|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:TGF-beta_type_II_receptor
gptkb:TGF-beta_receptor_type_II
TGFR-2
|
|
gptkbp:associatedWith
|
gptkb:Loeys-Dietz_syndrome
gptkb:hereditary_nonpolyposis_colorectal_cancer
Marfan syndrome type 2
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for Loeys-Dietz syndrome
genetic testing for Marfan syndrome
genetic testing for hereditary nonpolyposis colorectal cancer
|
|
gptkbp:discoveredBy
|
Massagué J et al.
|
|
gptkbp:encodes
|
TGF-beta receptor type-2 protein
|
|
gptkbp:Entrez_Gene_ID
|
7048
ENSG00000163513
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:firstDescribed
|
1993
|
|
gptkbp:fullName
|
transforming growth factor beta receptor II
|
|
gptkbp:function
|
mediates TGF-beta signaling
serine/threonine kinase receptor
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
gptkb:TGFBR2
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
TGFBR2 gene
|
|
gptkbp:interactsWith
|
gptkb:TGFBR1
gptkb:SMAD_proteins
TGF-beta ligands
|
|
gptkbp:length
|
7 exons
|
|
gptkbp:locatedOnChromosome
|
3
3p24.1
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
frameshift
splice site
cancer predisposition
|
|
gptkbp:OMIM
|
190182
|
|
gptkbp:orthologInMouse
|
Tgfbr2
|
|
gptkbp:pathway
|
gptkb:TGF-beta_signaling_pathway
|
|
gptkbp:proteinFamily
|
gptkb:TGF-beta_receptor_family
serine/threonine kinase domain
|
|
gptkbp:recipient
|
type II receptor
|
|
gptkbp:regulates
|
apoptosis
cell differentiation
cell growth
extracellular matrix production
|
|
gptkbp:UniProtID
|
P37173
|
|
gptkbp:bfsParent
|
gptkb:Loeys-Dietz_syndrome
|
|
gptkbp:bfsLayer
|
7
|