CACNG5
Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 5
Gene Information Card
| Symbol | CACNG5 |
|---|---|
| Full Name | Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q24.2 |
| NCBI Gene ID | 27091 ncbi.nlm.nih.gov/gene/27091 |
| Ensembl ID | ENSG00000108556 |
| UniProt ID | Q9UF02 |
| OMIM ID | 606405 |
| HGNC ID | 1362 |
| Aliases | CACNG5, MGC117188, MGC117189 |
Description
CACNG5 encodes the gamma-5 subunit of voltage-gated calcium channels (VGCCs). This auxiliary subunit modulates channel gating and trafficking, primarily in neuronal tissues. It is part of the gamma subunit family that regulates calcium influx, impacting neurotransmitter release and neuronal excitability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, idiopathic generalized | Altered calcium channel function may contribute to neuronal hyperexcitability | ClinVar, OMIM |
| Schizophrenia | Potential association via calcium signaling dysregulation | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebral cortex | 15.2 | Medium |
| Cerebellum | 10.8 | Medium |
| Testis | 3.4 | Low |
| Heart | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.5 | Neuroblastoma cell line |
| U-87 MG | 6.2 | Glioblastoma cell line |
| HEK293 | 0.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Unknown functional effect |
| c.454G>A (p.Gly152Ser) | Missense | <0.01% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may impair subunit assembly or channel modulation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Voltage-gated calcium channel activity | • Calcium ion transport |
| • Plasma membrane | • Synaptic transmission |
| • Regulation of calcium ion-dependent exocytosis |
Pathways
• Voltage-gated calcium channel complex
• Neuronal system
• Calcium signaling pathway
Protein Summary
The gamma-5 subunit is a transmembrane protein that associates with the alpha-1 subunit of voltage-gated calcium channels. It modulates channel kinetics and surface expression, particularly in neurons. The protein contains four transmembrane domains and is essential for proper calcium signaling in synaptic transmission.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CACNG5 Knockout HEK293 Cell Line | EDJ-KQ631 | Human | 27091 | Details Get a Quote |
| CACNG5 Knockout HeLa Cell Line | EDJ-KQ55998 | Human | 27091 | Details Get a Quote |
| CACNG5 Knockout A-549 Cell Line | EDJ-KQ64486 | Human | 27091 | Details Get a Quote |
| CACNG5 Knockout HCT 116 Cell Line | EDJ-KQ72941 | Human | 27091 | Details Get a Quote |
