Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton. Interacts with nephrin/NPHS1 and KIRREL1. Interacts directly with CD2AP. Interacts with DDN (By similarity). Almost exclusively expressed in the podocytes of fetal and mature kidney glomeruli. Glycosylated. The disease is caused by variants affecting the gene represented in this entry. Belongs to the band 7/mec-2 family. Variants Leu-20 and Gln-264 have been originally reported as disease-causing mutations in NPHS2 (PubMed:10742096, PubMed:20947785). In contrast, Gln-237 has been described as a variant of unknown pathological significance (PubMed:15253708). They have been reclassified as neutral variants (PubMed:24227627). Leiden Open Variation Database (LOVD)