CACNA1D calcium voltage-gated channel subunit alpha1 D
Gene ID: 776, updated on 9-Dec-2024Gene type: protein coding
Also known as: CACH3; CACN4; PASNA; SANDD; Cav1.3; CCHL1A2; CACNL1A2
- See all available tests in GTR for this gene
- Go to complete Gene record for CACNA1D
- Go to Variation Viewer for CACNA1D variants
Summary
Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Aldosterone-producing adenoma with seizures and neurological abnormalities | See labs |
| Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. GeneReviews: Not available | |
| Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations. GeneReviews: Not available | |
| Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study. GeneReviews: Not available | |
| Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. GeneReviews: Not available | |
| Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. GeneReviews: Not available | |
| Sinoatrial node dysfunction and deafness | See labs |
Genomic context
- Location:
- 3p21.1
- Sequence:
- Chromosome: 3; NC_000003.12 (53494611..53813733)
- Total number of exons:
- 55
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CACNA1D 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.