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GABRA2 Gene

protein-coding   GIFtS: 67
GCID: GC04M046167

Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 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, Alpha 21 2
GABA(A) Receptor Subunit Alpha-22 3
Alpha 21
GABA(A) Receptor1
GABA(A) Receptor, Alpha 22
Gamma-Aminobutyric Acid Receptor Subunit Alpha-22

External Ids:    HGNC: 40761   Entrez Gene: 25552   Ensembl: ENSG000001518347   OMIM: 1371405   UniProtKB: P478693   

Export aliases for GABRA2 gene to outside databases

Previous GC identifers: GC04M046323 GC04M046561 GC04M046101 GC04M046092 GC04M045946 GC04M045569


(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 GABRA2 Gene:
GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are
ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as
benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been
identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Nov 2013)

GeneCards Summary for GABRA2 Gene:
GABRA2 (gamma-aminobutyric acid (GABA) A receptor, alpha 2) is a protein-coding gene. Diseases associated with GABRA2 include alcohol dependence, and cannabis dependence. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRG2.

UniProtKB/Swiss-Prot: GBRA2_HUMAN, P47869
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 GABRA2 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 GABRA2 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:
NC_000004.12  NT_006238.12  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GABRA2 gene promoter:
         Nkx6-1   p53   Pax-2   Pax-2a   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGABRA2 promoter sequence
   Search Chromatin IP Primers for GABRA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GABRA2


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

Entrez Gene cytogenetic band: 4p12   Ensembl cytogenetic band:  4p12   HGNC cytogenetic band: 4p12

GABRA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GABRA2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M046167:  view genomic region     (about GC identifiers)

Start:
46,250,444 bp from pter      End:
46,477,247 bp from pter
Size:
226,804 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: GBRA2_HUMAN, P47869 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor subunit alpha-2 precursor  
Size: 451 amino acids; 51326 Da
Subunit: Binds UBQLN1 (By similarity). Generally pentameric. There are five types of GABA(A) receptor chains:
alpha, beta, gamma, delta, and rho
Sequence caution: Sequence=BAD92532.1; Type=Erroneous initiation;
Secondary accessions: A8K0U7 Q59G14

Explore the universe of human proteins at neXtProt for GABRA2: NX_P47869

Explore proteomics data for GABRA2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn38, Asn138
  • Modification sites at PhosphoSitePlus

  • See GABRA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000798.2  NP_001107647.1  NP_001273756.1  

    ENSEMBL proteins: 
     ENSP00000421828   ENSP00000421300   ENSP00000371033   ENSP00000348897   ENSP00000422642  
     ENSP00000427603   ENSP00000421639   ENSP00000423840   ENSP00000425240   ENSP00000425526  
     ENSP00000424362   ENSP00000424093   ENSP00000422805   ENSP00000444409  
    Reactome Protein details: P47869

    GABRA2 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

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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: alpha2
    GABAA receptors

    Selected InterPro protein domains (see all 7):
     IPR001390 GABAAa_rcpt
     IPR005432 GABBAa2_rcpt
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006028 GABAA_rcpt
     IPR006201 Neur_channel

    Graphical View of Domain Structure for InterPro Entry P47869

    ProtoNet protein and cluster: P47869

    4 Blocks protein domains:
    IPB001390 Gamma-aminobutyric-acid A receptor alpha subunit signature
    IPB005432 Gamma-aminobutyric-acid A receptor alpha 2 subunit signature
    IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
    IPB006201 Neurotransmitter-gated ion-channel


    UniProtKB/Swiss-Prot: GBRA2_HUMAN, P47869
    Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC
    1.A.9.5) subfamily. GABRA2 sub-subfamily


    GABRA2 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: GBRA2_HUMAN, P47869
    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 GABRA2:
    gamma-aminobutyric acid (GABA) A receptor,ionotropic,alpha 2,subunit,component of a pentameric 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:0008503benzodiazepine receptor activity IMP8391122
         
    GABRA2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GABRA2:
     Decreased nuclei size in G2M 

         6 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Gabra2):
     behavior/neurological  homeostasis/metabolism  integument  mortality/aging  nervous system 
     no phenotypic analysis 

    GABRA2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GABRA2: Gabra2tm1.1Geh Gabra2tm2.2Uru Gabra2tm1Dns

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GABRA2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GABRA2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GABRA2

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate GABRA2 (see all 9):
    hsa-miR-374b* hsa-miR-3671 hsa-miR-607 hsa-miR-548p hsa-miR-105 hsa-miR-4274 hsa-miR-591 hsa-miR-493*
    SwitchGear 3'UTR luciferase reporter plasmidGABRA2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GABRA2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRA2


    (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
    GBRA2_HUMAN, P47869: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
    membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    peroxisome2
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----
    GO:0030054cell junction IEA--
    GO:0030285integral component of synaptic vesicle membrane IDA8391122

    GABRA2 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 GABRA2 About   (see all 12)  
    See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for GABRA2
        Synaptic Neurotransmission: GABAergic Inhibition

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GABRA2
        Sperm Motility
    Akt Signaling

    1 Tocris Bioscience Pathway for GABRA2
        Akt Pathway

    2 Reactome Pathways for GABRA2
        GABA A receptor activation
    Ligand-gated ion channel transport


    5 Kegg Pathways  (Kegg details for GABRA2):
        Neuroactive ligand-receptor interaction
    Retrograde endocannabinoid signaling
    GABAergic synapse
    Morphine addiction
    Nicotine addiction


    GABRA2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABRA2: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GABRA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for GABRA2 (P478693 ENSP000003488974) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MDM2Q009873I2D: score=1 
    GABRA1ENSP000000238974STRING: ENSP00000023897
    GABRA4ENSP000002643184STRING: ENSP00000264318
    GABRA5ENSP000003355924STRING: ENSP00000335592
    GABRA6ENSP000002745454STRING: ENSP00000274545
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001505regulation of neurotransmitter levels IMP8391122
    GO:0006810transport ----
    GO:0006811ion transport ----
    GO:0006821chloride transport ----
    GO:0006836neurotransmitter transport IMP8391122

    GABRA2 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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       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for GABRA2 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 GABRA2    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 GABRA2 (see all 46)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Flunitrazepam-- 1622-62-4targetpotentiator17139284 20858465 17016423 2570451 17976880 20638393
    Diazepam-- 439-14-5targetpotentiator18384456 11752090 15009644
    Lorazepam(+/-)-Lorazepam (see all 3)846-49-1targetpotentiator20138190 18384456 11752090
    MethylphenobarbitalMephobarbital (see all 13)115-38-8targetpotentiator10209232 11264449 21194017
    Quinidine barbiturate-- --targetpotentiator10209232 11264449 15169831
    Zopiclone(+-)-zopiclone (see all 4)43200-80-2targetpotentiator20303942 19942638 18973287
    Adinazolam-- 37115-32-5targetpotentiator6320036 6148400
    Amobarbital-- 57-43-2targetpotentiator10209232 11264449
    Aprobarbital-- 77-02-1targetpotentiator10209232 11264449
    Barbital-- 57-44-3targetpotentiator10209232 11264449

    Selected IUPHAR Ligands for GABRA2 (alpha2) (see all 34)    About this table
    LigandTypeActionAffinityPubmed IDs
    piperidine-4-sulphonic acid
    AgonistFull agonist--
    5alpha-pregnan-3alpha-ol-20-one
    Allosteric regulatorPotentiation--
    [3H]flunitrazepam
    NoneNone--
    [35S]TBPS
    NoneNone--
    TPA023
    Allosteric regulatorPartial agonist--
    [3H]muscimol
    NoneNone--
    isoguvacine
    AgonistFull agonist--
    isonipecotic acid
    AgonistAgonist--
    [11C]flumazenil
    NoneNone--
    alpha5IA
    Allosteric regulatorInverse 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 GABRA2 gene (3 alternative transcripts): 
    NM_000807.2  NM_001114175.1  NM_001286827.1  

    Unigene Cluster for GABRA2:

    Gamma-aminobutyric acid (GABA) A receptor, alpha 2
    Hs.116250  [show with all ESTs]
    Unigene Representative Sequence: NM_001114175
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000510861 ENST00000514090 ENST00000381620(uc010igc.2) ENST00000356504(uc003gxc.3)
    ENST00000510233 ENST00000507069 ENST00000513005 ENST00000515082(uc003gxe.3)
    ENST00000514236 ENST00000514193 ENST00000503806 ENST00000506961 ENST00000507460(uc010igd.1)
    ENST00000509716 ENST00000540012(uc011bzc.1)
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      QuantiTect SYBR Green Assays in human, mouse, rat GABRA2
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    Additional mRNA sequence: 

    AB209295.1 AK125179.1 AK289662.1 AK293466.1 AK307128.1 BC022488.1 S62907.1 

    9 DOTS entries:

    DT.100730139  DT.40118515  DT.451945  DT.121227076  DT.101983883  DT.101983881  DT.101983887  DT.95254812 
    DT.40240103 

    Selected AceView cDNA sequences (see all 37):

    R39763 AI634558 AK125179 AL134748 CD014108 CD014115 CD014114 CD014113 
    CD014110 BF594289 AW043891 CD014109 AI801878 CD014107 BI757084 CD014111 
    CD014112 CD014117 BG699503 NM_000807 S62907 BC022488 R16175 T65530 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GABRA2 (see all 14)    About this scheme

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


    ECgene alternative splicing isoforms for GABRA2

    (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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    GABRA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAATAAATAT
    GABRA2 Expression
    About this image


    GABRA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
    GABRA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GABRA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.116250
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABRA2: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for GABRA2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gabra21 , 5 gamma-aminobutyric acid (GABA) A receptor, subunit more1, 5 90.84(n)1
    97.78(a)1
      5 (37.59 cM)5
    143951  NM_008066.31  NP_032092.11 
     709610575 
    chicken
    (Gallus gallus)
    Aves GABRA21 gamma-aminobutyric acid (GABA) A receptor, alpha 2 83.67(n)
    93.65(a)
      770511  XM_004936060.1  XP_004936117.1 
    lizard
    (Anolis carolinensis)
    Reptilia GABRA26
    gamma-aminobutyric acid (GABA) A receptor, alpha 2...
    89(a)
    1 ↔ 1
    5(103032219-103134422)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gabra21 gamma-aminobutyric acid (GABA) A receptor, alpha 2 76.59(n)
    87.05(a)
      100170583  XM_002933463.2  XP_002933509.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1001507041 gamma-aminobutyric acid receptor subunit alpha-2-like 72.8(n)
    86.25(a)
      100150704  XM_001920056.3  XP_001920091.3 


    ENSEMBL Gene Tree for GABRA2 (if available)
    TreeFam Gene Tree for GABRA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GABRA2 gene
    GABRG22  GABRE2  GABRA62  GABRA42  GABRG12  GABRA52  GABRG32  GABRA32  
    GABRA12  
    Selected SIMAP similar genes for GABRA2 using alignment to 12 protein entries:     GBRA2_HUMAN (see all proteins) (see all similar genes):
    GABRA5    GABRA1    GABRA3    GABRA4    GABRA6    GABRG2
    GABRG3    GABRE    GABRB1    GABRG1    GABRP    GABRB3
    GABRD    GLRA4    GLRA2    DKFZp781L0846    GABRB2    GLRA1

    GABRA2 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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    GBRA2_HUMAN, P47869: Genetic variations in GABRA2 determine the genetic susceptibility to alcoholism [MIM:103780]


    Selected SNPs for GABRA2 (see all 2955)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2017361331,2
    Cuntested146132571(+) AGATTC/TGGGGC 4 P syn10--------
    rs2000447301,2
    C--45572646(-) GAAAAA/CTTTTT 2 -- int10--------
    rs1386239131,2
    C--45617566(+) ATCCC-/ATATATATAT
    ATATATATATAT
    ATATA
    2 -- int10--------
    rs767144981,2
    C--45697752(+) CCGGCT/CGCCCC 2 -- int11Minor allele frequency- C:0.00NA 2
    rs96857601,2
    C--45698050(+) gccgcC/Gccatc 2 -- int10--------
    rs362100701,2
    C--45705208(+) CTAAC-/ATAT  
      ATATAT
    ATATA
    2 -- int10--------
    rs1494656341,2
    C--45705208(+) CTAAC-/ATATAT
    ATATATAT
    ATATA
    2 -- int10--------
    rs1885258721,2
    --46131095(+) TGTGTA/GTATGT 2 -- ds50010--------
    rs117347291,2
    C,A,H--46131097(+) tgtgtG/Atgttt 2 -- ds50011Minor allele frequency- A:0.50NA 2
    rs765127681,2
    C--46131101(+) TATGTG/TTGTGC 2 -- ds50011Minor allele frequency- T:0.50NA 2

    HapMap Linkage Disequilibrium report for GABRA2 (46250444 - 46477247 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GABRA2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2641107CNV Deletion19546169
    nsv527418CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GABRA2
    DNA2.0 Custom Variant and Variant Library Synthesis for GABRA2

    (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: 137140   
    OMIM disorders: 103780  
    15 diseases for GABRA2:    
    About MalaCards
    alcohol dependence    cannabis dependence    nicotine addiction    cocaine dependence
    wolfram syndrome    drug dependence    conduct disorder    nicotine dependence
    schizoaffective disorder    anorexia nervosa    bipolar disorder    mental retardation
    schizophrenia    obesity    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for GABRA2:
    Alcohol dependence     Cannabis dependence     Conduct disorder

    GABRA2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GABRA2
    Human Genome Epidemiology (HuGE) Navigator: GABRA2 (42 documents)

    Export disorders for GABRA2 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 GABRA2 gene, integrated from 10 sources (see all 109):
    (articles sorted by number of sources associating them with GABRA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Variations in GABRA2, encoding the alpha 2 subunit of the GABA(A) receptor, are associated with alcohol dependence and with brain oscillations. (PubMed id 15024690)1, 2, 4 Edenberg H.J.... Begleiter H. (Am. J. Hum. Genet. 2004)
    2. GABA-A2 receptor subunit gene (GABRA2) polymorphisms and risk for alcohol dependence. (PubMed id 17207817)1, 4, 9 Soyka M....Bondy B. (J Psychiatr Res 2008)
    3. 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)
    4. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)1, 4 RuaA+o G....Wu A.H. (Pharmacogenomics 2010)
    5. 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)
    6. Analysis of extreme drinking in patients with alcohol dependence using Pareto regression. (PubMed id 20225194)1, 4 Das S....Kranzler H.R. (Stat Med 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. Test of association between GABRA2 (SNP rs279871) and adolescent conduct/alcohol use disorders utilizing a sample of clinic referred youth with serious substance and conduct problems, controls and available first degree relatives. (PubMed id 19783384)1, 4 Sakai J.T....Ehringer M.A. (Drug Alcohol Depend 2010)
    9. The influence of GABRA2, childhood trauma, and their interaction on alcohol, heroin, and cocaine dependence. (PubMed id 19833324)1, 4 Enoch M.A....Roy A. (Biol. Psychiatry 2010)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 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: 2555 HGNC: 4076 AceView: GABRA2 Ensembl:ENSG00000151834 euGenes: HUgn2555
    ECgene: GABRA2 Kegg: 2555 H-InvDB: GABRA2

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for GABRA2 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 GABRA2 gene:
    Search GeneIP for patents involving GABRA2

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



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