Version: 8.0.0
Date: Tue Jan 28 2025
CDKN2A
Homo sapiensHGNC:1787
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

CDKN2A

Species
Homo sapiens
Symbol
CDKN2A
Name
cyclin dependent kinase inhibitor 2A
Synonyms
  • alternative reading frame
  • ARF
Biotype
protein coding gene
Automated Description
Enables several functions, including MDM2/MDM4 family protein binding activity; NF-kappaB binding activity; and enzyme inhibitor activity. Involved in several processes, including Ras protein signal transduction; regulation of macromolecule metabolic process; and regulation of protein localization. Acts upstream of or within negative regulation of cyclin-dependent protein serine/threonine kinase activity. Located in mitochondrion; nuclear lumen; and senescence-associated heterochromatin focus. Part of protein-containing complex. Implicated in several diseases, including breast cancer (multiple); carcinoma (multiple); hematologic cancer (multiple); melanoma (multiple); and pancreatic cancer (multiple). Biomarker of several diseases, including hepatobiliary system cancer (multiple); in situ carcinoma (multiple); leukemia (multiple); reproductive organ cancer (multiple); and urinary system cancer (multiple).
RGD Description
This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24201
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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      Transgenic Alleles

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

        Model name
        Experimental condition
        Associated Human Diseases
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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

          CDKN2A molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
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            Genetic Interactions

            CDKN2A role
            CDKN2A genetic perturbation
            Interactor gene
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            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
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