Search by GESP name  
   

 

GJB1  
    


    
      Official symbol:  GJB1
      Full name:  gap junction protein beta 1
      Location:  Xq13.1
      Also known as:  CMTX1, CMTX, CX32
      Entrez ID:  2705
      Ensembl ID:  ENSG00000169562
      Summary:  This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. 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 cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]

    

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

    
  Overall distribution
    
  Tissue specific distribution
    
 
Gscore (Amp):  0.00  
Gscore (Del):  0.00  
 
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Mscore:  0.00  
 
   

    
  Overall
    
  Tissue specific
    
 
Total fusion occurrence:  0  
 
 
 

    
  Overall
    
  Tissue specific
    
     
   

    
      Functional class:  Not specified
      JensenLab PubMed score:  861.61  (Percentile rank: 94.59%)
      PubTator score:  556.69  (Percentile rank: 93.98%)
      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):  N/A
      Tractability (antibody):  Predicted Tractable - Medium to low confidenceTargets with GO cell component terms plasma membrane or secreted with low or unknown confidence; Targets with predicted signal peptide and transmembrane domains; GO cell component - medium confidence; Human Protein Atlas - high confidence

    







Contact us | | Terms & Conditions.
Copyright © 2020 University of Pennsylvania. All Rights Reserved.