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Symbol CDKN2A contributors: mct/ - updated : 28-02-2016
HGNC name cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)
HGNC id 1787
corresponding disease(s) MNST , CMM2 , FAMMMPC
related resource Cyclin-dependent kinase inhibitor A
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   deletion    
in osteosarcomas and Ewing sarcomas, and in cutaneous large cells lymphoma (marker of apparition and progression), homozygously deleted in any neuroblastomas and in bladder cancer
tumoral   LOH    
in esophageal squamous cell carcinoma (concomitant loss of RB or not) and in hepatocellular carcinoma
tumoral       loss of function
inactivated by hypermethylation in non small cell lung carcinoma of non-smoker, in melanoma and in pancreas carcinoma
tumoral       gain of function
activated by hypomethylation in breast cancer
tumoral       loss of function
loss of function or deletion in ovarian granulosa cell
tumoral   deletion    
-mutated or deleted in non in small cell lung carcinoma of smoker,in squamous cell carcinoma of the skin and esophagus, in vulval squamous neoplasia and in colorectal cancer
tumoral germinal mutation deletion    
in melanoma
tumoral   deletion    
with hypermethylation of CpG islands, in acute lymphoblastic leukemia (ALL)
tumoral   deletion    
minimal common deleted region removing CDKN2A exon 1 and CDKN2B exon 2 in diffuse large B-cell lymphomas
tumoral     --low  
by promoter methylation may be closely implicated in the pathogenesis of multiple myeloma (MM)
  • to multiple myeloma, familial uveal and cutaneous melanoma, breast cancer
  • to pancreatic cancer
  • to myocardial infarction
  • to acute lymphoblastic leukemia
  • to type 2 diabetes
  • Variant & Polymorphism SNP , other
  • germline mutation implicated in the susceptibility to multiple myeloma and in familial uveal
  • variant A148T predisposing to breast cancer and cutaneous melanoma
  • common variation (rs3731217, intron 1 of CDKN2A) influences acute lymphoblastic leukemia risk
  • increasing the risk of myocardial infarction
  • significant contribution of CDKN2A/B gene rs10811661 to type 2 diabetes
  • Candidate gene
  • for sensitive detection in plasma or serum of cancer (bladder, breast, colorectal, gastric, liver, lung) by DNA methylation markers
  • Marker
    Therapy target