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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
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
  • a C-terminus having only minimal influences on KCNQ1
    • 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
  • KCNE1 and KCNE2 cleavages are regulated by BACE1 and PSEN1/gamma-secretase activities under physiological conditions
  • 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)