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
- 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
External Ids for BMPR2 Gene
- HGNC: 1078
- Entrez Gene: 659
- Ensembl: ENSG00000204217
- OMIM: 600799
- UniProtKB: Q13873
Previous HGNC Symbols for BMPR2 Gene
- PPH1
Previous GeneCards Identifiers for BMPR2 Gene
- GC02P201458
- GC02P201966
- GC02P203205
- GC02P203444
- GC02P203067
- GC02P202950
- GC02P195088
Summaries 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, Primary, 1 and Pulmonary Venoocclusive Disease 1, Autosomal Dominant. Among its related pathways are Akt Signaling and Integrated Breast Cancer Pathway. Gene Ontology (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.
Additional gene information for BMPR2 Gene
- Monarch Initiative
- Search for BMPR2 at DataMed
- Search for BMPR2 at HumanCyc
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
GeneHancer (GH) Regulatory Elements for BMPR2 Gene
Promoters and enhancers for BMPR2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around BMPR2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the BMPR2 gene promoter:
Regulatory Element Products
Genomic Locations for BMPR2 Gene
Genomic Locations for BMPR2 Gene
- chr2:202,376,310-202,567,751
- (GRCh38/hg38)
- Size:
- 191,442 bases
- Orientation:
- Plus strand
- chr2:203,241,050-203,432,474
- (GRCh37/hg19)
Genomic View for BMPR2 Gene
Genes around BMPR2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q33.1-q33.2 by Entrez Gene
- 2q33.1-q33.2 by HGNC
- 2q33.1 by Ensembl
BMPR2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for BMPR2 Gene
Post-translational modifications for BMPR2 Gene
Other Protein References for BMPR2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for BMPR2 (BMPR-II)
-
Custom Antibody ServicesOriGene Antibodies for BMPR2
- Novus Biologicals Antibodies for BMPR2
- Invitrogen Antibodies for BMPR2
- antibodies-online: Search results for 152 available BMPR2 Antibodies ranked by validation data
- Compare Top BMPR2 Antibodies
-
Recommended
- 107 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 1 IHC Antibody (anti-human)
- 57 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 38 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- GeneTex BMPR2 Antibody for BMPR2
-
Boster Bio Antibodies for BMPR2
-
Santa Cruz Biotechnology (SCBT) Antibodies for BMPR2
- Sino Biological Antibodies for BMPR2
Protein Products
- R&D Systems Proteins and Enzymes for BMPR2 (BMPR-II)
- Search Origene for MassSpec and Protein Over-expression Lysates for BMPR2
- Origene Custom Protein Services for BMPR2
- Sino Biological Cell Lysates for BMPR2
- Sino Biological Recombinant Proteins for BMPR2
- Search GeneTex for Proteins for BMPR2
-
ProSci Proteins for BMPR2
Assay Products
No data available for DME Specific Peptides for BMPR2 Gene
Domains & Families for BMPR2 Gene
Gene Families for BMPR2 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted membrane proteins
Protein Domains for BMPR2 Gene
Suggested Antigen Peptide Sequences for BMPR2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q13873UniProtKB/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.
Function for BMPR2 Gene
Molecular function for BMPR2 Gene
- 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- ATP + [receptor-protein] = ADP + [receptor-protein] phosphate.
