EFHC1 Gene

HGNC Family	EF-hand domain containing
Name	EF-hand domain (C-terminal) containing 1
Description	This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n EFHC1 encodes a multifunctional protein characterized by an EF‐hand calcium‐binding motif and several DM10 domains that plays important roles in both the regulation of calcium‐mediated signaling and in the developmental assembly of neural circuits. Functional studies have demonstrated that EFHC1 directly modulates calcium dynamics by enhancing R‐type voltage‐dependent Ca<sup>2+</sup> currents and by interacting with Ca<sup>2+</sup>–permeable channels such as Ca(v)2.3 and TRPM2, thereby influencing neuronal apoptosis and excitability; notably, overexpression of EFHC1 in hippocampal neurons induces apoptosis that is attenuated by mutations associated with juvenile myoclonic epilepsy (JME)."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": " In parallel, subcellular localization studies have revealed that EFHC1 associates with the centrosome, the mitotic spindle, and the midbody, supporting a role as a microtubule‐associated protein that is crucial for proper cell division and neuronal migration; disruptions in these processes have been implicated in structural brain abnormalities underlying epilepsy."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Moreover, biophysical analyses indicate that the EFHC1 C-terminal region binds Ca<sup>2+</sup> in an enthalpically driven manner and may dimerize via disulfide bonds under oxidizing conditions, suggesting that alterations in redox state could modulate its function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " Genetic studies in diverse populations further support that mutations in EFHC1, by impairing both its channel regulatory and cell division functions, contribute to the pathogenesis of JME, potentially through a dominant-negative mechanism that disrupts microtubule organization and normal neuronal network formation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Toshimitsu Suzuki, Antonio V Delgado-Escueta, Kripamoy Aguan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in EFHC1 cause juvenile myoclonic epilepsy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng1393"}], "href": "https://doi.org/10.1038/ng1393"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15258581"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15258581"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "M A Kamp, A Krieger, M Henry, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Presynaptic 'Ca2.3-containing' E-type Ca channels share dual roles during neurotransmitter release."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Neurosci (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1460-9568.2005.03984.x"}], "href": "https://doi.org/10.1111/j.1460-9568.2005.03984.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15845089"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15845089"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Masahiro Katano, Tomohiro Numata, Kripamoy Aguan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Calcium (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ceca.2011.12.011"}], "href": "https://doi.org/10.1016/j.ceca.2011.12.011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22226147"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22226147"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Laurence de Nijs, Bernard Lakaye, Bernard Coumans, et al. "}, {"type": "b", "children": [{"type": "t", "text": "EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Exp Cell Res (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.yexcr.2006.05.011"}], "href": "https://doi.org/10.1016/j.yexcr.2006.05.011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16824517"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16824517"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Laurence de Nijs, Nathalie Wolkoff, Thierry Grisar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Juvenile myoclonic epilepsy as a possible neurodevelopmental disease: role of EFHC1 or Myoclonin1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Epilepsy Behav (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.yebeh.2012.06.034"}], "href": "https://doi.org/10.1016/j.yebeh.2012.06.034"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23756481"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23756481"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Marcelo J Murai, Rogério C Sassonia, André H Zamboni, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of the C-terminal half of human juvenile myoclonic epilepsy protein EFHC1: dimer formation blocks Ca2+ and Mg2+ binding to its functional EF-hand."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Arch Biochem Biophys (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.abb.2008.06.008"}], "href": "https://doi.org/10.1016/j.abb.2008.06.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18593566"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18593566"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Praveen K Raju, Parthasarathy Satishchandra, Sourav Nayak, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.23221"}], "href": "https://doi.org/10.1002/humu.23221"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28370826"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28370826"}]}]}]}
Synonyms	EJM1, DJ304B14.2
Proteins	EFHC1_HUMAN
NCBI Gene ID	114327
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

EFHC1 has 5,609 functional associations with biological entities spanning 8 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) extracted from 121 datasets.

Click the + buttons to view associations for EFHC1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

EFHC1 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 EFHC1 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 EFHC1 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 EFHC1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse 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 EFHC1 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 EFHC1 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 EFHC1 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 EFHC1 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 EFHC1 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 EFHC1 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 EFHC1 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 EFHC1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of EFHC1 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 EFHC1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with EFHC1 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 EFHC1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of EFHC1 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 EFHC1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with EFHC1 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 EFHC1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing EFHC1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing EFHC1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing EFHC1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing EFHC1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with EFHC1 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 EFHC1 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 EFHC1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with EFHC1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with EFHC1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with EFHC1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with EFHC1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by EFHC1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving EFHC1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving EFHC1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with EFHC1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with EFHC1 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 EFHC1 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 EFHC1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with EFHC1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at EFHC1 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 EFHC1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.