CHRNE Gene

HGNC Family	Cholinergic receptors, Ion channels
Name	cholinergic receptor, nicotinic, epsilon (muscle)
Description	Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nThe CHRNE gene encodes the epsilon (ε) subunit of the muscle‐type nicotinic acetylcholine receptor (AChR), a fundamental component in mediating neuromuscular transmission. Functional studies of CHRNE mutations—such as the εL221F mutation, which reduces agonist dissociation and prolongs channel open times, and the εV265A substitution that enhances gating efficiency—demonstrate that subtle alterations in this subunit can dramatically slow channel kinetics and prolong synaptic currents. In addition, defects leading to aberrant splicing (for example, a frameshifting deletion that creates a cryptic splice donor site) further emphasize the critical need for precise CHRNE expression for optimal receptor performance."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nPrecise transcriptional regulation of CHRNE is essential for the formation and maintenance of the neuromuscular junction. Neural agrin signaling directs the recruitment of transcription factor GABP and the histone acetyltransferase p300 to the CHRNE promoter, thereby promoting chromatin remodeling events (such as histone hyperacetylation) that drive robust AChR expression. A wide spectrum of CHRNE mutations—including intronic base alterations that trigger cryptic splicing, truncating mutations like ε1293insG, and several founder mutations identified in diverse populations (from North Africa, Brazil, and Northwestern Europe)—have been implicated in congenital myasthenic syndromes (CMS), highlighting the gene’s role in determining disease severity and phenotype."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "11"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nCollectively, these observations underscore the multifaceted role of CHRNE in neuromuscular function. By governing both the gating kinetics and the expression levels of AChRs at the motor endplate, CHRNE ensures efficient synaptic transmission. Disruptions in its function—whether by kinetic impairment or by diminished receptor expression—compromise neuromuscular communication and underlie the pathogenesis of various forms of CMS. Greater insight into these molecular defects holds promise for the development of targeted therapies aimed at restoring normal receptor function and ameliorating clinical symptoms."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}, {"type": "fg_fs", "start_ref": "4", "end_ref": "9"}, {"type": "fg_f", "ref": "3"}, {"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "C J Hatton, C Shelley, M Brydson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Properties of the human muscle nicotinic receptor, and of the slow-channel myasthenic syndrome mutant epsilonL221F, inferred from maximum likelihood fits."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Physiol (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1113/jphysiol.2002.034173"}], "href": "https://doi.org/10.1113/jphysiol.2002.034173"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12562900"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12562900"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Kinji Ohno, Margherita Milone, Xin-Ming Shen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A frameshifting mutation in CHRNE unmasks skipping of the preceding exon."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddg334"}], "href": "https://doi.org/10.1093/hmg/ddg334"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14532324"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14532324"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Xin-Ming Shen, Tatsuya Okuno, Margherita Milone, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.23043"}], "href": "https://doi.org/10.1002/humu.23043"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27375219"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27375219"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "J S Müller, R Stucka, S Neudecker, et al. "}, {"type": "b", "children": [{"type": "t", "text": "An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/01.wnl.0000172346.26219.fd"}], "href": "https://doi.org/10.1212/01.wnl.0000172346.26219.fd"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16087917"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16087917"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Aymeric Ravel-Chapuis, Marie Vandromme, Jean-Luc Thomas, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Postsynaptic chromatin is under neural control at the neuromuscular junction."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.emboj.7601572"}], "href": "https://doi.org/10.1038/sj.emboj.7601572"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17304221"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17304221"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "P Richard, K Gaudon, H Haddad, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/01.wnl.0000336921.51639.0b"}], "href": "https://doi.org/10.1212/01.wnl.0000336921.51639.0b"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19064877"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19064877"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Catharina G Faber, Peter C Molenaar, Johannes S H Vles, et al. "}, {"type": "b", "children": [{"type": "t", "text": "AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00415-009-5190-7"}], "href": "https://doi.org/10.1007/s00415-009-5190-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19544078"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19544078"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Mustafa A Salih, Darren T Oystreck, Yasser H Al-Faky, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neuroophthalmol (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/WNO.0b013e3181f50bea"}], "href": "https://doi.org/10.1097/WNO.0b013e3181f50bea"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21150643"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21150643"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "R A Maselli, J Arredondo, O Cagney, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1399-0004.2010.01602.x"}], "href": "https://doi.org/10.1111/j.1399-0004.2010.01602.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21175599"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21175599"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Sharon Aharoni, Menachem Sadeh, Yehuda Shapira, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Congenital myasthenic syndrome in Israel: Genetic and clinical characterization."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuromuscul Disord (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.nmd.2016.11.014"}], "href": "https://doi.org/10.1016/j.nmd.2016.11.014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28024842"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28024842"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Eduardo de Paula Estephan, Cláudia Ferreira da Rosa Sobreira, André Clériston José Dos Santos, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00415-018-8736-8"}], "href": "https://doi.org/10.1007/s00415-018-8736-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29383513"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29383513"}]}]}]}
Synonyms	ACHRE, CMS4B, CMS4A, CMS4C, CMS1E
Proteins	ACHE_HUMAN
NCBI Gene ID	1145
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CHRNE has 4,731 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 109 datasets.

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

If available, associations are ranked by standardized value

Harmonizome 3.0

CHRNE 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 CHRNE 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 CHRNE 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 CHRNE 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 CHRNE 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 CHRNE 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 CHRNE 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 CHRNE 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 CHRNE 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 CHRNE 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 CHRNE 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 CHRNE gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with CHRNE protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with CHRNE 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 CHRNE gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CHRNE 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 CHRNE 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 CHRNE 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 CHRNE gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CHRNE protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CHRNE protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with CHRNE 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 CHRNE protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CHRNE gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with CHRNE gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with CHRNE gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CHRNE gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving CHRNE gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving CHRNE gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with CHRNE 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 CHRNE 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 CHRNE 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 CHRNE gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CHRNE gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for CHRNE protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at CHRNE 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 CHRNE gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of CHRNE 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 CHRNE from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with CHRNE gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with CHRNE gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.