NPHS2 📖 Wikipedia

NPHS2
Identifiers
Aliases	NPHS2, PDCN, SRN1, NPHS2 podocin, podocin, NPHS2 stomatin family member, podocin
External IDs	OMIM: 604766; MGI: 2157018; HomoloGene: 22826; GeneCards: NPHS2; OMA:NPHS2 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	179,575,952 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	156,155,605 bp
RNA expression pattern
	Top expressed in
	glomerulus; ; metanephric glomerulus; ; human kidney; ; testicle; ; kidney tubule; ; sperm; ; gonad; ; renal medulla; ; right testis; ; left testis;
	Top expressed in
	glomerulus; ; Bowman's capsule; ; right kidney; ; parietal layer of glomerular capsule; ; human kidney; ; morula; ; thymus; ; embryo; ; embryo; ; medullary collecting duct;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding;
Cellular component	extracellular exosome; slit diaphragm; membrane raft; plasma membrane; membrane; intrinsic component of the cytoplasmic side of the plasma membrane; cell-cell junction; endoplasmic reticulum; integral component of plasma membrane; protein-containing complex;
Biological process	actin cytoskeleton reorganization; metanephric glomerular visceral epithelial cell development; excretion;
	Sources:Amigo / QuickGO
Orthologs
	7827
	170484
	ENSG00000116218
	ENSMUSG00000026602
	Q9NP85
	Q91X05
	NM_001297575; NM_014625
	NM_130456
	NP_001284504; NP_055440
	NP_569723
	Wikidata
View/Edit Human	View/Edit Mouse

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

Interactions

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

References

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^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000116218 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026602 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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. S2CID 20737871.
^ "Entrez Gene: NPHS2 Nephrosis 2, idiopathic, steroid-resistant (podocin)".
^ ^a ^b 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. doi:10.1172/JCI12849. PMC 200981. PMID 11733557.

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. S2CID 40951671.
Huber TB, Kottgen M, Schilling B, Walz G, Benzing T (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, 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. doi:10.1681/ASN.V12122742. 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. doi:10.1172/JCI12849. PMC 200981. PMID 11733557.
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. doi:10.1681/ASN.V132388. 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. doi:10.1093/hmg/11.4.379. PMID 11854170.
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. doi:10.1097/01.ASN.0000016445.29513.AB. PMID 12089392.
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. doi:10.1016/S0002-9440(10)64421-5. PMC 1867300. PMID 12368218.
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. doi:10.1096/fj.02-0242fje. PMID 12424224. S2CID 17732086.
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. doi:10.1172/JCI16242. PMC 151634. PMID 12464671.
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. doi:10.1081/JDI-120017471. PMID 12617336. S2CID 22531807.
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. doi:10.1007/s00418-003-0511-x. PMID 12649741. S2CID 24927819.
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. doi:10.1007/s00467-003-1120-6. PMID 12687458. S2CID 2093444.
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. 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. S2CID 39927513.

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000116218 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000026602 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8589695-5] 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. doi:10.1093/hmg/4.11.2155. PMID 8589695.

[pmid10742096-6] 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. doi:10.1038/74166. PMID 10742096. S2CID 20737871.

[7] "Entrez Gene: NPHS2 Nephrosis 2, idiopathic, steroid-resistant (podocin)".

[pmid11733557-8] 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. doi:10.1172/JCI12849. PMC 200981. PMID 11733557.

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NPHS2 📖 Wikipedia

Contents

Interactions

See also

References

Further reading

📚 Artikel Terkait di Wikipedia

Focal segmental glomerulosclerosis

Podocin

Nephrin

KIRREL

List of human protein-coding genes 5

LMX1B

Congenital nephrotic syndrome

CD2AP