- GENATLAS Biochemistry:
- bone morphogenetic protein receptor,type 2,TGFBR superfamily
Enzyme Numbers (IUBMB) for BMPR2 Gene
Phenotypes From GWAS Catalog 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 | obsolete signal transducer, downstream of receptor, with serine/threonine kinase activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 12045205 |
Phenotypes for BMPR2 Gene
- MGI mutant phenotypes for BMPR2:
-
inferred from 8 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- skeleton phenotype
- embryo phenotype
- normal phenotype
- renal/urinary system phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for BMPR2:
-
- Decreased viability
- Decreased substrate adherent cell growth
- Increased shRNA abundance (Z-score > 2)
- Decreased CYP1A1 activity after TCDD stimulation
- Dynamic nuclei (hole, folded or small irregular)
- Decreased shRNA abundance (Z-score < -2)
- Reduced mammosphere formation
- Upregulation of Wnt pathway
- Increased G1 length, increased G2 length
- Increased cell viability after pRB stimulation
- no effect
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Increased vaccinia virus (VACV) infection
- Decreased interferon-beta reporter expression
- shRNA abundance <= 50%
- Increased viability
- Increased transferrin (TF) endocytosis
- Increased simian virus 40 (SV40) infection
- Transferrin accumulation in the perinuclear area
Animal Models for BMPR2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for BMPR2
-
CRISPR Products
-
OriGene CRISPR knockouts for BMPR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BMPR2
- genomics-online: gRNA clones - Search results for 100 available BMPR2 gene related products
- Overview of 100 available BMPR2 gene related products
- Applied Biological Materials CRISPR for BMPR2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BMPR2
- GenScript: Design CRISPR guide RNA sequences for BMPR2
miRNA for BMPR2 Gene
- miRTarBase miRNAs that target BMPR2
-
- hsa-mir-20a-5p (MIRT000181)
- hsa-mir-21-5p (MIRT003837)
- hsa-mir-129-5p (MIRT004051)
- hsa-mir-92a-3p (MIRT004932)
- hsa-mir-19b-3p (MIRT004933)
- hsa-mir-19a-3p (MIRT004934)
- hsa-mir-17-5p (MIRT004935)
- hsa-mir-100-5p (MIRT006723)
- hsa-mir-302c-3p (MIRT006970)
- hsa-mir-130a-3p (MIRT007142)
- hsa-mir-181c-5p (MIRT007221)
- hsa-mir-128-3p (MIRT021896)
- hsa-mir-215-5p (MIRT024599)
- hsa-mir-7-5p (MIRT025637)
- hsa-mir-192-5p (MIRT026148)
- hsa-mir-93-5p (MIRT027982)
- hsa-mir-26b-5p (MIRT028861)
- hsa-mir-93-3p (MIRT038729)
- hsa-mir-135a-5p (MIRT052973)
- hsa-mir-181a-5p (MIRT053686)
- hsa-mir-106b-5p (MIRT086761)
- hsa-mir-20b-5p (MIRT086763)
- hsa-mir-519d-3p (MIRT086766)
- hsa-mir-32-5p (MIRT156989)
- hsa-mir-181b-5p (MIRT156990)
- hsa-mir-181d-5p (MIRT156997)
- hsa-mir-92b-3p (MIRT157000)
- hsa-mir-27a-3p (MIRT157097)
- hsa-mir-27b-3p (MIRT157101)
- hsa-mir-548c-3p (MIRT395591)
- hsa-mir-135b-5p (MIRT438736)
- hsa-mir-4716-5p (MIRT538934)
- hsa-mir-4772-3p (MIRT638945)
- hsa-mir-3615 (MIRT638946)
- hsa-mir-1304-3p (MIRT638947)
- hsa-mir-125b-1-3p (MIRT638948)
- hsa-mir-6890-3p (MIRT638949)
- hsa-mir-6800-3p (MIRT638950)
- hsa-mir-6787-3p (MIRT660188)
- hsa-mir-6736-3p (MIRT660189)
- hsa-mir-4693-5p (MIRT717258)
- hsa-mir-103a-2-5p (MIRT717259)
- hsa-mir-302d-5p (MIRT717260)
- hsa-mir-302b-5p (MIRT717261)
- hsa-mir-550b-3p (MIRT717262)
- hsa-mir-892c-3p (MIRT717263)
- hsa-mir-4676-3p (MIRT717264)
- hsa-mir-452-5p (MIRT717265)
- hsa-mir-100-3p (MIRT717266)
- hsa-mir-490-5p (MIRT733654)
- hsa-mir-153-3p (MIRT735059)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BMPR2
- Browse OriGene Inhibitory RNA Products For BMPR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMPR2
- genomics-online: shRNA clones - Search results for 100 available BMPR2 gene related products
- Overview of 100 available BMPR2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for BMPR2
- VectorBuilder custom plasmid, inducible vectors for BMPR2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for BMPR2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for BMPR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BMPR2
