Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

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

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.

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 +

Non-Small Cell Lung Carcinoma +

Oral Cavity Squamous Cell Carcinoma +

High Grade Cervical Intraepithelial Neoplasia +

Melanoma +

Cervical Squamous Cell Carcinoma +

Breast Carcinoma +

Colorectal Carcinoma +

Bladder Carcinoma +

Glioblastoma +

Nasopharyngeal Squamous Cell Carcinoma +

Non-Hodgkin Lymphoma +

Ovarian Carcinoma +

Anal Squamous Cell Carcinoma +

Head And Neck Carcinoma +

Lung Carcinoma +

Lymphoma +

Nasopharyngeal Carcinoma +

Pancreatic Carcinoma +

Tonsillar Squamous Cell Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Cervical Intraepithelial Neoplasia +

Esophageal Carcinoma +

Malignant Glioma +

Prostate Carcinoma +

Soft Tissue Sarcoma +

Squamous Cell Carcinoma Of Unknown Primary +

Urothelial Carcinoma +

Anal Intraepithelial Neoplasia +

Anaplastic Astrocytoma +

Cancer +

Cervical Adenocarcinoma +

Cervical Adenosquamous Carcinoma +

Esophageal Squamous Cell Carcinoma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Malignant Uterine Neoplasm +

Oral Cavity Carcinoma +

Oropharyngeal Undifferentiated Carcinoma +

Rectal Squamous Cell Carcinoma +

Sarcoma +

Vulvar Squamous Cell Carcinoma +

Vulvar/Vaginal Squamous Cell Carcinoma +

Acral Lentiginous Melanoma +

Adenoid Cystic Carcinoma +

Anal Canal Squamous Cell Carcinoma +

Appendix Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Bile Duct Carcinoma +

Breast Adenocarcinoma +

Bronchogenic Carcinoma +

Cervical Neuroendocrine Carcinoma +

Cholangiocarcinoma +

Chondrosarcoma +

Chordoma +

Clear Cell Renal Cell Carcinoma +

Dedifferentiated Chondrosarcoma +

Fallopian Tube Carcinoma +

Gallbladder Carcinoma +

Germ Cell Tumor +

High Grade Ovarian Serous Adenocarcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Hodgkin Lymphoma +

Laryngeal Small Cell Carcinoma +

Lung Papilloma +

Malignant Mesothelioma +

Malignant Pleural Mesothelioma +

Meningioma +

Merkel Cell Carcinoma +

Mucosal Melanoma +

Multiple Myeloma +

Nasal Cavity Squamous Cell Carcinoma +

Osteosarcoma +

Pancreatic Ductal Adenocarcinoma +

Paranasal Sinus Squamous Cell Carcinoma +

Primary Peritoneal Carcinoma +

Small Cell Lung Carcinoma +

Small Intestinal Carcinoma +

Squamous Cell Carcinoma Of The Penis +

Supraglottic Squamous Cell Carcinoma +

Tongue Squamous Cell Carcinoma +

Transitional Cell Carcinoma +

Vaginal Squamous Cell Carcinoma +

Vulvar High Grade Squamous Intraepithelial Lesion +

Vulvar Neoplasm +

Vulvar Squamous Intraepithelial Lesion +

Well-Differentiated Thyroid Gland Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. 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 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.