ENSMUSG00000036867


Mus musculus

Features
Gene ID: ENSMUSG00000036867
  
Biological name :Smad6
  
Synonyms : Mothers against decapentaplegic homolog 6 / O35182 / Smad6
  
Possible biological names infered from orthology : O43541 / SMAD family member 6
  
Species: Mus musculus
  
Chr. number: 9
Strand: -1
Band: C
Gene start: 63953076
Gene end: 64022059
  
Corresponding Affymetrix probe sets: 10594418 (MoGene1.0st)   1422771_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000036285
Ensembl peptide - ENSMUSP00000137442
NCBI entrez gene - 17130     See in Manteia.
MGI - MGI:1336883
RefSeq - NM_008542
RefSeq - XM_006510822
RefSeq Peptide - NP_032568
swissprot - J3QPR3
swissprot - O35182
Ensembl - ENSMUSG00000036867
  

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


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 smad6bENSDARG00000031763Danio rerio
 SMAD6ENSGALG00000025898Gallus gallus
 SMAD6ENSG00000137834Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Smad7 / O35253 / SMAD family member 7 / O15105*ENSMUSG0000002588043
Smad4 / P97471 / Mothers against decapentaplegic homolog 4 / Q13485* / SMAD family member 4*ENSMUSG0000002451525
Smad5 / P97454 / Mothers against decapentaplegic homolog 5 / Q99717* / SMAD family member 5*ENSMUSG0000002154024
Smad2 / Q62432 / Mothers against decapentaplegic homolog 2 / Q15796* / SMAD family member 2*ENSMUSG0000002456324
Smad9 / Q9JIW5 / Mothers against decapentaplegic homolog 9 / O15198* / SMAD family member 9*ENSMUSG0000002779624
Smad1 / P70340 / SMAD family member 1 / Q15797*ENSMUSG0000003168123
Smad3 / Q8BUN5 / Mothers against decapentaplegic homolog 3 / P84022* / SMAD family member 3*ENSMUSG0000003240222


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)
TypeGO IDTermEv.Code
 biological_processGO:0001657 ureteric bud development IEP
 biological_processGO:0003148 outflow tract septum morphogenesis IMP
 biological_processGO:0003170 heart valve development IMP
 biological_processGO:0003183 mitral valve morphogenesis IMP
 biological_processGO:0003184 pulmonary valve morphogenesis IMP
 biological_processGO:0003281 ventricular septum development IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006955 immune response IEA
 biological_processGO:0007179 transforming growth factor beta receptor signaling pathway IEA
 biological_processGO:0007352 zygotic specification of dorsal/ventral axis IEA
 biological_processGO:0008285 negative regulation of cell proliferation IEA
 biological_processGO:0010991 negative regulation of SMAD protein complex assembly IEA
 biological_processGO:0030279 negative regulation of ossification IMP
 biological_processGO:0030509 BMP signaling pathway IEA
 biological_processGO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway IEA
 biological_processGO:0030514 negative regulation of BMP signaling pathway IEA
 biological_processGO:0031589 cell-substrate adhesion IEA
 biological_processGO:0034616 response to laminar fluid shear stress IEA
 biological_processGO:0035904 aorta development IMP
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0043627 response to estrogen IEA
 biological_processGO:0045444 fat cell differentiation IEA
 biological_processGO:0045907 positive regulation of vasoconstriction TAS
 biological_processGO:0060394 negative regulation of pathway-restricted SMAD protein phosphorylation IEA
 biological_processGO:0060948 cardiac vascular smooth muscle cell development TAS
 biological_processGO:0060976 coronary vasculature development IMP
 biological_processGO:0060977 coronary vasculature morphogenesis TAS
 biological_processGO:0097756 negative regulation of blood vessel diameter TAS
 biological_processGO:1902895 positive regulation of pri-miRNA transcription by RNA polymerase II IMP
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005667 transcription factor complex IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0016604 nuclear body IEA
 cellular_componentGO:0032991 protein-containing complex IEA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030617 transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IEA
 molecular_functionGO:0034713 type I transforming growth factor beta receptor binding IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0070410 co-SMAD binding IEA
 molecular_functionGO:0070411 I-SMAD binding IEA
 molecular_functionGO:0070412 R-SMAD binding IEA
 molecular_functionGO:0070698 type I activin receptor binding IEA


