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SMAD6 (SMAD family member 6)

Identity

Other namesAOVD2
HsT17432
MADH6
MADH7
HGNC (Hugo) SMAD6
LocusID (NCBI) 4091
Location 15q22.31
Location_base_pair Starts at 67000930 and ends at 67074337 bp from pter ( according to hg19-Feb_2009)
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
GeneCards (Weizmann)SMAD6
Ensembl (Hinxton)ENSG00000137834 [Gene_View]  chr15:67000930-67074337 [Contig_View]  SMAD6 [Vega]
ICGC DataPortalENSG00000137834
AceView (NCBI)SMAD6
Genatlas (Paris)SMAD6
WikiGenes4091
SOURCE (Princeton)NM_001142861 NM_005585
Genomic and cartography
GoldenPath (UCSC)SMAD6  -  15q22.31   chr15:67000930-67074337 +  15q22.31   [Description]    (hg19-Feb_2009)
EnsemblSMAD6 - 15q22.31 [CytoView]
Mapping of homologs : NCBISMAD6 [Mapview]
OMIM602931   614823   
Gene and transcription
Genbank (Entrez)AF035528 AF037469 AF043640 AM909653 BC012986
RefSeq transcript (Entrez)NM_001142861 NM_005585
RefSeq genomic (Entrez)AC_000147 NC_000015 NC_018926 NG_012244 NT_010194 NW_001838218 NW_004929398
Consensus coding sequences : CCDS (NCBI)SMAD6
Cluster EST : UnigeneHs.153863 [ NCBI ]
CGAP (NCI)Hs.153863
Alternative Splicing : Fast-db (Paris)GSHG0009952
Alternative Splicing GalleryENSG00000137834
Gene ExpressionSMAD6 [ NCBI-GEO ]     SMAD6 [ SEEK ]   SMAD6 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43541 (Uniprot)
NextProtO43541  [Medical]
With graphics : InterProO43541
Splice isoforms : SwissVarO43541 (Swissvar)
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   
Related proteins : CluSTrO43541
Domain families : Pfam (Sanger)MH1 (PF03165)    MH2 (PF03166)   
Domain families : Pfam (NCBI)pfam03165    pfam03166   
Domain families : Smart (EMBL)DWA (SM00523)  DWB (SM00524)  
DMDM Disease mutations4091
Blocks (Seattle)O43541
Human Protein AtlasENSG00000137834
Peptide AtlasO43541
HPRD04240
IPIIPI00012869   IPI00218149   IPI00884203   IPI00921083   
Protein Interaction databases
DIP (DOE-UCLA)O43541
IntAct (EBI)O43541
FunCoupENSG00000137834
BioGRIDSMAD6
IntegromeDBSMAD6
STRING (EMBL)SMAD6
Ontologies - Pathways
QuickGOO43541
Ontology : AmiGOureteric bud development  chromatin binding  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  transcription factor complex  cytoplasm  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  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  intracellular signal transduction  intracellular signal transduction  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  co-SMAD binding  I-SMAD binding  R-SMAD binding  type I activin receptor binding  
Ontology : EGO-EBIureteric bud development  chromatin binding  sequence-specific DNA binding transcription factor activity  protein binding  nucleus  transcription factor complex  cytoplasm  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  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  intracellular signal transduction  intracellular signal transduction  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  co-SMAD binding  I-SMAD binding  R-SMAD binding  type I activin receptor binding  
Pathways : BIOCARTAALK in cardiac myocytes [Genes]   
Pathways : KEGGEndocytosis    TGF-beta signaling pathway   
Protein Interaction DatabaseSMAD6
Wikipedia pathwaysSMAD6
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SMAD6
SNP (GeneSNP Utah)SMAD6
SNP : HGBaseSMAD6
Genetic variants : HAPMAPSMAD6
1000_GenomesSMAD6 
ICGC programENSG00000137834 
CONAN: Copy Number AnalysisSMAD6 
Somatic Mutations in Cancer : COSMICSMAD6 
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
DECIPHER (Syndromes)15:67000930-67074337
Mutations and Diseases : HGMDSMAD6
OMIM602931    614823   
MedgenSMAD6
GENETestsSMAD6
Disease Genetic AssociationSMAD6
Huge Navigator SMAD6 [HugePedia]  SMAD6 [HugeCancerGEM]
Genomic VariantsSMAD6  SMAD6 [DGVbeta]
Exome VariantSMAD6
dbVarSMAD6
ClinVarSMAD6
snp3D : Map Gene to Disease4091
General knowledge
Homologs : HomoloGeneSMAD6
Homology/Alignments : Family Browser (UCSC)SMAD6
Phylogenetic Trees/Animal Genes : TreeFamSMAD6
Chemical/Protein Interactions : CTD4091
Chemical/Pharm GKB GenePA30529
Clinical trialSMAD6
Cancer Resource (Charite)ENSG00000137834
Other databases
Probes
Litterature
PubMed81 Pubmed reference(s) in Entrez
CoreMineSMAD6
GoPubMedSMAD6
iHOPSMAD6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Nov 8 17:57:48 CET 2014

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