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GABRG3 Gene

protein-coding   GIFtS: 65

GC15P024800
gamma-aminobutyric acid (GABA) A receptor, gamma 3
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Descriptions
GABA(A) receptor subunit gamma-3 3
gamma-aminobutyric acid (GABA) A receptor, gamma 3 2
gamma-aminobutyric acid A receptor, gamma 3 1
External Ids
HGNC: 40881
Entrez Gene: 25672
UniProtKB: Q999283
Ensembl: ENSG000001822567
Search outside databases for aliases for GABRG3 gene

Previous GC identifers: GC15P023369 GC15P020593 GC15P024651 GC15P024779

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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UniProtKB/Swiss-Prot: GBRG3_HUMAN, Q99928
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 Wiki entry for GABRG3

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the GABRG3 gene  

Entrez Gene cytogenetic band: 15q12   Ensembl cytogenetic band:  15q12   HGNC cytogenetic band: 15q11-q13

GABRG3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P024800:     (about GC identifiers)

Start:
24,799,263 bp from pter
End:
25,451,622 bp from pter
Size:
652,360 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000015.8  NT_010280.17  NT_078095.2  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: GBRG3_HUMAN, Q99928 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor subunit gamma-3 precursor  
Size: 467 amino acids; 54289 Da
Subunit: Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma,
delta, and rho
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane
protein. Cell membrane; Multi-pass membrane protein
Miscellaneous: This subunit carries the benzodiazepine binding site
Secondary accessions: Q9HD46 Q9NYT2

Post-translational modifications:

  • May be palmitoylated (By similarity)1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_150092.2  

    ENSEMBL proteins: 
    ENSP00000331912 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (GABA A Receptor gamma 3)
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886 plasma membrane IEA--
    GO:0016021 integral to membrane NAS--
    GO:0030054 cell junction IEA--
    GO:0045202 synapse IEA--
    GO:0045211 postsynaptic membrane IEA--
    About this table

    Antibodies for GABRG3: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for GABRG3
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (GABA A Receptor gamma 3), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for GABRG3

    Assays for GABRG3: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5/7 InterPro domains/families (see all 7 ):
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006028 GABAA_rcpt
     IPR006201 Neur_channel
     IPR005437 GABBAg_rcpt
     IPR006029 Neu_channel_TM


       GeneDecks  GABRG3 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q99928

    ProtoNet protein and cluster: Q99928

    4 Blocks protein families:
    IPB005437 Gamma-aminobutyric-acid A receptor gamma subunit signature
    IPB005440 Gamma-aminobutyric-acid A receptor gamma 3 subunit signature
    IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
    IPB006201 Neurotransmitter-gated ion-channel


    UniProtKB/Swiss-Prot: GBRG3_HUMAN, Q99928
    Similarity: Belongs to the ligand-gated ionic channel (TC 1.A.9) family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (GABRG3)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (GABRG3)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_033223

                  Applied Biosystems Silencer® siRNAs for GABRG3

                  Sigma-Aldrich siRNA and siRNA Panels for GABRG3  
                         Sigma-Aldrich shRNA for GABRG3  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_033223
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_033223
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_033223 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_033223

    UniProtKB/Swiss-Prot: GBRG3_HUMAN, Q99928
    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 GABRG3:
    gamma-aminobutyric acid (GABA) A receptor,ionotropic,gamma 3,subunit,component of a pentameric
    receptor mediating inhibitory neurotransmission

    5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004890 GABA-A receptor activity IEA--
    GO:0005216 ion channel activity IEA--
    GO:0005230 extracellular ligand-gated ion channel activity NAS--
    GO:0005254 chloride channel activity IEA--
    GO:0030594 neurotransmitter receptor activity IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Millipore Pathway for GABRG3
     GABA signaling in brain

       GeneDecks  GABRG3 for the pathways selected above  
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    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  GABRG3  (Your Favorite Gene powered by Ingenuity) 
     GABA Receptor Signaling

       GeneDecks  GABRG3 for the pathways selected above  
    About GeneDecksing

    1 Kegg Pathway  (Kegg details for GABRG3):
     hsa04080 Neuroactive ligand-receptor interaction

       GeneDecks  GABRG3 for the pathways selected above  
    About GeneDecksing

    5/20 Interacting proteins for GABRG3 (ENSP000003319123) via UniProtKB, MINT, and/or STRING (see all 20 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABRB3ENSP000003724793STRING (score=.827)
    GABRR2ENSP000002296063STRING (score=.825)
    GABRR1ENSP000003584633STRING (score=.823)
    GABRB2ENSP000002745473STRING (score=.822)
    GABRPENSP000002652943STRING (score=.821)
    About this table

    4 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811 ion transport IEA--
    GO:0006821 chloride transport IEA--
    GO:0007214 gamma-aminobutyric acid signaling pathway IEA--
    GO:0007268 synaptic transmission NAS--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Enzo Life Sciences drugs & compounds for GABRG3
    Sigma-Aldrich Small Molecules for GABRG3:
    Inhibitor

    Compounds for GABRG3 available from Tocris Bioscience
    CompoundAction CAS number
    MuscimolPotent GABAA agonist[2763-96-4]
    (+)-BicucullinePotent GABAA antagonist[485-49-4]
    IndiplonSubtype-selective GABAA receptor positive allosteric modulator[325715-02-4]
    L-655,708Selective for alpha5-containing GABAA receptors[130477-52-0]
    SR 95531 hydrobromideSelective, competitive GABAA receptor antagonist[104104-50-9]
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (GABRG3)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (GABRG3)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_033223

                  Sigma-Aldrich siRNA and siRNA Panels for GABRG3  
                         Sigma-Aldrich shRNA for GABRG3  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_033223  

    REFSEQ mRNAs for GABRG3 gene: 

    NM_033223.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_033223  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_033223
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_033223
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_033223 

    Additional cDNA sequence: 

    BC029850.1 S82769.1 

    2 DOTS entries:

    DT.100742755  DT.91656723 

    3 AceView cDNA sequences:

    S82769 NM_033223 BI461645 

    highest scoring ESTs for GABRG3:

    S82769 BC029850 NM_033223 BI546934 BI818830 BX282033 BC045709 BG201662 BG203253 BI461645 

    Unigene Cluster for GABRG3:

    Gamma-aminobutyric acid (GABA) A receptor, gamma 3
    Hs.569475  [show with all ESTs]
    Unigene Representative Sequence: BC029850


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000333743  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    GABRG3 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for GABRG3

    1 / 2 / 3

    4 probe-sets matching GABRG3 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    31567_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 S82769 1.00 1.00 1.00 1

    216895_at2, 3 U133-A 1 1.00 1.00 -- -- S82769 1.00 1.00 1.00 1

    216895_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1555517_at*2 U133Plus2 NULL 0.00 0.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CCGGTTTAAA

    SOURCE GeneReport for Unigene cluster: Hs.569475

    Expression variation in blood from EXPOLDB for GABRG3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for GABRG3 gene from 5/6 species (see all 6 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    rat
    (Rattus norvegicus)
    Gabrg31   -- gamma-aminobutyric acid (GABA) A receptor, gamma 3 88.08(n)
    95.72(a)
    79211  NM_024370.3  NP_077346.3 
    mouse
    (Mus musculus)
    Gabrg31, 5 7 (28.20 cM)5
    gamma-aminobutyric acid (GABA) A receptor, subunit more5
    gamma-aminobutyric acid (GABA-A) receptor, subunit more1
    88.15(n)1
    95.93(a)1
    144071  NM_008074.21  NP_032100.21 
     AK0462635  AK0464835  (see all 12)
    chicken
    (Gallus gallus)
    GABRG31   -- gamma-aminobutyric acid (GABA) A receptor, gamma 3 82.37(n)
    92.41(a)
    770097  XM_001233420.1  XP_001233421.1 
    zebrafish
    (Danio rerio)
    LOC5670571   -- similar to gamma-aminobutyric acid (GABA) A receptor, more 75.99(n)
    86.25(a)
    567057  XM_001920226.1  XP_001920261.1 
    fruit fly
    (Drosophila melanogaster)
    Grd3 75A4 glycine-gated ion channel 43(a)
    (best of 3)
      --
    About this table        Species with no ortholog for GABRG3

    ENSEMBL Gene Tree for GABRG3
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for GABRG3 gene
    GABRG22  GABRE2  GABRG12  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/2474 NCBI SNPs in GABRG3 are shown (see all 2474 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 134)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 15 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs71830591,2
    A,C,F,H25397940(+) ataaaG/Agtgat 1 -- ng518Minor allele frequency- A:0.03EU EA WA 840
    rs47781091,2
    A,C,F,H25398195(+) CCTGTG/ACTTTA 1 -- ng518Minor allele frequency- A:0.33EU EA WA NA 774
    rs71675881,2
    A,C,F,H25397891(+) tttggG/Acacat 1 -- ng518Minor allele frequency- A:0.40EU EA WA 840
    --
    rs74030211,2
    A,C,F,H24798408(+) CTGAAC/TGATTA 1 -- ng518Minor allele frequency- T:0.15EU EA WA 838
    rs20667121,2
    C,F,H25446362(+) AGAAGA/GCAACA 1 T/A mis1 ese36Minor allele frequency- G:0.01NA EU EA WA 526
    --
    rs71659661,2
    A,C24798844(+) GCTCGC/TTCTCA 1 -- ng510--------
    --
    rs1406761,2
    C,F25399268(+) GAGAGA/C/TGCACA 1 -- ng511NA 14
    rs47781081,2
    F,H25398098(+) GCTTAG/CCATTT 1 -- ng513Minor allele frequency- C:0.34EA WA 258
    --
    rs22886951,2
    C,F24799254(-) cACACG/TGGACG 1 -- ng511Minor allele frequency- T:0.18EA 1290
    --
    rs66069041,2
    C24797910(+) AAAGGC/GGGGGA 1 -- ng510--------
    About this table

    HapMap Linkage Disequilibrium images for GABRG3 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 600233

    Genetic Association Database: GABRG3
    Human Genome Epidemiology Navigator: GABRG3 (7 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/18 PubMed articles for GABRG3 gene (see all 18 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     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, and/or H-InvDB)
    About This Section

    Entrez Gene: 2567 HGNC: 4088 AceView: GABRG3.1 Ensembl:ENSG00000182256 euGenes: HUgn2567
    ECgene: GABRG3 H-InvDB: GABRG3
    (According to HUGE)
    About This Section

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

    NameDescription
    Protein Spotlighthttp://www.expasy.org/spotlight/back_issues/sptlt056.shtml
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for GABRG3:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for GABRG3 Antibodies for GABRG3
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for GABRG3 Small molecules for GABRG3
     "Your Favorite Gene" Pathwaysfeedback


      
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     Recombinant Proteins
    (GABA A Receptor gamma 3)
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     Tocris compounds for GABRG3




     Drugs for GABRG3
     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Search Novus for antibodies for GABRG3

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