Transforming growth factor, beta receptor II (70/80kDa) is aTGF beta receptor.TGFBR2 is its humangene.
It is atumor suppressor gene.[5]
This gene encodes a member of theserine/threonine protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. Mutations in this gene have been associated withMarfan syndrome,Loeys-Deitz aortic aneurysm syndrome,Osler–Weber–Rendu syndrome, and the development of various types of tumors. At least 73 disease-causing mutations in this gene have been discovered.[6] Alternatively spliced transcript variants encoding different isoforms have been characterized.[7]
TGF beta receptor 2 has been shown tointeract with:
| Transforming growth factor beta receptor 2 ectodomain | |||||||||
|---|---|---|---|---|---|---|---|---|---|
crystal structure of human tgf-beta type ii receptor ligand binding domain | |||||||||
| Identifiers | |||||||||
| Symbol | ecTbetaR2 | ||||||||
| Pfam | PF08917 | ||||||||
| InterPro | IPR015013 | ||||||||
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TGF beta receptor 2 consists of aC-terminalprotein kinase domain and anN-terminal ectodomain. The ectodomain consists of a compactfold containing nine beta-strands and a singlehelix stabilised by a network of six intra stranddisulphide bonds. Thefolding topology includes a central five-strandedantiparallel beta-sheet, eight-residues long at its centre, covered by a second layer consisting of two segments of two-stranded antiparallelbeta-sheets (beta1-beta4, beta3-beta9).[18]