Gene
ryr2a
- ID
- ZDB-GENE-071001-1
- Name
- ryanodine receptor 2a (cardiac)
- Symbol
- ryr2a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to have calcium channel activity. Involved in smoothened signaling pathway. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 2; and catecholaminergic polymorphic ventricular tachycardia 1. Is expressed in brain; cardiac muscle; spinal cord; and trigeminal ganglion. Orthologous to human RYR2 (ryanodine receptor 2).
- Genome Resources
-
- Alliance (1)
- Gene:100126126 (1)
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| catecholaminergic polymorphic ventricular tachycardia 1 | Alliance | Ventricular tachycardia, catecholaminergic polymorphic, 1 | 604772 |
| Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 115000 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
No data available
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance