Symbol: Name: ID: |
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) GFS:2991 |
Gene name: | NPHS2 |
Chromosome: | 1q25-q31 |
Previous Symbols: | |
Previous Names: | |
Aliases: | SRN1, PDCN |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2157018 | Rat Genome Database ID: | RGD:620461 |
HGNC ID: | HGNC:13394 | RefSeq IDs: | NM_014625 |
Entrez Gene ID: | 7827 | Ensembl Gene ID: | ENSG00000116218 |
VEGA IDs: | OTTHUMG00000035252 | UniProt ID: | Q9NP85 |
UCSC ID: | uc001gmq.3 | OMIM ID: | 604766 |
Pubmed: | PMID8589695 PMID 10742096 | ||
CCDS IDs: | CCDSCCDS1331.1 |
Podocin is a protein that in humans is encoded by the NPHS2 gene.
This gene encodes the glomerular protein podocin which plays a role in the regulation of glomerular permeability, and acts as a linker between the plasma membrane and the cytoskeleton. Defects in this gene are the cause of autosomal recessive steroid-resistant nephrotic syndrome (SRN). SRN is characterized by onset between three months and five years, resistance to steroid therapy and rapid progression to end-stage renal disease. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton.
Products for NPHS2 gene
Catalog | Product Name | Application | Company |
GFS:E02991 | nephrosis 2, idiopathic, steroid-resistant (podocin); ELISA kit | ELISA | n/a |
GFS:A02991 | nephrosis 2, idiopathic, steroid-resistant (podocin); Anti | ANTIBODIES | n/a |
GFS:P02991 | nephrosis 2, idiopathic, steroid-resistant (podocin); Protien | Protien | n/a |