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GABRB2 Gene

protein-coding   GIFtS: 68
GCID: GC05M160715

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

  See GABRB2-related disease
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, Beta 21 2     GABA(A) Receptor, Beta 22
GABA(A) Receptor Subunit Beta-22 3     Gamma-Aminobutyric Acid A Receptor Beta 22
Beta 21     Gamma-Aminobutyric Acid Receptor Subunit Beta-22
GABA(A) Receptor1     

External Ids:    HGNC: 40821   Entrez Gene: 25612   Ensembl: ENSG000001458647   OMIM: 6002325   UniProtKB: P478703   

Export aliases for GABRB2 gene to outside databases

Previous GC identifers: GC05M160838 GC05M161228 GC05M160656 GC05M160701 GC05M160653 GC05M160648 GC05M155807


(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 GABRB2 Gene:
The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest
inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2
subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of
the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp
insertion. (provided by RefSeq, Jul 2008)

GeneCards Summary for GABRB2 Gene:
GABRB2 (gamma-aminobutyric acid (GABA) A receptor, beta 2) is a protein-coding gene. Diseases associated with GABRB2 include antisocial personality disorder. GO annotations related to this gene include inhibitory extracellular ligand-gated ion channel activity and chloride channel activity. An important paralog of this gene is GLRA2.

UniProtKB/Swiss-Prot: GBRB2_HUMAN, P47870
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 GABRB2 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 GABRB2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_023133.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the GABRB2 gene promoter:
         POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   CREB   HEN1   MEF-2A   deltaCREB   Chx10   aMEF-2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGABRB2 promoter sequence
   Search Chromatin IP Primers for GABRB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GABRB2


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

Entrez Gene cytogenetic band: 5q34   Ensembl cytogenetic band:  5q34   HGNC cytogenetic band: 5q34

GABRB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GABRB2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M160715:  view genomic region     (about GC identifiers)

Start:
160,715,436 bp from pter      End:
160,976,050 bp from pter
Size:
260,615 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: GBRB2_HUMAN, P47870 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor subunit beta-2 precursor  
Size: 512 amino acids; 59150 Da
Subunit: Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and
rho. Binds UBQLN1. Interacts with KCTD8, KCTD12 and KCTD16; this interaction determines the pharmacology and
kinetics of the receptor response, the KCTD proteins markedly accelerating the GABA-B response, although to
different extents (By similarity)
Secondary accessions: A8K115 A8K1A0 D1LYT0 D1LYT1 Q16323 Q4FZB2
Alternative splicing: 4 isoforms:  P47870-2   P47870-1   P47870-3   P47870-4   

Explore the universe of human proteins at neXtProt for GABRB2: NX_P47870

Explore proteomics data for GABRB2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys45
  • Glycosylation2 at Asn32, Asn104, Asn173
  • Modification sites at PhosphoSitePlus

  • See GABRB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000804.1  NP_068711.1  

    ENSEMBL proteins: 
     ENSP00000377531   ENSP00000429320   ENSP00000430532   ENSP00000274546   ENSP00000429750  
     ENSP00000274547  
    Reactome Protein details: P47870

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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: beta2
    GABAA receptors

    Selected InterPro protein domains (see all 6):
     IPR002289 GABAAb_rcpt
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006028 GABAA_rcpt
     IPR006201 Neur_channel
     IPR006202 Neur_chan_lig-bd

    Graphical View of Domain Structure for InterPro Entry P47870

    ProtoNet protein and cluster: P47870

    3 Blocks protein domains:
    IPB002289 Gamma-aminobutyric-acid A receptor beta subunit signature
    IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
    IPB006201 Neurotransmitter-gated ion-channel


    UniProtKB/Swiss-Prot: GBRB2_HUMAN, P47870
    Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC
    1.A.9.5) subfamily. GABRB2 sub-subfamily


