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Protein

Potassium voltage-gated channel subfamily E member 2

Gene

KCNE2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionIon channel, Potassium channel, Voltage-gated channel
Biological processIon transport, Potassium transport, Transport
LigandPotassium

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000159197.3
HGNCiHGNC:6242 KCNE2
MIMi603796 gene
neXtProtiNX_Q9Y6J6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

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

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_07492114V → I in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs142153692EnsemblClinVar.1
Natural variantiVAR_07492220I → N in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473363EnsemblClinVar.1
Natural variantiVAR_07492327R → H in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs148968498EnsemblClinVar.1
Natural variantiVAR_00837754M → T in LQT6; forms I(KR) channels that deactivate twice as fast as wild type. 2 PublicationsCorresponds to variant dbSNP:rs74315447EnsemblClinVar.1
Natural variantiVAR_00837857I → T in LQT6; may affect KCNQ1/KCNE2 channel. 3 PublicationsCorresponds to variant dbSNP:rs74315448EnsemblClinVar.1
Natural variantiVAR_02933460F → L in LQT6; may be a rare polymorphism. 1 PublicationCorresponds to variant dbSNP:rs16991654EnsemblClinVar.1
Natural variantiVAR_07492465V → L in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473364EnsemblClinVar.1
Natural variantiVAR_01506365V → M in LQT6. 1 PublicationCorresponds to variant dbSNP:rs199473364EnsemblClinVar.1
Natural variantiVAR_07492577R → Q in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473365EnsemblClinVar.1
Natural variantiVAR_03538677R → W in LQT6. 1 PublicationCorresponds to variant dbSNP:rs141423405EnsemblClinVar.1
Natural variantiVAR_07492694E → G in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs74424227EnsemblClinVar.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 dbSNP:rs74315449EnsemblClinVar.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
GeneReviewsiKCNE2
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...) asparagineSequence analysis1
Glycosylationi29N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9Y6J6
PeptideAtlasiQ9Y6J6
PRIDEiQ9Y6J6
ProteomicsDBi86701

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 Expressed in 90 organ(s), highest expression level in body of stomach
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

Protein-protein interaction databases

BioGridi115313, 3 interactors
ComplexPortaliCPX-3073 Voltage-gated potassium channel complex variant 2
CORUMiQ9Y6J6
STRINGi9606.ENSP00000290310

Structurei

Secondary structure

1123
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

InterProiView protein in InterPro
IPR000369 K_chnl_KCNE
IPR005425 K_chnl_volt-dep_bsu_KCNE2
PANTHERiPTHR15282 PTHR15282, 1 hit
PfamiView protein in Pfam
PF02060 ISK_Channel, 1 hit
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 → A2 PublicationsCorresponds to variant dbSNP:rs2234916EnsemblClinVar.1
Natural variantiVAR_0377948T → I. Corresponds to variant dbSNP:rs35759083Ensembl.1
Natural variantiVAR_0083769Q → E Polymorphism; risk factor for drug-induced arrhythmia; impedes activation and increases sensitivity to macrolide antibiotics; may lower current in KCNQ1/KCNE2 channel. 1 PublicationCorresponds to variant dbSNP:rs16991652EnsemblClinVar.1
Natural variantiVAR_07492114V → I in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs142153692EnsemblClinVar.1
Natural variantiVAR_07492220I → N in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473363EnsemblClinVar.1
Natural variantiVAR_03779527R → C in ATFB4; gain-of-function mutation associated with the initiation and/or maintenance of AF. 1 PublicationCorresponds to variant dbSNP:rs74315449EnsemblClinVar.1
Natural variantiVAR_07492327R → H in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs148968498EnsemblClinVar.1
Natural variantiVAR_00837754M → T in LQT6; forms I(KR) channels that deactivate twice as fast as wild type. 2 PublicationsCorresponds to variant dbSNP:rs74315447EnsemblClinVar.1
Natural variantiVAR_00837857I → T in LQT6; may affect KCNQ1/KCNE2 channel. 3 PublicationsCorresponds to variant dbSNP:rs74315448EnsemblClinVar.1
Natural variantiVAR_02933460F → L in LQT6; may be a rare polymorphism. 1 PublicationCorresponds to variant dbSNP:rs16991654EnsemblClinVar.1
Natural variantiVAR_07492465V → L in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473364EnsemblClinVar.1
Natural variantiVAR_01506365V → M in LQT6. 1 PublicationCorresponds to variant dbSNP:rs199473364EnsemblClinVar.1
Natural variantiVAR_02205266A → V. Corresponds to variant dbSNP:rs16991656EnsemblClinVar.1
Natural variantiVAR_07492577R → Q in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473365EnsemblClinVar.1
Natural variantiVAR_03538677R → W in LQT6. 1 PublicationCorresponds to variant dbSNP:rs141423405EnsemblClinVar.1
Natural variantiVAR_07492694E → G in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs74424227EnsemblClinVar.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

Similar proteinsi

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, 3 interactors
ComplexPortaliCPX-3073 Voltage-gated potassium channel complex variant 2
CORUMiQ9Y6J6
STRINGi9606.ENSP00000290310

PTM databases

iPTMnetiQ9Y6J6
PhosphoSitePlusiQ9Y6J6

Polymorphism and mutation databases

BioMutaiKCNE2
DMDMi6685661

Proteomic databases

PaxDbiQ9Y6J6
PeptideAtlasiQ9Y6J6
PRIDEiQ9Y6J6
ProteomicsDBi86701

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
EuPathDBiHostDB:ENSG00000159197.3
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

ReactomeiR-HSA-5576890 Phase 3 - rapid repolarisation
R-HSA-5576893 Phase 2 - plateau phase

Miscellaneous databases

GeneWikiiKCNE2
GenomeRNAii9992
PROiPR:Q9Y6J6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000159197 Expressed in 90 organ(s), highest expression level in body of stomach
CleanExiHS_KCNE2
GenevisibleiQ9Y6J6 HS

Family and domain databases

InterProiView protein in InterPro
IPR000369 K_chnl_KCNE
IPR005425 K_chnl_volt-dep_bsu_KCNE2
PANTHERiPTHR15282 PTHR15282, 1 hit
PfamiView protein in Pfam
PF02060 ISK_Channel, 1 hit
PRINTSiPR01605 KCNE2CHANNEL
ProtoNetiSearch...

Entry informationi

Entry nameiKCNE2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6J6
Secondary accession number(s): A5H1P3, D3DSF8, Q52LJ5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1999
Last modified: September 12, 2018
This is version 164 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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