CACNA2D4 Chromosome 12

Calcium voltage-gated channel auxiliary subunit alpha2delta 4
58 variants 58 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
Calcium voltage-gated channel auxiliary alpha2delta subunits
Locus Type
gene with protein product
Location
12p13.33
Ensembl
ENSG00000151062
Associated Conditions (10)
Retinal cone dystrophy 4
CACNA2D4-related disorder
Inborn genetic diseases
Abnormality of the eye
CACNA2D4-related retinopathy
Gastric cancer
Familial cancer of breast
Retinal dystrophy
Retinitis pigmentosa
Cone-rod dystrophy 6
Key Variants
All Variants (58)
RSID Category Clinical Significance Conditions
RS776513970 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS779480579 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS80092457 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS893406669 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS920314861 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS931193038 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Cone-rod dystrophy 6, Retinal dystrophy
RS1284328591 Health Risk Likely pathogenic
RS2497681025 Health Risk Pathogenic
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