TGF-beta receptor type-2; transforming growth factor-beta receptor type II; TGF-beta receptor type II; TGF-beta type II receptor; TbetaR-II; TGFR-2 (TGFBR2)

Function

• receptor for TGF-beta
• TGF-beta receptor-1 & TGF-beta receptor-2 form heteromeric complex after binding of TGF-beta
• on ligand binding, forms a receptor complex consisting of two type II & two type I transmembrane S/T kinases
• the type II receptors phosphorylate & activate type I receptors which autophosphorylate, then bind & activate SMAD transcriptional regulators
• binds to DAXX
• interacts with TCTEX1D4
• associates with betaglycan
• phosphorylated on a Ser/Thr residue in the cytoplasmic domain
• TGF-beta receptor-1 & TGF-beta receptor-2 form heteromeric complex after binding of TGF-beta

Cofactor: Mg+2 or Mn+2 (putative)

Structure

• belongs to the protein kinase superfamily, TKL Ser/Thr protein kinase family, TGFB receptor subfamily
• contains 1 protein kinase domain

Compartment

membrane

Alternative splicing

named isoforms=2

Pathology

• defects in TGFBR2 are the cause of cancer syndromes
  • hereditary nonpolyposis colorectal cancer type 6
  • esophageal cancer
• defects in TGFBR1 are the cause of syndromes associated with aortic aneurysm
  • Loeys-Dietz syndrome type 1B
  • Loeys-Dietz syndrome type 2B
  • aortic aneurysm familial thoracic type 3

More general terms

• protein subunit
• tgf beta receptor
• serine/threonine kinase receptor
• glycoprotein
• phosphoprotein

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:7048
• OMIM: https://mirror.omim.org/entry/133239
• OMIM: https://mirror.omim.org/entry/190182
• OMIM: https://mirror.omim.org/entry/610168
• OMIM: https://mirror.omim.org/entry/610380
• UniProt: http://www.uniprot.org/uniprot/P37173.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7048