ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable calcium ion binding activity and ryanodine-sensitive calcium-release channel activity. Involved in neural tube patterning. Predicted to be located in membrane and sarcoplasmic reticulum. Is expressed in brain; cardiac muscle; spinal cord; and trigeminal ganglion. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy and catecholaminergic polymorphic ventricular tachycardia 1. Orthologous to human RYR2 (ryanodine receptor 2).
- Genome Resources
- 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
| Protein | Additional Resources | Length |
|---|---|---|
| UniProtKB:A0AB32U380 | InterPro | 4550 |
| UniProtKB:A0AC58GZ77 | InterPro | 4961 |
| UniProtKB:A0AC58GZ81 | InterPro | 4955 |
| UniProtKB:A0AC58GZ86 | InterPro | 4943 |
| UniProtKB:A0AC58GZ87 | InterPro | 4954 |
| UniProtKB:A0AC58GZ91 | InterPro | 4949 |
| UniProtKB:A0AC58GZA8 | InterPro | 4948 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers