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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: Exhibits high voltage-gated calcium channel activity. Involved in detection of light stimulus involved in visual perception and negative regulation of voltage-gated calcium channel activity. Localizes to the voltage-gated calcium channel complex. Implicated in Aland Island eye disease; X-linked cone-rod dystrophy 3; congenital stationary night blindness; and congenital stationary night blindness 2A.
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
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References - uncurated

Genomics

Comparative Map Data
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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

RGD Object Information
RGD ID: 731992
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-10-16
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.