Associated Genetic Biomarkers
Associated Diseases
Associated Pathways


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

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 10.19% of all cancers with lung adenocarcinoma, pancreatic adenocarcinoma, conventional glioblastoma multiforme, cutaneous melanoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

CDKN2A GENIE Cases - Top Diseases

The most common alterations in CDKN2A are CDKN2A Loss (8.05%), CDKN2A Mutation (3.10%), CDKN2A Nonsense (1.31%), CDKN2A R80* (0.43%), and CDKN2A R58* (0.31%) [3].

CDKN2A GENIE Cases - Top Alterations

Significance of CDKN2A in Diseases

Oropharyngeal Squamous Cell Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Malignant Solid Tumor +

Cervical Carcinoma +

Oropharyngeal Carcinoma +

Anal Carcinoma +

Hypopharyngeal Squamous Cell Carcinoma +

Penile Carcinoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

Head And Neck Squamous Cell Carcinoma Of Unknown Primary +

Laryngeal Squamous Cell Carcinoma +

Oral Cavity Squamous Cell Carcinoma +

Non-Small Cell Lung Carcinoma +

Melanoma +

High Grade Cervical Intraepithelial Neoplasia +

Cervical Squamous Cell Carcinoma +

Breast Carcinoma +

Colorectal Carcinoma +

Glioblastoma +

Bladder Carcinoma +

Non-Hodgkin Lymphoma +

Ovarian Carcinoma +

Nasopharyngeal Squamous Cell Carcinoma +

Nasopharyngeal Carcinoma +

Lymphoma +

Lung Carcinoma +

Head And Neck Carcinoma +

Anal Squamous Cell Carcinoma +

Tonsillar Squamous Cell Carcinoma +

Malignant Glioma +

Urothelial Carcinoma +

Soft Tissue Sarcoma +

Pancreatic Carcinoma +

Squamous Cell Carcinoma Of Unknown Primary +

Esophageal Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Prostate Carcinoma +

Cervical Intraepithelial Neoplasia +

Esophageal Squamous Cell Carcinoma +

Anaplastic Astrocytoma +

Vulvar/Vaginal Squamous Cell Carcinoma +

Oral Cavity Carcinoma +

Sarcoma +

Cancer +

Cervical Adenocarcinoma +

Gastric Carcinoma +

Gastric Adenocarcinoma +

Cervical Adenosquamous Carcinoma +

Malignant Uterine Neoplasm +

Anal Intraepithelial Neoplasia +

Oropharyngeal Undifferentiated Carcinoma +

Rectal Squamous Cell Carcinoma +

Vulvar Squamous Cell Carcinoma +

Chordoma +

Malignant Mesothelioma +

Malignant Pleural Mesothelioma +

Squamous Cell Carcinoma Of The Penis +

Dedifferentiated Chondrosarcoma +

Acral Lentiginous Melanoma +

Transitional Cell Carcinoma +

Pancreatic Ductal Adenocarcinoma +

Osteosarcoma +

Mucosal Melanoma +

Gallbladder Carcinoma +

Chondrosarcoma +

Bile Duct Carcinoma +

Cholangiocarcinoma +

B-Cell Non-Hodgkin Lymphoma +

Cervical Neuroendocrine Carcinoma +

Small Intestinal Carcinoma +

Meningioma +

Histiocytic And Dendritic Cell Neoplasm +

Merkel Cell Carcinoma +

Adenoid Cystic Carcinoma +

Clear Cell Renal Cell Carcinoma +

Breast Adenocarcinoma +

Well-Differentiated Thyroid Gland Carcinoma +

Small Cell Lung Carcinoma +

Fallopian Tube Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Hodgkin Lymphoma +

Germ Cell Tumor +

Appendix Carcinoma +

Multiple Myeloma +

Anal Canal Squamous Cell Carcinoma +

Bronchogenic Carcinoma +

Laryngeal Small Cell Carcinoma +

Lung Papilloma +

Nasal Cavity Squamous Cell Carcinoma +

Paranasal Sinus Squamous Cell Carcinoma +

Primary Peritoneal Carcinoma +

Supraglottic Squamous Cell Carcinoma +

Tongue Squamous Cell Carcinoma +

Vaginal Squamous Cell Carcinoma +

Vulvar High Grade Squamous Intraepithelial Lesion +

Vulvar Neoplasm +

Vulvar Squamous Intraepithelial Lesion +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015.

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 8. 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.