BMPR2 Gene
protein-coding GIFtS : 70
GCID: GC02 P203205
bone morphogenetic protein receptor, type II (serine/threonine... (Previous name: primary pulmonary hypertension 1 ) (Previous symbol: PPH1 )
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Aliasesfor BMPR2 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Bone Morphogenetic Protein Receptor, Type II (Serine/Threonine Kinase) 1 2 BMP Type-2 Receptor2 3 PPH11 2 3 5 EC 2.7.11.303 8 BMPR-II1 2 3 Primary Pulmonary Hypertension 11 BMPR31 2 BMR22 BRK-31 2 Bone Morphogenetic Protein Receptor Type-22 T-ALK1 2 Type II Activin Receptor-Like Kinase2 Bone Morphogenetic Protein Receptor Type II2 3 Type II Receptor For Bone Morphogenetic Protein-42 BMPR-22 3 EC 2.7.118 BMP Type II Receptor2 3
Export aliases for BMPR2 gene to outside databases Previous GC identifers: GC02P201458 GC02P201966 GC02P203444 GC02P203067 GC02P202950 GC02P195088
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Summariesfor BMPR2 gene (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 : 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) UniProtKB/Swiss-Prot: BMPR2_HUMAN, Q13873 Function : On ligand binding, forms a receptor complex consisting of two type II and two type I transmembraneserine/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
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Genomic Viewsfor BMPR2 gene
(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 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000002.11 NC_018913.1 NT_005403.17 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the BMPR2 gene promoter: AML1a Other transcription factors 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) 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
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Proteinsfor BMPR2 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
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
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
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 Q585T8Explore the universe of human proteins at neXtProt for BMPR2: NX_Q13873 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q13873 3 DME Specific Peptides for BMPR2 (Q13873 ) BMPR2 Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins: NP_001195.2 ENSEMBL proteins: ENSP00000363708 ENSP00000363702 Reactome Protein details: Q13873 Human Recombinant Protein Products for BMPR2: Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9 ): About this table
BMPR2 for ontologies About GeneDecksing BMPR2 Antibody Products: Assay Products for BMPR2:
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Protein
Domains / Familiesfor BMPR2 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
BMPR2 for domains About GeneDecksing 5 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q13873 ProtoNet protein and cluster: Q13873
1 Blocks protein family : 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 subfamilySimilarity : Contains 1 protein kinase domain
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Functionfor BMPR2 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory ,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase ,
shRNA from
OriGene ,
Sirion Biotech ,
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 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
Sirion Biotech ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 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 transmembraneserine/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 2.7.11.30 1 2 EC 2.7.11 2 Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0004675 transmembrane receptor protein serine/threonine kinase activity
-- -- GO:0005024 transforming growth factor beta-activated receptor activity
IEA -- GO:0005515 protein binding
IPI 15657086 GO:0005524 ATP binding
IEA -- GO:0016362 activin receptor activity, type II
TAS --
BMPR2 for ontologies About GeneDecksing Phenotypes: 3 GenomeRNAi human phenotypes for BMPR2 : 11 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Bmpr2) :
BMPR2 for phenotypes About GeneDecksing Animal Models: Mouse knock-outs for BMPR2: Bmpr2 tm1Kmi Bmpr2 tm1.2Enl Bmpr2 tm1Kml Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for BMPR2 (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for BMPR2OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: BMPR2 (NM_001204 ) Sino Biological Human cDNA Clone for BMPR2 DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BMPR2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat BMPR2
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMPR2
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Pathways & Interactionsfor BMPR2 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/17 super-pathways (see all 17 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Signaling by BMP 2 Akt Signaling 3 Human Embryonic Stem Cell Pluripotency 4 PEDF Induced Signaling 5 TGF-beta/Smad Signaling
Pathway sources See GeneCards unified pathways Show all pathways 5/11 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for BMPR2 (see all 11 )1
Cell Signaling Technology (CST) Pathway for BMPR2 5/7 BioSystems Pathways for BMPR2 (see all 7 ) 2
Reactome Pathways for BMPR2 2
Kegg Pathways (Kegg details for BMPR2) :
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)5/100 Interacting proteins for BMPR2 (Q13873 1 , 2 , 3 ENSP00000363708 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 100 )About this table Gene Ontology (GO): 5/30 biological process terms (GO ID links to tree view) (see all 30 ): About this table
BMPR2 for ontologies About GeneDecksing
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Drugs & Compoundsfor BMPR2 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , 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 Tocris compounds for BMPR2 4 HMDB Compounds for BMPR2 About this table 10/13 Novoseek 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
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Transcriptsfor BMPR2 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
Sirion Biotech ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)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 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for BMPR2 (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for BMPR2OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: BMPR2 (NM_001204 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BMPR2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat BMPR2
Additional cDNA 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 ):
BG171838 BM801712 BX112571 AI971946 D50516 AA600266 AL707387 BX282427 AA687598 BM905258 AK093832 BF222139 BI916088 AI628210 AL699284 BQ445814 U20165 AU140876 BQ311824 BQ286081 AW117996 CB218558 BQ025734 D62712 GeneLoc Exon Structure
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Expression for BMPR2 gene
