ENSG00000137834


Homo sapiens

Features
Gene ID: ENSG00000137834
  
Biological name :SMAD6
  
Synonyms : O43541 / SMAD6 / SMAD family member 6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: 1
Band: q22.31
Gene start: 66702228
Gene end: 66782848
  
Corresponding Affymetrix probe sets: 207069_s_at (Human Genome U133 Plus 2.0 Array)   209886_s_at (Human Genome U133 Plus 2.0 Array)   209887_at (Human Genome U133 Plus 2.0 Array)   213565_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000452955
Ensembl peptide - ENSP00000453446
Ensembl peptide - ENSP00000288840
Ensembl peptide - ENSP00000452694
NCBI entrez gene - 4091     See in Manteia.
OMIM - 602931
RefSeq - NM_005585
RefSeq Peptide - NP_005576
swissprot - H0YK80
swissprot - H0YM33
swissprot - O43541
Ensembl - ENSG00000137834
  
Related genetic diseases (OMIM): 614823 - Aortic valve disease 2, 614823
  617439 - {Craniosynostosis 7, susceptibility to}, 617439

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 nameID Species
 smad6bENSDARG00000031763Danio rerio
 SMAD6ENSGALG00000025898Gallus gallus
 Smad6ENSMUSG00000036867Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SMAD7 / O15105 / SMAD family member 7ENSG0000010166543
SMAD9 / O15198 / SMAD family member 9ENSG0000012069325
SMAD4 / Q13485 / SMAD family member 4ENSG0000014164625
SMAD2 / Q15796 / SMAD family member 2ENSG0000017538724
SMAD5 / Q99717 / SMAD family member 5ENSG0000011365824
SMAD1 / Q15797 / SMAD family member 1ENSG0000017036524
SMAD3 / P84022 / SMAD family member 3ENSG0000016694922


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 IEA
 biological_processGO:0003148 outflow tract septum morphogenesis ISS
 biological_processGO:0003170 heart valve development IEA
 biological_processGO:0003183 mitral valve morphogenesis ISS
 biological_processGO:0003184 pulmonary valve morphogenesis ISS
 biological_processGO:0003281 ventricular septum development IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006955 immune response IMP
 biological_processGO:0007179 transforming growth factor beta receptor signaling pathway IEA
 biological_processGO:0007352 zygotic specification of dorsal/ventral axis IMP
 biological_processGO:0008285 negative regulation of cell proliferation IMP
 biological_processGO:0010991 negative regulation of SMAD protein complex assembly IDA
 biological_processGO:0030279 negative regulation of ossification ISS
 biological_processGO:0030509 BMP signaling pathway TAS
 biological_processGO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway IMP
 biological_processGO:0030514 negative regulation of BMP signaling pathway IDA
 biological_processGO:0031589 cell-substrate adhesion IMP
 biological_processGO:0034616 response to laminar fluid shear stress IEP
 biological_processGO:0035904 aorta development IEA
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0043627 response to estrogen IEA
 biological_processGO:0045444 fat cell differentiation IDA
 biological_processGO:0060394 negative regulation of pathway-restricted SMAD protein phosphorylation IMP
 biological_processGO:0060976 coronary vasculature development IEA
 biological_processGO:1902895 positive regulation of pri-miRNA transcription by RNA polymerase II IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005667 transcription factor complex IEA
 cellular_componentGO:0005737 cytoplasm TAS
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016604 nuclear body IDA
 cellular_componentGO:0032991 protein-containing complex IDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IDA
 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 IMP
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0034713 type I transforming growth factor beta receptor binding IDA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0044212 transcription regulatory region DNA binding IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0070410 co-SMAD binding IPI
 molecular_functionGO:0070411 I-SMAD binding IPI
 molecular_functionGO:0070412 R-SMAD binding IPI
 molecular_functionGO:0070698 type I activin receptor binding IDA


Pathways (from Reactome)
Pathway description
Signaling by BMP
RUNX2 regulates bone development


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0001647 Bicuspid aortic valve "The presence of a bicuspid `aortic valve` (FMA:7236)." [HPO:probinson]
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 HP:0001650 Aortic stenosis "The presence of a stenosis (narrowing) of the aortic valve." [HPO:curators]
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 HP:0001659 Aortic insufficiency "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [HPO:curators]
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 HP:0001680 Coarctation of aorta "Coarctation of the aorta is a narrowing or constriction of the aorta just distal to the origin of the left subclavian artery." [HPO:curators]
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 HP:0004380 Aortic valve calcification 
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 HP:0004383 Hypoplastic left heart 
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 HP:0004933 ascending aortic dissection 
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 HP:0004962 Thoracic aorta calcification 
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 HP:0004963 Calcifications of the aorta 
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 HP:0005113 Dilatation of the aortic arch 
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 HP:0011103 Abnormality of the left ventricular outflow tract "An abnormality of the `outflow tract of the left ventricle` (FMA:9473)." [HPO:probinson]
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 HP:0030148 Heart murmur "An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000121989 ACVR2A / P27037 / activin A receptor type 2A  / reaction / complex
 ENSG00000138696 BMPR1B / O00238 / bone morphogenetic protein receptor type 1B  / reaction / complex
 ENSG00000120693 SMAD9 / O15198 / SMAD family member 9  / reaction / complex
 ENSG00000170365 SMAD1 / Q15797 / SMAD family member 1  / reaction / complex
 ENSG00000198742 Q9HCE7 / SMURF1 / SMAD specific E3 ubiquitin protein ligase 1  / complex
 ENSG00000113658 SMAD5 / Q99717 / SMAD family member 5  / reaction / complex
 ENSG00000108854 Q9HAU4 / SMURF2 / SMAD specific E3 ubiquitin protein ligase 2  / complex
 ENSG00000114739 ACVR2B / Q13705 / activin A receptor type 2B  / complex / reaction
 ENSG00000204217 BMPR2 / Q13873 / bone morphogenetic protein receptor type 2  / complex / reaction
 ENSG00000107779 BMPR1A / P36894 / bone morphogenetic protein receptor type 1A  / complex / reaction
 ENSG00000125845 BMP2 / P12643 / bone morphogenetic protein 2  / complex / reaction






 

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