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GABRE Gene

protein-coding   GIFtS: 64
GCID: GC0XM151121

Gamma-Aminobutyric Acid (GABA) A Receptor, Epsilon

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Gamma-Aminobutyric Acid (GABA) A Receptor, Epsilon1 2
GABA(A) Receptor Subunit Epsilon2 3
epsilon1
GABA(A) Receptor1
GABA(A) Receptor, Epsilon2
Gamma-Aminobutyric Acid Receptor Subunit Epsilon2

External Ids:    HGNC: 40851   Entrez Gene: 25642   Ensembl: ENSG000001022877   OMIM: 3000935   UniProtKB: P783343   

Export aliases for GABRE gene to outside databases

Previous GC identifers: GC0XM145456 GC0XM147779 GC0XM148869 GC0XM149739 GC0XM150792 GC0XM150873 GC0XM139977


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (GABA) A receptor, epsilon) is a protein-coding gene. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRA2.

UniProtKB/Swiss-Prot: GBRE_HUMAN, P78334
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

summary for GABRE Gene:
GABAA receptors are members of the cys-loop family of ligand-gated ion channels, responsible for mediating
the inhibitory effects of GABA alongside GABAB and GABAC receptors. They are pentameric proteins, consisting
of 5 subunits belonging to different families (alpha1-6, beta1-3, gamma1-3, delta, pi, epsilon, rho, theta).
The most abundant GABAA receptor in the mammalian brain consist of two copies each of alpha1 and beta2 with
a single gamma2 subunits. GABAA receptors contain an integral chloride channel, and have modulatory sites
for benzodiazepines, barbiturates, neurosteroids and ethanol.

Gene Wiki entry for GABRE Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_011681.17  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GABRE gene promoter:
         CREB   AREB6   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGABRE promoter sequence
   Search Chromatin IP Primers for GABRE

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GABRE


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

GABRE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GABRE gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM151121:  view genomic region     (about GC identifiers)

Start:
151,121,596 bp from pter      End:
151,143,152 bp from pter
Size:
21,557 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GBRE_HUMAN, P78334 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor subunit epsilon precursor  
Size: 506 amino acids; 57972 Da
Subunit: Generally pentameric. Associates with alpha and beta subunits
Secondary accessions: O15345 O15346 Q99520

Explore the universe of human proteins at neXtProt for GABRE: NX_P78334

Explore proteomics data for GABRE at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn134, Asn252

  • See GABRE Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004952.2  
    ENSEMBL proteins: 
     ENSP00000359353   ENSP00000359350   ENSP00000389384   ENSP00000397335   ENSP00000377491  

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    Browse Proteins at Cloud-Clone Corp.

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GABRA: Ligand-gated ion channels / GABA(A) receptors
    GABR: GABA receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: epsilon
    GABAA receptors

    Selected InterPro protein domains (see all 6):
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006028 GABAA_rcpt
     IPR006201 Neur_channel
     IPR008099 GABAAe_rcpt
     IPR006202 Neur_chan_lig-bd

    Graphical View of Domain Structure for InterPro Entry P78334

    ProtoNet protein and cluster: P78334

    3 Blocks protein domains:
    IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
    IPB006201 Neurotransmitter-gated ion-channel
    IPB008099 Gamma-aminobutyric-acid A receptor epsilon subunit signature


    UniProtKB/Swiss-Prot: GBRE_HUMAN, P78334
    Similarity: 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


    Find genes that share domains with GABRE           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GBRE_HUMAN, P78334
    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

         Genatlas biochemistry entry for GABRE:
    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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004890GABA-A receptor activity IEA--
    GO:0005230extracellular ligand-gated ion channel activity IEA--
    GO:0005254chloride channel activity IEA--
         
    Find genes that share ontologies with GABRE           About GenesLikeMe


    Animal Models:
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    Selected qRT-PCR Assays for microRNAs that regulate GABRE (see all 31):
    hsa-miR-485-5p hsa-miR-623 hsa-miR-875-3p hsa-miR-513a-5p hsa-miR-15a hsa-miR-2110 hsa-miR-4260 hsa-miR-1304
    SwitchGear 3'UTR luciferase reporter plasmidGABRE 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GBRE_HUMAN, P78334: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
    membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane ----
    GO:0005887integral component of plasma membrane TAS9039914
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----
    GO:0030054cell junction IEA--

    Find genes that share ontologies with GABRE           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GABRE About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Circadian entrainment
    GABAergic synapse0.53
    Retrograde endocannabinoid signaling0.51
    Morphine addiction0.53
    2Akt Signaling
    Akt Signaling0.60
    3Apoptosis Pathway
    Akt Pathway0.39
    4Sweet Taste Signaling
    Sperm Motility0.37
    5Peptide ligand-binding receptors
    Neuroactive ligand-receptor interaction0.36


    Find genes that share SuperPaths with GABRE           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GABRE
        Sperm Motility
    Akt Signaling

    1 Tocris Bioscience Pathway for GABRE
        Akt Pathway



    5 Kegg Pathways  (Kegg details for GABRE):
        Neuroactive ligand-receptor interaction
    Retrograde endocannabinoid signaling
    GABAergic synapse
    Morphine addiction
    Nicotine addiction

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABRE: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GABRE

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for GABRE (ENSP000003593534) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GPHNENSP000003030194STRING: ENSP00000303019
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS9039914
    GO:0006811ion transport ----
    GO:0006821chloride transport ----
    GO:0007214gamma-aminobutyric acid signaling pathway TAS9039914

    Find genes that share ontologies with GABRE           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for GABRE available from Tocris Bioscience    About this table
    CompoundAction CAS #
    (+)-BicucullinePotent GABAA antagonist[485-49-4]
    MuscimolPotent GABAA agonist[2763-96-4]
    (-)-Bicuculline methiodideWater-soluble GABAA antagonist[40709-69-1]
    (-)-Bicuculline methochlorideWater-soluble GABAA antagonist[53552-05-9]
    SR 95531 hydrobromide Selective, competitive GABAA receptor antagonist [104104-50-9]

    2 HMDB Compounds for GABRE    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    Gamma-Aminobutyric acid3-Carboxypropylamine (see all 27)56-12-2--

    Selected DrugBank Compounds for GABRE (see all 23)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Lorazepam(+/-)-Lorazepam (see all 3)846-49-1targetpotentiator20138190 18384456 11752090
    Adinazolam-- 37115-32-5targetpotentiator6320036 6148400
    Chlordiazepoxide-- 58-25-3targetpotentiator18384456 11752090
    ClobazamAedon (see all 23)22316-47-8targetpotentiator18384456 11752090
    ClonazepamChlonazepam (see all 2)1622-61-3targetpotentiator18384456 11752090
    Clorazepate-- 23887-31-2targetpotentiator18384456 11752090
    Diazepam-- 439-14-5targetpotentiator18384456 11752090
    Estazolam-- 29975-16-4targetpotentiator639854 2889803
    Flurazepam-- 17617-23-1targetpotentiator18384456 11752090
    Halazepam-- 23092-17-3targetpotentiator2867566 6738302

    2 IUPHAR Ligands for GABRE (epsilon)    About this table
    LigandTypeActionAffinityPubmed IDs
    TBPS
    Channel blockerNone--
    picrotoxin
    Channel blockerNone--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GABRE gene (4 alternative transcripts): 
    NM_004961.3  NM_021984.2  NM_021987.2  NM_021990.2  

    Unigene Cluster for GABRE:

    Gamma-aminobutyric acid (GABA) A receptor, epsilon
    Hs.22785  [show with all ESTs]
    Unigene Representative Sequence: BC026337
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370328(uc004ffi.3 uc011myd.2) ENST00000483564 ENST00000486255
    ENST00000370325 ENST00000495862 ENST00000489333 ENST00000462018 ENST00000441219(uc011mye.1)
    ENST00000476016 ENST00000474932 ENST00000465405 ENST00000491339 ENST00000417300
    ENST00000393914
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    hsa-miR-485-5p hsa-miR-623 hsa-miR-875-3p hsa-miR-513a-5p hsa-miR-15a hsa-miR-2110 hsa-miR-4260 hsa-miR-1304
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    Additional mRNA sequence: 

    AF086385.1 AK299174.1 AK303072.1 BC026337.1 BC047108.1 BC059376.1 U66661.1 Y07637.1 
    Y09765.1 

    11 DOTS entries:

    DT.443863  DT.91825239  DT.100816070  DT.91755826  DT.95350380  DT.97833425  DT.115945  DT.95107482 
    DT.91755827  DT.121289670  DT.91750087 

    Selected AceView cDNA sequences (see all 125):

    AW955904 NM_004961 BM678523 AA954089 BU732085 BX478724 AI963395 AI334196 
    AI279924 AI400573 AI334197 AA677292 U92285 AI682740 AW316736 AI824213 
    NM_021984 Y09765 CR591394 AA321214 CA449311 CA310783 U66661 CD671953 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GABRE (see all 10)    About this scheme

    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:                                                                                                        -                                             


    ECgene alternative splicing isoforms for GABRE

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    GABRE expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCCAATGCT
    GABRE Expression
    About this image


    GABRE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
     
     Blood (Hematopoietic System)
             Megakaryocytes Hematopoietic Bone Marrow
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Adipose (Muscoskeletal System)
     
     Placenta (Extraembryonic Tissues)
    GABRE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GABRE Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.22785

    UniProtKB/Swiss-Prot: GBRE_HUMAN, P78334
    Tissue specificity: Expressed in many tissues. Highest levels of expression in adult heart and placenta

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABRE: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GABRE
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRE

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for GABRE gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gabre5 gamma-aminobutyric acid (GABA) A receptor, subunit more   --   X (37.21 cM) 72255999 
    chicken
    (Gallus gallus)
    Aves GABRG46
    Gallus gallus gamma-aminobutyric acid (GABA) A rec...
    48(a)
    many ↔ many
    4(10807767-10840783)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    45(a)
    many ↔ many
    GL343376.1(989553-1001645)
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01113152.16
    Uncharacterized protein
    20(a)
    many ↔ many
    Zv9_NA834(19752-41261) ENSDARG00000090808
    fruit fly
    (Drosophila melanogaster)
    Insecta CG89166
    Grd6
    Glycine receptor
    24(a)
    22(a)
    many ↔ many
    many ↔ many
    X(15815988-15818591)
    3L(17816433-17832867)
    worm
    (Caenorhabditis elegans)
    Secernentea F55D10.53 Ligand-gated ionic channel 31(a)
    (best of 3)
      X(4758292-4763557)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GABRE gene
    GABRA22  GABRG12  GABRA32  GABRA12  GABRG22  GABRA42  GABRA62  GABRG32  
    GABRA52  
    Selected SIMAP similar genes for GABRE using alignment to 5 protein entries:     GBRE_HUMAN (see all proteins) (see all similar genes):
    GABRG2    GABRG3    GABRG1    GABRA6    GABRA5    GABRA4
    GABRA3    GABRA2    GABRA1    GLRA3    GABRB2    GABRB1
    DKFZp781L0846    GABRB3    GABRP    GABRD    GLRA1    GLRA4

    Find genes that share paralogs with GABRE           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GABRE (see all 518)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1437412241,2
    --150987770(+) TGTGCC/TTCAGA 1 -- ds50010--------
    rs1481404291,2
    --150987841(+) GTCTCA/GTTCTG 1 -- ds50010--------
    rs70543911,2
    C,F,H--150987974(+) TTCCTT/CACTAA 1 -- ds500112Minor allele frequency- C:0.06NS EA NA WA CSA 941
    rs59247041,2
    C--150987976(+) CCTTAC/TTAATG 1 -- ds50012Minor allele frequency- T:0.00NA 4
    rs1473296781,2
    C--150988211(+) CCCCCA/CAACAA 1 -- ut310--------
    rs1386428501,2
    C--150988342(+) AGAAAC/TTGAGC 1 -- ut310--------
    rs1427135061,2
    --150988427(+) GAGCTA/GTCTAG 1 -- ut310--------
    rs1473778711,2
    --150988662(+) ATTGAC/TTGTGA 1 -- ut310--------
    rs59701701,2
    C,F,H--150988776(+) GCGAGT/CAATGC 1 -- ut31 ese318Minor allele frequency- C:0.12NS EA NA 2212
    rs1118644001,2
    C--150988805(+) TCCTTA/GGTTTC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for GABRE (151121596 - 151143152 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GABRE:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2668986CNV Deletion23128226
    nsv510867CNV Loss20534489

    Locus Specific Mutation Databases (LSDB): GABRE

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GABRE
    DNA2.0 Custom Variant and Variant Library Synthesis for GABRE

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300093    OMIM disorders: --


    Find genes that share disorders with GABRE           About GenesLikeMe

    Genetic Association Database (GAD): GABRE
    Human Genome Epidemiology (HuGE) Navigator: GABRE (9 documents)

    Export disorders for GABRE gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GABRE gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with GABRE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Insensitivity to anaesthetic agents conferred by a class of GABA(A) receptor subunit. (PubMed id 9039914)1, 2, 3 Davies P.A.... Kirkness E.F. (Nature 1997)
    2. An mRNA encoding a putative GABA-gated chloride channel is expressed in the human cardiac conduction system. (PubMed id 9084408)1, 2, 3 Garret M.... Margolskee R.F. (J. Neurochem. 1997)
    3. Investigation of gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility. (PubMed id 19087248)1, 4, 9 Fernandez F....Griffiths L.R. (BMC Med. Genet. 2008)
    4. Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064)1, 4 Pinheiro A.P....Woodside D.B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    5. Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype. (PubMed id 19078961)1, 4 Craddock N....O'Donovan M.C. (Mol. Psychiatry 2010)
    6. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    7. Genetical genomic determinants of alcohol consumption in rats and humans. (PubMed id 19874574)1, 4 Tabakoff B....Hoffman P.L. (BMC Biol. 2009)
    8. A gene in human chromosome band Xq28 (GABRE) defines a putative new subunit class of the GABAA neurotransmitter receptor. (PubMed id 9339354)1, 2 Wilke K.... Poustka A. (Genomics 1997)
    9. Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor. (PubMed id 21422964)1 GarcA-a-MartA-n E....JimAcnez-JimAcnez F.J. (Pharmacogenet. Genomics 2011)
    10. Atypical behavioural effects of lorazepam: clues to the design of novel therapies? (PubMed id 20138190)7 Giersch A....Vidailhet P. (amp 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2564 HGNC: 4085 AceView: GABRE Ensembl:ENSG00000102287 euGenes: HUgn2564
    ECgene: GABRE Kegg: 2564 H-InvDB: GABRE

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for GABRE Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GABRE gene:
    Search GeneIP for patents involving GABRE

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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