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References OMIM Gene GeneReviews HGMD HGNC
last update : 26-01-2009
Symbol FSGS2
Location 11q22.1
HGNC id 3963
Name focal segmental glomerulosclerosis 2
Corresponding gene TRPC6
Main clinical features
  • proteinuria, nephrotic syndrome with focal segmental glomerulosclerosis, leading to progressive renal failure, onset in the third or fourth decade of life
  • Genetic determination autosomal dominant
    Function/system disorder kidney and urinary tract
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown proline-to-glutamine substitution at position 112, occuring in a highly conserved region of the protein, enhancing TRPC6-mediated calcium signals in response to agonists such as angiotensin II
    Remark(s) mutations lead to impaired channel function that initiates a new pathogenic mechanism or decreased ability of the podocyte to adapt to normal physiological challengesthat account for disease development