CDKN2A (NM_000077) - cyclin dependent kinase inhibitor 2A

Cyclin-Dependent Kinase Inhibitor 2a Isoform P16ink4a

Mutations Visualisation

Protein summary

This is preferred isoform of CDKN2A protein. View all 4 isoforms
CDKN2A: cyclin-dependent kinase inhibitor 2A isoform p16INK4a
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].

Strand
-
Chromosome
9
Protein
156 residues
All mutations
144
PTM sites
5
CDS
21,968,227 - 21,974,826
Transcription
21,967,750 - 21,975,132
7.05% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & Uniprot.
RefSeq
Entrez
gene: 1029
Uniprot
Ensembl