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RYR2 ryanodine receptor 2 [ Homo sapiens (human) ]

Gene ID: 6262, updated on 8-Jul-2018
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]
Expression
Biased expression in heart (RPKM 47.0) and brain (RPKM 4.2) See more
Orthologs
See RYR2 in Genome Data Viewer
Location:
1q43
Exon count:
107
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 VISTA enhancer hs2138 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 MT-CO1 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
PubMed 
calcium-induced calcium release activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Z disc IDA
Inferred from Direct Assay
more info
PubMed 
Z disc ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
sarcoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 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 X9

    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

RNA

  1. XR_949152.2 RNA Sequence

  2. XR_002957299.1 RNA Sequence

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