Version: 8.0.0
Date: Tue Jan 28 2025
CDKN2B
Homo sapiensHGNC:1788
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

CDKN2B

Species
Homo sapiens
Symbol
CDKN2B
Name
cyclin dependent kinase inhibitor 2B
Synonyms
  • CDK inhibitory protein
  • CDK4B inhibitor
Biotype
protein coding gene
Automated Description
Enables cyclin-dependent protein serine/threonine kinase inhibitor activity and protein kinase binding activity. Involved in several processes, including cellular response to cell-matrix adhesion; positive regulation of transforming growth factor beta receptor signaling pathway; and regulation of phosphorylation. Located in cytoplasm and nucleus. Implicated in carcinoma (multiple); erythema infectiosum; hematologic cancer (multiple); open-angle glaucoma; and urinary bladder cancer. Biomarker of acute myeloid leukemia; carcinoma (multiple); cervix uteri carcinoma in situ; and reproductive organ cancer (multiple).
RGD Description
This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression. The expression of this gene was found to be dramatically induced by TGF beta, which suggested its role in the TGF beta induced growth inhibition. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
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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    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
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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
        Associated Phenotypes
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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

          CDKN2B molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
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            Genetic Interactions

            CDKN2B role
            CDKN2B genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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