KCNE2

Description 
potassium voltage-gated channel, Isk-related family, member 2

 

KCNE2 (NM_172201.1) encodes a voltage gated potassium channel protein (also called MiRP1) that assembles with the KCNH2 pore-forming protein (also called HERG) to alter its function.   The KCNE2 gene contains 2 exons (1 coding exon) and is located at 21q22.   Loss of function mutations in KCNE2 account for approximately 1% of all individuals with Romano-Ward syndrome, an autosomal dominant form of long QT syndrome (LQTS) (Splawski et al. 2000 Circulation. 102:1178-1185) and has also been associated with drug-induced long QT syndrome (Sesti et al. 2000 PNAS. 97:10613-10618).  In addition, mutations in KCNE2 have been associated with familial atrial fibrillation.

Aliases 
ATFB4, LQT5, LQT6, MIRP1
Chromosomal Locations 
21q22