CACNG2: Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 2
A key regulator of AMPA receptor trafficking and synaptic plasticity, implicated in neuropsychiatric disorders and cancer.
Gene Information Card
| Symbol | CACNG2 |
|---|---|
| Full Name | Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q12.3 |
| NCBI Gene ID | 10369 ncbi.nlm.nih.gov/gene/10369 |
| Ensembl ID | ENSG00000100226 |
| UniProt ID | Q9Y698 |
| OMIM ID | 602911 |
| HGNC ID | 1406 |
| Aliases | CACNG2, stargazin, TARP gamma-2 |
Description
CACNG2 encodes stargazin, a transmembrane AMPA receptor regulatory protein (TARP) that modulates AMPA receptor trafficking, gating, and synaptic plasticity. It is essential for cerebellar function and has been linked to absence epilepsy, schizophrenia, and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, childhood absence | Altered AMPA receptor trafficking due to CACNG2 mutations reduces inhibitory neurotransmission in thalamocortical circuits. | ClinVar, OMIM |
| Schizophrenia | CACNG2 variants affect glutamatergic signaling and synaptic plasticity, contributing to cognitive deficits. | NCBI Gene, ClinVar |
| Colorectal cancer | CACNG2 overexpression promotes tumor growth via AMPA receptor-mediated calcium signaling. | COSMIC, NCBI Gene |
| Breast cancer | Dysregulated CACNG2 expression correlates with poor prognosis and altered cell proliferation. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 23.4 | High |
| Cerebellum | 45.1 | Very High |
| Cerebral cortex | 18.7 | High |
| Heart | 2.1 | Low |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.5 | Neuronal model |
| U-87 MG (glioblastoma) | 8.9 | Glial tumor line |
| HEK293 (embryonic kidney) | 0.2 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.649C>T (p.Arg217Cys) | Missense | <0.01% | Impaired AMPA receptor clustering; associated with epilepsy |
| c.1123G>A (p.Gly375Ser) | Missense | <0.01% | Reduced surface expression of AMPA receptors |
| c.147_148insG | Frameshift | <0.01% | Loss of function; linked to neurodevelopmental delay |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the C-terminal PDZ-binding domain, disrupting AMPA receptor trafficking.
Gain of Function (GOF)
Not well documented; some missense variants may enhance AMPA receptor conductance.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg217Cys) that interfere with wild-type stargazin function in heterozygous state.
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) | • excitatory synapse (GO:0060076) |
Pathways
• AMPA receptor trafficking (Reactome R-HSA-399719)
• Transmission across chemical synapses (Reactome R-HSA-112315)
• Glutamatergic synapse (KEGG hsa04724)
Protein Summary
Stargazin (CACNG2) is a 323-amino acid transmembrane protein with four membrane-spanning domains and a C-terminal PDZ-binding motif. It functions as an auxiliary subunit of AMPA-type glutamate receptors, regulating their synaptic targeting, channel kinetics, and surface stability. Stargazin is highly expressed in the cerebellum and cerebral cortex, where it is critical for motor coordination and cognitive function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CACNG2 Knockout HEK293 Cell Line | EDJ-KQ629 | Human | 10369 | Details Get a Quote |
| CACNG2 Knockout HeLa Cell Line | EDJ-KQ55395 | Human | 10369 | Details Get a Quote |
| CACNG2 Knockout A-549 Cell Line | EDJ-KQ63875 | Human | 10369 | Details Get a Quote |
| CACNG2 Knockout HCT 116 Cell Line | EDJ-KQ72332 | Human | 10369 | Details Get a Quote |
