CACNA1G
Calcium Voltage-Gated Channel Subunit Alpha1 G
Gene Information Card
| Symbol | CACNA1G |
|---|---|
| Full Name | Calcium Voltage-Gated Channel Subunit Alpha1 G |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.33 |
| NCBI Gene ID | 8913 ncbi.nlm.nih.gov/gene/8913 |
| Ensembl ID | ENSG00000006283 |
| UniProt ID | O43497 |
| OMIM ID | 604065 |
| HGNC ID | 1394 |
| Aliases | Cav3.1, NBR13, SCA42, SCA42ND |
Description
CACNA1G encodes the alpha-1G subunit of a T-type voltage-dependent calcium channel (Cav3.1). This channel mediates low-voltage-activated calcium influx, playing critical roles in neuronal pacemaking, thalamocortical oscillations, and hormone secretion. Mutations in CACNA1G are associated with spinocerebellar ataxia type 42 (SCA42) and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia 42 (SCA42) | Missense mutations alter channel gating, leading to Purkinje cell dysfunction | ClinVar, OMIM |
| Spinocerebellar ataxia 42 with neurodevelopmental disorder (SCA42ND) | De novo missense variants cause gain-of-function or loss-of-function effects | ClinVar, OMIM |
| Epilepsy | Rare variants may contribute to neuronal hyperexcitability | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebellum | 15.2 | High |
| Heart | 3.8 | Medium |
| Testis | 2.1 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.9 | Neuronal cell line |
| HEK293 | 0.2 | Low endogenous expression |
| H9c2 | 4.1 | Cardiomyoblast |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.514C>T (p.Arg172Trp) | Missense | <0.01% | Gain-of-function; associated with SCA42 |
| c.2888G>A (p.Arg963His) | Missense | <0.01% | Loss-of-function; associated with SCA42ND |
| c.4519C>T (p.Arg1507Cys) | Missense | <0.01% | Altered channel inactivation |
Mutation functional classification
Loss of Function (LOF)
p.Arg963His reduces channel current density and alters gating.
Gain of Function (GOF)
p.Arg172Trp enhances channel activity and slows inactivation.
Dominant Negative (DN)
Not reported for CACNA1G.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated calcium channel activity | • calcium ion transmembrane transport |
| • low voltage-gated calcium channel activity | • membrane depolarization |
| • neuronal action potential |
Pathways
• T-type calcium channel pathway
• Thalamocortical rhythm regulation
• Cardiac conduction
Protein Summary
The Cav3.1 protein (UniProt O43497) is a 2265-amino acid transmembrane protein that forms the pore of T-type calcium channels. It contains four homologous domains (I-IV), each with six transmembrane segments. The channel activates at low membrane potentials and mediates transient calcium currents. It is highly expressed in brain, particularly cerebellum, and plays roles in neuronal firing patterns and hormone release.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CACNA1G Knockout HEK293 Cell Line | EDJ-KQ150 | Human | 8913 | Details Get a Quote |
| CACNA1G Knockout A-549 Cell Line | EDJ-KQ19081 | Human | 8913 | Details Get a Quote |
| CACNA1G Knockout HCT 116 Cell Line | EDJ-KQ19083 | Human | 8913 | Details Get a Quote |
| CACNA1G Knockout HeLa Cell Line | EDJ-KQ19084 | Human | 8913 | Details Get a Quote |
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