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This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor 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 seri... See more...
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
- BMPR-II 2 3 4
- Bone Morphogenetic Protein Receptor, Type II (Serine/Threonine Kinase) 2 3
- Bone Morphogenetic Protein Receptor Type-2 3 4
- BMP Type II Receptor 3 4
- BMP Type-2 Receptor 3 4
- EC 2.7.11.30 4 50
- BMPR3 2 3
- BRK-3 2 3
External Ids for BMPR2 Gene
- HGNC: 1078
- NCBI Entrez Gene: 659
- Ensembl: ENSG00000204217
- OMIM®: 600799
- UniProtKB/Swiss-Prot: 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 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. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, May 2020]
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 Signaling pathways regulating pluripotency of stem cells and Signaling by GPCR. 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 Summary 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
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BMPR2 Gene
Genomics for BMPR2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for BMPR2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around BMPR2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BMPR2
- Top Transcription factor binding sites by QIAGEN in the BMPR2 gene promoter:
-
- AML1a
Genomic Locations for BMPR2 Gene
Latest Assembly
- chr2:202,376,310-202,567,751
- (GRCh38/hg38)
- Size:
- 191,442 bases
- Orientation:
- Plus strand
Previous Assembly
- chr2:203,241,050-203,432,472
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 191,423 bases
- Orientation:
- Plus strand
Genomic View for BMPR2 Gene
Genes around BMPR2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q33.1-q33.2 by HGNC
- 2q33.1-q33.2 by Entrez Gene
- 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;
- Cofactor:
- Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
- Quaternary structure:
-
- Interacts with GDF5.
Protein Expression for BMPR2 Gene
Selected DME Specific Peptides for BMPR2 Gene
- Q13873:
-
- RYMAPEVL
- YMAPEVL
- EARLTAQC
Post-translational modifications for BMPR2 Gene
Other Protein References for BMPR2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences BMPR2 Monoclonal Antibody (LS-B9506) and BMPR2 Monoclonal Antibody (LS-B9843)
- GeneTex Anti-BMPR2 antibody [C1C3] and Anti-BMPR2 antibody [3F6]
- NSJ Bioreagents BMPR2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for BMPR2
- Novus Biologicals Antibodies for BMPR2
-
Abcam antibodies for BMPR2
- Invitrogen Antibodies for BMPR2 (AFLGC-Bmpr2)
- antibodies-online: Show 38 available BMPR2 Antibodies ranked by validation data
- Compare Top BMPR2 Antibodies
-
Recommended
- 120 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 6 IHC (p) Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 61 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 42 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
-
Custom Antibody ServicesProSci Antibodies for BMPR2
-
Santa Cruz Biotechnology (SCBT) Antibodies for BMPR2
- Sino Biological Antibodies for BMPR2
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for BMPR2
- Origene Custom Protein Services for BMPR2
- Sino Biological Recombinant Proteins for BMPR2
- Sino Biological Cell Lysates for BMPR2
-
ProSci Proteins for BMPR2
-
Abcam proteins for BMPR2
Assay products for research
- RayBiotech Human BMPR-II ELISA
- Novus Biologicals ELISA Kits for BMPR2
- antibodies-online: Show 46 available BMPR2 Elisa Kits ranked by validation data
- Compare Top BMPR2 Elisa Kits
-
Quality Products:
- ABIN365789
- ABIN5563527
- ABIN416718
- ABIN1113797
- ABIN4881981
- ABIN511254
- ABIN6385799
- ABIN5652300
- ABIN2945733
- ABIN6226701
- ABIN366325
- ABIN1113799
- ABIN772858
- ABIN6226704
- ABIN6226705
- ABIN6730584
- ABIN2542102
- ABIN454590
- ABIN1113798
- ABIN5524091
- ABIN368120
- ABIN771536
- ABIN2945735
- ABIN2542103
- ABIN5670832
- ABIN5072991
Domains & Families for BMPR2 Gene
Gene Families for BMPR2 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- FDA approved drug targets
- Predicted membrane proteins
Protein Domains for BMPR2 Gene
- InterPro:
- Blocks:
-
- Domain in TGF-beta receptor/activin receptor, type I/II
Suggested Antigen Peptide Sequences for BMPR2 Gene
- GenScript: Design optimal peptide antigens:
-
- Bone morphogenetic protein receptor type II (BMPR2_HUMAN)
- Bone morphogenic protein type II receptor (Q13161_HUMAN)
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:
- Reaction=ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho-L-threonyl-[receptor-protein]; Xref=Rhea:RHEA:44880, Rhea:RHEA-COMP:11024, Rhea:RHEA-COMP:11025, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.30;.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + L-seryl-[receptor-protein] = ADP + H(+) + O-phospho-L-seryl-[receptor-protein]; Xref=Rhea:RHEA:18673, Rhea:RHEA-COMP:11022, Rhea:RHEA-COMP:11023, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.30;.