Pathways (from Reactome)
Pathway description
Signaling by BMP


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000249 abnormal blood vessel physiology "anomalous function of any of the tubes that convey blood: arteries, arterioles, capallaries, venules, veins" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Smarcad1tm1Gos/Smarcad1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Smarcad1tm1Gos/Smarcad1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0000272 abnormal aorta morphology "structural anomaly of the main trunk of the systemic arteries" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Smarcad1tm1Gos/Smarcad1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0000273 overriding aorta "congenitally mispositioned aorta where the origin straddles the ventral septum and so receives ejected blood from the right ventricle as well as the left." [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cml, J:67826]
Show

Allelic Composition: Ccdc39b2b1304Clo/Ccdc39b2b1304Clo
Genetic Background: C57BL/6J-Ccdc39b2b1304Clo

 MP:0000284 double outlet right ventricle "both the aorta and the pulmonary trunk originate from the right ventricle, usually in conjunction with a ventricular septal defect" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:67826]
Show

Allelic Composition: Ccdc39b2b1304Clo/Ccdc39b2b1304Clo
Genetic Background: C57BL/6J-Ccdc39b2b1304Clo

 MP:0000285 abnormal cardiac valve morphology "malformation of the membranous folds of the heart that prevent reflux of fluid" [J:18048]
Show

Allelic Composition: Smarcad1tm1Gos/Smarcad1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001544 abnormal cardiovascular system physiology "anomalous function of the blood, blood vessels, and/or the heart" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Smarcad1tm1Gos/Smarcad1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001633 poor circulation "insufficient movement of blood throughout the body" [MGI:cls, J:45302]
Show

Allelic Composition: Smarcad1tm1Gos/Smarcad1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002842 increased blood pressure "increased tension of the blood within the systemic arteries" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Smarcad1tm1Gos/Smarcad1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0003958 heart valve hyperplasia "increased number of cells of the heart valves, leading to increased size or bulk" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:60214]
Show

Allelic Composition: Smarcad1tm1Gos/Smarcad1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0003974 abnormal endocardium morphology "malformation of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the heart" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Smarcad1tm1Gos/Smarcad1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0005048 thrombosis "formation within a tissue or the vascular lumen of a thrombus, an aggregation of coagulated blood containing platelets, fibrin, and entrapped cellular elements " [Pathology:ISBN 0-397-51047-0, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Smarcad1tm1Gos/Smarcad1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0005591 decreased vasodilation "less than the expected or normal widening of the lumen of the blood vessels" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Smarcad1tm1Gos/Smarcad1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0006123 tricuspid valve atresia "congenital closure of the tricuspid valve" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ccdc39b2b1304Clo/Ccdc39b2b1304Clo
Genetic Background: C57BL/6J-Ccdc39b2b1304Clo

 MP:0008825 abnormal cardiac epithelial to mesenchymal transition "anomaly in the process by which endocardial cells of the atrioventricular canal lose their epithelial characteristics, delaminante from the endocardial sheet, become migratory and invade the cardiac jelly, and develop mesenchymal characteristics eventaully forming the endocardial cushions reqired for septum and atrioventricular valve formation" [PMID:17303760]
Show

Allelic Composition: Smarcad1tm1Gos/Smarcad1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0010418 perimembraneous ventricular septal defect "abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated with pouches or aneurysms of the septal leaflet of the tricuspid valve, which may partially or completely close the defect; an LV-to-RA shunt may also be associated with this defect" [http://emedicine.medscape.com]
Show

Allelic Composition: Ccdc39b2b1304Clo/Ccdc39b2b1304Clo
Genetic Background: C57BL/6J-Ccdc39b2b1304Clo

 MP:0010420 muscular ventricular septal defect "abnormal communications between the two lower chambers of the heart, involving the muscular septum and often occurring as multiple communications, and includes central muscular or midmuscular, apical, or marginal communications when the defect is along the RV-septal junction; any single defect observed from the LV aspect may have several openings on the RV aspect" [http://emedicine.medscape.com]
Show

Allelic Composition: Ccdc39b2b1304Clo/Ccdc39b2b1304Clo
Genetic Background: C57BL/6J-Ccdc39b2b1304Clo

 MP:0010454 abnormal truncus arteriosis septation "anomaly in the process of dividing the common arterial trunk arising out of both heart ventricles to divide into the aorta and pulmonary artery during development" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Smarcad1tm1Gos/Smarcad1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0010551 abnormal coronary vessel morphology "any structural anomaly of any of the arteries or veins that supply blood to the heart or return blood from the heart muscles to the circulation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Smarcad1tm1Gos/Smarcad1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0010600 enlarged pulmonary valve "an increase in the total area occupied by the pulmonary valve" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Smarcad1tm1Gos/Smarcad1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0010618 enlarged mitral valve "an increase in the total area occupied by the mitral valve" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Smarcad1tm1Gos/Smarcad1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0011110 partial preweaning lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Smarcad1tm1Gos/Smarcad1+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0011665 d-loop transposition of the great arteries "complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and the great arteries are parallel rather than crossing" [PMID:17159076]
Show

Allelic Composition: Ccdc39b2b1304Clo/Ccdc39b2b1304Clo
Genetic Background: C57BL/6J-Ccdc39b2b1304Clo

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000027358 Bmp2 / P21274 / Bone morphotic protein 2 / P12643* / bone morphogenetic protein 2*  / complex / reaction
 ENSMUSG00000061393 Acvr2b / P27040 / Activin receptor type-2B / Q13705* / activin A receptor type 2B*  / complex / reaction
 ENSMUSG00000027796 Smad9 / Q9JIW5 / Mothers against decapentaplegic homolog 9 / O15198* / SMAD family member 9*  / complex / reaction
 ENSMUSG00000018363 A2A5Z6 / Smurf2 / E3 ubiquitin-protein ligase SMURF2 / Q9HAU4* / SMAD specific E3 ubiquitin protein ligase 2*  / complex
 ENSMUSG00000038780 Q9CUN6 / Smurf1 / E3 ubiquitin-protein ligase SMURF1 / Q9HCE7* / SMAD specific E3 ubiquitin protein ligase 1*  / complex
 ENSMUSG00000052430 Bmpr1b / P36898 / Mus musculus bone morphotic protein receptor, type 1B (Bmpr1b), transcript variant 6, mRNA. / O00238* / bone morphogenetic protein receptor type 1B*  / complex / reaction
 ENSMUSG00000031681 Smad1 / P70340 / SMAD family member 1 / Q15797*  / complex / reaction
 ENSMUSG00000052155 Acvr2a / P27038 / Activin receptor type-2A / P27037* / activin A receptor type 2A*  / complex / reaction
 ENSMUSG00000021540 Smad5 / P97454 / Mothers against decapentaplegic homolog 5 / Q99717* / SMAD family member 5*  / complex / reaction
 ENSMUSG00000021796 Bmpr1a / P36895 / Bone morphotic protein receptor type-1A / P36894* / bone morphogenetic protein receptor type 1A*  / complex / reaction
 ENSMUSG00000067336 Bmpr2 / O35607 / Bone morphotic protein receptor type-2 / Q13873* / bone morphogenetic protein receptor type 2*  / complex / reaction






 

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