Homo sapiens Gene: NPHS2
Summary
InnateDB Gene IDBG-105120.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NPHS2
Gene Name nephrosis 2, idiopathic, steroid-resistant (podocin)
Synonyms PDCN; SRN1;
Species Homo sapiens
Ensembl Gene ENSG00000116218
Encoded Proteins
nephrosis 2, idiopathic, steroid-resistant (podocin)
nephrosis 2, idiopathic, steroid-resistant (podocin)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:179550539-179575952
Strand Reverse strand
Band q25.2
Transcripts
ENST00000367616 ENSP00000356588
ENST00000367615 ENSP00000356587
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Cell-Cell communication pathway
Nephrin interactions pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Nephrin/Neph1 signaling in the kidney podocyte
Cross-References
SwissProt Q9NP85
TrEMBL
UniProt Splice Variant
Entrez Gene 7827
UniGene Hs.412710
RefSeq NM_014625 NM_001297575 XM_005245484
HUGO HGNC:13394
OMIM 604766
CCDS CCDS1331 CCDS72988
HPRD 05303
IMGT
EMBL AJ279246 AJ279247 AJ279248 AJ279249 AJ279250 AJ279251 AJ279252 AJ279253 AJ279254 AL160286 BC029141 CH471067
GenPept AAH29141 CAB83216 CAB83272 CAI15397 CAI15398 EAW91049 EAW91050
RNA Seq Atlas 7827