CACNA1D Chromosome 3
Calcium voltage-gated channel subunit alpha1 D
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What This Gene Does
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]
Gene Info
Gene Group
Calcium voltage-gated channel alpha1 subunits
Locus Type
gene with protein product
Location
3p21.1
Ensembl
ENSG00000157388
Associated Conditions (18)
Inborn genetic diseases
CACNA1D-related disorder
Sinoatrial node dysfunction and deafness
Aldosterone-producing adenoma with seizures and neurological abnormalities
Dystonia
early-onset
and/or spastic paraplegia
Intellectual disability
Congenital anomaly of kidney and urinary tract
Thyroid cancer
nonmedullary
1
Acute myeloid leukemia
Hearing impairment
See cases
Congenital disorder of glycosylation
type Iw
autosomal dominant
Key Variants
RS1042358908
Conflicting classifications of pathogenicity
Health Risk
RS115066564
Conflicting classifications of pathogenicity
Inborn genetic diseases, CACNA1D-related disorder, Inborn genetic diseases
Health Risk
RS139380111
Conflicting classifications of pathogenicity
CACNA1D-related disorder, CACNA1D-related disorder
Health Risk
RS140215004
Conflicting classifications of pathogenicity
Sinoatrial node dysfunction and deafness, Aldosterone-producing adenoma with seizures and neurological abnormalities, Sinoatrial node dysfunction and deafness
Health Risk
RS141581705
Conflicting classifications of pathogenicity
Dystonia, early-onset, and/or spastic paraplegia
Health Risk
RS142692903
Conflicting classifications of pathogenicity
Aldosterone-producing adenoma with seizures and neurological abnormalities, Aldosterone-producing adenoma with seizures and neurological abnormalities
Health Risk
RS143354476
Conflicting classifications of pathogenicity
Health Risk
RS144474773
Conflicting classifications of pathogenicity
Health Risk
RS144688228
Conflicting classifications of pathogenicity
Health Risk
RS146747080
Conflicting classifications of pathogenicity
Sinoatrial node dysfunction and deafness, Sinoatrial node dysfunction and deafness
Health Risk
RS147146258
Conflicting classifications of pathogenicity
Intellectual disability, Inborn genetic diseases, Congenital anomaly of kidney and urinary tract
Health Risk
RS1475661078
Conflicting classifications of pathogenicity
Aldosterone-producing adenoma with seizures and neurological abnormalities, Aldosterone-producing adenoma with seizures and neurological abnormalities
Health Risk
All Variants (69)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS779483775 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779549091 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779910083 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS886044438 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS953240164 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1064794938 | Health Risk | Likely pathogenic | — |
| RS1553676901 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1576484361 | Health Risk | Likely pathogenic | Sinoatrial node dysfunction and deafness, Sinoatrial node dysfunction and deafness |
| RS2108837611 | Health Risk | Likely pathogenic | — |
| RS2473100343 | Health Risk | Likely pathogenic | See cases, See cases |
| RS386834263 | Health Risk | Likely pathogenic | — |
| RS2094903479 | Health Risk | Pathogenic | — |
| RS2473017875 | Health Risk | Pathogenic | — |
| RS2473767486 | Health Risk | Pathogenic | Aldosterone-producing adenoma with seizures and neurological abnormalities, Aldosterone-producing adenoma with seizures and neurological abnormalities |
| RS2473767558 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type Iw, autosomal dominant |
| RS2474190262 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS386834264 | Health Risk | Pathogenic | Aldosterone-producing adenoma with seizures and neurological abnormalities, Aldosterone-producing adenoma with seizures and neurological abnormalities |
| RS398122827 | Health Risk | Pathogenic | Sinoatrial node dysfunction and deafness, Sinoatrial node dysfunction and deafness |
| RS777591848 | Health Risk | Pathogenic/Likely pathogenic | See cases, See cases |