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Aliases & Descriptions for BMPR2
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases BMPR-II 1 , 2 , 3 BMPR3 1 , 2 BMR2 2 BRK-3 1 , 2 EC 2.7.11.30 3 FLJ41585 2 FLJ76945 2 PPH1 2 , 3 , 5 T-ALK 1 , 2
Descriptions BMP type II receptor 2 , 3 Bone morphogenetic protein receptor type II 2 , 3 bone morphogenetic protein receptor type-2 2 bone morphogenetic protein receptor, type II (serine/threonine kinase) 2 primary pulmonary hypertension 1 1 type II activin receptor-like kinase 2 type II receptor for bone morphogenetic protein-4 2
Search outside databases for aliases for BMPR2 genePrevious GC identifers: GC02P201458 GC02P201966 GC02P203205 GC02P203444 GC02P203067
Summaries for BMPR2 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for BMPR2 : This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembraneserine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-betasuperfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteinstransduce their signals through the formation of heteromeric complexes of two different types ofserine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors ofabout 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but theyrequire their respective type I receptors for signaling, whereas type I receptors require theirrespective type II receptors for ligand binding. Mutations in this gene have been associated withprimary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonaryvenoocclusive disease. [provided by RefSeq] UniProtKB/Swiss-Prot: BMPR2_HUMAN, Q13873 Function : On ligand binding, forms a receptor complex consisting of two type II and two type Itransmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type Ireceptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Bindsto BMP-7, BMP-2 and, less efficiently, BMP-4. Binding is weak but enhanced by the presence of typeI receptors for BMPs
Genomic Location for BMPR2
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the BMPR2 gene 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 gene densities for chromosome 2 GeneLoc Exon Structure
GeneLoc location for GC02P202950:
(about GC identifiers )
Start:
202,949,916 bp from pter
End:
203,140,719 bp from pter
Size:
190,804 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000002.10 NT_005403.16 Proteins for BMPR2
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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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
PDB structures from and Proteopedia : 3G2F (3D)
 
Secondary accessions : Q16569
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins: NP_001195.2 ENSEMBL proteins: ENSP00000363708 ENSP00000363702 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: BMPR2 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for BMPR2: Assays for BMPR2:
Protein
Domains/ Families for BMPR2(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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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. TGFBreceptor subfamily Similarity : Contains 1 protein kinase domain
Gene Function for BMPR2
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001204 Applied Biosystems Silencer ® siRNAs for BMPR2 Sigma-Aldrich siRNA and siRNA Panels for BMPR2 Sigma-Aldrich shRNA Panels and shRNA for BMPR2 Explore Sigma-Aldrich super-pooled esiRNAs               OriGene GFP tagged cDNA clone in CMV expression vector: NM_001204                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001204                                  untagged cDNA clone in CMV expression vector: NM_001204  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001204 UniProtKB/Swiss-Prot: BMPR2_HUMAN, Q13873 Function : On ligand binding, forms a receptor complex consisting of two type II and two type Itransmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type Ireceptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Bindsto BMP-7, BMP-2 and, less efficiently, BMP-4. Binding is weak but enhanced by the presence of typeI receptors for BMPs Catalytic activity : ATP + [receptor-protein] = ADP + [receptor-protein] phosphateEnzyme Number (IUBMB): EC 2.7.11.30
Genatlas biochemistry entry for BMPR2 :bone morphogenetic protein receptor,type 2,TGFBR superfamily
6 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Bmpr2) :5/9 Gene Ontology (GO) molecular function terms (links to tree view) (see all 9
):
GO ID Qualified GO term Evidence PubMed IDs GO:0000166 nucleotide binding
IEA -- GO:0000287 magnesium ion binding
IEA -- GO:0004674 protein serine/threonine kinase activity
IEA -- GO:0004872 receptor activity
IEA -- GO:0005024 transforming growth factor beta receptor activity
IEA --
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Pathways & Interactions for BMPR2
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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5/9 Sigma-Aldrich "Your Favorite Gene" Pathways for BMPR2 (Your Favorite Gene powered by Ingenuity) (see all 9
) Gene Network CentralTM Interacting Genes and Proteins Network for BMPR2 5/74 Interacting proteins for BMPR2 (Q13873 1 ENSP00000363708 3 ) via UniProtKB, MINT, and/or STRING (see all 74
)About this table 5/14 Gene Ontology (GO) biological process terms (links to tree view) (see all 14
):
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Drugs & Compounds for BMPR2 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for BMPR2 8 Novoseek chemical compound relationships for BMPR2 gene
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Transcripts for BMPR2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
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siRNAs from Applied Biosystems ,
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shRNA from
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OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001204 Sigma-Aldrich siRNA and siRNA Panels for BMPR2 Sigma-Aldrich shRNA Panels and shRNA for BMPR2 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001204
REFSEQ mRNAs for BMPR2 gene: NM_001204.6
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001204
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001204                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001204                                  untagged cDNA clone in CMV expression vector: NM_001204  
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 CR594123.1 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
):BQ445814 AU140876 BQ015819 AA600266 CA776932 AA322194 BE894118 BG171838 NM_033346 BM663639 BM669872 AW130317 BM702018 AA161470 AI243204 BQ286081 U20165 AL134551 AW117996 AL707387 AK093832 AA463575 BM993291 CB218558
highest scoring ESTs for BMPR2 :AA745720 AI807691 AL046696 C15977 Z48923 AA011472 AA040311 AA046526 AA046593 AA053300
Unigene Cluster for BMPR2: Bone morphogenetic protein receptor, type II (serine/threonine kinase) Hs.471119 [show with all ESTs ] Unigene Representative Sequence: NM_001204 GeneLoc Exon Structure 2 Ensembl transcripts including schematic representations : ENST00000374580
ENST00000374574
Expression for BMPR2
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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BMPR2 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for BMPR2 1 / 2 / 3
16 probe-sets matching BMPR2 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CTTTTTCTGASOURCE GeneReport for Unigene cluster: Hs.471119 Expression variation in blood from EXPOLDB for BMPR2
UniProtKB/Swiss-Prot: BMPR2_HUMAN, Q13873 Tissue specificity : Highly expressed in heart and liver
Orthologs for BMPR2
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for BMPR2 gene from 5/9 species (see all 9
)
About this table Species with no ortholog for BMPR2 ENSEMBL Gene Tree for BMPR2 Paralogs for BMPR2 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for BMPR2 gene AMHR2 2
SNPs/Variants for BMPR2 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for BMPR2 (up to first 250kb)
Disorders & Mutations for BMPR2
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 600799 disorders : 178600 265450 178600 UniProtKB/Swiss-Prot: BMPR2_HUMAN, Q13873
Defects in BMPR2 are the cause of primary pulmonary hypertension (PPH1) [MIM:178600]. PPH1is a rare autosomal dominant disorder characterized by plexiform lesions of proliferatingendothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterialpression, right ventricular failure, and death. The disease can occur from infancy throughout lifeand 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 theappetite-suppressant drugs Defects in BMPR2 are a cause of pulmonary venoocclusive disease (PVOD) [MIM:265450]. PVODis a rare form of pulmonary hypertension in which the vascular changes originate in the smallpulmonary veins and venules. The pathogenesis is unknown and any link with PPH1 has beenspeculative. The finding of PVOD associated with a BMPR2 mutation reveals a possible pathogeneticconnection with PPH1
10/36 Novoseek disease relationships for BMPR2 gene (see all 36
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
primary pulmonary hypertension
90.47
52
11484688 (3), 11940546 (2), 14583445 (2), 14985116 (2) (see all 32 )
hypertension arterial
85.08
93
18496036 (5), 16357305 (3), 12415595 (3), 16728714 (2) (see all 53 )
hypertension pulmonary
77.36
28
12571257 (4), 11940546 (2), 16840720 (2), 15286002 (2) (see all 21 )
telangiectasia hereditary hemorrhagic
74.67
4
18792970 (2), 11484689 (1), 15194176 (1)
pulmonary hypertension secondary
56.44
2
11940546 (1)
telangiectasia
48.73
2
15065824 (1)
germ-line mutation
45.42
2
15918053 (1), 17030903 (1)
connective tissue diseases
39.64
4
12384956 (1), 15509626 (1), 14516151 (1), 15049592 (1)
genetic hypertension
33.15
1
15049592 (1)
vascular diseases
29.21
3
14583445 (1), 14684682 (1), 18321866 (1)
About this table GeneTests: BMPR2 BMPR2-Related Pulmonary Arterial Hypertension Human Gene Mutation Database : BMPR2 Genetic Association Database: BMPR2 Human Genome Epidemiology Navigator: BMPR2 (14 documents)
Medical News for BMPR2 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for BMPR2 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/237 PubMed articles for BMPR2 gene (see all 237
): BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. (PubMed id 12358323) 1, 3, 4, 6 Humbert M.... Morse J.H. (2002) BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. (PubMed id 15965979) 1, 3, 4, 6 Sankelo M.... Laitinen T. (2005) BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. (PubMed id 11115378) 1, 3, 4 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, 3, 4 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, 3, 4 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, 2, 3 Liu F.... Massague J. (1995) Pulmonary hypertension in scleroderma spectrum of disease: lack of bone morphogenetic protein receptor 2 mutations. (PubMed id 12415595) 1, 3, 6 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, 3, 4 Nohno T....Rosenbaum J.S. (1995) Cloning and characterization of a human type II receptor for bone morphogenetic proteins. (PubMed id 7644468) 1, 3, 4 Rosenzweig B.L.... Miyazono K. (1995) BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease. (PubMed id 15358693) 1, 3, 6 Roberts K.E....Morse J.H. (2004)
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Genome Databases showing BMPR2
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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(According to HUGE )
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Specialized Databases showing BMPR2 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for BMPR2 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Databases for BMPR2
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Domains/Families for BMPR2
Drugs/Compounds for BMPR2
Expression for BMPR2
Function for BMPR2
Location for BMPR2
Medical News for BMPR2
Orthologs for BMPR2
Paralogs for BMPR2
Pathways/Interactions for BMPR2
Proteins for BMPR2
Publications for BMPR2
SNPs for BMPR2
Search Box for BMPR2
Services for BMPR2
Summaries for BMPR2
Technologies for BMPR2
Transcripts for BMPR2
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009