NPHS2

位於1號人類染色體的基因

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]

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
RNA表达模式
更多表达数据
直系同源体
物种 人类 小鼠
Entrez 7827 170484
Ensembl ENSG00000116218 ENSMUSG00000026602
UniProt Q9NP85 Q91X05
mRNA序列 NM_001297575 NM_130456
蛋白序列 NP_001284504 NP_569723
基因位置 Chr 1:
179.52 – 179.55 Mb
Chr 1:
156.31 – 156.33 Mb
PubMed查询 [1] [2]

交互作用

编辑

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

参见

编辑

注释

编辑
  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. 
  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). 
  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. 

延伸阅读

编辑