BMPR2 | ENSG00000204217 | NCBI 659

Details for: BMPR2

Gene ID: 659

Symbol: BMPR2

Ensembl ID: ENSG00000204217

Description: bone morphogenetic protein receptor type 2

Associated with

Signaling by bmp
(R-HSA-201451)
Signaling by tgfb family members
(R-HSA-9006936)
Signal transduction
(R-HSA-162582)
Activin receptor activity, type ii
(GO:0016362)
Activin receptor signaling pathway
(GO:0032924)
Adherens junction
(GO:0005912)
Anterior/posterior pattern specification
(GO:0009952)
Aortic valve development
(GO:0003176)
Apical plasma membrane
(GO:0016324)
Artery development
(GO:0060840)
Atp binding
(GO:0005524)
Atrial septum morphogenesis
(GO:0060413)
Atrioventricular valve morphogenesis
(GO:0003181)
Axon
(GO:0030424)
Basal plasma membrane
(GO:0009925)
Blood vessel development
(GO:0001568)
Blood vessel remodeling
(GO:0001974)
Bmp binding
(GO:0036122)
Bmp receptor activity
(GO:0098821)
Bmp signaling pathway
(GO:0030509)
Cadherin binding
(GO:0045296)
Cardiac muscle tissue development
(GO:0048738)
Caveola
(GO:0005901)
Cell surface
(GO:0009986)
Cell surface receptor protein serine/threonine kinase signaling pathway
(GO:0007178)
Cellular response to bmp stimulus
(GO:0071773)
Cellular response to growth factor stimulus
(GO:0071363)
Cellular response to starvation
(GO:0009267)
Chondrocyte development
(GO:0002063)
Clathrin-coated pit
(GO:0005905)
Dendrite
(GO:0030425)
Endocardial cushion development
(GO:0003197)
Endochondral bone morphogenesis
(GO:0060350)
Endothelial cell apoptotic process
(GO:0072577)
Endothelial cell proliferation
(GO:0001935)
Extracellular space
(GO:0005615)
Growth factor binding
(GO:0019838)
Limb development
(GO:0060173)
Lung alveolus development
(GO:0048286)
Lung vasculature development
(GO:0060426)
Lymphangiogenesis
(GO:0001946)
Lymphatic endothelial cell differentiation
(GO:0060836)
Maternal placenta development
(GO:0001893)
Mesoderm formation
(GO:0001707)
Metal ion binding
(GO:0046872)
Mitral valve morphogenesis
(GO:0003183)
Negative regulation of cell growth
(GO:0030308)
Negative regulation of cell proliferation involved in heart valve morphogenesis
(GO:0003252)
Negative regulation of chondrocyte proliferation
(GO:1902731)
Negative regulation of muscle cell differentiation
(GO:0051148)
Negative regulation of smooth muscle cell proliferation
(GO:0048662)
Negative regulation of systemic arterial blood pressure
(GO:0003085)
Negative regulation of vasoconstriction
(GO:0045906)
Neuronal cell body
(GO:0043025)
Nucleoplasm
(GO:0005654)
Osteoblast differentiation
(GO:0001649)
Outflow tract morphogenesis
(GO:0003151)
Outflow tract septum morphogenesis
(GO:0003148)
Pharyngeal arch artery morphogenesis
(GO:0061626)
Plasma membrane
(GO:0005886)
Positive regulation of axon extension involved in axon guidance
(GO:0048842)
Positive regulation of bone mineralization
(GO:0030501)
Positive regulation of cartilage development
(GO:0061036)
Positive regulation of epithelial cell migration
(GO:0010634)
Positive regulation of gene expression
(GO:0010628)
Positive regulation of ossification
(GO:0045778)
Positive regulation of osteoblast differentiation
(GO:0045669)
Positive regulation of smad protein signal transduction
(GO:0060391)
Positive regulation of transcription by rna polymerase ii
(GO:0045944)
Postsynaptic density
(GO:0014069)
Protein binding
(GO:0005515)
Protein phosphorylation
(GO:0006468)
Protein tyrosine kinase binding
(GO:1990782)
Proteoglycan biosynthetic process
(GO:0030166)
Pulmonary valve development
(GO:0003177)
Receptor complex
(GO:0043235)
Regulation of cell population proliferation
(GO:0042127)
Regulation of lung blood pressure
(GO:0014916)
Retina vasculature development in camera-type eye
(GO:0061298)
Semi-lunar valve development
(GO:1905314)
Transforming growth factor beta receptor activity
(GO:0005024)
Tricuspid valve morphogenesis
(GO:0003186)
Venous blood vessel development
(GO:0060841)
Ventricular septum morphogenesis
(GO:0060412)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 1.54
Cell Significance Index: 2
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 1.37
Cell Significance Index: 2
Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 1.22
Cell Significance Index: 2
Cell Name: neoplastic cell (CL0001063)
Fold Change: 1.1
Cell Significance Index: 1
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 1.07
Cell Significance Index: 1
Cell Name: forebrain neuroblast (CL1000042)
Fold Change: 1.06
Cell Significance Index: 1
Cell Name: retinal progenitor cell (CL0002672)
Fold Change: 1.03
Cell Significance Index: 1
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 1.03
Cell Significance Index: 1
Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 1.03
Cell Significance Index: 1
Cell Name: cortical interneuron (CL0008031)
Fold Change: 1.02
Cell Significance Index: 1
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 1.02
Cell Significance Index: 1
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 1.01
Cell Significance Index: 1
Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 1
Cell Significance Index: 1
Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 1
Cell Significance Index: 1
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 1
Cell Significance Index: 1
Cell Name: lung endothelial cell (CL1001567)
Fold Change: 1
Cell Significance Index: 1
Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 1
Cell Significance Index: 1
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 1
Cell Significance Index: 1
Cell Name: endothelial cell of placenta (CL0009092)
Fold Change: 1
Cell Significance Index: 1
Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: preadipocyte (CL0002334)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: radial glial cell (CL0000681)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: Hofbauer cell (CL3000001)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: umbrella cell of urothelium (CL4030056)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: glioblast (CL0000030)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: epidermal cell (CL0000362)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: epithelial cell of sweat gland (CL1000448)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: sebaceous gland cell (CL2000021)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: epidermal Langerhans cell (CL0002457)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: helper T cell (CL0000912)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: skeletal muscle fibroblast (CL0011027)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: midget ganglion cell of retina (CL4023188)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: cerebellar granule cell (CL0001031)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: OFF midget ganglion cell (CL4033047)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: extravillous trophoblast (CL0008036)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: endothelial cell of venule (CL1000414)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: perivascular cell (CL4033054)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: tuft cell of small intestine (CL0009080)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: Merkel cell (CL0000242)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: neuroblast (sensu Nematoda and Protostomia) (CL0000338)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: hippocampal granule cell (CL0001033)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: cardiac muscle cell (CL0000746)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: ON midget ganglion cell (CL4033046)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: neuron (CL0000540)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: regular ventricular cardiac myocyte (CL0002131)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: cell (CL0000000)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: neural cell (CL0002319)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: astrocyte (CL0000127)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: chondroblast (CL0000058)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: muscle fibroblast (CL1001609)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: VIP GABAergic cortical interneuron (CL4023016)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: granular cell of epidermis (CL0002189)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: bronchial epithelial cell (CL0002328)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: Purkinje cell (CL0000121)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: skeletal muscle myoblast (CL0000515)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: peridermal cell (CL0000078)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: microcirculation associated smooth muscle cell (CL0008035)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: glutamatergic neuron (CL0000679)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: articular chondrocyte (CL1001607)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: hypertrophic chondrocyte (CL0000743)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: mesenchymal cell (CL0008019)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: chandelier cell (CL4023083)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: malignant cell (CL0001064)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: cerebral cortex neuron (CL0010012)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: corneal epithelial cell (CL0000575)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: melanocyte of skin (CL1000458)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: microglial cell (CL0000129)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: epithelial cell of proximal tubule (CL0002306)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: basal-myoepithelial cell of mammary gland (CL0002324)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: GABAergic neuron (CL0000617)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: kidney collecting duct principal cell (CL1001431)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: oligodendrocyte (CL0000128)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: syncytiotrophoblast cell (CL0000525)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: respiratory epithelial cell (CL0002368)
Fold Change: 0.98
Cell Significance Index: 1
Cell Name: pulmonary alveolar type 2 cell (CL0002063)
Fold Change: 0.98
Cell Significance Index: 1

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Other Information

Description

**Key Characteristics** BMPR2 is a transmembrane receptor serine/threonine kinase, consisting of an extracellular ligand-binding domain, a transmembrane domain, and an intracellular tyrosine kinase domain. The receptor is characterized by its high degree of homology with other TGF-β receptors, but possesses distinct differences in its extracellular and intracellular domains. BMPR2 is a ligand-independent kinase, meaning it can phosphorylate and activate Smad proteins without the presence of its ligand, BMPs. **Pathways and Functions** BMPR2 signaling pathways are crucial for the regulation of various cellular processes, including: 1. **Cell growth and differentiation**: BMPR2 signaling regulates the proliferation and differentiation of cells in various tissues, including the cardiovascular system, lung, and bone. 2. **Cell migration and adhesion**: BMPR2 signaling influences cell migration and adhesion, which are essential for tissue development and repair. 3. **Angiogenesis**: BMPR2 signaling promotes angiogenesis, the formation of new blood vessels, which is critical for tissue growth and development. 4. **Apoptosis**: BMPR2 signaling regulates apoptosis, or programmed cell death, which is essential for maintaining tissue homeostasis. 5. **Inflammation**: BMPR2 signaling modulates inflammatory responses, which are critical for protecting against tissue damage. **Clinical Significance** Mutations in the BMPR2 gene have been identified as a primary cause of: 1. **Pulmonary Arterial Hypertension (PAH)**: A severe and life-threatening disease characterized by high blood pressure in the arteries that supply blood to the lungs. 2. **Idiopathic Pulmonary Arterial Hypertension (IPAH)**: A subtype of PAH with no identifiable underlying cause. 3. **Heritable PAH**: A subtype of PAH caused by genetic mutations in the BMPR2 gene or other genes involved in TGF-β signaling. In addition to its role in PAH, BMPR2 signaling has been implicated in other diseases, including: 1. **Cardiovascular disease**: BMPR2 signaling regulates cardiovascular development and function, and mutations in the BMPR2 gene have been associated with cardiovascular disease. 2. **Osteoporosis**: BMPR2 signaling regulates bone metabolism, and mutations in the BMPR2 gene have been associated with osteoporosis. 3. **Fibrosis**: BMPR2 signaling regulates fibrosis, or excessive scarring, which is a hallmark of various diseases, including PAH and cardiovascular disease. In conclusion, BMPR2 is a critical receptor in the TGF-β superfamily, playing a pivotal role in various cellular processes, including cell growth, differentiation, and development. Mutations in the BMPR2 gene have been identified as a primary cause of PAH, and the receptor's signaling pathways have been implicated in other diseases, including cardiovascular disease, osteoporosis, and fibrosis.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.