| Name | cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) |
| Symbol | CDKN2A |
| Aliases | ARF; MLM; P16; p16; CMM2; INK4; MTS1; TP16; CDK4I; CDKN2; INK4A; p14ARF; p16INK4; CDK4 inhibitor p16-INK4; multiple tumor suppressor 1; cell cycle negative regulator beta; cyclin-dependent kinase inhibitor p16; cyclin-dependent kinase inhibitor p12, p16INK4a alternatively spliced form |
| Gene Product | - cyclin-dependent kinase inhibitor 2A, isoform 3
- alternative reading frame p14
- cyclin-dependent kinase inhibitor 2A, isoform 1
- cyclin-dependent kinase inhibitor 2A, isoform 2
|
| Category | - Gross deletion in Prostate cancer
- Methylation in Prostate cancer
- Mutation in Prostate cancer
|
| UniGene | Hs.1174 |
| OMIM | 600160 |
| Locus | 1029 |
| Summary | This gene generates several transcript variants which differ in their first exons and utilize alternate polyadenylation sites. Four alternatively spliced variants encoding distinct proteins have been reported, three 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 supressor 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. |
| Gene Ontology | |
| Expression | | EST (175 ESTs, 63 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| b cells (1/1) |  | 2/16734 |
| blood (2/27) | | 3/40686 |
| brain (4/204) | | 23/362011 |
| cervix (3/7) | | 10/28115 |
| colon (7/853) | | 16/165626 |
| eye (1/33) | | 1/93836 |
| germ cell (3/7) | | 10/57383 |
| intestine (1/4) | | 5/11528 |
| kidney (1/86) | | 1/132968 |
| lung (2/312) | | 6/245386 |
| nervous (1/475) | | 2/43438 |
| ovary (3/144) | | 9/81880 |
| pancreas (3/33) | | 9/117255 |
| placenta (3/342) | | 5/157762 |
| prostate (3/291) |  | 10/109871 |
| skin (3/31) | | 5/100815 |
| stomach (3/312) | | 6/129930 |
| testis (1/171) | | 1/117531 |
| uncharacterized tissue (14/1773) | | 29/713325 |
| uterus (4/212) | | 22/155110 |
|
| SAGE (6320964 tags, 130 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| brain (15/19) | | 55/1434173 |
| colon (5/8) | | 12/458833 |
| eye (1/6) | | 2/204718 |
| foreskin (1/2) | | 4/29277 |
| kidney (2/2) | | 10/106013 |
| mammary gland (8/19) | | 16/469989 |
| ovary (8/10) | | 77/786412 |
| pancreas (7/8) | | 27/443604 |
| prostate (11/13) | | 24/617748 |
| skin (2/7) | | 3/35283 |
| stomach (2/3) | | 12/202497 |
| uncharacterized tissue (14/22) | | 54/1158915 |
| vascular (3/3) | | 11/373502 |
|
|
| Evidence | Gross deletion in Prostate cancer
Methylation in Prostate cancer
Mutation in Prostate cancer
|
