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    SMAD7 SMAD family member 7 [ Homo sapiens (human) ]

    Gene ID: 4092, updated on 15-May-2017
    Official Symbol
    SMAD7provided by HGNC
    Official Full Name
    SMAD family member 7provided by HGNC
    Primary source
    HGNC:HGNC:6773
    See related
    Ensembl:ENSG00000101665 MIM:602932; Vega:OTTHUMG00000132655
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CRCS3; MADH7; MADH8
    Summary
    The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
    Orthologs
    Location:
    18q21.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 18 NC_000018.10 (48919853..48950711, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (46446223..46477081, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene cap binding complex dependent translation initiation factor Neighboring gene uncharacterized LOC105372106 Neighboring gene uncharacterized LOC105372105 Neighboring gene uncharacterized LOC105372108 Neighboring gene uncharacterized LOC105372110 Neighboring gene uncharacterized LOC105372109

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Colorectal cancer 3
    MedGen: C2677123 OMIM: 612229 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3.
    NHGRI GWA Catalog
    A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.
    NHGRI GWA Catalog
    Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.
    NHGRI GWA Catalog
    Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians.
    NHGRI GWA Catalog
    GWAS of dental caries patterns in the permanent dentition.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
    NHGRI GWA Catalog
    Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
    NHGRI GWA Catalog
    Meta-analysis of new genome-wide association studies of colorectal cancer risk.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of SMAD family member 7 (SMAD7) in human B cells PubMed
    env HIV-1 gp120-induced apoptosis in human proximal renal tubular cells is significantly enhanced by p300, and Smad7 and an anti-TGF-beta antibody inhibit this effect of p300 PubMed

    Go to the HIV-1, Human Interaction Database

    • ALK1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      ALK1 signaling events, organism-specific biosystem
      ALK1 signaling events
    • Apoptosis-related network due to altered Notch3 in ovarian cancer, organism-specific biosystem (from WikiPathways)
      Apoptosis-related network due to altered Notch3 in ovarian cancer, organism-specific biosystemResults of pathway analysis of apoptosis-related genes in OVCAR3 cells treated with Notch3 siRNA or control siRNA.
    • BMP receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      BMP receptor signaling, organism-specific biosystem
      BMP receptor signaling
    • Deubiquitination, organism-specific biosystem (from REACTOME)
      Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
    • Downregulation of TGF-beta receptor signaling, organism-specific biosystem (from REACTOME)
      Downregulation of TGF-beta receptor signaling, organism-specific biosystemTGF-beta receptor signaling is downregulated by proteasome and lysosome-mediated degradation of ubiquitinated TGFBR1, SMAD2 and SMAD3, as well as by dephosphorylation of TGFBR1, SMAD2 and SMAD3. In t...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Hfe effect on hepcidin production, organism-specific biosystem (from WikiPathways)
      Hfe effect on hepcidin production, organism-specific biosystemnew pathway, converted from mouse WP3673
    • Hippo signaling pathway, organism-specific biosystem (from KEGG)
      Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Hippo signaling pathway, conserved biosystem (from KEGG)
      Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • IFN-gamma pathway, organism-specific biosystem (from Pathway Interaction Database)
      IFN-gamma pathway, organism-specific biosystem
      IFN-gamma pathway
    • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
    • Lung fibrosis, organism-specific biosystem (from WikiPathways)
      Lung fibrosis, organism-specific biosystemLung fibrosis pathway linked to events (molecular initiating event, key events and associative events) in a putative Adverse Outcome Pathway for lung fibrosis.
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem
      Regulation of nuclear SMAD2/3 signaling
    • SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription, organism-specific biosystem (from REACTOME)
      SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription, organism-specific biosystemAfter phosphorylated SMAD2 and/or SMAD3 form a heterotrimer with SMAD4, SMAD2/3:SMAD4 complex translocates to the nucleus (Xu et al. 2000, Kurisaki et al. 2001, Xiao et al. 2003). In the nucleus, lin...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by BMP, organism-specific biosystem (from REACTOME)
      Signaling by BMP, organism-specific biosystemBone morphogenetic proteins (BMPs) have many biological activities in various tissues, including bone, cartilage, blood vessels, heart, kidney, neurons, liver and lung. They are members of the Transf...
    • Signaling by TGF-beta Receptor Complex, organism-specific biosystem (from REACTOME)
      Signaling by TGF-beta Receptor Complex, organism-specific biosystemThe TGF-beta/BMP pathway incorporates several signaling pathways that share most, but not all, components of a central signal transduction engine. The general signaling scheme is rather simple: upon ...
    • Signaling events mediated by HDAC Class I, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by HDAC Class I, organism-specific biosystem
      Signaling events mediated by HDAC Class I
    • TGF-beta Receptor Signaling, organism-specific biosystem (from WikiPathways)
      TGF-beta Receptor Signaling, organism-specific biosystemThe Transforming growth factor beta (TGFβ) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiat...
    • TGF-beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TGF-beta Signaling Pathway, organism-specific biosystemThe signal transduction mechanisms underlying the pathophysiological activities of transforming growth factor-? (TGF-?) have been extensively studied since its discovery nearly 30 years ago. TGF-? li...
    • TGF-beta receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      TGF-beta receptor signaling, organism-specific biosystem
      TGF-beta receptor signaling
    • TGF-beta receptor signaling activates SMADs, organism-specific biosystem (from REACTOME)
      TGF-beta receptor signaling activates SMADs, organism-specific biosystemBinding of transforming growth factor beta 1 (TGF beta 1, i.e. TGFB1) to TGF beta receptor type 2 (TGFBR2) activates TGF beta receptor signaling cascade. TGFB1 is posttranslationally processed by fur...
    • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
      TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
      TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer, organism-specific biosystem (from REACTOME)
      Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer, organism-specific biosystemIn the nucleus, SMAD2/3:SMAD4 heterotrimer complex acts as a transcriptional regulator. The activity of SMAD2/3 complex is regulated both positively and negatively by association with other transcrip...
    • UCH proteinases, organism-specific biosystem (from REACTOME)
      UCH proteinases, organism-specific biosystemDUBs of the Ub C-terminal Hydrolase (UCH) family are thiol proteases that have an N-terminal catalytic domain sometimes followed by C-terminal extensions that mediate protein-protein interactions. Hu...
    • Ub-specific processing proteases, organism-specific biosystem (from REACTOME)
      Ub-specific processing proteases, organism-specific biosystemUb-specific processing proteases (USPs) are the largest of the DUB families with more than 50 members in humans. The USP catalytic domain varies considerably in size and consists of six conserved mo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ16482

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    I-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    activin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    beta-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    collagen binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    type I transforming growth factor beta receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    BMP signaling pathway TAS
    Traceable Author Statement
    more info
     
    adherens junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    artery morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular protein complex localization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to transforming growth factor beta stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of T cell cytokine production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of T-helper 17 cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of T-helper 17 type immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of cell migration TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of epithelial to mesenchymal transition IC
    Inferred by Curator
    more info
    PubMed 
    negative regulation of epithelial to mesenchymal transition TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of pathway-restricted SMAD protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of pathway-restricted SMAD protein phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of peptidyl-threonine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of sequence-specific DNA binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription by competitive promoter binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transforming growth factor beta receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    negative regulation of ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pathway-restricted SMAD protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of proteasomal ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    protein deubiquitination TAS
    Traceable Author Statement
    more info
     
    protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of activin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cardiac muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of epithelial to mesenchymal transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transforming growth factor beta receptor signaling pathway IC
    Inferred by Curator
    more info
    PubMed 
    regulation of ventricular cardiac muscle cell membrane depolarization IC
    Inferred by Curator
    more info
    PubMed 
    response to laminar fluid shear stress IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    ureteric bud development IEA
    Inferred from Electronic Annotation
    more info
     
    ventricular cardiac muscle tissue morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ventricular septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    colocalizes_with catenin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with cell-cell adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centrosome IDA
    Inferred from Direct Assay
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    mothers against decapentaplegic homolog 7
    Names
    MAD (mothers against decapentaplegic, Drosophila) homolog 7
    MAD homolog 8
    Mothers against decapentaplegic, drosophila, homolog of, 7
    SMAD, mothers against DPP homolog 7
    hSMAD7
    mothers against DPP homolog 8

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023330.1 RefSeqGene

      Range
      5001..35859
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001190821.1NP_001177750.1  mothers against decapentaplegic homolog 7 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.
      Source sequence(s)
      AC114684, AF010193, DA882147
      Consensus CDS
      CCDS59317.1
      UniProtKB/Swiss-Prot
      O15105
      Related
      ENSP00000467621.1, OTTHUMP00000263158, ENST00000589634.1, OTTHUMT00000448901
      Conserved Domains (2) summary
      cd10494
      Location:60205
      MH1_SMAD_7; N-terminal Mad Homology 1 (MH1) domain in SMAD7
      cd10500
      Location:253423
      MH2_SMAD_7; C-terminal Mad Homology 2 (MH2) domain in SMAD7
    2. NM_001190822.1NP_001177751.1  mothers against decapentaplegic homolog 7 isoform 3

      See identical proteins and their annotated locations for NP_001177751.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC114684, AF010193, AK301535
      Consensus CDS
      CCDS54186.1
      UniProtKB/Swiss-Prot
      O15105
      Related
      ENSP00000466902.1, OTTHUMP00000262928, ENST00000591805.5, OTTHUMT00000448898
      Conserved Domains (1) summary
      cd10500
      Location:39209
      MH2_SMAD_7; C-terminal Mad Homology 2 (MH2) domain in SMAD7
    3. NM_001190823.1NP_001177752.1  mothers against decapentaplegic homolog 7 isoform 4

      See identical proteins and their annotated locations for NP_001177752.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC114684, AF010193, AK301535, BP363832
      UniProtKB/Swiss-Prot
      O15105
      UniProtKB/TrEMBL
      B3KYA8
      Conserved Domains (1) summary
      cd10500
      Location:66236
      MH2_SMAD_7; C-terminal Mad Homology 2 (MH2) domain in SMAD7
    4. NM_005904.3NP_005895.1  mothers against decapentaplegic homolog 7 isoform 1

      See identical proteins and their annotated locations for NP_005895.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC114684, AF010193
      Consensus CDS
      CCDS11936.1
      UniProtKB/Swiss-Prot
      O15105
      Related
      ENSP00000262158.2, OTTHUMP00000163490, ENST00000262158.6, OTTHUMT00000255906
      Conserved Domains (2) summary
      cd10494
      Location:60205
      MH1_SMAD_7; N-terminal Mad Homology 1 (MH1) domain in SMAD7
      cd10500
      Location:254424
      MH2_SMAD_7; C-terminal Mad Homology 2 (MH2) domain in SMAD7

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p7 Primary Assembly

      Range
      48919853..48950711 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018929.2 Alternate CHM1_1.1

      Range
      46441162..46472026 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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