Entity Details

Primary name NPHS2
Entity type gene
Source Source Link

Details

PrimaryID7827
RefseqGeneNG_007535
SymbolNPHS2
NameNPHS2 stomatin family member, podocin
Chromosome1
Location1q25.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-01-14
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPODO_HUMAN

GO terms

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GOName
GO:0005783 endoplasmic reticulum
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005911 cell-cell junction
GO:0007588 excretion
GO:0031235 intrinsic component of the cytoplasmic side of the plasma membrane
GO:0031532 actin cytoskeleton reorganization
GO:0032991 protein-containing complex
GO:0036057 slit diaphragm
GO:0045121 membrane raft
GO:0070062 extracellular exosome
GO:0072249 metanephric glomerular visceral epithelial cell development

Diseases

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Disease IDSourceNameDescription
600995 OMIMNephrotic syndrome 2 (NPHS2)A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades. Some patients show later onset of the disorder. The disease is caused by variants affecting the gene represented in this entry.

Interactions

6 interactions