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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
  • Alliance
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, HGNC
  • Synonyms
    ACHRE, CMS1D, CMS1E, CMS2A, CMS4A, CMS4B, CMS4C, FCCMS, SCCMS
  • Links
    NCBI Gene ID: 1145
    neXtProt AC: NX_Q04844
    UniProt: Q04844

  • Chr Location
    17p13.2; chr17:4897769-4905019 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 2 models
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 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.
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 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
  • Comparison Matrix
  • Interactions
    less
    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
    less
    • SNPs within 2kb
      46 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • InterPro Domains
      IPR006201 Neurotransmitter-gated ion-channel
      IPR018000 Neurotransmitter-gated ion-channel, conserved site
      IPR006202 Neurotransmitter-gated ion-channel ligand-binding domain
      IPR036734 Neurotransmitter-gated ion-channel ligand-binding domain superfamily
      IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
      IPR036719 Neurotransmitter-gated ion-channel transmembrane domain superfamily
      IPR002394 Nicotinic acetylcholine receptor
    Molecular
    Reagents
    less
    • All nucleic 15
      Genomic 5
      cDNA 9
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-1069
    References
    more
    • Summaries
      All 81
      Developmental Gene Expression 13
      Diseases 3
      Gene Ontology 6
      Phenotypes 24
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:260151 Ito K, et al., Lack of Fgf18 causes abnormal clustering of motor nerve terminals at the neuromuscular junction with reduced acetylcholine receptor clusters. Sci Rep. 2018 Jan 11;8(1):434

    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
    07/03/2018
    MGI 6.12
    The Jackson Laboratory