CACNB2 calcium voltage-gated channel auxiliary subunit beta 2
Gene ID: 783, updated on 14-Nov-2024Gene type: protein coding
Also known as: CAB2; MYSB; CAVB2; CACNLB2
- See all available tests in GTR for this gene
- Go to complete Gene record for CACNB2
- Go to Variation Viewer for CACNB2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies protein quantitative trait loci (pQTLs). GeneReviews: Not available | |
| Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
| Brugada syndrome 4 | See labs |
| Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. GeneReviews: Not available | |
| Genome-wide association analysis identifies 13 new risk loci for schizophrenia. GeneReviews: Not available | |
| Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. GeneReviews: Not available | |
| Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. GeneReviews: Not available | |
| Genome-wide association study of blood pressure and hypertension. GeneReviews: Not available | |
| Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. GeneReviews: Not available | |
| Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances. GeneReviews: Not available | |
| Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Genomic context
- Location:
- 10p12.33-p12.31
- Sequence:
- Chromosome: 10; NC_000010.11 (18140424..18543557)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CACNB2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CACNB2 database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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