Podocin

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NPHS2
Identifiers
AliasesNPHS2, PDCN, SRN1, NPHS2 podocin, podocin, NPHS2 stomatin family member, podocin
External IDsOMIM: 604766; MGI: 2157018; GeneCards: NPHS2
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

7827

170484

Ensembl

ENSG00000116218

ENSMUSG00000026602

UniProt

Q9NP85

Q91X05

RefSeq (mRNA)

NM_001297575
NM_014625

NM_130456

RefSeq (protein)

NP_001284504
NP_055440

NP_569723

Location (UCSC)Chr 1: 179.55 – 179.58 MbChr 1: 156.14 – 156.16 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Podocin is a protein that in humans is encoded by the gene NPHS2 (from "nephrosis 2").[5][6][7] It is a 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.[8] Mutations in the podocin gene NPHS2 can cause nephrotic syndrome, such as focal segmental glomerulosclerosis (FSGS) or minimal change disease (MCD).[9] Symptoms may develop in the first few months of life (congenital nephrotic syndrome) or later in childhood.[10]

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. [11]

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.[11][12]

Interactions

NPHS2 has been shown to interact with Nephrin[13] and CD2AP.[13]

References

  1. GRCh38: Ensembl release 89: ENSG00000116218 – Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000026602 – Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Fuchshuber A, Jean G, Gribouval O, Gubler MC, Broyer M, Beckmann JS, et al. (March 1996). "Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis". Human Molecular Genetics. 4 (11): 2155–2158. doi:10.1093/hmg/4.11.2155. PMID 8589695.
  6. Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, et al. (May 2000). "NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome". Nature Genetics. 24 (4): 349–354. doi:10.1038/74166. PMID 10742096. S2CID 20737871.
  7. "Entrez Gene: NPHS2 Nephrosis 2, idiopathic, steroid-resistant (podocin)".
  8. Jarad G, Miner JH (May 2009). "Update on the glomerular filtration barrier". Current Opinion in Nephrology and Hypertension. 18 (3): 226–232. doi:10.1097/mnh.0b013e3283296044. PMC 2895306. PMID 19374010.
  9. Mollet G, Ratelade J, Boyer O, Muda AO, Morisset L, Lavin TA, et al. (October 2009). "Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome". Journal of the American Society of Nephrology. 20 (10): 2181–2189. doi:10.1681/ASN.2009040379. PMC 2754108. PMID 19713307.
  10. Avner ED, Harmon WE, Niaudet P, Yoshikawa N, Emma F, Goldstein SL (2016). Pediatric Nephrology. Springer. ISBN 978-3-662-43596-0. OCLC 1050008865.
  11. Tabassum A, Rajeshwari T, Soni N, Raju DS, Yadav M, Nayarisseri A, et al. (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): 32–39. doi:10.1007/s12539-014-0190-4. PMID 24464702. S2CID 17163784.
  12. Saleem MA, Ni L, Witherden I, Tryggvason K, Ruotsalainen V, Mundel P, et al. (October 2002). "Co-localization of nephrin, podocin, and the actin cytoskeleton: evidence for a role in podocyte foot process formation". The American Journal of Pathology. 161 (4): 1459–1466. doi:10.1016/S0002-9440(10)64421-5. PMC 1867300. PMID 12368218.
  13. Schwarz K, Simons M, Reiser J, Saleem MA, Faul C, Kriz W, et al. (December 2001). "Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin". The Journal of Clinical Investigation. 108 (11): 1621–1629. doi:10.1172/JCI12849. PMC 200981. PMID 11733557.

Further reading