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FLASH GENE

Symbol

AQP2

contributors: mct/npt/pgu - updated : 02-04-2017

HGNC name	aquaporin 2 (collecting duct)
HGNC id	634

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DIR2

related resource

Nephrotic diabetes Insipidus

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in the endolymphatic sac was significantly in Meniere patients

Susceptibility

to Ménière disease

Variant & Polymorphism SNP	variant rs426496 in AQP2 were found in patients with Ménière disease

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurosensorial ear   aquaporins appear to be important for the development of novel drug therapies for Meniere disease and related disorders cancer     inhibition of AQP may be a potential method for antitumor therapy

ANIMAL & CELL MODELS