NPHS2 explained

Podocin is a protein that in humans is encoded by the NPHS2 gene.^{[1] [2] [3]}

Interactions

NPHS2 has been shown to interact with Nephrin^[4] and CD2AP.^[4]

See also

• Focal segmental glomerulosclerosis

Further reading

• Caridi G, Perfumo F, Ghiggeri GM . NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms . Pediatr. Res. . 57 . 5 Pt 2 . 54R–61R . 2005 . 15817495 . 10.1203/01.PDR.0000160446.01907.B1 . free .
• Correction to "NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome" . Nature Genetics . 25 . 1 . 125 . 2000 . 10802674 . 10.1038/75526 . 40951671 . free .
• Huber TB, Kottgen M, Schilling B, Walz G, Benzing T . Interaction with podocin facilitates nephrin signaling . J. Biol. Chem. . 276 . 45 . 41543–6 . 2001 . 11562357 . 10.1074/jbc.C100452200 . free .
• Caridi G, Bertelli R, Carrea A, Di Duca M, Catarsi P, Artero M, Carraro M, Zennaro C, Candiano G, Musante L, Seri M, Ginevri F, Perfumo F, Ghiggeri GM . Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis . J. Am. Soc. Nephrol. . 12 . 12 . 2742–6 . 2002 . 10.1681/ASN.V12122742 . 11729243 . free .
• Schwarz K, Simons M, Reiser J, Saleem MA, Faul C, Kriz W, Shaw AS, Holzman LB, Mundel P . Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin . J. Clin. Invest. . 108 . 11 . 1621–9 . 2002 . 11733557 . 200981 . 10.1172/JCI12849 .
• Karle SM, Uetz B, Ronner V, Glaeser L, Hildebrandt F, Fuchshuber A . Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome . J. Am. Soc. Nephrol. . 13 . 2 . 388–93 . 2002 . 10.1681/ASN.V132388 . 11805166 . free .
• Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scambler P . Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration . Hum. Mol. Genet. . 11 . 4 . 379–88 . 2002 . 11854170 . 10.1093/hmg/11.4.379 . free .
• Boute N, Roselli S, Gribouval O, Niaudet P, Gubler MC, Antignac C . [Characterization of the NPH2 gene, coding for the glomerular protein podocin, implicated in a familial form of cortico-resistant nephrotic syndrome transmitted as an autosomal recessive] . Néphrologie . 23 . 1 . 35–6 . 2002 . 11908478 .
• Carraro M, Caridi G, Bruschi M, Artero M, Bertelli R, Zennaro C, Musante L, Candiano G, Perfumo F, Ghiggeri GM . Serum glomerular permeability activity in patients with podocin mutations (NPHS2) and steroid-resistant nephrotic syndrome . J. Am. Soc. Nephrol. . 13 . 7 . 1946–52 . 2002 . 12089392 . 10.1097/01.ASN.0000016445.29513.AB . free .
• Saleem MA, Ni L, Witherden I, Tryggvason K, Ruotsalainen V, Mundel P, Mathieson PW . 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 . 2002 . 12368218 . 1867300 . 10.1016/S0002-9440(10)64421-5 .
• Sellin L, Huber TB, Gerke P, Quack I, Pavenstädt H, Walz G . NEPH1 defines a novel family of podocin interacting proteins . FASEB J. . 17 . 1 . 115–7 . 2003 . 12424224 . 10.1096/fj.02-0242fje . free . 17732086 .
• Tsukaguchi H, Sudhakar A, Le TC, Nguyen T, Yao J, Schwimmer JA, Schachter AD, Poch E, Abreu PF, Appel GB, Pereira AB, Kalluri R, Pollak MR . NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele . J. Clin. Invest. . 110 . 11 . 1659–66 . 2003 . 12464671 . 151634 . 10.1172/JCI16242 .
• Komatsuda A, Wakui H, Maki N, Kigawa A, Goto H, Ohtani H, Hamai K, Oyama Y, Makoto H, Sawada K, Imai H . Analysis of mutations in alpha-actinin 4 and podocin genes of patients with chronic renal failure due to sporadic focal segmental glomerulosclerosis . Renal Failure . 25 . 1 . 87–93 . 2003 . 12617336 . 10.1081/JDI-120017471 . 22531807 .
• Ohashi T, Uchida K, Uchida S, Sasaki S, Nihei H . Intracellular mislocalization of mutant podocin and correction by chemical chaperones . Histochem. Cell Biol. . 119 . 3 . 257–64 . 2004 . 12649741 . 10.1007/s00418-003-0511-x . 24927819 .
• Maruyama K, Iijima K, Ikeda M, Kitamura A, Tsukaguchi H, Yoshiya K, Hoshii S, Wada N, Uemura O, Satomura K, Honda M, Yoshikawa N . NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children . Pediatr. Nephrol. . 18 . 5 . 412–6 . 2004 . 12687458 . 10.1007/s00467-003-1120-6 . 2093444 .
• Caridi G, Bertelli R, Di Duca M, Dagnino M, Emma F, Onetti Muda A, Scolari F, Miglietti N, Mazzucco G, Murer L, Carrea A, Massella L, Rizzoni G, Perfumo F, Ghiggeri GM . Broadening the spectrum of diseases related to podocin mutations . J. Am. Soc. Nephrol. . 14 . 5 . 1278–86 . 2003 . 12707396 . 10.1097/01.ASN.0000060578.79050.E0 . free .
• Guan N, Ding J, Zhang J, Yang J . Expression of nephrin, podocin, alpha-actinin, and WT1 in children with nephrotic syndrome . Pediatr. Nephrol. . 18 . 11 . 1122–7 . 2004 . 12961083 . 10.1007/s00467-003-1240-z . 39927513 .

Notes and References

1. Fuchshuber A, Jean G, Gribouval O, Gubler MC, Broyer M, Beckmann JS, Niaudet P, Antignac C . Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis . Hum Mol Genet . 4 . 11 . 2155–8 . Mar 1996 . 8589695 . 10.1093/hmg/4.11.2155 .
2. Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C . NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome . Nat Genet . 24 . 4 . 349–54 . May 2000 . 10742096 . 10.1038/74166 . 20737871 .
3. Web site: Entrez Gene: NPHS2 Nephrosis 2, idiopathic, steroid-resistant (podocin).
4. Schwarz K, Simons M, Reiser J, Saleem MA, Faul C, Kriz W, Shaw AS, Holzman LB, Mundel P . Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin . J. Clin. Invest. . 108 . 11 . 1621–9 . Dec 2001 . 11733557 . 200981 . 10.1172/JCI12849 .