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Symbol CDKN2B contributors: mct/npt/pgu - updated : 21-06-2017
HGNC name cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
HGNC id 1788
corresponding disease(s) MNST
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   deletion    
P15 deleted in T or B cell acute lymphoblastic leukemia,follicle center lymphoma (poor prognosis)
tumoral   deletion    
in osteosarcomas, Ewing sarcomas and in breast cancer
tumoral       loss of function
or deletion in ovarian granulosa cell tumors
tumoral   deletion    
by 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
constitutional       loss of function
may not only promote cardiovascular disease through the development of atherosclerosis but may also impair TGFB1 signaling and hypoxic neovessel maturation
tumoral     --low  
by hypermethylation may be a poor prognostic marker in childhood ALL
tumoral germinal mutation      
will have an impact on familial cancer screening and might prove to influence the management of disseminated disease
tumoral     --low  
by promoter methylation may be closely implicated in the pathogenesis of multiple myeloma (MM)
constitutional     --low  
and increased smooth muscle cell apoptosis may be one mechanism underlying the 9p21.3 association with aneurysmal disease
  • to myocardial infarction
  • to type 2 diabetes
  • to high-grade glioma susceptibility
  • Variant & Polymorphism SNP
  • increasing the risk of myocardial infarction
  • significant contribution of CDKN2A/B gene rs10811661 to type 2 diabetes
  • Candidate gene
    Therapy target