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 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]

Chromosome

1

Cytoband

q25.2

Chromosome location (bp)

179550539 - 179575952

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000116218 (version 78.38)

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