CACNG3 Gene - Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 3
Comprehensive genomic and functional analysis of CACNG3, a regulator of calcium channel activity and its role in neurological disorders.
Gene Information Card
| Symbol | CACNG3 |
|---|---|
| Full Name | Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p12.1 |
| NCBI Gene ID | 10368 ncbi.nlm.nih.gov/gene/10368 |
| Ensembl ID | ENSG00000131089 |
| UniProt ID | O60359 |
| OMIM ID | 606403 |
| HGNC ID | 1405 |
| Aliases | CACNG3, MGC138235, MGC138237 |
Description
CACNG3 encodes the gamma-3 subunit of voltage-gated calcium channels. This auxiliary subunit modulates channel gating kinetics and trafficking, primarily in neuronal tissues. It is part of the gamma subunit family that regulates calcium influx, influencing neurotransmitter release and neuronal excitability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, familial focal, with variable foci | Altered calcium channel function due to CACNG3 mutations may disrupt neuronal excitability | ClinVar: Pathogenic variants reported in patients with focal epilepsy |
| Neurodevelopmental delay with or without seizures | Loss-of-function variants impair calcium signaling required for synaptic plasticity | ClinVar: De novo missense variants associated with developmental delay |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebral cortex | 15.2 | Medium |
| Cerebellum | 10.8 | Medium |
| Testis | 3.1 | Low |
| Heart | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.4 | Neuronal model |
| U-87 MG (glioblastoma) | 6.7 | Glial origin |
| HEK 293 (embryonic kidney) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.647G>A (p.Arg216His) | Missense | Rare | Alters voltage-sensing domain; likely loss of function |
| c.832C>T (p.Arg278Trp) | Missense | Rare | Impairs subunit assembly; associated with epilepsy |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg216His) reduce channel trafficking or gating efficiency.
Gain of Function (GOF)
Not reported for CACNG3.
Dominant Negative (DN)
Possible for variants disrupting subunit interactions, but evidence limited.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated calcium channel activity (GO:0005245) | • voltage-gated calcium channel complex (GO:0005891) |
| • transmembrane transport (GO:0055085) | • calcium ion transport (GO:0006816) |
Pathways
• Voltage-gated calcium channel pathway (Reactome: R-HSA-5576892)
• Neuronal system (KEGG: hsa04728)
Protein Summary
The CACNG3 protein (gamma-3 subunit) is a transmembrane auxiliary subunit of voltage-gated calcium channels. It modulates channel inactivation kinetics and surface expression. Predominantly expressed in the brain, it plays a critical role in regulating calcium-dependent processes such as neurotransmitter release and neuronal excitability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CACNG3 Knockout HEK293 Cell Line | EDJ-KQ630 | Human | 10368 | Details Get a Quote |
| CACNG3 Knockout HeLa Cell Line | EDJ-KQ55394 | Human | 10368 | Details Get a Quote |
| CACNG3 Knockout A-549 Cell Line | EDJ-KQ63874 | Human | 10368 | Details Get a Quote |
| CACNG3 Knockout HCT 116 Cell Line | EDJ-KQ72331 | Human | 10368 | Details Get a Quote |
