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Chrne Gene Detail
Summary
  • Symbol
    Chrne
  • Name
    cholinergic receptor, nicotinic, epsilon polypeptide
  • Synonyms
    AChrepsilon, Acre
  • Feature Type
    protein coding gene
  • IDs
    MGI:87894
    NCBI Gene: 11448
  • Gene Overview
    MyGene.info: CHRNE
Location & Maps
more
  • Sequence Map
    Chr11:70614883-70619216 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      4334 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 43.14 cM
  • Mapping Data
    2 experiments
  • Sequence Tag
Homology
more
  • Human Ortholog
    CHRNE, cholinergic receptor nicotinic epsilon subunit
  • Vertebrate Orthologs
    8
  • Human Ortholog
    CHRNE, cholinergic receptor nicotinic epsilon subunit
    Orthology source: HomoloGene
  • Synonyms
    ACHRE, CMS1D, CMS1E, CMS2A, CMS4A, CMS4B, CMS4C, FCCMS, SCCMS
  • Links
    NCBI Gene ID: 1145
    neXtProt AC: NX_Q04844

  • Chr Location
    17p13.2; chr17:4897769-4903128 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Chrne mouse models; 3 with human CHRNE associations

Human Disease Mouse Models
       Myasthenic Syndrome, Congenital, 4a, Slow-Channel; CMS4A   OMIM: 605809 View 2 models
Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency; CMS4C   OMIM: 608931 View 1 model
       Myasthenic Syndrome, Congenital, 4b, Fast-Channel; CMS4B   OMIM: 616324
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    23 phenotypes from 5 alleles in 4 genetic backgrounds
    24 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Targeted
    6
  • Transgenic
    1
  • Genomic Mutations
    2 involving Chrne
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    46 from dbSNP Build 142
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000005467 acetylcholine receptor subunit epsilon
  • InterPro Domains
    IPR006201 Neurotransmitter-gated ion-channel
    IPR018000 Neurotransmitter-gated ion-channel, conserved site
    IPR006202 Neurotransmitter-gated ion-channel ligand-binding domain
    IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
    IPR027361 Nicotinic acetylcholine-gated receptor, transmembrane domain
    IPR002394 Nicotinic acetylcholine receptor
Molecular
Reagents
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  • All nucleic 17
    Genomic 5
    cDNA 9
    Primer pair 1
    Other 2

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-1069
References
more
  • Summaries
    All 64
    Developmental Gene Expression 11
    Diseases 6
    Gene Ontology 6
    Phenotypes 24
  • 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:221937 Watson JA, et al., Motor and Sensory Deficits in the teetering Mice Result from Mutation of the ESCRT Component HGS. PLoS Genet. 2015 Jun;11(6):e1005290

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory