Q9Y6J6 · KCNE2_HUMAN
- ProteinPotassium voltage-gated channel subfamily E member 2
- GeneKCNE2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids123 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Ancillary protein that functions as a regulatory subunit of the voltage-gated potassium (Kv) channel complex composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits (PubMed:10219239, PubMed:11034315, PubMed:11101505, PubMed:12185453, PubMed:20533308).
KCNE2 beta subunit modulates the gating kinetics and enhances stability of the channel complex (PubMed:10219239, PubMed:11034315, PubMed:11101505, PubMed:12185453, PubMed:20533308).
Alters the gating of the delayed rectifier Kv channel containing KCNB1 alpha subunit (PubMed:11101505, PubMed:20533308).
Associates with KCNH2/HERG alpha subunit Kv channel to form the rapidly activating component of the delayed rectifying potassium current (IKr) in heart (PubMed:10219239, PubMed:12185453).
May associate with KCNQ2 and/or KCNQ3 alpha subunits to modulate the native M-type current (PubMed:11034315).
May associate with HCN1 and HCN2 channel subunits to increase potassium current (By similarity).
Forms a heterooligomer complex with KCNQ1/KVLQT1 alpha subunits which leads to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505).
KCNQ1-KCNE2 channel associates with Na+-coupled myo-inositol symporter in the apical membrane of choroid plexus epithelium and regulates the myo-inositol gradient between blood and cerebrospinal fluid with an impact on neuron excitability (By similarity).
KCNE2 beta subunit modulates the gating kinetics and enhances stability of the channel complex (PubMed:10219239, PubMed:11034315, PubMed:11101505, PubMed:12185453, PubMed:20533308).
Alters the gating of the delayed rectifier Kv channel containing KCNB1 alpha subunit (PubMed:11101505, PubMed:20533308).
Associates with KCNH2/HERG alpha subunit Kv channel to form the rapidly activating component of the delayed rectifying potassium current (IKr) in heart (PubMed:10219239, PubMed:12185453).
May associate with KCNQ2 and/or KCNQ3 alpha subunits to modulate the native M-type current (PubMed:11034315).
May associate with HCN1 and HCN2 channel subunits to increase potassium current (By similarity).
Forms a heterooligomer complex with KCNQ1/KVLQT1 alpha subunits which leads to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505).
KCNQ1-KCNE2 channel associates with Na+-coupled myo-inositol symporter in the apical membrane of choroid plexus epithelium and regulates the myo-inositol gradient between blood and cerebrospinal fluid with an impact on neuron excitability (By similarity).
GO annotations
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended namePotassium voltage-gated channel subfamily E member 2
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9Y6J6
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Cell membrane ; Single-pass type I membrane protein
Apical cell membrane ; Single-pass membrane protein
Note: Colocalizes with KCNB1 at the plasma membrane.
Features
Showing features for transmembrane, topological domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transmembrane | 49-69 | Helical | ||||
Sequence: VILYLMVMIGMFSFIIVAILV | ||||||
Topological domain | 70-123 | Cytoplasmic | ||||
Sequence: STVKSKRREHSNDPYHQYIVEDWQEKYKSQILNLEESKATIHENIGAAGFKMSP |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Long QT syndrome 6 (LQT6)
- Note
- DescriptionA 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.
- See alsoMIM:613693
Natural variants in LQT6
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_074921 | 14 | V>I | in LQT6; uncertain significance; dbSNP:rs142153692 | |
VAR_074922 | 20 | I>N | in LQT6; uncertain significance; dbSNP:rs199473363 | |
VAR_074923 | 27 | R>H | in LQT6; uncertain significance; dbSNP:rs148968498 | |
VAR_008377 | 54 | M>T | in LQT6; forms I(KR) channels that deactivate twice as fast as wild type; dbSNP:rs74315447 | |
VAR_008378 | 57 | I>T | in LQT6; may affect KCNQ1/KCNE2 channel; dbSNP:rs74315448 | |
VAR_029334 | 60 | F>L | in LQT6; uncertain significance; dbSNP:rs16991654 | |
VAR_074924 | 65 | V>L | in LQT6; uncertain significance; dbSNP:rs199473364 | |
VAR_015063 | 65 | V>M | in LQT6; dbSNP:rs199473364 | |
VAR_074925 | 77 | R>Q | in LQT6; uncertain significance; dbSNP:rs199473365 | |
VAR_035386 | 77 | R>W | in LQT6; dbSNP:rs141423405 | |
VAR_074926 | 94 | E>G | in LQT6; uncertain significance; dbSNP:rs74424227 |
Atrial fibrillation, familial, 4 (ATFB4)
- Note
- DescriptionA 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.
- See alsoMIM:611493
Natural variants in ATFB4
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_037795 | 27 | R>C | in ATFB4; gain-of-function mutation associated with the initiation and/or maintenance of AF; dbSNP:rs74315449 |
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_008375 | 8 | in dbSNP:rs2234916 | |||
Sequence: T → A | ||||||
Natural variant | VAR_037794 | 8 | in dbSNP:rs35759083 | |||
Sequence: T → I | ||||||
Natural variant | VAR_008376 | 9 | risk factor for drug-induced arrhythmia; impedes activation and increases sensitivity to macrolide antibiotics; may lower current in KCNQ1/KCNE2 channel; dbSNP:rs16991652 | |||
Sequence: Q → E | ||||||
Natural variant | VAR_074921 | 14 | in LQT6; uncertain significance; dbSNP:rs142153692 | |||
Sequence: V → I | ||||||
Natural variant | VAR_074922 | 20 | in LQT6; uncertain significance; dbSNP:rs199473363 | |||
Sequence: I → N | ||||||
Natural variant | VAR_037795 | 27 | in ATFB4; gain-of-function mutation associated with the initiation and/or maintenance of AF; dbSNP:rs74315449 | |||
Sequence: R → C | ||||||
Natural variant | VAR_074923 | 27 | in LQT6; uncertain significance; dbSNP:rs148968498 | |||
Sequence: R → H | ||||||
Natural variant | VAR_008377 | 54 | in LQT6; forms I(KR) channels that deactivate twice as fast as wild type; dbSNP:rs74315447 | |||
Sequence: M → T | ||||||
Natural variant | VAR_008378 | 57 | in LQT6; may affect KCNQ1/KCNE2 channel; dbSNP:rs74315448 | |||
Sequence: I → T | ||||||
Natural variant | VAR_029334 | 60 | in LQT6; uncertain significance; dbSNP:rs16991654 | |||
Sequence: F → L | ||||||
Natural variant | VAR_074924 | 65 | in LQT6; uncertain significance; dbSNP:rs199473364 | |||
Sequence: V → L | ||||||
Natural variant | VAR_015063 | 65 | in LQT6; dbSNP:rs199473364 | |||
Sequence: V → M | ||||||
Natural variant | VAR_022052 | 66 | in dbSNP:rs16991656 | |||
Sequence: A → V | ||||||
Mutagenesis | 75 | Increases tail current in KCNH2/KCNE2 channel. | ||||
Sequence: K → H | ||||||
Natural variant | VAR_074925 | 77 | in LQT6; uncertain significance; dbSNP:rs199473365 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_035386 | 77 | in LQT6; dbSNP:rs141423405 | |||
Sequence: R → W | ||||||
Natural variant | VAR_074926 | 94 | in LQT6; uncertain significance; dbSNP:rs74424227 | |||
Sequence: E → G |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 185 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for chain, glycosylation.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000144285 | 1-123 | Potassium voltage-gated channel subfamily E member 2 | |||
Sequence: MSTLSNFTQTLEDVFRRIFITYMDNWRQNTTAEQEALQAKVDAENFYYVILYLMVMIGMFSFIIVAILVSTVKSKRREHSNDPYHQYIVEDWQEKYKSQILNLEESKATIHENIGAAGFKMSP | ||||||
Glycosylation | 6 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 29 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
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.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Interacts with KCNB1 (By similarity).
Associates with KCNH2/ERG1 (PubMed:10219239).
May associate with KCNQ2 and KCNQ3 (PubMed:11034315).
Associates with HCN1 and probably HCN2. Heteromultimer with KCNC2. Interacts with KCNC2 (By similarity).
Interacts with KCNQ1; forms a heterooligomer complex that targets to the membrane raft and leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505, PubMed:20533308).
Associates with KCNH2/ERG1 (PubMed:10219239).
May associate with KCNQ2 and KCNQ3 (PubMed:11034315).
Associates with HCN1 and probably HCN2. Heteromultimer with KCNC2. Interacts with KCNC2 (By similarity).
Interacts with KCNQ1; forms a heterooligomer complex that targets to the membrane raft and leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505, PubMed:20533308).
Protein-protein interaction databases
Miscellaneous
Structure
Sequence
- Sequence statusComplete
- Length123
- Mass (Da)14,472
- Last updated1999-11-01 v1
- ChecksumC3016415E1B44890
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF071002 EMBL· GenBank· DDBJ | AAD28086.1 EMBL· GenBank· DDBJ | mRNA | ||
AF302095 EMBL· GenBank· DDBJ | AAG13416.1 EMBL· GenBank· DDBJ | mRNA | ||
DQ784804 EMBL· GenBank· DDBJ | ABQ01239.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471079 EMBL· GenBank· DDBJ | EAX09791.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC093892 EMBL· GenBank· DDBJ | AAH93892.1 EMBL· GenBank· DDBJ | mRNA | ||
BC112087 EMBL· GenBank· DDBJ | AAI12088.1 EMBL· GenBank· DDBJ | mRNA |