InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KCNE2

Summary

InnateDB Protein

IDBP-2735.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

KCNE2

Protein Name

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

Synonyms

ATFB4; LQT5; LQT6; MIRP1;

Species

Homo sapiens

Ensembl Protein

ENSP00000290310

InnateDB Gene

IDBG-2733 (KCNE2)

Protein Structure

UniProt Annotation

Function

Ancillary 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.

Subcellular Localization

Membrane; Single-pass type I membrane protein.

Disease Associations

Long 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:0000269PubMed:10219239, ECO:0000269PubMed:12185453, ECO:0000269PubMed:16922724}. Note=The disease is caused by mutations affecting the gene represented in this entry.Atrial 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:0000269PubMed:15368194}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly 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:0000269PubMed:11034315}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005242	inward rectifier potassium channel activity
GO:0005249	voltage-gated potassium channel activity
GO:0005251	delayed rectifier potassium channel activity
GO:0005515	protein binding
GO:0015459	potassium channel regulator activity
GO:0042803	protein homodimerization activity
GO:0044325	ion channel binding
GO:1902282	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization

Biological Process

GO:0006811	ion transport
GO:0007568	aging
GO:0010107	potassium ion import
GO:0034613	cellular protein localization
GO:0035690	cellular response to drug
GO:0043586	tongue development
GO:0060306	regulation of membrane repolarization
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization
GO:0071435	potassium ion export
GO:0071805	potassium ion transmembrane transport
GO:0086002	cardiac muscle cell action potential involved in contraction
GO:0086005	ventricular cardiac muscle cell action potential
GO:0086009	membrane repolarization
GO:0086011	membrane repolarization during action potential
GO:0086091	regulation of heart rate by cardiac conduction
GO:1901379	regulation of potassium ion transmembrane transport
GO:1901800	positive regulation of proteasomal protein catabolic process
GO:1901979	regulation of inward rectifier potassium channel activity
GO:1902159	regulation of cyclic nucleotide-gated ion channel activity
GO:1902259	regulation of delayed rectifier potassium channel activity
GO:2001257	regulation of cation channel activity

Cellular Component

GO:0005764	lysosome
GO:0005886	plasma membrane
GO:0008076	voltage-gated potassium channel complex
GO:0009986	cell surface
GO:0016020	membrane
GO:0016021	integral component of membrane