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FLASH GENE

Symbol

KCNE1

contributors: mct/npt/pgu - updated : 26-04-2017

HGNC name	potassium voltage-gated channel, Isk-related family, member 1
HGNC id	6240

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

JLNS2 , LQT5

related resource

Long QT Syndrome Database Congenital Long QT Syndrome at GeneDis Gene Connection for the Heart - Long QT Syndrome database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in mild-to-moderate chronic heart failure, contribute to the preferential prolongation of QT interval through reducing the net outward current during the plateau of the action potential

Susceptibility

to QT prolongation and risk of arrhythmia or sudden death to Ménière disease

Variant & Polymorphism SNP	G38S or D85N variant is involved in determining QT prolongation
	rs2283222 located in intron 11 in KCNQ1 remained significantly associated with sudden/arrhythmic death
	rs1805127, rs1805128, and rs17173510, in KCNE1 were found in patients with Ménière disease

Candidate gene	physical inteeraction between KCNQ1 and KCNE1 is potentially affected in some LQTS mutations
Marker
Therapy target

ANIMAL & CELL MODELS