Ph: 001020018

TGF beta receptor 2

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Transforming growth factor, beta receptor II (70/80kDa)
PDB rendering based on 1ktz.
Available structures: 1ktz, 1m9z, 1plo
Identifiers
Symbols TGFBR2; AAT3; FAA3; HNPCC6; MFS2; RIIC; TAAD2; TGFR-2; TGFbeta-RII
External IDs OMIM: 190182 MGI98729 HomoloGene2435
RNA expression pattern
Orthologs
Human Mouse
Refseq NM_001024847 (mRNA)
NP_001020018 (protein)
NM_009371 (mRNA)
NP_033397 (protein)
Pubmed search [1] [2]

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]

This gene encodes a member of the Ser/Thr 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. Alternatively spliced transcript variants encoding different isoforms have been characterized.[2]

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