variant dbSNP:rs137852745EnsemblClinVar.1
Natural variantiVAR_013680491R → Q in PPH1; sporadic. 1 PublicationCorresponds to variant dbSNP:rs137852749EnsemblClinVar.1
Natural variantiVAR_013681491R → W in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852746EnsemblClinVar.1
Natural variantiVAR_013682512K → T in PPH1. 1 PublicationCorresponds to variant dbSNP:rs1085307364Ensembl.1
Natural variantiVAR_013683519N → K in PPH1. Corresponds to variant dbSNP:rs1085307365Ensembl.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 PublicationCorresponds to variant dbSNP:rs1006246556Ensembl.1
Natural variantiVAR_033111899R → 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
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
GeneReviewsiBMPR2
MalaCardsiBMPR2
MIMi178600 phenotype
265450 phenotype
OpenTargetsiENSG00000204217
Orphaneti275786 Drug- or toxin-induced pulmonary arterial hypertension
275777 Heritable 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...) asparagineSequence analysis1
Disulfide bondi60 ↔ 84Combined sources1 Publication
Disulfide bondi94 ↔ 117Combined sources1 Publication
Disulfide bondi99 ↔ 116Combined sources1 Publication
Glycosylationi110N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi118 ↔ 123Combined sources1 Publication
Glycosylationi126N-linked (GlcNAc...) asparagineSequence 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
ProteomicsDBi59705

PTM databases

GlyConnecti1046
iPTMnetiQ13873
PhosphoSitePlusiQ13873

Expressioni

Tissue specificityi

Highly expressed in heart and liver.

Gene expression databases

BgeeiENSG00000204217 Expressed in 220 organ(s), highest expression level in upper lobe of lung
CleanExiHS_BMPR2
ExpressionAtlasiQ13873 baseline and differential
GenevisibleiQ13873 HS

Organism-specific databases

HPAiHPA017385
HPA049014

Interactioni

Subunit structurei

Interacts with GDF5.1 Publication

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi107127, 58 interactors
DIPiDIP-5794N
ELMiQ13873
IntActiQ13873, 37 interactors
MINTiQ13873
STRINGi9606.ENSP00000363708

Chemistry databases

BindingDBiQ13873

Structurei

Secondary structure

11038
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3653 Eukaryota
ENOG410XS2Z LUCA
GeneTreeiENSGT00760000118876
HOGENOMiHOG000043088
HOVERGENiHBG096378
InParanoidiQ13873
KOiK04671
OMAiANTVAHR
OrthoDBiEOG091G03YO
PhylomeDBiQ13873
TreeFamiTF314724

Family and domain databases

InterProiView 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
PANTHERiPTHR23255 PTHR23255, 1 hit
PTHR23255:SF63 PTHR23255:SF63, 1 hit
PfamiView protein in Pfam
PF01064 Activin_recp, 1 hit
PF00069 Pkinase, 1 hit
SUPFAMiSSF56112 SSF56112, 1 hit
PROSITEiView 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. AlignAdd to basket

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

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PPB5A0A1W2PPB5_HUMAN
Serine/threonine-protein kinase rec...
BMPR2
505Annotation score:

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 PublicationCorresponds to variant dbSNP:rs1085307172Ensembl.1
Natural variantiVAR_07958864S → R in PPH1; unknown pathological significance; unchanged subcellular localization. 1 Publication1
Natural variantiVAR_07304167Y → C in PPH1; significant decrease in nitric oxide synthesis by endothelial cells. 1 PublicationCorresponds to variant dbSNP:rs1085307177Ensembl.1
Natural variantiVAR_07958977I → L in PPH1; unknown pathological significance; unchanged subcellular localization. 2 Publications1
Natural variantiVAR_03310982Q → H in PPH1. 1 PublicationCorresponds to variant dbSNP:rs1085307185Ensembl.1
Natural variantiVAR_07959084C → F in PPH1; alters alternative splicing of BMPR2. 2 PublicationsCorresponds to variant dbSNP:rs1085307197Ensembl.1
Natural variantiVAR_07959187H → Y in PPH1; unknown pathological significance; unchanged subcellular localization. 2 Publications1
Natural variantiVAR_07959292Q → L in PPH1; unknown pathological significance; unchanged subcellular localization. 2 Publications1
Natural variantiVAR_079593109Q → H in PPH1; unknown pathological significance; unchanged subcellular localization. 1 Publication1
Natural variantiVAR_013671117C → Y in PPH1. 1 Publication1
Natural variantiVAR_013672118C → W in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852743EnsemblClinVar.1
Natural variantiVAR_013673123C → R in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852750EnsemblClinVar.1
Natural variantiVAR_013674123C → S in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852750EnsemblClinVar.1
Natural variantiVAR_079594138P → A in PPH1; unknown pathological significance; unchanged subcellular localization. 1 Publication1
Natural variantiVAR_079595162A → P in PPH1; unknown pathological significance; unchanged subcellular localization. 2 Publications1
Natural variantiVAR_033110182G → D in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852754EnsemblClinVar.1
Natural variantiVAR_079596218 – 1038Missing in PPH1; changed localization to the plasma membrane. 1 PublicationAdd BLAST821
Natural variantiVAR_013675224E → D1 PublicationCorresponds to variant dbSNP:rs754343081Ensembl.1
Natural variantiVAR_079597248R → G in PPH1; unknown pathological significance; unchanged subcellular localization. 1 Publication1
Natural variantiVAR_079598264D → N in PPH1; unknown pathological significance; unchanged subcellular localization. 2 Publications1
Natural variantiVAR_079599298 – 1038Missing in PPH1; loss of localization to the plasma membrane; localized to the cytoplasm. 1 PublicationAdd BLAST741
Natural variantiVAR_079600341V → M in PPH1; unknown pathological significance; unchanged subcellular localization. 2 PublicationsCorresponds to variant dbSNP:rs767882551Ensembl.1
Natural variantiVAR_013676347C → Y in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852744EnsemblClinVar.1
Natural variantiVAR_013677420C → R in PPH1. 1 PublicationCorresponds to variant dbSNP:rs1085307324Ensembl.1
Natural variantiVAR_079601467K → R in PPH1; unknown pathological significance; unchanged subcellular localization. 1 Publication1
Natural variantiVAR_013678483C → R in PPH1; sporadic. 2 PublicationsCorresponds to variant dbSNP:rs1085307354Ensembl.1
Natural variantiVAR_013679485D → G in PPH1; complete loss of function. 2 PublicationsCorresponds to variant dbSNP:rs137852745EnsemblClinVar.1
Natural variantiVAR_013680491R → Q in PPH1; sporadic. 1 PublicationCorresponds to variant dbSNP:rs137852749EnsemblClinVar.1
Natural variantiVAR_013681491R → W in PPH1. 1 PublicationCorresponds to variant dbSNP:rs137852746EnsemblClinVar.1
Natural variantiVAR_013682512K → T in PPH1. 1 PublicationCorresponds to variant dbSNP:rs1085307364Ensembl.1
Natural variantiVAR_013683519N → K in PPH1. Corresponds to variant dbSNP:rs1085307365Ensembl.1
Natural variantiVAR_019996775S → N Polymorphism; unchanged subcellular localization. 3 PublicationsCorresponds to variant dbSNP:rs2228545EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs1006246556Ensembl.1
Natural variantiVAR_033111899R → P in PPH1; leads to constitutive activation of the MAPK14 pathway. 1 PublicationCorresponds to variant dbSNP:rs137852752EnsemblClinVar.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

Similar 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
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, 58 interactors
DIPiDIP-5794N
ELMiQ13873
IntActiQ13873, 37 interactors
MINTiQ13873
STRINGi9606.ENSP00000363708

Chemistry databases

BindingDBiQ13873
ChEMBLiCHEMBL5467
GuidetoPHARMACOLOGYi1794

PTM databases

GlyConnecti1046
iPTMnetiQ13873
PhosphoSitePlusiQ13873

Polymorphism and mutation databases

BioMutaiBMPR2
DMDMi12643724

Proteomic databases

EPDiQ13873
MaxQBiQ13873
PaxDbiQ13873
PeptideAtlasiQ13873
PRIDEiQ13873
ProteomicsDBi59705

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
EuPathDBiHostDB:ENSG00000204217.12
GeneCardsiBMPR2
GeneReviewsiBMPR2
HGNCiHGNC:1078 BMPR2
HPAiHPA017385
HPA049014
MalaCardsiBMPR2
MIMi178600 phenotype
265450 phenotype
600799 gene
neXtProtiNX_Q13873
OpenTargetsiENSG00000204217
Orphaneti275786 Drug- or toxin-induced pulmonary arterial hypertension
275777 Heritable pulmonary arterial hypertension
31837 Pulmonary venoocclusive disease
PharmGKBiPA25388
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3653 Eukaryota
ENOG410XS2Z LUCA
GeneTreeiENSGT00760000118876
HOGENOMiHOG000043088
HOVERGENiHBG096378
InParanoidiQ13873
KOiK04671
OMAiANTVAHR
OrthoDBiEOG091G03YO
PhylomeDBiQ13873
TreeFamiTF314724

Enzyme and pathway databases

ReactomeiR-HSA-201451 Signaling by BMP
SignaLinkiQ13873
SIGNORiQ13873

Miscellaneous databases

ChiTaRSiBMPR2 human
EvolutionaryTraceiQ13873
GeneWikiiBMPR2
GenomeRNAii659
PROiPR:Q13873
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000204217 Expressed in 220 organ(s), highest expression level in upper lobe of lung
CleanExiHS_BMPR2
ExpressionAtlasiQ13873 baseline and differential
GenevisibleiQ13873 HS

Family and domain databases

InterProiView 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
PANTHERiPTHR23255 PTHR23255, 1 hit
PTHR23255:SF63 PTHR23255:SF63, 1 hit
PfamiView protein in Pfam
PF01064 Activin_recp, 1 hit
PF00069 Pkinase, 1 hit
SUPFAMiSSF56112 SSF56112, 1 hit
PROSITEiView protein in PROSITE
PS00107 PROTEIN_KINASE_ATP, 1 hit
PS50011 PROTEIN_KINASE_DOM, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiBMPR2_HUMAN
AccessioniPrimary (citable) accession number: Q13873
Secondary accession number(s): Q13161
, Q16569, Q4ZG08, Q53SA5, Q585T8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 1, 2000
Last modified: November 7, 2018
This is version 205 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
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