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FLASH GENE
Symbol BCL2 contributors: mct/shn - updated : 21-07-2016
HGNC name B-cell CLL/lymphoma 2
HGNC id 990
ASSOCIATED DISORDERS
corresponding disease(s) BCL2 , CLL2
related resource MITOP database
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
in uterus endometrial carcinoma and in small cell lung carcinoma with poor prognosis
tumoral   translocation    
t(14;18)(q32;q21) in follicular lymphoma
tumoral        
in oral squamous cell carcinoma with poor prognosis
tumoral     --other  
BCL6-mediated suppression of BCL2 can be altered in DLBCL (diffuse large B cell lymphoma ) by different mechanism), including chromosomal translocations of the BCL2 gene, somatic mutations in the BCL2 promoter region, and deregulated expression of PIAS2
tumoral     --over  
in pancreatic cancer confers resistance to the apoptotic effect of chemo- and radiotherapy
constitutional     --low  
in the autistic brain
Susceptibility
Variant & Polymorphism
Candidate gene
  • DNA methylation markers of Gastric cancer (GC), which may serve as useful markers that may identify a distinct subset of GC
  • combination modalities targeting the multiple oncogenic activities of BCL6 and the anti-apoptotic function of BCL2 may represent a rational approach for the treatment of a subset of DLBCL
    • Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularmyopathycongenital
    for therapy of MDC1A, congenital muscular dystrophy, merosin negative (ameliorating disease by inhibition of the apoptosis)
    neuromuscularlaterale amyotrophy sclerosis 
    specific target and active partner in mutant SOD1 mitochondrial toxicity suggesting new therapeutic strategies to inhibit the formation of the toxic mutant SOD1/BCL2 complex and to prevent mitochondrial damage in ALS1
    ANIMAL & CELL MODELS