TGF beta receptor 2
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Transforming growth factor, beta receptor II (70/80kDa) is a TGF beta receptor. TGFBR2 is its human gene.
It is a tumor suppressor gene.[1]
Function
[edit | edit source]This gene encodes a member of the serine/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 with Marfan 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.[2] Alternatively spliced transcript variants encoding different isoforms have been characterized.[3]
Interactions
[edit | edit source]TGF beta receptor 2 has been shown to interact with:
Domain architecture
[edit | edit source]| Transforming growth factor beta receptor 2 ectodomain | |||||||||
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| File:PDB 1m9z EBI.jpg 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 a C-terminal protein kinase domain and an N-terminal ectodomain. The ectodomain consists of a compact fold containing nine beta-strands and a single helix stabilised by a network of six intra strand disulphide bonds. The folding topology includes a central five-stranded antiparallel beta-sheet, eight-residues long at its centre, covered by a second layer consisting of two segments of two-stranded antiparallel beta-sheets (beta1-beta4, beta3-beta9).[14]
See also
[edit | edit source]References
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