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Q13873

- BMPR2_HUMAN

UniProt

Q13873 - BMPR2_HUMAN

Protein

Bone morphogenetic protein receptor type-2

Gene

BMPR2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 165 (01 Oct 2014)
      Sequence version 2 (01 Dec 2000)
      Previous versions | rss
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    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 BMP-7, BMP-2 and, less efficiently, BMP-4. Binding is weak but enhanced by the presence of type I receptors for BMPs.

    Catalytic activityi

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

    Cofactori

    Magnesium or manganese.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei230 – 2301ATP
    Active sitei333 – 3331Proton acceptorPROSITE-ProRule annotation
    Binding sitei351 – 3511ATP

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi209 – 2179ATP
    Nucleotide bindingi280 – 2823ATP
    Nucleotide bindingi337 – 3382ATP

    GO - Molecular functioni

    1. activin receptor activity, type II Source: Reactome
    2. ATP binding Source: UniProtKB-KW
    3. metal ion binding Source: UniProtKB-KW
    4. protein binding Source: IntAct
    5. receptor signaling protein serine/threonine kinase activity Source: InterPro
    6. transforming growth factor beta-activated receptor activity Source: InterPro

    GO - Biological processi

    1. activin receptor signaling pathway Source: GOC
    2. anterior/posterior pattern specification Source: BHF-UCL
    3. artery development Source: BHF-UCL
    4. blood vessel remodeling Source: BHF-UCL
    5. BMP signaling pathway Source: BHF-UCL
    6. brain development Source: Ensembl
    7. cellular response to starvation Source: BHF-UCL
    8. chondrocyte development Source: AgBase
    9. lung alveolus development Source: BHF-UCL
    10. lymphangiogenesis Source: BHF-UCL
    11. lymphatic endothelial cell differentiation Source: BHF-UCL
    12. mesoderm formation Source: BHF-UCL
    13. negative regulation of cell growth Source: UniProtKB
    14. negative regulation of chondrocyte proliferation Source: AgBase
    15. negative regulation of DNA biosynthetic process Source: BHF-UCL
    16. negative regulation of systemic arterial blood pressure Source: BHF-UCL
    17. negative regulation of vasoconstriction Source: BHF-UCL
    18. positive regulation of BMP signaling pathway Source: UniProtKB
    19. positive regulation of bone mineralization Source: BHF-UCL
    20. positive regulation of endothelial cell migration Source: UniProtKB
    21. positive regulation of endothelial cell proliferation Source: UniProtKB
    22. positive regulation of epithelial cell migration Source: UniProtKB
    23. positive regulation of osteoblast differentiation Source: BHF-UCL
    24. positive regulation of pathway-restricted SMAD protein phosphorylation Source: UniProtKB
    25. regulation of cell proliferation Source: HGNC
    26. regulation of lung blood pressure Source: BHF-UCL
    27. retina vasculature development in camera-type eye Source: BHF-UCL
    28. transcription from RNA polymerase II promoter Source: BHF-UCL
    29. transmembrane receptor protein serine/threonine kinase signaling pathway Source: BHF-UCL
    30. vascular endothelial growth factor receptor signaling pathway Source: BHF-UCL
    31. venous blood vessel development Source: BHF-UCL

    Keywords - Molecular functioni

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

    Keywords - Ligandi

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

    Enzyme and pathway databases

    ReactomeiREACT_12034. Signaling by BMP.
    SignaLinkiQ13873.

    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
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:1078. BMPR2.

    Subcellular locationi

    GO - Cellular componenti

    1. apical plasma membrane Source: Ensembl
    2. basal plasma membrane Source: Ensembl
    3. caveola Source: Ensembl
    4. cell surface Source: Ensembl
    5. cytoplasm Source: Ensembl
    6. dendrite Source: Ensembl
    7. extracellular space Source: UniProt
    8. fully spanning plasma membrane Source: AgBase
    9. integral component of plasma membrane Source: BHF-UCL
    10. neuronal cell body Source: Ensembl
    11. plasma membrane Source: BHF-UCL

