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Properties of human protein
Mass / length primary structure 42,201 Daltons / 383 amino acids (Isoform1)

34,421 Daltons / 315 amino acids (Isoform2)

Isoforms 2
Gene name NPHS2
External IDs
human House mouse
Entrez 7827 170484
Ensemble ENSG00000116218 ENSMUSG00000026602
UniProt Q9NP85 Q91X05
Refseq (mRNA) NM_001297575 NM_130456
Refseq (protein) NP_001284504 NP_569723
Gene locus Chr 1: 179.55 - 179.58 Mb Chr 1: 156.31 - 156.33 Mb
PubMed search 7827 170484

Podocin is a protein that is encoded by the NPHS2 gene . It plays a role in regulating glomerular permeability (permeability of the kidney) because it likely acts as a connecting protein between the plasma membrane and the cytoskeleton . In addition, it probably has a transmembrane domain and a C terminus that protrudes into the cytoplasm . These sections of the protein are largely homologous to the corresponding sections of stomatin , with which Podocin has the greatest homology.

Mutations in this gene lead to steroid-resistant nephrotic syndrome . Podocin was first discovered in 2000 in the course of research aimed at finding the causal gene for steroid-resistant nephrotic syndrome. It is only expressed in podocytes .

Individual evidence

  1. UniProt Q9NP85
  2. a b Podocin.  In: Online Mendelian Inheritance in Man . (English)
  3. NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) .