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 have 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 localize to Z disc and sarcoplasmic reticulum lumen. Human ortholog(s) of this gene implicated in catecholaminergic polymorphic ventricular tachycardia 2. Is expressed in Purkinje cell; adaxial cell; cardiovascular system; musculature system; and somite. 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