Antigen Record Ag003832

AgACCAg003832
Date19-08-2008
Last updated14-12-2016
Antigen NameTGFBR2
Common NameTGF-beta receptor type IIB
Full NameTGF-beta receptor type II
SynonymTGF-beta receptor type IIB; TGF-beta receptor type-2 precursor; TGF-beta type II receptor; Transforming growth factor-beta receptor type II; transforming growth factor beta receptor type IIC; transforming growth factor, beta receptor II; transforming growth factor, beta receptor II (70-80kD); transforming growth factor, beta receptor II (70/80kDa); AAT3; EC 2.7.11.30; FAA3; HNPCC6; MFS2; RIIC 2; TAAD2; TGFR-2; TGFBR2; TGFbeta-RII; TbetaR-II

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  • TGF-beta receptor type IIB
  • TGF-beta receptor type-2 precursor
  • TGF-beta type II receptor
  • Transforming growth factor-beta receptor type II
  • transforming growth factor beta receptor type IIC
  • transforming growth factor, beta receptor II
  • transforming growth factor, beta receptor II (70-80kD)
  • transforming growth factor, beta receptor II (70/80kDa)
  • AAT3
  • EC 2.7.11.30
  • FAA3
  • HNPCC6
  • MFS2
  • RIIC 2
  • TAAD2
  • TGFR-2
  • TGFBR2
  • TGFbeta-RII
  • TbetaR-II
UniProt IDP37173
NCBI Gene ID7048
GeneCard IDGC03P030623
SwissProt VARIANT IDVAR_029761
CommentAortic aneurysm familial thoracic type 3 (AAT3) - Defects in TGFBR2 are the cause of aortic aneurysm familial thoracic type 3. Aneurysms and dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic aortic aneurysms and dissections are primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. AAT3 is an autosomal dominant disorder with reduced penetrance and variable expression
AnnotationThis is a fragment sequence.
IsoformsAg000303,  Ag000304

Alignment of all Isoforms
Mutation entriesAg000564,  Ag000565,  Ag000566,  Ag003816,  Ag003817,  Ag003818,  Ag003819,  Ag003820,  Ag003821,  Ag003822,  Ag003823,  Ag003824,  Ag003825,  Ag003826,  Ag003827,  Ag003828,  Ag003829,  Ag003830,  Ag003831,  Ag003832,  Ag003833,  Ag003834,  Ag003835,  Ag003836

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RNA/protein expression profileRNA and protein Expression profile
Predicted HLA binders
Allele:  predictions
Peptide length:   
Reference sequenceESFKQTDVYSMALVLWEMTSRCNAVGEVKDYEPPFGSKVRE
Antigen sequenceESFKQTDVYSMALVLWEMTSHCNAVGEVKDYEPPFGSKVRE