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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GABRE Gene

protein-coding   GIFtS: 63
GCID: GC0XM151121

Gamma-Aminobutyric Acid (GABA) A Receptor, Epsilon

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Diseases associated with GABRE include lobular neoplasia, and essential tremor, and among its related super-pathways are Morphine addiction and p38 Signaling. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_167198.1  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GABRE gene promoter:
         CREB   AREB6   deltaCREB   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P78334

  • GABRE Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

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

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    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

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

    GABRE for ontologies           About GeneDecksing



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

    IUPHAR Guide to PHARMACOLOGY protein family classification: &epsilon 
    GABAA receptors

    5/6 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


    GABRE for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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--
         
    GABRE for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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
    5Class A/1 (Rhodopsin-like receptors)
    Neuroactive ligand-receptor interaction0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for GABRE
        GABA signaling in brain

    2 Downloadable PowerPoint Slides of QIAGEN 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


    GABRE for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GABRE

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

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

    GABRE for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    10/23 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 blocker--
    picrotoxin
    Channel blockerNone--

    Search CenterWatch for drugs/clinical trials and news about GABRE / GBRE

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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 

    24/125 AceView cDNA sequences (see all 125):

    BU732085 NM_021987 CA449311 AA347289 CR591394 AA321214 U92285 AI279924 
    CD369824 AI682740 AI334197 CD671953 AI432632 CA310783 AA677292 AW316736 
    AI963395 AI334196 BM678523 NM_004961 AA954089 AW955904 BX478724 AA855126 

    GeneLoc Exon Structure

    5/10 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GABRE expression in normal human tissues (normalized intensities)      GABRE embryonic expression: see
    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 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Thalamus
             Septum   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Mesenchymal Stem Cells (Muscoskeletal System)
             Human Mesenchymal Stem Cells (hMSC)   
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Uncategorized (Uncategorized)
             PureStem Progenitor EN13

    See GABRE Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GABRE

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including GABRE: 
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              GABA & Glutamate in human mouse rat

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    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for GABRE gene from 3/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gabre1 , 5 gamma-aminobutyric acid (GABA) A receptor, subunit more1, 5 77.97(n)1
    72.03(a)1
      X (37.21 cM)5
    144041  NM_017369.21  NP_059065.21 
     722559995 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG89166
    Grd6
    Glycine receptor
    21(a)
    19(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)
    About This Section
    Paralogs for GABRE gene
    GABRA22  GABRG12  GABRA32  GABRA12  GABRG22  GABRA42  GABRA62  GABRG32  
    GABRA52  
    18/23 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

    GABRE for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/518 SNPs in GABRE are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300093    OMIM disorders: --

    10 diseases for GABRE:    About MalaCards
    lobular neoplasia    essential tremor    febrile seizures    tremor
    anorexia nervosa    migraine    bipolar disorder    alcoholism
    endotheliitis    neuronitis


    GABRE for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for GABRE gene, integrated from 9 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. (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. (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. (2008)
    4. Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064)1, 4 Pinheiro A.P....Woodside D.B. (2010)
    5. Genetical genomic determinants of alcohol consumption in rats and humans. (PubMed id 19874574)1, 4 Tabakoff B....Hoffman P.L. (2009)
    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. (2008)
    7. Strong genetic evidence for a selective influence of GABA(A) receptors on a component of the bipolar disorder phenotype. (PubMed id 19078961)1, 4 Craddock N....O'Donovan M.C. (2008)
    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. (1997)
    9. Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ rece ptor polymorphisms and risk for essential tremor. (PubMed id 21422964)1 GarcA-a-MartA-n E....JimAcnez-JimAcnez F.J. (2011)
    10. Atypical behavioural effects of lorazepam: clues to t he design of novel therapies? (PubMed id 20138190)7 Giersch A....Vidailhet P. (2010)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 2564 HGNC: 4085 AceView: GABRE Ensembl:ENSG00000102287 euGenes: HUgn2564
    ECgene: GABRE Kegg: 2564 H-InvDB: GABRE

    (According to HUGE)
    About This Section
      --

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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