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BMPR2 Gene

protein-coding GIFtS: 66

GC02P202950

bone morphogenetic protein receptor, type II (serine/threonine kinase)
(Previous name: primary pulmonary hypertension 1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: PPH1)

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

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

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

Search outside databases for aliases for BMPR2 gene

Previous GC identifers: GC02P201458 GC02P201966 GC02P203205 GC02P203444 GC02P203067

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

EntrezGene 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]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

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

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, 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 PhosphoSite²

REFSEQ proteins: NP_001195.2

ENSEMBL proteins:

ENSP00000363708 ENSP00000363702

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich Proteins for BMPR2
	R&D Systems Recombinant & Natural Proteins for BMPR2 (BMPR-II)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (BMPR2)
	Human Recombinant Proteins from Abnova (BMPR2)

OriGene Purified Recombinant Human Protein: BMPR2

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	EXP	17356069
GO:0005887	integral to plasma membrane	IDA	12045205
GO:0009986	cell surface	ISS	--

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Antibodies for BMPR2:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for BMPR2
	R&D Systems Antibodies for BMPR2 (BMPR-II)
	Antibodies from Abcam (BMPR2), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (BMPR2)
	Novus Biologicals Antibodies for BMPR2

Assays for BMPR2:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

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 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.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (BMPR2)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (BMPR2)

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

Clones:		Invitrogen Clones for BMPR2
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

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 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

Enzyme 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):

	embryogenesis	growth/size	lethality-prenatal/perinatal	normal
skeleton

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	--

About this table

(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 ¹UniProtKB, ²MINT, and/or ³STRING, 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 )

NF-&kappa
Role of NANOG in Mammalian Embryonic Stem Cell Pluripotency
Molecular Mechanisms of Cancer
Factors Promoting Cardiogenesis in Vertebrates
Human Embryonic Stem Cell Pluripotency

GeneDecks BMPR2 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for BMPR2

5/74 Interacting proteins for BMPR2 (Q13873¹ ENSP00000363708³) via UniProtKB, MINT, and/or STRING (see all 74 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
C4bp C4bp (xeno)	Q91X48¹	EBI-527196, EBI-527325
Prkcb Prkcb (xeno)	P68404¹	EBI-527196, EBI-397048
BMP2	ENSP00000368104³	STRING (score=.999)
BMP4	ENSP00000245451³	STRING (score=.999)
BMP7	ENSP00000360340³	STRING (score=.999)

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5/14 Gene Ontology (GO) biological process terms (links to tree view) (see all 14 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001707	mesoderm formation	ISS	--
GO:0003085	negative regulation of systemic arterial blood pressure	IMP	18364108
GO:0006366	transcription from RNA polymerase II promoter	IMP	12045205
GO:0006468	protein amino acid phosphorylation	IEA	--
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	IDA	12045205

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(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)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for BMPR2
8 Novoseek chemical compound relationships for BMPR2 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
monocrotaline	61.86	2	17142350 (1), 17336165 (1)
threonine	60.55	7	16155937 (1), 7791754 (1), 17030903 (1), 10051328 (1) (see all 6)
thymidine	20.77	2	11327700 (1), 12419820 (1)
lipid	2.45	3	17141153 (1), 16271518 (1)
potassium	0.00	1	16527843 (1)
mannose	0.00	1	16615932 (1)
progesterone	0.00	1	12419820 (1)
tyrosine	0.00	3	16155937 (1), 17942918 (1)

About this table

(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 Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (BMPR2)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (BMPR2)

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

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , 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 )
About This Section

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

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
39998_at²^{, 3}	U95-A	1	1.00	1.00	0.83	0.41	Z48923	1.00	1.00	1.00	1
89346_at²^{, 3}	U95-E	1	1.00	1.00	0.86	1.07	AL046696	1.00	1.00	1.00	1
44148_at²^{, 3}	U95-B	1	1.00	1.00	0.91	1.66	AA745720	1.00	1.00	1.00	1
51825_r_at²^{, 3}	U95-C	1	1.00	1.00	0.50	0.28	AA102032	0.80	1.00	0.91	1
76926_at²^{, 3}	U95-D	2	1.00	0.97	0.54	1.14	AI807691	1.00	1.00	1.00	1
53744_at²^{, 3}	U95-C	1	0.94	1.00	0.95	0.96	C15977	1.00	1.00	1.00	1
225144_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AI457436	0.80	1.00	0.91	1
210214_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	U25110	0.80	1.00	0.91	1
209920_at²^{, 3}	U133-A	1	1.00	1.00	--	--	U20165	0.80	1.00	0.91	1
231873_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AL046696	1.00	1.00	1.00	1
238516_at²^{, 3}	U133-B	1	0.64	1.00	--	--	BF247383	0.80	1.00	0.91	1
225144_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
210214_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
209920_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
231873_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
238516_at²	U133Plus2	1	0.64	1.00	--	--	--	--	--	--	--

GeneDecks BMPR2 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: CTTTTTCTGA

SOURCE 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 according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI 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 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
chimpanzee (Pan troglodytes)	BMPR2¹	--	bone morphogenetic protein receptor, type II (serine/threonine more	99.65(n) 99.9(a)	459885 XM_001172748.1 XP_001172748.1
cow (Bos taurus)	BMPR2¹	--	bone morphogenetic protein receptor, type II (serine/threonine more	92.76(n) 96.66(a)	407127 XM_617592.3 XP_617592.3
rat (Rattus norvegicus)	Bmpr2¹	--	bone morphogenetic protein receptor, type II (serine/threonine more	87.16(n) 90.86(a)	140590 XM_217409.4 XP_217409.4
mouse (Mus musculus)	Bmpr2^{1, 5}	1⁵	bone morphogenic protein receptor, type II (serine/threonine more^{1, 5}	91.59(n)¹ 96.63(a)¹	12168¹ NM_007561.2¹ NP_031587.1¹ AF003942⁵ AK011534⁵ (see all 18)
chicken (Gallus gallus)	BMPR2¹	--	bone morphogenetic protein receptor, type II (serine/threonine more	81.38(n) 90.46(a)	374147 NM_001001465.1 NP_001001465.1

About this table Species with no ortholog for BMPR2

ENSEMBL Gene Tree for BMPR2

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for BMPR2 gene

AMHR2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/773 NCBI SNPs in BMPR2 are shown (see all 773 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 106)

AB	SNP ID	Valid	Chr 2 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs1048829^1,2	A,C,F,H,O	203138701(+)	`TTATCT/GATGGA`	1	--	ut3¹ ese³		15	NS MN EU EA WA NA	1805
	rs7600694^1,2	A,C,F,H	203138912(+)	`CTATCG/ATATCT`	1	--	ut3¹ ese³		4	EU EA WA	418
	rs6435156^1,2	A,C,F	203133720(+)	`GGCATC/TTTAAT`	1	--	ut3¹ ese³		6	EA NA	398
	rs17199242^1,2	C,F,H	203134380(+)	`TTGCTT/GCTTTC`	1	--	ut3¹ ese³		7	NA EU EA WA	560
	rs2228545^1,2	C,F,H	203128957(+)	`TGGCAG/ACAAGC`	1	N/S	mis¹		11	MN EU EA WA NA	1014
	rs17199249^1,2	C,F,H	203134913(+)	`TTCTTT/GATTCA`	1	--	ut3¹ trp³		9	NA EU EA WA	744
	rs3731696^1,2	C,F,H	203140049(-)	`TAATCT/CCTATG`	1	--	ut3¹		4	EU EA WA	418
	rs6705406^1,2	C,F,H	203136821(+)	`CTATAG/CAACTA`	1	--	ut3¹ ese³		9	NS EU EA WA	522
	rs13013096^1,2	C,H	203141200(+)	`gaccaT/Cgtatt`	1	--	ng3¹		4	EU EA WA	418
	rs7572177^1,2	A,H	203133713(+)	`CCTTCA/CAGGCA`	1	--	ut3¹ ese³		4	EU EA WA	418

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HapMap Linkage Disequilibrium images for BMPR2 (up to first 250kb)

(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]. 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

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)

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GeneTests: BMPR2

Human Gene Mutation Database: BMPR2
Genetic Association Database: BMPR2
Human Genome Epidemiology Navigator: BMPR2 (14 documents)

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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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)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 659	HGNC: 1078	AceView: BMPR2	Ensembl:ENSG00000204217	euGenes: HUgn659
ECgene: BMPR2	H-InvDB: BMPR2

(According to HUGE)
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(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

Name	Description
ATLAS Chromosomes in Cancer entry for BMPR2	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=BMPR2

Licensable Technologies for BMPR2
(Available from WIS Yeda, Salk, Tufts)

About This Section

(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

Products for BMPR2:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for BMPR2-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for BMPR2		Antibodies for BMPR2
	Explore super-pooled esiRNAs		Proteins for BMPR2
	Lentivirus-delivered shRNAs for BMPR2		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (BMPR2)
	Antibodies (BMPR2)
	Chimera RNAi (BMPR2)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (BMPR2)
	Antibodies (BMPR2)

	Tagged/untagged cDNA clones
	Validated SYBR primer pairs
	Purified proteins from HEK293T cells
	Western blot validated antibodies
	shRNA in GFP-retroviral vector

Search Tocris compounds for BMPR2

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for BMPR2

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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BMPR2 Gene at Home site.
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BMPR2 Gene

protein-coding GIFtS: 66

Aliases &
Descriptions
for BMPR2

Summaries
for BMPR2

Genomic Location
for BMPR2

Proteins
for BMPR2

Protein Domains/
Families
for BMPR2

Gene Function
for BMPR2

Pathways & Interactions
for BMPR2

Drugs & Compounds
for BMPR2

Transcripts
for BMPR2

Expression
for BMPR2

Orthologs
for BMPR2

Paralogs
for BMPR2

SNPs/Variants
for BMPR2

Disorders & Mutations
for BMPR2

Medical News
for BMPR2

Publications
for BMPR2

Search for BMPR2

Genome Databases showing BMPR2

Other Databases showing BMPR2

Specialized Databases showing BMPR2

Licensable Technologies
for BMPR2

Services
for BMPR2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

BMPR2 Gene

protein-coding GIFtS: 66

Aliases & Descriptionsfor BMPR2

Summariesfor BMPR2

Genomic Locationfor BMPR2

Proteinsfor BMPR2

Protein Domains/Familiesfor BMPR2

Gene Functionfor BMPR2

Pathways & Interactionsfor BMPR2

Drugs & Compoundsfor BMPR2

Transcriptsfor BMPR2

Expression for BMPR2

Orthologsfor BMPR2

Paralogsfor BMPR2

SNPs/Variantsfor BMPR2

Disorders & Mutationsfor BMPR2

Medical Newsfor BMPR2

Publicationsfor BMPR2

Search for BMPR2

Genome Databases showing BMPR2

Other Databases showing BMPR2

Specialized Databases showing BMPR2

Licensable Technologiesfor BMPR2

Servicesfor BMPR2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for BMPR2

Summaries
for BMPR2

Genomic Location
for BMPR2

Proteins
for BMPR2

Protein Domains/
Families
for BMPR2

Gene Function
for BMPR2

Pathways & Interactions
for BMPR2

Drugs & Compounds
for BMPR2

Transcripts
for BMPR2

Expression
for BMPR2

Orthologs
for BMPR2

Paralogs
for BMPR2

SNPs/Variants
for BMPR2

Disorders & Mutations
for BMPR2

Medical News
for BMPR2

Publications
for BMPR2

Licensable Technologies
for BMPR2

Services
for BMPR2