CACNB2 Chromosome 10
Calcium voltage-gated channel auxiliary subunit beta 2
Upload your DNA to see your personal genotypes for variants in CACNB2.
What This Gene Does
This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]
Gene Info
Gene Group
"Membrane associated guanylate kinases|Calcium voltage-gated channel auxiliary beta subunits"
Locus Type
gene with protein product
Location
10p12
Ensembl
ENSG00000165995
Associated Conditions (15)
Brugada syndrome 4
Cardiovascular phenotype
Cardiomyopathy
Brugada syndrome
Ventricular tachycardia
Long QT syndrome
CACNB2-related disorder
Cardiac arrhythmia
Hypertrophic cardiomyopathy
Early repolarization associated with ventricular fibrillation
Cardiac arrest
Paroxysmal familial ventricular fibrillation
Sudden unexplained death
Ventricular fibrillation
Arrhythmogenic right ventricular cardiomyopathy
Key Variants
RS121917812
Conflicting classifications of pathogenicity
Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4
Health Risk
RS137886839
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Brugada syndrome 4, Cardiovascular phenotype
Health Risk
RS140542975
Conflicting classifications of pathogenicity
Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4
Health Risk
RS140614930
Conflicting classifications of pathogenicity
Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4
Health Risk
RS142639223
Conflicting classifications of pathogenicity
Brugada syndrome 4, Cardiomyopathy, Cardiovascular phenotype
Health Risk
RS143326262
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome 4
Health Risk
RS144182966
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome 4
Health Risk
RS144367884
Conflicting classifications of pathogenicity
Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4
Health Risk
RS1456201116
Conflicting classifications of pathogenicity
Long QT syndrome, Brugada syndrome 4, Cardiac arrhythmia
Health Risk
RS145638628
Conflicting classifications of pathogenicity
Brugada syndrome 4, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS148674271
Conflicting classifications of pathogenicity
Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4
Health Risk
RS149253719
Conflicting classifications of pathogenicity
Early repolarization associated with ventricular fibrillation, Cardiovascular phenotype, Brugada syndrome
Health Risk
All Variants (45)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121917812 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4 |
| RS137886839 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome 4, Cardiovascular phenotype |
| RS140542975 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4 |
| RS140614930 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4 |
| RS142639223 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Cardiomyopathy, Cardiovascular phenotype |
| RS143326262 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome 4 |
| RS144182966 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome 4 |
| RS144367884 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4 |
| RS1456201116 | Health Risk | Conflicting classifications of pathogenicity | Long QT syndrome, Brugada syndrome 4, Cardiac arrhythmia |
| RS145638628 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS148674271 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4 |
| RS149253719 | Health Risk | Conflicting classifications of pathogenicity | Early repolarization associated with ventricular fibrillation, Cardiovascular phenotype, Brugada syndrome |
| RS150528041 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Cardiomyopathy |
| RS184280124 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome 4, Cardiovascular phenotype |
| RS199539261 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Hypertrophic cardiomyopathy, Brugada syndrome 4 |
| RS199714857 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4 |
| RS200174877 | Health Risk | Conflicting classifications of pathogenicity | Cardiac arrest, Cardiovascular phenotype, Brugada syndrome 4 |
| RS200367454 | Health Risk | Conflicting classifications of pathogenicity | Paroxysmal familial ventricular fibrillation, Cardiovascular phenotype, Brugada syndrome 4 |
| RS200452448 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome 4, Cardiovascular phenotype |
| RS200764884 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Brugada syndrome 4 |
| RS202152674 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome 4 |
| RS202218948 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4 |
| RS2133325170 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4 |
| RS369696287 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS370839320 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Brugada syndrome 4 |
| RS374465425 | Health Risk | Conflicting classifications of pathogenicity | Ventricular fibrillation, Brugada syndrome 4, Ventricular fibrillation |
| RS541253552 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4 |
| RS544535665 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4 |
| RS546669133 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4 |
| RS551742573 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4 |
| RS560020203 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS561197163 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4 |
| RS571637787 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4 |
| RS577739840 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4 |
| RS61733968 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4 |
| RS755056713 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Brugada syndrome 4 |
| RS759958799 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome 4, Cardiovascular phenotype |
| RS766377211 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4 |
| RS772911828 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4 |
| RS773215003 | Health Risk | Conflicting classifications of pathogenicity | Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype, Brugada syndrome 4 |
| RS775556040 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome 4, Cardiovascular phenotype |
| RS778426010 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4 |
| RS779925106 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome 4, Cardiovascular phenotype |
| RS780045364 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 4, Cardiovascular phenotype, Brugada syndrome 4 |
| RS587777742 | Health Risk | Pathogenic | Brugada syndrome 4, Brugada syndrome 4 |