CACNA2D4 Chromosome 12
Calcium voltage-gated channel auxiliary subunit alpha2delta 4
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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
RS116214586
Conflicting classifications of pathogenicity
Retinal cone dystrophy 4, CACNA2D4-related disorder, Retinal cone dystrophy 4
Health Risk
RS1210621191
Conflicting classifications of pathogenicity
Health Risk
RS1293713568
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1314490125
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141318501
Conflicting classifications of pathogenicity
Retinal cone dystrophy 4, Retinal cone dystrophy 4, Retinal cone dystrophy 4
Health Risk
RS142964907
Conflicting classifications of pathogenicity
Retinal cone dystrophy 4, Retinal cone dystrophy 4
Health Risk
RS145150489
Conflicting classifications of pathogenicity
Retinal cone dystrophy 4, CACNA2D4-related disorder, Retinal cone dystrophy 4
Health Risk
RS146752598
Conflicting classifications of pathogenicity
Retinal cone dystrophy 4, CACNA2D4-related disorder, Retinal cone dystrophy 4
Health Risk
RS148970681
Conflicting classifications of pathogenicity
Health Risk
RS149879416
Conflicting classifications of pathogenicity
Retinal cone dystrophy 4, Retinal cone dystrophy 4
Health Risk
RS181731184
Conflicting classifications of pathogenicity
Retinal cone dystrophy 4, Retinal cone dystrophy 4
Health Risk
RS199570994
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (58)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116214586 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, CACNA2D4-related disorder, Retinal cone dystrophy 4 |
| RS1210621191 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1293713568 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1314490125 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS141318501 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS142964907 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS145150489 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, CACNA2D4-related disorder, Retinal cone dystrophy 4 |
| RS146752598 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, CACNA2D4-related disorder, Retinal cone dystrophy 4 |
| RS148970681 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149879416 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS181731184 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS199570994 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200027649 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, CACNA2D4-related disorder, Retinal cone dystrophy 4 |
| RS200098356 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Abnormality of the eye, CACNA2D4-related retinopathy |
| RS200648405 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS200706568 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS200973567 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, CACNA2D4-related disorder, Retinal cone dystrophy 4 |
| RS201084922 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201325274 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Gastric cancer, Familial cancer of breast |
| RS201441835 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201783863 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS202195511 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS368886623 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, CACNA2D4-related disorder, Retinal cone dystrophy 4 |
| RS371892188 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS374485519 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS375466678 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS375552481 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS377756881 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS528334716 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS529890510 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS553620421 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Inborn genetic diseases, Retinal dystrophy |
| RS559637881 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS572396211 | Health Risk | Conflicting classifications of pathogenicity | CACNA2D4-related disorder, CACNA2D4-related disorder |
| RS71454844 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, CACNA2D4-related disorder, Retinal cone dystrophy 4 |
| RS745670628 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS747489303 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752598542 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS752700351 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS754714905 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS755690994 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS755996321 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS756122685 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756341043 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS761902357 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS764405009 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765645971 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS769265675 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS77175207 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |
| RS772592088 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS773736333 | Health Risk | Conflicting classifications of pathogenicity | Retinal cone dystrophy 4, Retinal cone dystrophy 4 |