- 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:0000166 | nucleotide binding | IEA | -- |
| GO:0004672 | protein kinase activity | IEA | -- |
| GO:0004674 | protein serine/threonine kinase activity | IEA,IBA | 21873635 |
| GO:0004675 | transmembrane receptor protein serine/threonine kinase activity | IEA | -- |
| GO:0005024 | transforming growth factor beta-activated receptor activity | IBA | 21873635 |
Phenotypes for BMPR2 Gene
- MGI mutant phenotypes for BMPR2:
-
inferred from 8 alleles
- normal phenotype
- nervous system phenotype
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- immune system phenotype
- respiratory system phenotype
- mortality/aging
- renal/urinary system phenotype
- hematopoietic system phenotype
- vision/eye phenotype
- skeleton phenotype
- integument phenotype
- embryo phenotype
- pigmentation phenotype
- GenomeRNAi human phenotypes for BMPR2:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability
- shRNA abundance <= 25%
- Reduced mammosphere formation
- no effect
- Decreased interferon-beta reporter expression
- Decreased substrate adherent cell growth
- Transferrin accumulation in the perinuclear area
- Increased shRNA abundance (Z-score > 2)
- Increased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Increased viability
- Increased nuclear migration speed
- Decreased shRNA abundance (Z-score < -2)
- Upregulation of Wnt pathway
- Increased human cytomegalovirus (HCMV) strain AD169 replication
- Decreased cell viability after pRB stimulation
- Increased G1 length
- Increased simian virus 40 (SV40) infection
- Increased G1 length, increased S length
- Increased G1 length, increased S length, increased G2 length
- Increased S length
- Decreased CYP1A1 activity after TCDD stimulation
Animal Models for BMPR2 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for BMPR2 - Starting at $85 >
- * BMPR2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for BMPR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BMPR2
-
Santa Cruz Biotechnology (SCBT) CRISPR for BMPR2
miRNA for BMPR2 Gene
- miRTarBase miRNAs that target BMPR2
-
- hsa-miR-20a-5p (MIRT000181)
- rno-miR-494-3p (MIRT002245)
- 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)
- mmu-miR-370-3p (MIRT007073)
- 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)
- rno-miR-99a-5p (MIRT731981)
- mmu-miR-17-5p (MIRT732447)
- mmu-miR-20a-5p (MIRT732448)
- mmu-miR-93-5p (MIRT732449)
- mmu-miR-106a-5p (MIRT732450)
- hsa-miR-490-5p (MIRT733654)
- hsa-miR-153-3p (MIRT735059)
miRNA products for research
Inhibitory RNAs for research
- 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
Clone products for research
- Applied Biological Materials (abm): Clones for BMPR2 - Starting at $45 >
- * BMPR2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for BMPR2
- Addgene plasmids for BMPR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BMPR2
Cell Lines for research
-
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 | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Plasma membrane (3)
- Nucleoplasm (1)
| 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 |
Akt Signaling
.60
p38 Signaling
.60
|
Tec Kinases Signaling
.55
|
| 2 | Signaling by BMP |
.33
|
|
| 3 | PEDF Induced Signaling |
STAT3 Pathway
.47
|
|
| 4 | DREAM Repression and Dynorphin Expression |
BMP Pathway
.44
|
TOB in Osteoblast Signaling
.01
|
| 5 | Human Embryonic Stem Cell Pluripotency |
Factors Promoting Cardiogenesis in Vertebrates
.50
|
Human Embryonic Stem Cell Pluripotency
.50
|
Pathways by source 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
- Akt Signaling
- Antioxidant Action of Vitamin-C
- BMP Pathway
- Cardiomyocyte Differentiation through BMP Receptors
- Factors Promoting Cardiogenesis in Vertebrates
1 Cell Signaling Technology pathway for BMPR2 Gene
1 GeneTex pathway for BMPR2 Gene
Interacting Proteins for BMPR2 Gene
Selected Interacting proteins:
Q13873-BMPR2_HUMAN
ENSP00000363708
for BMPR2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for BMPR2
SIGNOR curated interactions for BMPR2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001568 | blood vessel development | IBA | 21873635 |
| 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 |
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 | |
| Iron | Approved | Pharma | 1663 | |||
| Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
| Manganese | Approved | Nutra | 65 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
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
- 2 REFSEQ mRNAs :
- 23 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000374574 9683 nts (view in UCSC)
- ENST00000374580 12068 nts (view in UCSC)
- ENST00000479069 757 nts (view in UCSC)
- ENST00000638587 3443 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for BMPR2 - Starting at $85 >
- * BMPR2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for BMPR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BMPR2
-
Santa Cruz Biotechnology (SCBT) CRISPR for BMPR2
miRNA products for research
Inhibitory RNAs for research
- 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
Clone products for research
- Applied Biological Materials (abm): Clones for BMPR2 - Starting at $45 >
- * BMPR2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for BMPR2
- Addgene plasmids for BMPR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BMPR2
Relevant External Links for BMPR2 Gene
- GeneLoc Exon Structure for
- BMPR2
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BMPR2
SOURCE 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(4.5)
- Skin(4.5)
- Liver(4.5)
- Intestine(3.4)
- Heart(3.2)
- Muscle(2.9)
- Lung(2.9)
- Spleen(2.4)
- Blood(2.4)
- Eye(2.3)
- Pancreas(2.2)
