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SMAD6 (SMAD family member 6)

Identity

Alias (NCBI)AOVD2
HsT17432
MADH6
MADH7
HGNC (Hugo) SMAD6
HGNC Alias symbHsT17432
HGNC Previous nameMADH7
 MADH6
HGNC Previous nameMAD, mothers against decapentaplegic homolog 6 (Drosophila)
 SMAD, mothers against DPP homolog 6 (Drosophila)
LocusID (NCBI) 4091
Atlas_Id 41231
Location 15q22.31  [Link to chromosome band 15q22]
Location_base_pair Starts at 66702236 and ends at 66782849 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MAP2K5 (15q23)::SMAD6 (15q22.31)SMAD3 (15q22.33)::SMAD6 (15q22.31)SMAD6 (15q22.31)::CGA (6q14.3)
MAP2K5 15q23::SMAD6 15q22.31SMAD3 15q22.33::SMAD6 15q22.31

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)SMAD6   6772
Cards
Entrez_Gene (NCBI)SMAD6    SMAD family member 6
AliasesAOVD2; HsT17432; MADH6; MADH7
GeneCards (Weizmann)SMAD6
Ensembl hg19 (Hinxton)ENSG00000137834 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000137834 [Gene_View]  ENSG00000137834 [Sequence]  chr15:66702236-66782849 [Contig_View]  SMAD6 [Vega]
ICGC DataPortalENSG00000137834
TCGA cBioPortalSMAD6
AceView (NCBI)SMAD6
Genatlas (Paris)SMAD6
SOURCE (Princeton)SMAD6
Genetics Home Reference (NIH)SMAD6
Genomic and cartography
GoldenPath hg38 (UCSC)SMAD6  -     chr15:66702236-66782849 +  15q22.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMAD6  -     15q22.31   [Description]    (hg19-Feb_2009)
GoldenPathSMAD6 - 15q22.31 [CytoView hg19]  SMAD6 - 15q22.31 [CytoView hg38]
ImmunoBaseENSG00000137834
Genome Data Viewer NCBISMAD6 [Mapview hg19]  
OMIM602931   614823   617439   
Gene and transcription
Genbank (Entrez)AF035528 AF037469 AF043640 AM909653 BC012986
RefSeq transcript (Entrez)NM_001142861 NM_005585
Consensus coding sequences : CCDS (NCBI)SMAD6
Gene ExpressionSMAD6 [ NCBI-GEO ]   SMAD6 [ EBI - ARRAY_EXPRESS ]   SMAD6 [ SEEK ]   SMAD6 [ MEM ]
Gene Expression Viewer (FireBrowse)SMAD6 [ Firebrowse - Broad ]
GenevisibleExpression of SMAD6 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4091
GTEX Portal (Tissue expression)SMAD6
Human Protein AtlasENSG00000137834-SMAD6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43541   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43541  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43541
PhosPhoSitePlusO43541
Domaine pattern : Prosite (Expaxy)MH1 (PS51075)    MH2 (PS51076)   
Domains : Interpro (EBI)Dwarfin    MAD_homology1_Dwarfin-type    MAD_homology_MH1    SMAD-like_dom_sf    SMAD_dom_Dwarfin-type    SMAD_FHA_dom_sf    SMAD_MH1_sf   
Domain families : Pfam (Sanger)MH1 (PF03165)    MH2 (PF03166)   
Domain families : Pfam (NCBI)pfam03165    pfam03166   
Domain families : Smart (EMBL)DWA (SM00523)  DWB (SM00524)  
Conserved Domain (NCBI)SMAD6
SuperfamilyO43541
AlphaFold pdb e-kbO43541   
Human Protein Atlas [tissue]ENSG00000137834-SMAD6 [tissue]
HPRD04240
Protein Interaction databases
DIP (DOE-UCLA)O43541
IntAct (EBI)O43541
BioGRIDSMAD6
STRING (EMBL)SMAD6
ZODIACSMAD6
Ontologies - Pathways
QuickGOO43541
Ontology : AmiGOchromatin  transcription cis-regulatory region binding  ureteric bud development  outflow tract septum morphogenesis  aortic valve morphogenesis  mitral valve morphogenesis  pulmonary valve morphogenesis  ventricular septum development  chromatin binding  protein binding  nucleus  nucleoplasm  cytoplasm  Golgi apparatus  cytosol  cytosol  regulation of transcription by RNA polymerase II  immune response  transforming growth factor beta receptor signaling pathway  zygotic specification of dorsal/ventral axis  negative regulation of cell population proliferation  anatomical structure morphogenesis  negative regulation of SMAD protein complex assembly  nuclear body  cell differentiation  negative regulation of ossification  BMP signaling pathway  BMP signaling pathway  negative regulation of transforming growth factor beta receptor signaling pathway  negative regulation of transforming growth factor beta receptor signaling pathway  negative regulation of BMP signaling pathway  negative regulation of BMP signaling pathway  negative regulation of BMP signaling pathway  cell-substrate adhesion  ubiquitin protein ligase binding  response to lipopolysaccharide  protein-containing complex  response to laminar fluid shear stress  type I transforming growth factor beta receptor binding  aorta development  identical protein binding  negative regulation of apoptotic process  response to estrogen  fat cell differentiation  negative regulation of osteoblast differentiation  metal ion binding  negative regulation of pathway-restricted SMAD protein phosphorylation  negative regulation of pathway-restricted SMAD protein phosphorylation  SMAD protein signal transduction  coronary vasculature development  co-SMAD binding  I-SMAD binding  I-SMAD binding  R-SMAD binding  type I activin receptor binding  heteromeric SMAD protein complex  transcription regulator inhibitor activity  transcription regulator inhibitor activity  transcription regulator inhibitor activity  positive regulation of pri-miRNA transcription by RNA polymerase II  
