MultifacetedProtDB - Bologna Biocomputing Group

Structure

GO term

GO ontology	GO term	GO description
Biological Process	GO:0030509	BMP signaling pathway
Biological Process	GO:0060395	SMAD protein signal transduction
Biological Process	GO:0009653	anatomical structure morphogenesis
Biological Process	GO:0035904	aorta development
Biological Process	GO:0003180	aortic valve morphogenesis
Biological Process	GO:0030154	cell differentiation
Biological Process	GO:0031589	cell-substrate adhesion
Biological Process	GO:0060976	coronary vasculature development
Biological Process	GO:0045444	fat cell differentiation
Biological Process	GO:0006955	immune response
Biological Process	GO:0003183	mitral valve morphogenesis
Biological Process	GO:0030514	negative regulation of BMP signaling pathway
Biological Process	GO:0010991	negative regulation of SMAD protein complex assembly
Biological Process	GO:0043066	negative regulation of apoptotic process
Biological Process	GO:0008285	negative regulation of cell population proliferation
Biological Process	GO:0030279	negative regulation of ossification
Biological Process	GO:0045668	negative regulation of osteoblast differentiation
Biological Process	GO:0060394	negative regulation of pathway-restricted SMAD protein phosphorylation
Biological Process	GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway
Biological Process	GO:0003148	outflow tract septum morphogenesis
Biological Process	GO:1902895	positive regulation of miRNA transcription
Biological Process	GO:0003184	pulmonary valve morphogenesis
Biological Process	GO:0006357	regulation of transcription by RNA polymerase II
Biological Process	GO:0043627	response to estrogen
Biological Process	GO:0034616	response to laminar fluid shear stress
Biological Process	GO:0032496	response to lipopolysaccharide
Biological Process	GO:0007179	transforming growth factor beta receptor signaling pathway
Biological Process	GO:0001657	ureteric bud development
Biological Process	GO:0003281	ventricular septum development
Biological Process	GO:0007352	zygotic specification of dorsal/ventral axis
Molecular Function	GO:0070411	I-SMAD binding
Molecular Function	GO:0070412	R-SMAD binding
Molecular Function	GO:0003682	chromatin binding
Molecular Function	GO:0070410	co-SMAD binding
Molecular Function	GO:0042802	identical protein binding
Molecular Function	GO:0046872	metal ion binding
Molecular Function	GO:0000976	transcription cis-regulatory region binding
Molecular Function	GO:0140416	transcription regulator inhibitor activity
Molecular Function	GO:0070698	type I activin receptor binding
Molecular Function	GO:0034713	type I transforming growth factor beta receptor binding
Molecular Function	GO:0031625	ubiquitin protein ligase binding
Cellular Component	GO:0005794	Golgi apparatus
Cellular Component	GO:0000785	chromatin
Cellular Component	GO:0005737	cytoplasm
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0071144	heteromeric SMAD protein complex
Cellular Component	GO:0016604	nuclear body
Cellular Component	GO:0005654	nucleoplasm
Cellular Component	GO:0005634	nucleus
Cellular Component	GO:0032991	protein-containing complex

InterPro / Pfam

InterPro	InterPro name
IPR001132	SMAD domain, Dwarfin-type
IPR003619	MAD homology 1, Dwarfin-type
IPR008984	SMAD/FHA domain superfamily
IPR013019	MAD homology, MH1
IPR013790	Dwarfin
IPR017855	SMAD-like domain superfamily
IPR036578	SMAD MH1 domain superfamily

Pfam	Pfam name
PF03165	MH1 domain
PF03166	MH2 domain

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-201451	Signaling by BMP	Leaf	R-HSA-162582	Signal Transduction
R-HSA-8941326	RUNX2 regulates bone development	Internal node	R-HSA-74160	Gene expression (Transcription)

Subcellular location

Location	ECO term	Pubmed
Nucleus	ECO:0000269	PubMed:16491121

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000006	Autosomal dominant inheritance
HP:0000750	Delayed speech and language development
HP:0000822	Hypertension
HP:0001363	Craniosynostosis
HP:0001642	Pulmonic stenosis
HP:0001647	Bicuspid aortic valve
HP:0001650	Aortic valve stenosis
HP:0001653	Mitral regurgitation
HP:0001655	Patent foramen ovale
HP:0001659	Aortic regurgitation
HP:0001680	Coarctation of aorta
HP:0002974	Radioulnar synostosis
HP:0003577	Congenital onset
HP:0004380	Aortic valve calcification
HP:0004383	Hypoplastic left heart
HP:0004933	Ascending aortic dissection
HP:0004942	Aortic aneurysm
HP:0004962	Thoracic aorta calcification
HP:0004963	Calcification of the aorta
HP:0005113	Aortic arch aneurysm
HP:0006394	Limited pronation/supination of forearm
HP:0006687	Aortic tortuosity
HP:0011103	Abnormal left ventricular outflow tract morphology
HP:0012758	Neurodevelopmental delay
HP:0030148	Heart murmur
HP:4000158	Typified by high penetrance

Tissue and cell type

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
esophageal atresia/tracheoesophageal fistula	MONDO:0008586	Q39	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:189960	Orphanet:1199
aortic valve disease 2	MONDO:0013902	Q23	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:614823
congenital radioulnar synostosis	MONDO:0017985	Q74	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:3269
aortic valve disease 1	MONDO:0024523	Q23	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:109730
craniosynostosis 7	MONDO:0044315	Q75	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:617439

Summary of O43541

Gene: SMAD6, MADH6
Protein: Mothers against decapentaplegic homolog 6

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of O43541

Gene: SMAD6, MADH6 Protein: Mothers against decapentaplegic homolog 6

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: SMAD6, MADH6
Protein: Mothers against decapentaplegic homolog 6