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Protein

Potassium voltage-gated channel subfamily E member 2

Gene

KCNE2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1. 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 HCN1 and HCN2 and increase potassium current. Interacts with KCNQ1; forms a heterooligomer complex 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).By similarity2 Publications

GO - Molecular functioni

GO - Biological processi

  • aging Source: Ensembl
  • cardiac conduction Source: Reactome
  • cardiac muscle cell action potential involved in contraction Source: BHF-UCL
  • cellular response to drug Source: BHF-UCL
  • membrane repolarization Source: BHF-UCL
  • membrane repolarization during action potential Source: BHF-UCL
  • membrane repolarization during ventricular cardiac muscle cell action potential Source: BHF-UCL
  • negative regulation of delayed rectifier potassium channel activity Source: UniProtKB
  • positive regulation of proteasomal protein catabolic process Source: BHF-UCL
  • positive regulation of voltage-gated calcium channel activity Source: Ensembl
  • potassium ion export Source: BHF-UCL
  • potassium ion import Source: BHF-UCL
  • potassium ion transmembrane transport Source: BHF-UCL
  • regulation of cyclic nucleotide-gated ion channel activity Source: Ensembl
  • regulation of delayed rectifier potassium channel activity Source: BHF-UCL
  • regulation of heart rate by cardiac conduction Source: BHF-UCL
  • regulation of inward rectifier potassium channel activity Source: BHF-UCL
  • regulation of membrane repolarization Source: BHF-UCL
  • regulation of potassium ion transmembrane transport Source: BHF-UCL
  • regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL
  • tongue development Source: Ensembl
  • ventricular cardiac muscle cell action potential Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Potassium channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Potassium transport, Transport

Keywords - Ligandi

Potassium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000159197-MONOMER.
ReactomeiR-HSA-5576890. Phase 3 - rapid repolarisation.
R-HSA-5576893. Phase 2 - plateau phase.

Names & Taxonomyi

Protein namesi
Recommended name:
Potassium voltage-gated channel subfamily E member 2
Alternative name(s):
MinK-related peptide 1
Minimum potassium ion channel-related peptide 1
Potassium channel subunit beta MiRP1
Gene namesi
Name:KCNE2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:6242. KCNE2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei49 – 69HelicalSequence analysisAdd BLAST21
Topological domaini70 – 123CytoplasmicSequence analysisAdd BLAST54

GO - Cellular componenti

  • cell surface Source: BHF-UCL
  • lysosome Source: UniProtKB
  • plasma membrane Source: UniProtKB
  • voltage-gated potassium channel complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Long QT syndrome 6 (LQT6)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease 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 also OMIM:613693
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0083769Q → E in LQT6; impedes activation and increases sensitivity to macrolide antibiotics; may lower current in KCNQ1/KCNE2 channel. 1 PublicationCorresponds to variant rs16991652dbSNPEnsembl.1
Natural variantiVAR_07492114V → I in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant rs142153692dbSNPEnsembl.1
Natural variantiVAR_07492220I → N in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant rs199473363dbSNPEnsembl.1
Natural variantiVAR_07492327R → H in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant rs148968498dbSNPEnsembl.1
Natural variantiVAR_00837754M → T in LQT6; forms I(KR) channels that deactivate twice as fast as wild type. 2 PublicationsCorresponds to variant rs74315447dbSNPEnsembl.1
Natural variantiVAR_00837857I → T in LQT6; may affect KCNQ1/KCNE2 channel. 3 PublicationsCorresponds to variant rs74315448dbSNPEnsembl.1
Natural variantiVAR_02933460F → L in LQT6; may be a rare polymorphism. 1 PublicationCorresponds to variant rs16991654dbSNPEnsembl.1
Natural variantiVAR_07492465V → L in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant rs199473364dbSNPEnsembl.1
Natural variantiVAR_01506365V → M in LQT6. 1 PublicationCorresponds to variant rs199473364dbSNPEnsembl.1
Natural variantiVAR_07492577R → Q in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant rs199473365dbSNPEnsembl.1
Natural variantiVAR_03538677R → W in LQT6. 1 PublicationCorresponds to variant rs141423405dbSNPEnsembl.1
Natural variantiVAR_07492694E → G in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant rs74424227dbSNPEnsembl.1
Atrial fibrillation, familial, 4 (ATFB4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease 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 also OMIM:611493
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03779527R → C in ATFB4; gain-of-function mutation associated with the initiation and/or maintenance of AF. 1 PublicationCorresponds to variant rs74315449dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi75K → H: Increases tail current in KCNH2/KCNE2 channel. 1 Publication1

Keywords - Diseasei

Atrial fibrillation, Disease mutation, Long QT syndrome

Organism-specific databases

DisGeNETi9992.
MalaCardsiKCNE2.
MIMi611493. phenotype.
613693. phenotype.
OpenTargetsiENSG00000159197.
Orphaneti334. Familial atrial fibrillation.
101016. Romano-Ward syndrome.
PharmGKBiPA392.

Polymorphism and mutation databases

BioMutaiKCNE2.
DMDMi6685661.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001442851 – 123Potassium voltage-gated channel subfamily E member 2Add BLAST123

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi6N-linked (GlcNAc...)Sequence analysis1
Glycosylationi29N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9Y6J6.
PeptideAtlasiQ9Y6J6.
PRIDEiQ9Y6J6.

PTM databases

iPTMnetiQ9Y6J6.
PhosphoSitePlusiQ9Y6J6.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiENSG00000159197.
CleanExiHS_KCNE2.
GenevisibleiQ9Y6J6. HS.

Organism-specific databases

HPAiHPA029706.
HPA051553.

Interactioni

Subunit structurei

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).By similarity4 Publications

GO - Molecular functioni

  • ion channel binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi115313. 2 interactors.
STRINGi9606.ENSP00000290310.

Structurei

Secondary structure

1123
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi3 – 38Combined sources36
Helixi46 – 74Combined sources29
Helixi88 – 114Combined sources27

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2M0QNMR-A1-123[»]
ProteinModelPortaliQ9Y6J6.
SMRiQ9Y6J6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the potassium channel KCNE family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IX4Y. Eukaryota.
ENOG411297Y. LUCA.
GeneTreeiENSGT00510000048894.
HOGENOMiHOG000113208.
HOVERGENiHBG052227.
InParanoidiQ9Y6J6.
KOiK04896.
OMAiNWRRNTT.
OrthoDBiEOG091G0UDJ.
PhylomeDBiQ9Y6J6.
TreeFamiTF336058.

Family and domain databases

InterProiIPR000369. K_chnl_KCNE.
IPR005425. K_chnl_volt-dep_bsu_KCNE2.
[Graphical view]
PfamiPF02060. ISK_Channel. 1 hit.
[Graphical view]
PRINTSiPR01605. KCNE2CHANNEL.

Sequencei

Sequence statusi: Complete.

Q9Y6J6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSTLSNFTQT LEDVFRRIFI TYMDNWRQNT TAEQEALQAK VDAENFYYVI
60 70 80 90 100
LYLMVMIGMF SFIIVAILVS TVKSKRREHS NDPYHQYIVE DWQEKYKSQI
110 120
LNLEESKATI HENIGAAGFK MSP
Length:123
Mass (Da):14,472
Last modified:November 1, 1999 - v1
Checksum:iC3016415E1B44890
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0083758T → A.2 PublicationsCorresponds to variant rs2234916dbSNPEnsembl.1
Natural variantiVAR_0377948T → I.Corresponds to variant rs35759083dbSNPEnsembl.1
Natural variantiVAR_0083769Q → E in LQT6; impedes activation and increases sensitivity to macrolide antibiotics; may lower current in KCNQ1/KCNE2 channel. 1 PublicationCorresponds to variant rs16991652dbSNPEnsembl.1
Natural variantiVAR_07492114V → I in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant rs142153692dbSNPEnsembl.1
Natural variantiVAR_07492220I → N in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant rs199473363dbSNPEnsembl.1
Natural variantiVAR_03779527R → C in ATFB4; gain-of-function mutation associated with the initiation and/or maintenance of AF. 1 PublicationCorresponds to variant rs74315449dbSNPEnsembl.1
Natural variantiVAR_07492327R → H in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant rs148968498dbSNPEnsembl.1
Natural variantiVAR_00837754M → T in LQT6; forms I(KR) channels that deactivate twice as fast as wild type. 2 PublicationsCorresponds to variant rs74315447dbSNPEnsembl.1
Natural variantiVAR_00837857I → T in LQT6; may affect KCNQ1/KCNE2 channel. 3 PublicationsCorresponds to variant rs74315448dbSNPEnsembl.1
Natural variantiVAR_02933460F → L in LQT6; may be a rare polymorphism. 1 PublicationCorresponds to variant rs16991654dbSNPEnsembl.1
Natural variantiVAR_07492465V → L in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant rs199473364dbSNPEnsembl.1
Natural variantiVAR_01506365V → M in LQT6. 1 PublicationCorresponds to variant rs199473364dbSNPEnsembl.1
Natural variantiVAR_02205266A → V.Corresponds to variant rs16991656dbSNPEnsembl.1
Natural variantiVAR_07492577R → Q in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant rs199473365dbSNPEnsembl.1
Natural variantiVAR_03538677R → W in LQT6. 1 PublicationCorresponds to variant rs141423405dbSNPEnsembl.1
Natural variantiVAR_07492694E → G in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant rs74424227dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF071002 mRNA. Translation: AAD28086.1.
AF302095 mRNA. Translation: AAG13416.1.
DQ784804 Genomic DNA. Translation: ABQ01239.1.
CH471079 Genomic DNA. Translation: EAX09791.1.
BC093892 mRNA. Translation: AAH93892.1.
BC112087 mRNA. Translation: AAI12088.1.
CCDSiCCDS13635.1.
RefSeqiNP_751951.1. NM_172201.1.
UniGeneiHs.551521.
Hs.736062.

Genome annotation databases

EnsembliENST00000290310; ENSP00000290310; ENSG00000159197.
GeneIDi9992.
KEGGihsa:9992.
UCSCiuc002ytt.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF071002 mRNA. Translation: AAD28086.1.
AF302095 mRNA. Translation: AAG13416.1.
DQ784804 Genomic DNA. Translation: ABQ01239.1.
CH471079 Genomic DNA. Translation: EAX09791.1.
BC093892 mRNA. Translation: AAH93892.1.
BC112087 mRNA. Translation: AAI12088.1.
CCDSiCCDS13635.1.
RefSeqiNP_751951.1. NM_172201.1.
UniGeneiHs.551521.
Hs.736062.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2M0QNMR-A1-123[»]
ProteinModelPortaliQ9Y6J6.
SMRiQ9Y6J6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115313. 2 interactors.
STRINGi9606.ENSP00000290310.

PTM databases

iPTMnetiQ9Y6J6.
PhosphoSitePlusiQ9Y6J6.

Polymorphism and mutation databases

BioMutaiKCNE2.
DMDMi6685661.

Proteomic databases

PaxDbiQ9Y6J6.
PeptideAtlasiQ9Y6J6.
PRIDEiQ9Y6J6.

Protocols and materials databases

DNASUi9992.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000290310; ENSP00000290310; ENSG00000159197.
GeneIDi9992.
KEGGihsa:9992.
UCSCiuc002ytt.2. human.

Organism-specific databases

CTDi9992.
DisGeNETi9992.
GeneCardsiKCNE2.
GeneReviewsiKCNE2.
HGNCiHGNC:6242. KCNE2.
HPAiHPA029706.
HPA051553.
MalaCardsiKCNE2.
MIMi603796. gene.
611493. phenotype.
613693. phenotype.
neXtProtiNX_Q9Y6J6.
OpenTargetsiENSG00000159197.
Orphaneti334. Familial atrial fibrillation.
101016. Romano-Ward syndrome.
PharmGKBiPA392.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IX4Y. Eukaryota.
ENOG411297Y. LUCA.
GeneTreeiENSGT00510000048894.
HOGENOMiHOG000113208.
HOVERGENiHBG052227.
InParanoidiQ9Y6J6.
KOiK04896.
OMAiNWRRNTT.
OrthoDBiEOG091G0UDJ.
PhylomeDBiQ9Y6J6.
TreeFamiTF336058.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000159197-MONOMER.
ReactomeiR-HSA-5576890. Phase 3 - rapid repolarisation.
R-HSA-5576893. Phase 2 - plateau phase.

Miscellaneous databases

GeneWikiiKCNE2.
GenomeRNAii9992.
PROiQ9Y6J6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000159197.
CleanExiHS_KCNE2.
GenevisibleiQ9Y6J6. HS.

Family and domain databases

InterProiIPR000369. K_chnl_KCNE.
IPR005425. K_chnl_volt-dep_bsu_KCNE2.
[Graphical view]
PfamiPF02060. ISK_Channel. 1 hit.
[Graphical view]
PRINTSiPR01605. KCNE2CHANNEL.
ProtoNetiSearch...

Entry informationi

Entry nameiKCNE2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6J6
Secondary accession number(s): A5H1P3, D3DSF8, Q52LJ5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1999
Last modified: November 2, 2016
This is version 154 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.