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GABRA3 Gene

protein-coding   GIFtS: 66
GCID: GC0XM151334

Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 3

  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 31 2     GABA(A) Receptor, Alpha 32
GABA(A) Receptor Subunit Alpha-32 3     Gamma-Aminobutyric Acid Receptor Subunit Alpha-32
Alpha 31     Gamma-Animobutyric Acid (GABA) A Receptor, Alpha 32
GABA(A) Receptor1     

External Ids:    HGNC: 40771   Entrez Gene: 25562   Ensembl: ENSG000000116777   OMIM: 3056605   UniProtKB: P349033   

Export aliases for GABRA3 gene to outside databases

Previous GC identifers: GC0XM145671 GC0XM147993 GC0XM149084 GC0XM149954 GC0XM151007 GC0XM151085 GC0XM140189


(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 GABRA3 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. (provided by RefSeq, Jul 2008)

GeneCards Summary for GABRA3 Gene:
GABRA3 (gamma-aminobutyric acid (GABA) A receptor, alpha 3) is a protein-coding gene. Diseases associated with GABRA3 include thyrotoxic periodic paralysis 1, and mucopolysaccharidosis ii. 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: GBRA3_HUMAN, P34903
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 GABRA3 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 GABRA3 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_000023.11  NT_011681.17  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GABRA3 gene promoter:
         AML1a   p53   Nkx2-5   NRSF form 2   Nkx5-1   C/EBPalpha   PPAR-gamma1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGABRA3 promoter sequence
   Search Chromatin IP Primers for GABRA3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GABRA3


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

GABRA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GABRA3 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM151334:  view genomic region     (about GC identifiers)

Start:
151,334,706 bp from pter      End:
151,619,831 bp from pter
Size:
285,126 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: GBRA3_HUMAN, P34903 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor subunit alpha-3 precursor  
Size: 492 amino acids; 55165 Da
Subunit: Binds UBQLN1 (By similarity). Generally pentameric. There are five types of GABA(A) receptor chains:
alpha, beta, gamma, delta, and rho
Secondary accessions: Q8TAF9

Explore the universe of human proteins at neXtProt for GABRA3: NX_P34903

Explore proteomics data for GABRA3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn63, Asn163, Asn176, Asn228
  • Modification sites at PhosphoSitePlus

  • See GABRA3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000799.1  
    ENSEMBL proteins: 
     ENSP00000359337   ENSP00000443527  
    Reactome Protein details: P34903

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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: alpha3
    GABAA receptors

    Selected InterPro protein domains (see all 7):
     IPR005433 GABBAa3_rcpt
     IPR001390 GABAAa_rcpt
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006028 GABAA_rcpt
     IPR006201 Neur_channel

    Graphical View of Domain Structure for InterPro Entry P34903

    ProtoNet protein and cluster: P34903

    4 Blocks protein domains:
    IPB001390 Gamma-aminobutyric-acid A receptor alpha subunit signature
    IPB005433 Gamma-aminobutyric-acid A receptor alpha 3 subunit signature
    IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
    IPB006201 Neurotransmitter-gated ion-channel


    UniProtKB/Swiss-Prot: GBRA3_HUMAN, P34903
    Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC
    1.A.9.5) subfamily. GABRA3 sub-subfamily


    GABRA3 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: GBRA3_HUMAN, P34903
    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 GABRA3:
    gamma-aminobutyric acid (GABA) A receptor,ionotropic,alpha 3,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 TAS8391122
         
    GABRA3 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for GABRA3:
     Abundance of large cells with   Increased viability after born 

         4 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Gabra3):
     behavior/neurological  homeostasis/metabolism  nervous system  no phenotypic analysis 

    GABRA3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gabra3tm2Uru for GABRA3

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    hsa-mir-26b-5p (MIRT029587)

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    Selected qRT-PCR Assays for microRNAs that regulate GABRA3 (see all 11):
    hsa-miR-34c-5p hsa-miR-550a hsa-miR-449b hsa-miR-765 hsa-miR-3175 hsa-miR-759 hsa-miR-449a hsa-miR-34a
    SwitchGear 3'UTR luciferase reporter plasmidGABRA3 3' UTR sequence
    Inhib. RNA
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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
    GBRA3_HUMAN, P34903: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
    membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    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 TAS8391122
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----
    GO:0030054cell junction IEA--

    GABRA3 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 GABRA3 About   (see all 12)                                                                                              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
    GABA A receptor activation0.00
    Ligand-gated ion channel transport
    4GABA receptor activation
    GABA receptor activation0.73
    5Akt Signaling
    Akt Signaling0.60

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GABRA3
        Sperm Motility
    Akt Signaling

    1 Tocris Bioscience Pathway for GABRA3
        Akt Pathway


    2 Reactome Pathways for GABRA3
        GABA A receptor activation
    Ligand-gated ion channel transport


    5 Kegg Pathways  (Kegg details for GABRA3):
        Neuroactive ligand-receptor interaction
    Retrograde endocannabinoid signaling
    GABAergic synapse
    Morphine addiction
    Nicotine addiction


    GABRA3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GABRA3
    Interactions:

        Search GeneGlobe Interaction Network for GABRA3

    2 Interacting proteins for GABRA3 (P349032, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIK3R1P279862, 3MINT-8112015 I2D: score=3 
    UBQLN1Q9UMX03I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8391122
    GO:0006811ion transport ----
    GO:0007214gamma-aminobutyric acid signaling pathway IEA--
    GO:0007268synaptic transmission TAS--
    GO:0034220ion transmembrane transport TAS--

    GABRA3 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 Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for GABRA3 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 GABRA3    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 GABRA3 (see all 45)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Diazepam-- 439-14-5targetpotentiator18384456 11752090 15009644
    Flunitrazepam-- 1622-62-4targetpotentiator17139284 17016423 20638393
    Lorazepam(+/-)-Lorazepam (see all 3)846-49-1targetpotentiator20138190 18384456 11752090
    MethylphenobarbitalMephobarbital (see all 13)115-38-8targetpotentiator10209232 11264449 21194017
    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
    Barbituric acid derivative-- --targetpotentiator10209232 11264449

    Selected IUPHAR Ligands for GABRA3 (alpha3) (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 GABRA3 gene: 
    NM_000808.3  

    Unigene Cluster for GABRA3:

    Gamma-aminobutyric acid (GABA) A receptor, alpha 3
    Hs.123024  [show with all ESTs]
    Unigene Representative Sequence: NM_000808
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370314(uc010ntk.1) ENST00000535043 ENST00000497894 ENST00000417858

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    Additional mRNA sequence: 

    AK312404.1 BC028629.1 S62908.1 

    3 DOTS entries:

    DT.40125283  DT.91933487  DT.91755251 

    2 AceView cDNA sequences:

    BX951994 BI546888 

    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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    GABRA3 expression in normal human tissues (normalized intensities)      GABRA3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    GABRA3 Expression
    About this image


    GABRA3 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 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    GABRA3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GABRA3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.123024
        Custom PCR Arrays for GABRA3
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRA3

    (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 GABRA3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gabra31 , 5 gamma-aminobutyric acid (GABA) A receptor, subunit more1, 5 91.11(n)1
    96.33(a)1
      X (37.24 cM)5
    143961  NM_008067.41  NP_032093.31 
     724326815 
    chicken
    (Gallus gallus)
    Aves GABRA31 gamma-aminobutyric acid (GABA) A receptor, alpha 3 79.73(n)
    87.39(a)
      422289  XM_004940729.1  XP_004940786.1 
    lizard
    (Anolis carolinensis)
    Reptilia GABRA36
    gamma-aminobutyric acid (GABA) A receptor, alpha 3...
    84(a)
    1 ↔ 1
    GL343376.1(966235-974094)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gabra31 gamma-aminobutyric acid (GABA) A receptor, alpha 3 73.39(n)
    82.02(a)
      100494398  XM_002939197.2  XP_002939243.2 
    zebrafish
    (Danio rerio)
    Actinopterygii gabra36
    gamma-aminobutyric acid (GABA) A receptor, alpha 3...
    82(a)
    1 ↔ 1
    21(42810115-43145999) ENSDARG00000090883
    fruit fly
    (Drosophila melanogaster)
    Insecta Grd1 , 3 glycine-gated ion channel3
    Glycine receptor1
    46(a)
    (best of 2)3
    53.64(n)1
    47.27(a)1
      75A43
    399841  NM_079407.31  NP_524131.11 


    ENSEMBL Gene Tree for GABRA3 (if available)
    TreeFam Gene Tree for GABRA3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GABRA3 gene
    GABRG22  GABRE2  GABRA22  GABRA62  GABRA42  GABRG12  GABRA52  GABRG32  
    GABRA12  
    Selected SIMAP similar genes for GABRA3 using alignment to 1 protein entry:     GBRA3_HUMAN(see all similar genes):
    GABRA5    GABRA2    GABRA1    GABRA4    GABRA6    GABRG2
    GABRG3    GABRE    GABRG1    GLRA4    GABRP    GABRB3
    DKFZp781L0846    GABRB1    GLRA2    GLRA1    GLRA3    GABRD

    GABRA3 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 GABRA3 (see all 4352)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1411430011,2
    C--151201702(+) TGGGCC/TGAGAC 1 -- ds50010--------
    rs1436473701,2
    --151201799(+) GGCCCA/GCTGAG 1 -- ds50010--------
    rs1121223391,2
    C--151201966(+) ATTGCA/GTATTT 1 -- ds50010--------
    rs790839791,2
    C--151201993(+) CTCAC-/ATTAAG
            
    ATTAA
    1 -- ds50010--------
    rs1133753981,2
    C--151202027(+) TAATAA/TATTAT 1 -- ds50010--------
    rs1418894291,2
    --151202032(+) TATTAG/TAAAAT 1 -- ds50010--------
    rs78816451,2
    C,F,H--151202171(+) AAGTGC/TCTGGG 1 -- ut31 ese39Minor allele frequency- T:0.03NS EA NA 1184
    rs1838833091,2
    C--151202216(+) AATTTG/TACTTT 1 -- ut310--------
    rs1391497921,2
    C--151202237(+) TAGCCC/TTCTCT 1 -- ut310--------
    rs1887765991,2
    --151202330(+) AGGTGA/TCTTTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for GABRA3 (151334706 - 151584706 bp, first 250kb of GABRA3)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GABRA3 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2740615CNV Deletion23290073
    esv2740614CNV Deletion23290073
    nsv508814CNV Insertion20534489
    esv1338349CNV Insertion17803354
    esv1092318CNV Insertion17803354
    esv1157238CNV Insertion17803354
    nsv7157CNV Insertion18451855
    nsv513629CNV Insertion21212237
    esv1010518CNV Loss20482838
    esv995871CNV Loss20482838

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GABRA3
    DNA2.0 Custom Variant and Variant Library Synthesis for GABRA3

    (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: 305660    OMIM disorders: --

    Selected diseases for GABRA3 (see all 27):    About MalaCards
    thyrotoxic periodic paralysis 1    mucopolysaccharidosis ii    color blindness    centronuclear myopathy
    mucopolysaccharidosis    nicotine addiction    tardive dyskinesia    rett syndrome
    blindness    angelman syndrome    autism spectrum disorder    migraine
    anorexia nervosa    myopathy    major depressive disorder    bipolar disorder
    multiple sclerosis    schizophrenia    tonsillitis    hepatocellular carcinoma

    1 disease from the University of Copenhagen DISEASES database for GABRA3:
    Color blindness

    GABRA3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GABRA3
    Human Genome Epidemiology (HuGE) Navigator: GABRA3 (18 documents)

    Export disorders for GABRA3 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 GABRA3 gene, integrated from 10 sources (see all 73):
    (articles sorted by number of sources associating them with GABRA3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of genetic variants in GABRA3 gene and thyrotoxic hypokalaemic periodic paralysis in Thai population. (PubMed id 17970773)1, 4, 9 Jongjaroenprasert W....Ongphiphadhanakul B. (Clin. Endocrinol. (Oxf) 2008)
    2. Lack of association between polymorphic variations in the alpha 3 subunit GABA receptor gene (GABRA3) and suicide attempts. (PubMed id 14751442)1, 4, 9 Baca-Garcia E....de Leon J. (amp 2004)
    3. Association study between GABA receptor genes and anxiety spectrum disorders. (PubMed id 19842164)1, 4, 9 Pham X....Hettema J.M. (Depress Anxiety 2009)
    4. 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)
    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. 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)
    7. 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)
    8. Genetical genomic determinants of alcohol consumption in rats and humans. (PubMed id 19874574)1, 4 Tabakoff B....Hoffman P.L. (BMC Biol. 2009)
    9. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)1, 4 de Krom M....van Ree J.M. (Biol. Psychiatry 2009)
    10. The gamma amino butyric acid (GABA) receptor alpha-3 subunit gene polymorphism in unipolar depressive disorder: a genetic association study. (PubMed id 15048654)1, 4 Henkel V....Bondy B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2004)

    (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: 2556 HGNC: 4077 AceView: GABRA3.1 Ensembl:ENSG00000011677 euGenes: HUgn2556
    ECgene: GABRA3 Kegg: 2556 H-InvDB: GABRA3

    (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 GABRA3 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 GABRA3 gene:
    Search GeneIP for patents involving GABRA3

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



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