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Aliases for BMPR2 Gene

Aliases for BMPR2 Gene

  • Bone Morphogenetic Protein Receptor Type 2 2 3
  • Bone Morphogenetic Protein Receptor Type II 2 3 4 5
  • 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 63
  • BMPR-II 3 4
  • BMPR-2 3 4
  • PPH1 3 4
  • Type II Receptor For Bone Morphogenetic Protein-4 3
  • Type II Activin Receptor-Like Kinase 3
  • Primary Pulmonary Hypertension 1 2
  • EC 2.7.11 63
  • 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 Signaling by GPCR and MicroRNAs in cancer. 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 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 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 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

Promoters for BMPR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BMPR2 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for BMPR2 Gene at MOPED

Selected DME Specific Peptides for BMPR2 Gene

Post-translational modifications for BMPR2 Gene

  • Glycosylation at Asn 55, Asn 110, and Asn 126
  • Modification sites at PhosphoSitePlus

Other Protein References for BMPR2 Gene

ENSEMBL proteins:
REFSEQ proteins:

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 :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
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 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

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

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for BMPR2 Gene COMPARTMENTS Subcellular localization image for BMPR2 gene
Compartment Confidence
extracellular 5
plasma membrane 5
nucleus 3
chloroplast 1
cytoskeleton 1
cytosol 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BMPR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009986 cell surface IEA --
GO:0030425 dendrite IEA --
GO:0043025 neuronal cell body IEA --
GO:0044214 spanning component of plasma membrane TAS 9442116
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:0001974 blood vessel remodeling ISS --
GO:0002063 chondrocyte development IMP 9442116
genes like me logo Genes that share ontologies with BMPR2: view

Drugs & Compounds for BMPR2 Gene

(12) Drugs for BMPR2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Manganese Pharma 32
Magnesium Nutra 0

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

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
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

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 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



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 expression patterns with BMPR2: view

Protein tissue co-expression partners for BMPR2 Gene

Primer Products

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

(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
VAR_013670 Pulmonary hypertension, primary, 1 (PPH1)
VAR_013671 Pulmonary hypertension, primary, 1 (PPH1)
VAR_013672 Pulmonary hypertension, primary, 1 (PPH1)
VAR_013673 Pulmonary hypertension, primary, 1 (PPH1)
VAR_013674 Pulmonary hypertension, primary, 1 (PPH1)

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

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

HapMap Linkage Disequilibrium report
BMPR2
Human Gene Mutation Database (HGMD)
BMPR2

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

Disorders for BMPR2 Gene

MalaCards: The human disease database

(17) 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 veno-occlusive disease
pulmonary hypertension
  • primary pulmonary hypertension
heritable pulmonary arterial hypertension
  • familial primary pulmonary 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 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. (PMID: 12358323) Humbert M. … Morse J.H. (Eur. Respir. J. 2002) 3 4 23 48 67
  2. 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 23
  3. 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 23
  4. [Study of the BMPR2 gene in patients with pulmonary arterial hypertension]. (PMID: 20096498) Portillo K. … BarberA J.A. (Arch. Bronconeumol. 2010) 3 23
  5. Novel loci interacting epistatically with bone morphogenetic protein receptor 2 cause familial pulmonary arterial hypertension. (PMID: 19864167) Rodriguez-Murillo L. … Greenberg D.A. (J. Heart Lung Transplant. 2010) 3 23

Products for BMPR2 Gene

Sources for BMPR2 Gene

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