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FLASH GENE
Symbol RYR2 contributors: SGE/npt - updated : 28-03-2018
HGNC name ryanodine receptor 2 (cardiac)
HGNC id 10484
Corresponding disease
ARVD2 arrhythmogenic right ventricular dysplasia, familial, 2
VTSIP1 ventricular tachycardia stress-induced polymorphic 1
Location 1q43      Physical location : 237.205.701 - 237.997.288
Synonym name
  • cardiac muscle ryanodine receptor-calcium release channel
  • cardiac muscle-type ryanodine receptor
  • Synonym symbol(s) VTSIP, RYR-2, ARVC2, ARVD2, RyR
    DNA
    TYPE functioning gene
    STRUCTURE 791.60 kb     105 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D1S1759E - D1S1568 - RYR2 - D1S2330E - D1S2597 - qter
    Physical map
    TOMM20 1q42 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) KIAA0117 1q42.3 KIAA0117 protein RBP1L1 1q42.1-q43 retinoblastoma binding protein 1-like 1 GGPS1 1q43 geranylgeranyl diphosphate synthase 1 TBCE 1q42.3 tubulin-specific chaperone e MGC39558 1q42.3 hypothetical protein MGC39558 GNG4 1q42.3 guanine nucleotide binding protein (G protein), gamma 4 CHS1 1q42.1-q42.2 Chediak-Higashi syndrome 1 NID 1q43 nidogen (enactin) LOC343508 1q42.3 similar to aconitase 2 TM7SF1 1q42-q43 transmembrane 7 superfamily member 1 (upregulated in kidney) ERO1LB 1q42.2-q43 ERO1-like beta (S. cerevisiae) EDARADD 1q42.3 EDAR-associated death domain ENO1P 1q41-q42 enolase 1, (alpha) pseudogene LGALS8 1q42-q43 lectin, galactoside-binding, soluble, 8 (galectin 8) FLJ10359 1q42.3 protein BAP28 ACTN2 1q42-q43 actinin, alpha 2 MTR 1q43 5-methyltetrahydrofolate-homocysteine methyltransferase LOC388754 1 similar to 60S ribosomal protein L35 RYR2 1q42.1-q43 ryanodine receptor 2 (cardiac) ZP4 1q43 zona pellucida glycoprotein 4 LOC391178 1 hypothetical gene supported by AL122093 LOC391179 1 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    105 - 16365 565 4967 - 2017 28237968
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Nervousbrain   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneT cell Homo sapiens
    Muscularmyocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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