Podocin

nephrosis 2, idiopathic, steroid-resistant (podocin)
Identifiers
Symbol	NPHS2
NCBI gene	7827
HGNC	13394
OMIM	604766
RefSeq	NM_014625
UniProt	Q9NP85
Other data
Locus	Chr. 1 q25-q31
Search for Structures Swiss-model Domains InterPro

Gene expression pattern of the NPHS2 gene.

Gene expression pattern of the NPHS2 gene.

Podocin is a protein component of the filtration slits of podocytes. Glomerular capillary endothelial cells, the glomerular basement membrane and the filtration slits function as the filtration barrier of the kidney glomerulus. Mutations in the podocin gene NPHS2 can cause nephrotic syndrome, such as focal segmental glomerulosclerosis (FSGS) or minimal change disease (MCD). Symptoms may develop in the first few months of life (congenital nephrotic syndrome) or later in childhood.

Structure

Podocin is a membrane protein of the band-7-stomatin family, consisting of 383 amino acids. It has a transmembrane domain forming a hairpin structure, with two cytoplasmic ends at the N- and C-terminus, the latter of which interacts with the cytosolic tail of nephrin, with CD2AP serving as an adaptor.

Function

Podocin is localized on the membranes of podocyte foot processes (pedicels) where it oligomerizes in lipid rafts together with nephrin to form the filtration slits.