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RYR2 Gene(Protein Coding)

Ryanodine Receptor 2

GCID:
GC01P237042
GIFtS:
55
Genes Participants
UDN Logo

Aliases for RYR2 Gene

Aliases for RYR2 Gene

  • Ryanodine Receptor 2 2 3 5
  • Cardiac Muscle Ryanodine Receptor-Calcium Release Channel 3 4
  • Ryanodine Receptor 2 (Cardiac) 2 3
  • Type 2 Ryanodine Receptor 3 4
  • RYR-2 3 4
  • Arrhythmogenic Right Ventricular Dysplasia 2 2
  • Cardiac Muscle Ryanodine Receptor 4
  • Cardiac-Type Ryanodine Receptor 3
  • Kidney-Type Ryanodine Receptor 3
  • Islet-Type Ryanodine Receptor 3
  • HRYR-2 4
  • ARVD2 3
  • ARVC2 3
  • VTSIP 3
  • RyR2 4
  • RYR 3

External Ids for RYR2 Gene

Previous HGNC Symbols for RYR2 Gene

  • ARVD2

Previous GeneCards Identifiers for RYR2 Gene

  • GC01P235338
  • GC01P232659
  • GC01P233502
  • GC01P234246
  • GC01P233531
  • GC01P237205
  • GC01P207662

Summaries for RYR2 Gene

Entrez Gene Summary for RYR2 Gene

  • 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]

GeneCards Summary for RYR2 Gene

RYR2 (Ryanodine Receptor 2) is a Protein Coding gene. Diseases associated with RYR2 include Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy and Arrhythmogenic Right Ventricular Dysplasia, Familial, 2. Among its related pathways are Cardiac conduction and Cell-type Dependent Selectivity of CCK2R Signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein kinase binding. An important paralog of this gene is RYR3.

UniProtKB/Swiss-Prot for RYR2 Gene

  • Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardiac arrhythmia. In cardiac myocytes, calcium release is triggered by increased Ca(2+) levels due to activation of the L-type calcium channel CACNA1C. The calcium channel activity is modulated by formation of heterotetramers with RYR3. Required for cellular calcium ion homeostasis. Required for embryonic heart development.

Gene Wiki entry for RYR2 Gene

Additional gene information for RYR2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RYR2 Gene

Genomics for RYR2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for RYR2 Gene

Promoters and enhancers for RYR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01I237042 Promoter/Enhancer 1.8 EPDnew Ensembl dbSUPER 550.8 0.0 -4 0.4 ARNT ZSCAN4 KLF17 ZNF2 RAD21 ZEB1 ZNF335 GLIS2 ZNF366 SCRT2 RYR2 MT1HL1
GH01I237043 Enhancer 1.1 FANTOM5 dbSUPER 570.4 +1.3 1290 0.4 ZSCAN4 ZNF76 ZNF2 ZNF335 ZNF366 ZEB2 ZNF843 ZFP41 KLF16 ZNF341 RYR2 ACTN2 PIR33590
GH01I237011 Enhancer 1.5 VISTA ENCODE dbSUPER 11.2 -29.8 -29823 2.3 FEZF1 ZNF2 ZNF766 GLIS2 ZNF213 ATF7 SP3 ZNF518A ZNF610 SMARCA4 HEATR1 ENSG00000230325 ENSG00000273058 RYR2 MT1HL1
GH01I236997 Enhancer 1.2 VISTA dbSUPER 11.3 -43.4 -43440 2.9 ZSCAN18 ZBTB21 ZNF697 ZNF335 ZNF121 ZNF664 ZNF791 ZNF354C POLR2A ZNF547 ENSG00000273058 ENSG00000230325 MTR HEATR1 RYR2 RPL35P1 GC01M236985 MT1HL1
GH01I237029 Enhancer 1.1 VISTA ENCODE dbSUPER 9.4 -11.2 -11246 3.6 USF1 FEZF1 ZIC2 HIC1 ZNF335 GLIS2 ZBTB48 PATZ1 ATF7 ZNF600 RYR2 ENSG00000273058 MT1HL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RYR2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RYR2 gene promoter:

Genomic Locations for RYR2 Gene

Genomic Locations for RYR2 Gene
chr1:237,042,205-237,833,988
(GRCh38/hg38)
Size:
791,784 bases
Orientation:
Plus strand
chr1:237,205,505-237,997,288
(GRCh37/hg19)

Genomic View for RYR2 Gene

Genes around RYR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RYR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RYR2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RYR2 Gene

Proteins for RYR2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for RYR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92736-RYR2_HUMAN
    Recommended name:
    Ryanodine receptor 2
    Protein Accession:
    Q92736
    Secondary Accessions:
    • Q15411
    • Q546N8
    • Q5T3P2

    Protein attributes for RYR2 Gene

    Size:
    4967 amino acids
    Molecular mass:
    564567 Da
    Quaternary structure:
    • Homotetramer. Can also form heterotetramers with RYR1 and RYR3 (By similarity). Interacts with FKBP1A and FKBP1B; these interactions may stabilize the channel in its closed state and prevent Ca(2+) leaks. Interacts with CALM and S100A1; these interactions regulate channel activity. Identified in a complex composed of RYR2, FKBP1B, PKA catalytic subunit, PRKAR2A, AKAP6, and the protein phosphatases PP2A and PP1. Interacts directly with FKBP1B, PKA, PP1 and PP2A. Interacts with SELENON (By similarity).
    SequenceCaution:
    • Sequence=CAH71369.1; Type=Miscellaneous discrepancy; Note=Erroneous gene model prediction.; Evidence={ECO:0000305}; Sequence=CAH71393.1; Type=Miscellaneous discrepancy; Note=Erroneous gene model prediction.; Evidence={ECO:0000305}; Sequence=CAH73918.1; Type=Miscellaneous discrepancy; Note=Erroneous gene model prediction.; Evidence={ECO:0000305}; Sequence=CAI14440.1; Type=Miscellaneous discrepancy; Note=Erroneous gene model prediction.; Evidence={ECO:0000305}; Sequence=CAI15350.1; Type=Miscellaneous discrepancy; Note=Erroneous gene model prediction.; Evidence={ECO:0000305}; Sequence=CAI15936.1; Type=Miscellaneous discrepancy; Note=Erroneous gene model prediction.; Evidence={ECO:0000305}; Sequence=CAI22065.1; Type=Miscellaneous discrepancy; Note=Erroneous gene model prediction.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RYR2 Gene

    Alternative splice isoforms for RYR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RYR2 Gene

Protein Expression for RYR2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RYR2 Gene

  • Channel activity is modulated by phosphorylation. Phosphorylation at Ser-2808 and Ser-2814 increases the open probability of the calcium channel. Phosphorylation is increased in failing heart, leading to calcium leaks and increased cytoplasmic Ca(2+) levels.
  • Phosphorylation at Ser-2031 by PKA enhances the response to lumenal calcium.

Other Protein References for RYR2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RYR2 Gene

Domains & Families for RYR2 Gene

Gene Families for RYR2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for RYR2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for RYR2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92736

UniProtKB/Swiss-Prot:

RYR2_HUMAN :
  • The calcium release channel activity resides in the C-terminal region while the remaining part of the protein resides in the cytoplasm.
  • Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR2 subfamily.
Domain:
  • The calcium release channel activity resides in the C-terminal region while the remaining part of the protein resides in the cytoplasm.
Family:
  • Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR2 subfamily.
genes like me logo Genes that share domains with RYR2: view

Function for RYR2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for RYR2 Gene

GENATLAS Biochemistry:
ryanodine receptor 2,controlling intracellular Ca2+ levels by releasing Ca2+ from the sarcoplasmic reticulum,expressed in skeletal and cardiac muscle
UniProtKB/Swiss-Prot EnzymeRegulation:
Channel activity is modulated by the alkaloid ryanodine that binds to the open Ca-release channel with high affinity. At low concentrations, ryanodine maintains the channel in an open conformation. High ryanodine concentrations inhibit channel activity. Channel activity is regulated by calmodulin (CALM). The calcium release is activated by increased cytoplasmic calcium levels, by nitric oxyde (NO), caffeine and ATP. Channel activity is inhibited by magnesium ions, possibly by competition for calcium binding sites.
UniProtKB/Swiss-Prot Function:
Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardiac arrhythmia. In cardiac myocytes, calcium release is triggered by increased Ca(2+) levels due to activation of the L-type calcium channel CACNA1C. The calcium channel activity is modulated by formation of heterotetramers with RYR3. Required for cellular calcium ion homeostasis. Required for embryonic heart development.
UniProtKB/Swiss-Prot Induction:
By TGFB1.

Phenotypes From GWAS Catalog for RYR2 Gene

Gene Ontology (GO) - Molecular Function for RYR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005219 ryanodine-sensitive calcium-release channel activity IEA,TAS --
GO:0005262 calcium channel activity IEA,ISS --
GO:0005509 calcium ion binding IBA,IEA --
GO:0005515 protein binding IPI 10830164
genes like me logo Genes that share ontologies with RYR2: view
genes like me logo Genes that share phenotypes with RYR2: view

Human Phenotype Ontology for RYR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RYR2 Gene

MGI Knock Outs for RYR2:

Animal Model Products

miRNA for RYR2 Gene

miRTarBase miRNAs that target RYR2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RYR2 Gene

Localization for RYR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RYR2 Gene

Sarcoplasmic reticulum membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein. Sarcoplasmic reticulum. Note=The number of predicted transmembrane domains varies between orthologs, but both N-terminus and C-terminus seem to be cytoplasmic. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RYR2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
cytosol 3
mitochondrion 2
nucleus 2
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RYR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005790 smooth endoplasmic reticulum IEA --
GO:0005886 plasma membrane ISS --
GO:0014701 junctional sarcoplasmic reticulum membrane TAS 17569730
GO:0016020 membrane IEA,IDA 12443530
genes like me logo Genes that share ontologies with RYR2: view

Pathways & Interactions for RYR2 Gene

genes like me logo Genes that share pathways with RYR2: view

Gene Ontology (GO) - Biological Process for RYR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia ISS --
GO:0002027 regulation of heart rate IMP,IEA 11159936
GO:0003143 embryonic heart tube morphogenesis IEA,ISS --
GO:0003220 left ventricular cardiac muscle tissue morphogenesis IEA,ISS --
GO:0003300 cardiac muscle hypertrophy IEA,ISS --
genes like me logo Genes that share ontologies with RYR2: view

No data available for SIGNOR curated interactions for RYR2 Gene

Drugs & Compounds for RYR2 Gene

Products:

  1. Drug

(29) Drugs for RYR2 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Caffeine Approved Nutra Antagonist, antagonist 434
Procaine Approved, Investigational, Vet_approved Pharma Channel blocker, antagonist 60
Suramin Approved, Investigational Pharma Antagonist, antagonist 18
calcium Approved Nutra 0
Magnesium Approved Nutra 0

(11) Additional Compounds for RYR2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for RYR2 Gene

Compound Action Cas Number
Chlorocresol 59-50-7
genes like me logo Genes that share compounds with RYR2: view

Drug Products

Transcripts for RYR2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for RYR2 Gene

(11) REFSEQ mRNAs :
(82) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RYR2 Gene

No ASD Table

Relevant External Links for RYR2 Gene

GeneLoc Exon Structure for
RYR2
ECgene alternative splicing isoforms for
RYR2

Expression for RYR2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RYR2 Gene

mRNA expression in normal human tissues for RYR2 Gene
mRNA expression by GTEx for RYR2 GenemRNA expression by BioGPS for RYR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RYR2 Gene

This gene is overexpressed in Heart - Left Ventricle (x22.0) and Heart - Atrial Appendage (x10.8).

Protein differential expression in normal tissues from HIPED for RYR2 Gene

This gene is overexpressed in Heart (29.6), Frontal cortex (11.1), and Fetal heart (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RYR2 Gene



NURSA nuclear receptor signaling pathways regulating expression of RYR2 Gene:

RYR2

SOURCE GeneReport for Unigene cluster for RYR2 Gene:

Hs.109514

mRNA Expression by UniProt/SwissProt for RYR2 Gene:

Q92736-RYR2_HUMAN
Tissue specificity: Detected in heart muscle (at protein level). Heart muscle, brain (cerebellum and hippocampus) and placenta.

