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
External Ids for RYR2 Gene
- HGNC: 10484
- Entrez Gene: 6262
- Ensembl: ENSG00000198626
- OMIM: 180902
- UniProtKB: Q92736
Previous HGNC Symbols for RYR2 Gene
- ARVD2
Previous GeneCards Identifiers for RYR2 Gene
- GC01P235338
- GC01P232659
- GC01P233502
- GC01P234246
- GC01P233531
- GC01P237205
- GC01P207662
Summaries 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.
Additional gene information for RYR2 Gene
- Monarch Initiative
- Search for RYR2 at DataMed
- Search for RYR2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RYR2 Gene
Genomics for RYR2 Gene
GeneHancer (GH) Regulatory Elements for RYR2 Gene
Regulatory Element Products
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
- Cytogenetic band:
-
- 1q43 by Ensembl
- 1q43 by Entrez Gene
- 1q43 by HGNC


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
- 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};
Protein Expression for RYR2 Gene
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:
Antibody Products
-
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Cloud-Clone Corp. Assay Kits for RYR2
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Recommended
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
Q92736UniProtKB/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.
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 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
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 |
Phenotypes for RYR2 Gene
- MGI mutant phenotypes for RYR2:
-
inferred from 26 alleles
- nervous system phenotype
- normal phenotype
- homeostasis/metabolism phenotype
- muscle phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- neoplasm
- endocrine/exocrine gland phenotype
- embryo phenotype
- hematopoietic system phenotype
- renal/urinary system phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for RYR2:
-
- Increased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
- Decreased viability in esophageal squamous lineage
- Dynamic nuclei (hole, folded or small irregular)
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Synthetic lethal with vaccinia virus (VACV) infection
Animal Models for RYR2 Gene
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for RYR2 gene
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- Overview of 61 available RYR2 gene related products
- Applied Biological Materials CRISPR for RYR2
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Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RYR2
- GenScript: Design CRISPR guide RNA sequences for RYR2
miRNA for RYR2 Gene
- miRTarBase miRNAs that target RYR2
miRNA Products
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Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RYR2
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- Overview of 61 available RYR2 gene related products
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ViGene Biosciences ready-to-package AAV shRNAs for RYR2 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for RYR2
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for RYR2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
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Horizon Cell Lines for RYR2
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ViGene Biosciences adenoviral particle packaged cDNA for RYR2 gene
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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}.
- Cytosol (2)
- Nucleoplasm (2)
- Plasma membrane (2)
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 |
Pathways & Interactions for RYR2 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activation of cAMP-Dependent PKA |
.77
|
.56
|
2 | Cardiac conduction |
.39
|
|
3 | Aldosterone synthesis and secretion | ||
4 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) | ||
5 | Dilated cardiomyopathy (DCM) |
Pathways by source for RYR2 Gene
5 BioSystems pathways for RYR2 Gene
6 Reactome pathways for RYR2 Gene
2 PharmGKB pathways for RYR2 Gene
12 KEGG pathways for RYR2 Gene
1 GeneGo (Thomson Reuters) pathway for RYR2 Gene
9 Qiagen pathways for RYR2 Gene
Interacting Proteins 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 | -- |
No data available for SIGNOR curated interactions for RYR2 Gene
Drugs & Compounds for RYR2 Gene
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
(1) ApexBio Compounds for RYR2 Gene
Compound | Action | Cas Number |
---|---|---|
Chlorocresol | 59-50-7 |
Transcripts for RYR2 Gene
mRNA/cDNA for RYR2 Gene
- (11) REFSEQ mRNAs :
- (82) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
- Browse CRISPR knockouts for RYR2
- genomics-online: gRNA clones - Search results for 61 available RYR2 gene related products
- Overview of 61 available RYR2 gene related products
- Applied Biological Materials CRISPR for RYR2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RYR2
- GenScript: Design CRISPR guide RNA sequences for RYR2
miRNA Products
- Search ViGene Biosciences for RYR2
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RYR2
- Browse OriGene Inhibitory RNA Products For RYR2
- genomics-online: shRNA clones - Search results for 61 available RYR2 gene related products
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ViGene Biosciences ready-to-package AAV shRNAs for RYR2 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for RYR2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RYR2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for RYR2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for RYR2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Ovary (Reproductive System)
- Pre-Granulosa Cells Primordial Follicle
- Cumulus Cells Antral Follicle
- Heart (Cardiovascular System)
-
Brain (Nervous System)
- Adult Dopaminergic Neurons Ventral Tegmental Area
-
Neurons
- Adult Dopaminergic Neurons Ventral Tegmental Area
-
Fibroblasts
- Cardiac Fibroblasts Myocardium
mRNA differential expression in normal tissues according to GTEx for RYR2 Gene
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:
RYR2SOURCE GeneReport for Unigene cluster for RYR2 Gene:
Hs.109514mRNA Expression by UniProt/SwissProt for RYR2 Gene:
Q92736-RYR2_HUMANEvidence 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
- ectoderm
- mesoderm
- cardiovascular
- nervous
- skeletal muscle
- brain
- ear
- head
- heart
- heart valve
- lower limb
- upper limb
- blood
- blood vessel
- red blood cell
Primer Products
-
OriGene qPCR primer pairs for RYR2
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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | RYR2 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | RYR2 34 |
|
OneToOne | |
LOC537376 33 |
|
||||
oppossum (Monodelphis domestica) |
Mammalia | RYR2 34 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | RYR2 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Ryr2 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Ryr2 33 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | RYR2 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | RYR2 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
-- 34 |
|
OneToMany | |||
-- 34 |
|
OneToMany | |||
-- 34 |
|
OneToMany | |||
tropical clawed frog (Silurana tropicalis) |
Amphibia | ryr1 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | CABZ01065506.1 34 |
|
OneToMany | |
ryr2a 34 |
|
OneToMany | |||
ryr1b 33 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010750 33 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | Rya-r44F 35 33 |
|
||
worm (Caenorhabditis elegans) |
Secernentea | unc-68 35 33 |
|
||
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)
Paralogs for RYR2 Gene
(3) SIMAP similar genes for RYR2 Gene using alignment to 4 proteins:
Variants 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 |
Additional Variant Information for RYR2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RYR2 Gene
Disorders for RYR2 Gene

(34) MalaCards diseases for RYR2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy |
|
|
arrhythmogenic right ventricular dysplasia, familial, 2 |
|
|
catecholaminergic polymorphic ventricular tachycardia |
|
|
familial isolated arrhythmogenic ventricular dysplasia, right dominant form |
|
|
familial isolated arrhythmogenic ventricular dysplasia, biventricular form |
|
|
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
No data available for Genatlas for RYR2 Gene
Publications for RYR2 Gene
- 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
- 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
- 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
- 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
- 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
Products for RYR2 Gene
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- GenScript: Next-day shipping of latest version cDNA ORF clones for RYR2 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for RYR2
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- GenScript Custom overexpressing Cell Line Services for RYR2
- GenScript: Design CRISPR guide RNA sequences for RYR2
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for RYR2
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
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- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for RYR2
- Novus Biologicals proteins for RYR2
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Cloud-Clone Corp. Antibodies for RYR2
- Cloud-Clone Corp. Proteins for RYR2
- Cloud-Clone Corp. Assay Kits for RYR2
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for RYR2
- ApexBio compounds for RYR2
- Cyagen custom Knockout/knockin (KOKI) mouse models for RYR2
- VectorBuilder custom plasmid, inducible vectors for RYR2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RYR2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 37 available RYR2 Antibodies ranked by validation data
- Compare Top RYR2 Antibodies
- antibodies-online: Search results for 9 available RYR2 Elisa Kits ranked by validation data
- Compare Top RYR2 Elisa Kits
- Recommended
- antibodies-online: Search results for available RYR2 related products ranked by validation data
- Search GeneTex for Antibodies for RYR2
- Search GeneTex for Proteins for RYR2
- ViGene Biosciences adenoviral particle packaged cDNA for RYR2 gene
- ViGene Biosciences lentiviral particle packaged cDNA for RYR2 gene
- ViGene Biosciences ready-to-package AAV shRNAs for RYR2 gene
- Search ViGene Biosciences for RYR2
- Santa Cruz Biotechnology (SCBT) Antibodies for RYR2
- Search Santa Cruz Biotechnology (SCBT) for RYR2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for RYR2
- Horizon Cell Lines for RYR2
- genomics-online: cdna clones - Search results for 61 available RYR2 gene related products
- Overview of 61 available RYR2 gene related products
- orf clones - Search results for 61 available RYR2 gene related products
- Overview of 61 available RYR2 gene related products
- genomics-online: gRNA clones - Search results for 61 available RYR2 gene related products
- Overview of 61 available RYR2 gene related products
- genomics-online: primer clones - Search results for 61 available RYR2 gene related products
- Overview of 61 available RYR2 gene related products
- genomics-online: shRNA clones - Search results for 61 available RYR2 gene related products
- Overview of 61 available RYR2 gene related products
Sources for RYR2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew