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FLASH GENE
Symbol CDKN1B contributors: mct - updated : 13-07-2015
HGNC name cyclin-dependent kinase inhibitor 1B (p27, Kip1)
HGNC id 1785
ASSOCIATED DISORDERS
corresponding disease(s) MEN4
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
with CCND3 in agressive B cell lymphoma
tumoral     --low  
in the development and progression of oral squamous cell carcinoma and in thyroid, colon, breast, prostate and superficial bladder carcinoma
tumoral   deletion    
deleted in leukemia and other cancers with poor prognosis (pancreas adenocarcinoma, esophageal squamous cell carcinoma), degraded by proteasomes in gliomas
tumoral     --low  
(when inhibited by AKT1) in aggressive breast cancer
tumoral germinal mutation      
in multiple endocrine neoplasia syndrome
constitutional     --low  
in both acute and end-stage heart failure
Susceptibility
  • to advanced prostate carcinoma
  • to to the development of multiple endocrine tumors
  • to pituitary hyperplasia and tumorigenesis
  • to breast cancer
  • to Systemic lupus erythematosus (SLE)
  • Variant & Polymorphism other
  • genotype VV strongly associated with advanced prostate carcinoma
  • frequencies of CT genotype and T allele of CDKN1B were found to be higher in breast cancer patients than in controls
  • multiple independent SNPs increasing the risk of SLE
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    immunologyinfectious 
    modulation of CDKN1B could bolster vaccine-induced T-cell memory and protective immunity
    cardiovascularaquiredheart failure
    manipulation of CDKN1B protein levels could yield therapeutic benefits in the treatment of heart failure
    ANIMAL & CELL MODELS