NPHS2 - Podocin - human protein (Function)
 
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Protein
Gene
References

 
NPHS2 »  Podocin
 
Gene name:  NPHS2
Family name: Band 7/mec-2
Entry whose protein(s) existence is based on evidence at protein level
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GENE REF ISO

Function

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Overview 
Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton.  
1
  • UniProtKB
GO molecular function 
Protein bindingdefinition[GO:0005515]  
3
  • IntAct
  • UniProtKB
GO biological process 
Actin cytoskeleton reorganizationdefinition[GO:0031532]  
1
  • UniProtKB
Excretiondefinition[GO:0007588] silver  
1
  • InterPro 2 GO
Metanephric glomerular visceral epithelial cell developmentdefinition[GO:0072249]  
1
  • UniProtKB
Pathways 
According to Reactome, this protein belongs to the following pathway:
Nephrin interactions  REACT_23832  
Caution 
Variants Leu-20 and Gln-264 have been originally reported as disease-causing mutations in NPHS2 (PubMed:10742096, PubMed:20947785). In contrast, Gln-237 has been described as a variant of unknown pathological significance (PubMed:15253708). These 3 variants have been reclassified as neutral polymorphisms (PubMed:24227627).  
1
  • UniProtKB
 

Keywords

Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

GeneWiki: NPHS2
GenomeRNAi: 7827
PRO: PR:Q9NP85