NPHS2

NPHS2
Identifiers
AliasesNPHS2, PDCN, SRN1, NPHS2 podocin, podocin
External IDsMGI: 2157018 HomoloGene: 22826 GeneCards: NPHS2
Gene location (Human)
Chr.Chromosome 1 (human)[1]
BandNo data availableStart179,550,539 bp[1]
End179,575,952 bp[1]
RNA expression pattern
More reference expression data
Orthologs
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: 156.31 – 156.33 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Podocin is a protein that in humans is encoded by the NPHS2 gene.[5][6][7]

Interactions

NPHS2 has been shown to interact with Nephrin[8] and CD2AP.[8]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000116218 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026602 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ Fuchshuber A, Jean G, Gribouval O, Gubler MC, Broyer M, Beckmann JS, Niaudet P, Antignac C (Mar 1996). "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. PMID 8589695. doi:10.1093/hmg/4.11.2155.
  6. ↑ Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C (May 2000). "NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome". Nat Genet. 24 (4): 349–54. PMID 10742096. doi:10.1038/74166.
  7. ↑ "Entrez Gene: NPHS2 Nephrosis 2, idiopathic, steroid-resistant (podocin)".
  8. 1 2 Schwarz K, Simons M, Reiser J, Saleem MA, Faul C, Kriz W, Shaw AS, Holzman LB, Mundel P (Dec 2001). "Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin". J. Clin. Invest. 108 (11): 1621–9. PMC 200981 Freely accessible. PMID 11733557. doi:10.1172/JCI12849.

Further reading

  • Caridi G, Perfumo F, Ghiggeri GM (2005). "NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms". Pediatr. Res. 57 (5 Pt 2): 54R–61R. PMID 15817495. doi:10.1203/01.PDR.0000160446.01907.B1. 
  • "Correction to "NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome"". Nature Genetics. 25 (1): 125. 2000. PMID 10802674. doi:10.1038/75526. 
  • Huber TB, Kottgen M, Schilling B, Walz G, Benzing T (2001). "Interaction with podocin facilitates nephrin signaling". J. Biol. Chem. 276 (45): 41543–6. PMID 11562357. doi:10.1074/jbc.C100452200. 
  • 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 (2002). "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. PMID 11729243. 
  • Schwarz K, Simons M, Reiser J, Saleem MA, Faul C, Kriz W, Shaw AS, Holzman LB, Mundel P (2002). "Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin". J. Clin. Invest. 108 (11): 1621–9. PMC 200981 Freely accessible. PMID 11733557. doi:10.1172/JCI12849. 
  • Karle SM, Uetz B, Ronner V, Glaeser L, Hildebrandt F, Fuchshuber A (2002). "Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome". J. Am. Soc. Nephrol. 13 (2): 388–93. PMID 11805166. 
  • Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scambler P (2002). "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. PMID 11854170. doi:10.1093/hmg/11.4.379. 
  • Boute N, Roselli S, Gribouval O, Niaudet P, Gubler MC, Antignac C (2002). "[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. PMID 11908478. 
  • Carraro M, Caridi G, Bruschi M, Artero M, Bertelli R, Zennaro C, Musante L, Candiano G, Perfumo F, Ghiggeri GM (2002). "Serum glomerular permeability activity in patients with podocin mutations (NPHS2) and steroid-resistant nephrotic syndrome". J. Am. Soc. Nephrol. 13 (7): 1946–52. PMID 12089392. doi:10.1097/01.ASN.0000016445.29513.AB. 
  • Saleem MA, Ni L, Witherden I, Tryggvason K, Ruotsalainen V, Mundel P, Mathieson PW (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. PMC 1867300 Freely accessible. PMID 12368218. doi:10.1016/S0002-9440(10)64421-5. 
  • Sellin L, Huber TB, Gerke P, Quack I, Pavenstädt H, Walz G (2003). "NEPH1 defines a novel family of podocin interacting proteins". FASEB J. 17 (1): 115–7. PMID 12424224. doi:10.1096/fj.02-0242fje. 
  • 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 (2003). "NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele". J. Clin. Invest. 110 (11): 1659–66. PMC 151634 Freely accessible. PMID 12464671. doi: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 (2003). "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. PMID 12617336. doi:10.1081/JDI-120017471. 
  • Ohashi T, Uchida K, Uchida S, Sasaki S, Nihei H (2004). "Intracellular mislocalization of mutant podocin and correction by chemical chaperones". Histochem. Cell Biol. 119 (3): 257–64. PMID 12649741. doi:10.1007/s00418-003-0511-x. 
  • Maruyama K, Iijima K, Ikeda M, Kitamura A, Tsukaguchi H, Yoshiya K, Hoshii S, Wada N, Uemura O, Satomura K, Honda M, Yoshikawa N (2004). "NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children". Pediatr. Nephrol. 18 (5): 412–6. PMID 12687458. doi:10.1007/s00467-003-1120-6. 
  • 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 (2003). "Broadening the spectrum of diseases related to podocin mutations". J. Am. Soc. Nephrol. 14 (5): 1278–86. PMID 12707396. doi:10.1097/01.ASN.0000060578.79050.E0. 
  • Guan N, Ding J, Zhang J, Yang J (2004). "Expression of nephrin, podocin, alpha-actinin, and WT1 in children with nephrotic syndrome". Pediatr. Nephrol. 18 (11): 1122–7. PMID 12961083. doi:10.1007/s00467-003-1240-z. 


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