Antigen Record Ag003822

AgACCAg003822
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

another display format
  • 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_022353
CommentLoeys-Dietz syndrome type 1B (LDS1B) - Defects in TGFBR2 are the cause of Loeys-Dietz syndrome type 1B . LDS1 is an aortic aneurysm syndrome with widespread systemic involvement. The disorder is characterized by arterial tortuosity and aneurysms, craniosynostosis, hypertelorism, and bifid uvula or cleft palate. Other findings include exotropy, micrognathia and retrognathia, structural brain abnormalities, intellectual deficit, congenital heart disease, translucent skin, joint hyperlaxity and aneurysm with dissection throughout the arterial tree
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 sequenceEYLTRHVISWEDLRKLGSSLARGIAHLHSDHTPCGRPKMPI
Antigen sequenceEYLTRHVISWEDLRKLGSSLPRGIAHLHSDHTPCGRPKMPI