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Q9Y6J6

- KCNE2_HUMAN

UniProt

Q9Y6J6 - KCNE2_HUMAN

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Protein

Potassium voltage-gated channel subfamily E member 2

Gene

KCNE2

Organism
Homo sapiens (Human)
Status
Reviewed - 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. 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.

GO - Molecular functioni

  1. delayed rectifier potassium channel activity Source: Ensembl
  2. inward rectifier potassium channel activity Source: Ensembl
  3. ion channel binding Source: BHF-UCL
  4. potassium channel regulator activity Source: BHF-UCL
  5. voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization Source: BHF-UCL

GO - Biological processi

  1. aging Source: Ensembl
  2. cardiac muscle cell action potential involved in contraction Source: BHF-UCL
  3. cellular protein localization Source: Ensembl
  4. cellular response to drug Source: BHF-UCL
  5. membrane repolarization Source: BHF-UCL
  6. membrane repolarization during action potential Source: BHF-UCL
  7. positive regulation of proteasomal protein catabolic process Source: BHF-UCL
  8. potassium ion export Source: BHF-UCL
  9. potassium ion import Source: BHF-UCL
  10. potassium ion transmembrane transport Source: BHF-UCL
  11. regulation of cyclic nucleotide-gated ion channel activity Source: Ensembl
  12. regulation of delayed rectifier potassium channel activity Source: BHF-UCL
  13. regulation of heart rate by cardiac conduction Source: BHF-UCL
  14. regulation of inward rectifier potassium channel activity Source: BHF-UCL
  15. regulation of membrane repolarization Source: BHF-UCL
  16. regulation of potassium ion transmembrane transport Source: BHF-UCL
  17. regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL
  18. tongue development Source: Ensembl
  19. 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

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
ProteomesiUP000005640: Chromosome 21

Organism-specific databases

HGNCiHGNC:6242. KCNE2.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti9 – 91Q → E in LQT6; impedes activation and increases sensitivity to macrolide antibiotics; may lower current in KCNQ1/KCNE2 channel. 1 Publication
Corresponds to variant rs16991652 [ dbSNP | Ensembl ].
VAR_008376
Natural varianti54 – 541M → T in LQT6; forms I(KR) channels that deactivate twice as fast as wild type. 1 Publication
VAR_008377
Natural varianti57 – 571I → T in LQT6; may affect KCNQ1/KCNE2 channel. 2 Publications
Corresponds to variant rs74315448 [ dbSNP | Ensembl ].
VAR_008378
Natural varianti60 – 601F → L in LQT6; may be a rare polymorphism. 1 Publication
Corresponds to variant rs16991654 [ dbSNP | Ensembl ].
VAR_029334
Natural varianti65 – 651V → M in LQT6. 1 Publication
VAR_015063
Natural varianti77 – 771R → W in LQT6. 1 Publication
VAR_035386
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti27 – 271R → C in ATFB4; gain-of-function mutation associated with the initiation and/or maintenance of AF. 1 Publication
VAR_037795

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi75 – 751K → H: Increases tail current in KCNH2/KCNE2 channel. 1 Publication

Keywords - Diseasei

Atrial fibrillation, Disease mutation, Long QT syndrome

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 123123Potassium voltage-gated channel subfamily E member 2PRO_0000144285Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi6 – 61N-linked (GlcNAc...)Sequence Analysis
Glycosylationi29 – 291N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PRIDEiQ9Y6J6.

PTM databases

PhosphoSiteiQ9Y6J6.

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

BgeeiQ9Y6J6.
CleanExiHS_KCNE2.
ExpressionAtlasiQ9Y6J6. baseline and differential.
GenevestigatoriQ9Y6J6.

Organism-specific databases

HPAiCAB022640.

Interactioni

Subunit structurei

Associates with KCNH2/ERG1. May associate with KCNQ1/KVLQT1, KCNQ2 and KCNQ3. Associates with HCN1 and probably HCN2 By similarity.By similarity

Protein-protein interaction databases

BioGridi115313. 2 interactions.
STRINGi9606.ENSP00000290310.

Structurei

Secondary structure

1
123
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi3 – 3836
Helixi46 – 7429
Helixi88 – 11427

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2M0QNMR-A1-123[»]
ProteinModelPortaliQ9Y6J6.
SMRiQ9Y6J6. Positions 1-123.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini70 – 12354CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei49 – 6921HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Belongs to the potassium channel KCNE family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG43841.
GeneTreeiENSGT00510000048894.
HOGENOMiHOG000113208.
HOVERGENiHBG052227.
InParanoidiQ9Y6J6.
KOiK04896.
OMAiNWRRNTT.
OrthoDBiEOG7WDN4J.
PhylomeDBiQ9Y6J6.
TreeFamiTF336058.

Family and domain databases

InterProiIPR000369. K_chnl_volt-dep_bsu_KCNE.
IPR005424. K_chnl_volt-dep_bsu_KCNE1.
IPR005425. K_chnl_volt-dep_bsu_KCNE2.
[Graphical view]
PANTHERiPTHR17028. PTHR17028. 1 hit.
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81T → A.2 Publications
Corresponds to variant rs2234916 [ dbSNP | Ensembl ].
VAR_008375
Natural varianti8 – 81T → I.
Corresponds to variant rs35759083 [ dbSNP | Ensembl ].
VAR_037794
Natural varianti9 – 91Q → E in LQT6; impedes activation and increases sensitivity to macrolide antibiotics; may lower current in KCNQ1/KCNE2 channel. 1 Publication
Corresponds to variant rs16991652 [ dbSNP | Ensembl ].
VAR_008376
Natural varianti27 – 271R → C in ATFB4; gain-of-function mutation associated with the initiation and/or maintenance of AF. 1 Publication
VAR_037795
Natural varianti54 – 541M → T in LQT6; forms I(KR) channels that deactivate twice as fast as wild type. 1 Publication
VAR_008377
Natural varianti57 – 571I → T in LQT6; may affect KCNQ1/KCNE2 channel. 2 Publications
Corresponds to variant rs74315448 [ dbSNP | Ensembl ].
VAR_008378
Natural varianti60 – 601F → L in LQT6; may be a rare polymorphism. 1 Publication
Corresponds to variant rs16991654 [ dbSNP | Ensembl ].
VAR_029334
Natural varianti65 – 651V → M in LQT6. 1 Publication
VAR_015063
Natural varianti66 – 661A → V.
Corresponds to variant rs16991656 [ dbSNP | Ensembl ].
VAR_022052
Natural varianti77 – 771R → W in LQT6. 1 Publication
VAR_035386

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.1. human.

Polymorphism databases

DMDMi6685661.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UniGenei Hs.551521.
Hs.736062.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2M0Q NMR - A 1-123 [» ]
ProteinModelPortali Q9Y6J6.
SMRi Q9Y6J6. Positions 1-123.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115313. 2 interactions.
STRINGi 9606.ENSP00000290310.

PTM databases

PhosphoSitei Q9Y6J6.

Polymorphism databases

DMDMi 6685661.

Proteomic databases

PRIDEi Q9Y6J6.

Protocols and materials databases

DNASUi 9992.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000290310 ; ENSP00000290310 ; ENSG00000159197 .
GeneIDi 9992.
KEGGi hsa:9992.
UCSCi uc002ytt.1. human.

Organism-specific databases

CTDi 9992.
GeneCardsi GC21P035736.
GeneReviewsi KCNE2.
HGNCi HGNC:6242. KCNE2.
HPAi CAB022640.
MIMi 603796. gene.
611493. phenotype.
613693. phenotype.
neXtProti NX_Q9Y6J6.
Orphaneti 334. Familial atrial fibrillation.
101016. Romano-Ward syndrome.
PharmGKBi PA392.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG43841.
GeneTreei ENSGT00510000048894.
HOGENOMi HOG000113208.
HOVERGENi HBG052227.
InParanoidi Q9Y6J6.
KOi K04896.
OMAi NWRRNTT.
OrthoDBi EOG7WDN4J.
PhylomeDBi Q9Y6J6.
TreeFami TF336058.

