Antigen Record Ag003819

AgACCAg003819
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_022351
CommentLoeys-Dietz syndrome type 2B (LDS2B) - Defects in TGFBR2 are the cause of Loeys-Dietz syndrome type 2B; formerly Marfan syndrome type 2. LDS2 is an aortic aneurysm syndrome with widespread systemic involvement. Physical findings include prominent joint laxity, easy bruising, wide and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or bowel, diffuse arterial aneurysms and dissections, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. LDS2 is characterized by the absence of craniofacial abnormalities with the exception of bifid uvula that can be present in some patients; Has a negative effect on TGF-beta signaling
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 sequenceKTEKDIFSDINLKHENILQFLTAEERKTELGKQYWLITAFH
Antigen sequenceKTEKDIFSDINLKHENILQFPTAEERKTELGKQYWLITAFH