Transforming Growth Factor Beta Receptor II (TGFbR2)

MFS2

SPN	T834
HGNC	11773
MGI	98729
PubMed	18781618
RGD	69651
UniProt	P37173
Wiki	TGFBR2

TGFBR2 is a tumor suppressor gene.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.

Reference

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Erratum
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