TGFBR2
Summary: The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Aug 2017].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| transforming growth factor beta receptor 2 | MIM:190182 | Ensembl:ENSG00000163513 | HGNC:HGNC:11773 | PA36486 | 3p24.1 |
GO terms in TGFBR2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0001568 | blood vessel development |
| BP | ISS | GO:0001569 | branching involved in blood vessel morphogenesis |
| BP | ISS | GO:0001570 | vasculogenesis |
| BP | IEA | GO:0001666 | response to hypoxia |
| BP | IEA | GO:0001701 | in utero embryonic development |
| BP | ISS | GO:0001947 | heart looping |
| BP | ISS | GO:0002053 | positive regulation of mesenchymal cell proliferation |
| BP | IEA | GO:0002088 | lens development in camera-type eye |
| BP | ISS | GO:0002651 | positive regulation of tolerance induction to self antigen |
| BP | ISS | GO:0002663 | positive regulation of B cell tolerance induction |
| BP | ISS | GO:0002666 | positive regulation of T cell tolerance induction |
| BP | ISS | GO:0003148 | outflow tract septum morphogenesis |
| BP | ISS | GO:0003149 | membranous septum morphogenesis |
| BP | ISS | GO:0003151 | outflow tract morphogenesis |
| BP | ISS | GO:0003181 | atrioventricular valve morphogenesis |
| BP | ISS | GO:0003186 | tricuspid valve morphogenesis |
| BP | ISS | GO:0003214 | cardiac left ventricle morphogenesis |
| BP | ISS | GO:0003274 | endocardial cushion fusion |
| BP | IEA | GO:0003430 | growth plate cartilage chondrocyte growth |
| BP | IDA | GO:0006468 | protein phosphorylation |
| BP | IEA | GO:0006898 | receptor-mediated endocytosis |
| BP | IDA | GO:0006915 | apoptotic process |
| BP | IBA | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | IC | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | IDA | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | IMP | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | TAS | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | IEA | GO:0007182 | common-partner SMAD protein phosphorylation |
| BP | IEA | GO:0007219 | Notch signaling pathway |
| BP | IEA | GO:0007224 | smoothened signaling pathway |
| BP | IEA | GO:0007369 | gastrulation |
| BP | IBA | GO:0007389 | pattern specification process |
| BP | ISS | GO:0007420 | brain development |
| BP | IBA | GO:0007507 | heart development |
| BP | ISS | GO:0007507 | heart development |
| BP | IEA | GO:0007566 | embryo implantation |
| BP | IEA | GO:0007568 | aging |
| BP | IEA | GO:0007584 | response to nutrient |
| BP | TAS | GO:0008284 | positive regulation of cell proliferation |
| BP | IEA | GO:0009612 | response to mechanical stimulus |
| BP | IEA | GO:0009749 | response to glucose |
| BP | IEA | GO:0010468 | regulation of gene expression |
| BP | IEA | GO:0010634 | positive regulation of epithelial cell migration |
| BP | IDA | GO:0010718 | positive regulation of epithelial to mesenchymal transition |
| BP | IDA | GO:0018105 | peptidyl-serine phosphorylation |
| BP | IDA | GO:0018107 | peptidyl-threonine phosphorylation |
| BP | TAS | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway |
| BP | IEA | GO:0031100 | animal organ regeneration |
| BP | ISS | GO:0032147 | activation of protein kinase activity |
| BP | IBA | GO:0032924 | activin receptor signaling pathway |
| BP | ISS | GO:0035162 | embryonic hemopoiesis |
