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Aliases for BMPR2 Gene

Aliases for BMPR2 Gene

  • Bone Morphogenetic Protein Receptor Type 2 2 3 5
  • Bone Morphogenetic Protein Receptor Type II 2 3 4
  • Bone Morphogenetic Protein Receptor, Type II (Serine/Threonine Kinase) 2 3
  • BMP Type II Receptor 3 4
  • BMP Type-2 Receptor 3 4
  • EC 2.7.11.30 4 61
  • BMPR-II 3 4
  • PPH1 3 4
  • Type II Receptor For Bone Morphogenetic Protein-4 3
  • Bone Morphogenetic Protein Receptor Type-2 3
  • Type II Activin Receptor-Like Kinase 3
  • Primary Pulmonary Hypertension 1 2
  • EC 2.7.11 61
  • BMPR-2 4
  • BMPR3 3
  • BRK-3 3
  • POVD1 3
  • T-ALK 3
  • BMR2 3

External Ids for BMPR2 Gene

Previous HGNC Symbols for BMPR2 Gene

  • PPH1

Previous GeneCards Identifiers for BMPR2 Gene

  • GC02P201458
  • GC02P201966
  • GC02P203205
  • GC02P203444
  • GC02P203067
  • GC02P202950
  • GC02P195088

Summaries for BMPR2 Gene

Entrez Gene Summary for BMPR2 Gene

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

GeneCards Summary for BMPR2 Gene

BMPR2 (Bone Morphogenetic Protein Receptor Type 2) is a Protein Coding gene. Diseases associated with BMPR2 include Pulmonary Hypertension, Familial Primary, 1, With Or Without Hht and Pulmonary Venoocclusive Disease 1. Among its related pathways are DREAM Repression and Dynorphin Expression and Mesodermal Commitment Pathway. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is AMHR2.

UniProtKB/Swiss-Prot for BMPR2 Gene

  • 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 BMP7, BMP2 and, less efficiently, BMP4. Binding is weak but enhanced by the presence of type I receptors for BMPs. Mediates induction of adipogenesis by GDF6.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BMPR2 Gene

Genomics for BMPR2 Gene

Regulatory Elements for BMPR2 Gene

Enhancers for BMPR2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G202428 0.8 Ensembl ENCODE 16.5 +53.2 53197 2.0 ZSCAN5A GATA2 ZSCAN5C BHLHE40 RAD21 NR2F2 BMPR2 LOC442063 GC02P202411 ENSG00000270915
GH02G202339 0.9 ENCODE 11.1 -36.6 -36558 0.2 FOXA2 NFIB DNMT3B ZSCAN9 FOS MIXL1 KAT8 TGIF2 CEBPA RCOR2 BMPR2 FAM117B LOC442063 RN7SL40P
GH02G202494 0.9 ENCODE 11 +118.4 118419 1.4 ELF3 FOXA2 ARID4B DMAP1 ZSCAN9 RAD21 RARA GATA4 HSF1 CREM FAM117B BMPR2 ENSG00000273456 ENSG00000270915 GC02P202411
GH02G202373 1.4 ENCODE dbSUPER 6.7 +0.4 380 6.8 CREB3L1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 ZNF610 NOP58 ENSG00000273456 FAM117B BMPR2 LOC442063 GC02P202390
GH02G202417 0.7 ENCODE 11.6 +42.3 42326 1.5 ZNF202 SCRT1 TAL1 NR2F2 TCF12 ARID1B ZFP69B SMARCA4 GATA2 ZNF692 BMPR2 ENSG00000212309 SNORD70 NOP58 GC02P202411 ENSG00000270915
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BMPR2 on UCSC Golden Path with GeneCards custom track

Promoters for BMPR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000128948 1090 4801 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 FOS SP3 SP5

Transcription factor binding sites by QIAGEN in the BMPR2 gene promoter:

Genomic Location for BMPR2 Gene

Chromosome:
2
Start:
202,376,310 bp from pter
End:
202,567,751 bp from pter
Size:
191,442 bases
Orientation:
Plus strand

Genomic View for BMPR2 Gene

Genes around BMPR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BMPR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BMPR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMPR2 Gene

Proteins for BMPR2 Gene

  • Protein details for BMPR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13873-BMPR2_HUMAN
    Recommended name:
    Bone morphogenetic protein receptor type-2
    Protein Accession:
    Q13873
    Secondary Accessions:
    • Q13161
    • Q16569
    • Q4ZG08
    • Q53SA5
    • Q585T8

    Protein attributes for BMPR2 Gene

    Size:
    1038 amino acids
    Molecular mass:
    115201 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with GDF5.

    Three dimensional structures from OCA and Proteopedia for BMPR2 Gene

    Alternative splice isoforms for BMPR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BMPR2 Gene

Selected DME Specific Peptides for BMPR2 Gene

Q13873:
  • RYMAPEVL
  • YMAPEVL
  • EARLTAQC

Post-translational modifications for BMPR2 Gene

  • Glycosylation at posLast=5555, posLast=110110, and posLast=126126
  • Modification sites at PhosphoSitePlus

Other Protein References for BMPR2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BMPR2 (BMPR2)
  • Cloud-Clone Corp. Antibodies for BMPR2

Domains & Families for BMPR2 Gene

Suggested Antigen Peptide Sequences for BMPR2 Gene

Graphical View of Domain Structure for InterPro Entry

Q13873

UniProtKB/Swiss-Prot:

BMPR2_HUMAN :
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
genes like me logo Genes that share domains with BMPR2: view

Function for BMPR2 Gene

Molecular function for BMPR2 Gene

GENATLAS Biochemistry:
bone morphogenetic protein receptor,type 2,TGFBR superfamily
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [receptor-protein] = ADP + [receptor-protein] phosphate.
UniProtKB/Swiss-Prot 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 BMP7, BMP2 and, less efficiently, BMP4. Binding is weak but enhanced by the presence of type I receptors for BMPs. Mediates induction of adipogenesis by GDF6.

Enzyme Numbers (IUBMB) for BMPR2 Gene

Gene Ontology (GO) - Molecular Function for BMPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0004675 transmembrane receptor protein serine/threonine kinase activity IEA --
GO:0004702 signal transducer, downstream of receptor, with serine/threonine kinase activity IEA --
GO:0005515 protein binding IPI 12045205
genes like me logo Genes that share ontologies with BMPR2: view
genes like me logo Genes that share phenotypes with BMPR2: view

Human Phenotype Ontology for BMPR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BMPR2 Gene

MGI Knock Outs for BMPR2:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BMPR2

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for BMPR2 Gene

Localization for BMPR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BMPR2 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BMPR2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytoskeleton 1
mitochondrion 1
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for BMPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 12045205
genes like me logo Genes that share ontologies with BMPR2: view

Pathways & Interactions for BMPR2 Gene

genes like me logo Genes that share pathways with BMPR2: view

SIGNOR curated interactions for BMPR2 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for BMPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001707 mesoderm formation ISS --
GO:0001893 maternal placenta development IEA --
GO:0001935 endothelial cell proliferation IMP 25187962
GO:0001938 positive regulation of endothelial cell proliferation IMP 17992660
GO:0001946 lymphangiogenesis ISS --
genes like me logo Genes that share ontologies with BMPR2: view

Drugs & Compounds for BMPR2 Gene

(15) Drugs for BMPR2 Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Manganese Approved Nutra 34
LDN-212854 Pharma BMP receptor inhibitor,potent and selective 0
ML347 Pharma BMP receptor inhibitor,potent and selective, Potent and selective ALK1 and ALK2 inhibitor 0
Magnesium Nutra 0

(4) Additional Compounds for BMPR2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0

(2) ApexBio Compounds for BMPR2 Gene

Compound Action Cas Number
LDN-212854 BMP receptor inhibitor,potent and selective 1432597-26-6
ML347 BMP receptor inhibitor,potent and selective 1062368-49-3
genes like me logo Genes that share compounds with BMPR2: view

Transcripts for BMPR2 Gene

Unigene Clusters for BMPR2 Gene

Bone morphogenetic protein receptor, type II (serine/threonine kinase):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BMPR2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BMPR2 Gene

No ASD Table

Relevant External Links for BMPR2 Gene

GeneLoc Exon Structure for
BMPR2
ECgene alternative splicing isoforms for
BMPR2

Expression for BMPR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BMPR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BMPR2 Gene

This gene is overexpressed in Adrenal (42.6) and Fetal Brain (13.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BMPR2 Gene



Protein tissue co-expression partners for BMPR2 Gene

NURSA nuclear receptor signaling pathways regulating expression of BMPR2 Gene:

BMPR2

SOURCE GeneReport for Unigene cluster for BMPR2 Gene:

Hs.471119

mRNA Expression by UniProt/SwissProt for BMPR2 Gene:

Q13873-BMPR2_HUMAN
Tissue specificity: Highly expressed in heart and liver.

Evidence on tissue expression from TISSUES for BMPR2 Gene

  • Nervous system(4.9)
  • Kidney(4.4)
  • Liver(4.2)
  • Skin(4.2)
  • Heart(2.9)
  • Intestine(2.9)
  • Lung(2.9)
  • Muscle(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BMPR2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • respiratory
Organs:
Head and neck:
  • ear
Thorax:
  • heart
  • heart valve
  • lung
General:
  • blood
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns with BMPR2: view

Primer Products

No data available for mRNA differential expression in normal tissues for BMPR2 Gene

Orthologs for BMPR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for BMPR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BMPR2 34 35
  • 99.65 (n)
cow
(Bos Taurus)
Mammalia BMPRII 35
  • 97 (a)
OneToOne
BMPR2 34
  • 92.71 (n)
dog
(Canis familiaris)
Mammalia BMPR2 34 35
  • 92.88 (n)
mouse
(Mus musculus)
Mammalia Bmpr2 34 16 35
  • 91.62 (n)
rat
(Rattus norvegicus)
Mammalia Bmpr2 34
  • 90.91 (n)
oppossum
(Monodelphis domestica)
Mammalia BMPR2 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BMPR2 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves BMPR-II 35
  • 89 (a)
OneToOne
BMPR2 34
  • 81.21 (n)
lizard
(Anolis carolinensis)
Reptilia BMPR2 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bmpr2 34
  • 72.69 (n)
African clawed frog
(Xenopus laevis)
Amphibia XBMPR-II 34
zebrafish
(Danio rerio)
Actinopterygii bmpr2b 34 35
  • 66.4 (n)
bmpr2a 35
  • 53 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta wit 36 35
  • 37 (a)
Species where no ortholog for BMPR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BMPR2 Gene

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

Paralogs for BMPR2 Gene

(7) SIMAP similar genes for BMPR2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with BMPR2: view

Variants for BMPR2 Gene

Sequence variations from dbSNP and Humsavar for BMPR2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs137852743 Pathogenic, Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] 202,467,625(+) TGTTG(G/T)AGCAC reference, missense
rs137852744 Pathogenic, Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] 202,530,866(+) AACCT(A/G)TGTTA reference, missense
rs137852745 Pathogenic, Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] 202,552,756(+) TTGGG(A/G)CCAGG reference, missense
rs137852746 Pathogenic, Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] 202,552,773(+) AGGCT(C/T)GGCTT reference, missense
rs137852749 Pathogenic, Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] 202,552,774(+) GGCTC(A/G)GCTTA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for BMPR2 Gene

Variant ID Type Subtype PubMed ID
dgv4150n100 CNV loss 25217958
dgv4151n100 CNV loss 25217958
dgv4152n100 CNV loss 25217958
dgv4153n100 CNV loss 25217958
dgv65n17 CNV loss 16327808
dgv7252n54 CNV loss 21841781
dgv754e199 CNV deletion 23128226
esv23010 CNV loss 19812545
esv2421826 CNV deletion 20811451
esv2556143 CNV deletion 19546169
esv2635288 CNV insertion 19546169
esv2641233 CNV loss 19546169
esv2674261 CNV deletion 23128226
esv2721369 CNV deletion 23290073
esv2760604 CNV loss 21179565
esv2763060 CNV loss 21179565
esv3560835 CNV deletion 23714750
esv3584276 CNV loss 25503493
esv3593995 CNV loss 21293372
esv3593996 CNV gain 21293372
esv3593997 CNV loss 21293372
esv3593998 CNV loss 21293372
esv3593999 CNV loss 21293372
nsv1006296 CNV loss 25217958
nsv1007686 CNV loss 25217958
nsv1008979 CNV loss 25217958
nsv10211 CNV loss 18304495
nsv1127792 CNV deletion 24896259
nsv1131538 CNV deletion 24896259
nsv1131539 CNV deletion 24896259
nsv1131540 CNV deletion 24896259
nsv3113 CNV deletion 18451855
nsv433209 CNV loss 18776910
nsv438379 CNV loss 16468122
nsv442845 CNV loss 18776908
nsv471519 CNV loss 19718026
nsv498950 CNV loss 21111241
nsv514114 CNV loss 21397061
nsv517288 CNV loss 19592680

Variation tolerance for BMPR2 Gene

Residual Variation Intolerance Score: 9.34% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.40; 42.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BMPR2 Gene

Human Gene Mutation Database (HGMD)
BMPR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BMPR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMPR2 Gene

Disorders for BMPR2 Gene

MalaCards: The human disease database

(18) MalaCards diseases for BMPR2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pulmonary hypertension, familial primary, 1, with or without hht
  • pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated
pulmonary venoocclusive disease 1
  • pulmonary venoocclusive disease 1, autosomal dominant
pulmonary hypertension
  • primary pulmonary hypertension
heritable pulmonary arterial hypertension
  • familial pulmonary arterial hypertension
pulmonary venoocclusive disease
  • pulmonary veno-occlusive disease
- elite association - COSMIC cancer census association via MalaCards
Search BMPR2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BMPR2_HUMAN
  • Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]: A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. {ECO:0000269 PubMed:10903931, ECO:0000269 PubMed:10973254, ECO:0000269 PubMed:11015450, ECO:0000269 PubMed:11115378, ECO:0000269 PubMed:12358323, ECO:0000269 PubMed:15965979, ECO:0000269 PubMed:25187962}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pulmonary venoocclusive disease 1, autosomal dominant (PVOD1) [MIM:265450]: A disease characterized by widespread fibrous obstruction and intimal thickening of septal veins and preseptal venules, a low diffusing capacity for carbon monoxide, occult alveolar hemorrhage, and nodular ground-glass opacities, septal lines and lymph node enlargement showed by high-resolution computed tomography of the chest. It is frequently associated with pulmonary capillary dilatation and proliferation, and is a rare and devastating cause of pulmonary hypertension. {ECO:0000269 PubMed:12446270, ECO:0000269 PubMed:16429395}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for BMPR2

Genetic Association Database (GAD)
BMPR2
Human Genome Epidemiology (HuGE) Navigator
BMPR2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BMPR2
genes like me logo Genes that share disorders with BMPR2: view

No data available for Genatlas for BMPR2 Gene

Publications for BMPR2 Gene

  1. BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. (PMID: 15965979) Sankelo M. … Laitinen T. (Hum. Mutat. 2005) 3 4 22 46 64
  2. BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. (PMID: 12358323) Humbert M. … Morse J.H. (Eur. Respir. J. 2002) 3 4 22 46 64
  3. Human type II receptor for bone morphogenic proteins (BMPs): extension of the two-kinase receptor model to the BMPs. (PMID: 7791754) Liu F. … Massague J. (Mol. Cell. Biol. 1995) 2 3 4 22 64
  4. Sequence variants in BMPR2 and genes involved in the serotonin and nitric oxide pathways in idiopathic pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension: relation to clinical parameters and comparison with left heart disease. (PMID: 19844076) Ulrich S. … Speich R. (Respiration 2010) 3 22 46 64
  5. [Study of the BMPR2 gene in patients with pulmonary arterial hypertension]. (PMID: 20096498) Portillo K. … BarberA J.A. (Arch. Bronconeumol. 2010) 3 22 46 64

Products for BMPR2 Gene

Sources for BMPR2 Gene

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