LP19646-6
CDKN2A gene
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Descriptions
The CDKN2A gene (cyclin-dependent kinase inhibitor 2A) [HGNC Gene ID:1787] is located on chromosome 9p21. 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] [NCBI Gene ID:1029] Source: National Center for Biotechnology Information (NCBI) Gene
Mutations in the CDKN2A gene are associated with various cancers, including head and neck squamous cell carcinomas (HNSCC), familial atypical multiple mole melanoma (FAMMM) syndrome, breast cancer, lung cancer, and pancreatic cancer. CDKN2A gene mutations associated with HNSCC are acquired (somatic) and found only in tumor cells, which occur primarily in the lining of the mouth, nose, and throat. Most of these mutations result in reduced or non-functional p16(INK4a) protein.[MedlinePlus Gene: CDKN2A] CDKN2A mutations associated with FAMMM syndrome are inherited in an autosomal dominant fashion and show reduced penetrance and variable expressivity.[NCBI Books: NBK7030] Source: Regenstrief LOINC
Basic Part Properties
- Part Display Name
- CDKN2A gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- CDKN2A
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CDK2A 基因 Synonyms: CDK4 抑制剂; |
| et-EE | Estonian (Estonia) | CDKN2A geen |
| es-ES | Spanish (Spain) | Gen CDKN2A |
| it-IT | Italian (Italy) | CDKN2A, gene Synonyms: Gene CDKN2A |
| tr-TR | Turkish (Turkey) | CDKN2A geni |
| ru-RU | Russian (Russian Federation) | CDKN2A ген |
| nl-NL | Dutch (Netherlands) | CDKN2A-gen Synonyms: CDKN2A gen |
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