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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Urinary kidney nephron

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial absorptive excretory glomerular epithelium

cells

System Cell Pubmed Species Stage Rna symbol Urinary podocyte

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