UniProtKB - Q9Y6J6 (KCNE2_HUMAN)
Potassium voltage-gated channel subfamily E member 2
KCNE2
Functioni
GO - Molecular functioni
- delayed rectifier potassium channel activity Source: Ensembl
- identical protein binding Source: Ensembl
- inward rectifier potassium channel activity Source: Ensembl
- ion channel binding Source: BHF-UCL
- potassium channel regulator activity Source: UniProtKB
- voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization Source: BHF-UCL
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 across plasma membrane Source: BHF-UCL
- potassium ion import across plasma membrane 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
Keywordsi
Molecular function | Ion channel, Potassium channel, Voltage-gated channel |
Biological process | Ion transport, Potassium transport, Transport |
Ligand | Potassium |
Enzyme and pathway databases
PathwayCommonsi | Q9Y6J6 |
Reactomei | R-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 2Alternative name(s): MinK-related peptide 1 Minimum potassium ion channel-related peptide 1 Potassium channel subunit beta MiRP1 |
Gene namesi | Name:KCNE2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:6242, KCNE2 |
MIMi | 603796, gene |
neXtProti | NX_Q9Y6J6 |
VEuPathDBi | HostDB:ENSG00000159197.3 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Single-pass type I membrane protein By similarity
Note: Colocalizes with KCNB1 at the plasma membrane.By similarity
Endoplasmic reticulum
- endoplasmic reticulum Source: Ensembl
Golgi apparatus
- Golgi apparatus Source: Ensembl
Lysosome
- lysosome Source: UniProtKB
Plasma Membrane
- plasma membrane Source: UniProtKB
- voltage-gated potassium channel complex Source: BHF-UCL
Other locations
- cell surface Source: BHF-UCL
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 49 – 69 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 70 – 123 | CytoplasmicSequence analysisAdd BLAST | 54 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Long QT syndrome 6 (LQT6)4 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_074921 | 14 | V → I in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs142153692EnsemblClinVar. | 1 | |
Natural variantiVAR_074922 | 20 | I → N in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473363EnsemblClinVar. | 1 | |
Natural variantiVAR_074923 | 27 | R → H in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs148968498EnsemblClinVar. | 1 | |
Natural variantiVAR_008377 | 54 | M → T in LQT6; forms I(KR) channels that deactivate twice as fast as wild type. 2 PublicationsCorresponds to variant dbSNP:rs74315447EnsemblClinVar. | 1 | |
Natural variantiVAR_008378 | 57 | I → T in LQT6; may affect KCNQ1/KCNE2 channel. 3 PublicationsCorresponds to variant dbSNP:rs74315448EnsemblClinVar. | 1 | |
Natural variantiVAR_029334 | 60 | F → L in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs16991654EnsemblClinVar. | 1 | |
Natural variantiVAR_074924 | 65 | V → L in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473364EnsemblClinVar. | 1 | |
Natural variantiVAR_015063 | 65 | V → M in LQT6. 1 PublicationCorresponds to variant dbSNP:rs199473364EnsemblClinVar. | 1 | |
Natural variantiVAR_074925 | 77 | R → Q in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473365EnsemblClinVar. | 1 | |
Natural variantiVAR_035386 | 77 | R → W in LQT6. 1 PublicationCorresponds to variant dbSNP:rs141423405EnsemblClinVar. | 1 | |
Natural variantiVAR_074926 | 94 | E → G in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs74424227EnsemblClinVar. | 1 |
Atrial fibrillation, familial, 4 (ATFB4)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_037795 | 27 | R → 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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 75 | K → H: Increases tail current in KCNH2/KCNE2 channel. 1 Publication | 1 |
Keywords - Diseasei
Atrial fibrillation, Disease variant, Long QT syndromeOrganism-specific databases
DisGeNETi | 9992 |
GeneReviewsi | KCNE2 |
MalaCardsi | KCNE2 |
MIMi | 611493, phenotype 613693, phenotype |
OpenTargetsi | ENSG00000159197 |
Orphaneti | 334, Familial atrial fibrillation 101016, Romano-Ward syndrome |
PharmGKBi | PA392 |
Miscellaneous databases
Pharosi | Q9Y6J6, Tbio |
Chemistry databases
DrugBanki | DB00228, Enflurane DB01110, Miconazole DB01069, Promethazine |
Genetic variation databases
BioMutai | KCNE2 |
DMDMi | 6685661 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000144285 | 1 – 123 | Potassium voltage-gated channel subfamily E member 2Add BLAST | 123 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 6 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 29 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
PaxDbi | Q9Y6J6 |
PeptideAtlasi | Q9Y6J6 |
PRIDEi | Q9Y6J6 |
ProteomicsDBi | 86701 |
PTM databases
GlyGeni | Q9Y6J6, 2 sites |
iPTMneti | Q9Y6J6 |
PhosphoSitePlusi | Q9Y6J6 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000159197, Expressed in body of stomach and 109 other tissues |
Genevisiblei | Q9Y6J6, HS |
Organism-specific databases
HPAi | ENSG00000159197, Tissue enriched (stomach) |
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 PublicationsGO - Molecular functioni
- identical protein binding Source: Ensembl
- ion channel binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 115313, 3 interactors |
ComplexPortali | CPX-3073, Voltage-gated potassium channel complex variant 2 |
CORUMi | Q9Y6J6 |
STRINGi | 9606.ENSP00000290310 |
Miscellaneous databases
RNActi | Q9Y6J6, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | Q9Y6J6 |
SMRi | Q9Y6J6 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502S1GJ, Eukaryota |
GeneTreei | ENSGT00940000154497 |
HOGENOMi | CLU_1991831_0_0_1 |
InParanoidi | Q9Y6J6 |
OMAi | VTYMDNW |
OrthoDBi | 1493495at2759 |
PhylomeDBi | Q9Y6J6 |
TreeFami | TF336058 |
Family and domain databases
InterProi | View protein in InterPro IPR000369, K_chnl_KCNE IPR005425, K_chnl_volt-dep_bsu_KCNE2 |
PANTHERi | PTHR15282, PTHR15282, 1 hit |
Pfami | View protein in Pfam PF02060, ISK_Channel, 1 hit |
PRINTSi | PR01605, KCNE2CHANNEL |
i Sequence
Sequence statusi: Complete.
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
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_008375 | 8 | T → A2 PublicationsCorresponds to variant dbSNP:rs2234916EnsemblClinVar. | 1 | |
Natural variantiVAR_037794 | 8 | T → I. Corresponds to variant dbSNP:rs35759083Ensembl. | 1 | |
Natural variantiVAR_008376 | 9 | Q → E 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_074921 | 14 | V → I in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs142153692EnsemblClinVar. | 1 | |
Natural variantiVAR_074922 | 20 | I → N in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473363EnsemblClinVar. | 1 | |
Natural variantiVAR_037795 | 27 | R → 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_074923 | 27 | R → H in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs148968498EnsemblClinVar. | 1 | |
Natural variantiVAR_008377 | 54 | M → T in LQT6; forms I(KR) channels that deactivate twice as fast as wild type. 2 PublicationsCorresponds to variant dbSNP:rs74315447EnsemblClinVar. | 1 | |
Natural variantiVAR_008378 | 57 | I → T in LQT6; may affect KCNQ1/KCNE2 channel. 3 PublicationsCorresponds to variant dbSNP:rs74315448EnsemblClinVar. | 1 | |
Natural variantiVAR_029334 | 60 | F → L in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs16991654EnsemblClinVar. | 1 | |
