| Gene Symbol | BMPR2 |
| Entrez ID | 659 |
| Uniprot ID | Q13873 |
| Description | bone morphogenetic protein receptor type II |
| Chromosomal Location | chr2: 202,376,936-202,567,751 |
| Ontology | GO ID | GO Term | Definition | Evidence |
|---|---|---|---|---|
|
BP |
GO:0001707 |
mesoderm formation |
The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts. |
ISS |
|
BP |
GO:0001893 |
maternal placenta development |
Maternally driven process whose specific outcome is the progression of the placenta over time, from its formation to the mature structure. The placenta is an organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin. |
IEA |
|
BP |
GO:0001935 |
endothelial cell proliferation |
The multiplication or reproduction of endothelial cells, resulting in the expansion of a cell population. Endothelial cells are thin flattened cells which line the inside surfaces of body cavities, blood vessels, and lymph vessels, making up the endothelium. |
IMP |
|
BP |
GO:0001938 |
positive regulation of endothelial cell proliferation |
Any process that activates or increases the rate or extent of endothelial cell proliferation. |
IMP |
|
BP |
GO:0001946 |
lymphangiogenesis |
Lymph vessel formation when new vessels emerge from the proliferation of pre-existing vessels. |
ISS |
|
BP |
GO:0001974 |
blood vessel remodeling |
The reorganization or renovation of existing blood vessels. |
ISS |
|
BP |
GO:0002063 |
chondrocyte development |
The process whose specific outcome is the progression of a chondrocyte over time, from its commitment to its mature state. Chondrocyte development does not include the steps involved in committing a chondroblast to a chondrocyte fate. |
IMP |
|
BP |
GO:0003085 |
negative regulation of systemic arterial blood pressure |
The process that reduces the force with which blood travels through the systemic arterial circulatory system. |
IMP |
|
BP |
GO:0003148 |
outflow tract septum morphogenesis |
The process in which the anatomical structures of the outflow tract septum are generated and organized. The outflow tract septum is a partition in the outflow tract. |
ISS |
|
BP |
GO:0003151 |
outflow tract morphogenesis |
The process in which the anatomical structures of the outflow tract are generated and organized. The outflow tract is the portion of the heart through which blood flows into the arteries. |
ISS |
|
BP |
GO:0003183 |
mitral valve morphogenesis |
The process in which the structure of the mitral valve is generated and organized. |
ISS |
|
BP |
GO:0003186 |
tricuspid valve morphogenesis |
The process in which the structure of the tricuspid valve is generated and organized. |
ISS |
|
BP |
GO:0003197 |
endocardial cushion development |
The progression of a cardiac cushion over time, from its initial formation to the mature structure. The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves. |
ISS |
|
BP |
GO:0003252 |
negative regulation of cell proliferation involved in heart valve morphogenesis |
Any process that decreases the rate, frequency or extent of cell proliferation that contributes to the shaping of a heart valve. |
ISS |
|
BP |
GO:0006366 |
transcription from RNA polymerase II promoter |
The synthesis of RNA from a DNA template by RNA polymerase II, originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). |
IMP |
|
BP |
GO:0007178 |
transmembrane receptor protein serine/threonine kinase signaling pathway |
A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell where the receptor possesses serine/threonine kinase activity, and ending with regulation of a downstream cellular process, e.g. transcription. |
IDA |
|
BP |
GO:0007420 |
brain development |
The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
IEA |
|
BP |
GO:0009267 |
cellular response to starvation |
Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of nourishment. |