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]: A 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.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti60 – 601C → Y in PPH1. 1 Publication
    VAR_013670
    Natural varianti82 – 821Q → H in PPH1. 1 Publication
    VAR_033109
    Natural varianti117 – 1171C → Y in PPH1. 1 Publication
    VAR_013671
    Natural varianti118 – 1181C → W in PPH1. 1 Publication
    VAR_013672
    Natural varianti123 – 1231C → R in PPH1. 1 Publication
    VAR_013673
    Natural varianti123 – 1231C → S in PPH1. 1 Publication
    VAR_013674
    Natural varianti182 – 1821G → D in PPH1. 1 Publication
    VAR_033110
    Natural varianti347 – 3471C → Y in PPH1. 1 Publication
    VAR_013676
    Natural varianti420 – 4201C → R in PPH1. 1 Publication
    VAR_013677
    Natural varianti483 – 4831C → R in PPH1; sporadic. 2 Publications
    VAR_013678
    Natural varianti485 – 4851D → G in PPH1; complete loss of function. 1 Publication
    VAR_013679
    Natural varianti491 – 4911R → Q in PPH1; sporadic. 1 Publication
    VAR_013680
    Natural varianti491 – 4911R → W in PPH1. 1 Publication
    VAR_013681
    Natural varianti512 – 5121K → T in PPH1. 1 Publication
    VAR_013682
    Natural varianti519 – 5191N → K in PPH1.
    VAR_013683
    Natural varianti899 – 8991R → P in PPH1; leads to constitutive activation of the MAPK14 pathway. 1 Publication
    Corresponds to variant rs137852752 [ dbSNP | Ensembl ].
    VAR_033111
    Pulmonary venoocclusive disease 1, autosomal dominant (PVOD1) [MIM:265450]: A 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

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

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2626Sequence AnalysisAdd
    BLAST
    Chaini27 – 10381012Bone morphogenetic protein receptor type-2PRO_0000024415Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi34 ↔ 66By similarity
    Glycosylationi55 – 551N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi94 ↔ 117By similarity
    Glycosylationi110 – 1101N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi126 – 1261N-linked (GlcNAc...)Sequence Analysis
    Modified residuei379 – 3791Phosphothreonine1 Publication
    Modified residuei586 – 5861Phosphoserine1 Publication

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ13873.
    PaxDbiQ13873.
    PRIDEiQ13873.

    PTM databases

    PhosphoSiteiQ13873.

    Expressioni

    Tissue specificityi

    Highly expressed in heart and liver.

    Gene expression databases

    ArrayExpressiQ13873.
    BgeeiQ13873.
    CleanExiHS_BMPR2.
    GenevestigatoriQ13873.

    Organism-specific databases

    HPAiHPA017385.

    Interactioni

    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

    Protein-protein interaction databases

    BioGridi107127. 50 interactions.
    DIPiDIP-5794N.
    IntActiQ13873. 33 interactions.
    MINTiMINT-124272.
    STRINGi9606.ENSP00000363708.

    Structurei

    Secondary structure

    1
    1038
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi33 – 353
    Turni42 – 476
    Helixi48 – 503
    Turni53 – 564
    Beta strandi57 – 593
    Beta strandi66 – 738
    Beta strandi76 – 849
    Beta strandi90 – 923
    Turni105 – 1095
    Beta strandi113 – 1186
    Helixi123 – 1253
    Beta strandi202 – 21110
    Beta strandi213 – 22210
    Beta strandi225 – 2339
    Helixi234 – 2363
    Helixi237 – 24711
    Beta strandi260 – 2678
    Beta strandi273 – 2797
    Helixi287 – 2937
    Helixi298 – 31619
    Helixi322 – 3243
    Beta strandi338 – 3414
    Beta strandi347 – 3493
    Beta strandi359 – 3624
    Helixi380 – 3823
    Helixi385 – 3884
    Helixi394 – 3963
    Helixi397 – 41721
    Helixi421 – 4233
    Helixi437 – 4404
    Helixi446 – 4538
    Helixi471 – 48313
    Helixi488 – 4903
    Helixi494 – 50613

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2HLQX-ray1.45A33-131[»]
    3G2FX-ray2.35A/B189-517[»]
    ProteinModelPortaliQ13873.
    SMRiQ13873. Positions 33-131, 197-510.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ13873.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini27 – 150124ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini172 – 1038867CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei151 – 17121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini203 – 504302Protein kinasePROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi547 – 5504Poly-Ser
    Compositional biasi610 – 6189Poly-Thr
    Compositional biasi901 – 9088Poly-Asn

    Sequence similaritiesi

    Contains 1 protein kinase domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0515.
    HOGENOMiHOG000043088.
    HOVERGENiHBG050705.
    InParanoidiQ13873.
    KOiK04671.
    OMAiDHYKPAI.
    OrthoDBiEOG7JHM5B.
    PhylomeDBiQ13873.
    TreeFamiTF314724.

    Family and domain databases

    InterProiIPR000472. Activin_rcpt.
    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. Align

    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

    MTSSLQRPWR VPWLPWTILL VSTAAASQNQ ERLCAFKDPY QQDLGIGESR     50
    ISHENGTILC SKGSTCYGLW EKSKGDINLV KQGCWSHIGD PQECHYEECV 100
    VTTTPPSIQN GTYRFCCCST DLCNVNFTEN FPPPDTTPLS PPHSFNRDET 150
    IIIALASVSV LAVLIVALCF GYRMLTGDRK QGLHSMNMME AAASEPSLDL 200
    DNLKLLELIG RGRYGAVYKG SLDERPVAVK VFSFANRQNF INEKNIYRVP 250
    LMEHDNIARF IVGDERVTAD GRMEYLLVME YYPNGSLCKY LSLHTSDWVS 300
    SCRLAHSVTR GLAYLHTELP RGDHYKPAIS HRDLNSRNVL VKNDGTCVIS 350
    DFGLSMRLTG NRLVRPGEED NAAISEVGTI RYMAPEVLEG AVNLRDCESA 400
    LKQVDMYALG LIYWEIFMRC TDLFPGESVP EYQMAFQTEV GNHPTFEDMQ 450
    VLVSREKQRP KFPEAWKENS LAVRSLKETI EDCWDQDAEA RLTAQCAEER 500
    MAELMMIWER NKSVSPTVNP MSTAMQNERN LSHNRRVPKI GPYPDYSSSS 550
    YIEDSIHHTD SIVKNISSEH SMSSTPLTIG EKNRNSINYE RQQAQARIPS 600
    PETSVTSLST NTTTTNTTGL TPSTGMTTIS EMPYPDETNL HTTNVAQSIG 650
    PTPVCLQLTE EDLETNKLDP KEVDKNLKES SDENLMEHSL KQFSGPDPLS 700
    STSSSLLYPL IKLAVEATGQ QDFTQTANGQ ACLIPDVLPT QIYPLPKQQN 750
    LPKRPTSLPL NTKNSTKEPR LKFGSKHKSN LKQVETGVAK MNTINAAEPH 800
    VVTVTMNGVA GRNHSVNSHA ATTQYANGTV LSGQTTNIVT HRAQEMLQNQ 850
    FIGEDTRLNI NSSPDEHEPL LRREQQAGHD EGVLDRLVDR RERPLEGGRT 900
    NSNNNNSNPC SEQDVLAQGV PSTAADPGPS KPRRAQRPNS LDLSATNVLD 950
    GSSIQIGEST QDGKSGSGEK IKKRVKTPYS LKRWRPSTWV ISTESLDCEV 1000
    NNNGSNRAVH SKSSTAVYLA EGGTATTMVS KDIGMNCL 1038
    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)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti828 – 8281G → R in CAA88759. (PubMed:7644468)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti60 – 601C → Y in PPH1. 1 Publication
    VAR_013670
    Natural varianti82 – 821Q → H in PPH1. 1 Publication
    VAR_033109
    Natural varianti117 – 1171C → Y in PPH1. 1 Publication
    VAR_013671
    Natural varianti118 – 1181C → W in PPH1. 1 Publication
    VAR_013672
    Natural varianti123 – 1231C → R in PPH1. 1 Publication
    VAR_013673
    Natural varianti123 – 1231C → S in PPH1. 1 Publication
    VAR_013674
    Natural varianti182 – 1821G → D in PPH1. 1 Publication
    VAR_033110
    Natural varianti224 – 2241E → D.1 Publication
    VAR_013675
    Natural varianti347 – 3471C → Y in PPH1. 1 Publication
    VAR_013676
    Natural varianti420 – 4201C → R in PPH1. 1 Publication
    VAR_013677
    Natural varianti483 – 4831C → R in PPH1; sporadic. 2 Publications
    VAR_013678
    Natural varianti485 – 4851D → G in PPH1; complete loss of function. 1 Publication
    VAR_013679
    Natural varianti491 – 4911R → Q in PPH1; sporadic. 1 Publication
    VAR_013680
    Natural varianti491 – 4911R → W in PPH1. 1 Publication
    VAR_013681
    Natural varianti512 – 5121K → T in PPH1. 1 Publication
    VAR_013682
    Natural varianti519 – 5191N → K in PPH1.
    VAR_013683
    Natural varianti775 – 7751S → N.1 Publication
    Corresponds to variant rs2228545 [ dbSNP | Ensembl ].
    VAR_019996
    Natural varianti899 – 8991R → P in PPH1; leads to constitutive activation of the MAPK14 pathway. 1 Publication
    Corresponds to variant rs137852752 [ dbSNP | Ensembl ].
    VAR_033111

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei530 – 5301N → R in isoform 2. 2 PublicationsVSP_054441
    Alternative sequencei531 – 1038508Missing in isoform 2. 2 PublicationsVSP_054442Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.4. human. [Q13873-1]
    uc010ftr.3. human.

    Polymorphism databases

    DMDMi12643724.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    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. Positions 33-131, 197-510.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107127. 50 interactions.
    DIPi DIP-5794N.
    IntActi Q13873. 33 interactions.
    MINTi MINT-124272.
    STRINGi 9606.ENSP00000363708.

    Chemistry

    BindingDBi Q13873.
    ChEMBLi CHEMBL5467.
    GuidetoPHARMACOLOGYi 1794.

    PTM databases

    PhosphoSitei Q13873.

    Polymorphism databases

    DMDMi 12643724.

    Proteomic databases

    MaxQBi Q13873.
    PaxDbi Q13873.
    PRIDEi Q13873.

    Protocols and materials databases

    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.4. human. [Q13873-1 ]
    uc010ftr.3. human.

    Organism-specific databases

    CTDi 659.
    GeneCardsi GC02P203205.
    GeneReviewsi BMPR2.
    HGNCi HGNC:1078. BMPR2.
    HPAi HPA017385.
    MIMi 178600. phenotype.
    265450. phenotype.
    600799. gene.
    neXtProti NX_Q13873.
    Orphaneti 275777. Heritable pulmonary arterial hypertension.
    275766. Idiopathic pulmonary arterial hypertension.
    31837. Pulmonary venoocclusive disease.
    PharmGKBi PA25388.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0515.
    HOGENOMi HOG000043088.
    HOVERGENi HBG050705.
    InParanoidi Q13873.
    KOi K04671.
    OMAi DHYKPAI.
    OrthoDBi EOG7JHM5B.
    PhylomeDBi Q13873.
    TreeFami TF314724.

    Enzyme and pathway databases

    Reactomei REACT_12034. Signaling by BMP.
    SignaLinki Q13873.

    Miscellaneous databases

    ChiTaRSi BMPR2. human.
    EvolutionaryTracei Q13873.
    GeneWikii BMPR2.
    GenomeRNAii 659.
    NextBioi 2680.
    PROi Q13873.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q13873.
    Bgeei Q13873.
    CleanExi HS_BMPR2.
    Genevestigatori Q13873.

    Family and domain databases

    InterProi IPR000472. Activin_rcpt.
    IPR015770. BMPR2.
    IPR011009. Kinase-like_dom.
    IPR000719. Prot_kinase_dom.
    IPR017441. Protein_kinase_ATP_BS.
    IPR000333. TGFB_receptor.
    [Graphical view ]
    PANTHERi PTHR23255. PTHR23255. 1 hit.
    PTHR23255:SF63. PTHR23255:SF63. 1 hit.
    Pfami PF01064. Activin_recp. 1 hit.
    PF00069. Pkinase. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56112. SSF56112. 1 hit.
    PROSITEi PS00107. PROTEIN_KINASE_ATP. 1 hit.
    PS50011. PROTEIN_KINASE_DOM. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human type II receptor for bone morphogenic proteins (BMPs): extension of the two-kinase receptor model to the BMPs."
      Liu F., Ventura F., Doody J., Massague J.
      Mol. Cell. Biol. 15:3479-3486(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING.
      Tissue: Kidney.
    2. "Cloning and characterization of a human type II receptor for bone morphogenetic proteins."
      Rosenzweig B.L., Imamura T., Okadome T., Cox G.N., Yamashita H., ten Dijke P., Heldin C., Miyazono K.
      Proc. Natl. Acad. Sci. U.S.A. 92:7632-7636(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Substantia nigra.
    3. "Identification of a human type II receptor for bone morphogenetic protein-4 that forms differential heteromeric complexes with bone morphogenetic protein type I receptors."
      Nohno T., Ishikawa T., Saito T., Hosokawa K., Noji S., Wosing D.H., Rosenbaum J.S.
      J. Biol. Chem. 270:22522-22526(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Skin fibroblast.
    4. "Cloning of a novel type II serine/threonine kinase receptor through interaction with the type I transforming growth factor-beta receptor."
      Kawabata M., Chytil A., Moses H.L.
      J. Biol. Chem. 270:5625-5630(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    5. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Skin.
    8. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-586, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-379, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. "Crystal structure of the BMPR2 kinase domain."
      Structural genomics consortium (SGC)
      Submitted (FEB-2009) to the PDB data bank
      Cited for: X-RAY CRYSTALLOGRAPHY (2.35 ANGSTROMS) OF 189-517 IN COMPLEX WITH ADP.
    11. "Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene."
      Deng Z., Morse J.H., Slager S.L., Cuervo N., Moore K.J., Venetos G., Kalachikov S., Cayanis E., Fischer S.G., Barst R.J., Hodge S.E., Knowles J.A.
      Am. J. Hum. Genet. 67:737-744(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PPH1 GLN-491 AND TRP-491.
    12. "Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family."
      Thomson J.R., Machado R.D., Pauciulo M.W., Morgan N.V., Humbert M., Elliott G.C., Ward K., Yacoub M., Mikhail G., Rogers P., Newman J.H., Wheeler L., Higenbottam T., Gibbs J.S.R., Egan J., Crozier A., Peacock A., Allcock R.
      , Corris P., Loyd J.E., Trembath R.C., Nichols W.C.
      J. Med. Genet. 37:741-745(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PPH1 TYR-60; TYR-117 AND ARG-483.
    13. Cited for: VARIANTS PPH1 TRP-118; TYR-347 AND GLY-485.
    14. Cited for: VARIANTS PPH1 ARG-123; SER-123; ARG-420 AND THR-512, VARIANT ASP-224, CHARACTERIZATION OF VARIANT PPH1 GLY-485.
    15. "BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives."
      Humbert M., Deng Z., Simonneau G., Barst R.J., Sitbon O., Wolf M., Cuervo N., Moore K.J., Hodge S.E., Knowles J.A., Morse J.H.
      Eur. Respir. J. 20:518-523(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PPH1 HIS-82; ASP-182 AND ARG-483.
    16. "Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II."
      Runo J.R., Vnencak-Jones C.L., Prince M., Loyd J.E., Wheeler L., Robbins I.M., Lane K.B., Newman J.H., Johnson J., Nichols W.C., Phillips J.A. III
      Am. J. Respir. Crit. Care Med. 167:889-894(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN PVOD1.
    17. Cited for: VARIANT PPH1 PRO-899, CHARACTERIZATION OF VARIANT PPH1 PRO-899.
    18. Cited for: INVOLVEMENT IN PVOD1.
    19. "Patterns of somatic mutation in human cancer genomes."
      Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.
      , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
      Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT [LARGE SCALE ANALYSIS] ASN-775.

    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: October 1, 2014
    This is version 165 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

    External Data

    Dasty 3