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FLASH GENE

Symbol

CD2AP

contributors: shn/mct - updated : 13-09-2016

HGNC name	CD2-associated protein
HGNC id	14258

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

FSGS3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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