IEP |
|
BP |
GO:0009952 |
anterior/posterior pattern specification |
The regionalization process in which specific areas of cell differentiation are determined along the anterior-posterior axis. The anterior-posterior axis is defined by a line that runs from the head or mouth of an organism to the tail or opposite end of the organism. |
ISS |
|
BP |
GO:0010595 |
positive regulation of endothelial cell migration |
Any process that increases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium. |
IMP |
|
BP |
GO:0010634 |
positive regulation of epithelial cell migration |
Any process that activates or increases the frequency, rate or extent of epithelial cell migration. |
IDA |
|
BP |
GO:0010862 |
positive regulation of pathway-restricted SMAD protein phosphorylation |
Any process that increases the rate, frequency or extent of pathway-restricted SMAD protein phosphorylation. Pathway-restricted SMAD proteins and common-partner SMAD proteins are involved in the transforming growth factor beta receptor signaling pathways. |
IMP |
|
BP |
GO:0014916 |
regulation of lung blood pressure |
The process that modulates the force with which blood travels through the lungs. The process is controlled by a balance of processes that increase pressure and decrease pressure. |
IMP|ISS |
|
BP |
GO:0023014 |
signal transduction by protein phosphorylation |
A process in which the transfer of one or more phosphate groups to a substrate transmits a signal to the phosphorylated substrate. |
IEA |
|
BP |
GO:0030166 |
proteoglycan biosynthetic process |
The chemical reactions and pathways resulting in the formation of proteoglycans, any glycoprotein in which the carbohydrate units are glycosaminoglycans. |
ISS |
|
BP |
GO:0030308 |
negative regulation of cell growth |
Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth. |
IDA |
|
BP |
GO:0030501 |
positive regulation of bone mineralization |
Any process that activates or increases the frequency, rate or extent of bone mineralization. |
IMP |
|
BP |
GO:0030509 |
BMP signaling pathway |
A series of molecular signals initiated by the binding of a member of the BMP (bone morphogenetic protein) family to a receptor on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription. |
IDA|IMP|ISS|TAS |
|
BP |
GO:0030513 |
positive regulation of BMP signaling pathway |
Any process that activates or increases the frequency, rate or extent of BMP signaling pathway activity. |
IMP |
|
BP |
GO:0032924 |
activin receptor signaling pathway |
A series of molecular signals initiated by the binding of an extracellular ligand to an activin receptor on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription. |
IEA |
|
BP |
GO:0042127 |
regulation of cell proliferation |
Any process that modulates the frequency, rate or extent of cell proliferation. |
IMP |
|
BP |
GO:0045669 |
positive regulation of osteoblast differentiation |
Any process that activates or increases the frequency, rate or extent of osteoblast differentiation. |
IMP |
|
BP |
GO:0045778 |
positive regulation of ossification |
Any process that activates or increases the frequency, rate or extent of bone formation. |
ISS |
|
BP |
GO:0045906 |
negative regulation of vasoconstriction |
Any process that stops, prevents, or reduces the frequency, rate or extent of vasoconstriction. |
ISS |
|
BP |
GO:0045944 |
positive regulation of transcription from RNA polymerase II promoter |
Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
IMP|ISS |
|
BP |
GO:0048010 |
vascular endothelial growth factor receptor signaling pathway |
Any series of molecular signals initiated by the binding of an extracellular ligand to a vascular endothelial growth factor receptor (VEGFR) located on the surface of the receiving cell, and ending with regulation of a downstream cellular process, e.g. transcription. |
ISS |
|
BP |
