NPHS2 Back

nephrosis 2, idiopathic, steroid-resistant (podocin)

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NCBI Description of NPHS2

This gene encodes the glomerular protein podocin which plays a role in the regulation of glomerular permeability, and acts as a linker between the plasma membrane and the cytoskeleton. Defects in this gene are the cause of autosomal recessive steroid-resistant nephrotic syndrome (SRN). SRN is characterized by onset between three months and five years, resistance to steroid therapy and rapid progression to end-stage renal disease. An alternative splice variant has been described but its full length sequence has not been determined.

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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


NPHS2 is highly significantly mutated in
NPHS2 is significantly mutated in
NPHS2 is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for NPHS2