CDKN2A cyclin dependent kinase inhibitor 2A
Gene ID: 1029, updated on 27-Nov-2023Gene type: protein coding
Also known as: ARF; MLM; P14; P16; P19; CAI2; CMM2; INK4; MTS1; TP16; CDK4I; CDKN2; INK4A; MTS-1; P14ARF; P19ARF; P16INK4; P16INK4A; P16-INK4A
- See all available tests in GTR for this gene
- Go to complete Gene record for CDKN2A
- Go to Variation Viewer for CDKN2A variants
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. [provided by RefSeq, Sep 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A common variant on chromosome 9p21 affects the risk of myocardial infarction. GeneReviews: Not available | |
| A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. GeneReviews: Not available | |
| Chromosome 7p11.2 (EGFR) variation influences glioma risk. GeneReviews: Not available | |
| Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population. GeneReviews: Not available | |
| Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. GeneReviews: Not available | |
| Genome-wide association meta-analysis identifies new endometriosis risk loci. GeneReviews: Not available | |
| Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians. GeneReviews: Not available | |
| Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. GeneReviews: Not available | |
| Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21. GeneReviews: Not available | |
| Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm. GeneReviews: Not available | |
| Genome-wide association study identifies five new breast cancer susceptibility loci. GeneReviews: Not available | |
| Genome-wide association study identifies five susceptibility loci for glioma. GeneReviews: Not available | |
| Genome-wide association study identifies three loci associated with melanoma risk. GeneReviews: Not available | |
| Genome-wide association study identifies three new melanoma susceptibility loci. GeneReviews: Not available | |
| Genome-wide association study identifies three novel loci for type 2 diabetes. GeneReviews: Not available | |
| Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. GeneReviews: Not available | |
| Genome-wide association study of coronary and aortic calcification implicates risk loci for coronary artery disease and myocardial infarction. GeneReviews: Not available | |
| Genome-wide association study of coronary artery disease in the Japanese. GeneReviews: Not available | |
| Genome-wide association study of intracranial aneurysm identifies three new risk loci. GeneReviews: Not available | |
| Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas. GeneReviews: Not available | |
| Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. GeneReviews: Not available | |
| Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. GeneReviews: Not available | |
| Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies. GeneReviews: Not available | |
| Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. GeneReviews: Not available | |
| Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. GeneReviews: Not available | |
| Large-scale genotyping identifies 41 new loci associated with breast cancer risk. GeneReviews: Not available | |
| Melanoma and neural system tumor syndrome | See labs |
| Melanoma, cutaneous malignant, susceptibility to, 2 | See labs |
| Melanoma-pancreatic cancer syndrome | See labs |
| Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. GeneReviews: Not available | |
| New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available | |
| Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. GeneReviews: Not available | |
| Susceptibility loci for intracranial aneurysm in European and Japanese populations. GeneReviews: Not available | |
| Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. GeneReviews: Not available | |
| Two-marker association tests yield new disease associations for coronary artery disease and hypertension. GeneReviews: Not available | |
| Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2022-03-18) ClinGen Genome Curation PagePubMedTriplosensitivity No evidence available (Last evaluated 2022-03-18) ClinGen Genome Curation Page |
Genomic context
- Location:
- 9p21.3
- Sequence:
- Chromosome: 9; NC_000009.12 (21967752..21995324, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | GeneView ReportGo to Variation Viewer for CDKN2A variants |
| 1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- Catalogue of Somatic Mutations in Cancer (COSMIC)
- CDKN2a Database Project
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- LOVD - Cyclin-Dependent Kinase inhibitor 2A (CDKN2A)
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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