Gene: KCNE3

Alternate names for this Gene: BRGDA6|HOKPP|HYPP|MiRP2

Gene Summary: Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.4

Description of this Gene: potassium voltage-gated channel subfamily E regulatory subunit 3

Type of Gene: protein-coding

rs200856070 in KCNE3 gene and Brugada Syndrome 6 PMID 22987075 2012 KCNE3 T4A as the genetic basis of Brugada-pattern electrocardiogram.

PMID 19306396 2009 Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome.

rs34604640 in KCNE3 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs34604640 in KCNE3 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs34604640 in KCNE3 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs34604640 in KCNE3 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.