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Aliases for GABRE Gene

Aliases for GABRE Gene

  • Gamma-Aminobutyric Acid Type A Receptor Epsilon Subunit 2 3 5
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Epsilon 2
  • GABA(A) Receptor Subunit Epsilon 4
  • GABA(A) Receptor, Epsilon 2

External Ids for GABRE Gene

Previous GeneCards Identifiers for GABRE Gene

  • GC0XM145456
  • GC0XM147779
  • GC0XM148869
  • GC0XM149739
  • GC0XM150792
  • GC0XM150873
  • GC0XM151121
  • GC0XM139977

Summaries for GABRE Gene

Entrez Gene Summary for GABRE Gene

  • 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]

GeneCards Summary for GABRE Gene

GABRE (Gamma-Aminobutyric Acid Type A Receptor Epsilon Subunit) is a Protein Coding gene. Diseases associated with GABRE include Glycogen Storage Disease Ia. Among its related pathways are GABAergic synapse and Akt Signaling. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRG3.

UniProtKB/Swiss-Prot for GABRE Gene

  • GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.

Tocris Summary for GABRE Gene

  • GABAA receptors are members of the Cys-loop family of ligand-gated ion channels and, along with GABAB receptors, are responsible for mediating the inhibitory effects of GABA. They are pentameric proteins, consisting of five subunits belonging to different families.

Gene Wiki entry for GABRE Gene

Additional gene information for GABRE Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABRE Gene

Genomics for GABRE Gene

Regulatory Elements for GABRE Gene

Enhancers for GABRE Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH151970 1.2 Ensembl ENCODE 10.6 +3.7 3734 1.6 ELF3 NFIB ZSCAN4 ARID4B RAD21 RARA RFX5 RCOR1 CREM THAP11 GABRE MIR452 GC0XM151964
GH0XH151971 0.9 ENCODE 13.1 +0.9 861 4.2 TBP ZSCAN4 SIN3A RFX5 ZNF766 EGR1 SCRT2 CREM SP3 MCM3 GABRE ZNF185 GC0XM151964 MIR452
GH0XH151981 1.2 Ensembl ENCODE 4.9 -9.6 -9617 6.4 FOXA2 ZNF766 GATA2 FOS REST ZNF592 NFIL3 MBD2 SMARCA4 ETV4 MIR224 MAGEA4 LOC105373368 GABRE GC0XM152046
GH0XH151995 0.2 ENCODE 6.7 -21.8 -21772 1.7 GABRE GC0XM152046
GH0XH151988 0.7 ENCODE 0.4 -14.4 -14379 1.6 HDAC1 LEF1 ATF1 L3MBTL2 SOX6 TAL1 RELA ZNF592 ZNF589 CTBP1 MAGEA4 LOC105373368 GABRE GC0XM152046
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GABRE on UCSC Golden Path with GeneCards custom track

Promoters for GABRE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000249480 584 2201 TBP RFX5 ZNF766 EGR1 SCRT2 SP3 SMAD5 SMARCB1 TFDP1 KLF16

Genomic Locations for GABRE Gene

Genomic Locations for GABRE Gene
21,561 bases
Minus strand

Genomic View for GABRE Gene

Genes around GABRE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABRE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRE Gene

Proteins for GABRE Gene

  • Protein details for GABRE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Gamma-aminobutyric acid receptor subunit epsilon
    Protein Accession:
    Secondary Accessions:
    • E7ET93
    • O15345
    • O15346
    • Q6PCD2
    • Q99520

    Protein attributes for GABRE Gene

    506 amino acids
    Molecular mass:
    57972 Da
    Quaternary structure:
    • Generally pentameric. Associates with alpha and beta subunits.

    Alternative splice isoforms for GABRE Gene


neXtProt entry for GABRE Gene

Post-translational modifications for GABRE Gene

  • Glycosylation at isoforms=2134 and isoforms=2252
  • Modification sites at PhosphoSitePlus

Other Protein References for GABRE Gene

No data available for DME Specific Peptides for GABRE Gene

Domains & Families for GABRE Gene

Gene Families for GABRE Gene

Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRE sub-subfamily.
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRE sub-subfamily.
genes like me logo Genes that share domains with GABRE: view

Function for GABRE Gene

Molecular function for GABRE Gene

GENATLAS Biochemistry:
gamma-aminobutyric acid (GABA) A receptor,ionotropic,epsilon,predominantly expressed in adult brain,subunit,component of a pentameric receptor mediating inhibitory neurotransmission,clustered with GABRA3 and GABRB4
UniProtKB/Swiss-Prot Function:
GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.

Gene Ontology (GO) - Molecular Function for GABRE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 GABA-A receptor activity IEA --
GO:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005254 chloride channel activity IEA --
GO:0022851 GABA-gated chloride ion channel activity IDA 9039914
genes like me logo Genes that share ontologies with GABRE: view
genes like me logo Genes that share phenotypes with GABRE: view

Animal Model Products

miRNA for GABRE Gene

miRTarBase miRNAs that target GABRE

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GABRE Gene

Localization for GABRE Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRE Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GABRE gene
Compartment Confidence
plasma membrane 5
nucleus 1

Gene Ontology (GO) - Cellular Components for GABRE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
GO:0034707 chloride channel complex IEA --
genes like me logo Genes that share ontologies with GABRE: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GABRE Gene

Pathways & Interactions for GABRE Gene

genes like me logo Genes that share pathways with GABRE: view

Pathways by source for GABRE Gene

Gene Ontology (GO) - Biological Process for GABRE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007165 signal transduction IEA --
GO:0034220 ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with GABRE: view

No data available for SIGNOR curated interactions for GABRE Gene

Drugs & Compounds for GABRE Gene

(66) Drugs for GABRE Gene - From: DrugBank, DGIdb, IUPHAR, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adinazolam Approved Pharma agonist, Target, potentiator 0
Bromazepam Approved, Illicit Pharma binder, Target, potentiator 2
Chlordiazepoxide Approved, Illicit Pharma agonist, Target, positive allosteric modulator 5
Cinolazepam Approved Pharma binder, Target, potentiator 0
Clobazam Approved, Illicit Pharma antagonist, Target, positive allosteric modulator 21

(2) Additional Compounds for GABRE Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride

(4) Tocris Compounds for GABRE Gene

Compound Action Cas Number
Acamprosate calcium GABA agonist and glutamatergic modulator 77337-73-6
GABA Endogenous agonist 56-12-2
TACA GABAA agonist. Also GABA-T substrate and GABA uptake inhibitor 38090-53-8
ZAPA sulfate Agonist at 'low affinity' GABAA receptor. More potent than GABA/muscimol 371962-01-5
genes like me logo Genes that share compounds with GABRE: view

Transcripts for GABRE Gene

Unigene Clusters for GABRE Gene

Gamma-aminobutyric acid (GABA) A receptor, epsilon:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GABRE Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14a · 14b
SP1: - - - - - - - - - -
SP2: - - - -
SP3: - -
SP4: -
SP5: -
SP8: - -
SP9: -
SP10: - -

Relevant External Links for GABRE Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GABRE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GABRE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GABRE Gene

This gene is overexpressed in Adipose - Subcutaneous (x4.0).

NURSA nuclear receptor signaling pathways regulating expression of GABRE Gene:


SOURCE GeneReport for Unigene cluster for GABRE Gene:


mRNA Expression by UniProt/SwissProt for GABRE Gene:

Tissue specificity: Expressed in many tissues. Highest levels of expression in adult heart and placenta.

Evidence on tissue expression from TISSUES for GABRE Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with GABRE: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GABRE Gene

Orthologs for GABRE Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRE Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GABRE 34
  • 99 (a)
(Canis familiaris)
Mammalia GABRE 33 34
  • 85.45 (n)
(Bos Taurus)
Mammalia GABRE 33 34
  • 81.28 (n)
(Rattus norvegicus)
Mammalia Gabre 33
  • 81.02 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 54 (a)
-- 34
  • 33 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 47 (a)
(Mus musculus)
Mammalia Gabre 34
  • 39 (a)
(Gallus gallus)
Aves GABRG4 34
  • 48 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 45 (a)
(Danio rerio)
Actinopterygii CABZ01113152.1 34
  • 20 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8916 34
  • 24 (a)
Grd 34
  • 22 (a)
(Caenorhabditis elegans)
Secernentea F55D10.5 35
  • 31 (a)
lgc-37 34
  • 29 (a)
T20B12.9 35
  • 26 (a)
Y71D11A.5 35
  • 26 (a)
lgc-36 34
  • 22 (a)
Species where no ortholog for GABRE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GABRE Gene

Gene Tree for GABRE (if available)
Gene Tree for GABRE (if available)

Paralogs for GABRE Gene

Paralogs for GABRE Gene

genes like me logo Genes that share paralogs with GABRE: view

Variants for GABRE Gene

Sequence variations from dbSNP and Humsavar for GABRE Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs483352728 Uncertain significance 151,955,530(-) GGCAC(A/C)TTTTC reference, synonymous-codon
rs1000100857 -- 151,969,896(+) AAAAC(A/C)AAGCT intron-variant
rs1000220145 -- 151,963,125(+) TCCCA(C/T)ATTTC intron-variant, upstream-variant-2KB
rs1000298130 -- 151,970,453(+) GGGGC(C/T)CCAGC intron-variant, utr-variant-5-prime
rs1000313185 -- 151,954,245(+) ATAGG(C/T)AAGCA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for GABRE Gene

Variant ID Type Subtype PubMed ID
nsv510867 CNV deletion 20534489
esv2668986 CNV deletion 23128226

Variation tolerance for GABRE Gene

Residual Variation Intolerance Score: 82.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.07; 37.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GABRE Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABRE Gene

Disorders for GABRE Gene

MalaCards: The human disease database

(1) MalaCards diseases for GABRE Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
glycogen storage disease ia
  • glycogen storage disease i
- elite association - COSMIC cancer census association via MalaCards
Search GABRE in MalaCards View complete list of genes associated with diseases

Relevant External Links for GABRE

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with GABRE: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GABRE Gene

Publications for GABRE Gene

  1. Investigation of gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility. (PMID: 19087248) Fernandez F … Griffiths LR (BMC medical genetics 2008) 3 22 45 60
  2. Insensitivity to anaesthetic agents conferred by a class of GABA(A) receptor subunit. (PMID: 9039914) Davies PA … Kirkness EF (Nature 1997) 2 3 4 60
  3. An mRNA encoding a putative GABA-gated chloride channel is expressed in the human cardiac conduction system. (PMID: 9084408) Garret M … Margolskee RF (Journal of neurochemistry 1997) 2 3 4 60
  4. Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype. (PMID: 19078961) Craddock N … O'Donovan MC (Molecular psychiatry 2010) 3 45 60
  5. Association study of 182 candidate genes in anorexia nervosa. (PMID: 20468064) Pinheiro AP … Woodside DB (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 45 60

Products for GABRE Gene

Sources for GABRE Gene

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