CDKN2A

CDKN2A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2A5E, 1A5E, 1BI7, 1DC2,%%s1A5E, 1BI7, 1DC2, 2A5E
Identifiers
Aliases	CDKN2A, CDK4I, CDKN2, CMM2, INK4, INK4A, MLM, MTS-1, MTS1, P14, P14ARF, P16, P16-INK4A, P16INK4, P16INK4A, P19, P19ARF, TP16, cyclin-dependent kinase inhibitor 2A, cyclin dependent kinase inhibitor 2A, Genes, p16, ARF.
External IDs	OMIM: 600160; MGI: 104738; HomoloGene: 55430; GeneCards: CDKN2A; OMA:CDKN2A - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9p21.3 Start 21,967,752 bp[1] End 21,995,301 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 C4|4 42.15 cM Start 89,192,708 bp[2] End 89,212,890 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in parotid gland pituitary gland testicle anterior pituitary subthalamic nucleus tongue ventral tegmental area mucosa of pharynx superior surface of tongue external globus pallidus Top expressed in yolk sac stroma of bone marrow morula embryo glossopharyngeal ganglion endothelial cell of lymphatic vessel lumbar subsegment of spinal cord calvaria greater petrosal nerve muscle of thigh More reference expression data BioGPS More reference expression data
Gene ontology Molecular function NF-kappaB binding protein binding cyclin-dependent protein serine/threonine kinase inhibitor activity protein kinase binding RNA binding DNA binding p53 binding transcription factor binding MDM2/MDM4 family protein binding ubiquitin-protein transferase inhibitor activity SUMO transferase activity disordered domain specific binding ubiquitin ligase inhibitor activity Cellular component cytoplasm cytosol senescence-associated heterochromatin focus nucleus nuclear body nucleoplasm nucleolus mitochondrion protein-containing complex Biological process positive regulation of smooth muscle cell apoptotic process negative regulation of cyclin-dependent protein serine/threonine kinase activity replicative senescence G1 phase negative regulation of cell-matrix adhesion cellular senescence negative regulation of cell growth positive regulation of cellular senescence positive regulation of macrophage apoptotic process cell cycle Ras protein signal transduction negative regulation of phosphorylation negative regulation of transcription, DNA-templated negative regulation of NF-kappaB transcription factor activity negative regulation of cell population proliferation G1/S transition of mitotic cell cycle negative regulation of G1/S transition of mitotic cell cycle apoptotic process regulation of G2/M transition of mitotic cell cycle regulation of transcription, DNA-templated regulation of protein stability negative regulation of immature T cell proliferation in thymus regulation of protein export from nucleus negative regulation of protein kinase activity negative regulation of proteolysis involved in cellular protein catabolic process protein K63-linked ubiquitination positive regulation of signal transduction by p53 class mediator somatic stem cell division protein stabilization protein polyubiquitination positive regulation of protein sumoylation transcription, DNA-templated positive regulation of transcription, DNA-templated autophagy of mitochondrion apoptotic mitochondrial changes regulation of protein targeting to mitochondrion protein destabilization negative regulation of ubiquitin-protein transferase activity positive regulation of apoptotic process rRNA processing negative regulation of ubiquitin-dependent protein catabolic process mitochondrial depolarization positive regulation of DNA damage response, signal transduction by p53 class mediator negative regulation of B cell proliferation activation of cysteine-type endopeptidase activity involved in apoptotic process regulation of apoptotic DNA fragmentation positive regulation of transcription by RNA polymerase II positive regulation of protein localization to nucleus protein sumoylation positive regulation of gene expression negative regulation of ubiquitin protein ligase activity amyloid fibril formation negative regulation of protein neddylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1029 12578 Ensembl ENSG00000147889 ENSMUSG00000044303 UniProt P42771 Q8N726 P51480 Q64364 RefSeq (mRNA) NM_000077 NM_001195132 NM_058195 NM_058196 NM_058197 NM_001363763 NM_001040654 NM_009877 RefSeq (protein) NP_000068 NP_001182061 NP_478102 NP_478104 NP_001350692 NP_478102.2 NP_001035744 NP_034007 NP_034007.1 Location (UCSC) Chr 9: 21.97 – 22 Mb Chr 4: 89.19 – 89.21 Mb PubMed search [3] [4]
Wikidata
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CDKN2A, also known as cyclin-dependent kinase inhibitor 2A, is a gene which in humans is located at chromosome 9, band p21.3.^[5] It is ubiquitously expressed in many tissues and cell types.^[6] The gene codes for two proteins, including the INK4 family member p16 (or p16INK4a) and p14arf.^[7] Both act as tumor suppressors by regulating the cell cycle. p16 inhibits cyclin dependent kinases 4 and 6 (CDK4 and CDK6) and thereby activates the retinoblastoma (Rb) family of proteins, which block traversal from G1 to S-phase. p14ARF (known as p19ARF in the mouse) activates the p53 tumor suppressor. Somatic mutations of CDKN2A are common in the majority of human cancers, with estimates that CDKN2A is the second most commonly inactivated gene in cancer after p53. Germline mutations of CDKN2A are associated with familial melanoma, glioblastoma and pancreatic cancer.^[8] The CDKN2A gene also contains one of 27 SNPs associated with increased risk of coronary artery disease.^[9]