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.

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. ^[1] Mutations in the podocin gene NPHS2 can cause nephrotic syndrome, such as focal segmental glomerulosclerosis (FSGS) or minimal change disease (MCD). ^[2] Symptoms may develop in the first few months of life (congenital nephrotic syndrome) or later in childhood. ^[3]

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. ^[4]

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. ^{[4] [5]}

References

1. Jarad G, Miner JH (May 2009). "Update on the glomerular filtration barrier". Current Opinion in Nephrology and Hypertension. 18 (3): 226–32. doi:10.1097/mnh.0b013e3283296044. PMC   2895306 . PMID   19374010.
2. Mollet G, Ratelade J, Boyer O, Muda AO, Morisset L, Lavin TA, Kitzis D, Dallman MJ, Bugeon L, Hubner N, Gubler MC, Antignac C, Esquivel EL (October 2009). "Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome". Journal of the American Society of Nephrology. 20 (10): 2181–9. doi:10.1681/ASN.2009040379. PMC   2754108 . PMID   19713307.
3. Avner ED, Harmon WE, Niaudet P, Yoshikawa N, Emma F, Goldstein SL (2016). Pediatric Nephrology. Springer. ISBN   9783662435960. OCLC   1050008865.
4. Tabassum A, Rajeshwari T, Soni N, Raju DS, Yadav M, Nayarisseri A, Jahan P (March 2014). "Structural characterization and mutational assessment of podocin - a novel drug target to nephrotic syndrome - an in silico approach". Interdisciplinary Sciences, Computational Life Sciences. 6 (1): 32–9. doi:10.1007/s12539-014-0190-4. PMID   24464702. S2CID   17163784.
5. Saleem MA, Ni L, Witherden I, Tryggvason K, Ruotsalainen V, Mundel P, Mathieson PW (October 2002). "Co-localization of nephrin, podocin, and the actin cytoskeleton: evidence for a role in podocyte foot process formation". Am J Pathol. 161 (4): 1459–66. doi:10.1016/S0002-9440(10)64421-5. PMC   1867300 . PMID   12368218.