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SMAD7 (SMAD family member 7)

Identity

Alias_namesMADH8
MADH7
MAD, mothers against decapentaplegic homolog 7 (Drosophila)
SMAD, mothers against DPP homolog 7 (Drosophila)
Other aliasCRCS3
HGNC (Hugo) SMAD7
LocusID (NCBI) 4092
Atlas_Id 41232
Location 18q21.1  [Link to chromosome band 18q21]
Location_base_pair Starts at 48919853 and ends at 48950711 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
SMAD7 (18q21.1) / DYM (18q21.1)SMAD7 (18q21.1) / SMAD7 (18q21.1)SMAD7 (18q21.1) / SUMF1 (3p26.1)
SMAD7 18q21.1 / DYM 18q21.1

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)SMAD7   6773
Cards
Entrez_Gene (NCBI)SMAD7  4092  SMAD family member 7
AliasesCRCS3; MADH7; MADH8
GeneCards (Weizmann)SMAD7
Ensembl hg19 (Hinxton)ENSG00000101665 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101665 [Gene_View]  chr18:48919853-48950711 [Contig_View]  SMAD7 [Vega]
ICGC DataPortalENSG00000101665
TCGA cBioPortalSMAD7
AceView (NCBI)SMAD7
Genatlas (Paris)SMAD7
WikiGenes4092
SOURCE (Princeton)SMAD7
Genetics Home Reference (NIH)SMAD7
Genomic and cartography
GoldenPath hg38 (UCSC)SMAD7  -     chr18:48919853-48950711 -  18q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMAD7  -     18q21.1   [Description]    (hg19-Feb_2009)
EnsemblSMAD7 - 18q21.1 [CytoView hg19]  SMAD7 - 18q21.1 [CytoView hg38]
Mapping of homologs : NCBISMAD7 [Mapview hg19]  SMAD7 [Mapview hg38]
OMIM602932   612229   
Gene and transcription
Genbank (Entrez)AF010193 AF015261 AK131394 AK301535 BC074818
RefSeq transcript (Entrez)NM_001190821 NM_001190822 NM_001190823 NM_005904
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SMAD7
Cluster EST : UnigeneHs.465087 [ NCBI ]
CGAP (NCI)Hs.465087
Alternative Splicing GalleryENSG00000101665
Gene ExpressionSMAD7 [ NCBI-GEO ]   SMAD7 [ EBI - ARRAY_EXPRESS ]   SMAD7 [ SEEK ]   SMAD7 [ MEM ]
Gene Expression Viewer (FireBrowse)SMAD7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4092
GTEX Portal (Tissue expression)SMAD7
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15105   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15105  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15105
Splice isoforms : SwissVarO15105
PhosPhoSitePlusO15105
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)SMAD7
DMDM Disease mutations4092
Blocks (Seattle)SMAD7
PDB (SRS)2DJY    2KXQ    2LTV    2LTW    2LTX    2LTY    2LTZ   
PDB (PDBSum)2DJY    2KXQ    2LTV    2LTW    2LTX    2LTY    2LTZ   
PDB (IMB)2DJY    2KXQ    2LTV    2LTW    2LTX    2LTY    2LTZ   
PDB (RSDB)2DJY    2KXQ    2LTV    2LTW    2LTX    2LTY    2LTZ   
Structural Biology KnowledgeBase2DJY    2KXQ    2LTV    2LTW    2LTX    2LTY    2LTZ   
SCOP (Structural Classification of Proteins)2DJY    2KXQ    2LTV    2LTW    2LTX    2LTY    2LTZ   
CATH (Classification of proteins structures)2DJY    2KXQ    2LTV    2LTW    2LTX    2LTY    2LTZ   
SuperfamilyO15105
Human Protein AtlasENSG00000101665
Peptide AtlasO15105
HPRD04241
IPIIPI00005079   IPI00976588   IPI00922705   IPI00977756   
Protein Interaction databases
DIP (DOE-UCLA)O15105
IntAct (EBI)O15105
FunCoupENSG00000101665
BioGRIDSMAD7
STRING (EMBL)SMAD7
ZODIACSMAD7
Ontologies - Pathways
QuickGOO15105
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  fibrillar center  ureteric bud development  negative regulation of T cell cytokine production  transcription factor activity, sequence-specific DNA binding  protein binding  collagen binding  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  cytoplasm  centrosome  cytosol  cytosol  plasma membrane  cell-cell adherens junction  transcription, DNA-templated  transforming growth factor beta receptor signaling pathway  beta-catenin binding  regulation of epithelial to mesenchymal transition  negative regulation of epithelial to mesenchymal transition  negative regulation of epithelial to mesenchymal transition  negative regulation of peptidyl-threonine phosphorylation  negative regulation of transcription by competitive promoter binding  catenin complex  protein deubiquitination  regulation of transforming growth factor beta receptor signaling pathway  positive regulation of cell-cell adhesion  negative regulation of cell migration  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  transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity  negative regulation of protein ubiquitination  positive regulation of protein ubiquitination  ubiquitin protein ligase binding  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  regulation of activin receptor signaling pathway  negative regulation of peptidyl-serine phosphorylation  adherens junction assembly  response to laminar fluid shear stress  cellular protein complex localization  type I transforming growth factor beta receptor binding  protein complex  negative regulation of sequence-specific DNA binding transcription factor activity  transcription regulatory region DNA binding  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  activin binding  artery morphogenesis  protein stabilization  negative regulation of ubiquitin-protein transferase activity  ventricular cardiac muscle tissue morphogenesis  regulation of cardiac muscle contraction  regulation of ventricular cardiac muscle cell membrane depolarization  pathway-restricted SMAD protein phosphorylation  negative regulation of pathway-restricted SMAD protein phosphorylation  negative regulation of pathway-restricted SMAD protein phosphorylation  ventricular septum morphogenesis  I-SMAD binding  cellular response to transforming growth factor beta stimulus  negative regulation of T-helper 17 type immune response  negative regulation of T-helper 17 cell differentiation  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  fibrillar center  ureteric bud development  negative regulation of T cell cytokine production  transcription factor activity, sequence-specific DNA binding  protein binding  collagen binding  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  cytoplasm  centrosome  cytosol  cytosol  plasma membrane  cell-cell adherens junction  transcription, DNA-templated  transforming growth factor beta receptor signaling pathway  beta-catenin binding  regulation of epithelial to mesenchymal transition  negative regulation of epithelial to mesenchymal transition  negative regulation of epithelial to mesenchymal transition  negative regulation of peptidyl-threonine phosphorylation  negative regulation of transcription by competitive promoter binding  catenin complex  protein deubiquitination  regulation of transforming growth factor beta receptor signaling pathway  positive regulation of cell-cell adhesion  negative regulation of cell migration  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  transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity  negative regulation of protein ubiquitination  positive regulation of protein ubiquitination  ubiquitin protein ligase binding  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  regulation of activin receptor signaling pathway  negative regulation of peptidyl-serine phosphorylation  adherens junction assembly  response to laminar fluid shear stress  cellular protein complex localization  type I transforming growth factor beta receptor binding  protein complex  negative regulation of sequence-specific DNA binding transcription factor activity  transcription regulatory region DNA binding  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  activin binding  artery morphogenesis  protein stabilization  negative regulation of ubiquitin-protein transferase activity  ventricular cardiac muscle tissue morphogenesis  regulation of cardiac muscle contraction  regulation of ventricular cardiac muscle cell membrane depolarization  pathway-restricted SMAD protein phosphorylation  negative regulation of pathway-restricted SMAD protein phosphorylation  negative regulation of pathway-restricted SMAD protein phosphorylation  ventricular septum morphogenesis  I-SMAD binding  cellular response to transforming growth factor beta stimulus  negative regulation of T-helper 17 type immune response  negative regulation of T-helper 17 cell differentiation  
Pathways : BIOCARTATGF beta signaling pathway [Genes]   
Pathways : KEGGEndocytosis    TGF-beta signaling pathway    Hippo signaling pathway   
NDEx NetworkSMAD7
Atlas of Cancer Signalling NetworkSMAD7
Wikipedia pathwaysSMAD7
Orthology - Evolution
OrthoDB4092
GeneTree (enSembl)ENSG00000101665
Phylogenetic Trees/Animal Genes : TreeFamSMAD7
HOVERGENO15105
HOGENOMO15105
Homologs : HomoloGeneSMAD7
Homology/Alignments : Family Browser (UCSC)SMAD7
Gene fusions - Rearrangements
Fusion : MitelmanSMAD7/DYM [18q21.1/18q21.1]  
Fusion: TCGASMAD7 18q21.1 DYM 18q21.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMAD7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMAD7
dbVarSMAD7
ClinVarSMAD7
1000_GenomesSMAD7 
Exome Variant ServerSMAD7
ExAC (Exome Aggregation Consortium)SMAD7 (select the gene name)
Genetic variants : HAPMAP4092
Genomic Variants (DGV)SMAD7 [DGVbeta]
DECIPHERSMAD7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMAD7 
Mutations
ICGC Data PortalSMAD7 
TCGA Data PortalSMAD7 
Broad Tumor PortalSMAD7
OASIS PortalSMAD7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMAD7  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSMAD7
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
BioMutasearch SMAD7
DgiDB (Drug Gene Interaction Database)SMAD7
DoCM (Curated mutations)SMAD7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMAD7 (select a term)
intoGenSMAD7
Cancer3DSMAD7(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602932    612229   
Orphanet
MedgenSMAD7
Genetic Testing Registry SMAD7
NextProtO15105 [Medical]
TSGene4092
GENETestsSMAD7
Target ValidationSMAD7
Huge Navigator SMAD7 [HugePedia]
snp3D : Map Gene to Disease4092
BioCentury BCIQSMAD7
ClinGenSMAD7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4092
Chemical/Pharm GKB GenePA134875286
Clinical trialSMAD7
Miscellaneous
canSAR (ICR)SMAD7 (select the gene name)
Probes
Litterature
PubMed279 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMAD7
EVEXSMAD7
GoPubMedSMAD7
iHOPSMAD7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:15:04 CEST 2017

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