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FLASH GENE
Symbol CAV2 contributors: mct/npt/shn - updated : 22-09-2011
HGNC name caveolin 2
HGNC id 1528
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   amplification    
with MET oncogene in gastric cancer
tumoral     --over  
in cell lines and in inflammatory breast cancer (Van den Eynden 2006)
Susceptibility
  • to primary open-angle glaucoma
  • to type 2 diabetes
  • subjects from Iceland mapped the first common genetic risk factor for POAG to a small region of the genome on chromosome 7q31 that contains the caveolin genes CAV2 (
  • Variant & Polymorphism SNP
  • rs4236601[A], associated with primary open-angle glaucoma
  • rs2270188 interacts with dietary fat to affect risk of type 2 diabetes
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS