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Gabre gamma-aminobutyric acid (GABA) A receptor, subunit epsilon [ Mus musculus (house mouse) ]

Gene ID: 14404, updated on 2-May-2024

Summary

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Official Symbol
Gabreprovided by MGI
Official Full Name
gamma-aminobutyric acid (GABA) A receptor, subunit epsilonprovided by MGI
Primary source
MGI:MGI:1330235
See related
Ensembl:ENSMUSG00000031340 AllianceGenome:MGI:1330235
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Predicted to enable GABA-gated chloride ion channel activity; inhibitory extracellular ligand-gated ion channel activity; and transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential. Predicted to contribute to GABA-A receptor activity; benzodiazepine receptor activity; and chloride channel activity. Predicted to be involved in several processes, including GABAergic synaptic transmission; chloride transmembrane transport; and negative regulation of chloride transport. Predicted to act upstream of or within chloride transport. Predicted to be part of GABA-A receptor complex. Predicted to be active in dendrite membrane and postsynapse. Predicted to be integral component of plasma membrane. Is expressed in several structures, including heart; limb; nervous system; skeleton; and urinary system. Orthologous to human GABRE (gamma-aminobutyric acid type A receptor subunit epsilon). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in limb E14.5 (RPKM 5.8), bladder adult (RPKM 1.5) and 18 other tissues See more
Orthologs
human all
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Genomic context

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Location:
X A7.3; X 37.21 cM
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (71300532..71318433, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (72256926..72274828, complement)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_47332 Neighboring gene STARR-seq mESC enhancer starr_47333 Neighboring gene predicted gene, 39519 Neighboring gene MAGE family member A4 Neighboring gene microRNA 224 Neighboring gene microRNA 452 Neighboring gene STARR-seq mESC enhancer starr_47334 Neighboring gene MAGE family member A10 Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha 3 Neighboring gene coiled-coil domain containing 99 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Repeated inhalation of sevoflurane inhibits the information transmission of Purkinje cells and delays motor development via the GABAA receptor ε subunit in neonatal mice. Fang H, et al. Mol Med Rep, 2018 Jan. PMID 29115488, Free PMC Article
  2. The promiscuous role of the epsilon subunit in GABAA receptor biogenesis. Bollan KA, et al. Mol Cell Neurosci, 2008 Mar. PMID 18206389
  3. Composition of the GABA(A) receptors of retinal dopaminergic neurons. Gustincich S, et al. J Neurosci, 1999 Sep 15. PMID 10479684, Free PMC Article
  4. GABA(A) receptor epsilon and theta subunits display unusual structural variation between species and are enriched in the rat locus ceruleus. Sinkkonen ST, et al. J Neurosci, 2000 May 15. PMID 10804200, Free PMC Article
  5. Special relationship of gamma-aminobutyric acid to the ventromedial nucleus of the hypothalamus during embryonic development. Tobet SA, et al. J Comp Neurol, 1999 Mar 1. PMID 10022198

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (6) 
  • Targeted (1)  1 citation

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
contributes_to GABA-A receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GABA-A receptor activity ISO
Inferred from Sequence Orthology
more info
  
enables GABA-A receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
enables GABA-gated chloride ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GABA-gated chloride ion channel activity ISO
Inferred from Sequence Orthology
more info
  
contributes_to benzodiazepine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within chloride transport ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in gamma-aminobutyric acid signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in gamma-aminobutyric acid signaling pathway ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within gamma-aminobutyric acid signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in inhibitory synapse assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of chloride transport ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of postsynaptic membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in synaptic transmission, GABAergic IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of GABA-A receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of GABA-A receptor complex ISO
Inferred from Sequence Orthology
more info
  
is_active_in GABA-ergic synapse ISO
Inferred from Sequence Orthology
more info
  
is_active_in dendrite membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
is_active_in postsynapse IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in postsynaptic membrane ISO
Inferred from Sequence Orthology
more info
  
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of transmembrane transporter complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
gamma-aminobutyric acid receptor subunit epsilon

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_017369.2 → NP_059065.2  gamma-aminobutyric acid receptor subunit epsilon precursor

    Status: VALIDATED

    Source sequence(s)
    AL807816
    Consensus CDS
    CCDS30186.1
    UniProtKB/TrEMBL
    A2AMW3, Q9JLE7
    Related
    ENSMUSP00000066543.4, ENSMUST00000064780.4
    Conserved Domains (3) summary
    TIGR00860
    Location:484 → 912
    LIC; Cation transporter family protein
    pfam02931
    Location:482 → 687
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:696 → 910
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    71300532..71318433 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011247523.3 → XP_011245825.1  gamma-aminobutyric acid receptor subunit epsilon isoform X1

    UniProtKB/TrEMBL
    Q9JLE7
    Conserved Domains (4) summary
    cd03558
    Location:574 → 588
    LGIC_ECD; Cys-loop [structural motif]
    cd19057
    Location:658 → 881
    LGIC_TM_GABAAR_epsilon; transmembrane domain of epsilon subunits of type-A gamma-aminobutyric acid receptor (GABAAR)
    cl28912
    Location:506 → 655
    LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))
    pfam02932
    Location:664 → 877
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

  2. XM_011247524.3 → XP_011245826.1  gamma-aminobutyric acid receptor subunit epsilon isoform X2

    Conserved Domains (2) summary
    cd03558
    Location:606 → 620
    LGIC_ECD; Cys-loop [structural motif]
    cl28912
    Location:506 → 675
    LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))

  3. XM_011247525.3 → XP_011245827.1  gamma-aminobutyric acid receptor subunit epsilon isoform X3

    Conserved Domains (1) summary
    cl28912
    Location:506 → 598
    LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))

RNA

  1. XR_878092.3 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version

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