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 for research
-
OriGene qPCR primer pairs for BMPR2
-
OriGene qPCR primer pairs and template standards for BMPR2
Gene Expression Assays for research
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 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | BMPRII 30 |
|
OneToOne | |
| BMPR2 29 |
|
||||
| Dog (Canis familiaris) |
Mammalia | BMPR2 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Bmpr2 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Bmpr2 29 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | BMPR2 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | BMPR2 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | BMPR-II 30 |
|
OneToOne | |
| BMPR2 29 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | BMPR2 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bmpr2 29 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | XBMPR-II 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | bmpr2b 29 30 |
|
OneToMany | |
| bmpr2a 30 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | wit 30 31 |
|
OneToMany |
- Species where no ortholog for BMPR2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
- Alliance of Genome Resources:
- Additional Orthologs for BMPR2
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
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BMPR2 Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1000593 | Uncertain Significance: Primary pulmonary hypertension | 202,518,868(+) |
A/G NM_001204.7(BMPR2):c.668A>G (p.Asp223Gly) |
MISSENSE | |
| 1013448 | Likely Benign: not provided | 202,464,837(+) |
G/A NM_001204.7(BMPR2):c.105G>A (p.Ala35=) |
SYNONYMOUS | |
| 1027322 | Uncertain Significance: Primary pulmonary hypertension | 202,542,319(+) |
GTACCAGAGTACCAGA
NM_001204.7(BMPR2):c.1286_1309del (p.Val429_Gln437delinsGlu) |
INFRAME_INDEL | |
| 1032700 | Pathogenic: Pulmonary Hypertension, Primary, 1 | 202,555,251(+) |
G/A NM_001204.7(BMPR2):c.1587-1G>A |
SPLICE_ACCEPTOR | |
| 1036452 | Uncertain Significance: Primary pulmonary hypertension | 202,555,592(+) |
A/G NM_001204.7(BMPR2):c.1927A>G (p.Thr643Ala) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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 Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMPR2 Gene
Disorders for BMPR2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pulmonary hypertension, primary, 1 |
|
|
| pulmonary venoocclusive disease 1, autosomal dominant |
|
|
| pulmonary arterial hypertension associated with congenital heart disease |
|
|
| idiopathic/heritable pulmonary arterial hypertension |
|
|
| heritable 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 variants 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 variants affecting the gene represented in this entry.
Additional Disease Information for BMPR2
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
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 40 72
- BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. (PMID: 12358323) Humbert M … Morse JH (The European respiratory journal 2002) 3 4 22 40 72
- [Study of the BMPR2 gene in patients with pulmonary arterial hypertension]. (PMID: 20096498) Portillo K … Barberà JA (Archivos de bronconeumologia 2010) 3 22 40 72
- Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation. (PMID: 18356561) Sztrymf B … Humbert M (American journal of respiratory and critical care medicine 2008) 3 22 40 72
- Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension. (PMID: 16717148) Elliott CG … Ward K (Circulation 2006) 3 22 40 72
ExternalLinks
Products for BMPR2 Gene
- View all 5 R&D Systems BMPR2 (BMPR-II) Products
- View all R&D Systems BMPR2 (BMPR-II) Proteins and Enzymes
- View all 3 R&D Systems BMPR2 (BMPR-II) Primary Antibodies
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- Learn more about R&D Systems custom BMPR2 antibody, protein, and immunoassay development services
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- VectorBuilder Virus packaging for BMPR2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for BMPR2
- Addgene plasmids for BMPR2
- antibodies-online: Show 38 available BMPR2 Antibodies ranked by validation data
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- 12 IF (p) Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 42 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- antibodies-online: Show 46 available BMPR2 Elisa Kits ranked by validation data
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- Quality Products:
- ABIN365789
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- ABIN416718
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- ABIN4881981
- ABIN511254
- ABIN6385799
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- ABIN2945733
- ABIN6226701
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- ABIN1113799
- ABIN772858
- ABIN6226704
- ABIN6226705
- ABIN6730584
- ABIN2542102
- ABIN454590
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- ABIN5524091
- ABIN368120
- ABIN771536
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- ABIN5670832
- ABIN5072991
- antibodies-online: Show 18 available BMPR2 Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for BMPR2
- Search Santa Cruz Biotechnology (SCBT) for BMPR2 siRNA/shRNA
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- Custom Antibody ServicesProSci Antibodies for BMPR2
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- Browse GeneCopoeia Cell Lines
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- Search GeneCopoeia for miRNA 3'UTR Target clone products for BMPR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMPR2
Sources for BMPR2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources