Manteia

ENSG00000175387

Homo sapiens

Features

Gene ID:	ENSG00000175387

Biological name :	SMAD2

Synonyms :	Q15796 / SMAD2 / SMAD family member 2

Possible biological names infered from orthology :

Species:	Homo sapiens

Chr. number:	18
Strand:	-1
Band:	q21.1
Gene start:	47808957
Gene end:	47931146

Corresponding Affymetrix probe sets:	203075_at (Human Genome U133 Plus 2.0 Array) 203076_s_at (Human Genome U133 Plus 2.0 Array) 203077_s_at (Human Genome U133 Plus 2.0 Array) 226563_at (Human Genome U133 Plus 2.0 Array) 235598_at (Human Genome U133 Plus 2.0 Array) 239271_at (Human Genome U133 Plus 2.0 Array)

Cross references:	Ensembl peptide - ENSP00000468202 Ensembl peptide - ENSP00000467075 Ensembl peptide - ENSP00000468732 Ensembl peptide - ENSP00000262160 Ensembl peptide - ENSP00000349282 Ensembl peptide - ENSP00000384449 Ensembl peptide - ENSP00000465355 Ensembl peptide - ENSP00000465971 Ensembl peptide - ENSP00000466193 Ensembl peptide - ENSP00000466254 NCBI entrez gene - 4087 See in Manteia. OMIM - 601366 RefSeq - XM_017025750 RefSeq - NM_005901 RefSeq - XM_005258259 RefSeq - XM_006722451 RefSeq - XM_011525984 RefSeq - XM_011525985 RefSeq - XM_017025745 RefSeq - XM_017025746 RefSeq - XM_017025747 RefSeq - XM_017025748 RefSeq - XM_017025749 RefSeq - NM_001003652 RefSeq - NM_001135937 RefSeq Peptide - NP_001003652 RefSeq Peptide - NP_001129409 RefSeq Peptide - NP_005892 swissprot - K7ESI8 swissprot - Q15796 swissprot - K7EJX0 swissprot - B7Z5N5 swissprot - Q53XR6 swissprot - K7EL92 swissprot - K7ERC7 Ensembl - ENSG00000175387

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
smad2	ENSDARG00000006389	Danio rerio
	ENSGALG00000014184	Gallus gallus
SMAD2Z	ENSGALG00000036001	Gallus gallus
Smad2	ENSMUSG00000024563	Mus musculus

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
SMAD3 / P84022 / SMAD family member 3	ENSG00000166949	84
SMAD5 / Q99717 / SMAD family member 5	ENSG00000113658	61
SMAD1 / Q15797 / SMAD family member 1	ENSG00000170365	61
SMAD9 / O15198 / SMAD family member 9	ENSG00000120693	60
SMAD4 / Q13485 / SMAD family member 4	ENSG00000141646	40
SMAD6 / O43541 / SMAD family member 6	ENSG00000137834	25
SMAD7 / O15105 / SMAD family member 7	ENSG00000101665	24

Protein motifs (from Interpro)

