| URN | urn:agi-llid:1029 |
|---|---|
| Connectivity | 580 |
| Name | CDKN2A |
| Description | cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) |
| Notes | 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, 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. [provided by RefSeq] |
| Pathway | Sialophorin -> CTNNB/MYC/TP53 signaling |
|---|---|
| Common Regulators | |
| PPARG Targets |
| Ariadne Ontology | Tumor suppressors |
|---|---|
| CDKN |
| GO Molecular Function | protein binding |
|---|---|
| DNA binding | |
| transcription factor activity | |
| protein kinase binding | |
| NF-kappaB binding | |
| kinase activity | |
| cyclin-dependent protein kinase inhibitor activity | |
| ubiquitin-protein ligase inhibitor activity |
| GO Cellular Component | cytoplasm |
|---|---|
| nucleus | |
| nucleoplasm | |
| nucleolus | |
| granular component |
| GO Biological Process | negative regulation of cell-matrix adhesion |
|---|---|
| negative regulation of cell cycle | |
| negative regulation of cell proliferation | |
| negative regulation of cell growth | |
| negative regulation of B cell proliferation | |
| negative regulation of immature T cell proliferation in the thymus | |
| negative regulation of cyclin-dependent protein kinase activity | |
| negative regulation of phosphorylation | |
| positive regulation of DNA damage response, signal transduction by p53 class mediator | |
| induction of apoptosis | |
| regulation of cyclin-dependent protein kinase activity | |
| cell cycle checkpoint | |
| regulation of G2-M transition of mitotic cell cycle | |
| activation of caspase activity | |
| regulation of nucleocytoplasmic transport | |
| regulation of transcription, DNA-dependent | |
| negative regulation of NF-kappaB transcription factor activity | |
| negative regulation of protein kinase activity | |
| regulation of gene expression | |
| regulation of protein stability | |
| negative regulation of ubiquitin-protein ligase activity | |
| cell aging | |
| cell cycle | |
| cell cycle arrest | |
| G1-S transition of mitotic cell cycle | |
| apoptosis | |
| apoptotic mitochondrial changes | |
| DNA fragmentation involved in apoptosis | |
| somatic stem cell division | |
| rRNA processing | |
| transcription | |
| rRNA transcription | |
| aging | |
| senescence | |
| epidermis development | |
| response to drug | |
| response to organic substance | |
| response to organic nitrogen | |
| response to organic cyclic substance |
| Group | Tumor suppressors |
|---|---|
| CDKN | |
| cytoplasm | |
| nucleus | |
| nucleoplasm | |
| nucleolus | |
| granular component | |
| protein binding | |
| DNA binding | |
| transcription factor activity | |
| protein kinase binding | |
| NF-kappaB binding | |
| kinase activity | |
| cyclin-dependent protein kinase inhibitor activity | |
| ubiquitin-protein ligase inhibitor activity | |
| negative regulation of cell-matrix adhesion | |
| negative regulation of cell cycle | |
| negative regulation of cell proliferation | |
| negative regulation of cell growth | |
| negative regulation of B cell proliferation | |
| negative regulation of immature T cell proliferation in the thymus | |
| negative regulation of cyclin-dependent protein kinase activity | |
| negative regulation of phosphorylation | |
| positive regulation of DNA damage response, signal transduction by p53 class mediator | |
| induction of apoptosis | |
| regulation of cyclin-dependent protein kinase activity | |
| cell cycle checkpoint | |
| regulation of G2-M transition of mitotic cell cycle | |
| activation of caspase activity | |
| regulation of nucleocytoplasmic transport | |
| regulation of transcription, DNA-dependent | |
| negative regulation of NF-kappaB transcription factor activity | |
| negative regulation of protein kinase activity | |
| regulation of gene expression | |
| regulation of protein stability | |
| negative regulation of ubiquitin-protein ligase activity | |
| cell aging | |
| cell cycle | |
| cell cycle arrest | |
| G1-S transition of mitotic cell cycle | |
| apoptosis | |
