InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NPHS2

Summary

InnateDB Protein

IDBP-105122.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NPHS2

Protein Name

nephrosis 2, idiopathic, steroid-resistant (podocin)

Synonyms

PDCN; SRN1;

Species

Homo sapiens

Ensembl Protein

ENSP00000356588

InnateDB Gene

IDBG-105120 (NPHS2)

Protein Structure

UniProt Annotation

Function

Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton.

Subcellular Localization

Isoform 1: Cell membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}.Isoform 2: Endoplasmic reticulum {ECO:0000269PubMed:23648087}.

Disease Associations

Nephrotic syndrome 2 (NPHS2) [MIM:600995]: 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. {ECO:0000269PubMed:10742096}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Almost exclusively expressed in the podocytes of fetal and mature kidney glomeruli.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	10 [view]
Protein-Protein	10 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0007588	excretion
GO:0031532	actin cytoskeleton reorganization
GO:0072249	metanephric glomerular visceral epithelial cell development

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0005911	cell-cell junction
GO:0031235	intrinsic component of the cytoplasmic side of the plasma membrane
GO:0036057	slit diaphragm
GO:0043234	protein complex
GO:0045121	membrane raft
GO:0070062	extracellular vesicular exosome