GO:0048286 |
lung alveolus development |
The process whose specific outcome is the progression of the alveolus over time, from its formation to the mature structure. The alveolus is a sac for holding air in the lungs; formed by the terminal dilation of air passageways. |
ISS |
|
BP |
GO:0048842 |
positive regulation of axon extension involved in axon guidance |
Any process that activates, maintains or increases the frequency, rate or extent of axon extension involved in axon guidance. |
IEA |
|
BP |
GO:0060173 |
limb development |
The process whose specific outcome is the progression of a limb over time, from its formation to the mature structure. A limb is an appendage of an animal used for locomotion or grasping. Examples include legs, arms or some types of fin. |
IEA |
|
BP |
GO:0060350 |
endochondral bone morphogenesis |
The process in which bones are generated and organized as a result of the conversion of initial cartilaginous anlage into bone. |
ISS |
|
BP |
GO:0060412 |
ventricular septum morphogenesis |
The developmental process in which a ventricular septum is generated and organized. A ventricular septum is an anatomical structure that separates the lower chambers (ventricles) of the heart from one another. |
ISS |
|
BP |
GO:0060413 |
atrial septum morphogenesis |
The developmental process in which atrial septum is generated and organized. The atrial septum separates the upper chambers (the atria) of the heart from one another. |
ISS |
|
BP |
GO:0060836 |
lymphatic endothelial cell differentiation |
The process in which a venous blood vessel endothelial cell acquires specialized features of a lymphatic vessel endothelial cell, a thin flattened cell that lines the inside surfaces of lymph vessels. |
ISS |
|
BP |
GO:0060840 |
artery development |
The progression of the artery over time, from its initial formation to the mature structure. An artery is a blood vessel that carries blood away from the heart to a capillary bed. |
ISS |
|
BP |
GO:0060841 |
venous blood vessel development |
The progression of the venous blood vessel over time from its initial formation to the mature structure. Venous blood vessels carry blood back to the heart after the capillary bed. |
ISS |
|
BP |
GO:0061036 |
positive regulation of cartilage development |
Any process that increases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. |
ISS |
|
BP |
GO:0061298 |
retina vasculature development in camera-type eye |
The process whose specific outcome is the progression of the vasculature of the retina over time, from its formation to the mature structure. |
ISS |
|
BP |
GO:0061626 |
pharyngeal arch artery morphogenesis |
The process in which the anatomical structures of a pharyngeal arch artery is generated and organized. The pharyngeal arch arteries are a series of six paired embryological vascular structures, the development of which give rise to several major arteries, such as the stapedial artery, the middle meningeal artery, the internal carotid artery and the pulmonary artery. |
ISS |
|
BP |
GO:0071773 |
cellular response to BMP stimulus |
Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a bone morphogenetic protein (BMP) stimulus. |
IMP |
|
BP |
GO:0072577 |
endothelial cell apoptotic process |
Any apoptotic process in an endothelial cell. An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. |
IMP |
|
BP |
GO:1902731 |
negative regulation of chondrocyte proliferation |
Any process that stops, prevents, or reduces the frequency, rate or extent of the multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population. A chondrocyte is a polymorphic cell that forms cartilage. |
IMP |
|
BP |
GO:1905314 |
semi-lunar valve development |
The process whose specific outcome is the progression of a semi-lunar valve over time, from its formation to the mature structure. |
ISS |
|
BP |
