Version: 8.0.0
Date: Tue Jan 28 2025
SMAD2
Homo sapiensHGNC:6768
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

SMAD2

Species
Homo sapiens
Symbol
SMAD2
Name
SMAD family member 2
Synonyms
  • CHTD8
  • hMAD-2
Biotype
protein coding gene
Automated Description
Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; SMAD binding activity; and enzyme binding activity. Contributes to DNA binding activity and DNA-binding transcription factor activity. Involved in several processes, including regulation of DNA-templated transcription; regulation of transmembrane receptor protein serine/threonine kinase signaling pathway; and transforming growth factor beta receptor superfamily signaling pathway. Acts upstream of or within SMAD protein signal transduction. Located in chromatin; cytoplasm; and nucleus. Part of activin responsive factor complex; heteromeric SMAD protein complex; and homomeric SMAD protein complex. Implicated in Loeys-Dietz syndrome 6; Lynch syndrome; cervical cancer; and ovarian cancer. Biomarker of breast carcinoma; female reproductive organ cancer (multiple); idiopathic pulmonary fibrosis; pancreatic cancer (multiple); and renal cell carcinoma.
RGD Description
The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]
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
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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
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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

          SMAD2 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            SMAD2 role
            SMAD2 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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