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Description for Protein CDKN2A

cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)
64 total interacting proteins; 21 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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, MDM1, 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] (PubMed Links)
Domains and Motifs:
  • ANK: ankyrin repeats
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K06621
    KEGG - Pathway(s):
    hsa04110; hsa04115; hsa05200; hsa05212; hsa05214; hsa05218; hsa05219; hsa05220; hsa05223
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Cyclin-dependent kinase inhibitor 2A isoform 1; Cyclin-dependent kinase inhibitor 2A isoform 3; Cyclin dependent kinase inhibitor 2A; CDKN2; CDK4 inhibitor; Multiple tumor suppressor 1; MTS1; TP16; p16(INK4); p16(INK4A); p19(ARF); p14(ARF); Cyclin-dependent kinase inhibitor 2A isoform 2
    Approved Symbol:
    CDKN2A
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 4
    Human (de-) phosphorylation sites: 4; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Li-Fraumeni syndrome(Pd);
  • Melanoma and neural system tumor syndrome(Pd);
  • Melanoma, cutaneous malignant, 2(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02542 Entrez Gene ID: 1029 OMIM ID: 600160 Swissprot Accession: P42771; Q8N726;