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 (
)
-
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.
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.
Curated Information
The following drugs are in curated knowledge about this gene.
Primary phenotype data has been submitted and is available
Primary genotype data has been submitted and is available
| Drug Class | Relationship | Evidence | |
|---|---|---|---|
|
antiarrhythmics, class i and iii |
|
Publications |
| Drug | Relationship | Evidence | |
|---|---|---|---|
|
|
doxorubicinol |
|
Publications |
Non-Curated Information
A list of non-curated publications that mention this gene along with other drugs is available.
LinkOuts
- Entrez Gene ID:
- 6262
- OMIM Accession:
- 180902
- 600996
- 604772
- UCSC Genome Browser ID:
- NM_001035
- Ref Seq NM Accession:
- NM_001035
- Ref Seq NP Accession:
- BAG57876
- BAG57915
- BAG60160
- CAA05502
- CAA62975
- CAA66975
- CAA69395
- CAC18855
- CAH71369
- CAH71393
- CAH73918
- CAI14440
- CAI15350
- CAI15936
- CAI22065
- EAW70069
- EAW70070
- EAW70071
- NP_001026
- Q92736