| BP | IEA | GO:0042060 | wound healing |
| BP | ISS | GO:0042127 | regulation of cell proliferation |
| BP | IDA | GO:0042493 | response to drug |
| BP | ISS | GO:0043011 | myeloid dendritic cell differentiation |
| BP | IEA | GO:0043415 | positive regulation of skeletal muscle tissue regeneration |
| BP | IEA | GO:0043627 | response to estrogen |
| BP | IEA | GO:0045766 | positive regulation of angiogenesis |
| BP | IEA | GO:0048545 | response to steroid hormone |
| BP | IEA | GO:0048565 | digestive tract development |
| BP | IEA | GO:0048661 | positive regulation of smooth muscle cell proliferation |
| BP | ISS | GO:0048701 | embryonic cranial skeleton morphogenesis |
| BP | ISS | GO:0051138 | positive regulation of NK T cell differentiation |
| BP | IEA | GO:0060044 | negative regulation of cardiac muscle cell proliferation |
| BP | IDA | GO:0060389 | pathway-restricted SMAD protein phosphorylation |
| BP | ISS | GO:0060412 | ventricular septum morphogenesis |
| BP | IEA | GO:0060434 | bronchus morphogenesis |
| BP | IEA | GO:0060440 | trachea formation |
| BP | IEA | GO:0060443 | mammary gland morphogenesis |
| BP | IEA | GO:0060463 | lung lobe morphogenesis |
| BP | ISS | GO:0062009 | secondary palate development |
| BP | IDA | GO:0070723 | response to cholesterol |
| BP | ISS | GO:1905007 | positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation |
| BP | ISS | GO:1905315 | cell proliferation involved in endocardial cushion morphogenesis |
| BP | ISS | GO:1905316 | superior endocardial cushion morphogenesis |
| BP | ISS | GO:1905317 | inferior endocardial cushion morphogenesis |
| BP | IEA | GO:1990086 | lens fiber cell apoptotic process |
| BP | ISS | GO:1990428 | miRNA transport |
| BP | IMP | GO:2000379 | positive regulation of reactive oxygen species metabolic process |
| BP | IDA | GO:2000563 | positive regulation of CD4-positive, alpha-beta T cell proliferation |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0005887 | integral component of plasma membrane |
| CC | IDA | GO:0005901 | caveola |
| CC | IDA | GO:0009897 | external side of plasma membrane |
| CC | IDA | GO:0016021 | integral component of membrane |
| CC | IBA | GO:0043235 | receptor complex |
| CC | IDA | GO:0043235 | receptor complex |
| CC | IDA | GO:0045121 | membrane raft |
| CC | IBA | GO:0048179 | activin receptor complex |
| CC | IC | GO:0070022 | transforming growth factor beta receptor complex |
| MF | IDA | GO:0004675 | transmembrane receptor protein serine/threonine kinase activity |
| MF | IBA | GO:0005024 | transforming growth factor beta-activated receptor activity |
| MF | IC | GO:0005024 | transforming growth factor beta-activated receptor activity |
| MF | IDA | GO:0005024 | transforming growth factor beta-activated receptor activity |
| MF | IMP | GO:0005024 | transforming growth factor beta-activated receptor activity |
| MF | IBA | GO:0005026 | transforming growth factor beta receptor activity, type II |
| MF | IEA | GO:0005026 | transforming growth factor beta receptor activity, type II |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IDA | GO:0005539 | glycosaminoglycan binding |
| MF | IBA | GO:0019838 | growth factor binding |
| MF | IEA | GO:0031435 | mitogen-activated protein kinase kinase kinase binding |
| MF | IBA | GO:0034713 | type I transforming growth factor beta receptor binding |
