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Q9Y6J6

- KCNE2_HUMAN

UniProt

Q9Y6J6 - KCNE2_HUMAN

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
  1. 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

    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

    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

    ArrayExpressiQ9Y6J6.
    BgeeiQ9Y6J6.
    CleanExiHS_KCNE2.
    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 51-100.
    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.
    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

    MSTLSNFTQT LEDVFRRIFI TYMDNWRQNT TAEQEALQAK VDAENFYYVI    50
    LYLMVMIGMF SFIIVAILVS TVKSKRREHS NDPYHQYIVE DWQEKYKSQI 100
    LNLEESKATI HENIGAAGFK MSP 123
    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 51-100.
    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.
    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

    ArrayExpressi Q9Y6J6.
    Bgeei Q9Y6J6.
    CleanExi HS_KCNE2.
    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

    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 1, 2014
    This is version 133 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