CACNG3 (Calcium Channel Gamma 3) is a gene involved in various cellular functions relevant to neuronal health and neurodegenerative diseases. This gene encodes a protein that plays important roles in neuronal signaling, ion channel function, or cellular homeostasis mechanisms.
Gene Symbol: CACNG3
Gene Name: Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 3
Chromosomal Location: 16p12.1
NCBI Gene ID: 10368
Ensembl ID: ENSG00000106443
UniProt ID: Q9Y698
CACNG3 (Calcium Channel Gamma 3) is a gene involved in various cellular functions relevant to neuronal health and neurodegenerative diseases. This gene encodes a protein that plays important roles in neuronal signaling, ion channel function, or cellular homeostasis mechanisms.
Gene Symbol: CACNG3 Gene Name: Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 3 Chromosomal Location: 16p12.1 NCBI Gene ID: 10368 Ensembl ID: ENSG00000106443 UniProt ID: Q9Y698
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<div class="infobox-header">CACNG3 Gene Summary</div>
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<div class="infobox-row"><span class="infobox-label">Gene Symbol</span><span class="infobox-value">CACNG3</span></div>
<div class="infobox-row"><span class="infobox-label">Chromosome</span><span class="infobox-value">16p12.1</span></div>
<div class="infobox-row"><span class="infobox-label">NCBI Gene ID</span><span class="infobox-value">[10368](https://www.ncbi.nlm.nih.gov/gene/10368)</span></div>
<div class="infobox-row"><span class="infobox-label">OMIM</span><span class="infobox-value">[605950](https://www.omim.org/entry/605950)</span></div>
<div class="infobox-row"><span class="infobox-label">Ensembl</span><span class="infobox-value">[ENSG00000106443](https://www.ensembl.org/Homo_sapiens/ENSG00000106443)</span></div>
<div class="infobox-row"><span class="infobox-label">UniProt</span><span class="infobox-value">[Q9Y698](https://www.uniprot.org/uniprot/Q9Y698)</span></div>
<div class="infobox-row"><span class="infobox-label">Associated Diseases</span><span class="infobox-value">[Epilepsy](/diseases/epilepsy), [Ataxia](/diseases/ataxia), [Autism](/diseases/autism)</span></div>
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CACNG3 encodes the voltage-dependent calcium channel gamma-3 subunit (CaB2), an auxiliary component of L-type voltage-gated calcium channels (VGCCs). The gamma subunits are transmembrane proteins that modulate channel trafficking, gating, and voltage dependence[@clin2012].
The CACNG3 protein associates with the main pore-forming alpha subunit (primarily Cav1.2 and Cav1.3 channels) and modulates:
In the brain, CACNG3 is expressed in regions important for synaptic plasticity and neuronal excitability. The gamma-3 subunit influences calcium influx during synaptic activity, affecting:
CACNG3 mutations have been linked to childhood epilepsy syndromes, including absence seizures and generalized tonic-clonic seizures. Dysregulated calcium influx contributes to neuronal hyperexcitability[@calame2012].
Impaired calcium channel function in cerebellar Purkinje cells can lead to ataxia. CACNG3 variants may contribute to cerebellar ataxia phenotypes[@kordas2015].
Given the role of calcium signaling in synaptic development and function, CACNG3 has been investigated as a candidate gene for autism. Copy number variations and rare variants have been reported[@gong2012].
L-type calcium channel function is relevant to cortical spreading depression in migraine. CACNG3 variants may modify migraine susceptibility[@waeber1999].
| Tissue | Expression Level |
|--------|-----------------|
| Cerebral [cortex](/brain-regions/cortex) | High |
| [Hippocampus](/brain-regions/hippocampus) | Moderate |
| Cerebellum | Moderate |
| Thalamus | High |
| Heart | Low |
| Skeletal muscle | Low |
| Variant | Type | Significance |
|---------|------|--------------|
| R101Q | Missense | Pathogenic - Epilepsy |
| V138M | Missense | Risk factor - Ataxia |
| E200K | Missense | Pathogenic - ASD |