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    RYR2 ryanodine receptor 2 [ Homo sapiens (human) ]

    Gene ID: 6262, updated on 19-Nov-2017
    Official Symbol
    RYR2provided by HGNC
    Official Full Name
    ryanodine receptor 2provided by HGNC
    Primary source
    HGNC:HGNC:10484
    See related
    Ensembl:ENSG00000198626 MIM:180902; Vega:OTTHUMG00000039543
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RyR; ARVC2; ARVD2; RYR-2; VTSIP
    Summary
    This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    1q43
    Exon count:
    107
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (237042208..237833988)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (237205510..237997288)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985368 Neighboring gene ribosomal protein L35 pseudogene 1 Neighboring gene metallothionein 1H like 1 Neighboring gene RNA, 7SK small nuclear pseudogene 195 Neighboring gene microRNA 4428 Neighboring gene POTE ankyrin domain family, member F pseudogene Neighboring gene mitochondrially encoded cytochrome c oxidase I pseudogene 38 Neighboring gene zona pellucida glycoprotein 4

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in RYR2 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2015-11-05)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2015-11-05)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
    NHGRI GWA Catalog
    Cerivastatin, genetic variants, and the risk of rhabdomyolysis.
    NHGRI GWA Catalog
    Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.
    NHGRI GWA Catalog
    Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.
    NHGRI GWA Catalog
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    NHGRI GWA Catalog
    Germline genomic variants associated with childhood acute lymphoblastic leukemia.
    NHGRI GWA Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat activates RyRs via a calcium- and calpain-mediated mechanism that upregulates DAT trafficking to the PM PubMed
    tat Neurons exposed to HIV-1 Tat induces calcium loss from the endoplasmic reticulum via ryanodine receptor (RyR) and increases the phosphorylated levels of PERK, eIF2a, and XBP1 PubMed

    Go to the HIV-1, Human Interaction Database

    • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Apelin signaling pathway, organism-specific biosystem (from KEGG)
      Apelin signaling pathway, organism-specific biosystemApelin is an endogenous peptide capable of binding the apelin receptor (APJ), which was originally described as an orphan G-protein-coupled receptor. Apelin and APJ are widely expressed in various ti...
    • Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystem (from WikiPathways)
      Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
      Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
    • Calcium signaling pathway, organism-specific biosystem (from KEGG)
      Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Calcium signaling pathway, conserved biosystem (from KEGG)
      Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Cardiac conduction, organism-specific biosystem (from REACTOME)
      Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
    • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
      Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Cardiac muscle contraction, conserved biosystem (from KEGG)
      Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Cell-type Dependent Selectivity of CCK2R Signaling, organism-specific biosystem (from WikiPathways)
      Cell-type Dependent Selectivity of CCK2R Signaling, organism-specific biosystemThis pathway is based on Figure 7 of "Cell-Type Specific CCK2 Receptor Signaling Underlies the Cholecystokinin-Mediated Selective Excitation of Hippocampal Parvalbumin-Positive Fast-Spiking Basket Ce...
    • Circadian entrainment, organism-specific biosystem (from KEGG)
      Circadian entrainment, organism-specific biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
    • Circadian entrainment, conserved biosystem (from KEGG)
      Circadian entrainment, conserved biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Insulin secretion, organism-specific biosystem (from KEGG)
      Insulin secretion, organism-specific biosystemPancreatic beta cells are specialised endocrine cells that continuously sense the levels of blood sugar and other fuels and, in response, secrete insulin to maintain normal fuel homeostasis. Glucose-...
    • Ion channel transport, organism-specific biosystem (from REACTOME)
      Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
    • Ion homeostasis, organism-specific biosystem (from REACTOME)
      Ion homeostasis, organism-specific biosystemIon channel homeostasis in relation to cardiac conduction is described in this section (Couette et al. 2006, Bartos et al. 2015).
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • Myometrial Relaxation and Contraction Pathways, organism-specific biosystem (from WikiPathways)
      Myometrial Relaxation and Contraction Pathways, organism-specific biosystemThis pathway illustrates signaling networks implicated in uterine muscle contraction at labor and quiescence throughout gestation (pregnancy). The muscle of the uterus, responsible for contractile ac...
    • Oxytocin signaling pathway, organism-specific biosystem (from KEGG)
      Oxytocin signaling pathway, organism-specific biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
    • Oxytocin signaling pathway, conserved biosystem (from KEGG)
      Oxytocin signaling pathway, conserved biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
    • Pancreatic secretion, organism-specific biosystem (from KEGG)
      Pancreatic secretion, organism-specific biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
    • Pancreatic secretion, conserved biosystem (from KEGG)
      Pancreatic secretion, conserved biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
    • Stimuli-sensing channels, organism-specific biosystem (from REACTOME)
      Stimuli-sensing channels, organism-specific biosystemIon channels that mediate sensations such as pain, warmth, cold, taste pressure and vision. Channels that mediate these sensations include acid-sensing ion channels (ASICs) (Wang & Xu 2011, Qadri et ...
    • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
      Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • cAMP signaling pathway, organism-specific biosystem (from KEGG)
      cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
    • cAMP signaling pathway, conserved biosystem (from KEGG)
      cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    calcium-induced calcium release activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium-release channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium-release channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    calmodulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calmodulin binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    calmodulin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    calmodulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ion channel binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase A catalytic subunit binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein kinase A regulatory subunit binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein self-association IEA
    Inferred from Electronic Annotation
    more info
     
    ryanodine-sensitive calcium-release channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ryanodine-sensitive calcium-release channel activity TAS
    Traceable Author Statement
    more info
     
    suramin binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Purkinje myocyte to ventricular cardiac muscle cell signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    calcium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium ion transport into cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium-mediated signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    calcium-mediated signaling using intracellular calcium source IDA
    Inferred from Direct Assay
    more info
    PubMed 
    canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cardiac muscle hypertrophy ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell communication by electrical coupling involved in cardiac conduction IC
    Inferred by Curator
    more info
     
    cellular calcium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to caffeine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to caffeine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to epinephrine stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to epinephrine stimulus TAS
    Traceable Author Statement
    more info
    PubMed 
    detection of calcium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    embryonic heart tube morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    establishment of protein localization to endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    left ventricular cardiac muscle tissue morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of calcium-transporting ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of heart rate ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of sequestering of calcium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of the force of heart contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of AV node cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of SA node cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of atrial cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cardiac conduction TAS
    Traceable Author Statement
    more info
     
    regulation of cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cardiac muscle contraction by calcium ion signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion IC
    Inferred by Curator
    more info
    PubMed 
    regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of cytosolic calcium ion concentration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of heart rate IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of ventricular cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    release of sequestered calcium ion into cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    release of sequestered calcium ion into cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    release of sequestered calcium ion into cytosol by sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to caffeine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to hypoxia ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to muscle activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to muscle stretch IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to redox state IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcoplasmic reticulum calcium ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    type B pancreatic cell apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ventricular cardiac muscle cell action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    calcium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    junctional sarcoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sarcoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    smooth endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    ryanodine receptor 2
    Names
    cardiac muscle ryanodine receptor-calcium release channel
    cardiac-type ryanodine receptor
    islet-type ryanodine receptor
    kidney-type ryanodine receptor
    ryanodine receptor 2 (cardiac)
    type 2 ryanodine receptor

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008799.2 RefSeqGene

      Range
      5001..796587
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001035.2NP_001026.2  ryanodine receptor 2

      See identical proteins and their annotated locations for NP_001026.2

      Status: REVIEWED

      Source sequence(s)
      AI218003, AL359924, AL365332, AL442065, X98330
      Consensus CDS
      CCDS55691.1
      UniProtKB/Swiss-Prot
      Q92736
      Related
      ENSP00000355533.2, OTTHUMP00000037535, ENST00000366574.6, OTTHUMT00000095402
      Conserved Domains (13) summary
      smart00472
      Location:286376
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      cd12877
      Location:654805
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10861218
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      pfam00520
      Location:47184878
      Ion_trans; Ion transport protein
      pfam01365
      Location:455643
      RYDR_ITPR; RIH domain
      pfam02026
      Location:27012791
      RyR; RyR domain
      pfam02815
      Location:226406
      MIR; MIR domain
      pfam06459
      Location:43334599
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38353948
      RIH_assoc; RyR and IP3R Homology associated
      pfam13499
      Location:40304087
      EF-hand_7; EF-hand domain pair
      cd12879
      Location:14121558
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      cl08302
      Location:40304085
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cl19745
      Location:9216
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      237042208..237833988
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006711802.3XP_006711865.1  ryanodine receptor 2 isoform X1

      Conserved Domains (13) summary
      smart00472
      Location:286376
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      cd12877
      Location:654805
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10861218
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      pfam00520
      Location:47364896
      Ion_trans; Ion transport protein
      pfam01365
      Location:455643
      RYDR_ITPR; RIH domain
      pfam02026
      Location:27112801
      RyR; RyR domain
      pfam02815
      Location:226406
      MIR; MIR domain
      pfam06459
      Location:43514617
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38533966
      RIH_assoc; RyR and IP3R Homology associated
      pfam13499
      Location:40484105
      EF-hand_7; EF-hand domain pair
      cd12879
      Location:14121568
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      cl08302
      Location:40484103
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cl19745
      Location:9216
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    2. XM_006711810.3XP_006711873.1  ryanodine receptor 2 isoform X10

      Conserved Domains (13) summary
      smart00472
      Location:286376
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      cd12877
      Location:654805
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10851217
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      pfam00520
      Location:47054865
      Ion_trans; Ion transport protein
      pfam01365
      Location:455643
      RYDR_ITPR; RIH domain
      pfam02026
      Location:27002790
      RyR; RyR domain
      pfam02815
      Location:226406
      MIR; MIR domain
      pfam06459
      Location:43204586
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38223935
      RIH_assoc; RyR and IP3R Homology associated
      pfam13499
      Location:40174074
      EF-hand_7; EF-hand domain pair
      cd12879
      Location:14111557
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      cl08302
      Location:40174072
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cl19745
      Location:9216
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    3. XM_006711804.3XP_006711867.1  ryanodine receptor 2 isoform X4

      Conserved Domains (13) summary
      smart00472
      Location:286376
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      cd12877
      Location:654805
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10861218
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      pfam00520
      Location:47284888
      Ion_trans; Ion transport protein
      pfam01365
      Location:455643
      RYDR_ITPR; RIH domain
      pfam02026
      Location:27112801
      RyR; RyR domain
      pfam02815
      Location:226406
      MIR; MIR domain
      pfam06459
      Location:43434609
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38453958
      RIH_assoc; RyR and IP3R Homology associated
      pfam13499
      Location:40404097
      EF-hand_7; EF-hand domain pair
      cd12879
      Location:14121568
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      cl08302
      Location:40404095
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cl19745
      Location:9216
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    4. XM_006711806.3XP_006711869.1  ryanodine receptor 2 isoform X6

      Conserved Domains (13) summary
      smart00472
      Location:286376
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      cd12877
      Location:654805
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10861218
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      pfam00520
      Location:47244884
      Ion_trans; Ion transport protein
      pfam01365
      Location:455643
      RYDR_ITPR; RIH domain
      pfam02026
      Location:27112801
      RyR; RyR domain
      pfam02815
      Location:226406
      MIR; MIR domain
      pfam06459
      Location:43394605
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38413954
      RIH_assoc; RyR and IP3R Homology associated
      pfam13499
      Location:40364093
      EF-hand_7; EF-hand domain pair
      cd12879
      Location:14121568
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      cl08302
      Location:40364091
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cl19745
      Location:9216
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    5. XM_006711807.3XP_006711870.1  ryanodine receptor 2 isoform X7

      Conserved Domains (13) summary
      smart00472
      Location:286376
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      cd12877
      Location:654805
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10861218
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      pfam00520
      Location:47164876
      Ion_trans; Ion transport protein
      pfam01365
      Location:455643
      RYDR_ITPR; RIH domain
      pfam02026
      Location:27112801
      RyR; RyR domain
      pfam02815
      Location:226406
      MIR; MIR domain
      pfam06459
      Location:43314597
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38333946
      RIH_assoc; RyR and IP3R Homology associated
      pfam13499
      Location:40284085
      EF-hand_7; EF-hand domain pair
      cd12879
      Location:14121568
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      cl08302
      Location:40284083
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cl19745
      Location:9216
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    6. XM_006711808.3XP_006711871.1  ryanodine receptor 2 isoform X8

      Conserved Domains (13) summary
      smart00472
      Location:286376
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      cd12877
      Location:654805
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10861218
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      pfam00520
      Location:46574817
      Ion_trans; Ion transport protein
      pfam01365
      Location:455643
      RYDR_ITPR; RIH domain
      pfam02026
      Location:27112801
      RyR; RyR domain
      pfam02815
      Location:226406
      MIR; MIR domain
      pfam06459
      Location:42724538
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:37743887
      RIH_assoc; RyR and IP3R Homology associated
      pfam13499
      Location:39694026
      EF-hand_7; EF-hand domain pair
      cd12879
      Location:14121568
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      cl08302
      Location:39694024
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cl19745
      Location:9216
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    7. XM_006711805.3XP_006711868.1  ryanodine receptor 2 isoform X5

      UniProtKB/Swiss-Prot
      Q92736
      Conserved Domains (13) summary
      smart00472
      Location:286376
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      cd12877
      Location:654805
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10861218
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      pfam00520
      Location:47264886
      Ion_trans; Ion transport protein
      pfam01365
      Location:455643
      RYDR_ITPR; RIH domain
      pfam02026
      Location:27012791
      RyR; RyR domain
      pfam02815
      Location:226406
      MIR; MIR domain
      pfam06459
      Location:43414607
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38433956
      RIH_assoc; RyR and IP3R Homology associated
      pfam13499
      Location:40384095
      EF-hand_7; EF-hand domain pair
      cd12879
      Location:14121558
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      cl08302
      Location:40384093
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cl19745
      Location:9216
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    8. XM_006711803.3XP_006711866.1  ryanodine receptor 2 isoform X2

      Conserved Domains (13) summary
      smart00472
      Location:286376
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      cd12877
      Location:654805
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10851217
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      pfam00520
      Location:47354895
      Ion_trans; Ion transport protein
      pfam01365
      Location:455643
      RYDR_ITPR; RIH domain
      pfam02026
      Location:27102800
      RyR; RyR domain
      pfam02815
      Location:226406
      MIR; MIR domain
      pfam06459
      Location:43504616
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38523965
      RIH_assoc; RyR and IP3R Homology associated
      pfam13499
      Location:40474104
      EF-hand_7; EF-hand domain pair
      cd12879
      Location:14111567
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      cl08302
      Location:40474102
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cl19745
      Location:9216
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    9. XM_017002028.1XP_016857517.1  ryanodine receptor 2 isoform X3

    10. XM_006711809.3XP_006711872.1  ryanodine receptor 2 isoform X9

      Conserved Domains (8) summary
      smart00472
      Location:286376
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      cd12877
      Location:654805
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10861218
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      pfam01365
      Location:455643
      RYDR_ITPR; RIH domain
      pfam02026
      Location:862951
      RyR; RyR domain
      pfam02815
      Location:226406
      MIR; MIR domain
      cd12879
      Location:14121568
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      cl19745
      Location:9216
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

    RNA

    1. XR_949152.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      238478098..239269604
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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