What is the official name of the CDKN2A gene?
The official name of this gene is “cyclin-dependent kinase inhibitor 2A.”
CDKN2A is the gene's official symbol. The CDKN2A gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the CDKN2A gene?
- From Entrez Gene
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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, Jul 2008]
- From UniProt (CD2A1_HUMAN):
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Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein.
- From UniProt (CD2A2_HUMAN):
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Capable of inducing cell cycle arrest in G1 and G2 phases. Acts as a tumor suppressor. Binds to MDM2 and blocks its nucleocytoplasmic shuttling by sequestering it in the nucleolus. This inhibits the oncogenic action of MDM2 by blocking MDM2-induced degradation of p53 and enhancing p53-dependent transactivation and apoptosis. Also induces G2 arrest and apoptosis in a p53-independent manner by preventing the activation of cyclin B1/CDC2 complexes. Binds to BCL6 and down-regulates BCL6-induced transcriptional repression. Binds to E2F1 and MYC and blocks their transcriptional activator activity but has no effect on MYC transcriptional repression. Binds to TOP1/TOPOI and stimulates its activity. This complex binds to rRNA gene promoters and may play a role in rRNA transcription and/or maturation. Interacts with NPM1/B23 and promotes its polyubiquitination and degradation, thus inhibiting rRNA processing. Interacts with COMMD1 and promotes its 'Lys63'-linked polyubiquitination. Interacts with UBE2I/UBC9 and enhances sumoylation of a number of its binding partners including MDM2 and E2F1. Binds to HUWE1 and represses its ubiquitin ligase activity. May play a role in controlling cell proliferation and apoptosis during mammary gland development.
How are changes in the CDKN2A gene related to health conditions?
- UniProt (CD2A1_HUMAN) provides the following information about the CDKN2A gene's known or predicted involvement in human disease.
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Note=The association between cutaneous and uveal melanomas in some families suggests that mutations in CDKN2A may account for a proportion of uveal melanomas. However, CDKN2A mutations are rarely found in uveal melanoma patients.
Defects in CDKN2A are the cause of cutaneous malignant melanoma type 2 (CMM2). Malignant melanoma is a malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites.
Defects in CDKN2A are the cause of familial atypical multiple mole melanoma-pancreatic carcinoma syndrome (FAMMMPC).
Defects in CDKN2A are the cause of melanoma-astrocytoma syndrome (MASTS). The melanoma-astrocytoma syndrome is characterized by a dual predisposition to melanoma and neural system tumors, commonly astrocytoma.
- Entrez Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the CDKN2A gene.
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- Li Fraumeni syndrome
- Melanoma and neural system tumor syndrome
- Melanoma, cutaneous malignant, 2
- Orolaryngeal cancer, multiple
- Pancreatic cancer/melanoma syndrome
- UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
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Where is the CDKN2A gene located?
Cytogenetic Location: 9p21
Molecular Location on chromosome 9: base pairs 21,967,750 to 21,994,489
The CDKN2A gene is located on the short (p) arm of chromosome 9 at position 21.
More precisely, the CDKN2A gene is located from base pair 21,967,750 to base pair 21,994,489 on chromosome 9.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CDKN2A?
You and your healthcare professional may find the following resources about CDKN2A helpful.
- Gene Tests - DNA tests ordered by healthcare professionals
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the CDKN2A gene or gene products?
- ARF
- CDK4I
- CDKN2
- CMM2
- INK4
- INK4A
- MLM
- MTS1
- MTS-1
- P14
- P14ARF
- P16
- P16INK4
- P16INK4A
- P16-INK4A
- P19
- P19ARF
- TP16
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding CDKN2A?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
healthcare professional.
See How can I find a genetics professional in my area? in the Handbook.