GO:2000279 |
negative regulation of DNA biosynthetic process |
Any process that stops, prevents or reduces the frequency, rate or extent of DNA biosynthetic process. |
IMP |
|
CC |
GO:0005615 |
extracellular space |
That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
IDA |
|
CC |
GO:0005737 |
cytoplasm |
All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
IEA |
|
CC |
GO:0005886 |
plasma membrane |
The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
IDA|TAS |
|
CC |
GO:0005887 |
integral component of plasma membrane |
The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
IDA |
|
CC |
GO:0005901 |
caveola |
A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm. |
IMP |
|
CC |
GO:0005911 |
cell-cell junction |
A cell junction that forms a connection between two or more cells in a multicellular organism; excludes direct cytoplasmic junctions such as ring canals. |
IDA |
|
CC |
GO:0009925 |
basal plasma membrane |
The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
IEA |
|
CC |
GO:0009986 |
cell surface |
The external part of the cell wall and/or plasma membrane. |
IEA |
|
CC |
GO:0016324 |
apical plasma membrane |
The region of the plasma membrane located at the apical end of the cell. |
IEA |
|
CC |
GO:0030425 |
dendrite |
A neuron projection that has a short, tapering, often branched, morphology, receives and integrates signals from other neurons or from sensory stimuli, and conducts a nerve impulse towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
IEA |
|
CC |
GO:0043025 |
neuronal cell body |
The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
IEA |
|
CC |
GO:0044214 |
spanning component of plasma membrane |
The component of the plasma membrane consisting of gene products and protein complexes that have some part that spans both leaflets of the membrane. |
TAS |
|
MF |
GO:0004702 |
receptor signaling protein serine/threonine kinase activity |
Conveys a signal from an upstream receptor or intracellular signal transducer by catalysis of the reaction: ATP protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
IEA |
|
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
|
MF |
GO:0005524 |
ATP binding |
Interacting selectively and non-covalently with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
IEA |
|
MF |
GO:0016362 |
activin receptor activity, type II |
Combining with activin to initiate a change in cell activity; upon ligand binding, binds to and catalyses the phosphorylation of a type I activin receptor. |
TAS |
|
MF |
GO:0019838 |
growth factor binding |
Interacting selectively and non-covalently with any growth factor, proteins or polypeptides that stimulate a cell or organism to grow or proliferate. |
IEA |
|
MF |
GO:0036122 |
BMP binding |
Interacting selectively and non-covalently with a member of the bone morphogenetic protein (BMP) family. |
IPI |
|
MF |
GO:0046872 |
metal ion binding |
Interacting selectively and non-covalently with any metal ion. |
IEA |
|
MF |
GO:0098821 |
BMP receptor activity |
Combining with a member of the bone morphogenetic protein (BMP) family, and transmitting a signal across the plasma membrane to initiate a change in cell activity. |
ISS |
| Domain ID | Description |
|---|---|
|
IPR000333 |
Ser/Thr protein kinase, TGFB receptor |
|
IPR000472 |
Activin types I and II receptor domain |
|
IPR000719 |
Protein kinase domain |
|
IPR011009 |
Protein kinase-like domain |
|
IPR015770 |
Bone morphogenetic protein receptor type-2 |
|
IPR017441 |
Protein kinase, ATP binding site |
| Pathway ID | Pathway Term | Pathway Source |
|---|---|---|
|
hsa04060 |
Cytokine-cytokine receptor interaction |
KEGG |
|
hsa04350 |
TGF-beta signaling pathway |
KEGG |
|
hsa04360 |
Axon guidance |
KEGG |
|
hsa04390 |
Hippo signaling pathway |
KEGG |
|
hsa04550 |
Signaling pathways regulating pluripotency of stem cells |
KEGG |
|
