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GJB2  
    


    
      Official symbol:  GJB2
      Full name:  gap junction protein beta 2
      Location:  13q12.11
      Also known as:  NSRD1, CX26, DFNB1, DFNA3
      Entrez ID:  2706
      Ensembl ID:  ENSG00000165474
      Summary:  This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]

    

    
  Overall distribution
    
  Tissue specific distribution
    
 
  
 
Expression restricted in 1 cancer type(s)
   

    
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  Tissue specific distribution
    
 
Gscore (Amp):  0.00  
Gscore (Del):  0.46  
 
Recurrently deleted in 3 cancer type(s)
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Mscore:  0.00  
 
   

    
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  Tissue specific
    
 
Total fusion occurrence:  0  
 
 
 

    
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      Functional class:  Not specified
      JensenLab PubMed score:  1514.73  (Percentile rank: 97.09%)
      PubTator score:  1611.10  (Percentile rank: 97.82%)
      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):  Predicted TractableTargets with a predicted Ro5 druggable domain (druggable genome); Targets with a drugEBIlity score equal or greater than 0
      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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