Podocin
| Podocin | ||
|---|---|---|
| Properties of human protein | ||
| Mass / length primary structure | 42,201 Daltons / 383 amino acids (Isoform1)
34,421 Daltons / 315 amino acids (Isoform2) |
|
| Isoforms | 2 | |
| Identifier | ||
| Gene name | NPHS2 | |
| External IDs | ||
| Orthologue | ||
| 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 .