Interpro ID	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

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0000122	negative regulation of transcription by RNA polymerase II	TAS
biological_process	GO:0001657	ureteric bud development	IEA
biological_process	GO:0001701	in utero embryonic development	IEA
biological_process	GO:0001706	endoderm formation	IEA
biological_process	GO:0001707	mesoderm formation	ISS
biological_process	GO:0006351	transcription, DNA-templated	IEA
biological_process	GO:0006355	regulation of transcription, DNA-templated	IEA
biological_process	GO:0006366	transcription by RNA polymerase II	IEA
biological_process	GO:0006468	protein phosphorylation	IEA
biological_process	GO:0007179	transforming growth factor beta receptor signaling pathway	TAS
biological_process	GO:0007182	common-partner SMAD protein phosphorylation	IDA
biological_process	GO:0007183	SMAD protein complex assembly	IDA
biological_process	GO:0007352	zygotic specification of dorsal/ventral axis	IMP
biological_process	GO:0007369	gastrulation	TAS
biological_process	GO:0007389	pattern specification process	IEA
biological_process	GO:0007492	endoderm development	IEA
biological_process	GO:0007507	heart development	IEA
biological_process	GO:0008285	negative regulation of cell proliferation	IEA
biological_process	GO:0009749	response to glucose	IEA
biological_process	GO:0009791	post-embryonic development	IEA
biological_process	GO:0009880	embryonic pattern specification	IEA
biological_process	GO:0009952	anterior/posterior pattern specification	ISS
biological_process	GO:0010628	positive regulation of gene expression	IEA
biological_process	GO:0010629	negative regulation of gene expression	IEA
biological_process	GO:0010718	positive regulation of epithelial to mesenchymal transition	ISS
biological_process	GO:0016579	protein deubiquitination	TAS
biological_process	GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	IMP
biological_process	GO:0023019	signal transduction involved 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 transforming growth factor beta receptor signaling pathway	TAS
biological_process	GO:0030513	positive regulation of BMP signaling pathway	IMP
biological_process	GO:0031016	pancreas development	IEA
biological_process	GO:0031053	primary miRNA processing	TAS
biological_process	GO:0032924	activin receptor signaling pathway	IMP
biological_process	GO:0035019	somatic stem cell population maintenance	TAS
biological_process	GO:0035265	organ growth	IEA
biological_process	GO:0035556	intracellular signal transduction	ISS
biological_process	GO:0038092	nodal signaling pathway	IMP
biological_process	GO:0042060	wound healing	IEA
biological_process	GO:0045165	cell fate commitment	ISS
biological_process	GO:0045892	negative regulation of transcription, DNA-templated	IMP
biological_process	GO:0045893	positive regulation of transcription, DNA-templated	IMP
biological_process	GO:0045944	positive regulation of transcription by RNA polymerase II	TAS
biological_process	GO:0048340	paraxial mesoderm morphogenesis	ISS
biological_process	GO:0048589	developmental growth	IEA
biological_process	GO:0048617	embryonic foregut morphogenesis	IEA
biological_process	GO:0048701	embryonic cranial skeleton morphogenesis	IEA
biological_process	GO:0051098	regulation of binding	ISS
biological_process	GO:0060021	roof of mouth development	ISS
biological_process	GO:0060039	pericardium development	IEA
biological_process	GO:0060395	SMAD protein signal transduction	IEA
biological_process	GO:0070723	response to cholesterol	IDA
biological_process	GO:1900224	positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry	IMP
cellular_component	GO:0000790	nuclear chromatin	IDA
cellular_component	GO:0005622	intracellular	IEA
cellular_component	GO:0005634	nucleus	IEA
cellular_component	GO:0005654	nucleoplasm	TAS
cellular_component	GO:0005667	transcription factor complex	IDA
cellular_component	GO:0005737	cytoplasm	IDA
cellular_component	GO:0005829	cytosol	TAS
cellular_component	GO:0016020	membrane	IEA
cellular_component	GO:0016021	integral component of membrane	IEA
cellular_component	GO:0032444	activin responsive factor complex	IDA
cellular_component	GO:0032991	protein-containing complex	IMP
cellular_component	GO:0071141	SMAD protein complex	IDA
cellular_component	GO:0071144	heteromeric SMAD protein complex	IDA
molecular_function	GO:0000978	RNA polymerase II proximal promoter sequence-specific DNA binding	IDA
molecular_function	GO:0000981	RNA polymerase II transcription factor activity, sequence-specific DNA binding	NAS
molecular_function	GO:0001077	transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding	IDA
molecular_function	GO:0003677	DNA binding	IDA
molecular_function	GO:0003682	chromatin binding	IEA
molecular_function	GO:0003690	double-stranded DNA binding	ISS
molecular_function	GO:0003700	DNA-binding transcription factor activity	IDA
molecular_function	GO:0005160	transforming growth factor beta receptor binding	IPI
molecular_function	GO:0005515	protein binding	IPI
molecular_function	GO:0008134	transcription factor binding	IPI
molecular_function	GO:0019902	phosphatase binding	IPI
molecular_function	GO:0030618	transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	IDA
molecular_function	GO:0031625	ubiquitin protein ligase binding	IPI
molecular_function	GO:0033613	activating transcription factor binding	IPI
molecular_function	GO:0034713	type I transforming growth factor beta receptor binding	IPI
molecular_function	GO:0035326	enhancer binding	IC
molecular_function	GO:0042803	protein homodimerization activity	IEA
molecular_function	GO:0046332	SMAD binding	IPI
molecular_function	GO:0046872	metal ion binding	IEA
molecular_function	GO:0046982	protein heterodimerization activity	IEA
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:0070878	primary miRNA binding	IPI
molecular_function	GO:0097718	disordered domain specific binding	IPI

Pathways (from Reactome)

Pathway description

Signaling by NODAL

Signaling by Activin

Downregulation of TGF-beta receptor signaling

TGF-beta receptor signaling activates SMADs

Downregulation of SMAD2/3:SMAD4 transcriptional activity

SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription

SMAD2/3 Phosphorylation Motif Mutants in Cancer

SMAD4 MH2 Domain Mutants in Cancer

SMAD2/3 MH2 Domain Mutants in Cancer

TGFBR1 KD Mutants in Cancer

Transcriptional regulation of pluripotent stem cells

Ub-specific processing proteases

Phenotype (from MGI, Zfin or HPO)

Phenotype

Definition

Genetic BG

No match

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSG00000105329	TGFB1 / P01137 / transforming growth factor beta 1	/ reaction
ENSG00000123612	ACVR1C / Q8NER5 / activin A receptor type 1C	/ reaction
ENSG00000175387	SMAD2 / Q15796 / SMAD family member 2	/ complex / reaction
ENSG00000108854	Q9HAU4 / SMURF2 / SMAD specific E3 ubiquitin protein ligase 2	/ complex / reaction
ENSG00000133740	E2F5 / Q15329 / E2F transcription factor 5	/ complex / reaction
ENSG00000049759	NEDD4L / Q96PU5 / neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	/ complex / reaction
ENSG00000157077	O95405 / ZFYVE9 / zinc finger FYVE-type containing 9	/ reaction
ENSG00000163513	P37173 / TGFBR2 / transforming growth factor beta receptor 2	/ reaction
ENSG00000133895	MEN1 / O00255 / menin 1	/ complex / reaction
ENSG00000166949	SMAD3 / P84022 / SMAD family member 3	/ complex / reaction
ENSG00000141646	SMAD4 / Q13485 / SMAD family member 4	/ complex / reaction
ENSG00000185591	SP1 / P08047 / Sp1 transcription factor	/ complex / reaction
ENSG00000100614	PPM1A / P35813 / protein phosphatase, Mg2+/Mn2+ dependent 1A	/ complex / reaction
ENSG00000197323	Q9UPN9 / TRIM33 / tripartite motif containing 33	/ complex / reaction
ENSG00000080839	RBL1 / P28749 / RB transcriptional corepressor like 1	/ complex / reaction
ENSG00000018408	WWTR1 / Q9GZV5 / WW domain containing transcription regulator 1	/ complex / reaction
ENSG00000106799	P36897 / TGFBR1 / transforming growth factor beta receptor 1	/ reaction
ENSG00000205250	E2F4 / Q16254 / E2F transcription factor 4	/ complex / reaction
ENSG00000198176	TFDP1 / Q14186 / transcription factor Dp-1	/ complex / reaction
ENSG00000114126	TFDP2 / Q14188 / transcription factor Dp-2	/ complex / reaction
ENSG00000129315	CCNT1 / O60563 / cyclin T1	/ reaction
ENSG00000135503	ACVR1B / P36896 / activin A receptor type 1B	/ reaction
ENSG00000082258	CCNT2 / O60583 / cyclin T2	/ reaction
ENSG00000136603	SKIL / P12757 / SKI like proto-oncogene	/ complex / reaction
ENSG00000124225	PMEPA1 / Q969W9 / prostate transmembrane protein, androgen induced 1	/ complex / reaction
ENSG00000141027	NCOR1 / O75376 / nuclear receptor corepressor 1	/ complex / reaction
ENSG00000108389	MTMR4 / Q9NYA4 / myotubularin related protein 4	/ complex / reaction
ENSG00000177426	TGIF1 / Q15583 / TGFB induced factor homeobox 1	/ complex / reaction
ENSG00000112237	CCNC / P24863 / cyclin C	/ reaction
ENSG00000118689	FOXO3 / O43524 / forkhead box O3	/ complex / reaction
ENSG00000196498	NCOR2 / Q9Y618 / nuclear receptor corepressor 2	/ complex / reaction
ENSG00000143799	PARP1 / P09874 / poly(ADP-ribose) polymerase 1	/ complex / reaction
ENSG00000136807	CDK9 / P50750 / cyclin dependent kinase 9	/ reaction
ENSG00000118707	TGIF2 / Q9GZN2 / TGFB induced factor homeobox 2	/ complex / reaction
ENSG00000116478	HDAC1 / Q13547 / histone deacetylase 1	/ complex / reaction
ENSG00000160973	FOXH1 / O75593 / forkhead box H1	/ complex / reaction
ENSG00000090061	CCNK / O75909 / cyclin K	/ reaction
ENSG00000157933	SKI / P12755 / SKI proto-oncogene	/ complex / reaction
ENSG00000132964	CDK8 / P49336 / cyclin dependent kinase 8	/ reaction

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		© Olivier Tassy / Olivier Pourquie 2007-2025 contact: otassy@igbmc.fr