Version 5.4
Mus musculus Gene: Chrne
Summary
InnateDB Gene IDBG-194931.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Chrne
Gene Name cholinergic receptor, nicotinic, epsilon polypeptide
Synonyms AChrepsilon; Acre; nAChRE
Species Mus musculus
Ensembl Gene ENSMUSG00000014609
Encoded Proteins
IDBP-194933
cholinergic receptor, nicotinic, epsilon polypeptide
IDBP-194935
cholinergic receptor, nicotinic, epsilon polypeptide
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes the epsilon subunit of the muscle-derived nicotinic acetylcholine receptor, a pentameric neurotransmitter receptor and member of the ligand-gated ion channel superfamily. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. In mice, deficiency of this gene can lead to a decline in the number of nicotinic acetylcholine receptors at neuromuscular junctions and causes progressive muscle weakness, atrophy and premature death. Mutations in this gene serve as a pathophysiological model for human congenital myasthenia. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Nov 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:70614883-70619216
Strand Reverse strand
Band B3
Transcripts
ENSMUST00000014753 ENSMUSP00000014753
ENSMUST00000102556 ENSMUSP00000099616
ENSMUST00000135920
ENSMUST00000134836
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004889 acetylcholine-activated cation-selective channel activity
GO:0005230 extracellular ligand-gated ion channel activity
Biological Process
GO:0006810 transport
GO:0006811 ion transport
GO:0006812 cation transport
GO:0034220 ion transmembrane transport
GO:0042391 regulation of membrane potential
Cellular Component
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0045211 postsynaptic membrane
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000108556
View Gene Order
ENSBTAG00000004908
Not yet available
Pathways
NETPATH
REACTOME
REACT_203664
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell pathway
REACT_198591
Presynaptic nicotinic acetylcholine receptors pathway
REACT_198593
Highly sodium permeable acetylcholine nicotinic receptors pathway
REACT_259290
Neuronal System pathway
REACT_198589
Activation of Nicotinic Acetylcholine Receptors pathway
REACT_198587
Acetylcholine Binding And Downstream Events pathway
REACT_198586
Postsynaptic nicotinic acetylcholine receptors pathway
REACT_233318
Transmission across Chemical Synapses pathway
KEGG
mmu04080
Neuroactive ligand-receptor interaction pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_13685
Neuronal System pathway
REACT_22149
Postsynaptic nicotinic acetylcholine receptors pathway
REACT_22223
Highly sodium permeable acetylcholine nicotinic receptors pathway
REACT_22126
Activation of Nicotinic Acetylcholine Receptors pathway
REACT_22336
Presynaptic nicotinic acetylcholine receptors pathway
REACT_13477
Transmission across Chemical Synapses pathway
REACT_15370
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell pathway
REACT_15461
Acetylcholine Binding And Downstream Events pathway
REACT_217102
Presynaptic nicotinic acetylcholine receptors pathway
REACT_223058
Transmission across Chemical Synapses pathway
REACT_202705
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell pathway
REACT_208574
Highly sodium permeable acetylcholine nicotinic receptors pathway
REACT_225032
Neuronal System pathway
REACT_202849
Activation of Nicotinic Acetylcholine Receptors pathway
REACT_226667
Postsynaptic nicotinic acetylcholine receptors pathway
REACT_214962
Acetylcholine Binding And Downstream Events pathway
KEGG
hsa04080
Neuroactive ligand-receptor interaction pathway
INOH
PID NCI
erbb2erbb3pathway
ErbB2/ErbB3 signaling events
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.4980
RefSeq NM_009603 XM_006532006 XM_006537109
OMIM
CCDS CCDS24956
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca