podocin

{{Protein

| Name = nephrosis 2, idiopathic, steroid-resistant (podocin)

| caption =

| image =

| width =

| HGNCid = 13394

| Symbol = NPHS2

| AltSymbols =

| EntrezGene = 7827

| OMIM = 604766

| RefSeq = NM_014625

| UniProt = Q9NP85

| PDB =

| ECnumber =

| Chromosome = 1

| Arm = q

| Band = 25

| LocusSupplementaryData = -q31

}}

File:PBB_GE_NPHS2_220424_at_fs.png

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.{{cite journal | vauthors = Jarad G, Miner JH | title = Update on the glomerular filtration barrier | journal = Current Opinion in Nephrology and Hypertension | volume = 18 | issue = 3 | pages = 226–32 | date = May 2009 | pmid = 19374010 | pmc = 2895306 | doi = 10.1097/mnh.0b013e3283296044 }}

Mutations in the podocin gene NPHS2 can cause nephrotic syndrome, such as focal segmental glomerulosclerosis (FSGS) or minimal change disease (MCD).{{cite journal | vauthors = 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 | title = Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome | journal = Journal of the American Society of Nephrology | volume = 20 | issue = 10 | pages = 2181–9 | date = October 2009 | pmid = 19713307 | pmc = 2754108 | doi = 10.1681/ASN.2009040379 }} Symptoms may develop in the first few months of life (congenital nephrotic syndrome) or later in childhood.{{Cite book |title=Pediatric Nephrology| first1 = Ellis D | last1 = Avner | first2 = William E | last2 = Harmon | first3 = Patrick | last3 = Niaudet | first4 = Norishige | last4 = Yoshikawa | first5 = Francesco | last5 = Emma | first6 = Stuart L | last6 = Goldstein | name-list-style = vanc |date=2016 |publisher=Springer |isbn=9783662435960 |oclc=1050008865}}

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.

{{cite journal | vauthors = Tabassum A, Rajeshwari T, Soni N, Raju DS, Yadav M, Nayarisseri A, Jahan P | title = Structural characterization and mutational assessment of podocin - a novel drug target to nephrotic syndrome - an in silico approach | journal = Interdisciplinary Sciences, Computational Life Sciences | volume = 6 | issue = 1 | pages = 32–9 | date = March 2014 | pmid = 24464702 | doi = 10.1007/s12539-014-0190-4 | s2cid = 17163784 }}

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.{{cite journal |vauthors=Saleem MA, Ni L, Witherden I, Tryggvason K, Ruotsalainen V, Mundel P, Mathieson PW |title=Co-localization of nephrin, podocin, and the actin cytoskeleton: evidence for a role in podocyte foot process formation |journal=Am J Pathol |volume=161 |issue=4 |pages=1459–66 |date=October 2002 |pmid=12368218 |pmc=1867300 |doi=10.1016/S0002-9440(10)64421-5 |url=}}

References

Category:Proteins