| apoptotic mitochondrial changes | |
| DNA fragmentation involved in apoptosis | |
| somatic stem cell division | |
| rRNA processing | |
| transcription | |
| rRNA transcription | |
| aging | |
| senescence | |
| epidermis development | |
| response to drug | |
| response to organic substance | |
| response to organic nitrogen | |
| response to organic cyclic substance |
| Hugo ID | 1787 |
|---|
| Human chromosome position | 9p21 |
|---|
| LocusLink ID | 1029 |
|---|---|
| 12578 | |
| 25163 |
| Alias | ARF |
|---|---|
| MLM | |
| p14 | |
| p16 | |
| p19 | |
| CMM2 | |
| INK4 | |
| MTS1 | |
| TP16 | |
| CDK4I | |
| CDKN2 | |
| INK4a | |
| p14ARF | |
| p16INK4 | |
| p16INK4a | |
| cyclin-dependent kinase inhibitor 2A | |
| OTTHUMP00000021147 | |
| OTTHUMP00000021148 | |
| CDK4 inhibitor p16-INK4 | |
| multiple tumor suppressor 1 | |
| cell cycle negative regulator beta | |
| cyclin-dependent kinase inhibitor p16 | |
| Pctr1 | |
| p19ARF | |
| p19<ARF> | |
| ARF-INK4a | |
| INK4a-ARF | |
| Ink4a/Arf | |
| p16(INK4a) | |
| RP23-166I8.5 | |
| OTTMUSP00000008143 | |
| mitochondrial smARF | |
| cyclin-dependent kinase inhibitor protein | |
| cyclin-dependent kinase inhibitor 2A (p16, inhibits CDK4) | |
| p16Cdkn2a | |
| cyclin dependent kinase inhibitor 2A | |
| cell cycle inhibitor | |
| cell cycle regulator | |
| cyclin-dependent kinase inhibitor 2a p19Arf | |
| cyclin-dependent kinase inhibitor 2a p16Ink4a | |
| Cyclin dependent kinase inhibitor 2A (p16, inhibits CDK4) | |
| p16 INKa | |
| MTS I | |
| P16-INK4A | |
| p16INK4a alternatively spliced form | |
| alternative reading frame p14 | |
| CDKN2A | |
| cyclin-dependent kinase inhibitor 2A isoform 1 | |
| cyclin-dependent kinase inhibitor 2A isoform 2 | |
| cyclin-dependent kinase inhibitor 2A isoform 3 | |
| cyclin-dependent kinase inhibitor p12, p16alternatively spliced form | |
| cyclin-dependent kinase inhibitor p12, p16INK4a alternatively spliced form | |
| p16, inhibits CDK4 | |
| CDN2_HUMAN | |
| cyclin-dependent kinase inhibitor p12, | |
| cyclin-dependent kinase inhibitor 2A isoform I | |
| multiple tumor suppressor I | |
| CDN2 | |
| Cyclin-dependent kinase 4 inhibitor A | |
| cyclin-dependent kinase inhibitor 2A isoform III | |
| Pctr I | |
| plasmacytoma resistance I | |
| plasmacytoma resistance 1 | |
| LOC497805 | |
| p19 ARF |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 600160 |
|---|---|
| 151623 | |
| 155755 | |
| 155601 | |
| 606719 |
| Swiss-Prot Accession | P42771 |
|---|---|
| Q8N726 | |
| Q208B5 | |
| Q2MJK0 | |
| Q5ZEY9 | |
| Q9UPB7 | |
| P51480 | |
| Q64364 | |
| Q78E71 | |
| Q9QWH4 | |
| Q9QWH5 | |
| Q9QWT5 | |
| Q9R0Z3 | |
| Q2I316 | |
| Q8CFC3 | |
| Q8QZZ9 |
| Unigene ID | Hs.512599 |
|---|---|
| Mm.4733 | |
| Rn.48717 |
| KEGG ID | hsa:1029 |
|---|---|
| mmu:12578 | |
| rno:25163 |
| Swiss-Prot ID | CD2A1_HUMAN |
|---|---|
| CD2A1_MOUSE | |
| CD2A1_RAT | |
| CD2A2_HUMAN | |
| CD2A2_MOUSE |
| Cell Localization | Cytoplasm |
|---|
| GO ID | 0003677 |
|---|---|
| 0051059 | |
| 0004861 | |
| 0005515 | |
| 0019901 | |
| 0055105 | |
| 0006309 | |
| 0000082 | |
| 0006919 | |
| 0006915 | |
| 0008637 | |
| 0007050 | |
| 0000075 | |
| 0006917 | |
| 0030889 | |
| 0032088 | |
| 0045786 | |
| 0030308 | |
| 0008285 | |
| 0001953 | |
| 0045736 | |
| 0033088 | |
| 0042326 | |
| 0006469 | |
| 0051444 | |
| 0006364 | |
| 0010389 | |
| 0031647 | |
| 0006355 | |
| 0010149 | |
| 0048103 | |
| 0006350 | |
| 0005737 | |
| 0005730 | |
| 0005654 | |
| 0005634 | |
| 0016301 | |
| 0003700 | |
| 0007568 | |
| 0007569 | |
| 0007049 | |
| 0008544 | |
| 0043517 | |
| 0009303 | |
| 0000079 | |
| 0010468 | |
| 0046822 | |
| 0001652 | |
| 0042493 | |
| 0014070 | |
| 0010243 | |
| 0010033 |
| IPI ID | IPI00651662 |
|---|---|
| IPI00030733 | |
| IPI00478390 | |
| IPI00001560 | |
| IPI00283736 | |
| IPI00122635 | |
| IPI00133446 | |
| IPI00206370 | |
| IPI00206876 |
| Mouse chromosome position | 4 42.7 cM |
|---|
| Homologene ID | 55430 |
|---|
| MGI ID | 104738 |
|---|---|
| 103111 |
| Rat chromosome position | 5q32 |
|---|
| RGD ID | 2323 |
|---|