Search by GESP name  
   

 

GNAS  
    


    
      Official symbol:  GNAS
      Full name:  GNAS complex locus
      Location:  20q13.32
      Also known as:  GNAS1, NESP55, SgVI, GNASXL, GPSA, SCG6, NESP
      Entrez ID:  2778
      Ensembl ID:  ENSG00000087460
      Summary:  This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]

    

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

    
  Overall distribution
    
  Tissue specific distribution
    
 
Gscore (Amp):  0.26  
Gscore (Del):  0.00  
 
Recurrently amplified in 1 cancer type(s)
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Mscore:  0.16  (Driver)
 
Recurrently mutated in 2 cancer type(s)
   

    
  Overall
    
  Tissue specific
    
 
Total fusion occurrence:  31  (Driver)
 
Fusions detected in 14 cancer type(s)
 
 

    
  Overall
    
  Tissue specific
    
     
   

    
      Functional class:  Not specified
      JensenLab PubMed score:  1389.74  (Percentile rank: 96.83%)
      PubTator score:  1344.65  (Percentile rank: 97.42%)
      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

    







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