NPHS2

NPHS2，特发性，类固醇耐药性(足细胞)
NPHS2，特发性，类固醇耐药性(足细胞)
标识
代号	NPHS2; PDCN; SRN1
扩展标识	遗传学：604766 鼠基因：2157018 同源基因：22826 GeneCards: NPHS2 Gene
基因本体论描述
分子功能	· protein binding;
细胞成分	· endoplasmic reticulum; · plasma membrane; · integral component of plasma membrane; · cell-cell junction; · intrinsic component of the cytoplasmic side of the plasma membrane; · slit diaphragm; · protein complex; · membrane raft; · extracellular vesicular exosome;
生物过程	· excretion; · actin cytoskeleton reorganization; · metanephric glomerular visceral epithelial cell development;
	Sources: Amigo / QuickGO
RNA表达模式
	更多表达数据
直系同源体
物种	人类
Entrez	7827
Ensembl	ENSG00000116218
UniProt	Q9NP85
mRNA序列	NM_001297575
蛋白序列	NP_001284504
基因位置	Chr 1:; 179.52 – 179.55 Mb
PubMed查询	[1]
	查; 论; 编;

足蛋白(Podocin、NPHS2)是在人体内由NPHS2(Nephrosis 2)基因编码的蛋白质。^[1]^[2]^[3]

交互作用

NPHS2已经显示出与肾病蛋白(Nephrin)^[4]及CD2AP^[4]有所交互作用。

参见

局灶节段性肾小球硬化症

注释

^ 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. Mar 1996, 4 (11): 2155–8. PMID 8589695. doi:10.1093/hmg/4.11.2155.
^ 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. May 2000, 24 (4): 349–54. PMID 10742096. doi:10.1038/74166.
^ Entrez Gene: NPHS2 Nephrosis 2, idiopathic, steroid-resistant (podocin). （原始内容存档于2019-10-18）.
^ ^4.0 ^4.1 Schwarz, K; Simons M; Reiser J; Saleem M A; Faul C; Kriz W; Shaw A S; Holzman L B; Mundel P. Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J. Clin. Invest. (United States). Dec 2001, 108 (11): 1621–9. ISSN 0021-9738. PMC 200981  . PMID 11733557. doi:10.1172/JCI12849.

延伸阅读

Caridi G, Perfumo F, Ghiggeri GM. NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms. Pediatr. Res. 2005, 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. 2000, 25 (1): 125. PMID 10802674. doi:10.1038/75526.
Huber TB; Kottgen M; Schilling B; et al. Interaction with podocin facilitates nephrin signaling. J. Biol. Chem. 2001, 276 (45): 41543–6. PMID 11562357. doi:10.1074/jbc.C100452200.
Caridi G; Bertelli R; Carrea A; et al. Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. J. Am. Soc. Nephrol. 2002, 12 (12): 2742–6. PMID 11729243.
Schwarz K; Simons M; Reiser J; et al. Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J. Clin. Invest. 2002, 108 (11): 1621–9. PMC 200981  . PMID 11733557. doi:10.1172/JCI12849.
Karle SM; Uetz B; Ronner V; et al. Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J. Am. Soc. Nephrol. 2002, 13 (2): 388–93. PMID 11805166.
Koziell A; Grech V; Hussain S; et al. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum. Mol. Genet. 2002, 11 (4): 379–88. PMID 11854170. doi:10.1093/hmg/11.4.379.
Boute N; Roselli S; Gribouval O; et al. [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. 2002, 23 (1): 35–6. PMID 11908478.
Carraro M; Caridi G; Bruschi M; et al. Serum glomerular permeability activity in patients with podocin mutations (NPHS2) and steroid-resistant nephrotic syndrome. J. Am. Soc. Nephrol. 2002, 13 (7): 1946–52. PMID 12089392. doi:10.1097/01.ASN.0000016445.29513.AB.
Saleem MA; Ni L; Witherden I; et al. Co-Localization of Nephrin, Podocin, and the Actin Cytoskeleton : Evidence for a Role in Podocyte Foot Process Formation. Am. J. Pathol. 2002, 161 (4): 1459–66. PMC 1867300  . PMID 12368218. doi:10.1016/S0002-9440(10)64421-5.
Sellin L; Huber TB; Gerke P; et al. NEPH1 defines a novel family of podocin interacting proteins. FASEB J. 2003, 17 (1): 115–7. PMID 12424224. doi:10.1096/fj.02-0242fje.
Tsukaguchi H; Sudhakar A; Le TC; et al. NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. J. Clin. Invest. 2003, 110 (11): 1659–66. PMC 151634  . PMID 12464671. doi:10.1172/JCI16242.
Strausberg RL; Feingold EA; Grouse LH; et al. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc. Natl. Acad. Sci. U.S.A. 2003, 99 (26): 16899–903. PMC 139241  . PMID 12477932. doi:10.1073/pnas.242603899.
Komatsuda A; Wakui H; Maki N; et al. Analysis of mutations in alpha-actinin 4 and podocin genes of patients with chronic renal failure due to sporadic focal segmental glomerulosclerosis. Renal failure. 2003, 25 (1): 87–93. PMID 12617336. doi:10.1081/JDI-120017471.
Ohashi T; Uchida K; Uchida S; et al. Intracellular mislocalization of mutant podocin and correction by chemical chaperones. Histochem. Cell Biol. 2004, 119 (3): 257–64. PMID 12649741. doi:10.1007/s00418-003-0511-x.
Maruyama K; Iijima K; Ikeda M; et al. NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children. Pediatr. Nephrol. 2004, 18 (5): 412–6. PMID 12687458. doi:10.1007/s00467-003-1120-6.
Caridi G; Bertelli R; Di Duca M; et al. Broadening the spectrum of diseases related to podocin mutations. J. Am. Soc. Nephrol. 2003, 14 (5): 1278–86. PMID 12707396. doi:10.1097/01.ASN.0000060578.79050.E0.
Guan N, Ding J, Zhang J, Yang J. Expression of nephrin, podocin, alpha-actinin, and WT1 in children with nephrotic syndrome. Pediatr. Nephrol. 2004, 18 (11): 1122–7. PMID 12961083. doi:10.1007/s00467-003-1240-z.

[pmid8589695-1] 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. Mar 1996, 4 (11): 2155–8. PMID 8589695. doi:10.1093/hmg/4.11.2155.

[pmid10742096-2] 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. May 2000, 24 (4): 349–54. PMID 10742096. doi:10.1038/74166.

[3] Entrez Gene: NPHS2 Nephrosis 2, idiopathic, steroid-resistant (podocin). （原始内容存档于2019-10-18）.

[pmid11733557-4] 4.0 ^4.1 Schwarz, K; Simons M; Reiser J; Saleem M A; Faul C; Kriz W; Shaw A S; Holzman L B; Mundel P. Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J. Clin. Invest. (United States). Dec 2001, 108 (11): 1621–9. ISSN 0021-9738. PMC 200981  . PMID 11733557. doi:10.1172/JCI12849.

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