CDKN2A
CDKN2A (Cyclin-dependent kinase inhibitor 2A) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Lung cancer, Bladder & urothelial cancer and 5 more.
Overview
Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein.
CIViC holds 59 clinical evidence items and 0 assertions across 27 variants, naming Palbociclib, Trametinib, Afatinib and Bevacizumab and others. Open Targets scores its association with cancer at 0.90 (direct and indirect evidence; datatypes genetic literature 0.61, affected pathway 0.90, literature 1.00, genetic association 0.90, somatic mutation 0.98, animal model 0.67). IntOGen calls it a driver in 70 cohorts (15 activating, 55 loss-of-function), covering Adenoid Cystic Carcinoma, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Cholangiocarcinoma, Colon Adenocarcinoma, Colorectal Adenocarcinoma and others. In OnCo, 1 product record names it (UroVysion Bladder Cancer Kit).
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · CDKN2A (Cyclin-dependent kinase inhibitor 2A) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Lung cancer, Bladder & urothelial cancer and 5 more.
- 1 · What it is
CDKN2A (Cyclin-dependent kinase inhibitor 2A) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Lung cancer, Bladder & urothelial cancer and 5 more.
- 2 · What goes wrong in cancer
Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein.
- 3 · How drugs use it
No product in this corpus aims at CDKN2A yet. Because the protein is lost rather than overactive, drugs either restore its function or exploit the weakness its loss leaves (synthetic lethality).
External identifiers
Sources: HGNC HGNC:1787 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt P42771 (protein name, function text, keywords and locations (REST API)); CIViC gene CDKN2A (59 evidence items, 0 assertions, 27 variants; diseases: Head And Neck Squamous Cell Carcinoma, Lung Non-small Cell Carcinoma, Pancreatic Cancer, Melanoma, Cholangiocarcinoma and 20 more (GraphQL API, CC0)); Open Targets ENSG00000147889 (association with cancer (MONDO_0004992) 0.90; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.66, gastric cancer 0.58, oesophageal cancer 0.69, hepatocellular carcinoma 0.61, urinary bladder cancer 0.70, ovarian cancer 0.65 (GraphQL API, CC0)); IntOGen CDKN2A (driver in 70 cohorts (Act 15, LoF 55); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Biology
Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein. Location: Cytoplasm; Nucleus (UniProt). Locus 9p21.3 (HGNC).
- Skin cancer: Open Targets association 0.80 with skin cancer (MONDO_0002898); IntOGen driver in 1 cohort (SKIN)
- Lung cancer: Open Targets association 0.75 with lung cancer (MONDO_0008903)
- Bladder & urothelial cancer: Open Targets association 0.70 with urinary bladder cancer (MONDO_0001187); CIViC evidence names this disease
- Head and neck squamous cell carcinoma: Open Targets association 0.70 with head and neck squamous cell carcinoma (MONDO_0010150); CIViC evidence names this disease
- Non-Hodgkin lymphoma: Open Targets association 0.69 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 1 cohort (MLYM)
- Oesophageal cancer: Open Targets association 0.69 with oesophageal cancer (MONDO_0007576); CIViC evidence names this disease
Notes
top- Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 18 therapies; IntOGen calls it an activating (Act) driver in 15 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 55 cohorts; CIViC holds 59 clinical evidence items on its variants. Evidence tier "clinical-evidence" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
- Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Oropharynx Cancer; Supratentorial Ependymoma, ZFTA Fusion-positive; Ganglioglioma; Low-Grade Glioma, NOS.
Latest papers
topQuery for this target: (TITLE:"CDKN2A" OR ABSTRACT:"CDKN2A" OR TITLE:"cyclin dependent kinase inhibitor 2A" OR ABSTRACT:"cyclin dependent kinase inhibitor 2A" OR TITLE:"Cyclin-dependent kinase inhibitor 2A" OR ABSTRACT:"Cyclin-dependent kinase inhibitor 2A" OR TITLE:"CDK4I" OR ABSTRACT:"CDK4I" OR TITLE:"p16" OR ABSTRACT:"p16" OR TITLE:"INK4a" OR ABSTRACT:"INK4a") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about CDKN2A, not a curated reading list.
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