Version: 8.0.0
Date: Tue Jan 28 2025
SMAD3
Homo sapiensHGNC:6769
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

SMAD3

Species
Homo sapiens
Symbol
SMAD3
Name
SMAD family member 3
Synonyms
  • DKFZp586N0721
  • DKFZp686J10186
Biotype
protein coding gene
Automated Description
Enables several functions, including DNA-binding transcription factor binding activity; enzyme binding activity; and transcription coregulator binding activity. Contributes to DNA-binding transcription factor activity. Involved in several processes, including cell surface receptor protein serine/threonine kinase signaling pathway; positive regulation of SMAD protein signal transduction; and regulation of gene expression. Located in chromatin; cytosol; and nucleus. Part of heteromeric SMAD protein complex and receptor complex. Implicated in Loeys-Dietz syndrome 3; Lynch syndrome; and pancreatic cancer. Biomarker of cervical squamous cell carcinoma; endometrial cancer; lung non-small cell carcinoma; and prostate cancer.
RGD Description
The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. The SMAD3 protein functions in the transforming growth factor-beta signaling pathway, and transmits signals from the cell surface to the nucleus, regulating gene activity and cell proliferation. This protein forms a complex with other SMAD proteins and binds DNA, functioning both as a transcription factor and tumor suppressor. Mutations in this gene are associated with aneurysms-osteoarthritis syndrome and Loeys-Dietz Syndrome 3. [provided by RefSeq, May 2022]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR13703
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          SMAD3 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            SMAD3 role
            SMAD3 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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