• Gene id: 4091

Gene Summary

• Gene Symbol: SMAD6   Gene   UCSC   Ensembl
• Aliases: AOVD2, HsT17432, MADH6, MADH7
• Gene name: SMAD family member 6
• Alternate names: mothers against decapentaplegic homolog 6, MAD homolog 6, SMAD, mothers against DPP homolog 6, mothers against decapentaplegic, drosophila, homolog of, 6,
• Gene location: 15q22.31 (66702109: 66782848)     Exons: 3     NC_000015.10
• Gene summary(Entrez): The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple
• OMIM: 602931

Protein Summary

• Protein general information: O43541  
  • Name: Mothers against decapentaplegic homolog 6 (MAD homolog 6) (Mothers against DPP homolog 6) (SMAD family member 6) (SMAD 6) (Smad6) (hSMAD6)
  • Length: 496  
  • Mass: 53497
  • Tissue specificity: Ubiquitous in various organs, with higher levels in lung. Isoform B is up-regulated in diseased heart tissue.
• Sequence:

  MFRSKRSGLVRRLWRSRVVPDREEGGSGGGGGGDEDGSLGSRAEPAPRAREGGGCGRSEVRPVAPRRPRDAVGQR
  GAQGAGRRRRAGGPPRPMSEPGAGAGSSLLDVAEPGGPGWLPESDCETVTCCLFSERDAAGAPRDASDPLAGAAL
  EPAGGGRSREARSRLLLLEQELKTVTYSLLKRLKERSLDTLLEAVESRGGVPGGCVLVPRADLRLGGQPAPPQLL
  LGRLFRWPDLQHAVELKPLCGCHSFAAAADGPTVCCNPYHFSRLCGPESPPPPYSRLSPRDEYKPLDLSDSTLSY
  TETEATNSLITAPGEFSDASMSPDATKPSHWCSVAYWEHRTRVGRLYAVYDQAVSIFYDLPQGSGFCLGQLNLEQ
  RSESVRRTRSKIGFGILLSKEPDGVWAYNRGEHPIFVNSPTLDAPGGRALVVRKVPPGYSIKVFDFERSGLQHAP
  EPDAADGPYDPNSVRISFAKGWGPCYSRQFITSCPCWLEILLNNPR

• Structural information:
  • Protein Domains: (148..27-)
    (/note="MH1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00438-)
    (331..49-)
    (/note="MH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00439"-)
  • Interpro: IPR013790  IPR003619  IPR013019  IPR017855  IPR001132   IPR008984  IPR036578  
  • Prosite: PS51075 PS51076
  • DIP: 36708
  • STRING: ENSP00000288840
• Other Databases: GeneCards:  SMAD6  Malacards:  SMAD6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032496	response to lipopolysaccharide	IDA	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
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	ISA	molecular function
GO:0045444	fat cell differentiation	IDA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0031589	cell-substrate adhesion	IMP	biological process
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:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0030509	BMP signaling pathway	TAS	biological process
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:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043627	response to estrogen	IEA	biological process
GO:0060976	coronary vasculature development	IEA	biological process
GO:0030279	negative regulation of ossification	IEA	biological process
GO:0003183	mitral valve morphogenesis	IEA	biological process
GO:0003148	outflow tract septum morphogenesis	IEA	biological process
GO:0001657	ureteric bud development	IEA	biological process
GO:1902895	positive regulation of pri-miRNA transcription by RNA polymerase II	IEA	biological process
GO:0035904	aorta development	IEA	biological process
GO:0003281	ventricular septum development	IEA	biological process
GO:0003184	pulmonary valve morphogenesis	IEA	biological process
GO:0003170	heart valve development	IEA	biological process
GO:0045668	negative regulation of osteoblast differentiation	IMP	biological process
GO:0034713	type I transforming growth factor beta receptor binding	IDA	molecular function
GO:0070698	type I activin receptor binding	IDA	molecular function
GO:0140416	DNA-binding transcription factor inhibitor activity	IDA	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0070410	co-SMAD binding	IPI	molecular function
GO:0140416	DNA-binding transcription factor inhibitor activity	TAS	molecular function
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:0060394	negative regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010991	negative regulation of SMAD protein complex assembly	IDA	biological process
GO:0030514	negative regulation of BMP signaling pathway	IDA	biological process
GO:0007352	zygotic specification of dorsal/ventral axis	IMP	biological process
GO:0008285	negative regulation of cell population proliferation	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0060394	negative regulation of pathway-restricted SMAD protein phosphorylation	IMP	biological process
GO:0005737	cytoplasm	TAS	cellular component
GO:0006955	immune response	IMP	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0034616	response to laminar fluid shear stress	IEP	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0003183	mitral valve morphogenesis	ISS	biological process
GO:0003148	outflow tract septum morphogenesis	ISS	biological process
GO:0030279	negative regulation of ossification	ISS	biological process
GO:0030514	negative regulation of BMP signaling pathway	IMP	biological process
GO:0003180	aortic valve morphogenesis	IMP	biological process
GO:0003184	pulmonary valve morphogenesis	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04350	TGF-beta signaling pathway

Diseases

Associated diseases	References
Bicuspid aortic valve	KEGG:H00554
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881