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podocin (NPHS2)
Function:
1) regulation of glomerular permeability
2) links plasma membrane & cytoskeleton
3) interacts with nephrin, KIRRE, CD2AP, DDN
Structure:
- isoform 2 is glycosylated
- belongs to the band 7/mec-2 family
Compartment:
- isoform 1: cell membrane
- isoform 2: endoplasmic reticulum
Alternative splicing: named isoforms=2
Expression: expressed in podocytes of renal glomeruli
Pathology:
- defects in NPHS2 are the cause of autosomal recessive steroid-resistant nephrotic syndrome (nephrotic syndrome 2)
Polymorphism:
- variants Leu-20, Gln-264 & Gln-237 have been reclassified as neutral polymorphisms [2-5]
Note: distinguish from podocan
Related
podocan (PODN)
General
membrane protein
Properties
SIZE: MW = 42 kD
entity length = 383 aa
COMPARTMENT: endoplasmic reticulum
MOTIF: cysteine residue {C101}
MODIFICATION: palmitate
COMPARTMENT: membrane
transmembrane domain {103-123}
Database Correlations
OMIM correlations
MORBIDMAP 604766
UniProt Q9NP85
Pfam PF01145
Entrez Gene 7827
Kegg hsa:7827
References
- UniProt :accession Q9NP85
- PMID: 10742096
- PMID: 20947785
- PMID: 15253708
- PMID: 24227627
- PMID: 17899208
- PMID: 22565185
- PMID: 22578956
- PMID: 23242530
- PMID: 23913389
- PMID: 24072147