CACNA2D3 calcium voltage-gated channel auxiliary subunit alpha2delta 3
Gene ID: 55799, updated on 18-Sep-2024Gene type: protein coding
Also known as: HSA272268
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- Go to complete Gene record for CACNA2D3
- Go to Variation Viewer for CACNA2D3 variants
Summary
This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. 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. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. GeneReviews: Not available | |
| Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants. GeneReviews: Not available | |
| Genetics of coronary artery calcification among African Americans, a meta-analysis. GeneReviews: Not available | |
| Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus? GeneReviews: Not available | |
| Genome-wide association study of antibody response to smallpox vaccine. GeneReviews: Not available | |
| Genome-wide association study of endometrial cancer in E2C2. GeneReviews: Not available |
Genomic context
- Location:
- 3p21.1-p14.3
- Sequence:
- Chromosome: 3; NC_000003.12 (54122552..55074557)
- Total number of exons:
- 38
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CACNA2D3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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