|
gptkbp:instanceOf
|
gptkb:protein
gptkb:gene
|
|
gptkbp:alias
|
MADH6
Mothers against decapentaplegic homolog 6
SMAD family member 6
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:chromosomeArm
|
15q22.31
|
|
gptkbp:discoveredIn
|
1997
|
|
gptkbp:encodes
|
SMAD6 protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:SMAD6
4091
ENSG00000137834
|
|
gptkbp:expressedIn
|
gptkb:cancer
gptkb:skeletal_muscle
gptkb:kidney
heart
liver
|
|
gptkbp:family
|
gptkb:SMAD_family
|
|
gptkbp:fullName
|
SMAD family member 6
|
|
gptkbp:function
|
inhibitor of TGF-beta signaling
negative regulator of BMP signaling
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:6770
|
|
gptkbp:inhibitedBy
|
gptkb:SMAD4
SMAD1/5/8 phosphorylation
|
|
gptkbp:length
|
496 amino acids
|
|
gptkbp:locatedOnChromosome
|
15
|
|
gptkbp:molecularWeight
|
53 kDa
|
|
gptkbp:mutationAssociatedWith
|
congenital heart defects
aortic valve disease
craniosynostosis
|
|
gptkbp:OMIM
|
602931
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Smad6
|
|
gptkbp:PDB
|
2K4F
|
|
gptkbp:proteinFamily
|
MH1 domain
MH2 domain
|
|
gptkbp:RefSeq
|
NM_005585
|
|
gptkbp:regulates
|
gptkb:BMP_signaling_pathway
gptkb:TGF-beta_signaling_pathway
|
|
gptkbp:relatedTo
|
gptkb:SMAD2
gptkb:SMAD3
gptkb:SMAD1
gptkb:SMAD5
gptkb:SMAD7
gptkb:SMAD9
gptkb:SMAD4
|
|
gptkbp:UniProtID
|
O43541
|
|
gptkbp:bfsParent
|
gptkb:SMAD_family
gptkb:SMAD
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SMAD6
|