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SMAD6 (SMAD family member 6)

Identity

Alias_namesMADH7
MADH6
MAD, mothers against decapentaplegic homolog 6 (Drosophila)
SMAD, mothers against DPP homolog 6 (Drosophila)
Alias_symbol (synonym)HsT17432
Other aliasAOVD2
HGNC (Hugo) SMAD6
LocusID (NCBI) 4091
Atlas_Id 41231
Location 15q22.31  [Link to chromosome band 15q22]
Location_base_pair Starts at 66702336 and ends at 66781999 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
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  4091  SMAD family member 6
AliasesAOVD2; HsT17432; MADH6; MADH7
GeneCards (Weizmann)SMAD6
Ensembl hg19 (Hinxton)ENSG00000137834 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000137834 [Gene_View]  chr15:66702336-66781999 [Contig_View]  SMAD6 [Vega]
ICGC DataPortalENSG00000137834
TCGA cBioPortalSMAD6
AceView (NCBI)SMAD6
Genatlas (Paris)SMAD6
WikiGenes4091
SOURCE (Princeton)SMAD6
Genetics Home Reference (NIH)SMAD6
Genomic and cartography
GoldenPath hg38 (UCSC)SMAD6  -     chr15:66702336-66781999 +  15q22.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMAD6  -     15q22.31   [Description]    (hg19-Feb_2009)
EnsemblSMAD6 - 15q22.31 [CytoView hg19]  SMAD6 - 15q22.31 [CytoView hg38]
Mapping of homologs : NCBISMAD6 [Mapview hg19]  SMAD6 [Mapview hg38]
OMIM602931   614823   617439   
Gene and transcription
Genbank (Entrez)AF035528 AF037469 AF043640 AM909653 BC012986
RefSeq transcript (Entrez)NM_001142861 NM_005585
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SMAD6
Cluster EST : UnigeneHs.153863 [ NCBI ]
CGAP (NCI)Hs.153863
Alternative Splicing GalleryENSG00000137834
Gene ExpressionSMAD6 [ NCBI-GEO ]   SMAD6 [ EBI - ARRAY_EXPRESS ]   SMAD6 [ SEEK ]   SMAD6 [ MEM ]
Gene Expression Viewer (FireBrowse)SMAD6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4091
GTEX Portal (Tissue expression)SMAD6
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
Splice isoforms : SwissVarO43541
PhosPhoSitePlusO43541
Domaine pattern : Prosite (Expaxy)MH1 (PS51075)    MH2 (PS51076)   
Domains : Interpro (EBI)Dwarfin    MAD_homology1_Dwarfin-type    MAD_homology_MH1    SMAD_dom-like    SMAD_dom_Dwarfin-type    SMAD_FHA_domain   
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
DMDM Disease mutations4091
Blocks (Seattle)SMAD6
SuperfamilyO43541
Human Protein AtlasENSG00000137834
Peptide AtlasO43541
HPRD04240
IPIIPI00012869   IPI00218149   IPI00884203   IPI00921083   
Protein Interaction databases
DIP (DOE-UCLA)O43541
IntAct (EBI)O43541
FunCoupENSG00000137834
BioGRIDSMAD6
STRING (EMBL)SMAD6
ZODIACSMAD6
Ontologies - Pathways
QuickGOO43541
Ontology : AmiGORNA polymerase II core promoter proximal region sequence-specific DNA binding  ureteric bud development  outflow tract septum morphogenesis  mitral valve morphogenesis  pulmonary valve morphogenesis  ventricular septum development  chromatin binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  transcription factor complex  cytoplasm  Golgi apparatus  cytosol  cytosol  transcription, DNA-templated  immune response  transforming growth factor beta receptor signaling pathway  zygotic specification of dorsal/ventral axis  negative regulation of cell proliferation  negative regulation of SMAD protein complex assembly  nuclear body  negative regulation of ossification  BMP signaling pathway  BMP signaling pathway  negative regulation of transforming growth factor beta receptor signaling pathway  negative regulation of BMP signaling pathway  transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity  transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity  cell-substrate adhesion  ubiquitin protein ligase binding  response to laminar fluid shear stress  type I transforming growth factor beta receptor binding  aorta development  identical protein binding  negative regulation of apoptotic process  protein complex  response to estrogen  transcription regulatory region DNA binding  fat cell differentiation  metal ion binding  negative regulation of pathway-restricted SMAD protein phosphorylation  negative regulation of pathway-restricted SMAD protein phosphorylation  coronary vasculature development  co-SMAD binding  I-SMAD binding  R-SMAD binding  type I activin receptor binding  positive regulation of pri-miRNA transcription from RNA polymerase II promoter  
