Entity Details

Primary name CACNA1F
Entity type gene
Source Source Link

Details

PrimaryID778
RefseqGeneNG_009095
SymbolCACNA1F
Namecalcium voltage-gated channel subunit alpha1 F
ChromosomeX
LocationXp11.23
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-03-17
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCAC1F_HUMAN

GO terms

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GOName
GO:0001750 photoreceptor outer segment
GO:0005245 voltage-gated calcium channel activity
GO:0005891 voltage-gated calcium channel complex
GO:0006816 calcium ion transport
GO:0007601 visual perception
GO:0008331 high voltage-gated calcium channel activity
GO:0016021 integral component of membrane
GO:0034765 regulation of ion transmembrane transport
GO:0043204 perikaryon
GO:0046872 metal ion binding
GO:0050908 detection of light stimulus involved in visual perception
GO:0070509 calcium ion import
GO:1901386 negative regulation of voltage-gated calcium channel activity

Diseases

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Disease IDSourceNameDescription
300600 OMIMAaland island eye disease (AIED)A retinal disease characterized by a combination of fundus hypopigmentation, decreased visual acuity due to foveal hypoplasia, nystagmus, astigmatism, protan color vision defect, myopia, and defective dark adaptation. Except for progression of axial myopia, the disease can be considered to be a stationary condition. Electroretinography reveals abnormalities in both photopic and scotopic functions. The disease is caused by variants affecting the gene represented in this entry.
300476 OMIMCone-rod dystrophy, X-linked 3 (CORDX3)An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. The disease is caused by variants affecting the gene represented in this entry.
300071 OMIMNight blindness, congenital stationary, 2A (CSNB2A)A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
CACNA1FFYNIntAct17474147 details
CACNA1FCABP4BioGRID, HPRD, IntAct15452577 27226626 details
CACNA1FRNF123BioGRID29676528 details