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FLASH GENE
Symbol P2RX7 contributors: mct - updated : 18-11-2017
HGNC name purinergic receptor P2X, ligand-gated ion channel, 7
HGNC id 8537
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   LOH    
in chronic lymphocytic leukemia
Susceptibility
  • to bipolar disorder
  • to major depressive disorder
  • to extrapulmonary tuberculosis
  • to post-menopausal bone loss and vertebral fractures
  • Variant & Polymorphism SNP
  • C(1513)A prognostic marker in CLL
  • SNP (rs2230912), associated with bipolar disorder, was significantly associated with major depressive disorder
  • 1513C allele was strongly associated with extrapulmonary, but not pulmonary tuberculosis (this defect is associated with the reduction in the capacity of macrophages to kill M. tuberculosis)
  • association between variants that reduce P2RX7 function and increased rate of bone loss
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyacquired 
    inhibition of PX2R7 and PANX1 may be therapeutic in spinal cord inflammation
    psychiatry  
    drug target in affective disorder
    immunologyinflammatory 
    attractive therapeutic target for inflammatory diseases
    miscelleaneouspain 
    potential therapeutic applications of the P2X7 receptor antagonists in inflammation and pain
    diabete  
    might be potential targets for treatments of pancreatic fibrosis
    ANIMAL & CELL MODELS