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FLASH GENE
Symbol NPHS2 contributors: mct/npt - updated : 28-11-2009
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 25.41 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
Physical map
PLAC3 1q23-q25 placenta-specific 3 ASTN 1q25.2 astrotactin LOC57795 1q24.1-q25.3 hypothetical protein from clone 24828 RGPR 1q24.2-q25.2 hypothetical protein from clone 24828 LOC391141 1 similar to Quinone oxidoreductase (NADPH:quinone reductase) (Zeta-crystallin) RASAL2 1q25 RAS protein activator like 2 DKFZP564J047 1q24.3 hypothetical protein DKFZp564J047 FLJ10244 1q24.3 Ral-A exchange factor RalGPS2 ANGPTL1 1q24.2 angiopoietin-like 1 FAM20B 1q25 family with sequence similarity 20, member B TOR3A 1q24.2-q24.3 torsin family 3, member A ABL2 1q24-q25 v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene) SOAT1 1q25 sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1 FLJ32940 1q24.3 hypothetical protein FLJ32940 NPHS2 1q25-q31 nephrosis 2, idiopathic, steroid-resistant (podocin) LOC126860 1q24.3 similar to centaurin, gamma 2 TDRD5 1q24.2 tudor domain containing 5 MGC16664 1q25.1 hypothetical protein MGC16664 LOC163590 1q25.1 AF464140 IFRG15 1q25.1 IFRG15 protein LAP1B 1q24.2 lamina-associated polypeptide 1B CAP350 1p36.13-q41 lamina-associated polypeptide 1B QSCN6 1q24 quiescin Q6 FLJ23867 1q25.1 hypothetical protein FLJ23867 LHX4 1q24.1-q24.3 LIM homeobox 4 LOC388717 1 LOC388717 ACBD6 1q25.1 acyl-Coenzyme A binding domain containing 6 XPR1 1q25 xenotropic and polytropic retrovirus receptor KIAA1614 1q25.1 KIAA1614 protein LOC391142 1 hypothetical gene supported by AJ249778; NM_001531 STX6 1p36 syntaxin 6 MR1 1q25.3 major histocompatibility complex, class I-related IER5 1q25.1 immediate early response 5 LOC284646 1q25.1 hypothetical gene supported by BC039493 CACNA1E 1q25-q31 calcium channel, voltage-dependent, alpha 1E subunit LOC127665 1q25.2 similar to zinc finger protein 135 (clone pHZ-17); zinc finger protein 61 LOC388718 1 similar to Protein translation factor SUI1 homolog (Sui1iso1) GLUL 1q31 glutamate-ammonia ligase (glutamine synthase) HE9 1q25.2 putative membrane protein HE9 LOC388719 1 hypothetical gene supported by AF508909 LOC127671 1q25.2 similar to CE9 protein RGSL2 1q25.2 regulator of G-protein signalling like 2 RGSL1  regulator of G-protein signalling like 1 RNASEL 1q25 ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 1893 - 383 - Harendza (2009)
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
    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
  • 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)
  • 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