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GABRR2 Gene

protein-coding   GIFtS: 61
GCID: GC06M089967

Gamma-Aminobutyric Acid (GABA) A Receptor, Rho 2

(Previous names: gamma-aminobutyric acid (GABA) receptor, rho 2)
  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)
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Aliases
Gamma-Aminobutyric Acid (GABA) A Receptor, Rho 21 2     GABA-C Receptor, Rho-2 Subunit2
GABA(A) Receptor1     Gamma-Aminobutyric Acid Receptor Subunit Rho-22
Gamma-Aminobutyric Acid (GABA) Receptor, Rho 21     GABA(A) Receptor Subunit Rho-23
Rho 21     GABA(C) Receptor3

External Ids:    HGNC: 40911   Entrez Gene: 25702   Ensembl: ENSG000001118867   OMIM: 1371625   UniProtKB: P284763   

Export aliases for GABRR2 gene to outside databases

Previous GC identifers: GC06M089913 GC06M089962 GC06M090023 GC06M087184


(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 GABRR2 Gene:
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, Jul 2008)

GeneCards Summary for GABRR2 Gene:
GABRR2 (gamma-aminobutyric acid (GABA) A receptor, rho 2) is a protein-coding gene. Diseases associated with GABRR2 include epilepsy syndrome, and essential tremor. GO annotations related to this gene include extracellular ligand-gated ion channel activity and protein domain specific binding. An important paralog of this gene is GLRA2.

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

summary for GABRR2 Gene:
GABAC receptors are Cys-loop ionotropic ligand-gated ion channels mediating the fast synaptic inhibitory
effects of GABA. Despite differing in physiology, biochemistry and pharmacology, GABAC receptors are viewed
as a subclass of GABAA receptors. GABAC receptors exist as both homo- and hetero-oligomeric pentamers of the
3 GABAC subunits which have so far been discovered; rho1, rho2, rho3. The resulting ion channel is not
blocked or modulated by GABAA receptor ligands, but is 10 times more sensitive to the effects of GABA and
selectively blocked by TPMPA. In addition, the GABAC receptor has a longer channel opening time and is
slower to desensitize. GABAC receptors are expressed in various brain regions and particularly high levels
are found in the retina.

Gene Wiki entry for GABRR2 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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Regulatory elements:
   Regulatory transcription factor binding sites in the GABRR2 gene promoter:
         HOXA9B   HOXA9   AML1a   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   Cdc5   POU3F2   Meis-1b   FOXC1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGABRR2 promoter sequence
   Search Chromatin IP Primers for GABRR2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GABRR2


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

Entrez Gene cytogenetic band: 6q15   Ensembl cytogenetic band:  6q15   HGNC cytogenetic band: 6q15

GABRR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GABRR2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M089967:  view genomic region     (about GC identifiers)

Start:
89,966,927 bp from pter      End:
90,025,018 bp from pter
Size:
58,092 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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)
Secondary accessions: A2BDE4 Q9H153
Alternative initiation: 2 isoforms:  P28476-1   P28476-2   (Isoform 2 could be translated from an upstream initiator ATG located in frame within the first coding exon. The probability of a signal peptide within this isoform is very low. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GABRR2: NX_P28476

Explore proteomics data for GABRR2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn120, Asn254
  • Modification sites at PhosphoSitePlus

  • See GABRR2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002034.3  
    ENSEMBL proteins: 
     ENSP00000386029   ENSP00000473450  
    Reactome Protein details: P28476

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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: rho2
    GABAA receptors

    Selected InterPro protein domains (see all 7):
     IPR008057 GABAAa_rho_rcpt
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006028 GABAA_rcpt
     IPR006201 Neur_channel
     IPR008059 GABAAa_rho2_rcpt

    Graphical View of Domain Structure for InterPro Entry P28476

    ProtoNet protein and cluster: P28476

    4 Blocks protein domains:
    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 ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC
    1.A.9.5) subfamily. GABRR2 sub-subfamily


    GABRR2 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 4 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--
    GO:0019904protein domain specific binding IEA--
         
    GABRR2 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Gabrr2 (no phenotypes)

    GABRR2 for phenotypes           About GeneDecksing

    Animal Models:
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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
    GBRR2_HUMAN, P28476: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
    membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS1315307
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----
    GO:0030054cell junction IEA--

    GABRR2 for ontologies           About GeneDecksing


    (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 GABRR2 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    2Circadian entrainment
    GABAergic synapse0.53
    Retrograde endocannabinoid signaling0.51
    Morphine addiction0.53
    3Ligand-gated ion channel transport
    Ligand-gated ion channel transport
    GABA A (rho) receptor activation0.00
    4GABA receptor activation
    GABA receptor activation0.73
    5Ion channel transport
    Ion channel transport0.58

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for GABRR2
        Sperm Motility


    2 Reactome Pathways for GABRR2
        Ligand-gated ion channel transport
    GABA A (rho) receptor activation


    5 Kegg Pathways  (Kegg details for GABRR2):
        Neuroactive ligand-receptor interaction
    Retrograde endocannabinoid signaling
    GABAergic synapse
    Morphine addiction
    Nicotine addiction


    GABRR2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABRR2: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GABRR2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for GABRR2 (P284763 ENSP000003860294) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SQSTM1Q135013, ENSP000003744554I2D: score=2 STRING: ENSP00000374455
    GABRR1P240463, ENSP000004126734I2D: score=1 STRING: ENSP00000412673
    MAP1BP468213, ENSP000002967554I2D: score=1 STRING: ENSP00000296755
    PRKCAP172523, ENSP000002843844I2D: score=1 STRING: ENSP00000284384
    CSNK2A1P684003, ENSP000002172444I2D: score=1 STRING: ENSP00000217244
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS1315307
    GO:0006811ion transport ----
    GO:0007165signal transduction TAS1315307
    GO:0007214gamma-aminobutyric acid signaling pathway IEA--
    GO:0007268synaptic transmission TAS--

    GABRR2 for ontologies           About GeneDecksing



    (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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    Compounds for GABRR2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    ZAPA sulfateAgonist at 'low affinity' GABAA receptor. More potent than GABA/muscimol[92138-10-8]
    THIP hydrochlorideGABAA agonist[64603-91-4]
    TPMPASelective GABAC antagonist[182485-36-5]

    2 HMDB Compounds for GABRR2    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 GABRR2 (see all 22)    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

    Selected IUPHAR Ligands for GABRR2 (rho2) (see all 13)    About this table
    LigandTypeActionAffinityPubmed IDs
    aza-THIP
    AntagonistAntagonist--
    TBPS
    Channel blockerNone--
    piperidine-4-sulphonic acid
    AntagonistAntagonist--
    muscimol
    AgonistPartial agonist--
    isoguvacine
    AgonistPartial agonist--
    trans-3-ACPBPA
    AntagonistAntagonist--
    cis-3-ACPBPA
    AntagonistAntagonist--
    THIP
    AntagonistAntagonist--
    5-Me-IAA
    AgonistFull agonist--
    (??)-cis-2-CAMP
    AgonistFull agonist--



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GABRR2 gene: 
    NM_002043.3  

    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000602432 ENST00000402938(uc011dzx.1 uc003pnb.2) ENST00000602808
    ENST00000602399
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    4 AceView cDNA sequences:

    NM_002043 M86868 BX954216 BX490975 

    GeneLoc Exon Structure


    (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)
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    GABRR2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCATTGACAA
    GABRR2 Expression
    About this image


    GABRR2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Mature Rod Bipolar Cells Inner Nuclear Layer
             Retina
     
     Neurons
             Mature Rod Bipolar Cells Inner Nuclear Layer
     
     Inner Cell Mass (Early Embryonic Tissues)
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
    GABRR2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GABRR2 Protein Expression
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABRR2: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRR2

    (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 chordates.

    Orthologs for GABRR2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gabrr21 , 5 gamma-aminobutyric acid (GABA) C receptor, subunit more1, 5 88.17(n)1
    90.11(a)1
      4 (14.64 cM)5
    144091  NM_008076.31  NP_032102.21 
     330629995 
    chicken
    (Gallus gallus)
    Aves GABRR21 gamma-aminobutyric acid (GABA) receptor, rho 2 80.89(n)
    86.85(a)
      421815  XM_419839.4  XP_419839.3 
    lizard
    (Anolis carolinensis)
    Reptilia GABRR26
    gamma-aminobutyric acid (GABA) A receptor, rho 2
    79(a)
    1 ↔ 1
    1(175025620-175065935)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gabrr21 gamma-aminobutyric acid (GABA) A receptor, rho 2 76.17(n)
    84.02(a)
      100486148  XM_002940315.2  XP_002940361.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.155562 Transcribed sequence with moderate similarity to protein more 81.53(n)    BM316919.1 


