CACNA1F Chromosome X
Calcium voltage-gated channel subunit alpha1 F
Upload your DNA to see your personal genotypes for variants in CACNA1F.
What This Gene Does
This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013]
Gene Info
Gene Group
Calcium voltage-gated channel alpha1 subunits
Locus Type
gene with protein product
Location
Xp11.23
Ensembl
ENSG00000102001
Associated Conditions (27)
Inborn genetic diseases
Retinal dystrophy
Congenital stationary night blindness 2A
CACNA1F-related disorder
Congenital stationary night blindness
Macular dystrophy
Aland island eye disease
CACNA1F-related retinopathy
X-linked cone-rod dystrophy 3
Retinitis pigmentosa
Nonpapillary renal cell carcinoma
Cone-rod dystrophy
Abnormality of the eye
Amblyopia
Myopia
type 2A
severe
Thyroid cancer
nonmedullary
1
+7 more conditions
Key Variants
RS1064794711
Conflicting classifications of pathogenicity
Health Risk
RS1198251463
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1335615080
Conflicting classifications of pathogenicity
Retinal dystrophy, Congenital stationary night blindness 2A, Retinal dystrophy
Health Risk
RS1360293270
Conflicting classifications of pathogenicity
Health Risk
RS141010716
Conflicting classifications of pathogenicity
Congenital stationary night blindness 2A, Retinal dystrophy, Congenital stationary night blindness 2A
Health Risk
RS144131971
Conflicting classifications of pathogenicity
Health Risk
RS149685267
Conflicting classifications of pathogenicity
CACNA1F-related disorder, CACNA1F-related disorder
Health Risk
RS1557110006
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS1602621312
Conflicting classifications of pathogenicity
Congenital stationary night blindness, Congenital stationary night blindness
Health Risk
RS199932603
Conflicting classifications of pathogenicity
Macular dystrophy, Retinal dystrophy, Macular dystrophy
Health Risk
RS202029187
Conflicting classifications of pathogenicity
Health Risk
RS2065663700
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
All Variants (193)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2065753439 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2065788651 | Health Risk | Likely pathogenic | Congenital stationary night blindness 2A, Congenital stationary night blindness 2A |
| RS2065832850 | Health Risk | Likely pathogenic | Congenital stationary night blindness 2A, Congenital stationary night blindness 2A |
| RS2065833366 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2065833777 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2065854138 | Health Risk | Likely pathogenic | Congenital stationary night blindness 2A, Congenital stationary night blindness 2A |
| RS2147895770 | Health Risk | Likely pathogenic | — |
| RS2147896131 | Health Risk | Likely pathogenic | CACNA1F-related disorder, CACNA1F-related disorder |
| RS2147897090 | Health Risk | Likely pathogenic | Aland island eye disease, Aland island eye disease |
| RS2147905040 | Health Risk | Likely pathogenic | — |
| RS2147907573 | Health Risk | Likely pathogenic | — |
| RS2147909115 | Health Risk | Likely pathogenic | — |
| RS2147916471 | Health Risk | Likely pathogenic | — |
| RS2147917894 | Health Risk | Likely pathogenic | Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma |
| RS2147924133 | Health Risk | Likely pathogenic | — |
| RS2147924614 | Health Risk | Likely pathogenic | — |
| RS2147925559 | Health Risk | Likely pathogenic | — |
| RS2519124587 | Health Risk | Likely pathogenic | — |
| RS2519138457 | Health Risk | Likely pathogenic | — |
| RS2519139321 | Health Risk | Likely pathogenic | — |
| RS2519139558 | Health Risk | Likely pathogenic | Congenital stationary night blindness 2A, Congenital stationary night blindness 2A |
| RS2519143271 | Health Risk | Likely pathogenic | Congenital stationary night blindness 2A, Congenital stationary night blindness 2A |
| RS2520704437 | Health Risk | Likely pathogenic | — |
| RS2520742477 | Health Risk | Likely pathogenic | Congenital stationary night blindness 2A, Congenital stationary night blindness 2A |
| RS2520742671 | Health Risk | Likely pathogenic | — |
| RS2520747479 | Health Risk | Likely pathogenic | — |
| RS2520775696 | Health Risk | Likely pathogenic | — |
| RS2520789817 | Health Risk | Likely pathogenic | Aland island eye disease, Aland island eye disease |
| RS2520791805 | Health Risk | Likely pathogenic | — |
| RS2520823426 | Health Risk | Likely pathogenic | — |
| RS2520839479 | Health Risk | Likely pathogenic | — |
| RS2520852085 | Health Risk | Likely pathogenic | Aland island eye disease, Aland island eye disease |
| RS2520865466 | Health Risk | Likely pathogenic | — |
| RS2520865607 | Health Risk | Likely pathogenic | X-linked cone-rod dystrophy 3, X-linked cone-rod dystrophy 3 |
| RS2520867977 | Health Risk | Likely pathogenic | Congenital stationary night blindness 2A, Congenital stationary night blindness 2A |
| RS2520905278 | Health Risk | Likely pathogenic | — |
| RS2520906768 | Health Risk | Likely pathogenic | Cone-rod dystrophy, Cone-rod dystrophy |
| RS2520916556 | Health Risk | Likely pathogenic | — |
| RS2520968443 | Health Risk | Likely pathogenic | Congenital stationary night blindness 2A, Congenital stationary night blindness 2A |
| RS782088427 | Health Risk | Likely pathogenic | — |
| RS782362725 | Health Risk | Likely pathogenic | Abnormality of the eye, Abnormality of the eye |
| RS782737751 | Health Risk | Likely pathogenic | — |
| RS868980404 | Health Risk | Likely pathogenic | — |
| RS971641043 | Health Risk | Likely pathogenic | — |
| RS1057518829 | Health Risk | Pathogenic | Amblyopia, Myopia, Congenital stationary night blindness 2A |
| RS122456133 | Health Risk | Pathogenic | Congenital stationary night blindness 2A, Congenital stationary night blindness 2A |
| RS122456134 | Health Risk | Pathogenic | Congenital stationary night blindness 2A, Congenital stationary night blindness, Retinal dystrophy |
| RS122456135 | Health Risk | Pathogenic | Congenital stationary night blindness 2A, Congenital stationary night blindness, Congenital stationary night blindness 2A |
| RS122456136 | Health Risk | Pathogenic | Congenital stationary night blindness, type 2A, severe |
| RS1358925739 | Health Risk | Pathogenic | Congenital stationary night blindness, X-linked cone-rod dystrophy 3, Congenital stationary night blindness |