Ontology : EGO-EBIchromatin  transcription cis-regulatory region binding  ureteric bud development  outflow tract septum morphogenesis  aortic valve morphogenesis  mitral valve morphogenesis  pulmonary valve morphogenesis  ventricular septum development  chromatin binding  protein binding  nucleus  nucleoplasm  cytoplasm  Golgi apparatus  cytosol  cytosol  regulation of transcription by RNA polymerase II  immune response  transforming growth factor beta receptor signaling pathway  zygotic specification of dorsal/ventral axis  negative regulation of cell population proliferation  anatomical structure morphogenesis  negative regulation of SMAD protein complex assembly  nuclear body  cell differentiation  negative regulation of ossification  BMP signaling pathway  BMP signaling pathway  negative regulation of transforming growth factor beta receptor signaling pathway  negative regulation of transforming growth factor beta receptor signaling pathway  negative regulation of BMP signaling pathway  negative regulation of BMP signaling pathway  negative regulation of BMP signaling pathway  cell-substrate adhesion  ubiquitin protein ligase binding  response to lipopolysaccharide  protein-containing complex  response to laminar fluid shear stress  type I transforming growth factor beta receptor binding  aorta development  identical protein binding  negative regulation of apoptotic process  response to estrogen  fat cell differentiation  negative regulation of osteoblast differentiation  metal ion binding  negative regulation of pathway-restricted SMAD protein phosphorylation  negative regulation of pathway-restricted SMAD protein phosphorylation  SMAD protein signal transduction  coronary vasculature development  co-SMAD binding  I-SMAD binding  I-SMAD binding  R-SMAD binding  type I activin receptor binding  heteromeric SMAD protein complex  transcription regulator inhibitor activity  transcription regulator inhibitor activity  transcription regulator inhibitor activity  positive regulation of pri-miRNA transcription by RNA polymerase II  
Pathways : BIOCARTAALK in cardiac myocytes [Genes]   
Pathways : KEGGEndocytosis    TGF-beta signaling pathway   
NDEx NetworkSMAD6
Atlas of Cancer Signalling NetworkSMAD6
Wikipedia pathwaysSMAD6
Orthology - Evolution
OrthoDB4091
GeneTree (enSembl)ENSG00000137834
Phylogenetic Trees/Animal Genes : TreeFamSMAD6
Homologs : HomoloGeneSMAD6
Homology/Alignments : Family Browser (UCSC)SMAD6
Gene fusions - Rearrangements
Fusion : MitelmanMAP2K5::SMAD6 [15q23/15q22.31]  
Fusion : MitelmanSMAD3::SMAD6 [15q22.33/15q22.31]  
Fusion : QuiverSMAD6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMAD6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMAD6
dbVarSMAD6
ClinVarSMAD6
MonarchSMAD6
1000_GenomesSMAD6 
Exome Variant ServerSMAD6
GNOMAD BrowserENSG00000137834
Varsome BrowserSMAD6
ACMGSMAD6 variants
VarityO43541
Genomic Variants (DGV)SMAD6 [DGVbeta]
DECIPHERSMAD6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMAD6 
Mutations
ICGC Data PortalSMAD6 
TCGA Data PortalSMAD6 
Broad Tumor PortalSMAD6
OASIS PortalSMAD6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMAD6  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSMAD6
Mutations and Diseases : HGMDSMAD6
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSMAD6
DgiDB (Drug Gene Interaction Database)SMAD6
DoCM (Curated mutations)SMAD6
CIViC (Clinical Interpretations of Variants in Cancer)SMAD6
Cancer3DSMAD6
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602931    614823    617439   
Orphanet22877   
DisGeNETSMAD6
MedgenSMAD6
Genetic Testing Registry SMAD6
NextProtO43541 [Medical]
GENETestsSMAD6
Target ValidationSMAD6
Huge Navigator SMAD6 [HugePedia]
ClinGenSMAD6
Clinical trials, drugs, therapy
MyCancerGenomeSMAD6
Protein Interactions : CTDSMAD6
Pharm GKB GenePA30529
PharosO43541
Clinical trialSMAD6
Miscellaneous
canSAR (ICR)SMAD6
HarmonizomeSMAD6
ARCHS4SMAD6
DataMed IndexSMAD6
Probes
Litterature
PubMed110 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSMAD6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun Jan 16 18:34:29 CET 2022

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