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 |
|---|---|---|---|---|---|
OMIM IDMIM:190182 Ensembl IDEnsembl:ENSG00000163513 HGNC IDHGNC:HGNC:11773 PHARMGKB IDPA36486 Map Location3p24.1 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TGFBR2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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