podocin (NPHS2)

Function

• regulation of glomerular permeability
• links plasma membrane & cytoskeleton
• interacts with nephrin, KIRRE, CD2AP, DDN

Structure

• isoform 2 is glycosylated
• belongs to the band 7/mec-2 family

Compartment

• isoform 1: cell membrane
• isoform 2: endoplasmic reticulum

Alternative splicing

named isoforms=2

Expression

expressed in podocytes of renal glomeruli

Pathology

• defects in NPHS2 are the cause of autosomal recessive steroid-resistant nephrotic syndrome (nephrotic syndrome 2)

Polymorphism

• variants Leu-20, Gln-264 & Gln-237 have been reclassified as neutral polymorphisms [2-5]

Notes

distinguish from podocan

More general terms

• membrane protein

Additional terms

• podocan (PODN)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7827
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:7827
• OMIM: https://mirror.omim.org/entry/600995
• OMIM: https://mirror.omim.org/entry/604766
• UniProt: http://www.uniprot.org/uniprot/Q9NP85.html