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FLASH GENE
Symbol CD2AP contributors: shn/mct - updated : 13-09-2016
HGNC name CD2-associated protein
HGNC id 14258
ASSOCIATED DISORDERS
corresponding disease(s) FSGS3
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
in Congenital nephrotic syndrome of the Finnish type (CNF)
constitutional     --low  
in diabetic conditions in podocytes via PI3-K/Akt signaling
Susceptibility
  • to glomerulosclerosis and glomerular disease
  • to Alzheimer disease
  • toend-stage renal disease (ESRD) in patients with type 1 diabetes
  • Variant & Polymorphism SNP
  • strongly associated with Alzheimer disease
  • CD2AP gene variants may contribute to susceptibility to ESRD in patients with type 1 diabetes
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • CD2AP-deficient mice die at 6 to 7 weeks of age from renal failure. Knockout mice exhibited exhibited nephrotic syndrome and renal failure: defects in epithelial cell foot processes, mesangial cell hyperplasia and extracellular matrix deposition
  • Mice lacking CD2AP exhibit a congenital nephrotic syndrome characterized by extensive foot process effacement
  • Mice lacking CD2AP die at 6 weeks of age. Mice with CD2AP haploinsufficiency developed glomerular changes at 9 months and had increased susceptibility to glomerular injury by nephrotoxic antibodies or immune complexes