Gene: CACNA1F (calcium voltage-gated channel subunit alpha1 F) Homo sapiens
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Symbol: CACNA1F
Name: calcium voltage-gated channel subunit alpha1 F
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AIED; Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2); calcium channel, voltage-dependent, alpha 1f subunit; calcium channel, voltage-dependent, L type, alpha 1F subunit; Cav1.4; Cav1.4alpha1; COD3; COD4; CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2; OTTHUMP00000024299; OTTHUMP00000032032; OTTHUMP00000216983; voltage gated calcium channel alpha 1F subunit; voltage-dependent L-type calcium channel subunit alpha-1F; voltage-gated calcium channel subunit alpha Cav1.4
Orthologs:
Mus musculus (house mouse) : Cacna1f (calcium channel, voltage-dependent, alpha 1F subunit)  MGI
Rattus norvegicus (Norway rat) : Cacna1f (calcium voltage-gated channel subunit alpha1 F)
Chinchilla lanigera (long-tailed chinchilla) : Cacna1f (calcium voltage-gated channel subunit alpha1 F)
Pan paniscus (bonobo/pygmy chimpanzee) : CACNA1F (calcium voltage-gated channel subunit alpha1 F)
Canis lupus familiaris (dog) : CACNA1F (calcium voltage-gated channel subunit alpha1 F)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Cacna1f (calcium voltage-gated channel subunit alpha1 F)
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Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X49,205,063 - 49,233,404 (-)NCBIGRCh38hg38GRCh38
GRCh37X49,061,523 - 49,089,833 (-)NCBIGRCh37hg19GRCh37
Build 36X48,948,467 - 48,976,777 (-)NCBINCBI36hg18NCBI36
Build 34X48,817,894 - 48,846,204NCBI
CeleraX52,574,536 - 52,602,846 (+)NCBI
Cytogenetic MapXp11.23NCBImapview
HuRefX46,718,790 - 46,746,229 (-)NCBI
CHM1_1X49,093,823 - 49,122,134 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
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References - uncurated
RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on CACNA1F
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
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RGD Object Information
RGD ID: 731992
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2017-09-05
Status: ACTIVE