NPHS2

Nephrosis 2, idiopathic, steroid-resistant (podocin)
Identifiers
Symbols	NPHS2; PDCN; SRN1
External IDs	OMIM: 604766 MGI: 2157018 HomoloGene: 22826 GeneCards: NPHS2 Gene
Gene Ontology Molecular function • protein binding Cellular component • plasma membrane • integral to plasma membrane • membrane Biological process • excretion Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	7827	170484
Ensembl	ENSG00000116218	ENSMUSG00000026602
UniProt	Q9NP85	Q91X05
RefSeq (mRNA)	NM_014625.2	NM_130456.3
RefSeq (protein)	NP_055440.1	NP_569723.1
Location (UCSC)	Chr 1: 179.52 – 179.55 Mb	Chr 1: 158.24 – 158.26 Mb
PubMed search	[1]	[2]

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

References

1. ^ 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. doi:10.1093/hmg/4.11.2155. PMID 8589695. 
2. ^ 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. doi:10.1038/74166. PMID 10742096. 
3. ^ "Entrez Gene: NPHS2 Nephrosis 2, idiopathic, steroid-resistant (podocin)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7827. 
4. ^ ^{a b} Schwarz, K; Simons M, Reiser J, Saleem M A, Faul C, Kriz W, Shaw A S, Holzman L B, Mundel P (Dec. 2001). "Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin". J. Clin. Invest. (United States) 108 (11): 1621–9. doi:10.1172/JCI12849. ISSN 0021-9738. PMC 200981. PMID 11733557. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=200981. 

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. doi:10.1203/01.PDR.0000160446.01907.B1. PMID 15817495. 
• "Correction to "NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome"". Nature Genetics 25 (1): 125. 2000. doi:10.1038/75526. PMID 10802674. 
• Huber TB, Kottgen M, Schilling B, et al. (2001). "Interaction with podocin facilitates nephrin signaling". J. Biol. Chem. 276 (45): 41543–6. doi:10.1074/jbc.C100452200. PMID 11562357. 
• Caridi G, Bertelli R, Carrea A, et al. (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, et al. (2002). "Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin". J. Clin. Invest. 108 (11): 1621–9. doi:10.1172/JCI12849. PMC 200981. PMID 11733557. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=200981. 
• Karle SM, Uetz B, Ronner V, et al. (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, et al. (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. doi:10.1093/hmg/11.4.379. PMID 11854170. 
• Boute N, Roselli S, Gribouval O, et al. (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, et al. (2002). "Serum glomerular permeability activity in patients with podocin mutations (NPHS2) and steroid-resistant nephrotic syndrome". J. Am. Soc. Nephrol. 13 (7): 1946–52. doi:10.1097/01.ASN.0000016445.29513.AB. PMID 12089392. 
• Saleem MA, Ni L, Witherden I, et al. (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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1867300. 
• Sellin L, Huber TB, Gerke P, et al. (2003). "NEPH1 defines a novel family of podocin interacting proteins". FASEB J. 17 (1): 115–7. doi:10.1096/fj.02-0242fje. PMID 12424224. 
• Tsukaguchi H, Sudhakar A, Le TC, et al. (2003). "NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele". J. Clin. Invest. 110 (11): 1659–66. doi:10.1172/JCI16242. PMC 151634. PMID 12464671. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=151634. 
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Komatsuda A, Wakui H, Maki N, et al. (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. doi:10.1081/JDI-120017471. PMID 12617336. 
• Ohashi T, Uchida K, Uchida S, et al. (2004). "Intracellular mislocalization of mutant podocin and correction by chemical chaperones". Histochem. Cell Biol. 119 (3): 257–64. doi:10.1007/s00418-003-0511-x. PMID 12649741. 
• Maruyama K, Iijima K, Ikeda M, et al. (2004). "NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children". Pediatr. Nephrol. 18 (5): 412–6. doi:10.1007/s00467-003-1120-6. PMID 12687458. 
• Caridi G, Bertelli R, Di Duca M, et al. (2003). "Broadening the spectrum of diseases related to podocin mutations". J. Am. Soc. Nephrol. 14 (5): 1278–86. doi:10.1097/01.ASN.0000060578.79050.E0. PMID 12707396. 
• 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. doi:10.1007/s00467-003-1240-z. PMID 12961083.