EFHD1 Gene

HGNC Family	EF-hand domain containing
Name	EF-hand domain family, member D1
Description	This gene encodes a member of the EF-hand super family of calcium binding proteins, which are involved in a variety of cellular processes including mitosis, synaptic transmission, and cytoskeletal rearrangement. The protein encoded by this gene is composed of an N-terminal disordered region, proline-rich elements, two EF-hands, and a C-terminal coiled-coil domain. This protein has been shown to associate with the mitochondrial inner membrane, and in HeLa cells, acts as a novel mitochondrial calcium ion sensor for mitochondrial flash activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n EFHD1 (also known as Swiprosin‐2) is an EF‐hand domain–containing adaptor protein that has been implicated in several cellular processes. Studies in renal cell models indicate that EFHD1 is one of several target genes regulated by hepatocyte nuclear factor 4α, with its proper expression contributing to HNF4α‐mediated inhibition of cell proliferation; dysregulation of this network may favor tumorigenesis in kidney cells."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In colorectal cancer, aberrant hypermethylation of EFHD1 has been observed in both tumor tissues and plasma samples, suggesting that its epigenetic alteration may serve as a useful biomarker for early detection."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Moreover, functional studies have demonstrated that EFHD1 acts as a novel mitochondrial Ca<sup>2+</sup> sensor, modulating Ca<sup>2+</sup>‐dependent “mitoflash” activity without affecting overall mitochondrial Ca<sup>2+</sup> handling or respiration."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Differential expression of EFHD1 has also been reported in tumor effusions, where its elevated expression in breast adenocarcinoma relative to lung adenocarcinoma may have diagnostic or therapeutic implications."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " In the context of pregnancy, proteomic analyses of placental tissues reveal that EFHD1 levels are developmentally regulated, decreasing in first‐trimester compared to full‐term placentas, which implies a potential role in placental development."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " Genetic association studies further suggest that loci near EFHD1 may be linked to schizophrenia susceptibility, indicating a possible involvement in neuropsychiatric processes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Finally, the generation of specific antibodies against EFHD1 has enabled detailed investigations into its expression patterns in immune cells, laying the groundwork for future studies into its functional roles in both neuronal and immune contexts."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Belén Lucas, Karen Grigo, Silke Erdmann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "HNF4alpha reduces proliferation of kidney cells and affects genes deregulated in renal cell carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncogene (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.onc.1208794"}], "href": "https://doi.org/10.1038/sj.onc.1208794"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16007190"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16007190"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Karen Grigo, Andrea Wirsing, Belén Lucas, et al. "}, {"type": "b", "children": [{"type": "t", "text": "HNF4 alpha orchestrates a set of 14 genes to down-regulate cell proliferation in kidney cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biol Chem (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1515/BC.2008.011"}], "href": "https://doi.org/10.1515/BC.2008.011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18163890"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18163890"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Kiyoko Takane, Yutaka Midorikawa, Koichi Yagi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Aberrant promoter methylation of PPP1R3C and EFHD1 in plasma of colorectal cancer patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Med (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/cam4.273"}], "href": "https://doi.org/10.1002/cam4.273"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24861485"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24861485"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Tingting Hou, Chongshu Jian, Jiejia Xu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of EFHD1 as a novel Ca(2+) sensor for mitoflash activation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Calcium (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ceca.2016.03.002"}], "href": "https://doi.org/10.1016/j.ceca.2016.03.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26975899"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26975899"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Ben Davidson, Helene Tuft Stavnes, Björn Risberg, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Gene expression signatures differentiate adenocarcinoma of lung and breast origin in effusions."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Pathol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.humpath.2011.06.015"}], "href": "https://doi.org/10.1016/j.humpath.2011.06.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21937081"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21937081"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Behrouz Gharesi-Fard, Jaleh Zolghadri, Eskandar Kamali-Sarvestani "}, {"type": "b", "children": [{"type": "t", "text": "Proteome differences in the first- and third-trimester human placentas."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Reprod Sci (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1177/1933719114549857"}], "href": "https://doi.org/10.1177/1933719114549857"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25201741"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25201741"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Anna Alkelai, Sara Lupoli, Lior Greenbaum, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of new schizophrenia susceptibility loci in an ethnically homogeneous, family-based, Arab-Israeli sample."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FASEB J (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1096/fj.11-184937"}], "href": "https://doi.org/10.1096/fj.11-184937"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21795503"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21795503"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Sebastian Brachs, Christiane Lang, Rolf Buslei, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Monoclonal antibodies to discriminate the EF hand containing calcium binding adaptor proteins EFhd1 and EFhd2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Monoclon Antib Immunodiagn Immunother (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1089/mab.2013.0014"}], "href": "https://doi.org/10.1089/mab.2013.0014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23909416"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23909416"}]}]}]}
Synonyms	PP3051, MST133, MSTP133, SWS2
Proteins	EFHD1_HUMAN
NCBI Gene ID	80303
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

EFHD1 has 7,365 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 116 datasets.

Click the + buttons to view associations for EFHD1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

EFHD1 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 EFHD1 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 EFHD1 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 EFHD1 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 EFHD1 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 EFHD1 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 EFHD1 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 EFHD1 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 EFHD1 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 EFHD1 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 EFHD1 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 EFHD1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of EFHD1 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 EFHD1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with EFHD1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with EFHD1 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 EFHD1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of EFHD1 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 EFHD1 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 EFHD1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing EFHD1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing EFHD1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with EFHD1 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 EFHD1 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 EFHD1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with EFHD1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with EFHD1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with EFHD1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with EFHD1 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 EFHD1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with EFHD1 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 EFHD1 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 EFHD1 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 EFHD1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with EFHD1 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 EFHD1 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 EFHD1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of EFHD1 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 EFHD1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with EFHD1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of EFHD1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.