Evidence on tissue expression from TISSUES for RYR2 Gene

  • Heart(4.9)
  • Muscle(4.8)
  • Nervous system(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RYR2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • red blood cell
genes like me logo Genes that share expression patterns with RYR2: view

No data available for Protein tissue co-expression partners for RYR2 Gene

Orthologs for RYR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RYR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia RYR2 33 34
  • 99.47 (n)
cow
(Bos Taurus)
 Mammalia RYR2 34
  • 96 (a)
 OneToOne
LOC537376 33
  • 91.42 (n)
oppossum
(Monodelphis domestica)
 Mammalia RYR2 34
  • 96 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia RYR2 33 34
  • 91.55 (n)
mouse
(Mus musculus)
 Mammalia Ryr2 33 16 34
  • 87.03 (n)
rat
(Rattus norvegicus)
 Mammalia Ryr2 33
  • 86.84 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia RYR2 34
  • 85 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves RYR2 33 34
  • 82.35 (n)
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 92 (a)
 OneToMany
-- 34
  • 91 (a)
 OneToMany
-- 34
  • 90 (a)
 OneToMany
-- 34
  • 68 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia ryr1 33
  • 67.12 (n)
zebrafish
(Danio rerio)
 Actinopterygii CABZ01065506.1 34
  • 99 (a)
 OneToMany
ryr2a 34
  • 98 (a)
 OneToMany
ryr1b 33
  • 66.42 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP010750 33
  • 54.76 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Rya-r44F 35 33
  • 54.32 (n)
worm
(Caenorhabditis elegans)
 Secernentea unc-68 35 33
  • 52.99 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.5494 33
Species where no ortholog for RYR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RYR2 Gene

ENSEMBL:
Gene Tree for RYR2 (if available)
TreeFam:
Gene Tree for RYR2 (if available)

Paralogs for RYR2 Gene

Paralogs for RYR2 Gene

(3) SIMAP similar genes for RYR2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with RYR2: view

Variants for RYR2 Gene

Sequence variations from dbSNP and Humsavar for RYR2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000043466 likely-benign, Catecholaminergic polymorphic ventricular tachycardia 237,726,287(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, synonymous_variant
rs1008224442 likely-benign, Catecholaminergic polymorphic ventricular tachycardia 237,788,108(+) A/G coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs1031049689 uncertain-significance, Catecholaminergic polymorphic ventricular tachycardia 237,674,122(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1040456396 uncertain-significance, Catecholaminergic polymorphic ventricular tachycardia 237,590,852(+) T/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1041429670 uncertain-significance, Catecholaminergic polymorphic ventricular tachycardia 237,707,111(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for RYR2 Gene

Variant ID Type Subtype PubMed ID
dgv157e212 CNV loss 25503493
dgv158e212 CNV loss 25503493
esv1451750 CNV insertion 17803354
esv1753526 CNV insertion 17803354
esv1756390 CNV insertion 17803354
esv2136360 CNV deletion 18987734
esv24945 CNV loss 19812545
esv2666294 CNV deletion 23128226
esv2666770 CNV deletion 23128226
esv2669499 CNV deletion 23128226
esv2670053 CNV deletion 23128226
esv2725585 CNV deletion 23290073
esv2725596 CNV deletion 23290073
esv2725607 CNV deletion 23290073
esv2725618 CNV deletion 23290073
esv2725629 CNV deletion 23290073
esv2725640 CNV deletion 23290073
esv2725651 CNV deletion 23290073
esv2725662 CNV deletion 23290073
esv2725673 CNV deletion 23290073
esv2725684 CNV deletion 23290073
esv2725696 CNV deletion 23290073
esv2725707 CNV deletion 23290073
esv2725718 CNV deletion 23290073
esv2759008 CNV gain 17122850
esv3306728 CNV mobile element insertion 20981092
esv3307698 CNV mobile element insertion 20981092
esv3307981 CNV mobile element insertion 20981092
esv3309777 CNV mobile element insertion 20981092
esv3342405 CNV insertion 20981092
esv3398643 CNV insertion 20981092
esv3436973 CNV insertion 20981092
esv3445581 CNV insertion 20981092
esv3549044 CNV deletion 23714750
esv3549077 CNV deletion 23714750
esv3578493 CNV loss 25503493
esv3589229 CNV loss 21293372
esv3589230 CNV loss 21293372
esv3589231 CNV loss 21293372
esv3589232 CNV loss 21293372
esv3589233 CNV loss 21293372
esv3589234 CNV loss 21293372
esv3589236 CNV loss 21293372
esv3891248 CNV loss 25118596
esv5892 OTHER inversion 19470904
esv8781 CNV gain 19470904
nsv1000577 CNV gain 25217958
nsv1000707 CNV gain 25217958
nsv1004084 CNV gain 25217958
nsv1006191 CNV gain 25217958
nsv1013771 CNV loss 25217958
nsv1110156 CNV duplication 24896259
nsv1110884 OTHER inversion 24896259
nsv1119766 CNV deletion 24896259
nsv1122463 CNV deletion 24896259
nsv1132324 CNV duplication 24896259
nsv1133143 CNV tandem duplication 24896259
nsv1140268 OTHER inversion 24896259
nsv1145408 CNV deletion 24896259
nsv1146579 CNV insertion 26484159
nsv159991 CNV deletion 16902084
nsv160537 CNV deletion 16902084
nsv160668 CNV insertion 16902084
nsv468506 CNV loss 19166990
nsv474127 CNV novel sequence insertion 20440878
nsv476901 CNV novel sequence insertion 20440878
nsv5032 CNV insertion 18451855
nsv516399 CNV loss 19592680
nsv520100 CNV loss 19592680
nsv521224 CNV loss 19592680
nsv523073 CNV loss 19592680
nsv524393 CNV loss 19592680
nsv549414 CNV loss 21841781
nsv549415 CNV gain 21841781
nsv820221 CNV gain 19587683
nsv827498 CNV gain 20364138
nsv827509 CNV loss 20364138
nsv832982 CNV gain 17160897
nsv8946 CNV gain 18304495
nsv954001 CNV deletion 24416366

Variation tolerance for RYR2 Gene

Residual Variation Intolerance Score: 0.0361% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.00; 80.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RYR2 Gene

Human Gene Mutation Database (HGMD)
RYR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RYR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RYR2 Gene

Disorders for RYR2 Gene

MalaCards: The human disease database

(34) MalaCards diseases for RYR2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RYR2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RYR2_HUMAN
  • Arrhythmogenic right ventricular dysplasia, familial, 2 (ARVD2) [MIM:600996]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269 PubMed:11159936}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1) [MIM:604772]: An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT1 inheritance is autosomal dominant. {ECO:0000269 PubMed:11157710, ECO:0000269 PubMed:11208676, ECO:0000269 PubMed:12093772, ECO:0000269 PubMed:12106942, ECO:0000269 PubMed:14571276, ECO:0000269 PubMed:15046072, ECO:0000269 PubMed:15046073, ECO:0000269 PubMed:15466642, ECO:0000269 PubMed:15544015, ECO:0000269 PubMed:16188589, ECO:0000269 PubMed:17984046, ECO:0000269 PubMed:24793461, ECO:0000269 PubMed:25372681, ECO:0000269 PubMed:27733687}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RYR2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for RYR2 Gene

Publications for RYR2 Gene

  1. Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. (PMID: 16188589) Tester DJ … Ackerman MJ (Heart rhythm 2005) 3 4 22 44 58
  2. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). (PMID: 11159936) Tiso N … Rampazzo A (Human molecular genetics 2001) 2 3 4 22 58
  3. Common RyR2 variants associate with ventricular arrhythmias and sudden cardiac death in chronic heart failure. (PMID: 20408814) Ran Y … Pu J (Clinical science (London, England : 1979) 2010) 3 22 44 58
  4. The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. (PMID: 19926015) Medeiros-Domingo A … Ackerman MJ (Journal of the American College of Cardiology 2009) 3 22 44 58
  5. Composite polymorphisms in the ryanodine receptor 2 gene associated with arrhythmogenic right ventricular cardiomyopathy. (PMID: 16769042) Milting H … Varsányi M (Cardiovascular research 2006) 3 22 44 58

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