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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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CACNB4
calcium voltage-gated channel auxiliary subunit beta 4
Chromosome 2 Β· 2q23.3
NCBI Gene: 785Ensembl: ENSG00000182389.20HGNC: HGNC:1404UniProt: A0A1B0GTK1
48PubMed Papers
23Diseases
10Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
voltage-gated calcium channel activityprotein bindingcalcium ion transmembrane transportvoltage-gated calcium channel complexepisodic ataxia type 5epilepsyfibromyalgianeuropathic pain
✦AI Summary

CACNB4 encodes the beta-4 auxiliary subunit of voltage-gated calcium channels, functioning as a critical regulator of calcium channel activity and neuronal gene expression. As a calcium channel auxiliary subunit, CACNB4 modulates peak calcium current, voltage-dependent activation and inactivation, G-protein inhibition, and membrane targeting of the alpha-1 subunit 1. Beyond its classical electrophysiological role, CACNB4 couples neuronal electrical activity to gene transcription through a nuclear signaling pathway: electrical stimulation triggers CACNB4 nuclear translocation via interaction with the PP2A phosphatase regulatory subunit Ppp2r5d, enabling association with gene promoters and histone modification to regulate transcription 2. CACNB4 mutations cause multiple neurological channelopathies. The R482X truncation mutation impairs nuclear translocation and PP2A interaction, causing juvenile myoclonic epilepsy 2. The missense mutation C104F is associated with generalized epilepsy and episodic ataxia 3. Additionally, CACNB4 mutations cause episodic ataxia type 5, characterized by paroxysmal ataxia responsive to acetazolamide treatment 4. Recent evidence suggests CACNB4 represents a druggable target for periodontitis, with verapamil and safinamide showing potential to inhibit osteoclast differentiation 5.

Sources cited
1
CACNB4 is the human ortholog of mouse lethargic; modulates calcium current and alpha-1 subunit membrane targeting
PMID: 9628818
2
CACNB4 couples electrical activity to gene transcription via nuclear translocation with PP2A; R482X mutation prevents this pathway and causes juvenile myoclonic epilepsy
PMID: 22892567
3
R482X and C104F mutations identified in juvenile myoclonic epilepsy and generalized epilepsy/episodic ataxia respectively
PMID: 10762541
4
CACNB4 mutations on chromosome 2q22-q23 cause episodic ataxia type 5 responsive to acetazolamide
PMID: 16100538
5
CACNB4 identified as druggable target for periodontitis; verapamil and safinamide inhibit osteoclast differentiation
PMID: 41498379
Disease Associationsβ“˜23
episodic ataxia type 5Open Targets
0.69Moderate
epilepsyOpen Targets
0.64Moderate
fibromyalgiaOpen Targets
0.60Moderate
neuropathic painOpen Targets
0.60Moderate
SeizureOpen Targets
0.60Moderate
restless legs syndromeOpen Targets
0.58Moderate
neuralgiaOpen Targets
0.58Moderate
anxiety disorderOpen Targets
0.57Moderate
postherpetic neuralgiaOpen Targets
0.57Moderate
spinal cord injuryOpen Targets
0.54Moderate
Focal-onset seizureOpen Targets
0.48Moderate
cardiovascular diseaseOpen Targets
0.47Moderate
Urinary incontinenceOpen Targets
0.43Moderate
PainOpen Targets
0.42Moderate
diabetic neuropathyOpen Targets
0.41Moderate
neurodegenerative diseaseOpen Targets
0.40Moderate
generalized anxiety disorderOpen Targets
0.40Weak
insomniaOpen Targets
0.40Weak
partial epilepsyOpen Targets
0.39Weak
Chronic painOpen Targets
0.39Weak
Epilepsy, idiopathic generalized 9UniProt
Episodic ataxia 5UniProt
Juvenile myoclonic epilepsy 6UniProt
Pathogenic Variants3
NM_000726.5(CACNB4):c.241G>A (p.Ala81Thr)Likely pathogenic
Epilepsy, idiopathic generalized, susceptibility to, 9
β˜…β˜†β˜†β˜†2025β†’ Residue 81
NM_000726.5(CACNB4):c.615A>T (p.Lys205Asn)Likely pathogenic
Spastic ataxia
β˜…β˜†β˜†β˜†2021β†’ Residue 205
NM_000726.5(CACNB4):c.610del (p.Gln204fs)Pathogenic
Epilepsy, idiopathic generalized, susceptibility to, 9
β˜†β˜†β˜†β˜†2016β†’ Residue 204
View on ClinVar β†—
Drug Targets10
ATAGABALINPhase II
Voltage-gated calcium channel modulator
insomnia
BEPRIDILApproved
Voltage-gated calcium channel blocker
cardiovascular disease
GABAPENTINApproved
Voltage-gated calcium channel modulator
epilepsy
GABAPENTIN ENACARBILApproved
Voltage-gated calcium channel modulator
restless legs syndrome
IMAGABALINPhase III
Voltage-gated calcium channel modulator
generalized anxiety disorder
PHLOROGLUCINOLApproved
Voltage-gated calcium channel blocker
gastrointestinal disease
PREGABALINApproved
Voltage-gated calcium channel modulator
neuropathic pain
SULOCTIDILApproved
Voltage-gated calcium channel blocker
cardiovascular disease
TERODILINEApproved
Muscarinic acetylcholine receptor antagonist
Urinary incontinence
TERODILINE HYDROCHLORIDEUNKNOWN
Muscarinic acetylcholine receptor antagonist
Related Genes
CACNA2D2Protein interaction98%PRKACBProtein interaction97%CACNA1CProtein interaction96%CACNA1DProtein interaction96%CACNA1FProtein interaction96%CACNA2D1Protein interaction96%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
31%
Lung
5%
Heart
3%
Ovary
3%
Liver
1%
Gene Interaction Network
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CACNB4CACNA2D2PRKACBCACNA1CCACNA1DCACNA1FCACNA2D1
PROTEIN STRUCTURE
Preparing viewer…
PDB2D46 Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.78LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.54 [0.38–0.78]
RankingsWhere CACNB4 stands among ~20K protein-coding genes
  • #9,051of 20,598
    Most Researched48
  • #239of 1,025
    FDA-Approved Drug Targets7 Β· top quartile
  • #4,067of 5,498
    Most Pathogenic Variants3
  • #6,367of 17,882
    Most Constrained (LOEUF)0.78
Genes detectedCACNB4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
[Episodic ataxias].
PMID: 16100538
Tidsskr Nor Laegeforen Β· 2005
1.00
2
Calcium channel beta 4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic.
PMID: 9628818
Genomics Β· 1998
0.90
3
Integrative Human Genomic and Pharmacological Analyses Identify CACNB4 as a Druggable Target for Periodontitis.
PMID: 41498379
J Periodontal Res Β· 2026
0.80
4
[Hereditary episodic ataxia].
PMID: 21492892
Rev Neurol (Paris) Β· 2011
0.70
5
Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.
PMID: 10762541
Am J Hum Genet Β· 2000
0.60