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Gene Summary for CDKN2A Gene
| Official Symbol |
CDKN2A |
Gene Type |
protein-coding |
| Full Name |
cyclin dependent kinase inhibitor 2A |
Entrez |
1029
|
| Ensembl ID |
ENSG00000147889 |
HGNC |
1787
|
| Aliases |
ARF, CDK4I, CDKN2, CMM2, INK4, INK4A, MLM, MTS-1, MTS1, P14, P14ARF, P16, P16-INK4A, P16INK4, P16INK4A, P19, P19ARF, TP16
|
Chromosome Location |
Chromosome 9, NC_000009.12 (21967752..21995324, complement)
|
| Expression |
Low expression observed in reference dataset
|
| 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, 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]
|
Paper for CDKN2A Gene
| PMID |
Author |
Year |
ID in Paper
|
Conclusion |
| 15818729 |
Xiu-Sheng He |
2005 |
p16 |
The loss protein expression of p16 and Rb genes is related to GC. The loss expression of P16 protein is related to the histopathologic subtypes and lymph node metastasis of GC. Expression of P16 and Rb proteins in GC is reversely correlated. The deletion but not mutation in exon 2 of p16 gene may be involved in GC. |
Experiment for CDKN2A Gene
| Sample Type |
Sample Number GC |
Sample Number nonGC |
Method |
Region |
Hpylori |
Normal vs. GC |
Early-stage vs. Advanced stage |
Biological Functions in GC Cells |
Result |
PMID |
| tissue |
122 |
80 |
S-P |
China |
No Reports |
Down |
- |
- |
The positive rates of P16 protein expression respectively were 96% (77/80) in normal gastric mucosa, 92% (45/50) in dysplastic gastric mucosa, 48% (58/122) in GC. The positive rates of P16 protein expression in GC were significantly lower than that in normal gastric mucosa and dysplastic gastric mucosa. The positive rate of P16 protein expression in mucoid carcinoma (10%, 1/10) was significantly lower than that in poorly differentiated carcinoma (51%, 21/41), undifferentiated carcinoma (58%, 15/26) and signet ring cell carcinoma (62%, 10/16) (P<0.05). The positive rates of P16 protein in 30 cases of paired primary and lymph node metastatic GC were 47% (14/30) and 17% (5/30) respectively, being significantly lower in the later than in the former. |
15818729 |
| tissue |
25 |
- |
PCR; PCR-SSCP |
China |
No Reports |
- |
- |
- |
There was no mutation in exon 2 of p16 gene in the 25 freshly resected primary GCs. But five cases in the 25 freshly resected primary GCs displayed deletion in exon 2 of p16 gene. |
15818729 |
Function for CDKN2A Gene
| Functional Type |
AUC |
Overall Survival |
Disease-free Survival |
Interaction for CDKN2A Gene
| Interaction Gene |
Method |
PMID |
|
