TGFBR2

Aliases 
AAT3; FAA3; MFS2; RIIC; LDS1B; LDS2B; TAAD2; TGFR-2; TGFbeta-RII
Chromosomal Locations 
3p22

 

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, and the development of various types of tumors.
 
Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]

 

Description 
TGF-beta receptor type-2 tbetaR-II TGF-beta receptor type II TGF-beta type II receptor TGF-beta receptor type IIB transforming growth factor-beta receptor type II transforming growth factor beta receptor type IIC transforming growth factor, beta receptor II (70/80kDa) isoform 1 transforming growth factor, beta receptor II (70/80kDa) isoform 2
Tests 
Marfan Syndrome Next-Gen Sequencing Panel