QuickView for CDKN2A (gene)

Gene Symbol:

CDKN2A Homo sapiens

Full name:

cyclin dependent kinase inhibitor 2A

Synonyms:

ARF, CDK4I, CDKN2, CMM2, INK4, INK4A, MLM, MTS-1, MTS1, P14, P14ARF, P16, P16-INK4A, P16INK4, P16INK4A, P19, P19ARF, TP16, cyclin-dependent kinase inhibitor 2A, CDK4 inhibitor p16-INK4, alternative reading frame, cell cycle negative regulator beta, cyclin-dependent kinase 4 inhibitor A, cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4), multiple tumor suppressor 1

Genomic Location:

Chr 9: 21957751-21984490

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 upst...

View Full 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.

View Less

Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Canis lupus familiaris ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

IRF1_01 ,  PU1_Q6 ,  YTATTTTNR_MEF2_02 ,  TGCACGA_MIR517A_MIR517C ,  ELF1_Q6

miRNA binding sites
(Source: miRecords):

hsa-miR-24 Targeted Genes

Cytogenetic Map:

9p21.3

search → result