CACNA1H Gene

HGNC Family	Ion channels
Name	calcium channel, voltage-dependent, T type, alpha 1H subunit
Description	This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CACNA1H encodes the Cav3.2 T‐type calcium channel, a voltage‐dependent channel that plays diverse roles in both endocrine and neuronal tissues. In the adrenal glomerulosa, gain‐of‐function mutations in CACNA1H alter channel gating—shifting activation to more hyperpolarized potentials and impairing inactivation—which increases calcium influx and, in turn, stimulates aldosterone synthesis and cell proliferation. Such mutations have been implicated in early onset primary aldosteronism and secondary hypertension."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In the central nervous system, CACNA1H variants have been associated with various forms of idiopathic generalized epilepsy, including childhood absence epilepsy. Functional studies reveal that these mutations often change channel properties to augment calcium current—either by altering voltage dependence of activation/inactivation or by increasing surface expression—which enhances neuronal excitability and predisposes to seizures."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "7"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Furthermore, genome‐wide association studies in hypertensive populations have also identified CACNA1H as a potential candidate gene influencing blood pressure regulation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": " Collectively, these findings underscore that aberrant function of the Cav3.2 channel—whether via de novo, germline or rare polymorphic variants—disrupts normal calcium signaling. This disruption contributes to dysregulated hormone secretion in adrenal pathology and to increased neuronal excitability underlying epileptogenesis.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Ute I Scholl, Gerald Goh, Gabriel Stölting, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.2695"}], "href": "https://doi.org/10.1038/ng.2695"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23913001"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23913001"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Ute I Scholl, Gabriel Stölting, Carol Nelson-Williams, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Elife (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7554/eLife.06315"}], "href": "https://doi.org/10.7554/eLife.06315"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25907736"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25907736"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Georgios Daniil, Fabio L Fernandes-Rosa, Jean Chemin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EBioMedicine (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ebiom.2016.10.002"}], "href": "https://doi.org/10.1016/j.ebiom.2016.10.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27729216"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27729216"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Yucai Chen, Jianjun Lu, Hong Pan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association between genetic variation of CACNA1H and childhood absence epilepsy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Neurol (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ana.10607"}], "href": "https://doi.org/10.1002/ana.10607"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12891677"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12891677"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Houman Khosravani, Christophe Altier, Brett Simms, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.C400006200"}], "href": "https://doi.org/10.1074/jbc.C400006200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14729682"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14729682"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Sarah E Heron, Houman Khosravani, Diego Varela, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Neurol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ana.21169"}], "href": "https://doi.org/10.1002/ana.21169"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17696120"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17696120"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Kim L Powell, Stuart M Cain, Caroline Ng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A Cav3.2 T-type calcium channel point mutation has splice-variant-specific effects on function and segregates with seizure expression in a polygenic rat model of absence epilepsy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.5295-08.2009"}], "href": "https://doi.org/10.1523/JNEUROSCI.5295-08.2009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19144837"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19144837"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Adebowale Adeyemo, Norman Gerry, Guanjie Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A genome-wide association study of hypertension and blood pressure in African Americans."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1000564"}], "href": "https://doi.org/10.1371/journal.pgen.1000564"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19609347"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19609347"}]}]}]}
Synonyms	EIG6, CAV3.2, ECA6, CACNA1HB, HALD4
Proteins	CAC1H_HUMAN
NCBI Gene ID	8912
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CACNA1H has 6,436 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 118 datasets.

Click the + buttons to view associations for CACNA1H from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CACNA1H Gene

Functional Associations

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

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CACNA1H gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of CACNA1H gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of CACNA1H gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of CACNA1H gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CACNA1H 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 CACNA1H 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 CACNA1H 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 CACNA1H gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of CACNA1H 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 CACNA1H gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with CACNA1H 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 CACNA1H gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CACNA1H 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 CACNA1H gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of CACNA1H gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CACNA1H protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CACNA1H protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with CACNA1H 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 CACNA1H 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 CACNA1H gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CACNA1H gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with CACNA1H gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with CACNA1H gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CACNA1H gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving CACNA1H gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving CACNA1H gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with CACNA1H 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 CACNA1H 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 CACNA1H gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CACNA1H gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for CACNA1H protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at CACNA1H 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 CACNA1H gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of CACNA1H 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 CACNA1H from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with CACNA1H gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with CACNA1H gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of CACNA1H gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with CACNA1H gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing CACNA1H from the GeneSigDB Published Gene Signatures dataset.