CACNA1F Gene

HGNC Family	Ion channels
Name	calcium channel, voltage-dependent, L type, alpha 1F subunit
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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The CACNA1F gene encodes the pore‐forming α1 subunit of the Ca(v)1.4 L‐type calcium channel, which is predominantly expressed in retinal photoreceptors where it localizes to ribbon synapses and mediates the sustained, low‐voltage Ca²⁺ influx required for tonic glutamate release."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n Its unique biophysical properties—including activation at relatively negative potentials, unusually slow inactivation kinetics, and a lack of Ca²⁺‐dependent inactivation due to an intrinsic autoinhibitory domain in the C terminus—render Ca(v)1.4 ideally suited for translating graded photoreceptor membrane potential changes into continuous neurotransmitter release."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Mutations in CACNA1F disrupt these critical functions, leading to a spectrum of retinal disorders. Incomplete congenital stationary night blindness (CSNB2) is the best‐characterized phenotype and is associated with both loss‐of‐function and gain‐of‐function mutations that alter channel gating properties—such as a hyperpolarizing shift in voltage dependence or slowed inactivation—which in turn reduce the dynamic range of photoreceptor signaling."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "8", "end_ref": "10"}]}, {"type": "t", "text": "\n Moreover, studies of knock‐out and knock‐in mouse models demonstrate that abnormal Ca(v)1.4 channel activity leads to deficits in synaptic maturation, perturbed localization of synaptic proteins, and impaired retinal neurotransmission, which collectively contribute to vision loss."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}, {"type": "fg_f", "ref": "3"}, {"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition to CSNB2, rare CACNA1F mutations have been implicated in cone‐rod dystrophy (CORDX3), further underscoring the pivotal role of Ca(v)1.4 in regulating photoreceptor synaptic function and retinal signal transmission."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": "\n Finally, biochemical analyses have revealed that native Ca(v)1.4 channels participate in multiprotein complexes with specific auxiliary subunits, a composition that is key to their unique voltage‐dependent characteristics and pharmacological profile."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "14"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these findings highlight that CACNA1F is essential for the development, functional assembly, and maintenance of photoreceptor ribbon synapses, and that its dysregulation—through diverse genetic mutations—leads to a range of retinal dysfunctions by altering Ca²⁺ influx and synaptic signaling.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Fiona Mansergh, Noelle C Orton, John P Vessey, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddi336"}], "href": "https://doi.org/10.1093/hmg/ddi336"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16155113"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16155113"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Catherine W Morgans, Philippa R Bayley, Nicholas W Oesch, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Photoreceptor calcium channels: insight from night blindness."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Vis Neurosci (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1017/S0952523805225038"}], "href": "https://doi.org/10.1017/S0952523805225038"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16332266"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16332266"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Xiaoni Liu, Vasily Kerov, Françoise Haeseleer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dysregulation of Ca(v)1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Channels (Austin) (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4161/chan.26376"}], "href": "https://doi.org/10.4161/chan.26376"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24064553"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24064553"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Nawal Zabouri, Silke Haverkamp "}, {"type": "b", "children": [{"type": "t", "text": "Calcium channel-dependent molecular maturation of photoreceptor synapses."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0063853"}], "href": "https://doi.org/10.1371/journal.pone.0063853"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23675510"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23675510"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "John E McRory, Jawed Hamid, Clinton J Doering, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.4846-03.2004"}], "href": "https://doi.org/10.1523/JNEUROSCI.4846-03.2004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14973233"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14973233"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Alexandra Koschak, Daniel Reimer, Doris Walter, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cav1.4alpha1 subunits can form slowly inactivating dihydropyridine-sensitive L-type Ca2+ channels lacking Ca2+-dependent inactivation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2003)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12853422"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12853422"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Christian Wahl-Schott, Ludwig Baumann, Hartmut Cuny, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Switching off calcium-dependent inactivation in L-type calcium channels by an autoinhibitory domain."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0604621103"}], "href": "https://doi.org/10.1073/pnas.0604621103"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17028172"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17028172"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Jean-Charles Hoda, Francesca Zaghetto, Alexandra Koschak, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.3054-04.2005"}], "href": "https://doi.org/10.1523/JNEUROSCI.3054-04.2005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15634789"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15634789"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Mieke M C Bijveld, Ralph J Florijn, Arthur A B Bergen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genotype and phenotype of 101 dutch patients with congenital stationary night blindness."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ophthalmology (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ophtha.2013.03.002"}], "href": "https://doi.org/10.1016/j.ophtha.2013.03.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23714322"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23714322"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Ariana Hemara-Wahanui, Stanislav Berjukow, Carolyn I Hope, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0501907102"}], "href": "https://doi.org/10.1073/pnas.0501907102"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15897456"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15897456"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Patrick J Killela, Christopher J Pirozzi, Zachary J Reitman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The genetic landscape of anaplastic astrocytoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncotarget (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.18632/oncotarget.1505"}], "href": "https://doi.org/10.18632/oncotarget.1505"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24140581"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24140581"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "R Jalkanen, M Mäntyjärvi, R Tobias, et al. "}, {"type": "b", "children": [{"type": "t", "text": "X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmg.2006.040741"}], "href": "https://doi.org/10.1136/jmg.2006.040741"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16505158"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16505158"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Krisztina Wutz, Christian Sauer, Eberhart Zrenner, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.ejhg.5200828"}], "href": "https://doi.org/10.1038/sj.ejhg.5200828"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12111638"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12111638"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Amy Lee, Shiyi Wang, Brittany Williams, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of Cav1.4 complexes (α11.4, β2, and α2δ4) in HEK293T cells and in the retina."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M114.607465"}], "href": "https://doi.org/10.1074/jbc.M114.607465"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25468907"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25468907"}]}]}]}
Synonyms	CORDX, COD3, CSNBX2, CORDX3, CSNB2, CAV1.4, COD4, CSNB2A, JMC8, OA2, CAV1.4ALPHA1, AIED, JM8
Proteins	CAC1F_HUMAN
NCBI Gene ID	778
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CACNA1F has 4,322 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 116 datasets.

Click the + buttons to view associations for CACNA1F from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CACNA1F Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by CACNA1F gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CACNA1F gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of CACNA1F gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of CACNA1F gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CACNA1F gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of CACNA1F gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CACNA1F gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CACNA1F gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of CACNA1F gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of CACNA1F gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of CACNA1F gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with CACNA1F gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with CACNA1F gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CACNA1F gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CACNA1F gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of CACNA1F gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with CACNA1F gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with CACNA1F gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of CACNA1F gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CACNA1F protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CACNA1F protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with CACNA1F protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with CACNA1F protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of CACNA1F gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CACNA1F gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with CACNA1F gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with CACNA1F gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CACNA1F gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving CACNA1F gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving CACNA1F gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with CACNA1F gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with CACNA1F gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with CACNA1F gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CACNA1F gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for CACNA1F protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at CACNA1F gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CACNA1F gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of CACNA1F gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing CACNA1F from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with CACNA1F gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.