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CACNA1H  
    


    
      Official symbol:  CACNA1H
      Full name:  calcium voltage-gated channel subunit alpha1 H
      Location:  16p13.3
      Also known as:  Cav3.2
      Entrez ID:  8912
      Ensembl ID:  ENSG00000196557
      Summary:  This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008]

    

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

    
  Overall distribution
    
  Tissue specific distribution
    
 
Mscore:  0.00  
 
   

    
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  Tissue specific
    
 
Total fusion occurrence:  2  
 
Fusions detected in 1 cancer type(s)
 
 

    
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  Tissue specific
    
     
   

    
      Functional class:  Ion channel
      JensenLab PubMed score:  132.80  (Percentile rank: 76.51%)
      PubTator score:  127.86  (Percentile rank: 80.97%)
      Target development/druggability level:  TclinThese targets have activities in DrugCentral (ie. approved drugs) with known mechanism of action.
      Tractability (small molecule):  Clinical PrecedenceTargets with drugs in phase II or above; Pre-clinical targets
      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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