Ontology : EGO-EBIRNA polymerase II core promoter proximal region sequence-specific DNA binding  ureteric bud development  outflow tract septum morphogenesis  mitral valve morphogenesis  pulmonary valve morphogenesis  ventricular septum development  chromatin binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  transcription factor complex  cytoplasm  Golgi apparatus  cytosol  cytosol  transcription, DNA-templated  immune response  transforming growth factor beta receptor signaling pathway  zygotic specification of dorsal/ventral axis  negative regulation of cell proliferation  negative regulation of SMAD protein complex assembly  nuclear body  negative regulation of ossification  BMP signaling pathway  BMP signaling pathway  negative regulation of transforming growth factor beta receptor signaling pathway  negative regulation of BMP signaling pathway  transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity  transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity  cell-substrate adhesion  ubiquitin protein ligase binding  response to laminar fluid shear stress  type I transforming growth factor beta receptor binding  aorta development  identical protein binding  negative regulation of apoptotic process  protein complex  response to estrogen  transcription regulatory region DNA binding  fat cell differentiation  metal ion binding  negative regulation of pathway-restricted SMAD protein phosphorylation  negative regulation of pathway-restricted SMAD protein phosphorylation  coronary vasculature development  co-SMAD binding  I-SMAD binding  R-SMAD binding  type I activin receptor binding  positive regulation of pri-miRNA transcription from RNA polymerase II promoter  
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
HOVERGENO43541
HOGENOMO43541
Homologs : HomoloGeneSMAD6
Homology/Alignments : Family Browser (UCSC)SMAD6
Gene fusions - Rearrangements
Fusion : MitelmanMAP2K5/SMAD6 [15q23/15q22.31]  [t(15;15)(q22;q23)]  
Fusion : MitelmanSMAD3/SMAD6 [15q22.33/15q22.31]  [t(15;15)(q22;q22)]  
Fusion: TCGAMAP2K5 15q23 SMAD6 15q22.31 LUAD
Fusion: TCGASMAD3 15q22.33 SMAD6 15q22.31 LUED
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMAD6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMAD6
dbVarSMAD6
ClinVarSMAD6
1000_GenomesSMAD6 
Exome Variant ServerSMAD6
ExAC (Exome Aggregation Consortium)SMAD6 (select the gene name)
Genetic variants : HAPMAP4091
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]  
Mutations and Diseases : HGMDSMAD6
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)The Globin Gene Server
BioMutasearch SMAD6
DgiDB (Drug Gene Interaction Database)SMAD6
DoCM (Curated mutations)SMAD6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMAD6 (select a term)
intoGenSMAD6
Cancer3DSMAD6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602931    614823    617439   
Orphanet22877   
MedgenSMAD6
Genetic Testing Registry SMAD6
NextProtO43541 [Medical]
TSGene4091
GENETestsSMAD6
Target ValidationSMAD6
Huge Navigator SMAD6 [HugePedia]
snp3D : Map Gene to Disease4091
BioCentury BCIQSMAD6
ClinGenSMAD6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4091
Chemical/Pharm GKB GenePA30529
Clinical trialSMAD6
Miscellaneous
canSAR (ICR)SMAD6 (select the gene name)
Probes
Litterature
PubMed86 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMAD6
EVEXSMAD6
GoPubMedSMAD6
iHOPSMAD6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:32:01 CEST 2017

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