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FLASH GENE

Symbol

PKD2

contributors: mct/shn/pgu - updated : 19-01-2021

HGNC name	polycystic kidney disease 2 (autosomal dominant)
HGNC id	9009

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PKD2

related resource

Polycystickidneyresearchfoundation

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       in PKD2 cysts

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed tumor kidney   modulation of the PKD2/STX5 interaction may be a useful target for impacting dysregulated intracellular Ca2+ signaling associated with polycystic kidney disease

ANIMAL & CELL MODELS

	Pkd2-/- mice die in utero between embryonic day (E) 13.5 and parturition with structural defects in cardiac septation and cyst formation in maturing nephrons and pancreatic ducts. Pkd2WS25/- mice have pancreatic ductal and kidney cysts associated with renal failure and early death
	Pkd2 (+/-) and Pkd1(+/-) : Pkd2 (+/-) mice have mild renal cystic lesions with no adverse effect on survival at 1 year
	Pkd2 (+/-) mice develop hypertension, intracranial vascular abnormalities and vascular smooth muscle cells and have significantly altered intracellular Ca(2+) homeostasis