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GABRR2 Gene

protein-coding   GIFtS: 56

GC06M090023
gamma-aminobutyric acid (GABA) receptor, rho 2
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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Aliases
OTTHUMP00000040625 2
Descriptions
GABA(A) receptor subunit rho-2 3
GABA-C receptor, rho-2 subunit 2
gamma-aminobutyric acid (GABA) receptor, rho 2 2
gamma-aminobutyric acid receptor, rho 2 1
External Ids
HGNC: 40911
Entrez Gene: 25702
UniProtKB: P284763
Ensembl: ENSG000001118867
Search outside databases for aliases for GABRR2 gene

Previous GC identifers: GC06M089913 GC06M089962

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for GABRR2:
GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA
receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member
of the rho subunit family and is a component of the GABA receptor complex. [provided by RefSeq]

UniProtKB/Swiss-Prot: GBRR2_HUMAN, P28476
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. Rho-2 GABA receptor could play a role in retinal neurotransmission

Gene Wiki entry for GABRR2

(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 GABRR2 gene  

Entrez Gene cytogenetic band: 6q14-q21|6q13-q16.3   Ensembl cytogenetic band:  6q15   HGNC cytogenetic band: 6q14-q21

GABRR2 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 6         GeneLoc Exon Structure

GeneLoc location for GC06M090023:     (about GC identifiers)

Start:
90,023,958 bp from pter
End:
90,081,737 bp from pter
Size:
57,780 bases
Orientation:
minus strand
(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: GBRR2_HUMAN, P28476 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor subunit rho-2 precursor  
Size: 465 amino acids; 54151 Da
Subunit: Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma,
delta, and rho. Interacts with SQSTM1 (By similarity)
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane
protein. Cell membrane; Multi-pass membrane protein
Secondary accessions: A2BDE4 Q9H153

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_002034.2  

    ENSEMBL proteins: 
    ENSP00000386029 ENSP00000229606 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
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    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (GABRR2)
    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:0005887 integral to plasma membrane TAS1315307
    GO:0030054 cell junction IEA--
    GO:0045202 synapse IEA--
    GO:0045211 postsynaptic membrane IEA--
    About this table

    Antibodies for GABRR2: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for GABRR2
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (GABRR2), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for GABRR2

    Assays for GABRR2: 
    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
     IPR008059 GABAAa_rho2_rcpt
     IPR006029 Neu_channel_TM


       GeneDecks  GABRR2 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P28476

    ProtoNet protein and cluster: P28476

    4 Blocks protein families:
    IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
    IPB006201 Neurotransmitter-gated ion-channel
    IPB008057 Gamma-aminobutyric-acid A (GABAA) receptor rho subunit signature
    IPB008059 Gamma-aminobutyric-acid A (GABAA) receptor rho 2 subunit signature


    UniProtKB/Swiss-Prot: GBRR2_HUMAN, P28476
    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 (GABRR2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (GABRR2)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002043

                  Applied Biosystems Silencer® siRNAs for GABRR2

                  Sigma-Aldrich siRNA and siRNA Panels for GABRR2  
                         Sigma-Aldrich shRNA Panels and shRNA for GABRR2  
                         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_002043
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_002043
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_002043 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_002043

    UniProtKB/Swiss-Prot: GBRR2_HUMAN, P28476
    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. Rho-2 GABA receptor could play a role in retinal neurotransmission

    Genatlas biochemistry entry for GABRR2:
    gamma-aminobutyric acid (GABA) C receptor,ionotropic,rho 2,preferentially expressed in
    retina,subunit part of a trimeric 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 TAS1315307
    GO:0005216 ion channel activity IEA--
    GO:0005230 extracellular ligand-gated ion channel activity IEA--
    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 Sigma-Aldrich "Your Favorite Gene" Pathway for  GABRR2  (Your Favorite Gene powered by Ingenuity) 
     GABA Receptor Signaling

       GeneDecks  GABRR2 for the pathways selected above  
    About GeneDecksing

    1 Kegg Pathway  (Kegg details for GABRR2):
     hsa04080 Neuroactive ligand-receptor interaction

       GeneDecks  GABRR2 for the pathways selected above  
    About GeneDecksing

    5/17 Interacting proteins for GABRR2 (ENSP000002296063) via UniProtKB, MINT, and/or STRING (see all 17 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABRR1ENSP000003584633STRING (score=.924)
    GABRG3ENSP000003319123STRING (score=.825)
    GABRG1ENSP000002954523STRING (score=.824)
    GABRG2ENSP000003490003STRING (score=.823)
    GABRA1ENSP000000238973STRING (score=.822)
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811 ion transport IEA--
    GO:0007165 signal transduction TAS1315307
    GO:0007214 gamma-aminobutyric acid signaling pathway IEA--
    GO:0007268 synaptic transmission TAS1315307
    GO:0007601 visual perception IEA--
    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 GABRR2
    Browse Small Molecules at Sigma-Aldrich

    Compounds for GABRR2 available from Tocris Bioscience
    CompoundAction CAS number
    THIP hydrochlorideGABAA agonist[64603-91-4]
    MuscimolPotent GABAA agonist[2763-96-4]
    GABAEndogenous agonist[56-12-2]
    SKF 97541Extremely potent GABAB agonist[127729-35-5]
    1-EBIOActivator of epithelial Kca channels[10045-45-1]
    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 (GABRR2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (GABRR2)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002043

                  Sigma-Aldrich siRNA and siRNA Panels for GABRR2  
                         Sigma-Aldrich shRNA Panels and shRNA for GABRR2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_002043  

    REFSEQ mRNAs for GABRR2 gene: 

    NM_002043.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_002043  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_002043
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_002043
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_002043 

    4 AceView cDNA sequences:

    BX954216 M86868 NM_002043 BX490975 

    highest scoring ESTs for GABRR2:

    M86868 NM_002043 BQ362158 BX954216 BX490975 AA016195 BF673674 CR737449 DA659978 DA863180 


    GeneLoc Exon Structure

    2 Ensembl transcripts including schematic representations:
    ENST00000402938  ENST00000229606  
    (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

    GABRR2 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for GABRR2

    1 / 2 / 3

    3 probe-sets matching GABRR2 gene


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

    31551_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 M86868 1.00 0.90 0.95 1

    208217_at2, 3 U133-A 1 1.00 1.00 -- -- NM_002043 0.60 1.00 0.82 1

    208217_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GGGTAAAGGA

    Expression variation in blood from EXPOLDB for GABRR2

    (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 GABRR2 gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    GABRR21   -- gamma-aminobutyric acid (GABA) receptor, rho 2 91.7(n)
    92.86(a)
    481918  XM_539039.2  XP_539039.2 
    chimpanzee
    (Pan troglodytes)
    GABRR21   -- gamma-aminobutyric acid (GABA) receptor, rho 2 99.28(n)
    99.57(a)
    472069  XM_527448.2  XP_527448.2 
    rat
    (Rattus norvegicus)
    Gabrr21   -- gamma-aminobutyric acid (GABA) receptor, rho 2 88.24(n)
    91.18(a)
    29695  NM_017292.1  NP_058988.1 
    mouse
    (Mus musculus)
    Gabrr21, 5 4 (10.50 cM)5
    gamma-aminobutyric acid (GABA) C receptor, subunit more5
    gamma-aminobutyric acid (GABA-C) receptor, subunit more1
    86.87(n)1
    87.76(a)1
    144091  NM_008076.31  NP_032102.21 
     AF0246215  AK1326425  (see all 10)
    chicken
    (Gallus gallus)
    GABRR21   -- gamma-aminobutyric acid (GABA) receptor, rho 2 80.89(n)
    86.85(a)
    421815  XM_419839.2  XP_419839.2 
    About this table        Species with no ortholog for GABRR2

    ENSEMBL Gene Tree for GABRR2
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for GABRR2 gene
    GABRR12  

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


    10/414 NCBI SNPs in GABRR2 are shown (see all 414 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 147)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 6 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs2821291,2
    A,C,F,H,O90024217(-) CCAGAC/TGGGTT 1 T/M mis1 ese319Minor allele frequency- N:0.00EA NA EU WA 2298
    rs93626361,2
    A,C,F,H90083516(+) gaactA/Gcacag 1 -- ng314Minor allele frequency- G:0.23EU EA WA 420
    rs77443521,2
    A,C,F,H90083513(+) gtggaG/Actaca 1 -- ng314Minor allele frequency- A:0.32EU EA WA 416
    rs93536641,2
    A,F,H90082369(+) TAGGCT/CTTATT 1 -- ng314Minor allele frequency- C:0.22EU EA WA 410
    rs22362041,2
    C,F,H90081831(+) TCCCTG/TCTGAT 1 -- ng3113Minor allele frequency- T:0.17EA EU WA NA 2298
    --
    rs92944331,2
    A,C90082895(+) ttgtaA/Ttccca 1 -- ng310--------
    rs2821171,2
    A,C,F,H90038132(-) GACGTG/ACAGGT 1 V/V syn1 ese324Minor allele frequency- A:0.32EA NA MN EU WA 3450
    rs346170471,2
    F90066231(-) GTGGAC/TGAGCA 1 D/D syn11Minor allele frequency- T:0.03NA 72
    rs23252021,2
    A,C,F,H,O90068229(+) AGGGAG/TATCCT 1 -- int111Minor allele frequency- T:0.49EU EA WA NA 970
    rs37982561,2
    A,C,F,H90053124(-) AGGACC/TCCATC 1 -- int112Minor allele frequency- N:0.01EU EA WA NA 994
    About this table

    HapMap Linkage Disequilibrium images for GABRR2 (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: 137162

    Human Genome Epidemiology Navigator: GABRR2 (4 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

    10/14 PubMed articles for GABRR2 gene (see all 14 ):
    (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: 2570 HGNC: 4091 AceView: GABRR2 Ensembl:ENSG00000111886 euGenes: HUgn2570
    ECgene: GABRR2 H-InvDB: GABRR2
    (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

      --
    (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 GABRR2:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for GABRR2 Antibodies for GABRR2
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for GABRR2 Browse small molecules at Sigma-Aldrich
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     Drugs for GABRR2
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