CACNA1B
Calcium Voltage-Gated Channel Subunit Alpha1 B
Gene Information Card
| Symbol | CACNA1B |
|---|---|
| Full Name | Calcium Voltage-Gated Channel Subunit Alpha1 B |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 775 ncbi.nlm.nih.gov/gene/775 |
| Ensembl ID | ENSG00000148408 |
| UniProt ID | Q00975 |
| OMIM ID | 601012 |
| HGNC ID | 1389 |
| Aliases | CACNL1A5, Cav2.2, BIII, CACN4 |
Description
CACNA1B encodes the alpha-1B subunit of the voltage-dependent N-type calcium channel (Cav2.2). This channel mediates calcium influx in neurons, regulating neurotransmitter release, neuronal excitability, and pain signaling. Alternative splicing generates multiple isoforms with distinct functional properties.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuropathic pain | Gain-of-function variants increase channel activity, enhancing nociceptive signaling | ClinVar, PMID: 25741868 |
| Epilepsy | Missense variants alter channel gating, contributing to neuronal hyperexcitability | ClinVar, PMID: 26026792 |
| Autism spectrum disorder | Rare de novo variants implicated in synaptic dysfunction | ClinVar, PMID: 27479909 |
| Intellectual disability | Loss-of-function variants impair calcium signaling and synaptic plasticity | ClinVar, PMID: 28135719 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Spinal cord | 8.2 | Medium |
| Adrenal gland | 6.1 | Medium |
| Heart | 0.8 | Low |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.3 | Neuroblastoma, high expression |
| SK-N-SH | 12.7 | Neuroblastoma |
| HEK293 | 0.2 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gly1222Arg | Missense | <0.01% | Gain-of-function, associated with pain disorders |
| p.Arg1389His | Missense | <0.01% | Altered voltage dependence, epilepsy |
| p.Val1392Met | Missense | <0.01% | Reduced calcium current, neurodevelopmental delay |
Mutation functional classification
Loss of Function (LOF)
Reduced calcium influx, impaired neurotransmitter release, linked to intellectual disability
Gain of Function (GOF)
Increased channel activity, enhanced pain signaling, associated with neuropathic pain
Dominant Negative (DN)
Not well characterized for CACNA1B
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated calcium channel activity | • calcium ion transmembrane transport |
| • presynaptic membrane | • synaptic transmission |
| • neuronal action potential |
Pathways
• Voltage-gated calcium channels
• Neuropathic pain signaling
• Synaptic vesicle cycle
Protein Summary
The Cav2.2 protein (UniProt Q00975) is a pore-forming alpha-1 subunit of N-type calcium channels. It contains four homologous domains (I-IV), each with six transmembrane segments. The channel is primarily expressed in neurons and neuroendocrine cells, where it controls calcium entry triggering neurotransmitter release. It is a target for analgesic drugs such as ziconotide.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CACNA1B Knockout HEK293 Cell Line | EDJ-KQ614 | Human | 774 | Details Get a Quote |
| CACNA1B Knockout HCT 116 Cell Line | EDJ-KQ19079 | Human | 774 | Details Get a Quote |
| CACNA1B Knockout HeLa Cell Line | EDJ-KQ52769 | Human | 774 | Details Get a Quote |
| CACNA1B Knockout A-549 Cell Line | EDJ-KQ61238 | Human | 774 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
