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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BMPR2 Gene

protein-coding   GIFtS: 71
GCID: GC02P203205

Bone Morphogenetic Protein Receptor, Type II (Serine/Threonine...

(Previous name: primary pulmonary hypertension 1)
(Previous symbol: PPH1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Bone Morphogenetic Protein Receptor, Type II (Serine/Threonine
Kinase)1 2
     BMPR32
PPH11 2 3 5     BMR22
Bone Morphogenetic Protein Receptor Type II2 3     BRK-32
BMPR-22 3     T-ALK2
BMPR-II2 3     Bone Morphogenetic Protein Receptor Type-22
BMP Type II Receptor2 3     Type II Activin Receptor-Like Kinase2
BMP Type-2 Receptor2 3     Type II Receptor For Bone Morphogenetic Protein-42
EC 2.7.11.303 8     EC 2.7.118
Primary Pulmonary Hypertension 11     

External Ids:    HGNC: 10781   Entrez Gene: 6592   Ensembl: ENSG000002042177   OMIM: 6007995   UniProtKB: Q138733   

Export aliases for BMPR2 gene to outside databases

Previous GC identifers: GC02P201458 GC02P201966 GC02P203444 GC02P203067 GC02P202950 GC02P195088


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BMPR2 Gene:
This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane
serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily.
BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals
through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors:
type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the
absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I
receptors require their respective type II receptors for ligand binding. Mutations in this gene have been
associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary
venoocclusive disease. (provided by RefSeq, Jul 2008)

GeneCards Summary for BMPR2 Gene: 
BMPR2 (bone morphogenetic protein receptor, type II (serine/threonine kinase)) is a protein-coding gene. Diseases associated with BMPR2 include hypertension, and primary pulmonary hypertension, and among its related super-pathways are BMP signalling and regulation and STAT3 Pathway. GO annotations related to this gene include activin receptor activity, type II and transforming growth factor beta-activated receptor activity. An important paralog of this gene is ACVR1C.

UniProtKB/Swiss-Prot: BMPR2_HUMAN, Q13873
Function: 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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BMPR2 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BMPR2 promoter sequence
   Search SABiosciences Chromatin IP Primers for BMPR2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BMPR2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q33-q34   Ensembl cytogenetic band:  2q33.1   HGNC cytogenetic band: 2q33-q34

BMPR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BMPR2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P203205:  view genomic region     (about GC identifiers)

Start:
203,241,050 bp from pter      End:
203,432,474 bp from pter
Size:
191,425 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BMPR2_HUMAN, Q13873 (See protein sequence)
Recommended Name: Bone morphogenetic protein receptor type-2 precursor  
Size: 1038 amino acids; 115201 Da
Cofactor: Magnesium or manganese (By similarity)
Subcellular location: Membrane; Single-pass type I membrane protein
2 PDB 3D structures from and Proteopedia for BMPR2:
2HLQ (3D)        3G2F (3D)    
Secondary accessions: Q16569 Q4ZG08 Q53SA5 Q585T8

Explore the universe of human proteins at neXtProt for BMPR2: NX_Q13873

Explore proteomics data for BMPR2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13873

  • 3 DME Specific Peptides for BMPR2 (Q13873)
     YMAPEVL  EARLTAQC  RYMAPEVL 

    BMPR2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BMPR2 Protein Expression
    REFSEQ proteins: NP_001195.2  
    ENSEMBL proteins: 
     ENSP00000363708   ENSP00000363702  
    Reactome Protein details: Q13873
    Human Recombinant Protein Products for BMPR2: 
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    Sino Biological Cell Lysate for BMPR2 
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    Cloud-Clone Corp. Proteins for BMPR2 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IDA12045205
    GO:0005901colocalizes with caveola IMP15657086
    GO:0009986cell surface IEA--
    GO:0016020membrane ----

    BMPR2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: bone morphogenetic protein receptor, type II (serine/threonine kinase) 
    Type II receptor serine/threonine kinases
    Type II subfamily

    5 InterPro protein domains:
     IPR017441 Protein_kinase_ATP_BS
     IPR015770 BMPRII
     IPR011009 Kinase-like_dom
     IPR000472 Activin_rcpt
     IPR000719 Prot_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry Q13873

    ProtoNet protein and cluster: Q13873

    1 Blocks protein domain: IPB000472 Domain in TGF-beta receptor/activin receptor

    UniProtKB/Swiss-Prot: BMPR2_HUMAN, Q13873
    Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily
    Similarity: Contains 1 protein kinase domain


    BMPR2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BMPR2_HUMAN, Q13873
    Function: 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 activity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphate

         Genatlas biochemistry entry for BMPR2:
    bone morphogenetic protein receptor,type 2,TGFBR superfamily

         Enzyme Numbers (IUBMB): EC 2.7.11.301 2 EC 2.7.112

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004675transmembrane receptor protein serine/threonine kinase activity ----
    GO:0004713protein tyrosine kinase activity ----
    GO:0005024transforming growth factor beta-activated receptor activity IEA--
    GO:0005515protein binding IPI12045205
         
    BMPR2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for BMPR2:
     Decreased CYP1A1 activity afte  Decreased substrate adherent c  Decreased viability 

         11 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Bmpr2):
     cardiovascular system  cellular  embryogenesis  growth/size  homeostasis/metabolism 
     immune system  mortality/aging  muscle  normal  respiratory system 
     skeleton 

    BMPR2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for BMPR2: Bmpr2tm1Kmi Bmpr2tm1.2Enl Bmpr2tm1Kml

       inGenious Targeting Laboratory - Custom generated mouse model solutions for BMPR2 
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BMPR2
    8/188 QIAGEN miScript miRNA Assays for microRNAs that regulate BMPR2 (see all 188):
    hsa-miR-640 hsa-miR-520f hsa-miR-361-5p hsa-miR-376b hsa-miR-106a hsa-miR-128 hsa-miR-3074-3p hsa-miR-3653
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BMPR2 About   (see all 20)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Signaling by BMP
    Signaling by BMP0.35
    BMP receptor signaling0.31
    BMP signalling and regulation0.35
    2PEDF Induced Signaling
    STAT3 Pathway0.47
    Cytokine-cytokine receptor interaction0.43
    3Akt Signaling
    Akt Signaling0.60
    Tec Kinases Signaling0.55
    p38 Signaling0.60
    4Human Embryonic Stem Cell Pluripotency
    Human Embryonic Stem Cell Pluripotency0.50
    Factors Promoting Cardiogenesis in Vertebrates0.50
    5PAK Pathway
    Antioxidant Action of Vitamin-C0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/11 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for BMPR2 (see all 11)
        STAT3 Pathway
    Factors Promoting Cardiogenesis in Vertebrates
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    Tec Kinases Signaling

    1 Cell Signaling Technology (CST) Pathway for BMPR2
        TGF-beta/Smad Signaling

    5/7 BioSystems Pathways for BMPR2 (see all 7)
        Heart Development
    BMP signalling and regulation
    Integrated Breast Cancer Pathway
    Id Signaling Pathway
    BMP receptor signaling

    1 Sino Biological Pathway for BMPR2 
        TGF-beta Signaling Pathway

    2        Reactome Pathways for BMPR2
        Signal Transduction
    Signaling by BMP


    4         Kegg Pathways  (Kegg details for BMPR2):
        Cytokine-cytokine receptor interaction
    TGF-beta signaling pathway
    Hippo signaling pathway
    MicroRNAs in cancer


    BMPR2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BMPR2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/109 Interacting proteins for BMPR2 (Q138731, 2, 3 ENSP000003637084) via UniProtKB, MINT, STRING, and/or I2D (see all 109)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GDF5P430262, 3, ENSP000003634894MINT-7264614 MINT-7264626 MINT-7264638 MINT-7264601 I2D: score=4 STRING: ENSP00000363489
    PRKG1Q139762, 3, ENSP000003630924MINT-7289555 MINT-7289591 I2D: score=2 STRING: ENSP00000363092
    MAPK8P459832, 3, ENSP000003534834MINT-8262275 I2D: score=2 STRING: ENSP00000353483
    ENSG00000183311P074373I2D: score=1 
    ENSG00000224156P074373I2D: score=1 
    About this table

    Gene Ontology (GO): 5/29 biological process terms (GO ID links to tree view) (see all 29):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001707mesoderm formation ISS--
    GO:0001934positive regulation of protein phosphorylation ----
    GO:0001938positive regulation of endothelial cell proliferation IMP17992660
    GO:0001946lymphangiogenesis ISS--
    GO:0001974blood vessel remodeling ISS--

    BMPR2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BMPR2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for BMPR2

    4 HMDB Compounds for BMPR2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--

    10/13 Novoseek inferred chemical compound relationships for BMPR2 gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    threonine 60.1 7 16155937 (1), 7791754 (1), 17030903 (1), 10051328 (1) (see all 6)
    monocrotaline 58.5 2 17142350 (1), 17336165 (1)
    serine 42.8 6 16155937 (1), 7791754 (1), 17030903 (1), 11889196 (1) (see all 5)
    thymidine 17.1 2 11327700 (1), 12419820 (1)
    lipid 5.49 3 17141153 (1), 16271518 (1)
    oxygen 0 1 19844076 (1)
    nitric oxide 0 2 19844076 (2)
    progesterone 0 1 12419820 (1)
    tyrosine 0 3 16155937 (1), 17942918 (1)
    mannose 0 1 16615932 (1)

    Search CenterWatch for drugs/clinical trials and news about BMPR2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for BMPR2 gene (2 alternative transcripts): 
    NM_001204.6  NM_033346.2  

    Unigene Cluster for BMPR2:

    Bone morphogenetic protein receptor, type II (serine/threonine kinase)
    Hs.471119  [show with all ESTs]
    Unigene Representative Sequence: NM_001204
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374580(uc002uze.3 uc002uzf.4 uc010ftr.3) ENST00000374574
    ENST00000479069
    miRNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BMPR2

    Additional mRNA sequence: 

    AK023426.1 AK093832.1 AK123579.1 AK292430.1 AY277593.1 BC018743.1 BC032011.1 BC035097.1 
    BC041039.1 BC043650.2 BC052985.2 D50516.1 U20165.1 Z48923.1 

    14 DOTS entries:

    DT.217004  DT.100821370  DT.97792822  DT.100821367  DT.100028666  DT.101977111  DT.97793671  DT.100821368 
    DT.100668347  DT.120940969  DT.120941035  DT.101964389  DT.95290693  DT.99999704 

    24/321 AceView cDNA sequences (see all 321):

    AA053300 AA322194 BM669872 AA600266 AK093832 AU119942 AI459819 CB216806 
    AA463575 AW184020 AI201821 AA593597 AI687923 BE138764 AA826587 BQ575167 
    AI628210 CA435442 AL134551 BX282427 AI243204 BM905258 BM702018 AI971946 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BMPR2 expression in normal human tissues (normalized intensities)      BMPR2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTTTCTGA
    BMPR2 Expression
    About this image


    BMPR2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Cumulus Cells Antral Follicle
             oocyte   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             posterior singulate   
     
     Smooth Muscle (Muscoskeletal System)
             Pulmonary Vascular Smooth Muscle Cells Pulmonary Capillary Plexus
     
     Lung (Respiratory System)
             Pulmonary Vascular Smooth Muscle Cells Pulmonary Capillary Plexus

    See BMPR2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BMPR2

    SOURCE GeneReport for Unigene cluster: Hs.471119

    UniProtKB/Swiss-Prot: BMPR2_HUMAN, Q13873
    Tissue specificity: Highly expressed in heart and liver

        SABiosciences Expression via Pathway-Focused PCR Arrays including BMPR2: 
              Osteogenesis in human mouse rat
              Hypertension in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for BMPR2 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bmpr21 , 5 bone morphogenic protein receptor, type II (serine/threonine more5
    bone morphogenetic protein receptor, type II (serine/threonine more1
    91.62(n)1
    96.63(a)1
      1 (30.44 cM)5
    121681  NM_007561.31  NP_031587.11 
     597646375 
    chicken
    (Gallus gallus)
    Aves BMPR21 bone morphogenetic protein receptor, type II (serine/threonine more 81.38(n)
    90.46(a)
      374147  NM_001001465.1  NP_001001465.1 
    lizard
    (Anolis carolinensis)
    Reptilia BMPR26
    Uncharacterized protein
    83(a)
    1 ↔ 1
    GL343208.1(3653269-3750013)
    African clawed frog
    (Xenopus laevis)
    Amphibia XBMPR-II2 BMP type II receptor 76.74(n)    U81958.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bmpr2b1 bone morphogenetic protein receptor, type II b (serine/threonine more 68.06(n)
    74.36(a)
      555655  NM_001039807.1  NP_001034896.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta wit3 neuromuscular junction development
    protein kinase
    37(a)   64A5   --
    worm
    (Caenorhabditis elegans)
    Secernentea daf-46
    daf-16
    (see all 3)
    Cell surface receptor daf-1
    (see all 3)
    18(a)
    17(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    III(5625014-5632319)
    IV(132416-138076)


    ENSEMBL Gene Tree for BMPR2 (if available)
    TreeFam Gene Tree for BMPR2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BMPR2 gene
    ACVR1C2  TGFBR22  AMHR22  ACVR2B2  ACVR2A2  TGFBR12  ACVR1B2  BMPR1A2  
    ACVR12  ACVRL12  BMPR1B2  
    7 SIMAP similar genes for BMPR2 using alignment to 2 protein entries:     BMPR2_HUMAN (see all proteins):
    ACVR2B    AMHR2    ACVR2A    BMPR1B    TGFBR1    ACVR1
    TGFBR2

    BMPR2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3335 SNPs in BMPR2 are shown (see all 3335)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0136764
    Primary pulmonary hypertension (PPH1)4--see VAR_0136762 C Y mis40--------
    VAR_0136734
    Primary pulmonary hypertension (PPH1)4--see VAR_0136732 C R mis40--------
    VAR_0136714
    Primary pulmonary hypertension (PPH1)4--see VAR_0136712 C Y mis40--------
    VAR_0136824
    Primary pulmonary hypertension (PPH1)4--see VAR_0136822 K T mis40--------
    VAR_0136744
    Primary pulmonary hypertension (PPH1)4--see VAR_0136742 C S mis40--------
    VAR_0331104
    Primary pulmonary hypertension (PPH1)4--see VAR_0331102 G D mis40--------
    VAR_0136814
    Primary pulmonary hypertension (PPH1)4--see VAR_0136812 R W mis40--------
    VAR_0136704
    Primary pulmonary hypertension (PPH1)4--see VAR_0136702 C Y mis40--------
    VAR_0136794
    Primary pulmonary hypertension (PPH1)4--see VAR_0136792 D G mis40--------
    VAR_0136724
    Primary pulmonary hypertension (PPH1)4--see VAR_0136722 C W mis40--------

    HapMap Linkage Disequilibrium report for BMPR2 (203241050 - 203432474 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/22 variations for BMPR2 (see all 22):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv754e199CNV Deletion23128226
    esv2674261CNV Deletion23128226
    nsv471519CNV Deletion19718026
    esv2721369CNV Deletion23290073
    esv2556143CNV Deletion19546169
    esv2421826CNV Deletion20811451
    esv2635288CNV Insertion19546169
    dgv65n17CNV Loss16327808
    nsv433209CNV Loss18776910
    nsv10211CNV Loss18304495


    Human Gene Mutation Database (HGMD): BMPR2

    Locus Specific Mutation Databases (LSDB): BMPR2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600799   
    OMIM disorders: 178600  265450  
    UniProtKB/Swiss-Prot: BMPR2_HUMAN, Q13873
  • Primary pulmonary hypertension (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 PPH1 is rare, cases secondary to known
    etiologies are more common and include those associated with the appetite-suppressant drugs. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Pulmonary venoocclusive disease (PVOD) [MIM:265450]: Rare form of pulmonary hypertension in which the
    vascular changes originate in the small pulmonary veins and venules. The pathogenesis is unknown and any link
    with PPH1 has been speculative. The finding of PVOD associated with a BMPR2 mutation reveals a possible
    pathogenetic connection with PPH1. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 20/45 diseases for BMPR2 (see all 45):    About MalaCards
    hypertension    primary pulmonary hypertension    heritable pulmonary arterial hypertension    pulmonary hypertension, primary, fenfluramine-associated
    pulmonary venoocclusive disease    mixed connective tissue disease    eisenmenger syndrome    telangiectasis
    hereditary hemorrhagic telangiectasia    chronic thromboembolic pulmonary hypertension    connective tissue disease    bladder transitional cell carcinoma
    transitional cell carcinoma    hepatopulmonary syndrome    osteonecrosis    pandas
    portal hypertension    glycogen storage disease    vascular disease    sickle cell disease

    4 diseases from the University of Copenhagen DISEASES database for BMPR2:
    Cor pulmonale     Hypertension     Hereditary hemorrhagic telangiectasia     Pulmonary venoocclusive disease

    BMPR2 for disorders           About GeneDecksing

    10/36 Novoseek inferred disease relationships for BMPR2 gene (see all 36)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    primary pulmonary hypertension 89.8 53 11484688 (3), 11940546 (2), 14985116 (2), 14583445 (2) (see all 33)
    hypertension arterial 87.3 119 18496036 (5), 16357305 (3), 12415595 (3), 16728714 (2) (see all 73)
    hypertension pulmonary 77.9 34 12571257 (4), 11940546 (2), 19390056 (2), 15286002 (2) (see all 25)
    telangiectasia hereditary hemorrhagic 77.4 9 18792970 (2), 19366699 (1), 19502096 (1), 19555857 (1) (see all 6)
    telangiectasia 55.6 3 19357124 (1), 15065824 (1)
    pulmonary hypertension secondary 53.5 2 11940546 (1)
    germ-line mutation 42.1 2 15918053 (1), 17030903 (1)
    connective tissue diseases 36 4 12384956 (1), 15509626 (1), 14516151 (1), 15049592 (1)
    vascular diseases 31.9 5 19321386 (1), 14583445 (1), 14684682 (1), 18321866 (1) (see all 5)
    genetic hypertension 29.9 1 15049592 (1)

    GeneTests: BMPR2
    GeneReviews: BMPR2
    Genetic Association Database (GAD): BMPR2
    Human Genome Epidemiology (HuGE) Navigator: BMPR2 (33 documents)

    Export disorders for BMPR2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BMPR2 gene, integrated from 9 sources (see all 316):
    (articles sorted by number of sources associating them with BMPR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. (PubMed id 12358323)1, 2, 4, 9 Humbert M.... Morse J.H. (2002)
    2. BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. (PubMed id 15965979)1, 2, 4, 9 Sankelo M.... Laitinen T. (2005)
    3. Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension. (PubMed id 16717148)1, 4, 9 Elliott C.G....Ward K. (2006)
    4. Sequence Variants in BMPR2 and Genes Involved in the Serotonin and Nitric Oxide Pathways in Idiopathic Pulmonary Arterial Hypertensi on and Chronic Thromboembolic Pulmonary Hypertension: Relation to Clinical Para meters and Comparison with Left Heart Disease. (PubMed id 19844076)1, 4, 9 Ulrich S....Speich R. (2009)
    5. BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. (PubMed id 11115378)1, 2, 9 Machado R.D.... Nichols W.C. (2001)
    6. Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation. (PubMed id 18356561)1, 4, 9 Sztrymf B....Humbert M. (2008)
    7. Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension. (PubMed id 18496036)1, 4, 9 Phillips J.A....Loyd J.E. (2008)
    8. Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. (PubMed id 10903931)1, 2, 9 Deng Z....Knowles J.A. (2000)
    9. Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF- beta family. (PubMed id 11015450)1, 2, 9 Thomson J.R....Nichols W.C. (2000)
    10. Human type II receptor for bone morphogenic proteins (BMPs): extension of the two-kinase receptor model to the BMPs. (PubMed id 7791754)1, 3, 9 Liu F.... Massague J. (1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 659 HGNC: 1078 AceView: BMPR2 Ensembl:ENSG00000204217 euGenes: HUgn659
    ECgene: BMPR2 Kegg: 659 H-InvDB: BMPR2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BMPR2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BMPR2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BMPR2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BMPR2 gene:
    Search GeneIP for patents involving BMPR2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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