NPHS2

GENE INFORMATION

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Gene name

NPHS2 (HGNC Symbol)

Synonyms

PDCN, SRN1

Description

Nephrosis 2, idiopathic, steroid-resistant (podocin) (HGNC Symbol)

Entrez gene summary

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, Jul 2008]

Chromosome

1

Cytoband

q25.2

Chromosome location (bp)

179519674 - 179545087

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000116218 (version 75.37)

Entrez gene

7827

UniProt

Q9NP85 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NP85

Antibodypedia

NPHS2 antibodies
 

PROTEIN VIEW

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NPHS2-001
 
NPHS2-002
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NPHS2-001 ENSP00000356587
ENST00000367615
Q9NP85
Show all »
Show » Show » 383 42.2 No 1
NPHS2-002 ENSP00000356588
ENST00000367616
Q9NP85
Show all »
Show » Show » 315 34.4 No 1