Natural variantiVAR_074924 | 65 | V → L in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473364EnsemblClinVar. | 1 | |
Natural variantiVAR_015063 | 65 | V → M in LQT6. 1 PublicationCorresponds to variant dbSNP:rs199473364EnsemblClinVar. | 1 | |
Natural variantiVAR_022052 | 66 | A → V. Corresponds to variant dbSNP:rs16991656EnsemblClinVar. | 1 | |
Natural variantiVAR_074925 | 77 | R → Q in LQT6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473365EnsemblClinVar. | 1 | |
Natural variantiVAR_035386 | 77 | R → W in LQT6. 1 PublicationCorresponds to variant dbSNP:rs141423405EnsemblClinVar. | 1 | |
Natural variantiVAR_074926 | 94 | E → 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 |
CCDSi | CCDS13635.1 |
RefSeqi | NP_751951.1, NM_172201.1 |
Genome annotation databases
Ensembli | ENST00000290310; ENSP00000290310; ENSG00000159197 |
GeneIDi | 9992 |
KEGGi | hsa:9992 |
UCSCi | uc002ytt.2, human |
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 |
CCDSi | CCDS13635.1 |
RefSeqi | NP_751951.1, NM_172201.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2M0Q | NMR | - | A | 1-123 | [»] | |
BMRBi | Q9Y6J6 | |||||
SMRi | Q9Y6J6 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 115313, 3 interactors |
ComplexPortali | CPX-3073, Voltage-gated potassium channel complex variant 2 |
CORUMi | Q9Y6J6 |
STRINGi | 9606.ENSP00000290310 |
Chemistry databases
DrugBanki | DB00228, Enflurane DB01110, Miconazole DB01069, Promethazine |
PTM databases
GlyGeni | Q9Y6J6, 2 sites |
iPTMneti | Q9Y6J6 |
PhosphoSitePlusi | Q9Y6J6 |
Genetic variation databases
BioMutai | KCNE2 |
DMDMi | 6685661 |
Proteomic databases
PaxDbi | Q9Y6J6 |
PeptideAtlasi | Q9Y6J6 |
PRIDEi | Q9Y6J6 |
ProteomicsDBi | 86701 |
Protocols and materials databases
Antibodypediai | 22942, 165 antibodies |
DNASUi | 9992 |
Genome annotation databases
Ensembli | ENST00000290310; ENSP00000290310; ENSG00000159197 |
GeneIDi | 9992 |
KEGGi | hsa:9992 |
UCSCi | uc002ytt.2, human |
Organism-specific databases
CTDi | 9992 |
DisGeNETi | 9992 |
GeneCardsi | KCNE2 |
GeneReviewsi | KCNE2 |
HGNCi | HGNC:6242, KCNE2 |
HPAi | ENSG00000159197, Tissue enriched (stomach) |
MalaCardsi | KCNE2 |
MIMi | 603796, gene 611493, phenotype 613693, phenotype |
neXtProti | NX_Q9Y6J6 |
OpenTargetsi | ENSG00000159197 |
Orphaneti | 334, Familial atrial fibrillation 101016, Romano-Ward syndrome |
PharmGKBi | PA392 |
VEuPathDBi | HostDB:ENSG00000159197.3 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S1GJ, Eukaryota |
GeneTreei | ENSGT00940000154497 |
HOGENOMi | CLU_1991831_0_0_1 |
InParanoidi | Q9Y6J6 |
OMAi | VTYMDNW |
OrthoDBi | 1493495at2759 |
PhylomeDBi | Q9Y6J6 |
TreeFami | TF336058 |
Enzyme and pathway databases
PathwayCommonsi | Q9Y6J6 |
Reactomei | R-HSA-5576890, Phase 3 - rapid repolarisation R-HSA-5576893, Phase 2 - plateau phase |
Miscellaneous databases
BioGRID-ORCSi | 9992, 23 hits in 871 CRISPR screens |
ChiTaRSi | KCNE2, human |
GeneWikii | KCNE2 |
GenomeRNAii | 9992 |
Pharosi | Q9Y6J6, Tbio |
PROi | PR:Q9Y6J6 |
RNActi | Q9Y6J6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000159197, Expressed in body of stomach and 109 other tissues |
Genevisiblei | Q9Y6J6, HS |
Family and domain databases
InterProi | View protein in InterPro IPR000369, K_chnl_KCNE IPR005425, K_chnl_volt-dep_bsu_KCNE2 |
PANTHERi | PTHR15282, PTHR15282, 1 hit |
Pfami | View protein in Pfam PF02060, ISK_Channel, 1 hit |
PRINTSi | PR01605, KCNE2CHANNEL |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | KCNE2_HUMAN | |
Accessioni | Q9Y6J6Primary (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: | February 10, 2021 | |
This is version 178 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 21
Human chromosome 21: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families