Endometriosis Knowledgebase

Search Result

Gene id

4089

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

SMAD4 Gene UCSC Ensembl

Aliases

DPC4, JIP, MADH4, MYHRS

Gene name

SMAD family member 4

Alternate names

mothers against decapentaplegic homolog 4, MAD homolog 4, SMAD, mothers against DPP homolog 4, deleted in pancreatic carcinoma locus 4, deletion target in pancreatic carcinoma 4, mothers against decapentaplegic, Drosophila, homolog of, 4,

Gene location

18q21.2 (51030212: 51085041) Exons: 12 NC_000018.10

Gene summary(Entrez)

This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to TGF-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq, Oct 2009]

OMIM

600993

Protein Summary

Protein general information

Q13485

Name: Mothers against decapentaplegic homolog 4 (MAD homolog 4) (Mothers against DPP homolog 4) (Deletion target in pancreatic carcinoma 4) (SMAD family member 4) (SMAD 4) (Smad4) (hSMAD4)

Length: 552 Mass: 60,439

Sequence

MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITAITTNGAHPSKCVTIQ
RTLDGRLQVAGRKGFPHVIYARLWRWPDLHKNELKHVKYCQYAFDLKCDSVCVNPYHYERVVSPGIDLSGLTLQS
NAPSSMMVKDEYVHDFEGQPSLSTEGHSIQTIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQP
ASILGGSHSEGLLQIASGPQPGQQQNGFTGQPATYHHNSTTTWTGSRTAPYTPNLPHHQNGHLQHHPPMPPHPGH
YWPVHNELAFQPPISNHPAPEYWCSIAYFEMDVQVGETFKVPSSCPIVTVDGYVDPSGGDRFCLGQLSNVHRTEA
IERARLHIGKGVQLECKGEGDVWVRCLSDHAVFVQSYYLDREAGRAPGDAVHKIYPSAYIKVFDLRQCHRQMQQQ
AATAQAAAAAQAAAVAGNIPGPGSVGGIAPAISLSAAAGIGVDDLRRLCILRMSFVKGWGPDYPRQSIKETPCWI
EIHLHRALQLLDEVLHTMPIADPQPLD

Structural information

Protein Domains	MH1. (18-142) MH2. (323-552)
Interpro:	IPR013790 IPR003619 IPR013019 IPR017855 IPR001132 IPR008984
Prosite:	PS51075 PS51076
Pfam:	PF03165 PF03166
PDB:	1DD1 1G88 1MR1 1U7F 1U7V 1YGS 5C4V
PDBsum:	1DD1 1G88 1MR1 1U7F 1U7V 1YGS 5C4V
DIP:	31512
MINT:	244037
STRING:	ENSP00000341551;

Other Databases

GeneCards: SMAD4; Malacards: SMAD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
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:0000987	core promoter proximal re gion sequence-specific DN A binding	IDA	molecular_function
GO:0001076	transcription factor acti vity, RNA polymerase II t ranscription factor bindi ng	IEA	molecular_function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular_function
GO:0001085	RNA polymerase II transcr iption factor binding	IEA	molecular_function
GO:0001541	ovarian follicle developm ent	IEA	biological_process
GO:0001658	branching involved in ure teric bud morphogenesis	IEA	biological_process
GO:0001666	response to hypoxia	IMP	biological_process
GO:0001701	in utero embryonic develo pment	IEA	biological_process
GO:0001702	gastrulation with mouth f orming second	IEA	biological_process
GO:0003190	atrioventricular valve fo rmation	IEA	biological_process
GO:0003198	epithelial to mesenchymal transition involved in e ndocardial cushion format ion	IEA	biological_process
GO:0003251	positive regulation of ce ll proliferation involved in heart valve morphogen esis	IEA	biological_process
GO:0003279	cardiac septum developmen t	IEA	biological_process
GO:0003360	brainstem development	IEA	biological_process
GO:0003682	chromatin binding	IEA	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:0005518	collagen binding	IEA	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: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:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005667	transcription factor comp lex	IPI	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:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0006879	cellular iron ion homeost asis	ISS	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	ISS	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:0007183	SMAD protein complex asse mbly	IDA	biological_process
GO:0007283	spermatogenesis	IEA	biological_process
GO:0007338	single fertilization	IEA	biological_process
GO:0007411	axon guidance	IEA	biological_process
GO:0007492	endoderm development	IEA	biological_process
GO:0007498	mesoderm development	IEA	biological_process
GO:0008283	cell proliferation	IEA	biological_process
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	ISS	biological_process
GO:0010862	positive regulation of pa thway-restricted SMAD pro tein phosphorylation	ISS	biological_process
GO:0014033	neural crest cell differe ntiation	IEA	biological_process
GO:0017015	regulation of transformin g growth factor beta rece ptor signaling pathway	IMP	biological_process
GO:0030308	negative regulation of ce ll growth	IDA	biological_process
GO:0030509	BMP signaling pathway	ISS	biological_process
GO:0030509	BMP signaling pathway	IDA	biological_process
GO:0030509	BMP signaling pathway	TAS	biological_process
GO:0030511	positive regulation of tr ansforming growth factor beta receptor signaling p athway	IDA	biological_process
GO:0030513	positive regulation of BM P signaling pathway	IMP	biological_process
GO:0030616	transforming growth facto r beta receptor, common-p artner cytoplasmic mediat or activity	IDA	molecular_function
GO:0032444	activin responsive factor complex	IDA	cellular_component
GO:0032525	somite rostral/caudal axi s specification	IEA	biological_process
GO:0032909	regulation of transformin g growth factor beta2 pro duction	IMP	biological_process
GO:0033686	positive regulation of lu teinizing hormone secreti on	IEA	biological_process
GO:0035019	somatic stem cell populat ion maintenance	TAS	biological_process
GO:0035556	intracellular signal tran sduction	IMP	biological_process
GO:0036302	atrioventricular canal de velopment	IEA	biological_process
GO:0042118	endothelial cell activati on	IEA	biological_process
GO:0042733	embryonic digit morphogen esis	IEA	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045892	negative 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: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	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	TAS	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0046881	positive regulation of fo llicle-stimulating hormon e secretion	IEA	biological_process
GO:0046982	protein heterodimerizatio n activity	IEA	molecular_function
GO:0048589	developmental growth	IEA	biological_process
GO:0048663	neuron fate commitment	IEA	biological_process
GO:0048733	sebaceous gland developme nt	IEA	biological_process
GO:0048859	formation of anatomical b oundary	IEA	biological_process
GO:0051098	regulation of binding	IEA	biological_process
GO:0051571	positive regulation of hi stone H3-K4 methylation	ISS	biological_process
GO:0051797	regulation of hair follic le development	IEA	biological_process
GO:0060021	palate development	ISS	biological_process
GO:0060065	uterus development	IEA	biological_process
GO:0060391	positive regulation of SM AD protein import into nu cleus	ISS	biological_process
GO:0060395	SMAD protein signal trans duction	IDA	biological_process
GO:0060395	SMAD protein signal trans duction	IDA	biological_process
GO:0060548	negative regulation of ce ll death	IEA	biological_process
GO:0060956	endocardial cell differen tiation	IEA	biological_process
GO:0061040	female gonad morphogenesi s	IEA	biological_process
GO:0070102	interleukin-6-mediated si gnaling pathway	ISS	biological_process
GO:0070411	I-SMAD binding	IPI	molecular_function
GO:0070412	R-SMAD binding	IPI	molecular_function
GO:0070412	R-SMAD binding	IPI	molecular_function
GO:0070412	R-SMAD binding	IPI	molecular_function
GO:0070412	R-SMAD binding	IPI	molecular_function
GO:0071141	SMAD protein complex	IDA	cellular_component
GO:0071559	response to transforming growth factor beta	IDA	biological_process
GO:0071773	cellular response to BMP stimulus	NAS	biological_process
GO:0072133	metanephric mesenchyme mo rphogenesis	IEA	biological_process
GO:0072134	nephrogenic mesenchyme mo rphogenesis	IEA	biological_process
GO:0072520	seminiferous tubule devel opment	IEA	biological_process
GO:1901522	positive regulation of tr anscription from RNA poly merase II promoter involv ed in cellular response t o chemical stimulus	TAS	biological_process
GO:2000617	positive regulation of hi stone H3-K9 acetylation	ISS	biological_process
GO:0000988	transcription factor acti vity, protein binding	IDA	molecular_function
GO:0003677	DNA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	TAS	biological_process
GO:0000790	nuclear chromatin	IDA	cellular_component
GO:0000977	RNA polymerase II regulat ory region sequence-speci fic DNA binding	IEA	molecular_function
GO:0000978	RNA polymerase II core pr omoter proximal region se quence-specific DNA bindi ng	IDA	molecular_function
GO:0000987	core promoter proximal re gion sequence-specific DN A binding	IDA	molecular_function
GO:0001076	transcription factor acti vity, RNA polymerase II t ranscription factor bindi ng	IEA	molecular_function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular_function
GO:0001085	RNA polymerase II transcr iption factor binding	IEA	molecular_function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IEA	molecular_function
GO:0001541	ovarian follicle developm ent	IEA	biological_process
GO:0001658	branching involved in ure teric bud morphogenesis	IEA	biological_process
GO:0001666	response to hypoxia	IMP	biological_process
GO:0001701	in utero embryonic develo pment	IEA	biological_process
GO:0001702	gastrulation with mouth f orming second	IEA	biological_process
GO:0001822	kidney development	IEA	biological_process
GO:0003190	atrioventricular valve fo rmation	IEA	biological_process
GO:0003198	epithelial to mesenchymal transition involved in e ndocardial cushion format ion	IEA	biological_process
GO:0003251	positive regulation of ce ll proliferation involved in heart valve morphogen esis	IEA	biological_process
GO:0003279	cardiac septum developmen t	IEA	biological_process
GO:0003360	brainstem development	IEA	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003682	chromatin binding	IEA	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	IEA	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:0005518	collagen binding	IEA	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: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: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	IPI	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: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:0006357	regulation of transcripti on from RNA polymerase II promoter	IEA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0006879	cellular iron ion homeost asis	IEA	biological_process
GO:0006879	cellular iron ion homeost asis	ISS	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	ISS	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:0007183	SMAD protein complex asse mbly	IDA	biological_process
GO:0007283	spermatogenesis	IEA	biological_process
GO:0007338	single fertilization	IEA	biological_process
GO:0007369	gastrulation	IEA	biological_process
GO:0007411	axon guidance	IEA	biological_process
GO:0007492	endoderm development	IEA	biological_process
GO:0007498	mesoderm development	IEA	biological_process
GO:0008283	cell proliferation	IEA	biological_process
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0008584	male gonad development	IEA	biological_process
GO:0008585	female gonad development	IEA	biological_process
GO:0009952	anterior/posterior patter n specification	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:0010862	positive regulation of pa thway-restricted SMAD pro tein phosphorylation	IEA	biological_process
GO:0010862	positive regulation of pa thway-restricted SMAD pro tein phosphorylation	ISS	biological_process
GO:0014033	neural crest cell differe ntiation	IEA	biological_process
GO:0017015	regulation of transformin g growth factor beta rece ptor signaling pathway	IMP	biological_process
GO:0030308	negative regulation of ce ll growth	IDA	biological_process
GO:0030509	BMP signaling pathway	IEA	biological_process
GO:0030509	BMP signaling pathway	ISS	biological_process
GO:0030509	BMP signaling pathway	IDA	biological_process
GO:0030509	BMP signaling pathway	TAS	biological_process
GO:0030511	positive regulation of tr ansforming growth factor beta receptor signaling p athway	IDA	biological_process
GO:0030513	positive regulation of BM P signaling pathway	IMP	biological_process
GO:0030616	transforming growth facto r beta receptor, common-p artner cytoplasmic mediat or activity	IDA	molecular_function
GO:0032444	activin responsive factor complex	IDA	cellular_component
GO:0032525	somite rostral/caudal axi s specification	IEA	biological_process
GO:0032909	regulation of transformin g growth factor beta2 pro duction	IMP	biological_process
GO:0033686	positive regulation of lu teinizing hormone secreti on	IEA	biological_process
GO:0035019	somatic stem cell populat ion maintenance	TAS	biological_process
GO:0035556	intracellular signal tran sduction	IMP	biological_process
GO:0036302	atrioventricular canal de velopment	IEA	biological_process
GO:0042118	endothelial cell activati on	IEA	biological_process
GO:0042127	regulation of cell prolif eration	IEA	biological_process
GO:0042733	embryonic digit morphogen esis	IEA	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042803	protein homodimerization activity	IEA	molecular_function
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	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	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: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	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	TAS	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0046881	positive regulation of fo llicle-stimulating hormon e secretion	IEA	biological_process
GO:0046982	protein heterodimerizatio n activity	IEA	molecular_function
GO:0048589	developmental growth	IEA	biological_process
GO:0048663	neuron fate commitment	IEA	biological_process
GO:0048729	tissue morphogenesis	IEA	biological_process
GO:0048733	sebaceous gland developme nt	IEA	biological_process
GO:0048859	formation of anatomical b oundary	IEA	biological_process
GO:0051098	regulation of binding	IEA	biological_process
GO:0051571	positive regulation of hi stone H3-K4 methylation	IEA	biological_process
GO:0051571	positive regulation of hi stone H3-K4 methylation	ISS	biological_process
GO:0051797	regulation of hair follic le development	IEA	biological_process
GO:0060021	palate development	IEA	biological_process
GO:0060021	palate development	ISS	biological_process
GO:0060065	uterus development	IEA	biological_process
GO:0060391	positive regulation of SM AD protein import into nu cleus	IEA	biological_process
GO:0060391	positive regulation of SM AD protein import into nu cleus	ISS	biological_process
GO:0060395	SMAD protein signal trans duction	IDA	biological_process
GO:0060395	SMAD protein signal trans duction	IDA	biological_process
GO:0060548	negative regulation of ce ll death	IEA	biological_process
GO:0060956	endocardial cell differen tiation	IEA	biological_process
GO:0061040	female gonad morphogenesi s	IEA	biological_process
GO:0070102	interleukin-6-mediated si gnaling pathway	IEA	biological_process
GO:0070102	interleukin-6-mediated si gnaling pathway	ISS	biological_process
GO:0070411	I-SMAD binding	IPI	molecular_function
GO:0070412	R-SMAD binding	IPI	molecular_function
GO:0070412	R-SMAD binding	IPI	molecular_function
GO:0070412	R-SMAD binding	IPI	molecular_function
GO:0070412	R-SMAD binding	IPI	molecular_function
GO:0071141	SMAD protein complex	IDA	cellular_component
GO:0071559	response to transforming growth factor beta	IDA	biological_process
GO:0071773	cellular response to BMP stimulus	NAS	biological_process
GO:0072133	metanephric mesenchyme mo rphogenesis	IEA	biological_process
GO:0072134	nephrogenic mesenchyme mo rphogenesis	IEA	biological_process
GO:0072520	seminiferous tubule devel opment	IEA	biological_process
GO:0090575	RNA polymerase II transcr iption factor complex	IEA	cellular_component
GO:1901522	positive regulation of tr anscription from RNA poly merase II promoter involv ed in cellular response t o chemical stimulus	TAS	biological_process
GO:2000617	positive regulation of hi stone H3-K9 acetylation	IEA	biological_process
GO:2000617	positive regulation of hi stone H3-K9 acetylation	ISS	biological_process
GO:0000988	transcription factor acti vity, protein binding	IDA	molecular_function
GO:0003677	DNA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
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:0000987	core promoter proximal re gion sequence-specific DN A binding	IDA	molecular_function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular_function
GO:0001666	response to hypoxia	IMP	biological_process
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: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:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005667	transcription factor comp lex	IPI	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:0006879	cellular iron ion homeost asis	ISS	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	ISS	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:0007183	SMAD protein complex asse mbly	IDA	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	ISS	biological_process
GO:0010862	positive regulation of pa thway-restricted SMAD pro tein phosphorylation	ISS	biological_process
GO:0017015	regulation of transformin g growth factor beta rece ptor signaling pathway	IMP	biological_process
GO:0030308	negative regulation of ce ll growth	IDA	biological_process
GO:0030509	BMP signaling pathway	ISS	biological_process
GO:0030509	BMP signaling pathway	IDA	biological_process
GO:0030509	BMP signaling pathway	TAS	biological_process
GO:0030511	positive regulation of tr ansforming growth factor beta receptor signaling p athway	IDA	biological_process
GO:0030513	positive regulation of BM P signaling pathway	IMP	biological_process
GO:0030616	transforming growth facto r beta receptor, common-p artner cytoplasmic mediat or activity	IDA	molecular_function
GO:0032444	activin responsive factor complex	IDA	cellular_component
GO:0032909	regulation of transformin g growth factor beta2 pro duction	IMP	biological_process
GO:0035019	somatic stem cell populat ion maintenance	TAS	biological_process
GO:0035556	intracellular signal tran sduction	IMP	biological_process
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045892	negative 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: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	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	TAS	biological_process
GO:0051571	positive regulation of hi stone H3-K4 methylation	ISS	biological_process
GO:0060021	palate development	ISS	biological_process
GO:0060391	positive regulation of SM AD protein import into nu cleus	ISS	biological_process
GO:0060395	SMAD protein signal trans duction	IDA	biological_process
GO:0060395	SMAD protein signal trans duction	IDA	biological_process
GO:0070102	interleukin-6-mediated si gnaling pathway	ISS	biological_process
GO:0070411	I-SMAD binding	IPI	molecular_function
GO:0070412	R-SMAD binding	IPI	molecular_function
GO:0070412	R-SMAD binding	IPI	molecular_function
GO:0070412	R-SMAD binding	IPI	molecular_function
GO:0070412	R-SMAD binding	IPI	molecular_function
GO:0071141	SMAD protein complex	IDA	cellular_component
GO:0071559	response to transforming growth factor beta	IDA	biological_process
GO:0071773	cellular response to BMP stimulus	NAS	biological_process
GO:1901522	positive regulation of tr anscription from RNA poly merase II promoter involv ed in cellular response t o chemical stimulus	TAS	biological_process
GO:2000617	positive regulation of hi stone H3-K9 acetylation	ISS	biological_process
GO:0000988	transcription factor acti vity, protein binding	IDA	molecular_function
GO:0003677	DNA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function

KEGG pathways

hsa05200  Pathways in cancer
hsa05166  HTLV-I infection
hsa05161  Hepatitis B
hsa04068  FoxO signaling pathway
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04659  Th17 cell differentiation
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa04390  Hippo signaling pathway
hsa04110  Cell cycle
hsa04371  Apelin signaling pathway
hsa05220  Chronic myeloid leukemia
hsa05212  Pancreatic cancer
hsa05210  Colorectal cancer
hsa04350  TGF-beta signaling pathway
hsa04520  Adherens junction
hsa04310  Wnt signaling pathway
PTHR13703:SF23  Wnt signaling pathway
PTHR13703:SF23  Wnt signaling pathway
PTHR13703:SF45  Wnt signaling pathway
PTHR13703:SF45  Wnt signaling pathway
PTHR13703:SF36  Wnt signaling pathway
PTHR13703:SF36  Wnt signaling pathway

Diseases

Associated diseases	References
Colorectal cancer	KEGG: H00020
Diabetes	PMID: 19247629
Endometriosis	PMID: 25228630
Hereditary hemorrhagic telangiectasia	KEGG: H00533
Hypertension	PMID: 19211612
Juvenile polyposis syndrome	KEGG: H01023, OMIM: 600993
Endometriosis	INFBASE25228630
Myhre syndrome	OMIM: 600993
Pancreatic cancer	KEGG: H00019, OMIM: 600993
Polyposis	OMIM: 600993

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
25228630	Endometrio sis			27 (15 women wi th endometriosi s, 15 women wit hout endometrio sis)		Nodal Cripto SMAD3 SMAD4	Show abstract