Transforming growth factor, beta receptor II (70/80kDa) is a TGF beta receptor. TGFBR2 is its human gene.
TGFBR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | TGFBR2, AAT3, FAA3, LDS1B, LDS2, LDS2B, MFS2, RIIC, TAAD2, TGFR-2, TGFbeta-RII, transforming growth factor beta receptor 2, TBR-ii, TBRII | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 190182 MGI: 98729 HomoloGene: 2435 GeneCards: TGFBR2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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It is a tumor suppressor gene.[5]
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.[6] Alternatively spliced transcript variants encoding different isoforms have been characterized.[7]
TGF beta receptor 2 has been shown to interact with:
Transforming growth factor beta receptor 2 ectodomain | |||||||||
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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).[18]