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FLASH GENE
Symbol KCNE2 contributors: mct/npt - updated : 26-04-2017
HGNC name potassium voltage-gated channel, Isk-related family, member 2
HGNC id 6242
Corresponding disease
ATFB5 atrial fibrillation, familal, 5
LQT6 long QT syndrome with ventricular tachyarrhythmia, type 6
Location 21q22.11      Physical location : 35.736.322 - 35.743.440
Synonym name
  • mink-related peptide 1
  • minimum potassium ion channel-related peptide 1
  • voltage-gated K+ channel subunit MIRP1
  • Synonym symbol(s) MINKR1, MIRP1, LQT5, MGC138292
    DNA
    TYPE functioning gene
    STRUCTURE 7.12 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see SOD1
    Physical map
    IFNAR2 21q22.1 interferon (alpha, beta and omega) receptor 2 IL10RB 21q22.1-q22.2 interleukin 10 receptor, beta IFNAR1 21q22.1 interferon (alpha, beta and omega) receptor 1 IFNGR2 21q22.1 interferon gamma receptor 2 (interferon gamma transducer 1) C21orf4 21q22.1-q22.2 chromosome 21 open reading frame 4 RPS5L 21q22.11 ribosomal protein S5-like C21orf55 21q22.11 chromosome 21 open reading frame 55 GART 21q22.1 phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase SON 21q22.1-q22.2 SON DNA binding protein DONSON 21q22.1 downstream neighbor of SON CRYZL1 21q22.1 crystallin, zeta (quinone reductase)-like 1 ITSN1 21q22.1-q22.2 intersectin 1 (SH3 domain protein) ATP5O 21q22.1-q22.2 ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (oligomycin sensitivity conferring protein) LOC388819 21 similar to GNGT1 protein MRPS6 21q21.3-q22.1 mitochondrial ribosomal protein S6 SLC5A3 21q22.1 solute carrier family 5 (inositol transporters), member 3 C21orf82 21q22.1 chromosome 21 open reading frame 82 KCNE2 21q22.12 potassium voltage-gated channel, Isk-related family, member 2 C21orf51 21q22.12 chromosome 21 open reading frame 51 LOC388820 21 hypothetical gene supported by BC049386 KCNE1 21q22.2 potassium voltage-gated channel, Isk-related family, member 1 DSCR1 21q22.1-q22.2 Down syndrome critical region gene 1 CLIC6 21q22.12 chloride intracellular channel 6 RUNX1 21q22.1-q22.3 runt-related transcription factor 1 (acute myeloid leukemia 1; AML1 oncogene) C21orf96 21q22.12 chromosome 21 open reading frame 96
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 809 - 123 - Tinel (2000)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Digestiveintestinelarge intestinecolon highly
    Endocrinepancreas   highly
     thyroid   highly
    Reproductivefemale systemovary  lowly
     male systemtestis  lowly
     male systemprostate  lowly
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrinethyroid cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two N-linked glycosylation sites
  • a single transmembrane segment
  • consensus sequences for two protein kinase C-mediated phosphorylation sites
  • mono polymer heteromer , tetramer
    HOMOLOGY
    interspecies homolog to murine Kcne1
    Homologene
    FAMILY
  • potassium channel KCNE family
  • Isk-related subfamily member (IRK)
  • CATEGORY motor/contractile , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume
  • having a role as a membrane-spanning subunit within voltage-gated potassium channel complexes (Abbott 2008)
  • can associate with the KCNQ1-KCNE1 complex to suppress the current amplitude without altering the slow gating kinetics (Jiang 2009)
  • in cardiac myocytes, control cardiac slow delayed rectifier (IKs) channel current amplitude in the cell membrane (Jiang 2009)
  • required for normal thyroid hormone biosynthesis (Roepke 2009)
  • potassium channel subunits KCNQ1 and KCNE2 form a thyroid-stimulating hormone–stimulated, constitutively active, thyrocyte K+ channel required for normal thyroid hormone biosynthesis (Roepke 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heterotetramers KCNH2/KCNE2, KCNQ1/KCNE2
  • heteromeric channels KCNQ1/KCNE2—originally recognized for their functional roles in repolarizing cardiac myocytes—form a constitutively active K+ channel in thyrocytes (Roepke 2009)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associating with KCNH2 (HERG) to generate a rapid delayed-rectifier channel (differing from the channel exclusively made of KCNH2), central to the control of the heart rate and rhythm
  • interacting with KCNQ1 resulting in a drastic change of current amplitude and gating properties
  • influences blood-cerebrospinal fluid anion flux by regulating KCNQ1 and KCNA3 in the choroid plexus epithelium
  • conductance and dynamics of KCNQ1 could be modulated by different single transmembrane helical auxiliary proteins (such as KCNE1, KCNE2)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LQT6 , ATFB5
    related resource Gene Connection for the Heart - Long QT Syndrome database
    Long QT Syndrome Database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    cardiac KCNE2 transcript levels are approximately 10-fold upregulated at the end of pregnancy
    Susceptibility
  • to atrial fibrillation and arythmia
  • to antibiotic-induced cardiac arrhythmia
  • Variant & Polymorphism SNP
  • increasing the arrhythmia risk
  • potassium currents inhibited by sulfamethoxazole at therapeutic levels
  • Candidate gene
    Marker
    Therapy target semispecific, reversible pharmacological targeting of the KCNQ1-KCNE2 complex to treat thyroid disease (Roepke 2009)
    ANIMAL & CELL MODELS
    Kcne2-deficient mice had hypothyroidism, dwarfism, alopecia, goiter and cardiac abnormalities including hypertrophy, fibrosis, and reduced fractional shortening (Roepke 2009)