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NPHS1  
    


    
      Official symbol:  NPHS1
      Full name:  NPHS1, nephrin
      Location:  19q13.12
      Also known as:  NPHN, CNF
      Entrez ID:  4868
      Ensembl ID:  ENSG00000161270
      Summary:  This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]

    

    
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  Tissue specific distribution
    
 
  
 
   

    
  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:  1396.37  (Percentile rank: 96.85%)
      PubTator score:  624.65  (Percentile rank: 94.66%)
      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 - High confidenceTargets located in the plasma membrane; Targets with GO cell component terms plasma membrane or secreted

    







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