• Gene id: 4087

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 (47931187: 47808956)     Exons: 18     NC_000018.10
• 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 mo
• 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: 52306
  • 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: (10..17-)
    (/note="MH1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00438-)
    (274..46-)
    (/note="MH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00439"-)
  • Interpro: IPR013790  IPR003619  IPR013019  IPR017855  IPR001132   IPR008984  IPR036578  
  • Prosite: PS51075 PS51076
  • PDB: 1DEV 1KHX 1U7V 2LB3 5XOD 5ZOJ
  • PDBsum: 1DEV 1KHX 1U7V 2LB3 5XOD 5ZOJ
  • DIP: 29716
  • STRING: ENSP00000262160
• Other Databases: GeneCards:  SMAD2  Malacards:  SMAD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	molecular function
GO:0048156	tau protein binding	ISS	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0019902	phosphatase 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:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007182	common-partner SMAD protein phosphorylation	IDA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0016579	protein deubiquitination	TAS	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0035019	somatic stem cell population maintenance	TAS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	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:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	TAS	biological process
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: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: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:0060395	SMAD protein signal transduction	IEA	biological process
GO:0060039	pericardium development	IEA	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IEA	biological process
GO:0048156	tau protein binding	IEA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045165	cell fate commitment	IEA	biological process
GO:0030073	insulin secretion	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0009749	response to glucose	IEA	biological process
GO:0007492	endoderm development	IEA	biological process
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0001657	ureteric bud development	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0042060	wound healing	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0030325	adrenal gland development	IEA	biological process
GO:0023019	signal transduction involved in regulation of gene expression	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0062009	secondary palate development	IEA	biological process
GO:0051098	regulation of binding	IEA	biological process
GO:0048617	embryonic foregut morphogenesis	IEA	biological process
GO:0048589	developmental growth	IEA	biological process
GO:0048340	paraxial mesoderm morphogenesis	IEA	biological process
GO:0046332	SMAD binding	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0035265	organ growth	IEA	biological process
GO:0031016	pancreas development	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0009880	embryonic pattern specification	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0007507	heart development	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0007369	gastrulation	IEA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001707	mesoderm formation	IEA	biological process
GO:0001706	endoderm formation	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	contributes to
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0034713	type I transforming growth factor beta receptor binding	IPI	molecular function
GO:0070410	co-SMAD binding	IPI	molecular function
GO:0070410	co-SMAD binding	IPI	molecular function
GO:0003677	DNA binding	IDA	contributes to
GO:0000987	cis-regulatory region sequence-specific DNA binding	IC	molecular function
GO:0005160	transforming growth factor 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:0070411	I-SMAD binding	IPI	molecular function
GO:0070412	R-SMAD binding	IPI	molecular function
GO:0007183	SMAD protein complex assembly	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0070723	response to cholesterol	IDA	biological process
GO:0007352	zygotic specification of dorsal/ventral axis	IMP	biological process
GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0030513	positive regulation of BMP signaling pathway	IMP	biological process
GO:0038092	nodal signaling pathway	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0000790	nuclear chromatin	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:0005667	transcription regulator complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0032444	activin responsive factor complex	IDA	cellular component
GO:0071144	heteromeric SMAD protein complex	IDA	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0007369	gastrulation	TAS	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	ISS	biological process
GO:0031053	primary miRNA processing	TAS	biological process
GO:0032924	activin receptor signaling pathway	IMP	biological process
GO:0062009	secondary palate development	ISS	biological process
GO:1900224	positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry	IMP	biological process
GO:0070878	primary miRNA binding	IPI	molecular function
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0097718	disordered domain specific binding	IPI	molecular function
GO:0032991	protein-containing complex	IMP	cellular component
GO:0071141	SMAD protein complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0009952	anterior/posterior pattern specification	ISS	biological process
GO:0003690	double-stranded DNA binding	ISS	molecular function
GO:0048340	paraxial mesoderm morphogenesis	ISS	biological process
GO:0033613	activating transcription factor 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:0001707	mesoderm formation	ISS	biological process
GO:0045165	cell fate commitment	ISS	biological process
GO:0051098	regulation of binding	ISS	biological process
GO:0046332	SMAD binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0035556	intracellular signal transduction	ISS	biological process
GO:0008134	transcription factor 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

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04144	Endocytosis
hsa05166	Human T-cell leukemia virus 1 infection
hsa05205	Proteoglycans in cancer
hsa04390	Hippo signaling pathway
hsa05225	Hepatocellular carcinoma
hsa04371	Apelin signaling pathway
hsa05226	Gastric cancer
hsa04218	Cellular senescence
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa04110	Cell cycle
hsa04926	Relaxin signaling pathway
hsa04659	Th17 cell differentiation
hsa04350	TGF-beta signaling pathway
hsa05142	Chagas disease
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa05210	Colorectal cancer
hsa05212	Pancreatic cancer
hsa05321	Inflammatory bowel disease

Diseases

Associated diseases	References
Endometriosis	INFBASE: 26708185
Proliferation of male germ cells	MIK: 28465413
Sertoli cell only syndrome (SCOS)	MIK: 18648910
Colorectal cancer	KEGG:H00020
Colorectal cancer	KEGG:H00020
Endometrial cancer	PMID:12883738
pancreatic cancer	PMID:10505717
Ovarian cancer	PMID:10969799
Breast carcinoma	PMID:11809701
pancreatic ductal adenocarcinoma	PMID:26908446
Lynch syndrome	PMID:10819637
ovarian carcinoma	PMID:14985451
cervical cancer	PMID:12894231
renal cell carcinoma	PMID:11332076
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)