| MF | IPI | GO:0034713 | type I transforming growth factor beta receptor binding |
| MF | IBA | GO:0046332 | SMAD binding |
| MF | IDA | GO:0046332 | SMAD binding |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IBA | GO:0048185 | activin binding |
| MF | IDA | GO:0050431 | transforming growth factor beta binding |
| MF | IPI | GO:0050431 | transforming growth factor beta binding |
| MF | IPI | GO:0050431 | transforming growth factor beta binding |
Gene expression in normal tissue: TGFBR2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TGFBR2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2001 | miR-targeted genes in adipocytes - TarBase |
| wikipathways | WP2002 | miR-targeted genes in epithelium - TarBase |
| wikipathways | WP2004 | miR-targeted genes in lymphocytes - TarBase |
| wikipathways | WP2005 | miR-targeted genes in muscle cell - TarBase |
| wikipathways | WP2006 | miR-targeted genes in squamous cell - TarBase |
| wikipathways | WP2870 | Extracellular vesicle-mediated signaling in recipient cells |
| wikipathways | WP2882 | Nuclear Receptors Meta-Pathway |
| wikipathways | WP2884 | NRF2 pathway |
| wikipathways | WP366 | TGF-beta Signaling Pathway |
| wikipathways | WP3668 | Hypothesized Pathways in Pathogenesis of Cardiovascular Disease |
| wikipathways | WP382 | MAPK Signaling Pathway |
| wikipathways | WP3874 | Canonical and Non-Canonical TGF-B signaling |
| wikipathways | WP4216 | Chromosomal and microsatellite instability in colorectal cancer |
| wikipathways | WP4239 | EMT transition in Colorectal Cancer |
| wikipathways | WP560 | TGF-beta Receptor Signaling |
| netpath | Pathway_TGF_beta_Receptor | TGF_beta_Receptor |
| pid | alk1pathway | ALK1 signaling events |
| pid | avb3_integrin_pathway | Integrins in angiogenesis |
| pid | glypican_1pathway | Glypican 1 network |
| pid | integrin3_pathway | Beta3 integrin cell surface interactions |
| pid | tgfbrpathway | TGF-beta receptor signaling |
| kegg | hsa04010 | MAPK signaling pathway - Homo sapiens (human) |
| kegg | hsa04060 | Cytokine-cytokine receptor interaction - Homo sapiens (human) |
| kegg | hsa04068 | FoxO signaling pathway - Homo sapiens (human) |
| kegg | hsa04144 | Endocytosis - Homo sapiens (human) |
| kegg | hsa04218 | Cellular senescence - Homo sapiens (human) |
| kegg | hsa04350 | TGF-beta signaling pathway - Homo sapiens (human) |
| kegg | hsa04380 | Osteoclast differentiation - Homo sapiens (human) |
| kegg | hsa04390 | Hippo signaling pathway - Homo sapiens (human) |
| kegg | hsa04520 | Adherens junction - Homo sapiens (human) |
| kegg | hsa04659 | Th17 cell differentiation - Homo sapiens (human) |
| kegg | hsa04926 | Relaxin signaling pathway - Homo sapiens (human) |
| kegg | hsa04933 | AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human) |
| kegg | hsa05142 | Chagas disease (American trypanosomiasis) - Homo sapiens (human) |
| kegg | hsa05166 | HTLV-I infection - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05202 | Transcriptional misregulation in cancer - Homo sapiens (human) |
| kegg | hsa05210 | Colorectal cancer - Homo sapiens (human) |
| kegg | hsa05212 | Pancreatic cancer - Homo sapiens (human) |
| kegg | hsa05220 | Chronic myeloid leukemia - Homo sapiens (human) |
| kegg | hsa05225 | Hepatocellular carcinoma - Homo sapiens (human) |
| kegg | hsa05226 | Gastric cancer - Homo sapiens (human) |
| biocarta | alkpathway | alk in cardiac myocytes |
| biocarta | ctcfpathway | ctcf: first multivalent nuclear factor |
| biocarta | nthipathway | nfkb activation by nontypeable hemophilus influenzae |
| biocarta | tgfbpathway | tgf beta signaling pathway |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-170834 | Signaling by TGF-beta Receptor Complex |
| reactome | R-HSA-170834 | Signaling by TGF-beta Receptor Complex |
| reactome | R-HSA-2173788 | Downregulation of TGF-beta receptor signaling |
| reactome | R-HSA-2173788 | Downregulation of TGF-beta receptor signaling |
| reactome | R-HSA-2173789 | TGF-beta receptor signaling activates SMADs |
| reactome | R-HSA-2173789 | TGF-beta receptor signaling activates SMADs |
| reactome | R-HSA-2173791 | TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) |
| reactome | R-HSA-2173791 | TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) |
| reactome | R-HSA-3304349 | Loss of Function of SMAD2/3 in Cancer |
| reactome | R-HSA-3304351 | Signaling by TGF-beta Receptor Complex in Cancer |
| reactome | R-HSA-3304356 | SMAD2/3 Phosphorylation Motif Mutants in Cancer |
| reactome | R-HSA-3315487 | SMAD2/3 MH2 Domain Mutants in Cancer |
| reactome | R-HSA-3642278 | Loss of Function of TGFBR2 in Cancer |
| reactome | R-HSA-3642279 | TGFBR2 MSI Frameshift Mutants in Cancer |
| reactome | R-HSA-3645790 | TGFBR2 Kinase Domain Mutants in Cancer |
| reactome | R-HSA-3656532 | TGFBR1 KD Mutants in Cancer |
| reactome | R-HSA-3656534 | Loss of Function of TGFBR1 in Cancer |
| reactome | R-HSA-3656535 | TGFBR1 LBD Mutants in Cancer |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-5663202 | Diseases of signal transduction |
| reactome | R-HSA-5688426 | Deubiquitination |
| reactome | R-HSA-5689603 | UCH proteinases |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-9006936 | Signaling by TGF-beta family members |
| reactome | R-HSA-9006936 | Signaling by TGF-beta family members |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD874 | BRD8958 | 2 |
| iGMDRD398 | Sepantronium | 2 |
| iGMDRD318 | PAC-1 | 3 |
| iGMDRD260 | FQI-2 | 3 |
| iGMDRD138 | PX 12 | 6 |
| iGMDRD474 | Avrainvillamide | 4 |
| iGMDRD280 | CYTOCHALASIN B | 6 |
| iGMDRD394 | BX-795 | 3 |
| iGMDRD679 | Bistramide A | 3 |
| iGMDRD639 | YK 4-279 | 2 |
| iGMDRD61 | Kinetin riboside | 1 |
| iGMDRD152 | 179324-69-7 | 2 |
| iGMDRD494 | Neopeltolide | 2 |
| iGMDRD599 | Salermide | 2 |
| iGMDRD387 | CHIR-99021 | 1 |
| iGMDRD151 | CHM-1 | 3 |
| iGMDRD554 | CHEMBL1434137 | 2 |
| iGMDRD433 | Lexibulin | 3 |
| iGMDRD353 | PD0325901 | 2 |
| iGMDRD82 | Quiflapon | 2 |
| iGMDRD246 | NPC26 | 3 |
| iGMDRD366 | PI-103 | 2 |
| iGMDRD367 | Ro 28-1675 | 3 |
| iGMDRD871 | BRD6368 | 1 |
| iGMDRD872 | BRD7137 | 4 |
| iGMDRD77 | Itraconazole | 2 |
| iGMDRD231 | Importazole | 1 |
| iGMDRD6 | AM-580 | 3 |
| iGMDRD434 | BMS-536924 | 2 |
| iGMDRD202 | Curcumin | 4 |
| iGMDRD158 | NSC141540 | 4 |
| iGMDRD154 | NSC23766 | 2 |
| iGMDRD211 | (1S,3R)-RSL3 | 1 |
| iGMDRD57 | Chloropentafluorobenzene | 4 |
| iGMDRD314 | Tanespimycin | 4 |
| iGMDRD79 | Gemcitabine | 3 |
| iGMDRD512 | nutlin 3 | 1 |
| iGMDRD84 | Lovastatin acid | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TGFBR2
CLASSFICATION
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