NPHS2

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

NPHS2
Identifiers
AliasesNPHS2, PDCN, SRN1, NPHS2 podocin, podocin, NPHS2 stomatin family member, podocin
External IDsOMIM: 604766 MGI: 2157018 HomoloGene: 22826 GeneCards: NPHS2
Orthologs
SpeciesHumanMouse
Entrez

7827

170484

Ensembl

ENSG00000116218

ENSMUSG00000026602

UniProt

Q9NP85

Q91X05

RefSeq (mRNA)

NM_001297575
NM_014625

NM_130456

RefSeq (protein)

NP_001284504
NP_055440

NP_569723

Location (UCSC)Chr 1: 179.55 – 179.58 MbChr 1: 156.14 – 156.16 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Interactions

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

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000116218 - Ensembl, May 2017
  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.
  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.
  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)".
  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.

Further reading


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