- Applied Biological Materials Clones for BMPR2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for BMPR2 (BMPR-II)
Cell Line Products
-
Horizon Cell Lines for BMPR2
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| nucleus | 5 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| cytosol | 1 |
- Nucleoplasm (2)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005615 | extracellular space | HDA | 22664934 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | IDA | 12045205 |
Pathways & Interactions for BMPR2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Akt Signaling |
.60
.60
|
|
| 2 | Signaling by BMP |
.33
|
|
| 3 | PEDF Induced Signaling |
.47
|
|
| 4 | BMP Pathway |
.44
|
|
| 5 | Human Embryonic Stem Cell Pluripotency | ||
Pathways by source for BMPR2 Gene
1 GeneTex pathway for BMPR2 Gene
8 BioSystems pathways for BMPR2 Gene
2 Reactome pathways for BMPR2 Gene
7 KEGG pathways for BMPR2 Gene
11 Qiagen pathways for BMPR2 Gene
1 Cell Signaling Technology pathway for BMPR2 Gene
Interacting Proteins for BMPR2 Gene
Selected Interacting proteins:
Q13873-BMPR2_HUMAN
ENSP00000363708
for BMPR2 Gene via
IID
UniProtKB
MINT
STRING
GPS-Prot Interaction Network for BMPR2
SIGNOR curated interactions 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 | -- |
Drugs & Compounds for BMPR2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Dibotermin alfa | Approved, Investigational | Pharma | Target, ligand | 0 | ||
| fostamatinib | Approved, Investigational | Pharma | Target, inhibitor | Kinase Inhibitors | 0 | |
| Magnesium | Approved | Nutra | 0 | |||
| Manganese | Approved | Nutra | 37 | |||
| ATP | Investigational | Nutra | Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 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 |
Transcripts for BMPR2 Gene
mRNA/cDNA for BMPR2 Gene
- (321) Selected AceView cDNA sequences:
- (14) Additional mRNA sequences :
- (3) REFSEQ mRNAs :
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000374574 9683 bps (uc010ftr.4)
- ENST00000374580 11461 bps (uc002uzf.5)
- ENST00000479069 757 bps (uc061rnk.1)
- ENST00000638587 3443 bps
Unigene Clusters for BMPR2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for BMPR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BMPR2
- genomics-online: gRNA clones - Search results for 100 available BMPR2 gene related products
- Overview of 100 available BMPR2 gene related products
- Applied Biological Materials CRISPR for BMPR2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BMPR2
- GenScript: Design CRISPR guide RNA sequences for BMPR2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BMPR2
- Browse OriGene Inhibitory RNA Products For BMPR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMPR2
- genomics-online: shRNA clones - Search results for 100 available BMPR2 gene related products
- Overview of 100 available BMPR2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for BMPR2
- VectorBuilder custom plasmid, inducible vectors for BMPR2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for BMPR2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for BMPR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BMPR2
- Applied Biological Materials Clones for BMPR2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for BMPR2 (BMPR-II)
Expression for BMPR2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
-
Gonad (Reproductive System)
- Testis Somatic Cells Primitive Gonad
-
Testis (Reproductive System)
- Testis Somatic Cells Primitive Gonad
-
Lung (Respiratory System)
- Pulmonary Vascular Smooth Muscle Cells Pulmonary Capillary Plexus
-
Smooth Muscle (Muscoskeletal System)
- Pulmonary Vascular Smooth Muscle Cells Pulmonary Capillary Plexus
- Blood (Hematopoietic System)
- Mesenchymal Stem Cells
- Umbilical Cord (Extraembryonic Tissues)
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 and MOPED for BMPR2 Gene
NURSA nuclear receptor signaling pathways regulating expression of BMPR2 Gene:
BMPR2SOURCE GeneReport for Unigene cluster for BMPR2 Gene:
Hs.471119mRNA 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)
- Lung(3)
- Heart(2.9)
- Intestine(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
Regions:
Head and neck:
- ear
Thorax:
- heart
- heart valve
- lung
General:
- blood
- blood vessel
- skin
Primer Products
-
OriGene qPCR primer pairs and template standards for BMPR2
-
OriGene qPCR primer pairs for BMPR2
- genomics-online: primer clones - Search results for 100 available BMPR2 gene related products
- Overview of 100 available BMPR2 gene related products
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | BMPR2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | BMPRII 34 |
|
OneToOne | |
| BMPR2 33 |
|
||||
| dog (Canis familiaris) |
Mammalia | BMPR2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Bmpr2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Bmpr2 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | BMPR2 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | BMPR2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | BMPR-II 34 |
|
OneToOne | |
| BMPR2 33 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | BMPR2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | bmpr2 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | XBMPR-II 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | bmpr2b 34 33 |
|
OneToMany | |
| bmpr2a 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | wit 34 35 |
|
OneToMany |
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for BMPR2: view image
Paralogs for BMPR2 Gene
Paralogs for BMPR2 Gene
(7) SIMAP similar genes for BMPR2 Gene using alignment to 2 proteins:
- BMPR2_HUMAN
- Q13161_HUMAN
Variants for BMPR2 Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1006246556 | pathogenic, Primary pulmonary hypertension, hypertension, primary, 1 (PPH1) [MIM:178600] | 202,556,253(+) | G/A | coding_sequence_variant, missense_variant | |
| rs1027089995 | uncertain-significance, Primary pulmonary hypertension | 202,376,773(+) | C/T | 5_prime_UTR_variant | |
| rs1037042104 | uncertain-significance, Primary pulmonary hypertension | 202,520,188(+) | A/C/G | coding_sequence_variant, missense_variant, synonymous_variant | |
| rs1048829 | benign, Primary pulmonary hypertension | 202,565,733(+) | T/A/G | 3_prime_UTR_variant | |
| rs1060502576 | pathogenic, Primary pulmonary hypertension | 202,542,432(+) | G/A | coding_sequence_variant, stop_gained |
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)
Additional Variant Information for BMPR2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMPR2 Gene
Disorders for BMPR2 Gene
(18) MalaCards diseases for BMPR2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pulmonary hypertension, primary, 1 |
|
|
| pulmonary venoocclusive disease 1, autosomal dominant |
|
|
| pulmonary hypertension |
|
|
| pulmonary venoocclusive disease |
|
|
| idiopathic and/or familial pulmonary arterial hypertension |
|
|
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:24936649, ECO:0000269 PubMed:25187962, ECO:0000269 PubMed:28507310}. 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.
Additional Disease Information for BMPR2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for BMPR2 Gene
Publications for BMPR2 Gene
- BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. (PMID: 15965979) Sankelo M … Laitinen T (Human mutation 2005) 3 4 22 44 58
- BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. (PMID: 12358323) Humbert M … Morse JH (The European respiratory journal 2002) 3 4 22 44 58
- Human type II receptor for bone morphogenic proteins (BMPs): extension of the two-kinase receptor model to the BMPs. (PMID: 7791754) Liu F … Massagué J (Molecular and cellular biology 1995) 2 3 4 22 58
- [Study of the BMPR2 gene in patients with pulmonary arterial hypertension]. (PMID: 20096498) Portillo K … Barberà JA (Archivos de bronconeumologia 2010) 3 22 44 58
- 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; international review of thoracic diseases 2010) 3 22 44 58
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Sources for BMPR2 Gene
- (1) GeneCards
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