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

Gene ID: 4092, updated on 11-Jul-2021

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
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
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Genomic context

See SMAD7 in Genome Data Viewer
Location:
18q21.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (48919853..48950965, complement)
105.20201022 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 Sharpr-MPRA regulatory region 12870 Neighboring gene uncharacterized LOC105372108 Neighboring gene uncharacterized LOC100129878 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
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3.
GeneReviews: Not available
A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.
GeneReviews: Not available
Colorectal cancer 3
MedGen: C2677123 OMIM: 612229 GeneReviews: Not available
Compare labs
Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.
GeneReviews: Not available
Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians.
GeneReviews: Not available
GWAS of dental caries patterns in the permanent dentition.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
GeneReviews: Not available
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
GeneReviews: Not available
Meta-analysis of new genome-wide association studies of colorectal cancer risk.
GeneReviews: Not available

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

Homology

Clone Names

  • FLJ16482

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables I-SMAD binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables I-SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables activin 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 regulator inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
Process Evidence Code Pubs
involved_in BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
involved_in cellular protein-containing complex localization IDA
Inferred from Direct Assay
more info
PubMed 
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 DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
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 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 IC
Inferred by Curator
more info
PubMed 
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 pathway-restricted SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of pathway-restricted SMAD protein phosphorylation TAS
Traceable Author Statement
more info
PubMed 
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 ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in pathway-restricted SMAD protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
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 IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein stabilization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of activin receptor signaling pathway 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
PubMed 
involved_in regulation of transforming growth factor beta receptor signaling pathway IC
Inferred by Curator
more info
PubMed 
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
PubMed 
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
 
located_in 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
PubMed 
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 
located_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
    5001..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

    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
    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
    O15105
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

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