NPHS2

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]

^ ^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)".