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Chrne
Gene Detail
 Symbol
Name
ID
Chrne
cholinergic receptor, nicotinic, epsilon polypeptide
MGI:87894
STS D11Mit210
Synonyms AChrepsilon, Acre
Feature Type protein coding gene
Genetic Map
Chromosome 11
43.14 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr11:70614883-70619216 bp, - strand
From VEGA annotation of GRCm38

  4334 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:60  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog

Gene Tree: Chrne

Human
homologs
Human Homolog CHRNE, cholinergic receptor, nicotinic, epsilon (muscle)
NCBI Gene ID 1145
neXtProt AC  NX_Q04844
Human Synonyms  ACHRE, CMS1D, CMS1E, CMS2A, FCCMS, SCCMS
Human Chr (Location)  17p13.2; chr17:4897769-4903074 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human CHRNE
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for targeted null mutations exhibit reduced AChR receptor density at neuromuscular synapses, impaired neuromuscular transmission, progressive muscular weakness and atrophy, and lethality at 2-3 months of age.
 
Human Diseases Modeled Using Mouse Chrne (2)    Alleles Annotated to Human Diseases(2)   
Interactions
Chrne interacts with 27 markers (Mir22, Mir27a, Mir27b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (21 annotations)
Process cation transport, ion transmembrane transport, ...
Component acetylcholine-gated channel complex, cell junction, ...
Function acetylcholine-activated cation-selective channel activity, extracellular ligand-gated ion channel activity, ...
External Resources: FuncBase
Expression
Literature Summary: (10 records)
Data Summary: Results (10)    Tissues (10)   
Theiler Stages: 18, 21, 23, 25, 28
Assay TypeResults
RT-PCR 10
cDNA source data(8)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(16) Genomic(5) cDNA(8) Primer pair(1) Other(2)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000006059 (Evidence)
Ensembl Gene ModelENSMUSG00000014609 (Evidence)
Entrez Gene11448 (Evidence)
UniGene4980
DFCITC1588449
DoTSDT.110511436, DT.522645
NIA Mouse Gene IndexU033005
Consensus CDS ProjectCCDS24956.1
International Mouse Knockout Project StatusChrne
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006059 VEGA Gene Model | MGI Sequence Detail 4334 C57BL/6J ±  kb
transcript OTTMUST00000013660 VEGA | MGI Sequence Detail 1616 Not Applicable 
polypeptide OTTMUSP00000006331 VEGA | MGI Sequence Detail 494 Not Applicable 

For the selected sequences
All sequences(45) RefSeq(14) UniProt(4)
Polymorphisms SNPs within 2kb(43 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006201 Neurotransmitter-gated ion-channel
InterPro IPR018000 Neurotransmitter-gated ion-channel, conserved site
InterPro IPR006202 Neurotransmitter-gated ion-channel ligand-binding
InterPro IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
InterPro IPR027361 Nicotinic acetylcholine-gated receptor, transmembrane domain
InterPro IPR002394 Nicotinic acetylcholine receptor
Protein Ontology PR:000005467 acetylcholine receptor subunit epsilon
References (Earliest) J:8485 Buonanno A, et al., A universal oligonucleotide probe for acetylcholine receptor genes. Selection and sequencing of cDNA clones for the mouse muscle beta subunit. J Biol Chem. 1986 Dec 15;261(35):16451-8
(Latest) J:200692 Nayak TK, et al., Asymmetric transmitter binding sites of fetal muscle acetylcholine receptors shape their synaptic response. Proc Natl Acad Sci U S A. 2013 Aug 13;110(33):13654-9
All references(67)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-1069

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/23/2014
MGI 5.19
The Jackson Laboratory