    Find genes that share domains with GABRB2           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: GBRB2_HUMAN, P47870
    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 GABRB2:
    gamma-aminobutyric acid (GABA) A receptor,ionotropic,beta 2,subunit,component of a pentameric receptor mediating
    inhibitory neurotransmission

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004890GABA-A receptor activity ISS--
    GO:0005230extracellular ligand-gated ion channel activity ----
    GO:0005237inhibitory extracellular ligand-gated ion channel activity IEA--
    GO:0005254chloride channel activity IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with GABRB2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for GABRB2:
     Decreased Salmonella enterica   Increased gamma-H2AX phosphory 

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Gabrb2):
     behavior/neurological  hearing/vestibular/ear  homeostasis/metabolism  nervous system  skeleton 

    Find genes that share phenotypes with GABRB2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GABRB2: Gabrb2tm1Twr Gabrb2tm1.1Twr

       genOway: Develop your customized and physiologically relevant rodent model for GABRB2

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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
    GBRB2_HUMAN, P47870: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
    membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol2
    cytoskeleton1
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS8264558
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----

    Find genes that share ontologies with GABRB2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GABRB2 About   (see all 15)  
    See pathways by source

    SuperPathContained pathways About
    1GABA signaling in brain
    Synaptic Neurotransmission: GABAergic Inhibition0.32
    GABA signaling in brain0.32
    2Circadian entrainment
    GABAergic synapse0.53
    Retrograde endocannabinoid signaling0.51
    Morphine addiction0.53
    Serotonergic synapse0.33
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    4Ligand-gated ion channel transport
    GABA A receptor activation0.00
    Ligand-gated ion channel transport
    5GABA receptor activation
    GABA receptor activation0.73


    Find genes that share SuperPaths with GABRB2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for GABRB2
        Synaptic Neurotransmission: GABAergic Inhibition

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GABRB2
        Sperm Motility
    Akt Signaling

    1 Tocris Bioscience Pathway for GABRB2
        Akt Pathway

    2 GeneGo (Thomson Reuters) Pathways for GABRB2
        Signal transduction PKA signaling
    Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling


    2 Reactome Pathways for GABRB2
        GABA A receptor activation
    Ligand-gated ion channel transport

    1 PharmGKB Pathway for GABRB2
        Benzodiazepine Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for GABRB2) (see all 6):
        Neuroactive ligand-receptor interaction
    Retrograde endocannabinoid signaling
    Serotonergic synapse
    GABAergic synapse
    Morphine addiction

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GABRB2
    Interactions:

        GeneGlobe Interaction Network for GABRB2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for GABRB2 (P478702, 3 ENSP000002745474) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP3CAQ082093, ENSP000003783234I2D: score=2 STRING: ENSP00000378323
    ARFGEF2Q9Y6D53, ENSP000003609854I2D: score=1 STRING: ENSP00000360985
    PRKCBP057713, ENSP000003053554I2D: score=1 STRING: ENSP00000305355
    TRAK2O602963, ENSP000003288754I2D: score=2 STRING: ENSP00000328875
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8264558
    GO:0006811ion transport ----
    GO:0007214gamma-aminobutyric acid signaling pathway TAS8264558
    GO:0007268synaptic transmission TAS--
    GO:0007605sensory perception of sound IEA--

    Find genes that share ontologies with GABRB2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Compounds for GABRB2 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 GABRB2    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 GABRB2 (see all 25)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    EthchlorvynolAethyl-chlorvynol (see all 8)113-18-8targetagonist17139284 11752352 17016423
    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

    2 IUPHAR Ligands for GABRB2 (beta2)    About this table
    LigandTypeActionAffinityPubmed IDs
    TBPS
    Channel blockerNone--
    picrotoxin
    Channel blockerNone--



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

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    REFSEQ mRNAs for GABRB2 gene (2 alternative transcripts): 
    NM_000813.2  NM_021911.2  

    Unigene Cluster for GABRB2:

    Gamma-aminobutyric acid (GABA) A receptor, beta 2
    Hs.303527  [show with all ESTs]
    Unigene Representative Sequence: NM_021911
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000393959 ENST00000520240 ENST00000517901(uc021yhg.1) ENST00000353437
    ENST00000517547 ENST00000522758(uc011dei.1) ENST00000523730 ENST00000274547(uc011deh.1 uc003lyr.1 uc003lys.1 uc003lyt.1)

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    Additional mRNA sequence: 

    AK055125.1 AK289730.1 AK289815.1 AK294437.1 AK297609.1 BC036592.2 BC099705.1 BC099719.1 
    BC105639.1 GU086163.1 GU086164.1 S67368.1 S77553.1 S77554.1 

    5 DOTS entries:

    DT.92416980  DT.206062  DT.102823025  DT.100746805  DT.120819183 

    16 AceView cDNA sequences:

    CR621869 AL118953 NM_021911 S77554 NM_000813 S77553 BX327475 BX341214 
    BX341215 S67368 BE697211 BX493652 BE697247 CD609593 CD609591 CD609589 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for GABRB2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c
    SP1:              -                                                           -                     
    SP2:                                                                          -                     
    SP3:                                                                                                
    SP4:              -                 -                                                               
    SP5:        -                                                                                       


    ECgene alternative splicing isoforms for GABRB2

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

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    GABRB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    GABRB2 Expression
    About this image


    GABRB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Midbrain tegmentum
             Oligodendrocyte-like cells
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     NULL (Uncategorized)
             Neural rosettes
     
     Spinal Cord (Nervous System)
             Oligodendrocyte-like cells
     
     Neural Tube (Nervous System)
             Metencephalon
    GABRB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GABRB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.303527

    UniProtKB/Swiss-Prot: GBRB2_HUMAN, P47870
    Tissue specificity: Isoform 1 and isoform 2 show reduced expression in schizophrenic brain. Isoform 3 shows
    increased expression in schizophrenic and bipolar disorder brains while isoform 4 shows reduced expression

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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for GABRB2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gabrb21 , 5 gamma-aminobutyric acid (GABA) A receptor, subunit more1, 5 91.28(n)1
    99.79(a)1
      11 (25.08 cM)5
    144011  NM_008070.31  NP_032096.11 
     424197575 
    chicken
    (Gallus gallus)
    Aves GABRB21 gamma-aminobutyric acid (GABA) A receptor, beta 2 84.11(n)
    95.72(a)
      414890  NM_001277696.1  NP_001264625.1 
    lizard
    (Anolis carolinensis)
    Reptilia GABRB26
    gamma-aminobutyric acid (GABA) A receptor, beta 2
    92(a)
    1 ↔ 1
    1(106426715-106574636)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gabrb21 gamma-aminobutyric acid (GABA) A receptor, beta 2 79.32(n)
    91.56(a)
      100125027  NM_001102951.1  NP_001096421.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gabrb21 gamma-aminobutyric acid (GABA) A receptor, beta 2 72.35(n)
    81.95(a)
      336252  NM_001024387.2  NP_001019558.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Lcch33 GABA-A receptor 48(a)
    (best of 6)
      14A1   --
    worm
    (Caenorhabditis elegans)
    Secernentea F11H8.23 gamma-aminobutyric acid receptor 43(a)
    (best of 20)
      III(7080998-7091156)   --


    ENSEMBL Gene Tree for GABRB2 (if available)
    TreeFam Gene Tree for GABRB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GABRB2 gene
    GLRA22  GABRR12  GLRA12  GLRB2  GABRB12  GABRR32  GABRD2  GLRA42  
    GABRP2  GABRB32  GABRQ2  GLRA32  GABRR22  
    Selected SIMAP similar genes for GABRB2 using alignment to 5 protein entries:     GBRB2_HUMAN (see all proteins) (see all similar genes):
    GABRB3    GABRB1    DKFZp781L0846    GABRQ    GABRP    GABRR3
    GLRA4    GABRG3    GABRE    GABRA2    GLRA2    GABRD
    GABRG2    GABRR2    GABRA5    GABRA6    GABRG1    GLRA1

    Find genes that share paralogs with GABRB2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GABRB2 (see all 4696)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1504447111,2
    --160715010(+) TCTAAA/GCTTAA 2 -- ds50010--------
    rs361093931,2
    C,F--160715022(+) GAATAT/CTTACT 2 -- ds50014Minor allele frequency- C:0.07NA 126
    rs1867453001,2
    --160715074(+) ATATAC/TGCAGA 2 -- ds50010--------
    rs2529481,2
    C,A--160715091(-) TCATCG/ATTCCA 2 -- ds50014Minor allele frequency- A:0.16WA NA EA 360
    rs1382750791,2
    --160715226(+) TGTCTC/TTGCTT 2 -- ds50010--------
    rs787928151,2
    C,F--160715276(+) ATTACG/TCCTCA 2 -- ds50012Minor allele frequency- T:0.02NA 122
    rs1492048051,2
    C--160715393(+) TACTAA/TCAGTT 2 -- ds50010--------
    rs1912565051,2
    --160715485(+) CACACC/TAGCCA 2 -- ut310--------
    rs174581571,2
    C,F,H--160715499(+) TTATTA/GTATAT 2 -- ut318Minor allele frequency- G:0.01NA NS EA 626
    rs1849232111,2
    --160715531(+) AATAAC/GTTTAA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for GABRB2 (160715436 - 160965436 bp, first 250kb of GABRB2)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for GABRB2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2730986CNV Deletion23290073
    esv2659732CNV Deletion23128226
    esv2667994CNV Deletion23128226
    esv2730987CNV Deletion23290073
    nsv507303CNV Insertion20534489
    nsv883074CNV Loss21882294
    esv34078CNV Loss18971310
    nsv5100CNV Loss18451855
    esv7129CNV Gain19470904

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600232    OMIM disorders: --

    1 disease for GABRB2:    
    About MalaCards
    antisocial personality disorder

    2 diseases from the University of Copenhagen DISEASES database for GABRB2:
    Schizophrenia     Antisocial personality disorder

    Find genes that share disorders with GABRB2           About GenesLikeMe

    Genetic Association Database (GAD): GABRB2
    Human Genome Epidemiology (HuGE) Navigator: GABRB2 (30 documents)

    Export disorders for GABRB2 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 GABRB2 gene, integrated from 10 sources (see all 105):
    (articles sorted by number of sources associating them with GABRB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Alternative-splicing in the exon-10 region of GABA(A) receptor beta(2) subunit gene: relationships between novel isoforms and psychotic disorders. (PubMed id 19763268)1, 2, 4 Zhao C.... Xue H. (PLoS ONE 2009)
    2. No evidence for an association between variants at the gamma-amino-n-butyric acid type A receptor beta2 locus and schizophrenia. (PubMed id 17167345)1, 4, 9 Jamra R.A....Schumacher J. (Psychiatr. Genet. 2007)
    3. Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia. (PubMed id 18334916)1, 4, 9 Inada T....Arinami T. (Pharmacogenet. Genomics 2008)
    4. 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)
    5. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PubMed id 19367581)1, 4 So H.C....Sham P.C. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    6. 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)
    7. 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)
    8. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    9. Predicting the effect of naltrexone and acamprosate in alcohol-dependent patients using genetic indicators. (PubMed id 19523047)1, 4 Ooteman W....van den Brink W. (Addict Biol 2009)
    10. 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)

    (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: 2561 HGNC: 4082 AceView: GABRB2 Ensembl:ENSG00000145864 euGenes: HUgn2561
    ECgene: GABRB2 Kegg: 2561 H-InvDB: GABRB2

    (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 GABRB2 Pharmacogenomics, SNPs, Pathways
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/056

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GABRB2 gene:
    Search GeneIP for patents involving GABRB2

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



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