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

    Gene ID: 4092, updated on 5-May-2024

    Summary

    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; AllianceGenome:HGNC:6773
    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]
    Expression
    Ubiquitous expression in lung (RPKM 15.3), placenta (RPKM 11.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SMAD7 in Genome Data Viewer
    Location:
    18q21.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (48919853..48950965, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (49115112..49146228, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (46446223..46477335, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene cap binding complex dependent translation initiation factor Neighboring gene uncharacterized LOC105372105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46359045-46359708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46362171-46363071 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46363072-46363971 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46364242-46365020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46365021-46365799 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46370909-46371409 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46384077-46384578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46388739-46389290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13301 Neighboring gene Sharpr-MPRA regulatory region 12870 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:46404101-46404331 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46419523-46420032 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46420541-46421048 Neighboring gene Sharpr-MPRA regulatory region 7610 Neighboring gene uncharacterized LOC124904355 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46449409-46450340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46452405-46453366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13305 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46459221-46460106 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13306 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:46468263-46469462 Neighboring gene NANOG hESC enhancer GRCh37_chr18:46474665-46475166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9441 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:46484995-46485788 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46485789-46486582 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46486583-46487376 Neighboring gene uncharacterized LOC105372108 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46488965-46489758 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9442 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9443 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9444 Neighboring gene NANOG hESC enhancer GRCh37_chr18:46510218-46510719 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46517299-46517928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46520991-46521760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46521761-46522528 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46522886-46523584 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:46526490-46526679 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46527272-46528182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46534574-46535074 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46551737-46552638 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:46556151-46556299 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46570761-46571726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46571727-46572691 Neighboring gene DYM antisense RNA 1 Neighboring gene dymeclin

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ16482

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables I-SMAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables I-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables activin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables beta-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables collagen binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription regulator inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables transcription regulator inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables type I transforming growth factor beta receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin-like ligase-substrate adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in SMAD protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in adherens junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in artery morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to transforming growth factor beta stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of SMAD protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of SMAD protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of T cell cytokine production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of T-helper 17 cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of T-helper 17 type immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of activin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell migration TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of chondrocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of epithelial to mesenchymal transition TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of ossification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of peptidyl-threonine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by competitive promoter binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of chondrocyte hypertrophy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein-containing complex localization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cardiac muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of epithelial to mesenchymal transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of ventricular cardiac muscle cell membrane depolarization IC
    Inferred by Curator
    more info
    PubMed 
    involved_in response to laminar fluid shear stress IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ureteric bud development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventricular cardiac muscle tissue morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ventricular septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    colocalizes_with adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
     
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    part_of heteromeric SMAD protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4747..35859
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001190821.2NP_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
      Consensus CDS
      CCDS59317.1
      UniProtKB/Swiss-Prot
      O15105
      Related
      ENSP00000467621.1, ENST00000589634.1
      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_001190822.2NP_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, ENST00000591805.5
      Conserved Domains (1) summary
      cd10500
      Location:39209
      MH2_SMAD_7; C-terminal Mad Homology 2 (MH2) domain in SMAD7
    3. NM_001190823.2NP_001177752.1  mothers against decapentaplegic homolog 7 isoform 4 precursor

      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/TrEMBL
      B3KYA8
      Related
      ENST00000545051.2
      Conserved Domains (1) summary
      cd10500
      Location:66236
      MH2_SMAD_7; C-terminal Mad Homology 2 (MH2) domain in SMAD7
    4. NM_005904.4NP_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
      Consensus CDS
      CCDS11936.1
      UniProtKB/Swiss-Prot
      B7Z773, K7EQ10, O14740, O15105, Q6DK23
      Related
      ENSP00000262158.2, ENST00000262158.8
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      48919853..48950965 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437509.1XP_047293465.1  mothers against decapentaplegic homolog 7 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      49115112..49146228 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318623.1XP_054174598.1  mothers against decapentaplegic homolog 7 isoform X1