Casq2 Gene Summary [Mouse]
Enables calcium ion sequestering activity. Involved in several processes, including regulation of membrane repolarization; regulation of monoatomic cation transmembrane transport; and sarcomere organization. Acts upstream of or within regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion. Located in Z disc and sarcoplasmic reticulum lumen. Part of junctional membrane complex. Is expressed in several structures, including cardiovascular system; diaphragm; eye; male reproductive system; and skeletal muscle. Used to study catecholaminergic polymorphic ventricular tachycardia 2. Human ortholog(s) of this gene implicated in catecholaminergic polymorphic ventricular tachycardia 2. Orthologous to human CASQ2 (calsequestrin 2). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Casq2 |
| Official Name | calsequestrin 2 [Source:MGI Symbol;Acc:MGI:1309469] |
| Ensembl ID | ENSMUSG00000027861 |
| Bio databases IDs | |
| Aliases | calsequestrin 2 |
| Synonyms | CALSEQUESTRIN 2, cardCSQ, cCSQ, Csq2, ESTM52, PDIB2 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Casq2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Calsequestrin
- calcium-dependent protein binding
- thioredoxin-like domain
- protein kinase C binding
- Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
- calcium ion binding
- protein homodimerization
- protein binding
Pathways
Biological processes and signaling networks where the Casq2 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- catecholaminergic polymorphic ventricular tachycardia type 1
- tachycardia
- catecholaminergic polymorphic ventricular tachycardia
- atrial fibrillation
- catecholaminergic polymorphic ventricular tachycardia type 2
- Huntington disease
- vesicoureteral reflux
- cardiac hypertrophy
- arrhythmia
- rotator cuff injury
role in cell
- morphology
- function
- organization
- leakage
- size
- response by
- abnormal morphology
- homeostasis in
- calcium sparks
- contraction
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- junctional membrane complex
- sarcoplasmic reticulum
- myofilaments
- Z line
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Casq2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
- Purkinje myocyte to ventricular cardiac muscle cell signaling
- regulation of membrane repolarization
- negative regulation of potassium ion transport
- striated muscle contraction
- cardiac muscle contraction
- cellular calcium ion homeostasis
- negative regulation of ryanodine-sensitive calcium-release channel activity
- protein polymerization
- detection of calcium ion
- regulation of heart rate
- regulation of cell communication by electrical coupling
- sequestering of calcium ion
- cellular response to caffeine
- regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
Cellular Component
Where in the cell the gene product is active
- Z disc
- calcium channel complex
- sarcoplasmic reticulum
- cytoplasm
- junctional sarcoplasmic reticulum membrane
- sarcoplasmic reticulum lumen
- sarcoplasmic reticulum membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein homodimerization activity
- calcium ion binding
- calcium-dependent protein binding