Official symbol | CDKN2A |
Gene id | 1029 |
Organism | Homo sapiens |
Official full symbol | cyclin dependent kinase inhibitor 2A |
Gene type | protein-coding |
Also known as | ARF, CDK4I, CDKN2, CMM2, INK4, INK4A, MLM, MTS-1, MTS1, P14, P14ARF, P16, P16-INK4A, P16INK4, P16INK4A, P19, P19ARF, TP16 |
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. |
Genomic regions | Chromosome 9 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
CDKN2A-214 | ENST00000579755.2 | 1052 | 132aa | Protein coding | CCDS6511 | Q8N726-1 | NM_058195.4 | TSL:1, GENCODE basic, MANE Plus Clinical v0.92, |
CDKN2A-206 | ENST00000494262.5 | 989 | 105aa | Protein coding | CCDS87644 | P42771-2 | - | TSL:3, GENCODE basic, |
CDKN2A-201 | ENST00000304494.10 | 978 | 156aa | Protein coding | CCDS6510 | P42771-1 | NM_000077.5 | TSL:1, GENCODE basic, APPRIS P4, MANE Select v0.92, |
CDKN2A-209 | ENST00000498628.6 | 926 | 105aa | Protein coding | CCDS87644 | P42771-2 | - | TSL:2, GENCODE basic, |
CDKN2A-208 | ENST00000498124.1 | 880 | 167aa | Protein coding | CCDS56565 | P42771-4 | - | TSL:1, GENCODE basic, APPRIS ALT2, |
CDKN2A-210 | ENST00000530628.2 | 748 | 132aa | Protein coding | CCDS6511 | Q8N726-1 | - | TSL:5, GENCODE basic, |
CDKN2A-212 | ENST00000578845.2 | 678 | 105aa | Protein coding | CCDS87644 | P42771-2 | - | TSL:2, GENCODE basic, |
CDKN2A-213 | ENST00000579122.1 | 666 | 138aa | Protein coding | - | J3QRG6 | - | TSL:3, GENCODE basic, |
CDKN2A-207 | ENST00000497750.1 | 565 | 104aa | Protein coding | - | K7ES20 | - | TSL:4, GENCODE basic, |
CDKN2A-205 | ENST00000479692.2 | 544 | 121aa | Protein coding | - | K7ENC6 | - | TSL:5, GENCODE basic, |
CDKN2A-203 | ENST00000380151.3 | 794 | 116aa | Nonsense mediated decay | - | P42771-3 | - | TSL:1, |
CDKN2A-204 | ENST00000470819.2 | 856 | No protein | Processed transcript | - | - | - | TSL:3, |
CDKN2A-202 | ENST00000380150.2 | 493 | No protein | Processed transcript | - | - | - | TSL:3, |
CDKN2A-211 | ENST00000577854.1 | 442 | No protein | Processed transcript | - | - | - | TSL:3, |
Target Gene | CDKN2A |
This KO Strategy | loading |
Red Cotton™ Notes | Gene CDKN2A had been KO in hela cell line. |
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