|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:JV15-2
gptkb:MADH3
hMAD-3
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Loeys-Dietz_syndrome_type_3
osteoarthritis
aneurysm
|
|
gptkbp:biologicalProcess
|
apoptosis
cell proliferation
differentiation
DNA binding
transcription factor activity
|
|
gptkbp:clinicalTrialPhase
|
genetic testing available
|
|
gptkbp:discoveredBy
|
Ying E Zhang et al.
|
|
gptkbp:encodes
|
SMAD3 protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:SMAD3
4088
ENSG00000166949
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:firstDescribed
|
1996
|
|
gptkbp:function
|
signal transduction
transcription regulation
|
|
gptkbp:HGNC_ID
|
6769
|
|
gptkbp:interactsWith
|
gptkb:SMAD4_protein
TGF-beta receptors
|
|
gptkbp:involvedIn
|
gptkb:TGF-beta_signaling_pathway
|
|
gptkbp:length
|
425 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_15
15q22.33
|
|
gptkbp:memberOf
|
gptkb:SMAD_family
|
|
gptkbp:mutationAssociatedWith
|
connective tissue disorders
|
|
gptkbp:nuclearTranslocation
|
upon phosphorylation
|
|
gptkbp:OMIM
|
603109
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Smad3
|
|
gptkbp:pathway
|
TGF-beta/SMAD signaling
|
|
gptkbp:phosphorylates
|
C-terminal SSXS motif
|
|
gptkbp:product
|
SMAD3 protein
|
|
gptkbp:RefSeq
|
NM_005902
|
|
gptkbp:regulates
|
gene expression
activated by TGF-beta receptors
|
|
gptkbp:relatedTo
|
gptkb:cancer
gptkb:immune_response
fibrosis
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
gptkb:cytoplasm
|
|
gptkbp:UniProtID
|
P84022
|
|
gptkbp:bfsParent
|
gptkb:Loeys-Dietz_syndrome
gptkb:Mothers_against_decapentaplegic_homolog_3
gptkb:SMAD_family_member_3
gptkb:hSMAD3
|
|
gptkbp:bfsLayer
|
8
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SMAD3 gene
|