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. [provided by RefSeq, Jul 2008]

Description

nephrosis 2, idiopathic, steroid-resistant (podocin)

Protein family

Membrane proteins predicted by MDM

Chromosome

1:q25.2 (179519674 - 179545087)

Ensembl ID

ENSG00000116218  (ver. 69.37)

Orthologs

Mouse Nphs2: ENSMUSG00000026602

Human splice variants
Mouse splice variants