CASQ2: Calsequestrin 2
Key regulator of calcium storage in cardiac muscle
Gene Information Card
| Symbol | CASQ2 |
|---|---|
| Full Name | Calsequestrin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.1 |
| NCBI Gene ID | 845 ncbi.nlm.nih.gov/gene/845 |
| Ensembl ID | ENSG00000118729 |
| UniProt ID | O14958 |
| OMIM ID | 114251 |
| HGNC ID | 1513 |
| Aliases | PDIB2, CSQ2 |
Description
CASQ2 encodes calsequestrin 2, a high-capacity, moderate-affinity calcium-binding protein located in the sarcoplasmic reticulum of cardiac muscle. It acts as a calcium buffer and regulates calcium release during excitation-contraction coupling, critical for normal heart rhythm.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Catecholaminergic polymorphic ventricular tachycardia (CPVT) | Loss-of-function mutations impair calcium buffering, leading to diastolic calcium leak and arrhythmias under stress | ClinVar, OMIM |
| Cardiac arrhythmia | Disrupted calcium homeostasis predisposes to ventricular tachycardia | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 78.5 | High |
| Skeletal muscle | 12.3 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes | 78.5 | Primary cardiac cells |
| HEK293 | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.103C>T (p.Arg35Ter) | Nonsense | Rare | Loss of function, truncation |
| c.532G>A (p.Asp178His) | Missense | Rare | Impaired calcium binding |
| c.1090C>T (p.Arg364Ter) | Nonsense | Rare | Loss of function, CPVT |
Mutation functional classification
Loss of Function (LOF)
Most CASQ2 mutations cause loss of function, reducing calcium buffering capacity and leading to CPVT.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by disrupting multimerization.
View complete mutation data：
Gene Ontology (GO)
| • Calcium ion binding | • Sarcoplasmic reticulum lumen |
| • Excitation-contraction coupling | • Regulation of cardiac muscle contraction |
Pathways
• Cardiac muscle contraction
• Calcium signaling pathway
Protein Summary
Calsequestrin 2 is a 399-amino acid protein that binds up to 50 calcium ions per molecule. It forms polymers in the sarcoplasmic reticulum lumen, modulating calcium release via the ryanodine receptor. Its C-terminal domain is essential for multimerization and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CASQ2 Knockout HEK293 Cell Line | EDJ-KQ1580 | Human | 845 | Details Get a Quote |
| CASQ2 Knockout HeLa Cell Line | EDJ-KQ52791 | Human | 845 | Details Get a Quote |
| CASQ2 Knockout A-549 Cell Line | EDJ-KQ61261 | Human | 845 | Details Get a Quote |
| CASQ2 Knockout HCT 116 Cell Line | EDJ-KQ69757 | Human | 845 | Details Get a Quote |
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