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Aliases for BMPR2 Gene

Aliases for BMPR2 Gene

  • Bone Morphogenetic Protein Receptor, Type II (Serine/Threonine Kinase) 2 3
  • PPH1 3 4 6
  • Bone Morphogenetic Protein Receptor Type II 3 4
  • BMP Type II Receptor 3 4
  • BMP Type-2 Receptor 3 4
  • EC 2.7.11.30 4 63
  • BMPR-II 3 4
  • BMPR-2 3 4
  • POVD1 3 6
  • 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 63
  • BMPR3 3
  • BRK-3 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 II (Serine/Threonine Kinase)) is a Protein Coding gene. Diseases associated with BMPR2 include pulmonary venoocclusive disease 1 and pulmonary hypertension, familial primary, 1, with or without hht. Among its related pathways are Signaling by GPCR and Akt Signaling. GO annotations related to this gene include transforming growth factor beta-activated receptor activity and activin receptor activity, type II. An important paralog of this gene is TGFBR2.

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 BMP-7, BMP-2 and, less efficiently, BMP-4. Binding is weak but enhanced by the presence of type I receptors for BMPs

No data available for 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

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for BMPR2 Gene

Start:
202,376,327 bp from pter
End:
202,567,751 bp from pter
Size:
191,425 bases
Orientation:
Plus strand

Genomic View for BMPR2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for BMPR2 Gene at MOPED

Selected DME Specific Peptides for BMPR2 Gene

Post-translational modifications for BMPR2 Gene

  • Glycosylation at Asn55, Asn110, and Asn126
  • Modification sites at PhosphoSitePlus

Other Protein References for BMPR2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BMPR2 (BMPR2)

Domains for BMPR2 Gene

Suggested Antigen Peptide Sequences for BMPR2 Gene

Graphical View of Domain Structure for InterPro Entry

Q13873

UniProtKB/Swiss-Prot:

BMPR2_HUMAN :
  • Q13873
Domain:
  • Contains 1 protein kinase domain.
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 BMP-7, BMP-2 and, less efficiently, BMP-4. Binding is weak but enhanced by the presence of type I receptors for BMPs

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 --
GO:0004675 transmembrane receptor protein serine/threonine kinase activity --
GO:0004702 receptor signaling protein serine/threonine kinase activity IEA --
GO:0004713 protein tyrosine kinase activity --
GO:0005024 transforming growth factor beta-activated receptor activity --
genes like me logo Genes that share ontologies with BMPR2: view
genes like me logo Genes that share phenotypes with BMPR2: view

Animal Models for BMPR2 Gene

MGI Knock Outs for BMPR2:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BMPR2

Clone Products

  • Addgene plasmids for BMPR2

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting 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
Jensen Localization Image for BMPR2 Gene COMPARTMENTS Subcellular localization image for BMPR2 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 1
cytosol 1
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BMPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 12045205
GO:0005901 colocalizes_with caveola IMP 15657086
genes like me logo Genes that share ontologies with BMPR2: view

Pathways for BMPR2 Gene

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

Pathways by source for BMPR2 Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for BMPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001707 mesoderm formation ISS --
GO:0001935 endothelial cell proliferation IMP 25187962
GO:0001938 positive regulation of endothelial cell proliferation IMP 17992660
GO:0001946 lymphangiogenesis ISS --
GO:0001974 blood vessel remodeling ISS --
genes like me logo Genes that share ontologies with BMPR2: view

Compounds for BMPR2 Gene

(4) HMDB Compounds for BMPR2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Magnesium
  • Magnesium
7439-95-4
Manganese
  • manganese
7439-96-5

(13) Novoseek inferred chemical compound relationships for BMPR2 Gene

Compound -log(P) Hits PubMed IDs
threonine 60.1 6
monocrotaline 58.5 2
serine 42.8 5
thymidine 17.1 2
lipid 5.49 2
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BMPR2

Clone Products

  • Addgene plasmids for BMPR2

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

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 for BMPR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for BMPR2 Gene

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for BMPR2 Gene

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

Expression partners for BMPR2 Gene

In Situ Assay 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
cow
(Bos Taurus)
Mammalia BMPR2 35
  • 92.71 (n)
  • 96.44 (a)
BMPRII 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BMPR2 35
  • 92.88 (n)
  • 96.49 (a)
BMPR2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bmpr2 35
  • 91.62 (n)
  • 96.63 (a)
Bmpr2 16
Bmpr2 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BMPR2 35
  • 99.65 (n)
  • 99.9 (a)
BMPR2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bmpr2 35
  • 90.91 (n)
  • 96.15 (a)
oppossum
(Monodelphis domestica)
Mammalia BMPR2 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BMPR2 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves BMPR2 35
  • 81.21 (n)
  • 90.2 (a)
BMPR-II 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BMPR2 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bmpr2 35
  • 72.69 (n)
  • 79.84 (a)
African clawed frog
(Xenopus laevis)
Amphibia XBMPR-II 35
zebrafish
(Danio rerio)
Actinopterygii bmpr2b 35
  • 66.4 (n)
  • 72.08 (a)
bmpr2a 36
  • 53 (a)
OneToMany
bmpr2b 36
  • 67 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta wit 37
  • 37 (a)
wit 36
  • 29 (a)
OneToMany
Species with no ortholog for BMPR2:
  • 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

Selected 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 MAF
rs1046590 -- 202,566,654(+) ATAGG(A/G)TTTTC utr-variant-3-prime
rs1048127 -- 202,556,147(+) CCAAT(A/G)GGACA missense, reference
rs1048829 -- 202,565,733(+) TTATC(G/T)ATGGA utr-variant-3-prime
rs1061157 Benign 202,556,476(+) CAGAG(A/G)CCTAA synonymous-codon, reference
rs1138775 -- 202,478,841(+) gaatt(A/G)cctga intron-variant

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

Variant ID Type Subtype PubMed ID
nsv875711 CNV Loss 21882294
nsv875712 CNV Loss 21882294
esv2721369 CNV Deletion 23290073
nsv471519 CNV Deletion 19718026
nsv3113 CNV Loss 18451855
dgv65n17 CNV Loss 16327808
nsv433209 CNV Loss 18776910
esv2641233 CNV Loss 19546169
esv2556143 CNV Deletion 19546169
dgv754e199 CNV Deletion 23128226
nsv10211 CNV Loss 18304495
esv23010 CNV Loss 19812545
nsv498950 CNV Loss 21111241
esv2421826 CNV Deletion 20811451
nsv442845 CNV CNV 18776908
nsv517288 CNV Loss 19592680
nsv514114 CNV Loss 21397061
nsv438379 CNV Loss 16468122
nsv875713 CNV Loss 21882294
esv2674261 CNV Deletion 23128226
nsv875714 CNV Gain 21882294
esv2635288 CNV Insertion 19546169

Relevant External Links for BMPR2 Gene

HapMap Linkage Disequilibrium report
BMPR2
Human Gene Mutation Database (HGMD)
BMPR2
Locus Specific Mutation Databases (LSDB)
BMPR2

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

Disorders for BMPR2 Gene

(2) OMIM Diseases for BMPR2 Gene (600799)

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.

(36) Novoseek inferred disease relationships for BMPR2 Gene

Disease -log(P) Hits PubMed IDs
primary pulmonary hypertension 89.8 43
hypertension arterial 87.3 96
hypertension pulmonary 77.9 32
telangiectasia hereditary hemorrhagic 77.4 7
telangiectasia 55.6 2

Relevant External Links for BMPR2

GeneTests
BMPR2
GeneReviews
BMPR2
Genetic Association Database (GAD)
BMPR2
Human Genome Epidemiology (HuGE) Navigator
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. 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 23
  2. BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. (PMID: 12358323) Humbert M. … Morse J.H. (Eur. Respir. J. 2002) 3 4 23 48
  3. BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. (PMID: 15965979) Sankelo M. … Laitinen T. (Hum. Mutat. 2005) 3 4 23 48
  4. The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. (PMID: 15235019) Howe J.R. … Lynch H.T. (J. Med. Genet. 2004) 3 23 48
  5. BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease. (PMID: 15358693) Roberts K.E. … Morse J.H. (Eur. Respir. J. 2004) 3 23 48

Products for BMPR2 Gene

  • Addgene plasmids for BMPR2

Sources for BMPR2 Gene

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