Gene
casq2
- ID
- ZDB-GENE-010724-12
- Name
- calsequestrin 2
- Symbol
- casq2 Nomenclature History
- Previous Names
-
- wu:fa02h03
- zgc:86817
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity. Predicted to be involved in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion. Predicted to be located in sarcoplasmic reticulum. Predicted to be active in sarcoplasmic reticulum lumen. Is expressed in adaxial cell; brain; cardiovascular system; musculature system; and somite. Human ortholog(s) of this gene implicated in catecholaminergic polymorphic ventricular tachycardia 2. Orthologous to human CASQ2 (calsequestrin 2).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 18 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6908916 (10 images)
- IMAGE:7152523 (6 images)
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 2 | Alliance | Ventricular tachycardia, catecholaminergic polymorphic, 2 | 611938 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Calsequestrin | Calsequestrin, C-terminal TRX-fold domain | Calsequestrin, middle TRX-fold domain | Calsequestrin, N-terminal TRX-fold domain | Thioredoxin-like superfamily |
---|---|---|---|---|---|---|
UniProtKB:Q6DI16
|
409 |
Interactions and Pathways
No data available
Plasmids
No data available