Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol NPHS2 contributors: mct/npt - updated : 29-12-2020
HGNC name nephrosis 2, idiopathic, steroid-resistant (podocin)
HGNC id 13394
Corresponding disease
SRN1 steroid-resistant nephrotic syndrome 1
Location 1q25.2      Physical location : 179.519.676 - 179.545.084
Synonym name podocin
Synonym symbol(s) PDCN, PODO
DNA
TYPE functioning gene
STRUCTURE 25.45 kb     8 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
regulatory sequence
MAPPING cloned Y linked Y status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 1893 - 383 - 2013 23648087
7 - 1666 - 315 - 2013 23648087
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Urinarykidneynephron   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialabsorptive excretoryglomerular epithelium  
cells
SystemCellPubmedSpeciesStageRna symbol
Urinarypodocyte
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal
Text kidney, metanephros (podocyte of kidney glomeruli)
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal adjacent hydrophobic domain that attaches the proteins to the inner leaflet of the plasma membrane
  • a large cytoplasmic tail
  • a PHB domain
  • the proximal part and the TM segment homolog to the corresponding region of stomatin
  • conjugated PhosphoP
    HOMOLOGY
    Homologene
    FAMILY
  • glomerular protein, stomatin protein family
  • prohibitin (PHB)-domain proteins family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • regulating glomerular permeability (probable linker between the plasma membrane and the cytoskeleton)
  • involved in the function of the filtration barrier in the kidney
  • regulating membrane protein function by binding sterols, perhaps by altering their local lipid environment
  • podocin, encoded by NPHS2 is a membrane-anchored component of the slit diaphragm
  • CELLULAR PROCESS protein
    PHYSIOLOGICAL PROCESS excretion
    PATHWAY
    metabolism
    signaling
    a component
  • complexing with NPHS1
  • component of the glomerular slit membrane with major regulatory functions in the renal permeability of proteins (Harendza 2009)
  • C-terminal oligomerization of podocin mediates interallelic interactions
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • bind cholesterol through the PHB domain (including palmitoylation sites within it) and part of the N-terminally adjacent hydrophobic domain that attaches the proteins to the inner leaflet of the plasma membrane
  • cell & other
    REGULATION
    Other specifically regulated by the transcription factor LMX1Band by the functional polymorphism -116C/T (Harendza 2009)
    ASSOCIATED DISORDERS
    corresponding disease(s) SRN1
    Susceptibility
  • to nondiabetic end-stage renal disease
  • to minimal change glomerulonephritis, focal segmental glomerulosclerosis or membranous nephropathy
  • to late-onset sporadic focal segmental glomerulosclerosis
  • Variant & Polymorphism other
  • variants may play a role in the development of nondiabetic end-stage renal disease
  • R229Q, present with a relatively higher allele frequency (~3p100), could behave as a common susceptibility factor to minimal change nephrotic syndrome (Shono 2009)
  • R138Q carriers were more frequent among late-onset sporadic focal segmental glomerulosclerosis (McKenzie 2007)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS