CACNB4 calcium voltage-gated channel auxiliary subunit beta 4
Gene ID: 785, updated on 3-Apr-2024Gene type: protein coding
Also known as: EA5; EJM; CAB4; EIG9; EJM4; EJM6; CACNLB4
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- Go to complete Gene record for CACNB4
- Go to Variation Viewer for CACNB4 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients. GeneReviews: Not available | |
| Epilepsy, idiopathic generalized, susceptibility to, 9 | See labs |
| Episodic ataxia type 5 | See labs |
Genomic context
- Location:
- 2q23.3
- Sequence:
- Chromosome: 2; NC_000002.12 (151832771..152099167, complement)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CACNB4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CACNB4 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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