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GABRE gamma-aminobutyric acid type A receptor subunit epsilon [ Homo sapiens (human) ]

Gene ID: 2564, updated on 2-Mar-2021

Summary

Official Symbol
GABREprovided by HGNC
Official Full Name
gamma-aminobutyric acid type A receptor subunit epsilonprovided by HGNC
Primary source
HGNC:HGNC:4085
See related
Ensembl:ENSG00000102287 MIM:300093
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster comprised of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants have been identified, but only one is thought to encode a protein. [provided by RefSeq, Oct 2008]
Expression
Broad expression in skin (RPKM 13.6), fat (RPKM 13.4) and 17 other tissues See more
Orthologs
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Genomic context

See GABRE in Genome Data Viewer
Location:
Xq28
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (151953124..151974692, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (151121596..151143148, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene MAGEA4 antisense RNA 1 Neighboring gene MAGE family member A4 Neighboring gene uncharacterized LOC105373369 Neighboring gene microRNA 224 Neighboring gene microRNA 452 Neighboring gene ribosomal protein SA pseudogene 60 Neighboring gene MAGEA10-MAGEA5 readthrough Neighboring gene MAGE family member A5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to GABA-A receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GABA-gated chloride ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GABA-gated chloride ion channel activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to benzodiazepine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inhibitory extracellular ligand-gated ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neurotransmitter receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gamma-aminobutyric acid signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of chloride transport IDA
Inferred from Direct Assay
more info
PubMed 
nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of postsynaptic membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic transmission, GABAergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
GABA-A receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GABA-A receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
dendrite membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
gamma-aminobutyric acid receptor subunit epsilon
Names
GABA(A) receptor subunit epsilon
GABA(A) receptor, epsilon
gamma-aminobutyric acid (GABA) A receptor, epsilon
gamma-aminobutyric acid type A receptor epsilon subunit

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.

Genomic

  1. NG_012511.1 RefSeqGene

    Range
    5004..26556
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004961.4NP_004952.2  gamma-aminobutyric acid receptor subunit epsilon precursor

    See identical proteins and their annotated locations for NP_004952.2

    Status: REVIEWED

    Source sequence(s)
    BC026337, U92285, Y09765
    Consensus CDS
    CCDS14703.1
    UniProtKB/Swiss-Prot
    P78334
    Related
    ENSP00000359353.3, ENST00000370328.4
    Conserved Domains (2) summary
    pfam02931
    Location:71276
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:285408
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    151953124..151974692 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452360.1XP_024308128.1  gamma-aminobutyric acid receptor subunit epsilon isoform X1

    Conserved Domains (1) summary
    cl27321
    Location:1291
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
  2. XM_017029389.2XP_016884878.1  gamma-aminobutyric acid receptor subunit epsilon isoform X5

  3. XM_017029387.2XP_016884876.1  gamma-aminobutyric acid receptor subunit epsilon isoform X2

    Conserved Domains (2) summary
    pfam02931
    Location:1131
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:140263
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  4. XM_017029388.1XP_016884877.1  gamma-aminobutyric acid receptor subunit epsilon isoform X3

  5. XM_011531140.2XP_011529442.1  gamma-aminobutyric acid receptor subunit epsilon isoform X4

    Conserved Domains (1) summary
    pfam02932
    Location:63186
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_021984.2: Suppressed sequence

    Description
    NM_021984.2: This RefSeq was permanently suppressed because when the correct translation start site is used, it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_021987.2: Suppressed sequence

    Description
    NM_021987.2: This RefSeq was permanently suppressed because when the correct translation start site is used, it is a nonsense-mediated mRNA decay (NMD) candidate.
  3. NM_021990.2: Suppressed sequence

    Description
    NM_021990.2: This RefSeq was permanently suppressed because when the correct translation start site is used, it is a nonsense-mediated mRNA decay (NMD) candidate.
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