GENE REFERENCE / HGNC:1787
CDKN2A
cyclin dependent kinase inhibitor 2A
What does this gene do?
The CDKN2A gene provides instructions for making several proteins. The most well-studied are the p16(INK4A) and the p14(ARF) proteins. Both function as tumor suppressors, which means they keep cells from growing and dividing too rapidly or in an uncontrolled way. Both proteins are also involved in stopping cell division in older cells (senescence).
The p16(INK4A) protein attaches (binds) to two other proteins called CDK4 and CDK6. These proteins help regulate the cell cycle, which is the cell's way of replicating itself in an organized, step-by-step fashion. CDK4 and CDK6 normally stimulate the cell to continue through the cycle and divide. However, binding of p16(INK4A) blocks CDK4's or CDK6's ability to stimulate cell cycle progression. In this way, p16(INK4A) controls cell division. Cells begin to produce p16(INK4A) when they are no longer able to undergo cell division.
The p14(ARF) protein protects a different protein called p53 from being broken down. The p53 protein is an important tumor suppressor that is essential for regulating cell division, senescence, and self-destruction (apoptosis). By protecting p53, p14(ARF) also helps prevent tumor formation. The p14(ARF) and p53 proteins are often made in cells that are unable to undergo cell division.
Related condition topics
MedlinePlus mentions this gene in the condition pages below. These links alone do not show that the gene causes a condition.
ClinGen reviews
ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.
| Condition | Inheritance | Evidence |
|---|---|---|
| melanoma-pancreatic cancer syndromeMONDO:0011713 · Evaluated 2019-08-14 | Autosomal dominant | DefinitiveHereditary Cancer Gene Curation Expert Panel |
ClinVar records
These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.
- Submitted alleles
- 1,745
- Submissions for variants in or overlapping this gene
- 4,186
- Submissions explicitly reporting this gene
- 4,073
- Alleles reported pathogenic / likely pathogenic
- 187
- VariationIDs with uncertain significance
- 743
- VariationIDs with conflicting classifications
- 185
The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.
NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗
YOUR DNA FILE
Can your DNA file tell you about CDKN2A?
From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 187 alleles in CDKN2A reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.
From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.
If a variant is not in your file, that does not mean you don’t have it.
What BioDecode checks
BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.
A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in CDKN2A.
BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.
Sources and dates
The source information on this page last changed on 2026-10-10.
HGNC Source details
Source release: Fri, 09 Oct 2026 13:40:45 GMT
Source record updated: 2023-08-25
SHA-256: e4cd9c6d7120051b80e5e61d2aeb98bd6a541ddd21f428a6eab922c11242e053
MedlinePlus Source details
Source release: Sat, 10 Oct 2026 05:16:07 GMT
Source publication: 2023-03-20
Source review: 2018-07
SHA-256: fdc8bd614310c12718379cef6569962e5d0e791cecabcc355b53a72816ac263a
ClinVar Source details
Source release: Sun, 04 Oct 2026 13:15:29 GMT
SHA-256: 126d9e5bded1d43c0380ac6684c86f9aab056d2ff2be93d743e408ed917ae558
ClinGen Source details
Source release: Sat, 10 Oct 2026 09:49:14 GMT
SHA-256: 5bbc9404c72cc21d80e36ea4c49380231755850af5c34064262adceb74881af6
About the library sources · Latest validated release · Record bad00094b218