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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; 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:
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 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X49,061,523 - 49,089,833 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,948,467 - 48,976,777 (-)NCBINCBI36hg18NCBI36
Build 34X48,817,894 - 48,846,204NCBI
CeleraX52,574,536 - 52,602,846 (+)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,718,790 - 46,746,229 (-)NCBIHuRef
CHM1_1X49,093,823 - 49,122,134 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on CACNA1F
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 731992
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.