cyclin-dependent kinase inhibitor 2A

Symbol

CDKN2A (may also be known as: None)

Organism

Human

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. [provided by RefSeq, Sep 2012]

Links to external resources

Changes associated with this gene

Identifier	Name	Type	Tissues	Organism	Gene	Data	Actions
DAA2696	Hypermethylation of CDKN2A is positively correlated with age	Molecular	blood	Human	CDKN2A	—

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GO Terms

GO ID	GO Term	GO Category
GO:0000075	cell cycle checkpoint	biological_process
GO:0000080	G1 phase of mitotic cell cycle	biological_process
GO:0000082	G1/S transition of mitotic cell cycle	biological_process
GO:0000209	protein polyubiquitination	biological_process
GO:0000278	mitotic cell cycle	biological_process
GO:0001953	negative regulation of cell-matrix adhesion	biological_process
GO:0006309	DNA fragmentation involved in apoptotic nuclear change	biological_process
GO:0006364	rRNA processing	biological_process
GO:0006469	negative regulation of protein kinase activity	biological_process
GO:0006917	induction of apoptosis	biological_process
GO:0006919	activation of caspase activity	biological_process
GO:0007049	cell cycle	biological_process
GO:0007050	cell cycle arrest	biological_process
GO:0007265	Ras protein signal transduction	biological_process
GO:0007569	cell aging	biological_process
GO:0008285	negative regulation of cell proliferation	biological_process
GO:0008544	epidermis development	biological_process
GO:0008637	apoptotic mitochondrial changes	biological_process
GO:0009303	rRNA transcription	biological_process
GO:0010389	regulation of G2/M transition of mitotic cell cycle	biological_process
GO:0030308	negative regulation of cell growth	biological_process
GO:0030889	negative regulation of B cell proliferation	biological_process
GO:0031647	regulation of protein stability	biological_process
GO:0031648	protein destabilization	biological_process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	biological_process
GO:0033088	negative regulation of immature T cell proliferation in thymus	biological_process
GO:0033235	positive regulation of protein sumoylation	biological_process
GO:0033600	negative regulation of mammary gland epithelial cell proliferation	biological_process
GO:0034393	positive regulation of smooth muscle cell apoptosis	biological_process
GO:0035019	somatic stem cell maintenance	biological_process
GO:0035986	senescence-associated heterochromatin focus assembly	biological_process
GO:0042326	negative regulation of phosphorylation	biological_process
GO:0043517	positive regulation of DNA damage response, signal transduction by p53 class mediator	biological_process
GO:0045736	negative regulation of cyclin-dependent protein kinase activity	biological_process
GO:0045892	negative regulation of transcription, DNA-dependent	biological_process
GO:0045893	positive regulation of transcription, DNA-dependent	biological_process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological_process
GO:0046822	regulation of nucleocytoplasmic transport	biological_process
GO:0046825	regulation of protein export from nucleus	biological_process
GO:0048103	somatic stem cell division	biological_process
GO:0050821	protein stabilization	biological_process
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity	biological_process
GO:0051444	negative regulation of ubiquitin-protein ligase activity	biological_process
GO:0060058	positive regulation of apoptosis involved in mammary gland involution	biological_process
GO:0070534	protein K63-linked ubiquitination	biological_process
GO:0071158	positive regulation of cell cycle arrest	biological_process
GO:0090398	cellular senescence	biological_process
GO:0090399	replicative senescence	biological_process
GO:2000111	positive regulation of macrophage apoptosis	biological_process
GO:2000774	positive regulation of cellular senescence	biological_process
GO:0001652	granular component	cellular_component
GO:0005634	nucleus	cellular_component
GO:0005654	nucleoplasm	cellular_component
GO:0005730	nucleolus	cellular_component
GO:0005737	cytoplasm	cellular_component
GO:0005829	cytosol	cellular_component
GO:0016604	nuclear body	cellular_component
GO:0035985	senescence-associated heterochromatin focus	cellular_component
GO:0043234	protein complex	cellular_component
GO:0002039	p53 binding	molecular_function
GO:0003677	DNA binding	molecular_function
GO:0004861	cyclin-dependent protein kinase inhibitor activity	molecular_function
GO:0005515	protein binding	molecular_function
GO:0008134	transcription factor binding	molecular_function
GO:0016301	kinase activity	molecular_function
GO:0019901	protein kinase binding	molecular_function
GO:0051059	NF-kappaB binding	molecular_function
GO:0055105	ubiquitin-protein ligase inhibitor activity	molecular_function
GO:0070215	MDM2 binding	molecular_function
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