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FLASH GENE
Symbol NPHS2 contributors: mct/npt - updated : 29-12-2020
HGNC name nephrosis 2, idiopathic, steroid-resistant (podocin)
HGNC id 13394
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