CACNA1E
Calcium Voltage-Gated Channel Subunit Alpha1 E
Gene Information Card
| Symbol | CACNA1E |
|---|---|
| Full Name | Calcium Voltage-Gated Channel Subunit Alpha1 E |
| Gene Type | protein-coding |
| Chromosomal Location | 1q25.3 |
| NCBI Gene ID | 777 ncbi.nlm.nih.gov/gene/777 |
| Ensembl ID | ENSG00000198216 |
| UniProt ID | Q15878 |
| OMIM ID | 601013 |
| HGNC ID | 1392 |
| Aliases | CACH6, Cav2.3, CACNL1A6, EIEE69, DEE69 |
Description
CACNA1E encodes the alpha-1E subunit of a voltage-dependent calcium channel, specifically the R-type (Cav2.3) channel. This subunit forms the pore and determines channel properties. Cav2.3 channels are involved in neurotransmitter release, neuronal excitability, and hormone secretion. Mutations in CACNA1E are associated with developmental and epileptic encephalopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental and epileptic encephalopathy 69 (DEE69) | Missense mutations in CACNA1E lead to gain-of-function effects, increasing calcium influx and neuronal hyperexcitability. | ClinVar, OMIM |
| Epileptic encephalopathy, early infantile, 69 (EIEE69) | De novo missense variants cause altered channel gating and enhanced calcium currents. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Cerebral cortex | 12.5 | Medium |
| Cerebellum | 8.9 | Medium |
| Heart | 1.3 | Low |
| Pancreas | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression |
| U-87 MG (glioblastoma) | 7.1 | Medium expression |
| HEK 293 (embryonic kidney) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2456G>A (p.Arg819His) | Missense | Rare (de novo) | Gain-of-function; increased calcium current |
| c.3644C>T (p.Thr1215Met) | Missense | Rare (de novo) | Gain-of-function; altered voltage dependence |
| c.1234A>G (p.Lys412Glu) | Missense | Rare (de novo) | Gain-of-function; enhanced channel activity |
Mutation functional classification
Loss of Function (LOF)
Not commonly reported; loss-of-function variants are not strongly associated with disease.
Gain of Function (GOF)
Most pathogenic missense mutations result in gain-of-function, increasing calcium influx and neuronal excitability.
Dominant Negative (DN)
Not described for CACNA1E.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated calcium channel activity | • calcium ion transmembrane transport |
| • high voltage-gated calcium channel activity | • membrane |
| • integral component of plasma membrane | • calcium ion binding |
Pathways
• Voltage-gated calcium channels
• Calcium signaling pathway
• Neuronal system
• Synaptic transmission
Protein Summary
The CACNA1E protein (Cav2.3) is a 2313-amino acid alpha-1 subunit that forms the pore of R-type voltage-gated calcium channels. It contains four homologous domains (I-IV), each with six transmembrane segments. The channel mediates calcium influx in response to membrane depolarization, playing key roles in neurotransmitter release, gene expression, and neuronal firing. Mutations causing gain-of-function lead to increased calcium currents and are linked to early-onset epileptic encephalopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CACNA1E Knockout HEK293 Cell Line | EDJ-KQ617 | Human | 777 | Details Get a Quote |
| CACNA1E Knockout HeLa Cell Line | EDJ-KQ52772 | Human | 777 | Details Get a Quote |
| CACNA1E Knockout A-549 Cell Line | EDJ-KQ61239 | Human | 777 | Details Get a Quote |
| CACNA1E Knockout HCT 116 Cell Line | EDJ-KQ69738 | Human | 777 | Details Get a Quote |
