CACNG8: Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 8
A key regulator of neuronal and cardiac calcium channel function, implicated in neurodevelopmental disorders and cancer.
Gene Information Card
| Symbol | CACNG8 |
|---|---|
| Full Name | Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 59283 ncbi.nlm.nih.gov/gene/59283 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | Q8WXS5 |
| OMIM ID | 609457 |
| HGNC ID | 13614 |
| Aliases | MGC138234, MGC138236, TARP gamma-8 |
Description
CACNG8 encodes a member of the voltage-dependent calcium channel gamma subunit family. This protein is an auxiliary subunit of L-type calcium channels and is also a transmembrane AMPA receptor regulatory protein (TARP) that modulates AMPA receptor trafficking and gating in the central nervous system. It plays a critical role in synaptic plasticity and neuronal excitability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with or without seizures | Altered calcium channel function and AMPA receptor regulation | ClinVar |
| Epilepsy | Dysregulation of neuronal excitability via calcium signaling | OMIM |
| Breast cancer | Overexpression linked to tumor progression | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 3.2 | Low |
| Skeletal muscle | 1.1 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| MCF7 (breast cancer) | 6.4 | Overexpressed in cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | Rare | Likely loss of function |
| c.482G>A (p.Arg161Gln) | Missense | Rare | Uncertain significance |
| c.1234_1235insA | Frameshift | Very rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, impairing calcium channel modulation.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Not reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated calcium channel activity (GO:0005245) | • ionotropic glutamate receptor binding (GO:0035255) |
| • neuronal cell body (GO:0043025) | • plasma membrane (GO:0005886) |
Pathways
• Voltage-gated calcium channel complex (Reactome: R-HSA-5576892)
• AMPA receptor trafficking (Reactome: R-HSA-399719)
Protein Summary
The CACNG8 protein (TARP gamma-8) is a 425-amino acid transmembrane protein with four transmembrane domains. It functions as an auxiliary subunit of voltage-gated calcium channels and as a TARP, regulating AMPA receptor surface expression and channel kinetics. It is predominantly expressed in the brain and heart.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CACNG8 Knockout HEK293 Cell Line | EDJ-KQ12712 | Human | 59283 | Details Get a Quote |
| CACNG8 Knockout A-549 Cell Line | EDJ-KQ41797 | Human | 59283 | Details Get a Quote |
| CACNG8 Knockout HeLa Cell Line | EDJ-KQ56962 | Human | 59283 | Details Get a Quote |
| CACNG8 Knockout HCT 116 Cell Line | EDJ-KQ73903 | Human | 59283 | Details Get a Quote |
