· 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
^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.
^ 4.04.1Schwarz, 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.
延伸閱讀编辑
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.
十一月 25, 2023
nphs2, 足蛋白, podocin, 是在人體內由, nephrosis, 基因編碼的蛋白質, 特發性, 類固醇耐藥性, 足細胞, 标识代号, pdcn, srn1扩展标识遗传学, 604766, 鼠基因, 2157018, 同源基因, 22826, genecards, gene基因本体论描述分子功能, protein, binding细胞成分, endoplasmic, reticulum, plasma, membrane, integral, component, plasma, membrane, c. 足蛋白 Podocin NPHS2 是在人體內由NPHS2 Nephrosis 2 基因編碼的蛋白質 1 2 3 NPHS2 特發性 類固醇耐藥性 足細胞 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 developmentSources Amigo QuickGORNA表达模式更多表达数据直系同源体物种人类小鼠Entrez7827170484EnsemblENSG00000116218ENSMUSG00000026602UniProtQ9NP85Q91X05mRNA序列NM 001297575NM 130456蛋白序列NP 001284504NP 569723基因位置Chr 1 179 52 179 55 MbChr 1 156 31 156 33 MbPubMed查询 1 2 查论编 目录 1 交互作用 2 參見 3 註釋 4 延伸閱讀交互作用 编辑NPHS2已經顯示出與腎病蛋白 Nephrin 4 及CD2AP 4 有所交互作用 參見 编辑局灶節段性腎小球硬化症註釋 编辑 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 nbsp PMID 11733557 doi 10 1172 JCI12849 延伸閱讀 编辑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 nbsp 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 Nephrologie 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 nbsp 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 nbsp 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 nbsp 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 取自 https zh wikipedia org w index php title NPHS2 amp oldid 79626894, 维基百科，wiki，书籍，书籍，图书馆，
