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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]
CHRNE (Cholinergic Receptor Nicotinic Epsilon Subunit) is a Protein Coding gene. Diseases associated with CHRNE include Myasthenic Syndrome, Congenital, 4A, Slow-Channel and Myasthenic Syndrome, Congenital, 4B, Fast-Channel. Among its related pathways are Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include extracellular ligand-gated ion channel activity. An important paralog of this gene is CHRNG.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004888 | transmembrane signaling receptor activity | IEA | -- |
GO:0005216 | ion channel activity | IEA | -- |
GO:0005230 | extracellular ligand-gated ion channel activity | IEA | -- |
GO:0008324 | cation transmembrane transporter activity | TAS | 8872460 |
GO:0015464 | acetylcholine receptor activity | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS,IBA | 21873635 |
GO:0005892 | acetylcholine-gated channel complex | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Postsynaptic nicotinic acetylcholine receptors | ||
2 | Transmission across Chemical Synapses |
.62
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|
3 | Peptide ligand-binding receptors | ||
4 | Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics | ||
5 | Nanog in Mammalian ESC Pluripotency |
eNOS Signaling
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006936 | muscle contraction | TAS | 8872460 |
GO:0007165 | signal transduction | TAS,IBA | 21873635 |
GO:0007268 | chemical synaptic transmission | IBA | 21873635 |
GO:0007271 | synaptic transmission, cholinergic | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Acetylcysteine | Approved, Investigational | Pharma | Antioxidant;mucolytic agent | 427 | ||
Atropine | Approved, Vet_approved | Pharma | Antagonist | MAChRs antagonist | 208 | |
Gallamine Triethiodide | Approved | Pharma | 0 | |||
Homatropine Methylbromide | Approved | Pharma | Muscarinic AChR antagonist | 0 | ||
Hyoscyamine | Approved | Pharma | 6 |
Compound | Action | Cas Number |
---|---|---|
Acetylcholine Chloride | Major transmitter at many nervous sites | 60-31-1 |
Acetylcysteine | Antioxidant;mucolytic agent | 616-91-1 |
Atropine | MAChRs antagonist | 5908-99-6 |
Benzethonium Chloride | 121-54-0 | |
Bethanechol chloride | Muscarinic receptor agonist | 590-63-6 |
Decamethonium Bromide | 541-22-0 | |
Diphemanil Methylsulfate | 62-97-5 | |
Flavoxate hydrochloride | 3717-88-2 | |
Galanthamine HBr | Acetylcholinesterase inhibitor | 1953-04-4 |
Gallamine Triethiodide | 65-29-2 | |
Hexamethonium Bromide | 55-97-0 | |
Homatropine Bromide | Muscarinic AChR antagonist | 51-56-9 |
Homatropine Methylbromide | Muscarinic AChR antagonist | 80-49-9 |
Hyoscyamine | 101-31-5 | |
Ipratropium Bromide | 22254-24-6 | |
LY2119620 | 886047-22-9 | |
Methscopolamine | Muscarinic acetylcholine receptor blocker | 155-41-9 |
Neostigmine Bromide | Cholinesterase inhibitor | 114-80-7 |
Nicotine Difartrate | 65-31-6 | |
Nitenpyram | 150824-47-8 | |
Orphenadrine Citrate | Antiparkinsonian and analgesic drug | 4682-36-4 |
Otilonium Bromide | 26095-59-0 | |
Oxybutynin | 5633-20-5 | |
Oxybutynin chloride | 1508-65-2 | |
Pancuronium dibromide | AChR antagonist | 15500-66-0 |
Paroxetine HCl | Antidepressant agents | 78246-49-8 |
Pentoxyverine Citrate | 23142-01-0 | |
Pilocarpine HCl | 54-71-7 | |
PNU-120596 | α7 nAChR modulator,positive allosteric | 501925-31-1 |
Pregnenolone | 145-13-1 | |
Rivastigmine Tartrate | 129101-54-8 | |
Rocuronium Bromide | TGF-βR I kinase inhibitor | 119302-91-9 |
Succinylcholine Chloride Dihydrate | 6101-15-1 | |
Tiotropium Bromide hydrate | Muscarinic antagonist | 139404-48-1 |
Tropicamide | Antimuscarinic drug | 1508-75-4 |
Trospium chloride | Antimuscarinic agent | 10405-02-4 |
Varenicline Tartrate | Subtype-selective agonist of α4β2 nicotinic receptors,orally active | 375815-87-5 |
Vecuronium Bromide | Nonpolarizing neuromuscular relaxant | 50700-72-6 |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||
SP2: | |||||||||||||||||||||
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CHRNE 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CHRNE 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CHRNE 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Chrne 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Chrne 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CHRNE 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CHRNE 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | chrne 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | LOC386670 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | chrne 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | nAcRbeta-64B 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | lev-1 31 |
|
ManyToMany | |
acr-3 31 |
|
ManyToMany | |||
unc-29 31 |
|
ManyToMany | |||
acr-2 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
243033 | Pathogenic: Congenital myasthenic syndrome | 4,902,680(-) | CCCGCACTGGCCGGCT | GENIC_UPSTREAM_TRANSCRIPT_VARIANT | |
638347 | Uncertain Significance: not specified | 4,899,165(-) | C/T | ||
641378 | Uncertain Significance: Myasthenic syndrome, congenital, 4a, slow-channel | 4,899,582(-) | C/A | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
641751 | Uncertain Significance: Myasthenic syndrome, congenital, 4a, slow-channel | 4,899,339(-) | G/A | MISSENSE_VARIANT | |
641946 | Likely Pathogenic: Myasthenic syndrome, congenital, 4a, slow-channel | 4,899,508(-) | C/T | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
myasthenic syndrome, congenital, 4a, slow-channel |
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|
myasthenic syndrome, congenital, 4b, fast-channel |
|
|
myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency |
|
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congenital myasthenic syndrome |
|
|
postsynaptic congenital myasthenic syndromes |
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