Version: 8.0.0
Date: Tue Jan 28 2025
MDM2
Homo sapiensHGNC:6973
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

MDM2

Species
Homo sapiens
Symbol
MDM2
Name
MDM2 proto-oncogene
Synonyms
  • ACTFS
  • double minute 2, human homolog of
Biotype
protein coding gene
Automated Description
Enables several functions, including disordered domain specific binding activity; p53 binding activity; and ubiquitin-like protein transferase activity. Involved in several processes, including amyloid fibril formation; negative regulation of signal transduction by p53 class mediator; and regulation of mitotic cell cycle. Located in cytoplasm; nuclear body; and nucleolus. Part of transcription repressor complex. Implicated in chronic myeloid leukemia; glioblastoma; hepatocellular carcinoma; pancreatic ductal carcinoma; and sarcoma. Biomarker of acute myeloid leukemia; biliary tract disease (multiple); ichthyosis; pancreatic ductal carcinoma; and urinary bladder cancer.
RGD Description
This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itself transcriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in a multitude of transcript variants, many of which may be expressed only in tumor cells. [provided by RefSeq, Jun 2013]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR46858
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
          Viewer Help
          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

          MDM2 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            MDM2 role
            MDM2 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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