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ITPR2  
    


    
      Official symbol:  ITPR2
      Full name:  inositol 1,4,5-trisphosphate receptor type 2
      Location:  12p11.23
      Also known as:  IP3R2, CFAP48
      Entrez ID:  3709
      Ensembl ID:  ENSG00000123104
      Summary:  The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015]

    

    
  Overall distribution
    
  Tissue specific distribution
    
 
  
 
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Gscore (Amp):  0.60  
Gscore (Del):  0.00  
 
Recurrently amplified in 1 cancer type(s)
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Mscore:  0.00  
 
   

    
  Overall
    
  Tissue specific
    
 
Total fusion occurrence:  16  (Driver)
 
Fusions detected in 8 cancer type(s)
 
 

    
  Overall
    
  Tissue specific
    
     
   

    
      Functional class:  Ion channel
      JensenLab PubMed score:  77.73  (Percentile rank: 68.83%)
      PubTator score:  43.96  (Percentile rank: 65.67%)
      Target development/druggability level:  TbioThese targets do not have known drug or small molecule activities that satisfy the activity thresholds detailed below AND satisfy one or more of the following criteria: 1) target is above the cutoff criteria for Tdark; 2) target is annotated with a Gene Ontology Molecular Function or Biological Process leaf term(s) with an Experimental Evidence code.
      Tractability (small molecule):  Discovery PrecedenceTargets with ligands; Targets with crystal structures with ligands
      Tractability (antibody):  Predicted Tractable - High confidenceTargets located in the plasma membrane; Targets with GO cell component terms plasma membrane or secreted

    







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