CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1
Gene ID: 781, updated on 4-Jan-2025Gene type: protein coding
Also known as: CACNA2; CCHL2A; DEE110; CACNL2A; LINC01112; lncRNA-N3
- See all available tests in GTR for this gene
- Go to complete Gene record for CACNA2D1
- Go to Variation Viewer for CACNA2D1 variants
Summary
The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion. [provided by RefSeq, Nov 2014]
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 | |
| Developmental and epileptic encephalopathy 110 | not available |
| Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study. GeneReviews: Not available | |
| Genetic predictors of medically refractory ulcerative colitis. GeneReviews: Not available | |
| Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. GeneReviews: Not available | |
| Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. GeneReviews: Not available | |
| Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality. GeneReviews: Not available | |
| Multidimensional prognostic risk assessment identifies association between IL12B variation and surgery in Crohn's disease. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Genomic context
- Location:
- 7q21.11
- Sequence:
- Chromosome: 7; NC_000007.14 (81946444..82443956, complement)
- Total number of exons:
- 44
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CACNA2D1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- 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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