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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

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)
Aliases,PDCN,SRN1,
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: 1q25.2
Gene position179545084 - 179519674  Map Viewer
Gene orientationminus
Gene size25411 bp
Gene sequence
OMIM ID604766