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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

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