Overview

Location [1]
9p21.3
Pathway
Cell cycle control
Protein [2]
Cyclin-dependent kinase inhibitor 2A
Synonyms [1]
P16INK4, MLM, P19, P14ARF, CDKN2, INK4A, P16, MTS-1, P16-INK4A, ARF, P19ARF, CDK4I, CMM2, MTS1, TP16, P16INK4A, P14, INK4

The Cyclin-dependent kinase inhibitor 2A (CDKN2A) gene encodes several protein isoforms that function as inhibitors of CDK4 and ARF. Missense mutations, nonsense mutations, silent mutations, in-frame deletions, frameshift deletions and insertions, and whole gene deletions are observed in cancer such as cancers of the genital tract, mesothelioma, ovarian cancer, skin cancer, and multiple other cancer types.

CDKN2A is altered in 10.61% of all cancers with non-small cell lung carcinoma, malignant glioma, melanoma, pancreatic exocrine neoplasm, and breast carcinoma having the greatest prevalence of alterations [3].

CDKN2A GENIE Cases - Top Diseases

The most common alterations in CDKN2A are CDKN2A Loss (8.04%), CDKN2A Mutation (6.10%), CDKN2A I145L (0.68%), CDKN2A R80* (0.55%), and CDKN2A R58* (0.39%) [3].

CDKN2A GENIE Cases - Top Alterations

Significance of CDKN2A in Diseases

Malignant Solid Tumor +

Lymphoma +

Glioblastoma +

Head And Neck Squamous Cell Carcinoma +

Melanoma +

Non-Hodgkin Lymphoma +

Breast Carcinoma +

Cervical Carcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Non-Small Cell Lung Carcinoma +

Glioma +

Meningioma +

Colorectal Carcinoma +

Multiple Myeloma +

Malignant Glioma +

Primary Central Nervous System Lymphoma +

Penile Carcinoma +

Acral Lentiginous Melanoma +

Pancreatic Carcinoma +

Anaplastic Astrocytoma +

Esophageal Carcinoma +

Bladder Carcinoma +

Astrocytoma +

Head And Neck Carcinoma +

Cholangiocarcinoma +

Sarcoma +

Ependymoma +

B-Cell Non-Hodgkin Lymphoma +

Cancer +

Gastric Carcinoma +

Small Cell Lung Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Ovarian Carcinoma +

Anal Squamous Cell Carcinoma +

Oligodendroglioma +

Cervical Squamous Cell Carcinoma +

Germ Cell Tumor +

Vaginal Squamous Cell Carcinoma +

Vulvar Squamous Cell Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.