|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
CEDM
LDS4
TGF-β2
Transforming growth factor-beta-2
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Loeys-Dietz_syndrome_type_4
gptkb:TGFB3_gene
TGFB1 gene
Marfan syndrome-like disorder
|
|
gptkbp:biologicalProcess
|
apoptosis
cell proliferation
signal transduction
growth factor activity
cytokine activity
extracellular matrix production
|
|
gptkbp:discoveredBy
|
multiple researchers
|
|
gptkbp:encodes
|
TGF-beta 2
|
|
gptkbp:Entrez_Gene_ID
|
ENSG00000163513
7042
|
|
gptkbp:firstDescribed
|
1988
|
|
gptkbp:fullName
|
transforming growth factor beta 2
|
|
gptkbp:function
|
regulation of cell differentiation
regulation of cell growth
regulation of immune system
regulation of embryogenesis
|
|
gptkbp:HGNC_ID
|
HGNC:11769
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
TGFB2 gene
|
|
gptkbp:locatedOnChromosome
|
chromosome 1
1q41
|
|
gptkbp:mutationAssociatedWith
|
aortic aneurysm
craniofacial abnormalities
arterial tortuosity
|
|
gptkbp:OMIM
|
190220
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Tgfb2
|
|
gptkbp:pathway
|
gptkb:TGF-beta_signaling_pathway
SMAD signaling pathway
|
|
gptkbp:proteinFamily
|
gptkb:TGF-beta_superfamily
|
|
gptkbp:tissue_specificity
|
gptkb:cancer
gptkb:skeletal_muscle
gptkb:kidney
brain
heart
|
|
gptkbp:UniProtID
|
P61812
|
|
gptkbp:bfsParent
|
gptkb:Loeys-Dietz_syndrome
|
|
gptkbp:bfsLayer
|
7
|