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
  •   
  •   
  •   
  • FA
  • GN
Publications
  Drug Relationship Evidence
No phenotype data No genotype data Literature annotations available Not annotated
doxorubicinol
  •   
  • PD
  •   
  •   
  •   
Publications

Non-Curated Information

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

LinkOuts

Ref Seq NT Accession:
AC_000044
AC_000133
NC_000001
NG_008799
NT_004836
NW_001838549
NW_927128
Ensembl ID:
ENSG00000198626
GenAtlas ID:
RYR2
GeneCard ID:
RYR2
SOURCE ID:
RYR2
MutDB ID:
RYR2
PromoLign ID:
ortho_685
HuGE ID:
RYR2
Comparative Toxicogenomics Acc ID:
6262
ModBase:
Q92736

Common Searches

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