Biomarker: CDKN2A

Biomarker subtype: gene

Clinical application: diagnosis(MT-EC(containing endometrioid and serous differentiation))

Histology type: rare type

Country: USA

Region: Los Angeles

Sample type : tissue

Clinical method: Immunohistochemistry,Sample selection and RNA extraction,Gene expression analysis,

Expression pattern : differentially expressed

Description: Novel specific markers of MT-EC could be of diagnostic utility and could represent novel therapeutic targets in the future.

Expression figure legend: H&E stained sections of USC and EAC region within an MT-EC (Patient 5).

Expression figure link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4488511/figure/pone.0130909.g001/

Approved symbol: CDKN2A

Approved name: cyclin dependent kinase inhibitor 2A

Locus type: gene with protein product

HGNC ID: HGNC:1787

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1787

Symbol status: Approved

Previous symbols: CDKN2 MLM

Alias symbols: CDK4I p16 INK4a MTS1 CMM2 ARF p19 p14 INK4 p16INK4a p19Arf p14ARF P16-INK4A

OMIM: 600160

Omim link: https://www.omim.org/entry/600160

NCBI name: 1029

NCBI link: https://www.ncbi.nlm.nih.gov/gene/1029

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]

Expression: Low expression observed in reference dataset

NCBI gene expression https://www.ncbi.nlm.nih.gov/gene/1029#gene-expression

PDB ID: P42771

PDB link: https://www.ebi.ac.uk/pdbe/entry/search/index/?searchParams=%7B%22q_uniprot%22:%5B%7B%22value%22:%22(P42771)%22,%22condition1%22:%22AND%22,%22condition2%22:%22Contains%22%7D%5D,%22resultState%22:%7B%22tabIndex%22:0,%22paginationIndex%22:1,%22perPage%22:%2210%22,%22sortBy%22:%22Sort%20by%22%7D%7D

CC term ID: GO:0035985

CC term name: senescence-associated heterochromatin focus

Source description: REAC

Term ID: REAC:R-HSA-9646303|REAC:R-HSA-9646304|REAC:R-HSA-9645722|REAC:R-HSA-9630791|REAC:R-HSA-9632697|REAC:R-HSA-9630747|REAC:R-HSA-9675132|REAC:R-HSA-9630794|REAC:R-HSA-9630794|REAC:R-HSA-9632700|REAC:R-HSA-9632693

Term name: Evasion of Oncogene Induced Senescence Due to p14ARF Defects|Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects|Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4|Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4|Diseases of Cellular Senescence|Diseases of cellular response to stress|Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6|Evasion of Oncogene Induced Senescence Due to p16INK4A Defects|Evasion of Oncogene Induced Senescence Due to p16INK4A Defects|Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects