Nomenclature: ε

Family: Nicotinic acetylcholine receptors

Annotation status:  image of a green circle Annotated and expert reviewed. Please contact us if you can help with updates. 


Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 4 493 17p13-p12 CHRNE cholinergic receptor, nicotinic, epsilon (muscle) 1
Mouse 4 493 11 B3 Chrne cholinergic receptor, nicotinic, epsilon polypeptide 2
Rat 4 494 10q24 Chrne cholinergic receptor, nicotinic, epsilon (muscle) 10
Previous and Unofficial Names
cholinergic receptor, nicotinic, epsilon
acetylcholine receptor, nicotinic, epsilon (muscle)
acetylcholine receptor epsilon
acetylcholine receptor subunit epsilon
cholinergic receptor, nicotinic, epsilon polypeptide
gene for acetylcholine receptor epsilon subunit
Database Links
ChEMBL Target
Ensembl Gene
Entrez Gene
GenitoUrinary Development Molecular Anatomy Project
Human Protein Reference Database
Orphanet Gene
PharmGKB Gene
Protein Ontology (PRO)
RefSeq Nucleotide
RefSeq Protein
UniGene Hs.
Natural/Endogenous Ligands
Tissue Distribution Comments
The ε-subunit mRNA is expressed in vertebrate skeletal muscle. Whereas expression of the γ-subunit predominates in embryonic muscle, expression of the ε-subunit occurs during early neonatal development and persists in adult muscle.
Physiological Consequences of Altering Gene Expression
In knockout mice, loss of the ε-subunit is partially compensated by expression of the γ-subunit, but results in premature death 2 to 3 months after birth. Mice display impaired neuromuscular transmission, progressive muscle weakness and atrophy.
Species:  Mouse
Tissue:  in vivo
Technique:  Gene knockout
References:  8-9
Mice with an ε-subunit null mutation associated with the human AChR deficiency syndrome die between 10 and 14 weeks after birth. However, mice with the ε null mutation but which also consitutively express the human γ-subunit survive into adult life.
Species:  Mouse
Tissue:  in vivo
Technique:  Knock-in
References:  3
Clinically-Relevant Mutations and Pathophysiology
Disease:  Congenital myasthenic syndromes
OMIM:  100725
References:  6-7
Mutations not determined
Disease:  Congenital myasthenic syndrome associated with severe end-plate AChR deficiency
OMIM:  608931
Orphanet:  98913
References:  4
Click column headers to sort
Type Species Molecular location Description Reference
Frameshift/nonsense Human Multiple 4
Disease:  Fast-channel congenital myasthenic syndromes
OMIM:  608930
Orphanet:  98913
References:  5,7
Click column headers to sort
Type Species Molecular location Description Reference
Frameshift Human Multiple 5-7
Missense Human Multiple 5-7
Disease:  Slow-channel congenital myasthenic syndromes
OMIM:  601462
Orphanet:  98913
References:  5,7
Click column headers to sort
Type Species Molecular location Description Reference
Missense Human Multiple 5,7


1. Beeson D, Brydson M, Betty M, Jeremiah S, Povey S, Vincent A, Newsom-Davis J. (1993) Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits. Eur. J. Biochem.215 (2): 229-38. [PMID:7688301]

2. Buonanno A, Mudd J, Merlie JP. (1989) Isolation and characterization of the beta and epsilon subunit genes of mouse muscle acetylcholine receptor. J. Biol. Chem.264 (13): 7611-6. [PMID:2708381]

3. Cossins J, Webster R, Maxwell S, Burke G, Vincent A, Beeson D. (2004) A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition. Hum. Mol. Genet.13 (23): 2947-57. [PMID:15471888]

4. Engel AG, Ohno K, Bouzat C, Sine SM, Griggs RC. (1996) End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit. Ann. Neurol.40 (5): 810-7. [PMID:8957026]

5. Engel AG, Ohno K, Sine SM. (2003) Congenital myasthenic syndromes: A diverse array of molecular targets. J. Neurocytol.32 (5-8): 1017-37. [PMID:15034283]

6. Engel AG, Ohno K, Sine SM. (2003) Sleuthing molecular targets for neurological diseases at the neuromuscular junction. Nat. Rev. Neurosci.4 (5): 339-52. [PMID:12728262]

7. Engel AG, Shen XM, Selcen D, Sine SM. (2010) What have we learned from the congenital myasthenic syndromes. J. Mol. Neurosci.40 (1-2): 143-53. [PMID:19688192]

8. Missias AC, Mudd J, Cunningham JM, Steinbach JH, Merlie JP, Sanes JR. (1997) Deficient development and maintenance of postsynaptic specializations in mutant mice lacking an 'adult' acetylcholine receptor subunit. Development124 (24): 5075-86. [PMID:9362465]

9. Witzemann V, Schwarz H, Koenen M, Berberich C, Villarroel A, Wernig A, Brenner HR, Sakmann B. (1996) Acetylcholine receptor epsilon-subunit deletion causes muscle weakness and atrophy in juvenile and adult mice. Proc. Natl. Acad. Sci. U.S.A.93 (23): 13286-91. [PMID:8917583]

10. Witzemann V, Stein E, Barg B, Konno T, Koenen M, Kues W, Criado M, Hofmann M, Sakmann B. (1990) Primary structure and functional expression of the alpha-, beta-, gamma-, delta- and epsilon-subunits of the acetylcholine receptor from rat muscle. Eur. J. Biochem.194 (2): 437-48. [PMID:1702709]

To cite this database page, please use the following:

Cecilia Gotti, Michael. J. Marks, Neil S. Millar, Susan Wonnacott.
Nicotinic acetylcholine receptors: ε. Last modified on 17/03/2014. Accessed on 24/10/2014. IUPHAR database (IUPHAR-DB),

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