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Aliases for RYR2 Gene

Aliases for RYR2 Gene

  • Ryanodine Receptor 2 2 3
  • Ryanodine Receptor 2 (Cardiac) 2 3 5
  • Cardiac Muscle Ryanodine Receptor-Calcium Release Channel 3 4
  • 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 and arrhythmogenic right ventricular dysplasia 2. Among its related pathways are cGMP-PKG signaling pathway and Hypertrophic cardiomyopathy (HCM). GO annotations related to this gene include calcium ion binding and protein kinase binding. An important paralog of this gene is RYR1.

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

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

Genomics for RYR2 Gene

Regulatory Elements for RYR2 Gene

Enhancers for RYR2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RYR2 on UCSC Golden Path with GeneCards custom track

Genomic Location for RYR2 Gene

Chromosome:
1
Start:
237,042,205 bp from pter
End:
237,833,988 bp from pter
Size:
791,784 bases
Orientation:
Plus strand

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 StructureGene Density

RefSeq DNA sequence for RYR2 Gene

Proteins for RYR2 Gene

  • 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 SEPN1 (By similarity).
    Miscellaneous:
    • 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 (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

Proteomics data for RYR2 Gene at MOPED

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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RYR2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for RYR2 Gene

Domains & Families for RYR2 Gene

Gene Families for RYR2 Gene

Suggested Antigen Peptide Sequences for RYR2 Gene

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.
  • Contains 3 B30.2/SPRY domains.
  • Contains 5 MIR domains.
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

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 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.

Gene Ontology (GO) - Molecular Function for RYR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005262 calcium channel activity IEA,ISS --
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

CRISPR Products

miRNA for RYR2 Gene

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
Jensen Localization Image for RYR2 Gene COMPARTMENTS Subcellular localization image for RYR2 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 5
extracellular 5
plasma membrane 5
nucleus 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for RYR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005829 cytosol ISS --
GO:0016021 integral component of membrane IEA --
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:0003300 cardiac muscle hypertrophy IEA,ISS --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA,IDA 17921453
GO:0010882 regulation of cardiac muscle contraction by calcium ion signaling IMP 17875969
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Caffeine Approved Nutra Antagonist, antagonist 349
Procaine Approved, Investigational Pharma Channel blocker, antagonist 43
Suramin Approved Pharma Antagonist, antagonist 18
cerivastatin Withdrawn Pharma Competitive, Inhibitor 0
Ryanodine Pharma Channel blocker Ca2+ relase inhibitor 0

(14) Additional Compounds for RYR2 Gene - From: Tocris and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dantrolene, sodium salt
14663-23-1
JTV 519 fumarate
Suramin hexasodium salt
129-46-4

(5) Tocris Compounds for RYR2 Gene

Compound Action Cas Number
Dantrolene, sodium salt Ca2+ release inhibitor 14663-23-1
JTV 519 fumarate Ryanodine receptor (RyR) inhibitor
Ruthenium Red Non-selective Ca2+ channel blocker (N- and P-type) 11103-72-3
Ryanodine Ca2+ relase inhibitor 15662-33-6
Suramin hexasodium salt Non-selective P2 antagonist 129-46-4

(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

Transcripts for RYR2 Gene

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

mRNA expression in normal human tissues 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



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.
genes like me logo Genes that share expression patterns with RYR2: view

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia LOC537376 35
  • 91.42 (n)
  • 98.11 (a)
RYR2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RYR2 35
  • 91.55 (n)
  • 98.3 (a)
RYR2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ryr2 35
  • 87.03 (n)
  • 97.36 (a)
Ryr2 16
Ryr2 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RYR2 35
  • 99.47 (n)
  • 99.92 (a)
RYR2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ryr2 35
  • 86.84 (n)
  • 97.21 (a)
oppossum
(Monodelphis domestica)
Mammalia RYR2 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RYR2 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves RYR2 35
  • 82.35 (n)
  • 93.75 (a)
RYR2 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 90 (a)
OneToMany
-- 36
  • 91 (a)
OneToMany
-- 36
  • 92 (a)
OneToMany
-- 36
  • 68 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ryr1 35
  • 67.12 (n)
  • 69.29 (a)
zebrafish
(Danio rerio)
Actinopterygii ryr1b 35
  • 66.42 (n)
  • 68.88 (a)
CABZ01065506.1 36
  • 99 (a)
OneToMany
ryr2a 36
  • 98 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rya-r44F 37
  • 58 (a)
Rya-r44F 35
  • 54.32 (n)
  • 49.21 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010750 35
  • 54.76 (n)
  • 51.92 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-68 37
  • 42 (a)
unc-68 35
  • 52.99 (n)
  • 47.1 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5494 35
Species with no ortholog for RYR2:
  • 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 Sequence Context AA Info Type
VAR_011395 Arrhythmogenic right ventricular dysplasia, familial, 2 (ARVD2)
VAR_011395 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1)
VAR_011396 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1)
VAR_011397 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy (CPVT1)
VAR_011398 Arrhythmogenic right ventricular dysplasia, familial, 2 (ARVD2)

