PharmGKB: The Pharmacogenomics Knowledge Base

Gene:
RYR2
ryanodine receptor 2 (cardiac)

Overview

Alternate Names: Arrhythmogenic right ventricular dysplasia-2 (arrhythmogenic right ventricular cardiomyopathy); cardiac muscle ryanodine receptor; cardiac muscle ryanodine receptor-calcium release channel
Alternate Symbols: ARVC2; ARVD2; VTSIP
PharmGKB Accession Id: PA300

Details

Cytogenetic Location: chr1 : q43
GP mRNA Boundary†: chr1 : 235272325 - 236063276
GP Gene Boundary†: chr1 : 235262325 - 236066276
Strand: plus
Product Name: cardiac muscle ryanodine receptor, cardiac muscle ryanodine receptor-calcium release channel, cardiac muscle-type ryanodine receptor, ryanodine receptor 2, ryanodine receptor 2 (cardiac)
† The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

Non-Curated Annotations (Non-Curated Annotation)

  1. rs2819770 at chr1:235977627 in RYR2
    GWAS results: Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study (Initial Sample Size: 1,238 individuals (Framingham); Replication Sample Size: NR). This variant is associated with Exercise treadmill test traits.
    Evidence:
    PMID:17903301
    http://www.genome.gov/gwastudies/
Variant names are different names that have been used in the literature and other resources to refer to the same variant. Non-curated variant information is accumulated solely by computational methods and has not been verified by the scientific staff at PharmGKB.

PharmGKB Curated Pathways

BioCarta Pathways†

† External pathways not curated by PharmGKB.

Curated Information

The following drugs are in curated knowledge about this gene.

  Drug Class Relationship Evidence
No phenotype data No genotype data Literature annotations available Not annotated
antiarrhythmics, class i and iii
  •   
  • PD
  •   
  • FA
  • GN
Publications, Pathways
  Drug Relationship Evidence
Phenotype data available Genotype Data Available Literature annotations available Not annotated
amiodarone
  •   
  • PD
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  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
arsenic trioxide
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
cisapride
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
disopyramide
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
dofetilide
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
droperidol
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
flecainide
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
halofantrine
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
haloperidol
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
ibutilide
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
lidocaine
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
mesoridazine
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
methadone
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
mexiletine
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
pentamidine
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
pimozide
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
procainamide
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
propafenone
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
quinidine
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
sotalol
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
sparfloxacin
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
thioridazine
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data No literature annotations Not annotated
tocainide
  •   
  • PD
  •   
  •   
  •   
Pathways

Non-Curated Information

A list of non-curated publications that mention this gene along with other drugs is available.

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