NPHS2

From Wikipedia, the free encyclopedia

Nephrosis 2, idiopathic, steroid-resistant (podocin)

Identifiers

NPHS2; PDCN; SRN1

External IDs

OMIM: 604766 MGI: 2157018 HomoloGene: 22826

Gene ontology
Molecular Function:	• protein binding
Cellular Component:	• plasma membrane • integral to plasma membrane
Biological Process:	• excretion

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_014625 (mRNA)
NP_055440 (protein)

NM_130456 (mRNA)
NP_569723 (protein)

Location

Chr 1: 177.79 - 177.81 Mb

Chr 1: 158.15 - 158.16 Mb

Pubmed search

[1]

[2]

Nephrosis 2, idiopathic, steroid-resistant (podocin), also known as NPHS2, is a human gene.^[1]

[edit] References

^ Entrez Gene: NPHS2 Nephrosis 2, idiopathic, steroid-resistant (podocin).

[edit] 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.
Fuchshuber A, Jean G, Gribouval O, et al. (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.
Boute N, Gribouval O, Roselli S, et al. (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.
"Correction to "NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome"" 25 (1): 125. 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. PMID 11733557.
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. 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. 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. PMID 12368218.
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. PMID 12464671.
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. PMID 12477932.
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. 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. 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.