hsa05206 |
MicroRNAs in cancer |
KEGG |
|
hsa05418 |
Fluid shear stress and atherosclerosis |
KEGG |
|
WP1984 |
Integrated Breast Cancer Pathway |
WikiPathways |
|
WP1425 |
Bone Morphogenic Protein (BMP) Signalling and Regulation |
WikiPathways |
|
WP3931 |
ESC Pluripotency Pathways |
WikiPathways |
|
WP2857 |
Mesodermal Commitment Pathway |
WikiPathways |
|
WP1591 |
Heart Development |
WikiPathways |
|
WP3874 |
Canonical and Non-Canonical TGF-B signaling |
WikiPathways |
|
h_alkPathway |
ALK in cardiac myocytes |
BioCarta |
| UMLS CUI | UMLS Term |
|---|---|
|
C0020542 |
Pulmonary Hypertension |
|
C0034091 |
Pulmonary Veno-Occlusive Disease (Disorder) |
|
C0206081 |
Hyperandrogenism |
|
C1458155 |
Mammary Neoplasms |
|
C1969342 |
Pulmonary Hypertension, Primary, Dexfenfluramine-Associated |
|
C1969343 |
Pulmonary Hypertension, Primary, Fenfluramine-Associated |
|
C3203102 |
Idiopathic Pulmonary Arterial Hypertension |
| Tissue | Cell Type |
|---|---|
|
adrenal gland |
glandular cells |
|
bronchus |
respiratory epithelial cells |
|
cerebellum |
Purkinje cells |
|
cerebral cortex |
neuronal cells |
|
kidney |
cells in tubules |
|
lung |
macrophages |
|
skin |
Langerhans |
|
spleen |
cells in red pulp |
|
thyroid gland |
glandular cells |
| Pubmed ID | Author | Year | Title |
|---|---|---|---|
|
22789864 |
Yan et al. |
2012 |
Expression of apoptosis-related genes in the endometrium of polycystic ovary syndrome patients during the window of implantation |
|
22951915 |
Haozi et al. |
2012 |
Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome |
| Gene Symbol | Entrez ID | Uniprot ID | Score |
|---|---|---|---|
|
SMAD4 |
4089 |
Q13485 |
0.00 |
|
STAT3 |
6774 |
P40763 |
0.00 |
|
MAP3K7 |
6885 |
O43318 |
0.00 |
|
TGFB1 |
7040 |
P01137 |
0.00 |
|
SMURF1 |
57154 |
Q9HCE7 |
0.00 |
|
SMURF2 |
64750 |
Q9HAU4 |
0.00 |
|
C4BPA |
722 |
P04003 |
0.52 |
|
MOS |
4342 |
P00540 |
0.52 |
|
GDF2 |
2658 |
Q9UK05 |
0.56 |
|
BMP10 |
27302 |
O95393 |
0.56 |
|
CES1 |
1066 |
P23141 |
0.59 |
|
MAP3K8 |
1326 |
P41279 |
0.59 |
|
LMX1A |
4009 |
Q8TE12 |
0.59 |
|
LSP1 |
4046 |
P33241 |
0.59 |
|
PRKCB |
5579 |
P05771 |
0.59 |
|
TOPBP1 |
11073 |
Q92547 |
0.59 |
|
TUBB |
203068 |
P07437 |
0.59 |
|
ACVR1B |
91 |
P36896 |
0.63 |
|
XIAP |
331 |
P98170 |
0.63 |
|
CAV1 |
857 |
Q03135 |
0.63 |
|
TSR1 |
55720 |
Q2NL82 |
0.63 |
|
FHL2 |
2274 |
Q14192 |
0.72 |
|
GCGR |
2642 |
P47871 |
0.72 |
|
PRKG1 |
5592 |
Q13976 |
0.72 |
|
CES3 |
23491 |
Q6UWW8 |
0.72 |
|
TRIB3 |
57761 |
Q96RU7 |
0.72 |
|
TGFBR1 |
7046 |
P36897 |
0.73 |
|
BMPR2 |
659 |
Q13873 |
0.77 |
|
CRYAB |
1410 |
P02511 |
0.80 |
|
BMP6 |
654 |
P22004 |
0.83 |
|
ACVR1 |
90 |
Q04771 |
0.86 |
|
BMP7 |
655 |
P18075 |
0.88 |
|
BMP4 |
652 |
P12644 |
0.89 |
|
BMP2 |
650 |
P12643 |
0.90 |
|
ACVR2A |
92 |
P27037 |
0.00 |
|
ACVR2B |
93 |
Q13705 |
0.00 |
|
ARSA |
410 |
P15289 |
0.52 |
|
CTBP1 |
1487 |
Q13363 |
0.52 |
|
FOXL1 |
2300 |
Q12952 |
0.52 |
|
HNRNPR |
10236 |
O43390 |
0.52 |
|
NOP56 |
10528 |
O00567 |
0.52 |
|
LSM10 |
84967 |
Q969L4 |
0.52 |
|
TWF1 |
5756 |
Q12792 |
0.59 |
|
RABGGTA |
5875 |
Q92696 |
0.59 |
|
SULT1E1 |
6783 |
P49888 |
0.59 |
|
TRPC1 |
7220 |
P48995 |
0.59 |
|
MERTK |
10461 |
Q12866 |
0.59 |
|
PDZRN3 |
23024 |
Q9UPQ7 |
0.59 |
|
PMPCA |
23203 |
Q10713 |
0.59 |
|
NBEA |
26960 |
Q8NFP9 |
0.59 |
|
ACTR8 |
93973 |
Q9H981 |
0.59 |
|
CCDC89 |
220388 |
Q8N998 |
0.59 |
|
OC90 |
729330 |
Q02509 |
0.59 |
|
SMAD6 |
4091 |
O43541 |
0.63 |
|
SMAD7 |
4092 |
O15105 |
0.63 |
|
PPP1CC |
5501 |
P36873 |
0.63 |
|
MAPK8 |
5599 |
P45983 |
0.63 |
|
DYNLT1 |
6993 |
P63172 |
0.65 |
|
FST |
10468 |
P19883 |
0.72 |
|
PYCARD |
29108 |
Q9ULZ3 |
0.72 |
|
GDF9 |
2661 |
O60383 |
0.75 |
|
GDF6 |
392255 |
Q6KF10 |
0.75 |
|
LIMK1 |
3984 |
P53667 |
0.77 |
|
FRS3 |
10817 |
O43559 |
0.80 |
|
BMPR1B |
658 |
O00238 |
0.85 |
|
BMPR1A |
657 |
P36894 |
0.87 |
|
GDF5 |
8200 |
P43026 |
0.88 |