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FLASH GENE
Symbol RYR2 contributors: SGE/npt - updated : 28-03-2018
HGNC name ryanodine receptor 2 (cardiac)
HGNC id 10484
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal region is involved in the activation and termination of Ca(2+) release
  • a large cytoplasmic domain (the foot region) including a consensus site for ATP binding
  • four transmembrane (4TM) segments
  • a short cytoplasmic C terminal, forming a homotetramer bound to FK506 binding proteins
  • mono polymer tetramer
    HOMOLOGY
    interspecies homolog to murine Ryr2 (97.5pc)
    Homologene
    FAMILY
  • ryanodine receptor family
  • CATEGORY receptor , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • controlling intracellular Ca2+ levels by releasing Ca2+ from the myocardial sarcoplasmic reticulum and required for excitation-contraction coupling in cardiac muscle
  • playing a determinant role in the treshold for store-overloaded-induced calcium release and consequently for the sarcoplasmic calcium content
  • with SERCA2A (ATP2A2 variant A) is involved in vasoconstriction in pulmonary arterial smooth muscle (Clark 2010)
  • neuronal RYR2 remodeling contributes to stress-induced cognitive dysfunction
  • RYR1, RYR2, RYR3 strongly regulate Ca2+ influx in human T cells
  • RYR1, RYR2, RYR3 are important regulators of Ca2+ signaling and Ca2+-dependent functions in human immune cells, which could be potentially used as a tool for modulating immune responses
  • RTN1 and RYR2 might act as functional partners in the regulation of cytosolic Ca(2+) dynamics the in neurons
  • in cardiomyocytes, RYR2-dependent Ca2+ release is critical for excitation-contraction coupling
  • RYR2 channels play a crucial role in the regulation of insulin secretion and glucose homeostasis
  • RYR2 plays an essential role in excitation-contraction coupling in cardiac muscle cells
  • leaky RYR2, but not ITPR2, channels cause mitochondrial Ca2+ overload and dysfunction in heart failure
  • intracellular calcium channel responsible for rapid release of Ca(2+) from the sarcoplasmic/endoplasmic reticulum (SR/ER) to the cytoplasm, which is essential for the excitation-contraction (E-C) coupling of cardiac and skeletal muscles
  • RYR2 controls mitochondrial Ca2+ dynamics and plays a specific, critical role in promoting glucose oxidation in cardiomyocytes
  • high-conductance intracellular calcium (Ca2+) channel that controls the release of Ca2+ from the sarco(endo)plasmic reticulum of a variety of cells
  • main Ca2+ release channel from sarcoplasmic reticulum in cardiomyocytes, playing a vital role in the regulation of myocardial contractile function and cardiac hypertrophy
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with FKBP1B (to stabilize RYR2)
  • RYR1, RYR2, RYR3 regulate SOCE by controlling Ca2+ store refilling
  • because SOCE regulates a variety of Ca2+-dependent T cell responses, RYR1, RYR2, RYR3 are in a position to control vital T cell functions
  • RYR2 is a direct binding partner of RTN1, and RTN1 and RYR2 might act as functional partners in the regulation of cytosolic Ca(2+) dynamics the in neurons
  • RYR2-mediated Ca2+ release is responsible for the activation and modulation of small-conductance Ca2+-activated K+ channels (SK channels) in cardiac myocytes
  • CASQ2, HRC and RYR2 share the same KEKE motif region on the distal part of TRDN (aa 202-231)
  • CALM1 and S100A1 can concurrently bind to and functionally modulate RYR1 and RYR2, but this does not involve direct competition at the RYR CALM binding site
  • direct interaction exists between RYR2 and CASQ2
  • RYR2 in mechanical stretch could promote the development of cardiac fibrosis involving TGFB1-dependent paracrine mechanism
  • cell & other
    REGULATION
    Other function regulated by highly conserved signaling pathways that modulate excitation-contraction (EC) coupling
    ASSOCIATED DISORDERS
    corresponding disease(s) ARVD2 , VTSIP1
    related resource Gene Connection for the Heart - Catecholaminergic Polymorphic Ventricular Tachycardia database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS