NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

By N. Boute, O. Gribouval, S. Roselli, F. Benessy, Hyunjoo Lee, A. Fuchshuber, K. Dahan, M. Gubler, P. Niaudet, C. Antignac. Nature Genetics, 2000

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Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. (2001, background): “Podocin expression is restricted to podocytes as shown by in situ RNA hybridization (14), but its subcellular distribution is unknown.”
TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function (2005, background): “2a ) showed that GFP-TRPC6 was expressed at the podocyte cell membrane and partially colocalized with endogenous nephrin, podocin and CD2A”
The spectrum of podocytopathies: a unifying view of glomerular diseases. (2007, background): “The major causes of congenital nephrotic syndrome of the Finnish type in man are mutations in the NPHS1 gene coding for the slit diaphragm protein nephrin and in the NPHS2 gene coding for the foot process membrane protein podocin.(42,43) These mutations result in grossly normal capillary loop develo”