CHRNG Gene

HGNC Family	Ion channels, Cholinergic receptors
Name	cholinergic receptor, nicotinic, gamma (muscle)
Description	The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nCHRNG encodes the gamma (γ) subunit of the fetal (embryonal) acetylcholine receptor (AChR), a pivotal component for proper neuromuscular junction formation and signal transduction during early development. At this stage, the γ subunit is exclusively expressed and later replaced by the ε subunit in mature muscle. Mutations in CHRNG can prevent correct receptor localization and disrupt neuromuscular organogenesis, resulting in congenital disorders such as Escobar syndrome and various forms of multiple pterygium syndrome. A series of linkage studies and mutation analyses in affected families have revealed inactivating, missense, and nonsense variants in CHRNG that underlie clinical features including joint contractures, pterygia, facial dysmorphism, and, in severe cases, fetal akinesia coupled with growth failure."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAlthough CHRNG expression is predominantly confined to embryonic muscle, its locus is not functionally isolated to early development. Recent population-based genetic studies have extended its significance by implicating variation within gene clusters containing CHRNG (notably in the CHRND‐CHRNG region) in adult phenotypes such as nicotine dependence. These studies report that specific single nucleotide polymorphisms in these regions may modulate the risk for nicotine dependence—with evidence of divergent effects among different ethnic groups—and further suggest that subtle alterations in cholinergic receptor signaling might also impact systemic blood pressure regulation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "11"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nComplementing the genetic and clinical findings, biochemical studies directed at the extracellular domain of the CHRNG subunit have provided key structural insights. Modifications—especially in the Cys‐loop region—have been shown to improve receptor conformation and antigenicity, which is critical for both understanding AChR function and its antigenic properties in autoimmune contexts. Moreover, aberrant CHRNG transcript expression has been observed in pathologic conditions such as rhabdomyosarcoma, reinforcing the notion that the structure–function relationship of the CHRNG subunit plays a role not only in normal neuromuscular development but also in disease states."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Katrin Hoffmann, Juliane S Muller, Sigmar Stricker, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/506257"}], "href": "https://doi.org/10.1086/506257"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16826520"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16826520"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Neil V Morgan, Louise A Brueton, Phillip Cox, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/506256"}], "href": "https://doi.org/10.1086/506256"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16826531"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16826531"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Julie Vogt, Neil V Morgan, Pauline Rehal, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CHRNG genotype-phenotype correlations in the multiple pterygium syndromes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmedgenet-2011-100378"}], "href": "https://doi.org/10.1136/jmedgenet-2011-100378"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22167768"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22167768"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Ki Hyuk Sung, Sang-Heon Lee, Namshin Kim, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Pediatr Orthop B (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/BPB.0000000000000119"}], "href": "https://doi.org/10.1097/BPB.0000000000000119"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25411939"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25411939"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Jieun Seo, In-Ho Choi, Je Sang Lee, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hum Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/jhg.2015.2"}], "href": "https://doi.org/10.1038/jhg.2015.2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25608830"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25608830"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Ariana Kariminejad, Navid Almadani, Atefeh Khoshaeen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12863-016-0382-5"}], "href": "https://doi.org/10.1186/s12863-016-0382-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27245440"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27245440"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Gulab Sher, Muhammad Naeem "}, {"type": "b", "children": [{"type": "t", "text": "Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Test Mol Biomarkers (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1089/gtmb.2018.0122"}], "href": "https://doi.org/10.1089/gtmb.2018.0122"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30461311"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30461311"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Laura Carrera-García, Daniel Natera-de Benito, Klaus Dieterich, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.61122"}], "href": "https://doi.org/10.1002/ajmg.a.61122"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30868735"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30868735"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Patrick F McArdle, Sue Rutherford, Braxton D Mitchell, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2350-9-67"}], "href": "https://doi.org/10.1186/1471-2350-9-67"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18625075"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18625075"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Nancy L Saccone, Scott F Saccone, Anthony L Hinrichs, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet B Neuropsychiatr Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.b.30828"}], "href": "https://doi.org/10.1002/ajmg.b.30828"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19259974"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19259974"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "N L Saccone, T-H Schwantes-An, J C Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Brain Behav (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1601-183X.2010.00608.x"}], "href": "https://doi.org/10.1111/j.1601-183X.2010.00608.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20584212"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20584212"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Kalliopi Bitzopoulou, Kalliopi Kostelidou, Konstantinos Poulas, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutant forms of the extracellular domain of the human acetylcholine receptor gamma-subunit with improved solubility and enhanced antigenicity. The importance of the Cys-loop."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbapap.2008.04.023"}], "href": "https://doi.org/10.1016/j.bbapap.2008.04.023"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18502212"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18502212"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Bin Chang, Li Juan Pang, Yan Qi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PAX--FKHR fusion genes and AChR-gamma in Chinese patients with rhabdomyosarcoma: diagnosis using formalin-fixed archival tissues."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Surg Pathol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1177/1066896908323922"}], "href": "https://doi.org/10.1177/1066896908323922"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18988640"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18988640"}]}]}]}
Synonyms	ACHRG
Proteins	ACHG_HUMAN
NCBI Gene ID	1146
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CHRNG has 3,813 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 111 datasets.

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

If available, associations are ranked by standardized value

Harmonizome 3.0

CHRNG 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 CHRNG 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 CHRNG 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 CHRNG 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 CHRNG 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 CHRNG 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 CHRNG gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	Biocarta Pathways	pathways involving CHRNG protein from the Biocarta Pathways dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of CHRNG 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 CHRNG 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 CHRNG 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 CHRNG gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of CHRNG 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 CHRNG gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CHRNG gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CHRNG 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 CHRNG 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 CHRNG gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with CHRNG 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 CHRNG gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CHRNG protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CHRNG protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with CHRNG 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 CHRNG 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 CHRNG gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CHRNG gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with CHRNG gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with CHRNG gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CHRNG gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving CHRNG gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with CHRNG gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with CHRNG 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 CHRNG 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 CHRNG gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CHRNG gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for CHRNG protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at CHRNG 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 CHRNG gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of CHRNG 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 CHRNG from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with CHRNG gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.