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MGP004078

UniProt Annotations

Entry Information
Gene Namepotassium channel, voltage gated subfamily E regulatory beta subunit 2
Protein EntryKCNE2_HUMAN
UniProt IDQ9Y6J6
SpeciesHuman
Comments
Comment typeDescription
DiseaseAtrial fibrillation, familial, 4 (ATFB4) [MIM:611493]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269|PubMed:15368194}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseLong QT syndrome 6 (LQT6) [MIM:613693]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269|PubMed:10219239, ECO:0000269|PubMed:12185453, ECO:0000269|PubMed:16922724}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionAncillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Associated with KCNH2/HERG is proposed to form the rapidly activating component of the delayed rectifying potassium current in heart (IKr). May associate with KCNQ2 and/or KCNQ3 and modulate the native M-type current. May associate with KCNQ1/KVLTQ1 and elicit a voltage-independent current. May associate with HCN1 and HCN2 and increase potassium current.
SimilarityBelongs to the potassium channel KCNE family. {ECO:0000305}.
Subcellular LocationMembrane; Single-pass type I membrane protein.
SubunitAssociates with KCNH2/ERG1. May associate with KCNQ1/KVLQT1, KCNQ2 and KCNQ3. Associates with HCN1 and probably HCN2 (By similarity). {ECO:0000250}.
Tissue SpecificityHighly expressed in brain, heart, skeletal muscle, pancreas, placenta, kidney, colon and thymus. A small but significant expression is found in liver, ovary, testis, prostate, small intestine and leukocytes. Very low expression, nearly undetectable, in lung and spleen. {ECO:0000269|PubMed:11034315}.
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