Miscellaneous databases

GeneWikii KCNE2.
GenomeRNAii 9992.
NextBioi 37747.
PROi Q9Y6J6.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y6J6.
CleanExi HS_KCNE2.
ExpressionAtlasi Q9Y6J6. baseline and differential.
Genevestigatori Q9Y6J6.

Family and domain databases

InterProi IPR000369. K_chnl_volt-dep_bsu_KCNE.
IPR005424. K_chnl_volt-dep_bsu_KCNE1.
IPR005425. K_chnl_volt-dep_bsu_KCNE2.
[Graphical view ]
PANTHERi PTHR17028. PTHR17028. 1 hit.
Pfami PF02060. ISK_Channel. 1 hit.
[Graphical view ]
PRINTSi PR01605. KCNE2CHANNEL.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia."
    Abbott G.W., Sesti F., Splawski I., Buck M.E., Lehmann M.H., Timothy K.W., Keating M.T., Goldstein S.A.N.
    Cell 97:175-187(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS LQT6 GLU-9; THR-54 AND THR-57, VARIANT ALA-8, INTERACTION WITH KCNH2.
    Tissue: Heart.
  2. "Cloning of human MIRP1 cDNA."
    Domenech A., Estivill X., de la Luna S.
    Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. NHLBI resequencing and genotyping service (RS&G)
    Submitted (JUN-2006) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  6. "M-type KCNQ2-KCNQ3 potassium channels are modulated by the KCNE2 subunit."
    Tinel N., Diochot S., Lauritzen I., Barhanin J., Lazdunski M., Borsotto M.
    FEBS Lett. 480:137-141(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: ASSOCIATION WITH KCNQ2/KCNQ3, TISSUE SPECIFICITY.
  7. "KCNE2 confers background current characteristics to the cardiac KCNQ1 potassium channel."
    Tinel N., Diochot S., Borsotto M., Lazdunski M., Barhanin J.
    EMBO J. 19:6326-6330(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: ASSOCIATION WITH KCNQ1.
  8. "Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism."
    Abbott G.W., Goldstein S.A.N.
    FASEB J. 16:390-400(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: MUTAGENESIS OF LYS-75.
  9. "Identification and functional characterization of a novel KCNE2 (MiRP1) mutation that alters HERG channel kinetics."
    Isbrandt D., Friederich P., Solth A., Haverkamp W., Ebneth A., Borggrefe M., Funke H., Sauter K., Breithardt G., Pongs O., Schulze-Bahr E.
    J. Mol. Med. 80:524-532(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LQT6 MET-65.
  10. "Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation."
    Yang Y., Xia M., Jin Q., Bendahhou S., Shi J., Chen Y., Liang B., Lin J., Liu Y., Liu B., Zhou Q., Zhang D., Wang R., Ma N., Su X., Niu K., Pei Y., Xu W.
    , Chen Z., Wan H., Cui J., Barhanin J., Chen Y.
    Am. J. Hum. Genet. 75:899-905(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ATFB4 CYS-27, CHARACTERIZATION OF VARIANT ATFB4 CYS-27.
  11. "Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome."
    Millat G., Chevalier P., Restier-Miron L., Da Costa A., Bouvagnet P., Kugener B., Fayol L., Gonzalez Armengod C., Oddou B., Chanavat V., Froidefond E., Perraudin R., Rousson R., Rodriguez-Lafrasse C.
    Clin. Genet. 70:214-227(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LQT6 THR-57; LEU-60 AND TRP-77, VARIANT ALA-8.

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: October 29, 2014
This is version 134 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

External Data

Dasty 3