|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:DPC4
gptkb:MADH4
gptkb:Mothers_against_decapentaplegic_homolog_4
|
|
gptkbp:associatedWith
|
gptkb:juvenile_polyposis_syndrome
gptkb:hereditary_hemorrhagic_telangiectasia
colorectal cancer
pancreatic cancer
gastrointestinal cancer
|
|
gptkbp:clinicalTrialPhase
|
cancer predisposition panel
genetic testing for juvenile polyposis
|
|
gptkbp:discoveredBy
|
gptkb:Yuet_Wai_Kan
|
|
gptkbp:discoveredIn
|
1996
|
|
gptkbp:encodes
|
gptkb:SMAD4_protein
|
|
gptkbp:Entrez_Gene_ID
|
4089
|
|
gptkbp:expressedIn
|
many tissues
|
|
gptkbp:function
|
transcription factor
mediates TGF-beta signaling
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasPseudogene
|
none
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
6770
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SMAD4 gene
|
|
gptkbp:interactsWith
|
gptkb:SMAD2
gptkb:SMAD3
gptkb:EP300
gptkb:TGFBR2
gptkb:RUNX3
gptkb:SMAD7
gptkb:TGFBR1
gptkb:p53
|
|
gptkbp:involves
|
gptkb:BMP_signaling_pathway
gptkb:TGF-beta_signaling_pathway
|
|
gptkbp:locatedOnChromosome
|
gptkb:18q21.2
gptkb:chromosome_18
|
|
gptkbp:mutationAssociatedWith
|
loss-of-function
tumor suppressor inactivation
|
|
gptkbp:OMIM
|
600993
|
|
gptkbp:orthologInDrosophila
|
gptkb:Medea
|
|
gptkbp:orthologInMouse
|
gptkb:Smad4
|
|
gptkbp:orthologInZebrafish
|
gptkb:smad4a
|
|
gptkbp:proteinFamily
|
gptkb:SMAD_family
MH1 domain
MH2 domain
|
|
gptkbp:regulates
|
apoptosis
cell proliferation
differentiation
phosphorylation
sumoylation
ubiquitination
|
|
gptkbp:UniProtID
|
gptkb:Q13485
|
|
gptkbp:bfsParent
|
gptkb:HHT
gptkb:hereditary_hemorrhagic_telangiectasia
|
|
gptkbp:bfsLayer
|
6
|