Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol RYR3 contributors: SGE/npt - updated : 28-03-2018
HGNC name ryanodine receptor 3
HGNC id 10485
Corresponding disease
NEM12 nemaline myopathy 12
Location 15q13.3      Physical location : 33.603.176 - 34.158.302
Synonym name
  • brain-type ryanodine receptor
  • brain ryanodine receptor-calcium release channel
  • Synonym symbol(s) HBRR
    DNA
    TYPE functioning gene
    STRUCTURE 555.33 kb     104 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Physical map
    LOC388107 15 similar to hyperpolarization activated cyclic nucleotide-gated potassium channel 2; brain cyclic nucleotide gated channel 2 LOC390562 15 similar to Dynamin-1 (D100) (Dynamin, brain) (B-dynamin) LOC161719 15q13.2 similar to hypothetical protein FLJ35785 LOC388108 15 similar to FLJ20574 protein LOC390563 15 similar to golgin-67 isoform c LOC390564 15 similar to neuronal nicotinic acetylcholine receptor beta4 subunit LOC338978 15q13.2 similar to M-phase phosphoprotein 10 LOC283719 15q13.2 similar to KIAA1971 protein LOC388109 15 similar to hypothetical protein FLJ35785 ARHGAP11A 15q13.2 similar to human GTPase-activating protein SGNE1 15q13-q14 secretory granule, neuroendocrine protein 1 (7B2 protein) CKTSF1B1 15q13-q15 cysteine knot superfamily 1, BMP antagonist 1 LOC388110 15 similar to 4930563P21Rik protein RYR3 15q15 ryanodine receptor 3 AVEN 15q13.1 apoptosis, caspase activation inhibitor CHRM5 15q26 cholinergic receptor, muscarinic 5 LOC56851 15q13.2 chromosome 15 hypothetical ATG/GTP binding protein PGBD4 15q13.1 piggyBac transposable element derived 4 FLJ22557 15q13.2 hypothetical protein FLJ22557 LOC51234 15q13.2 hypothetical protein LOC51234 SLC12A6 15q13 solute carrier family 12 (potassium/chloride transporters), member 6 NOLA3 15q14-q15 nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs) LOC254531 15q13.2 PlSC domain containing hypothetical protein GOLGIN-67 15q11.2 PlSC domain containing hypothetical protein LOC390565 15 LOC390565 LOC390566 15 similar to amyloid beta A4 precursor protein-binding, family A, member 2; neuronal munc18-1-interacting protein 2; X11-like protein; phosphotyrosine-binding/-interacting domain (PTB)-bearing protein; neuron-specific X11L protein; ad LOC145990 15q13.2 similar to Heterogeneous nuclear ribonucleoprotein L
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    104 - 15563 552 4870 - 1997 9384575
    103 - 15575 - 4865 - 1997 9384575
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
     vesselsaorta   
    Digestivepharynx   highly
    Endocrineadrenal gland   highly
    Nervousbrainlimbic systemhippocampus highly
     brainbasal nucleicaudate nucleus highly Homo sapiens
     brainbasal nucleicorpus callosum lowly Homo sapiens
     braindiencephalonamygdala highly
     braindiencephalonhypothalamus  
     braindiencephalonthalamus  
     brainbasal nucleistriatum  
     brainmidbrainsubstantia nigra lowly
    Reproductivemale systemtestis    Homo sapiens
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatum    Homo sapiensFetal
    Muscularstriatum    Homo sapiensAdult
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneT cell Homo sapiens
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
  • presence of RYR3 in the acrosomal region of mature sperm
  • at STAGE
    physiological period neonatal
    Text neonatal skeletal muscle in aorta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a large cytoplasmic domain (the foot region) including a consensus site for ATP binding
  • five MIR domains
  • four transmembrane segments (4TM)
  • a short cytoplasmic C terminal, forming a homotetramer bound to FK506 binding proteins
  • three 3 b30.2/SPRY domains
  • an EF-Hand domain
  • conjugated GlycoP
    mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to murine Ryr3 (96.3pc)
    Homologene
    FAMILY
  • ryanodine receptor family
  • CATEGORY receptor , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • involved in special form of hippocampal synaptic plasticity (for adaptation of acquired memory flexibility to environmental changes)
  • is a very potent source of voltage-independent Ca2+ release activity
  • binding site for the 12 kDa FK506-binding protein, encompassing the critical valine proline motif, plays a crucial role in the modulation of the Ca2+ release properties RYR3 channel, including the regulation of both global Ca2+ responses and spontaneous Ca2+ sparks
  • with SERCA2A (ATP2A2 variant A) is involved in vasoconstriction in pulmonary arterial smooth muscle (Clark 2010)
  • intracellular calcium ion release channel responsible for the release of Ca2+ from intracellular stores following transduction of many different extracellular stimuli
  • communication between transverse-tubules and sarcoplamsic reticulum
  • contraction of skeletal muscle is triggered by release of calcium ions from sarcoplasmic reticulum following depolarization of T-tubules
  • RYR1, RYR2, RYR3 strongly regulate Ca2+ influx in human T cells
  • because SOCE regulates a variety of Ca2+-dependent T cell responses, RYR1, RYR2, RYR3 are in a position to control vital T cell functions
  • 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
  • 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
  • functions to release stored endoplasmic reticulum calcium ions (Ca2+) to increase intracellular Ca2+ concentration
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    calcium release channel
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • coexpressed with ITPR3 in neurons
  • interaction between FKBP1A and RYR1, RYR3 and ITPR1
  • RYR1, RYR2, RYR3 regulate SOCE by controlling Ca2+ store refilling
  • TPP2 can regulate sperm maturation by modulating intracellular Ca(2+) stores via RYR3
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NEM12
    Susceptibility
  • to severe epileptic encephalopathies
  • to hypertension, diabetes and Alzheimer disease
  • Variant & Polymorphism SNP , other
  • causative role of RYR3 mutations in severe epileptic encephalopathies
  • three SNPs (rs2033610, rs2596164, and rs2278317) are significantly associated with risk for hypertension, diabetes and AD
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS