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Search Result

Gene id

4087

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

SMAD2 Gene UCSC Ensembl

Aliases

JV18, JV18-1, MADH2, MADR2, hMAD-2, hSMAD2

Gene name

SMAD family member 2

Alternate names

mothers against decapentaplegic homolog 2, MAD homolog 2, SMAD, mothers against DPP homolog 2, Sma- and Mad-related protein 2, mother against DPP homolog 2,

Gene location

18q21.1 (92477914: 92468379) Exons: 2 NC_000007.14

Gene summary(Entrez)

The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]

OMIM

601366

Protein Summary

Protein general information

Q15796

Name: Mothers against decapentaplegic homolog 2 (MAD homolog 2) (Mothers against DPP homolog 2) (JV18-1) (Mad-related protein 2) (hMAD-2) (SMAD family member 2) (SMAD 2) (Smad2) (hSMAD2)

Length: 467 Mass: 52,306

Tissue specificity: Expressed at high levels in skeletal muscle, endothelial cells, heart and placenta. {ECO

Sequence

MSSILPFTPPVVKRLLGWKKSAGGSGGAGGGEQNGQEEKWCEKAVKSLVKKLKKTGRLDELEKAITTQNCNTKCV
TIPSTCSEIWGLSTPNTIDQWDTTGLYSFSEQTRSLDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELKAIENCE
YAFNLKKDEVCVNPYHYQRVETPVLPPVLVPRHTEILTELPPLDDYTHSIPENTNFPAGIEPQSNYIPETPPPGY
ISEDGETSDQQLNQSMDTGSPAELSPTTLSPVNHSLDLQPVTYSEPAFWCSIAYYELNQRVGETFHASQPSLTVD
GFTDPSNSERFCLGLLSNVNRNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCK
IPPGCNLKIFNNQEFAALLAQSVNQGFEAVYQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLD
KVLTQMGSPSVRCSSMS

Structural information

Protein Domains	MH1. (10-176) MH2. (274-467)
Motifs	PY-motif. (221-225)
Interpro:	IPR013790 IPR003619 IPR013019 IPR017855 IPR001132 IPR008984 IPR036578
Prosite:	PS51075 PS51076
Pfam:	PF03165 PF03166
PDB:	1DEV 1KHX 1U7V 2LB3
PDBsum:	1DEV 1KHX 1U7V 2LB3
DIP:	29716
MINT:
STRING:	ENSP00000262160;

Other Databases

GeneCards: SMAD2; Malacards: SMAD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	TAS	biological_process
GO:0000790	nuclear chromatin	IDA	cellular_component
GO:0000978	RNA polymerase II core pr omoter proximal region se quence-specific DNA bindi ng	IDA	molecular_function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular_function
GO:0001657	ureteric bud development	IEA	biological_process
GO:0001701	in utero embryonic develo pment	IEA	biological_process
GO:0001706	endoderm formation	IEA	biological_process
GO:0001707	mesoderm formation	ISS	biological_process
GO:0003682	chromatin binding	IEA	molecular_function
GO:0003690	double-stranded DNA bindi ng	ISS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0005160	transforming growth facto r beta receptor binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005667	transcription factor comp lex	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	IDA	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	IMP	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	IDA	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	IDA	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	TAS	biological_process
GO:0007182	common-partner SMAD prote in phosphorylation	IDA	biological_process
GO:0007183	SMAD protein complex asse mbly	IDA	biological_process
GO:0007352	zygotic specification of dorsal/ventral axis	IMP	biological_process
GO:0007369	gastrulation	TAS	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0009749	response to glucose	IEA	biological_process
GO:0009791	post-embryonic developmen t	IEA	biological_process
GO:0009952	anterior/posterior patter n specification	ISS	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	ISS	biological_process
GO:0017015	regulation of transformin g growth factor beta rece ptor signaling pathway	IMP	biological_process
GO:0019902	phosphatase binding	IPI	molecular_function
GO:0023019	signal transduction invol ved in regulation of gene expression	IEA	biological_process
GO:0030073	insulin secretion	IEA	biological_process
GO:0030324	lung development	IEA	biological_process
GO:0030512	negative regulation of tr ansforming growth factor beta receptor signaling p athway	TAS	biological_process
GO:0030513	positive regulation of BM P signaling pathway	IMP	biological_process
GO:0030618	transforming growth facto r beta receptor, pathway- specific cytoplasmic medi ator activity	IDA	molecular_function
GO:0030618	transforming growth facto r beta receptor, pathway- specific cytoplasmic medi ator activity	IDA	molecular_function
GO:0031016	pancreas development	IEA	biological_process
GO:0031053	primary miRNA processing	TAS	biological_process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular_function
GO:0032444	activin responsive factor complex	IDA	cellular_component
GO:0032924	activin receptor signalin g pathway	IMP	biological_process
GO:0033613	activating transcription factor binding	IPI	molecular_function
GO:0034713	type I transforming growt h factor beta receptor bi nding	IPI	molecular_function
GO:0035019	somatic stem cell populat ion maintenance	TAS	biological_process
GO:0035265	organ growth	IEA	biological_process
GO:0035326	enhancer binding	IC	molecular_function
GO:0035556	intracellular signal tran sduction	ISS	biological_process
GO:0038092	nodal signaling pathway	IMP	biological_process
GO:0042803	protein homodimerization activity	IEA	molecular_function
GO:0045165	cell fate commitment	ISS	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	TAS	biological_process
GO:0046332	SMAD binding	IPI	molecular_function
GO:0046872	metal ion binding	IEA	molecular_function
GO:0046982	protein heterodimerizatio n activity	IEA	molecular_function
GO:0048340	paraxial mesoderm morphog enesis	ISS	biological_process
GO:0048617	embryonic foregut morphog enesis	IEA	biological_process
GO:0048701	embryonic cranial skeleto n morphogenesis	IEA	biological_process
GO:0051098	regulation of binding	ISS	biological_process
GO:0060021	palate development	ISS	biological_process
GO:0060039	pericardium development	IEA	biological_process
GO:0060395	SMAD protein signal trans duction	IEA	biological_process
GO:0070410	co-SMAD binding	IPI	molecular_function
GO:0070410	co-SMAD binding	IPI	molecular_function
GO:0070411	I-SMAD binding	IPI	molecular_function
GO:0070412	R-SMAD binding	IPI	molecular_function
GO:0070723	response to cholesterol	IDA	biological_process
GO:0071141	SMAD protein complex	IDA	cellular_component
GO:0071144	SMAD2-SMAD3 protein compl ex	IDA	cellular_component
GO:1900224	positive regulation of no dal signaling pathway inv olved in determination of lateral mesoderm left/ri ght asymmetry	IMP	biological_process
GO:0003677	DNA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	TAS	biological_process
GO:0000790	nuclear chromatin	IDA	cellular_component
GO:0000978	RNA polymerase II core pr omoter proximal region se quence-specific DNA bindi ng	IDA	molecular_function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular_function
GO:0001657	ureteric bud development	IEA	biological_process
GO:0001701	in utero embryonic develo pment	IEA	biological_process
GO:0001706	endoderm formation	IEA	biological_process
GO:0001707	mesoderm formation	IEA	biological_process
GO:0001707	mesoderm formation	ISS	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003682	chromatin binding	IEA	molecular_function
GO:0003690	double-stranded DNA bindi ng	IEA	molecular_function
GO:0003690	double-stranded DNA bindi ng	ISS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0005160	transforming growth facto r beta receptor binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005622	intracellular	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005667	transcription factor comp lex	IEA	cellular_component
GO:0005667	transcription factor comp lex	IEA	cellular_component
GO:0005667	transcription factor comp lex	IDA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0006468	protein phosphorylation	IEA	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	IEA	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	IEA	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	IDA	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	IMP	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	IDA	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	IDA	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	TAS	biological_process
GO:0007182	common-partner SMAD prote in phosphorylation	IDA	biological_process
GO:0007183	SMAD protein complex asse mbly	IDA	biological_process
GO:0007352	zygotic specification of dorsal/ventral axis	IMP	biological_process
GO:0007369	gastrulation	IEA	biological_process
GO:0007369	gastrulation	TAS	biological_process
GO:0007389	pattern specification pro cess	IEA	biological_process
GO:0007492	endoderm development	IEA	biological_process
GO:0007507	heart development	IEA	biological_process
GO:0008134	transcription factor bind ing	IEA	molecular_function
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0009749	response to glucose	IEA	biological_process
GO:0009791	post-embryonic developmen t	IEA	biological_process
GO:0009880	embryonic pattern specifi cation	IEA	biological_process
GO:0009952	anterior/posterior patter n specification	IEA	biological_process
GO:0009952	anterior/posterior patter n specification	ISS	biological_process
GO:0010628	positive regulation of ge ne expression	IEA	biological_process
GO:0010629	negative regulation of ge ne expression	IEA	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	IEA	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	ISS	biological_process
GO:0017015	regulation of transformin g growth factor beta rece ptor signaling pathway	IMP	biological_process
GO:0019902	phosphatase binding	IPI	molecular_function
GO:0023019	signal transduction invol ved in regulation of gene expression	IEA	biological_process
GO:0030073	insulin secretion	IEA	biological_process
GO:0030324	lung development	IEA	biological_process
GO:0030512	negative regulation of tr ansforming growth factor beta receptor signaling p athway	TAS	biological_process
GO:0030513	positive regulation of BM P signaling pathway	IMP	biological_process
GO:0030618	transforming growth facto r beta receptor, pathway- specific cytoplasmic medi ator activity	IDA	molecular_function
GO:0030618	transforming growth facto r beta receptor, pathway- specific cytoplasmic medi ator activity	IDA	molecular_function
GO:0031016	pancreas development	IEA	biological_process
GO:0031053	primary miRNA processing	TAS	biological_process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular_function
GO:0032444	activin responsive factor complex	IDA	cellular_component
GO:0032924	activin receptor signalin g pathway	IMP	biological_process
GO:0033613	activating transcription factor binding	IPI	molecular_function
GO:0034713	type I transforming growt h factor beta receptor bi nding	IPI	molecular_function
GO:0035019	somatic stem cell populat ion maintenance	TAS	biological_process
GO:0035265	organ growth	IEA	biological_process
GO:0035326	enhancer binding	IC	molecular_function
GO:0035556	intracellular signal tran sduction	IEA	biological_process
GO:0035556	intracellular signal tran sduction	ISS	biological_process
GO:0038092	nodal signaling pathway	IMP	biological_process
GO:0042803	protein homodimerization activity	IEA	molecular_function
GO:0043234	protein complex	IEA	cellular_component
GO:0045165	cell fate commitment	IEA	biological_process
GO:0045165	cell fate commitment	ISS	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	TAS	biological_process
GO:0046332	SMAD binding	IEA	molecular_function
GO:0046332	SMAD binding	IPI	molecular_function
GO:0046872	metal ion binding	IEA	molecular_function
GO:0046982	protein heterodimerizatio n activity	IEA	molecular_function
GO:0048340	paraxial mesoderm morphog enesis	IEA	biological_process
GO:0048340	paraxial mesoderm morphog enesis	ISS	biological_process
GO:0048589	developmental growth	IEA	biological_process
GO:0048617	embryonic foregut morphog enesis	IEA	biological_process
GO:0048701	embryonic cranial skeleto n morphogenesis	IEA	biological_process
GO:0051098	regulation of binding	IEA	biological_process
GO:0051098	regulation of binding	ISS	biological_process
GO:0060021	palate development	IEA	biological_process
GO:0060021	palate development	ISS	biological_process
GO:0060039	pericardium development	IEA	biological_process
GO:0060395	SMAD protein signal trans duction	IEA	biological_process
GO:0070410	co-SMAD binding	IPI	molecular_function
GO:0070410	co-SMAD binding	IPI	molecular_function
GO:0070411	I-SMAD binding	IPI	molecular_function
GO:0070412	R-SMAD binding	IPI	molecular_function
GO:0070723	response to cholesterol	IDA	biological_process
GO:0071141	SMAD protein complex	IDA	cellular_component
GO:0071144	SMAD2-SMAD3 protein compl ex	IDA	cellular_component
GO:1900224	positive regulation of no dal signaling pathway inv olved in determination of lateral mesoderm left/ri ght asymmetry	IMP	biological_process
GO:0003677	DNA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	TAS	biological_process
GO:0000790	nuclear chromatin	IDA	cellular_component
GO:0000978	RNA polymerase II core pr omoter proximal region se quence-specific DNA bindi ng	IDA	molecular_function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular_function
GO:0001707	mesoderm formation	ISS	biological_process
GO:0003690	double-stranded DNA bindi ng	ISS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0005160	transforming growth facto r beta receptor binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005667	transcription factor comp lex	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0007179	transforming growth facto r beta receptor signaling pathway	IDA	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	IMP	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	IDA	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	IDA	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	TAS	biological_process
GO:0007182	common-partner SMAD prote in phosphorylation	IDA	biological_process
GO:0007183	SMAD protein complex asse mbly	IDA	biological_process
GO:0007352	zygotic specification of dorsal/ventral axis	IMP	biological_process
GO:0007369	gastrulation	TAS	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0009952	anterior/posterior patter n specification	ISS	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	ISS	biological_process
GO:0017015	regulation of transformin g growth factor beta rece ptor signaling pathway	IMP	biological_process
GO:0019902	phosphatase binding	IPI	molecular_function
GO:0030512	negative regulation of tr ansforming growth factor beta receptor signaling p athway	TAS	biological_process
GO:0030513	positive regulation of BM P signaling pathway	IMP	biological_process
GO:0030618	transforming growth facto r beta receptor, pathway- specific cytoplasmic medi ator activity	IDA	molecular_function
GO:0030618	transforming growth facto r beta receptor, pathway- specific cytoplasmic medi ator activity	IDA	molecular_function
GO:0031053	primary miRNA processing	TAS	biological_process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular_function
GO:0032444	activin responsive factor complex	IDA	cellular_component
GO:0032924	activin receptor signalin g pathway	IMP	biological_process
GO:0033613	activating transcription factor binding	IPI	molecular_function
GO:0034713	type I transforming growt h factor beta receptor bi nding	IPI	molecular_function
GO:0035019	somatic stem cell populat ion maintenance	TAS	biological_process
GO:0035326	enhancer binding	IC	molecular_function
GO:0035556	intracellular signal tran sduction	ISS	biological_process
GO:0038092	nodal signaling pathway	IMP	biological_process
GO:0045165	cell fate commitment	ISS	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	TAS	biological_process
GO:0046332	SMAD binding	IPI	molecular_function
GO:0048340	paraxial mesoderm morphog enesis	ISS	biological_process
GO:0051098	regulation of binding	ISS	biological_process
GO:0060021	palate development	ISS	biological_process
GO:0070410	co-SMAD binding	IPI	molecular_function
GO:0070410	co-SMAD binding	IPI	molecular_function
GO:0070411	I-SMAD binding	IPI	molecular_function
GO:0070412	R-SMAD binding	IPI	molecular_function
GO:0070723	response to cholesterol	IDA	biological_process
GO:0071141	SMAD protein complex	IDA	cellular_component
GO:0071144	SMAD2-SMAD3 protein compl ex	IDA	cellular_component
GO:1900224	positive regulation of no dal signaling pathway inv olved in determination of lateral mesoderm left/ri ght asymmetry	IMP	biological_process
GO:0003677	DNA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function

Diseases

Associated diseases	References
Cleft lip with cleft palate	PMID: 20634891
Colorectal cancer	PMID: 12202987
Endometriosis	PMID: 26708185
Esophageal adenocarcinoma	PMID: 20453000
Hepatopulmonary Syndrome	PMID: 20346360
Hypertension	PMID: 19211612
Inflammatory bowel disease	PMID: 18949743
Endometriosis	INFBASE26708185
Obesity	PMID: 20734064
Pancreatic carcinoma	PMID: 19351817

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
26708185	Endometrio sis			33 (13 women wi th ovarian endo metriosis (case s), 10 eutopic endometria, 10 women with non endometriotic d iseases (contro ls))		HtrA1 TGFb1 pSmad and Ki67	Show abstract