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

    Gene ID: 14404, updated on 27-Nov-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 and transmitter-gated monoatomic 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 inhibitory synapse assembly. Predicted to act upstream of or within chloride transport. Predicted to be part of GABA-A receptor complex and transmembrane transporter complex. Predicted to be active in GABA-ergic synapse; dendrite membrane; and postsynaptic membrane. Is expressed in several structures, including brain; heart; limb; skeleton; and urinary system. Orthologous to human GABRE (gamma-aminobutyric acid type A receptor subunit epsilon). [provided by Alliance of Genome Resources, Nov 2024]
    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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    See Gabre in Genome Data Viewer
    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. 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
    5. 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

    See all (22) 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 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
    		  
    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
    		  
    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
    		  

    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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