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    RYR2 ryanodine receptor 2 [ Homo sapiens (human) ]

    Gene ID: 6262, updated on 5-May-2024

    Summary

    Official Symbol
    RYR2provided by HGNC
    Official Full Name
    ryanodine receptor 2provided by HGNC
    Primary source
    HGNC:HGNC:10484
    See related
    Ensembl:ENSG00000198626 MIM:180902; AllianceGenome:HGNC:10484
    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; VACRDS
    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]
    Expression
    Biased expression in heart (RPKM 47.0) and brain (RPKM 4.2) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    1q43
    Exon count:
    107
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (237042184..237833988)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (236453199..237245297)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (237205484..237997288)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985368 Neighboring gene VISTA enhancer hs2137 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:237173080-237174075 Neighboring gene VISTA enhancer hs2138 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:237179824-237180353 Neighboring gene MPRA-validated peak789 silencer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:237238747-237239412 Neighboring gene metallothionein 1H like 1 Neighboring gene RN7SK pseudogene 195 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:237451188-237452387 Neighboring gene microRNA 4428 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:237753258-237754457 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:237947411-237948610 Neighboring gene NANOG hESC enhancer GRCh37_chr1:238017684-238018245 Neighboring gene POTE ankyrin domain family, member F pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:238089816-238090316 Neighboring gene NANOG hESC enhancer GRCh37_chr1:238104193-238104856 Neighboring gene MT-CO1 pseudogene 38 Neighboring gene zona pellucida glycoprotein 4

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    EBI GWAS Catalog

    Description
    A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
    EBI GWAS Catalog
    Cerivastatin, genetic variants, and the risk of rhabdomyolysis.
    EBI GWAS 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.
    EBI GWAS Catalog
    Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.
    EBI GWAS Catalog
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    EBI GWAS Catalog
    Germline genomic variants associated with childhood acute lymphoblastic leukemia.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

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

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008799.3 RefSeqGene

      Range
      5001..796805
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_402

    mRNA and Protein(s)

    1. NM_001035.3NP_001026.2  ryanodine receptor 2

      See identical proteins and their annotated locations for NP_001026.2

      Status: REVIEWED

      Source sequence(s)
      AI218003, AL359924, AL365332, AL391809, AL442065, X98330
      Consensus CDS
      CCDS55691.1
      UniProtKB/Swiss-Prot
      Q15411, Q546N8, Q5T3P2, Q92736
      UniProtKB/TrEMBL
      A0A590UJZ8
      Related
      ENSP00000355533.2, ENST00000366574.7
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      237042184..237833988
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006711802.4XP_006711865.1  ryanodine receptor 2 isoform X1

      UniProtKB/TrEMBL
      A0A590UJZ8
      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_006711804.4XP_006711867.1  ryanodine receptor 2 isoform X4

      UniProtKB/TrEMBL
      A0A590UJZ8
      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
    3. XM_006711806.4XP_006711869.1  ryanodine receptor 2 isoform X7

      UniProtKB/TrEMBL
      A0A590UJZ8
      Related
      ENSP00000499653.3, ENST00000659194.3
      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
    4. XM_006711807.4XP_006711870.1  ryanodine receptor 2 isoform X8

      UniProtKB/TrEMBL
      A0A590UJZ8
      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
    5. XM_006711808.4XP_006711871.1  ryanodine receptor 2 isoform X9

      UniProtKB/TrEMBL
      A0A590UJZ8
      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
    6. XM_047427333.1XP_047283289.1  ryanodine receptor 2 isoform X11

    7. XM_047427336.1XP_047283292.1  ryanodine receptor 2 isoform X12

    8. XM_006711805.4XP_006711868.1  ryanodine receptor 2 isoform X5

      UniProtKB/TrEMBL
      A0A590UJZ8
      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
    9. XM_047427329.1XP_047283285.1  ryanodine receptor 2 isoform X10

    10. XM_047427337.1XP_047283293.1  ryanodine receptor 2 isoform X13

    11. XM_047427341.1XP_047283297.1  ryanodine receptor 2 isoform X14

    12. XM_006711803.4XP_006711866.1  ryanodine receptor 2 isoform X2

      UniProtKB/TrEMBL
      A0A590UJZ8
      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
    13. XM_047427317.1XP_047283273.1  ryanodine receptor 2 isoform X6

    14. XM_006711810.4XP_006711873.1  ryanodine receptor 2 isoform X15

      UniProtKB/TrEMBL
      A0A590UJZ8
      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
    15. XM_017002028.2XP_016857517.1  ryanodine receptor 2 isoform X3

      UniProtKB/TrEMBL
      A0A590UJZ8

    RNA

    1. XR_007062490.1 RNA Sequence

    2. XR_002957299.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      236453199..237245297
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338092.1XP_054194067.1  ryanodine receptor 2 isoform X1

    2. XM_054338095.1XP_054194070.1  ryanodine receptor 2 isoform X4

    3. XM_054338098.1XP_054194073.1  ryanodine receptor 2 isoform X7

    4. XM_054338099.1XP_054194074.1  ryanodine receptor 2 isoform X8

    5. XM_054338100.1XP_054194075.1  ryanodine receptor 2 isoform X9

    6. XM_054338102.1XP_054194077.1  ryanodine receptor 2 isoform X11

    7. XM_054338103.1XP_054194078.1  ryanodine receptor 2 isoform X12

    8. XM_054338096.1XP_054194071.1  ryanodine receptor 2 isoform X5

    9. XM_054338101.1XP_054194076.1  ryanodine receptor 2 isoform X10

    10. XM_054338104.1XP_054194079.1  ryanodine receptor 2 isoform X13

    11. XM_054338105.1XP_054194080.1  ryanodine receptor 2 isoform X14

    12. XM_054338093.1XP_054194068.1  ryanodine receptor 2 isoform X2

    13. XM_054338097.1XP_054194072.1  ryanodine receptor 2 isoform X6

    14. XM_054338106.1XP_054194081.1  ryanodine receptor 2 isoform X15

    15. XM_054338094.1XP_054194069.1  ryanodine receptor 2 isoform X3

    RNA

    1. XR_008486136.1 RNA Sequence

    2. XR_008486137.1 RNA Sequence