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Aliases for GABRE Gene

Aliases for GABRE Gene

  • Gamma-Aminobutyric Acid Type A Receptor Epsilon Subunit 2 3
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Epsilon 2 5
  • GABA(A) Receptor Subunit Epsilon 4
  • GABA(A) Receptor 2
  • 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. Among its related pathways are Apoptosis Pathway and Circadian entrainment. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRA4.

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

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around GABRE on UCSC Golden Path with GeneCards custom track

Genomic Location for GABRE Gene

Chromosome:
X
Start:
151,953,124 bp from pter
End:
151,974,684 bp from pter
Size:
21,561 bases
Orientation:
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:
    P78334-GBRE_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit epsilon
    Protein Accession:
    P78334
    Secondary Accessions:
    • E7ET93
    • O15345
    • O15346
    • Q6PCD2
    • Q99520

    Protein attributes for GABRE Gene

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

    Alternative splice isoforms for GABRE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GABRE Gene

Proteomics data for GABRE Gene at MOPED

Post-translational modifications for GABRE Gene

  • Glycosylation at Asn 134 and Asn 252
  • Modification sites at PhosphoSitePlus

Other Protein References for GABRE Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GABRE Gene

Domains & Families for GABRE Gene

Gene Families for GABRE Gene

Graphical View of Domain Structure for InterPro Entry

P78334

UniProtKB/Swiss-Prot:

GBRE_HUMAN :
  • 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.
Family:
  • 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 --
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

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
Jensen Localization Image for GABRE Gene COMPARTMENTS Subcellular localization image for GABRE gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for GABRE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
GO:1902711 GABA-A receptor complex IBA --
genes like me logo Genes that share ontologies with GABRE: view

Pathways & Interactions for GABRE Gene

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

Pathways by source for GABRE Gene

Interacting Proteins for GABRE Gene

Gene Ontology (GO) - Biological Process for GABRE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007214 gamma-aminobutyric acid signaling pathway TAS 9039914
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

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

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 4
Cinolazepam Approved Pharma binder, Target, potentiator 0
Clobazam Approved, Illicit Pharma antagonist, Target, positive allosteric modulator 19

(6) Additional Compounds for GABRE Gene - From: Tocris and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Alpha-hydroxyalprazolam
37115-43-8
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
gaba
56-12-2
Isoguvacine hydrochloride
68547-97-7
TACA
38090-53-8

(5) Tocris Compounds for GABRE Gene

Compound Action Cas Number
GABA Endogenous agonist 56-12-2
Isoguvacine hydrochloride Selective GABAA agonist 68547-97-7
Muscimol Potent GABAA agonist 2763-96-4
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:

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: -
SP6:
SP7:
SP8: - -
SP9: -
SP10: - -

Relevant External Links for GABRE Gene

GeneLoc Exon Structure for
GABRE
ECgene alternative splicing isoforms for
GABRE

Expression for GABRE Gene

mRNA expression in normal human tissues 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).

SOURCE GeneReport for Unigene cluster for GABRE Gene Hs.22785

mRNA Expression by UniProt/SwissProt for GABRE Gene

P78334-GBRE_HUMAN
Tissue specificity: Expressed in many tissues. Highest levels of expression in adult heart and placenta.
genes like me logo Genes that share expression patterns with GABRE: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia GABRE 35
  • 81.28 (n)
  • 73.57 (a)
GABRE 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRE 35
  • 85.45 (n)
  • 79.1 (a)
GABRE 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabre 35
  • 81.02 (n)
  • 76.94 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 47 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Gabre 36
  • 39 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 33 (a)
ManyToMany
-- 36
  • 54 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia GABRE 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves GABRG4 36
  • 48 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 45 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii CABZ01113152.1 36
  • 20 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8916 36
  • 24 (a)
ManyToMany
Grd 36
  • 22 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F55D10.5 37
  • 31 (a)
T20B12.9 37
  • 26 (a)
Y71D11A.5 37
  • 26 (a)
lgc-36 36
  • 22 (a)
ManyToMany
lgc-37 36
  • 29 (a)
ManyToMany
Species with no ortholog for GABRE:
  • 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

ENSEMBL:
Gene Tree for GABRE (if available)
TreeFam:
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
rs1139916 - 151,969,707(-) AGATC(A/G/T)CCGTC reference, missense, utr-variant-5-prime
rs17855708 - 151,974,601(+) TAGGA(A/G)GACTG upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs747697173 -- 151,966,189(+) TTGAC(A/G)AAGGA intron-variant
rs747814628 -- 151,967,131(+) TGGCG(C/T)CCCCT intron-variant
rs747822719 -- 151,954,257(+) CTAGT(C/T)GGTGC utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv510867 CNV Loss 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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for GABRE Gene

Disorders for GABRE Gene

Relevant External Links for GABRE

Genetic Association Database (GAD)
GABRE
Human Genome Epidemiology (HuGE) Navigator
GABRE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GABRE

No disorders were found for GABRE Gene.

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

Publications for GABRE Gene

  1. Insensitivity to anaesthetic agents conferred by a class of GABA(A) receptor subunit. (PMID: 9039914) Davies P.A. … Kirkness E.F. (Nature 1997) 2 3 4 67
  2. Atypical behavioural effects of lorazepam: clues to the design of novel therapies? (PMID: 20138190) Giersch A. … Vidailhet P. (Pharmacol. Ther. 2010) 25 26
  3. Investigation of gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility. (PMID: 19087248) Fernandez F. … Griffiths L.R. (BMC Med. Genet. 2008) 3 23
  4. Benzodiazepines in epilepsy: pharmacology and pharmacokinetics. (PMID: 18384456) Riss J. … Collins S. (Acta Neurol. Scand. 2008) 25 26
  5. Benzodiazepine metabolism: an analytical perspective. (PMID: 18855614) Mandrioli R. … Raggi M.A. (Curr. Drug Metab. 2008) 25 26

Products for GABRE Gene

Sources for GABRE Gene

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