CACNB4 Chromosome 2
Calcium voltage-gated channel auxiliary subunit beta 4
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What This Gene Does
This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016]
Gene Info
Gene Group
"Membrane associated guanylate kinases|Calcium voltage-gated channel auxiliary beta subunits"
Locus Type
gene with protein product
Location
2q23.3
Ensembl
ENSG00000182389
Associated Conditions (11)
Epilepsy
idiopathic generalized
susceptibility to
9
Episodic ataxia type 5
Juvenile myoclonic epilepsy
Idiopathic generalized epilepsy
CACNB4-related disorder
Spastic ataxia
juvenile myoclonic
6
Key Variants
RS1805031
Conflicting classifications of pathogenicity
Epilepsy, idiopathic generalized, susceptibility to
Health Risk
RS200092211
Conflicting classifications of pathogenicity
Episodic ataxia type 5, Epilepsy, idiopathic generalized
Health Risk
RS200662010
Conflicting classifications of pathogenicity
Episodic ataxia type 5, Idiopathic generalized epilepsy, Epilepsy
Health Risk
RS542973906
Conflicting classifications of pathogenicity
Episodic ataxia type 5, Idiopathic generalized epilepsy, Episodic ataxia type 5
Health Risk
RS548177540
Conflicting classifications of pathogenicity
Episodic ataxia type 5, Episodic ataxia type 5
Health Risk
RS548234328
Conflicting classifications of pathogenicity
Episodic ataxia type 5, Episodic ataxia type 5
Health Risk
RS558590558
Conflicting classifications of pathogenicity
Episodic ataxia type 5, Episodic ataxia type 5
Health Risk
RS558998873
Conflicting classifications of pathogenicity
Idiopathic generalized epilepsy, Idiopathic generalized epilepsy
Health Risk
RS573977862
Conflicting classifications of pathogenicity
Idiopathic generalized epilepsy, Idiopathic generalized epilepsy, Episodic ataxia type 5
Health Risk
RS751754026
Conflicting classifications of pathogenicity
Idiopathic generalized epilepsy, Episodic ataxia type 5, Idiopathic generalized epilepsy
Health Risk
RS754380009
Conflicting classifications of pathogenicity
Idiopathic generalized epilepsy, CACNB4-related disorder, Idiopathic generalized epilepsy
Health Risk
RS755272601
Conflicting classifications of pathogenicity
Episodic ataxia type 5, Episodic ataxia type 5
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1805031 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, idiopathic generalized, susceptibility to |
| RS200092211 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 5, Epilepsy, idiopathic generalized |
| RS200662010 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 5, Idiopathic generalized epilepsy, Epilepsy |
| RS542973906 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 5, Idiopathic generalized epilepsy, Episodic ataxia type 5 |
| RS548177540 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 5, Episodic ataxia type 5 |
| RS548234328 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 5, Episodic ataxia type 5 |
| RS558590558 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 5, Episodic ataxia type 5 |
| RS558998873 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic generalized epilepsy, Idiopathic generalized epilepsy |
| RS573977862 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic generalized epilepsy, Idiopathic generalized epilepsy, Episodic ataxia type 5 |
| RS751754026 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic generalized epilepsy, Episodic ataxia type 5, Idiopathic generalized epilepsy |
| RS754380009 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic generalized epilepsy, CACNB4-related disorder, Idiopathic generalized epilepsy |
| RS755272601 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 5, Episodic ataxia type 5 |
| RS762394421 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic generalized epilepsy, Episodic ataxia type 5, Epilepsy |
| RS773391545 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic generalized epilepsy, Episodic ataxia type 5, Epilepsy |
| RS776608168 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic generalized epilepsy, Idiopathic generalized epilepsy |
| RS794727118 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic generalized epilepsy, Idiopathic generalized epilepsy |
| RS2151410142 | Health Risk | Likely pathogenic | Spastic ataxia, Spastic ataxia |
| RS1057518688 | Health Risk | Pathogenic | Epilepsy, idiopathic generalized, susceptibility to |
| RS1805032 | Health Risk | risk factor | Epilepsy, juvenile myoclonic, susceptibility to |