NPHS2

NPHS2
식별자
에일리어스	NPHS2, PDCN, SRN1, NPHS2 포드신, 포드신, NPHS2 스토마틴 패밀리, 포드신
외부 ID	OMIM: 604766 MGI: 2157018 HomoloGene: 22826 GeneCard: NPHS2
유전자 위치(인간)
크르.	1번 염색체(인간)
끝.	179,575,952 bp
유전자 위치(마우스)
크르.	1번 염색체(마우스)
끝.	156,162,605 bp
RNA발현패턴
	상단 표시 위치:
	사구체; ; 후생 사구체; ; 신장; ; 신장세관; ; 정자; ; 신장수질; ; 십이지장; ; 생식 상피; ; 방광; ; 뇌하수체;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	GO:0001948 단백질 결합;
셀룰러 컴포넌트	세포외 엑소좀; 슬릿 다이어프램; 막보트; 혈장막; 막; 혈장막 세포질측 내인성분; 세포-세포 접합; 소포체; 혈장막의 적분 성분; 단백질 함유 복합체;
생물학적 과정	액틴세포골격재구성; 메타네프성 사구체상피세포발달; 배설물;
	출처:아미고 / QuickGO
맞춤법
	7827
	170484
	ENSG00000116218
	ENSMUSG000026602
	Q9NP85
	Q91X05
	NM_001297575; NM_014625
	NM_130456
	NP_001284504; NP_055440
	NP_569723
	위키데이터
인간 보기/편집	마우스 표시/편집

포도신은 사람에게서 NPHS2 ^[5]^[6]^[7]유전자에 의해 암호화되는 단백질이다.

상호 작용

NPHS2는 Nephrin^[8] 및 CD2와 상호작용하는 것으로 나타났다.AP.^[8]

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국소성 사구체 경화증

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG00000116218 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000026602 - 앙상블, 2017년 5월
^ "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.

추가 정보

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. 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. 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.
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.

인간 염색체 1번 유전자에 대한 이 기사는 뭉툭한 것이다.위키피디아를 확장함으로써 위키피디아를 도울 수 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG00000116218 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000026602 - 앙상블, 2017년 5월

[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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