CACNG7: Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 7
A regulatory subunit of voltage-gated calcium channels with potential roles in neurological and psychiatric disorders
Gene Information Card
| Symbol | CACNG7 |
|---|---|
| Full Name | Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 59284 ncbi.nlm.nih.gov/gene/59284 |
| Ensembl ID | ENSG00000105605 |
| UniProt ID | Q9UQ10 |
| OMIM ID | 609929 |
| HGNC ID | 13622 |
| Aliases | CACNG7, MGC138234, MGC138236, FLJ90695 |
Description
CACNG7 encodes the gamma-7 subunit of voltage-gated calcium channels. This auxiliary subunit modulates channel gating and trafficking, primarily in neuronal tissues. It is part of the stargazin-like family of transmembrane AMPA receptor regulatory proteins (TARPs) and influences synaptic plasticity and calcium signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered expression of CACNG7 may disrupt calcium signaling and synaptic function, contributing to disease risk. | ClinVar, NCBI Gene |
| Bipolar disorder | Genetic association studies have linked CACNG7 variants to bipolar disorder, possibly via modulation of neuronal excitability. | NCBI Gene, OMIM |
| Epilepsy | Dysregulation of calcium channel subunits, including CACNG7, is implicated in seizure susceptibility. | UniProt, ClinVar |
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 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.4 | Neuroblastoma cell line |
| U-87 MG | 5.6 | Glioblastoma cell line |
| HEK293 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437C>T (p.Pro146Leu) | Missense | <0.01% | Unknown functional effect |
| c.112G>A (p.Val38Ile) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Voltage-gated calcium channel pathway (Reactome: R-HSA-5576892)
• Neuronal system (Reactome: R-HSA-112316)
Protein Summary
CACNG7 is a 36 kDa transmembrane protein with four transmembrane domains, belonging to the TARP family. It associates with voltage-gated calcium channels (Cav1 and Cav2 families) and modulates their biophysical properties, including activation and inactivation kinetics. In the brain, it is enriched at postsynaptic densities and regulates AMPA receptor trafficking and synaptic plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CACNG7 Knockout HEK293 Cell Line | EDJ-KQ12711 | Human | 59284 | Details Get a Quote |
| CACNG7 Knockout A-549 Cell Line | EDJ-KQ41796 | Human | 59284 | Details Get a Quote |
| CACNG7 Knockout HeLa Cell Line | EDJ-KQ56963 | Human | 59284 | Details Get a Quote |
| CACNG7 Knockout HCT 116 Cell Line | EDJ-KQ73904 | Human | 59284 | Details Get a Quote |