(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) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: CTTTTTCTGAAbout this image BMPR2 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table
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 : Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for BMPR2Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat BMPR2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat BMPR2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat BMPR2 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMPR2
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Orthologsfor BMPR2 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl 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 5/16 species (see all 16 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
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
--
83(a)
1 ↔ 1
GL343208.1(3653269-3704233)
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 --
ENSEMBL Gene Tree for BMPR2 (if available)TreeFam Gene Tree for BMPR2 (if available)
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Paralogsfor BMPR2 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for BMPR2 gene TGFBR2 2 ACVR1C 2 AMHR2 2 ACVR2A 2 ACVR2B 2 ACVR1B 2 TGFBR1 2 BMPR1A 2 ACVR1 2 ACVRL1 2 BMPR1B 2 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
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Genomic Variantsfor BMPR2 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , 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
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 2 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for BMPR2 (203241050 - 203432474 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 13 variations for BMPR2 13 CNVs : 1043 1604 32391 37929 50371 37415 63280 98106 98107 35778 78940 1044 90224 Human Gene Mutation Database (HGMD) : BMPR2 Locus Specific Mutation Databases (LSDB): BMPR2 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing BMPR2
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Disorders
/ Diseasesfor BMPR2 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
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BMPR2 for disorders About GeneDecksing OMIM gene information: 600799 OMIM disorders : 178600 265450 UniProtKB/Swiss-Prot: BMPR2_HUMAN, Q13873
Defects in BMPR2 are the cause of primary pulmonary hypertension (PPH1) [MIM:178600]. PPH1 is a rare autosomal dominant 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 Defects in BMPR2 are a cause of pulmonary venoocclusive disease (PVOD) [MIM:265450]. PVOD is a 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 20/48 diseases for BMPR2 (see all 48 ): About MalaCards primary pulmonary hypertension pulmonary hypertension pulmonary venoocclusive disease hypertension pulmonary hypertension, primary, fenfluramine-associated mixed connective tissue disease connective tissue disease heritable pulmonary arterial hypertension non-small cell lung carcinoma hereditary hemorrhagic telangiectasia glycogen storage disease bladder transitional cell carcinoma transitional cell carcinoma eisenmenger syndrome telangiectasis glaucoma sickle cell disease epithelial ovarian cancer vascular disease hepatopulmonary syndrome 4 diseases from the University of Copenhagen DISEASES database for BMPR2 :Primary pulmonary hypertension Hypertension Hereditary hemorrhagic telangiectasia Pulmonary venoocclusive disease 10/36 Novoseek 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 BMPR2-Related Pulmonary Arterial Hypertension Genetic Association Database (GAD): BMPR2 Human Genome Epidemiology (HuGE) Navigator: BMPR2 (33 documents) Export disorders for BMPR2 gene to outside databases
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Publicationsfor BMPR2 gene (in
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Associations of this gene to articles via
1 Entrez Gene ,
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8 UniProtKB/TrEMBL ,
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About This Section PubMed articles for BMPR2 gene, integrated from 9 sources (see all 309 ): (articles sorted by number of sources associating them with BMPR2) Utopia : connect your pdf to the dynamic world of online information
BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. (PubMed id 12358323) 1 , 2 , 4, 9 Humbert M.... Morse J.H. (2002) BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. (PubMed id 15965979) 1 , 2 , 4, 9 Sankelo M.... Laitinen T. (2005) BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. (PubMed id 11115378) 1 , 2 , 9 Machado R.D.... Nichols W.C. (2001) 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) 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) 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) The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. (PubMed id 15235019) 1 , 4, 9 Howe J.R....Lynch H.T. (2004) Pulmonary hypertension in scleroderma spectrum of disease: lack of bone morphogenetic protein receptor 2 mutations. (PubMed id 12415595) 1 , 4, 9 Morse J....Knowles J. (2002) Identification of a human type II receptor for bone morphogenetic protein-4 that forms differential heteromeric complexes with bone morphogenetic protein type I receptors. (PubMed id 7673243) 1 , 2 , 9 Nohno T....Rosenbaum J.S. (1995) Cloning and characterization of a human type II receptor for bone morphogenetic proteins. (PubMed id 7644468) 1 , 2 , 9 Rosenzweig B.L.... Miyazono K. (1995)
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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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Productsfor BMPR2 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 and Sirion Biotech , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript , LifeMap BioReagents , and Sirion Biotech , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences , In Situ Hybridization Assays from Advanced Cell Diagnostics , Animal models from inGenious Targeting Laboratory )About This Section
OriGene Antibodies for BMPR2 OriGene shRNA RFP for BMPR2 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for BMPR2 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for BMPR2 OriGene Protein Over-expression Lysate for BMPR2 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for BMPR2 OriGene 3'-UTR Clone for BMPR2 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for BMPR2 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for BMPR2 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for BMPR2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BMPR2 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing BMPR2 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat BMPR2 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat BMPR2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat BMPR2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat BMPR2
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