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

Variant ID Type Subtype PubMed ID
nsv873334 CNV Loss 21882294
esv2670053 CNV Deletion 23128226
nsv468506 CNV Loss 19166990
nsv832982 CNV Gain 17160897
nsv520100 CNV Loss 19592680
nsv521224 CNV Loss 19592680
esv2669499 CNV Deletion 23128226
nsv516399 CNV Loss 19592680
nsv5032 CNV Insertion 18451855
esv2666294 CNV Deletion 23128226
nsv873335 CNV Loss 21882294
nsv160668 CNV Insertion 16902084
esv1753526 CNV Insertion 17803354
esv2725585 CNV Deletion 23290073
esv271004 CNV Insertion 20981092
esv274049 CNV Insertion 20981092
nsv873336 CNV Loss 21882294
nsv873337 CNV Loss 21882294
nsv523073 CNV Loss 19592680
esv2725596 CNV Deletion 23290073
nsv524393 CNV Loss 19592680
esv2725607 CNV Deletion 23290073
nsv873338 CNV Loss 21882294
nsv873339 CNV Gain 21882294
esv1451750 CNV Insertion 17803354
nsv873340 CNV Loss 21882294
esv2725618 CNV Deletion 23290073
esv2725629 CNV Deletion 23290073
esv2725640 CNV Deletion 23290073
esv2136360 CNV Deletion 18987734
esv2725651 CNV Deletion 23290073
nsv159991 CNV Loss 16902084
esv2725662 CNV Deletion 23290073
nsv160537 CNV Loss 16902084
esv24945 CNV Loss 19812545
esv2725673 CNV Deletion 23290073
esv2725684 CNV Deletion 23290073
esv2725696 CNV Deletion 23290073
esv2725707 CNV Deletion 23290073
esv2725718 CNV Deletion 23290073
esv2666770 CNV Deletion 23128226
nsv827498 CNV Gain 20364138
nsv873341 CNV Loss 21882294
esv8781 CNV Gain 19470904
dgv193e1 CNV Complex 17122850
nsv820221 CNV Gain 19587683
esv1756390 CNV Insertion 17803354
nsv8946 CNV Gain 18304495
esv271972 CNV Insertion 20981092
esv272255 CNV Insertion 20981092
nsv827509 CNV Loss 20364138

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)

Relevant External Links for RYR2 Gene

HapMap Linkage Disequilibrium report
RYR2
Human Gene Mutation Database (HGMD)
RYR2

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

Disorders for RYR2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ventricular tachycardia, catecholaminergic polymorphic, 1
  • bidirectional tachycardia
arrhythmogenic right ventricular dysplasia 2
  • arvd2
catecholaminergic polymorphic ventricular tachycardia
  • ventricular tachycardia, catecholaminergic polymorphic, 1
ventricular tachycardia, catecholaminergic polymorphic, 2
  • ventricular tachycardia, catecholaminergic polymorphic, 1
ventricular tachycardia, catecholaminergic polymorphic, 4
  • bidirectional tachycardia
- 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. {ECO:0000269 PubMed:11157710, ECO:0000269 PubMed:12093772, ECO:0000269 PubMed:12106942, ECO:0000269 PubMed:15046072, ECO:0000269 PubMed:15046073, ECO:0000269 PubMed:15466642, ECO:0000269 PubMed:15544015}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RYR2

Genetic Association Database (GAD)
RYR2
Human Genome Epidemiology (HuGE) Navigator
RYR2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RYR2
genes like me logo Genes that share disorders with RYR2: view

No data available for Genatlas for RYR2 Gene

Publications for RYR2 Gene

  1. 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. (Hum. Mol. Genet. 2001) 2 3 4 23 67
  2. Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes. (PMID: 8406504) Otsu K. … MacLennan D.H. (Genomics 1993) 2 3 23
  3. Common RyR2 variants associate with ventricular arrhythmias and sudden cardiac death in chronic heart failure. (PMID: 20408814) Ran Y. … Pu J. (Clin. Sci. 2010) 3 23
  4. Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia. (PMID: 19216760) Marjamaa A. … Swan H. (BMC Med. Genet. 2009) 3 23
  5. 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 M.J. (J. Am. Coll. Cardiol. 2009) 3 23

Products for RYR2 Gene

Sources for RYR2 Gene

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