Aliases for NPHS2 Gene
External Ids for NPHS2 Gene
Previous GeneCards Identifiers for NPHS2 Gene
This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
GeneCards Summary for NPHS2 Gene
NPHS2 (NPHS2 Stomatin Family Member, Podocin) is a Protein Coding gene. Diseases associated with NPHS2 include Nephrotic Syndrome, Type 2 and Genetic Steroid-Resistant Nephrotic Syndrome. Among its related pathways are Primary Focal Segmental Glomerulosclerosis FSGS and Nephrin/Neph1 signaling in the kidney podocyte. An important paralog of this gene is STOM.
UniProtKB/Swiss-Prot Summary for NPHS2 Gene
Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton.