InnateDB Protein
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IDBP-2735.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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KCNE2
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Protein Name
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potassium voltage-gated channel, Isk-related family, member 2
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Synonyms
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ATFB4; LQT5; LQT6; MIRP1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000290310
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InnateDB Gene
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IDBG-2733 (KCNE2)
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Protein Structure
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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.
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Subcellular Localization |
Membrane; Single-pass type I membrane protein.
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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.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0005242
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inward rectifier potassium channel activity
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GO:0005249
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voltage-gated potassium channel activity
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GO:0005251
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delayed rectifier potassium channel activity
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GO:0005515
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protein binding
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GO:0015459
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potassium channel regulator activity
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GO:0042803
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protein homodimerization activity
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GO:0044325
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ion channel binding
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GO:1902282
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voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization
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Biological Process |
GO:0006811
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ion transport
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GO:0007568
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aging
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GO:0010107
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potassium ion import
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GO:0034613
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cellular protein localization
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GO:0035690
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cellular response to drug
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GO:0043586
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tongue development
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GO:0060306
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regulation of membrane repolarization
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GO:0060307
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regulation of ventricular cardiac muscle cell membrane repolarization
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GO:0071435
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potassium ion export
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GO:0071805
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potassium ion transmembrane transport
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GO:0086002
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cardiac muscle cell action potential involved in contraction
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GO:0086005
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ventricular cardiac muscle cell action potential
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GO:0086009
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membrane repolarization
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GO:0086011
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membrane repolarization during action potential
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GO:0086091
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regulation of heart rate by cardiac conduction
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GO:1901379
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regulation of potassium ion transmembrane transport
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GO:1901800
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positive regulation of proteasomal protein catabolic process
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GO:1901979
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regulation of inward rectifier potassium channel activity
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GO:1902159
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regulation of cyclic nucleotide-gated ion channel activity
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GO:1902259
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regulation of delayed rectifier potassium channel activity
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GO:2001257
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regulation of cation channel activity
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Cellular Component |
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PDB ID |
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InterPro |
IPR000369
Potassium channel, voltage-dependent, beta subunit, KCNE
IPR005425
Potassium channel, voltage-dependent, beta subunit, KCNE2
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PFAM |
PF02060
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PRINTS |
PR00168
PR01605
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9Y6J6
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PhosphoSite |
PhosphoSite-
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TrEMBL |
Q2N1I3
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UniProt Splice Variant |
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Entrez Gene |
9992
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UniGene |
Hs.736062
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RefSeq |
NP_751951
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HUGO |
HGNC:6242
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OMIM |
603796
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CCDS |
CCDS13635
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HPRD |
04813
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IMGT |
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EMBL |
AF071002
AF302095
BC093892
BC112087
CH471079
DQ192290
DQ784804
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GenPept |
AAD28086
AAG13416
AAH93892
AAI12088
ABB00303
ABQ01239
EAX09791
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