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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BMPR2 Gene

protein-coding GIFtS: 70
GCID: GC02P203205

bone morphogenetic protein receptor, type II (serine/threonine...

(Previous name: primary pulmonary hypertension 1 )
(Previous symbol: PPH1)

Explore 48 diseases affiliated with
BMPR2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
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

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:

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 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 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

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 ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, 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 Q585T8

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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q13873

3 DME Specific Peptides for BMPR2 (Q13873)

YMAPEVL

EARLTAQC

RYMAPEVL

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:

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	Browse Proteins at Uscn

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	--	--
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	IDA	12045205
GO:0005901	colocalizes with caveola	IMP	15657086
GO:0009925	basal plasma membrane	--	--

BMPR2 for ontologies About GeneDecksing

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(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:

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 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 subfamily

Similarity: Contains 1 protein kinase domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, 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 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): 5/7 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:

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:
Mouse knock-outs for BMPR2: Bmpr2^tm1Kmi Bmpr2^tm1.2Enl Bmpr2^tm1Kml

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for BMPR2

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMPR2

(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 ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, 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

Signaling by BMP

	Signaling by BMP	1.00			BMP receptor signaling	0.31
	BMP signalling and regulation	0.35

Akt Signaling

	Akt Signaling	1.00			Tec Kinases Signaling	0.55
	p38 Signaling	0.60

Human Embryonic Stem Cell Pluripotency

Human Embryonic Stem Cell Pluripotency

1.00

Factors Promoting Cardiogenesis in Vertebrates

0.50

PEDF Induced Signaling

STAT3 Pathway

0.47

Cytokine-cytokine receptor interaction

0.26

TGF-beta/Smad Signaling

TGF-beta/Smad Signaling

1.00

Pathway sources
See GeneCards unified pathways
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

2 Reactome Pathways for BMPR2

	Signal Transduction
	Signaling by BMP

2 Kegg Pathways (Kegg details for BMPR2):

	Cytokine-cytokine receptor interaction
	TGF-beta signaling pathway

BMPR2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM 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} ENSP00000363708⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 100)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GDF5	P43026²^,³, ENSP00000363489⁴	MINT-7264614 MINT-7264626 MINT-7264638 MINT-7264601 I2D: score=4 STRING: ENSP00000363489
PRKG1	Q13976²^,³, ENSP00000363092⁴	MINT-7289555 MINT-7289591 I2D: score=2 STRING: ENSP00000363092
MAPK8	P45983²^,³, ENSP00000353483⁴	MINT-8262275 I2D: score=2 STRING: ENSP00000353483
BMPR1A	P36894³, ENSP00000224764⁴	I2D: score=4 STRING: ENSP00000224764
ACTR8	Q9H981³, ENSP00000336842⁴	I2D: score=2 STRING: ENSP00000336842

About this table

Gene Ontology (GO): 5/30 biological process terms (GO ID links to tree view) (see all 30): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001707	mesoderm formation	ISS	--
GO:0001938	positive regulation of endothelial cell proliferation	IMP	17992660
GO:0001946	lymphangiogenesis	ISS	--
GO:0001974	blood vessel remodeling	ISS	--
GO:0003085	negative regulation of systemic arterial blood pressure	IMP	18364108

BMPR2 for ontologies About GeneDecksing

(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 Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for BMPR2

4 HMDB Compounds for BMPR2 About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Magnesium	Magnesium (see all 2)	7439-95-4	--
Manganese	manganese	7439-96-5	--

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

(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,
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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

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		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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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

(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 imageBioGPS
CGAP TAG: CTTTTTCTGA

About 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

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Lung

Pulmonary Capillary Plexus

Pulmonary Vascular Smooth Muscle Cells

Lung, Smooth Muscle

Ovary

Testis

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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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		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

(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 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)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for BMPR2 gene

TGFBR2² ACVR1C² AMHR2² ACVR2A² ACVR2B² ACVR1B² TGFBR1² 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, 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

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs137852750^1,2	C	pathogenic	203332361(+)	`ATTTAA/C/TGTAAT`	3	S R C	mis¹		0	--	--	--	--
rs137852754^1,2	C	pathogenic	203379626(+)	`ACAAGG/ATCTTC`	2	/D /G	mis¹		1		EU	1323
rs137852752^1,2	C	pathogenic	203421084(+)	`TGGCCA/C/GAACTA`	3	Q P R	mis¹		1		NA	4550
rs201930372^1,2	C,F	other	203420821(+)	`GCAGGT/GAGAAA`	2	/G	syn¹		1		EU	883
rs189963803^1,2		--	203239227(+)	`GTCAGC/GAGTTC`	1	--	us2k¹		0	--	--	--	--
rs182078775^1,2		--	203239741(+)	`TTAAGC/GAGTCT`	1	--	us2k¹		0	--	--	--	--
rs187124793^1,2		--	203239939(+)	`GCACGC/TCACCT`	1	--	us2k¹		0	--	--	--	--
rs191088330^1,2		--	203240174(+)	`TTTCAC/TGTGCC`	1	--	us2k¹		0	--	--	--	--
rs150463645^1,2		--	203240413(+)	`TCAAA-/GGGGTG`	1	--	us2k¹		0	--	--	--	--
rs145431529^1,2		--	203240536(+)	`TTCCAA/GCCCCG`	1	--	us2k¹		0	--	--	--	--

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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(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.)
About This Section

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

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 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)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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)
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(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

Name	Description
PharmGKB entry for BMPR2	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for BMPR2	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BMPR2

Intellectual Property for BMPR2 gene
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Patent Information for BMPR2 gene:
Search GeneIP for patents involving BMPR2

GeneCards and IP:
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bone morphogenetic protein receptor, type II (serine/threonine...

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