Gene Protein Transcript Blast result Transcript specific probe-cluster
Gene information for NPHS2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID7827
Official gene symbolNPHS2
Full namenephrosis 2, idiopathic, steroid-resistant (podocin)
Gene summaryThis 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]
LocationChromosome: 1   Locus: 
Gene position179545084 - 179519674  Map Viewer
OMIM ID604766