CACNB2: Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2
A key regulator of L-type calcium channel function, implicated in cardiac and neurological disorders.
Gene Information Card
| Symbol | CACNB2 |
|---|---|
| Full Name | Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p12.33-p12.31 |
| NCBI Gene ID | 783 ncbi.nlm.nih.gov/gene/783 |
| Ensembl ID | ENSG00000165995 |
| UniProt ID | Q08289 |
| OMIM ID | 600003 |
| HGNC ID | 1402 |
| Aliases | CACNLB2, MYSB, CACNB2B, CAVB2 |
Description
CACNB2 encodes the beta-2 subunit of voltage-gated calcium channels, which modulates channel gating, trafficking, and current density. It is highly expressed in cardiac and neuronal tissues, where it regulates calcium influx critical for excitation-contraction coupling and neurotransmitter release.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Brugada syndrome 4 | Loss-of-function mutations reduce cardiac calcium current, predisposing to arrhythmia. | ClinVar, OMIM |
| Early repolarization syndrome | Altered channel kinetics due to CACNB2 variants increase risk of ventricular fibrillation. | ClinVar |
| Neuropsychiatric disorders (e.g., schizophrenia, bipolar disorder) | Disrupted calcium signaling in neurons affects synaptic plasticity and neurotransmission. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 32.5 | High |
| Brain (cortex) | 18.2 | Medium |
| Skeletal muscle | 12.1 | Medium |
| Liver | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPSC-derived) | 45.0 | High expression in cardiac models |
| SH-SY5Y (neuroblastoma) | 22.3 | Neuronal expression |
| HEK293 | 8.7 | Low baseline expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1627G>A (p.Gly543Arg) | Missense | <0.01% | Reduced calcium current density; associated with Brugada syndrome |
| c.1216C>T (p.Arg406Cys) | Missense | <0.01% | Altered channel inactivation; linked to early repolarization syndrome |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression; severe cardiac phenotype |
Mutation functional classification
Loss of Function (LOF)
Most reported pathogenic mutations reduce calcium current amplitude or alter channel gating, leading to cardiac arrhythmias.
Gain of Function (GOF)
Rare; some variants may enhance channel activity, potentially contributing to Timothy syndrome-like phenotypes.
Dominant Negative (DN)
Not well documented; most mutations are haploinsufficient or recessive.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated calcium channel activity | • calcium ion transport |
| • regulation of cardiac muscle contraction | • synaptic transmission |
| • membrane depolarization |
Pathways
• Voltage-gated calcium channel complex
• Cardiac conduction
• Calcium signaling pathway
Protein Summary
The beta-2 subunit (CACNB2) is a cytoplasmic auxiliary protein that binds to the alpha-1 subunit of L-type calcium channels. It enhances channel trafficking to the plasma membrane, modulates voltage-dependent activation and inactivation kinetics, and increases calcium current density. In the heart, it is essential for normal cardiac action potential and contraction; in neurons, it influences neurotransmitter release and gene expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CACNB2 Knockout HEK293 Cell Line | EDJ-KQ625 | Human | 783 | Details Get a Quote |
| CACNB2 Knockout A-549 Cell Line | EDJ-KQ19090 | Human | 783 | Details Get a Quote |
| CACNB2 Knockout HCT 116 Cell Line | EDJ-KQ19091 | Human | 783 | Details Get a Quote |
| CACNB2 Knockout HeLa Cell Line | EDJ-KQ19092 | Human | 783 | Details Get a Quote |
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