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GABRA4 Gene

protein-coding   GIFtS: 68
GCID: GC04M046836

Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 4

  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 41 2
Alpha 41
GABA(A) Receptor1
GABA(A) Receptor, Alpha 42
Gamma-Aminobutyric Acid Receptor Subunit Alpha-42
GABA(A) Receptor Subunit Alpha-43

External Ids:    HGNC: 40781   Entrez Gene: 25572   Ensembl: ENSG000001091587   OMIM: 1371415   UniProtKB: P481693   

Export aliases for GABRA4 gene to outside databases

Previous GC identifers: GC04M047001 GC04M047239 GC04M046778 GC04M046761 GC04M046615 GC04M046239


(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 GABRA4 Gene:
Gamma-aminobutyric acid (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. This gene encodes subunit alpha-4, which is involved in the etiology of
autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid
receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found
in this gene.(provided by RefSeq, Feb 2011)

GeneCards Summary for GABRA4 Gene:
GABRA4 (gamma-aminobutyric acid (GABA) A receptor, alpha 4) is a protein-coding gene. Diseases associated with GABRA4 include status epilepticus, and wolfram syndrome. 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: GBRA4_HUMAN, P48169
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 GABRA4 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 GABRA4 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 GABRA4 gene promoter:
         LHX3b/Lhx3b   MEF-2   c-Ets-1   MEF-2A   POU2F1   POU2F1a   LHX3a/Lhx3a   aMEF-2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGABRA4 promoter sequence
   Search Chromatin IP Primers for GABRA4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GABRA4


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

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

GABRA4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GABRA4 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M046836:  view genomic region     (about GC identifiers)

Start:
46,920,917 bp from pter      End:
46,996,424 bp from pter
Size:
75,508 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GBRA4_HUMAN, P48169 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor subunit alpha-4 precursor  
Size: 554 amino acids; 61623 Da
Subunit: Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho
Secondary accessions: Q8IYR7

Explore the universe of human proteins at neXtProt for GABRA4: NX_P48169

Explore proteomics data for GABRA4 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn47, Asn144, Asn157
  • Modification sites at PhosphoSitePlus

  • See GABRA4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000800.2  NP_001191195.1  NP_001191196.1  

    ENSEMBL proteins: 
     ENSP00000264318   ENSP00000422152   ENSP00000425445   ENSP00000424386  
    Reactome Protein details: P48169

    GABRA4 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: alpha4
    GABAA receptors

    Selected InterPro protein domains (see all 7):
     IPR005434 GABBAa4_rcpt
     IPR001390 GABAAa_rcpt
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006028 GABAA_rcpt
     IPR006201 Neur_channel

    Graphical View of Domain Structure for InterPro Entry P48169

    ProtoNet protein and cluster: P48169

    4 Blocks protein domains:
    IPB001390 Gamma-aminobutyric-acid A receptor alpha subunit signature
    IPB005434 Gamma-aminobutyric-acid A receptor alpha 4 subunit signature
    IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
    IPB006201 Neurotransmitter-gated ion-channel


    UniProtKB/Swiss-Prot: GBRA4_HUMAN, P48169
    Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC
    1.A.9.5) subfamily. GABRA4 sub-subfamily


    GABRA4 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: GBRA4_HUMAN, P48169
    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
    Induction: The alpha4 beta2 gamma 2L receptor is not repressed by diazepam

         Genatlas biochemistry entry for GABRA4:
    gamma-aminobutyric acid (GABA) A receptor,ionotropic,alpha 4,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 TAS8719416
         
    GABRA4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GABRA4:
     Increased G1 DNA content 

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Gabra4):
     behavior/neurological  integument  nervous system  no phenotypic analysis  normal 

    GABRA4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gabra4tm1.1Geh for GABRA4

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GABRA4
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GABRA4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GABRA4

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate GABRA4 (see all 67):
    hsa-miR-607 hsa-miR-1260b hsa-miR-485-3p hsa-miR-3909 hsa-miR-3148 hsa-miR-3688-3p hsa-miR-130a* hsa-miR-23c
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRA4


    (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
    GBRA4_HUMAN, P48169: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
    membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum1

    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 TAS8719416
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----
    GO:0030054cell junction IEA--

    GABRA4 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 GABRA4 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 GABRA4
        Synaptic Neurotransmission: GABAergic Inhibition

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GABRA4
        Sperm Motility
    Akt Signaling

    1 Tocris Bioscience Pathway for GABRA4
        Akt Pathway


    2 Reactome Pathways for GABRA4
        GABA A receptor activation
    Ligand-gated ion channel transport


    5 Kegg Pathways  (Kegg details for GABRA4):
        Neuroactive ligand-receptor interaction
    Retrograde endocannabinoid signaling
    GABAergic synapse
    Morphine addiction
    Nicotine addiction


    GABRA4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABRA4: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GABRA4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for GABRA4 (P481693 ENSP000002643184) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKCGP051293, ENSP000002634314I2D: score=2 STRING: ENSP00000263431
    GABRA1ENSP000000238974STRING: ENSP00000023897
    GABRA2ENSP000003488974STRING: ENSP00000348897
    GABRA5ENSP000003355924STRING: ENSP00000335592
    GABRA6ENSP000002745454STRING: ENSP00000274545
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8719416
    GO:0006811ion transport ----
    GO:0007214gamma-aminobutyric acid signaling pathway IEA--
    GO:0007268synaptic transmission TAS--
    GO:0007417central nervous system development IEA--

    GABRA4 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 compounds at ApexBio 

    Compounds for GABRA4 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 GABRA4    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 GABRA4 (see all 33)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Flunitrazepam-- 1622-62-4targetagonist17139284 20858465 17016423 17976880 20638393
    Lorazepam(+/-)-Lorazepam (see all 3)846-49-1targetpotentiator20138190 18384456 11752090
    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
    EthchlorvynolAethyl-chlorvynol (see all 8)113-18-8targetagonist17139284 17016423
    Flurazepam-- 17617-23-1targetpotentiator18384456 11752090
    MeprobamateDEA No. 2820 (see all 7)57-53-4targetagonist19244096 9067327
    MethylphenobarbitalMephobarbital (see all 13)115-38-8targetpotentiator10209232 21194017

    Selected IUPHAR Ligands for GABRA4 (alpha4) (see all 20)    About this table
    LigandTypeActionAffinityPubmed IDs
    gabazine
    AntagonistAntagonist--
    tetrahydrodeoxycorticosterone
    Allosteric regulatorPotentiation--
    TBPS
    Channel blockerNone--
    piperidine-4-sulphonic acid
    AgonistFull agonist--
    5alpha-pregnan-3alpha-ol-20-one
    Allosteric regulatorPotentiation--
    muscimol
    AgonistFull agonist--
    [35S]TBPS
    NoneNone--
    [3H]CGS8216
    NoneNone--
    [3H]muscimol
    NoneNone--
    isoguvacine
    AgonistFull agonist--

    1 Novoseek inferred chemical compound relationship for GABRA4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gaba 60.2 2 16091474 (1), 18471802 (1)



    GABRA4 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GABRA4 gene (3 alternative transcripts): 
    NM_000809.3  NM_001204266.1  NM_001204267.1  

    Unigene Cluster for GABRA4:

    Gamma-aminobutyric acid (GABA) A receptor, alpha 4
    Hs.248112  [show with all ESTs]
    Unigene Representative Sequence: NM_000809
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264318(uc021xnz.1 uc021xoa.1 uc003gxg.3) ENST00000511523
    ENST00000508560 ENST00000502874 ENST00000509316
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    Additional mRNA sequence: 

    AF238869.1 AK090780.1 BC035055.1 BC036474.1 BC037926.2 BC042117.1 U30461.1 

    1 DOTS entry:

    DT.75173889 

    Selected AceView cDNA sequences (see all 33):

    BC037926 AK090780 NM_000809 CD013893 BI545660 BG623491 AF238869 AL157669 
    BC036474 AV728959 BF310474 U30461 BC042117 BC035055 BI599812 C15082 
    BG204759 CD013892 BX493490 BG706756 AL705643 BG201159 BI545886 BI598814 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for GABRA4    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
    SP1:                                -                                             
    SP2:                    -           -                                             
    SP3:                    -           -                             -               
    SP4:                                                                              


    ECgene alternative splicing isoforms for GABRA4

    (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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    GABRA4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAAAAAGAA
    GABRA4 Expression
    About this image


    GABRA4 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
     
     Heart (Cardiovascular System)
             Outflow Tract
     
     Ovary (Reproductive System)
             Pre-Granulosa Cells Primordial Follicle
     
     Testis (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Neurons
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
    GABRA4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GABRA4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.248112
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABRA4: 
              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 GABRA4 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gabra41 , 5 gamma-aminobutyric acid (GABA) A receptor, subunit more1, 5 87.3(n)1
    90.93(a)1
      5 (38.08 cM)5
    143971  NM_010251.21  NP_034381.11 
     715697345 
    chicken
    (Gallus gallus)
    Aves GABRA41 gamma-aminobutyric acid (GABA) A receptor, alpha 4 78.68(n)
    81.34(a)
      422770  XM_420724.4  XP_420724.2 
    lizard
    (Anolis carolinensis)
    Reptilia GABRA46
    gamma-aminobutyric acid (GABA) A receptor, alpha 4...
    87(a)
    1 ↔ 1
    GL343293.1(31975-92679)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1102041 zgc:110204 67.17(n)
    74.06(a)
      550520  NM_001017822.1  NP_001017822.1 


    ENSEMBL Gene Tree for GABRA4 (if available)
    TreeFam Gene Tree for GABRA4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GABRA4 gene
    GABRG22  GABRE2  GABRA22  GABRA62  GABRG12  GABRA52  GABRG32  GABRA32  
    GABRA12  
    Selected SIMAP similar genes for GABRA4 using alignment to 3 protein entries:     GBRA4_HUMAN (see all proteins) (see all similar genes):
    GABRA5    GABRA1    GABRA3    GABRA2    GABRA6    GABRG2
    GABRG3    GABRE    GABRG1    GABRR1    GABRR2    GLRA1
    GABRP    GLRA2    GABRD    GLRA4    GLRA3    GABRR3

    GABRA4 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 GABRA4 (see all 1617)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0360324
    A breast cancer sample4--see VAR_0360322 S R mis40--------
    rs1460642171,2
    Cuntested146806294(+) TCTTTC/TGCATT 3 -- ut310--------
    rs2005929321,2
    --46246711(+) TTATT-/ATT   
      ATTATC
    ATCAT
    3 -- cds10--------
    rs1387040361,2
    C--46246714(+) TTATT-/ATTATC
            
    ATCAT
    3 -- cds10--------
    rs3739371811,2
    C--46315492(+) gtgtg-/GA/TG 
            
    agaga
    3 -- us2k10--------
    rs1822115991,2
    --46800646(+) CCACAC/TAGTGA 3 -- ds50010--------
    rs1395286741,2
    --46800662(+) TTCTAG/TTATGC 3 -- ds50010--------
    rs1445012741,2
    --46800665(+) TATTAC/TGCCAC 3 -- ds50010--------
    rs1466433511,2
    --46800776(+) ATTGGC/TCATAC 3 -- ds50010--------
    rs100043591,2
    C,F,H--46800799(+) GTTAAG/ATAAAA 3 -- ds500122Minor allele frequency- A:0.25NA NS EA WA CSA 2480

    HapMap Linkage Disequilibrium report for GABRA4 (46920917 - 46996424 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GABRA4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv879002CNV Loss21882294
    nsv470031CNV Gain18288195

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GABRA4
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 137141    OMIM disorders: --

    18 diseases for GABRA4:    
    About MalaCards
    status epilepticus    wolfram syndrome    tardive dyskinesia    essential tremor
    nicotine dependence    nicotine addiction    tremor    schizoaffective disorder
    alcohol dependence    anorexia nervosa    celiac disease    bipolar disorder
    breast and colorectal cancer    mental retardation    schizophrenia    cerebritis
    colorectal cancer    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for GABRA4:
    Nicotine dependence     Schizoaffective disorder

    GABRA4 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for GABRA4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    status epilepticus 56.5 4 16091474 (1), 16901909 (1)
    epilepsy 28 5 16091474 (1), 16901909 (1)

    Genetic Association Database (GAD): GABRA4
    Human Genome Epidemiology (HuGE) Navigator: GABRA4 (19 documents)

    Export disorders for GABRA4 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 GABRA4 gene, integrated from 10 sources (see all 53):
    (articles sorted by number of sources associating them with GABRA4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mapping of the alpha 4 subunit gene (GABRA4) to human chromosome 4 defines an alpha 2-alpha 4-beta 1-gamma 1 gene cluster: further evidence that modern GABAA receptor gene clusters are derived from an ancestral cluster. (PubMed id 7607683)1, 2, 3 McLean P.J.... Russek S.J. (Genomics 1995)
    2. Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. (PubMed id 16080114)1, 4, 9 Ma D.Q....Pericak-Vance M.A. (Am. J. Hum. Genet. 2005)
    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. 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. 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. 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)
    8. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (PLoS Genet. 2009)
    9. Further evidence for an association between the gamma-aminobutyric acid receptor A, subunit 4 genes on chromosome 4 and FagerstrAPm Test for Nicotine Dependence. (PubMed id 19207358)1, 4 Agrawal A....Madden P.A. (Addiction 2009)
    10. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. (PubMed id 19736351)1, 4 Guilmatre A....Campion D. (Arch. Gen. Psychiatry 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 2557 HGNC: 4078 AceView: GABRA4 Ensembl:ENSG00000109158 euGenes: HUgn2557
    ECgene: GABRA4 Kegg: 2557 H-InvDB: GABRA4

    (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 GABRA4 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 GABRA4 gene:
    Search GeneIP for patents involving GABRA4

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



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