    ENSEMBL Gene Tree for GABRR2 (if available)
    TreeFam Gene Tree for GABRR2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GABRR2 gene
    GLRA22  GABRR12  GLRA12  GLRB2  GABRB12  GABRR32  GABRD2  GLRA42  
    GABRP2  GABRB32  GABRB22  GABRQ2  GLRA32  
    Selected SIMAP similar genes for GABRR2 using alignment to 1 protein entry:     GBRR2_HUMAN(see all similar genes):
    GABRR1    GABRR3    GABRP    GABRQ    GABRD    GLRA4
    GABRA4    DKFZp781L0846    GABRB3    GABRB1    GABRG2    GLRA1
    GLRA2    GLRA3    GABRB2    GABRA6    GABRA5    GABRA2

    GABRR2 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), 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 GABRR2 (see all 1409)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs755689601,2
    C,F--89966431(+) CAGCTA/GTAAAT 1 -- ds50011Minor allele frequency- G:0.04WA 118
    rs1866670811,2
    --89966444(+) ATGACC/TGACCC 1 -- ds50010--------
    rs2821301,2
    C,F,H--89966655(-) CAGACC/ACATTC 1 -- ds50017Minor allele frequency- A:0.10NS EA WA CSA 532
    rs47075341,2
    C,H--89966733(+) ACTTAG/TAGAAG 1 -- ds50014Minor allele frequency- T:0.00NS EA 410
    rs1497133691,2
    --89966744(+) ATCTCC/TAAGGA 1 -- ds50010--------
    rs1445663091,2
    --89966774(+) TCTACC/TGTACC 1 -- ds50010--------
    rs1121413921,2
    C,F--89966775(+) CTACCG/ATACCT 1 -- ds50011Minor allele frequency- A:0.02NA 120
    rs1134245151,2
    C--89966779(+) CGTACC/TTGGCA 1 -- ds50010--------
    rs1923354281,2
    --89966787(+) GCACAG/TAGTGG 1 -- ds50010--------
    rs1846703041,2
    --89966884(+) CCACAG/TGCCAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for GABRR2 (89966927 - 90025018 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for GABRR2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2732409CNV Deletion23290073
    esv2732408CNV Deletion23290073
    esv995301CNV Deletion20482838
    esv1009113CNV Deletion20482838
    nsv526732CNV Loss19592680
    nsv521230CNV Loss19592680
    nsv527444CNV Loss19592680

    Human Gene Mutation Database (HGMD): GABRR2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GABRR2
    DNA2.0 Custom Variant and Variant Library Synthesis for GABRR2

    (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.)
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    OMIM gene information: 137162    OMIM disorders: --

    11 diseases for GABRR2:    
    About MalaCards
    epilepsy syndrome    essential tremor    nicotine addiction    tremor
    schizoaffective disorder    alcohol dependence    anorexia nervosa    bipolar disorder
    retinitis    schizophrenia    neuronitis


    GABRR2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GABRR2
    Human Genome Epidemiology (HuGE) Navigator: GABRR2 (11 documents)

    Export disorders for GABRR2 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 GABRR2 gene, integrated from 10 sources (see all 38):
    (articles sorted by number of sources associating them with GABRR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4. (PubMed id 1315307)1, 2, 3 Cutting G.R....Uhl G.R. (Genomics 1992)
    2. Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder. (PubMed id 20583128)1, 4 Green E.K....Craddock N. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    3. GABRR1 and GABRR2, encoding the GABA-A receptor subunits rho1 and rho2, are associated with alcohol dependence. (PubMed id 19536785)1, 4 Xuei X....Edenberg H.J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    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. Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. (PubMed id 17913586)1, 4 Cavalleri G.L....Goldstein D.B. (Lancet Neurol 2007)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    10. A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level. (PubMed id 20222955)1, 9 Pattaro C....Pramstaller P.P. (BMC Med. Genet. 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: 2570 HGNC: 4091 AceView: GABRR2 Ensembl:ENSG00000111886 euGenes: HUgn2570
    ECgene: GABRR2 Kegg: 2570 H-InvDB: GABRR2

    (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)
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    NameDescription
    PharmGKB entry for GABRR2 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 GABRR2 gene:
    Search GeneIP for patents involving GABRR2

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



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