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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:70505709-70510042 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 43.14 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    43 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_87894
 protein coding gene Chr11:70505709-70510074 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018604
 protein coding gene Chr11:71156976-71161309 (-)
A/J MGP_AJ_G0018572
 protein coding gene Chr11:68457896-68462229 (-)
AKR/J MGP_AKRJ_G0018541
 protein coding gene Chr11:70523698-70528031 (-)
BALB/cJ MGP_BALBcJ_G0018544
 protein coding gene Chr11:68780001-68784334 (-)
C3H/HeJ MGP_C3HHeJ_G0018357
 protein coding gene Chr11:70543259-70547592 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018995
 protein coding gene Chr11:73314017-73318350 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016640
 protein coding gene Chr11:65378686-65383034 (-)
CAST/EiJ MGP_CASTEiJ_G0017912
 protein coding gene Chr11:70801233-70805569 (-)
CBA/J MGP_CBAJ_G0018329
 protein coding gene Chr11:76610542-76614875 (-)
DBA/2J MGP_DBA2J_G0018439
 protein coding gene Chr11:68041753-68046086 (-)
FVB/NJ MGP_FVBNJ_G0018429
 protein coding gene Chr11:67684518-67688851 (-)
LP/J MGP_LPJ_G0018509
 protein coding gene Chr11:71733614-71737947 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018452
 protein coding gene Chr11:77172473-77176806 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019037
 protein coding gene Chr11:70775596-70779929 (-)
PWK/PhJ MGP_PWKPhJ_G0017686
 protein coding gene Chr11:68683926-68688261 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017476
 protein coding gene Chr11:70593094-70597429 (-)
WSB/EiJ MGP_WSBEiJ_G0017966
 protein coding gene Chr11:70441548-70445881 (-)



Homology
more
  • Human Ortholog
    CHRNE, cholinergic receptor nicotinic epsilon subunit
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CHRNE, cholinergic receptor nicotinic epsilon subunit
  • Synonyms
    ACHRE, CMS1A1, CMS1D, CMS1E, CMS2A, CMS4A, CMS4B, CMS4C, FCCMS, FIM1, FIMG, FIMG1, MGI, SCCMS
  • Links
    NCBI Gene ID: 1145
    neXtProt AC: NX_Q04844
    UniProt: Q04844

  • Chr Location
    17p13.2; chr17:4897771-4934438 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Chrne mouse models; 4 with human CHRNE associations

Human Disease Mouse Models
      
IDs
 View 2 models
IDs
 View 1 model
      
IDs
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
    21 phenotypes from 4 alleles in 4 genetic backgrounds
    8 phenotypes from multigenic genotypes
    27 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
less
  • All GO Annotations
    30
  • GO References
    11
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    755
  • Tissues
    24
  • cDNA Data
    10
  • Literature Summary
    16
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000014609 Ensembl Gene Model | MGI Sequence Detail 4334 C57BL/6J ±  kb
    transcript ENSMUST00000014753 Ensembl | MGI Sequence Detail 1616 Not Applicable  
    polypeptide ENSMUSP00000014753 Ensembl | MGI Sequence Detail 494 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000005467 acetylcholine receptor subunit epsilon
      (term hierarchy)
    • InterPro Domains
      IPR038050 Neuronal acetylcholine receptor
      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
    • GlyGen
      P20782 2 sites
    Molecular
    Reagents
    less
    • All nucleic 19
      Genomic 5
      cDNA 10
      Primer pair 4

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-1069
    References
    more
    • Summaries
      All 94
      Developmental Gene Expression 16
      Diseases 3
      Gene Ontology 11
      Phenotypes 27
    • Earliest
      J:263579 Porter CW, et al., The ultrastructural localization and quantitation of cholinergic receptors at the mouse motor endplate. J Membr Biol. 1973;14(4):383-402
    • Latest
      J:345130 Eguchi T, et al., Calcium-binding protein 7 expressed in muscle negatively regulates age-related degeneration of neuromuscular junctions in mice. iScience. 2024 Feb 16;27(2):108997
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory