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GABRA6 Gene

protein-coding   GIFtS: 69
GCID: GC05P161045

Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 6

  See GABRA6-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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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 61 2     GABA Subunit A Receptor Alpha 62
GABA(A) Receptor Subunit Alpha-62 3     GABA(A) Receptor, Alpha 62
Alpha 61     Gamma-Aminobutyric Acid Receptor Subunit Alpha-62
GABA(A) Receptor1     

External Ids:    HGNC: 40801   Entrez Gene: 25592   Ensembl: ENSG000001458637   OMIM: 1371435   UniProtKB: Q164453   
ORGUL members:         

Export aliases for GABRA6 gene to outside databases

Previous GC identifers: GC05P161230 GC05P161620 GC05P161048 GC05P161093 GC05P156205


(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 GABRA6 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 GABRA6 Gene:
GABRA6 (gamma-aminobutyric acid (GABA) A receptor, alpha 6) is a protein-coding gene. Diseases associated with GABRA6 include heroin dependence, and antisocial personality disorder. 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: GBRA6_HUMAN, Q16445
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 GABRA6 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 GABRA6 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_023133.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the GABRA6 gene promoter:
         RP58   AML1a   HSF1 (long)   FOXO3   FOXD3   C/EBPalpha   FOXO3b   FOXL1   HSF1short   FOXO3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGABRA6 promoter sequence
   Search Chromatin IP Primers for GABRA6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GABRA6


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

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

GABRA6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GABRA6 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P161045:  view genomic region     (about GC identifiers)

Start:
160,974,069 bp from pter      End:
161,129,599 bp from pter
Size:
155,531 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: GBRA6_HUMAN, Q16445 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor subunit alpha-6 precursor  
Size: 453 amino acids; 51024 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: A8K096 Q4VAV2

Explore the universe of human proteins at neXtProt for GABRA6: NX_Q16445

Explore proteomics data for GABRA6 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn31, Asn128, Asn141
  • Modification sites at PhosphoSitePlus

  • See GABRA6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000802.2  
    ENSEMBL proteins: 
     ENSP00000274545   ENSP00000430527   ENSP00000429943   ENSP00000430212   ENSP00000427989  
    Reactome Protein details: Q16445

    GABRA6 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: alpha6
    GABAA receptors

    Selected InterPro protein domains (see all 7):
     IPR001390 GABAAa_rcpt
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006028 GABAA_rcpt
     IPR006201 Neur_channel
     IPR005436 GABBAa6_rcpt

    Graphical View of Domain Structure for InterPro Entry Q16445

    ProtoNet protein and cluster: Q16445

    4 Blocks protein domains:
    IPB001390 Gamma-aminobutyric-acid A receptor alpha subunit signature
    IPB005436 Gamma-aminobutyric-acid A receptor alpha 6 subunit signature
    IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
    IPB006201 Neurotransmitter-gated ion-channel


    UniProtKB/Swiss-Prot: GBRA6_HUMAN, Q16445
    Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC
    1.A.9.5) subfamily. GABRA6 sub-subfamily


    Find genes that share domains with GABRA6           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: GBRA6_HUMAN, Q16445
    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 GABRA6:
    gamma-aminobutyric acid (GABA) A receptor,ionotropic,alpha 6,subunit,component of a pentameric receptor mediating
    inhibitory neurotransmission,expressed in the cerebellar granule cells and the related cells of cochlear nucleus

         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 TAS8632757
         
    Find genes that share ontologies with GABRA6           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for GABRA6:
     Decreased Salmonella enterica   Increased G1 DNA content  Synthetic lethal with Ras 

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Gabra6):
     behavior/neurological  hearing/vestibular/ear  homeostasis/metabolism  nervous system  normal 

    Find genes that share phenotypes with GABRA6           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Gabra6tm1Geh for GABRA6

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GABRA6
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    hsa-miR-98 hsa-let-7d hsa-miR-586 hsa-miR-202 hsa-let-7c hsa-let-7i hsa-let-7g hsa-let-7e
    SwitchGear 3'UTR luciferase reporter plasmidGABRA6 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for GABRA6 

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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
    GBRA6_HUMAN, Q16445: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
    membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    lysosome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS8632757
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----
    GO:0030054cell junction IEA--

    Find genes that share ontologies with GABRA6           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GABRA6 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


    Find genes that share SuperPaths with GABRA6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for GABRA6
        Synaptic Neurotransmission: GABAergic Inhibition

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GABRA6
        Sperm Motility
    Akt Signaling

    1 Tocris Bioscience Pathway for GABRA6
        Akt Pathway

    2 Reactome Pathways for GABRA6
        GABA A receptor activation
    Ligand-gated ion channel transport


    5 Kegg Pathways  (Kegg details for GABRA6):
        Neuroactive ligand-receptor interaction
    Retrograde endocannabinoid signaling
    GABAergic synapse
    Morphine addiction
    Nicotine addiction

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABRA6: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GABRA6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for GABRA6 (ENSP000002745454) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABRA1ENSP000000238974STRING: ENSP00000023897
    GABRA2ENSP000003488974STRING: ENSP00000348897
    GABRA4ENSP000002643184STRING: ENSP00000264318
    GABRA5ENSP000003355924STRING: ENSP00000335592
    GABRB1ENSP000002954544STRING: ENSP00000295454
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8632757
    GO:0006811ion transport ----
    GO:0006821chloride transport ----
    GO:0007165signal transduction TAS8632757
    GO:0007214gamma-aminobutyric acid signaling pathway IEA--

    Find genes that share ontologies with GABRA6           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for GABRA6 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 GABRA6    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 GABRA6 (see all 32)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Flunitrazepam-- 1622-62-4targetpotentiator16554486 17976880 20638393
    Lorazepam(+/-)-Lorazepam (see all 3)846-49-1targetpotentiator20138190 18384456 11752090
    MethylphenobarbitalMephobarbital (see all 13)115-38-8targetpotentiator10209232 11264449 21194017
    Amobarbital-- 57-43-2targetpotentiator10209232 11264449
    Aprobarbital-- 77-02-1targetpotentiator10209232 11264449
    Barbital-- 57-44-3targetpotentiator10209232 11264449
    Barbituric acid derivative-- --targetpotentiator10209232 11264449
    ButabarbitalButabarbital Sodium (see all 8)125-40-6targetpotentiator10209232 11264449
    ButalbitalAllylbarbital (see all 2)77-26-9targetpotentiator10209232 11264449
    Butethal5-Butyl-5-ethyl-2,4,6(1H,3H,5H)-pyrimidinetrione (see all 10)77-28-1targetpotentiator10209232 11264449

    Selected IUPHAR Ligands for GABRA6 (alpha6) (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 GABRA6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gaba 59 2 8632757 (1), 12946574 (1)

    3 PharmGKB related drug/compound annotations for GABRA6 gene    About this table
    Drug/compound PharmGKB Annotation
    Selective serotonin reuptake inhibitorsCA  
    antidepressantsCA  
    venlafaxineCA  



    Find genes that share compounds with GABRA6           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GABRA6 gene: 
    NM_000811.2  

    Unigene Cluster for GABRA6:

    Gamma-aminobutyric acid (GABA) A receptor, alpha 6
    Hs.90791  [show with all ESTs]
    Unigene Representative Sequence: NM_000811
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000522269 ENST00000518888 ENST00000274545 ENST00000523217(uc003lyu.2)
    ENST00000524220 ENST00000520000 ENST00000517823 ENST00000523691 ENST00000521520(uc003lyv.2)

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    Additional mRNA sequence: 

    AK090735.1 AK289461.1 BC096241.3 BC096242.3 BC099640.3 BC099641.3 S81944.1 

    4 DOTS entries:

    DT.209578  DT.120819196  DT.95191076  DT.120819139 

    16 AceView cDNA sequences:

    BX488017 F10732 F13129 BX488001 BX508021 AK090735 S81944 NM_000811 
    CK003547 BX279910 AW952267 BG220722 BG211331 AA297014 AA297038 R38700 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for GABRA6    About this scheme

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


    ECgene alternative splicing isoforms for GABRA6

    (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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    GABRA6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGAGGCCT
    GABRA6 Expression
    About this image


    GABRA6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Pons
    GABRA6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GABRA6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.90791
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABRA6: 
              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 animals.

    Orthologs for GABRA6 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gabra61 , 5 gamma-aminobutyric acid (GABA) A receptor, subunit more1, 5 86.71(n)1
    91.98(a)1
      11 (25.03 cM)5
    143991  NM_001099641.11  NP_001093111.11 
     423064375 
    chicken
    (Gallus gallus)
    Aves GABRA61 gamma-aminobutyric acid (GABA) A receptor, alpha 6 79.49(n)
    84.34(a)
      395931  NM_205058.1  NP_990389.1 
    lizard
    (Anolis carolinensis)
    Reptilia GABRA66
    gamma-aminobutyric acid (GABA) A receptor, alpha 6...
    79(a)
    1 ↔ 1
    1(106695728-106744132)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gabra61 gamma-aminobutyric acid (GABA) A receptor, alpha 6 72.94(n)
    77.78(a)
      100488862  XM_002943182.2  XP_002943228.2 
    zebrafish
    (Danio rerio)
    Actinopterygii BC059508.12   -- 74.21(n)   393704  BC059508.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Grd3
    CG89161
    glycine-gated ion channel3
    CG89161
    52(a)
    (best of 2)3
    53.11(n)1
    48.85(a)1
      75A43
    325531  NM_001169299.11  NP_001162770.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F11H8.23
    lgc-371
    gamma-aminobutyric acid receptor3
    lgc-371
    35(a)3
    46.02(n)1
    36.59(a)1
      III(7080998-7091156)3
    1766941  NM_067261.41  NP_499662.21 


    ENSEMBL Gene Tree for GABRA6 (if available)
    TreeFam Gene Tree for GABRA6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GABRA6 gene
    GABRG22  GABRE2  GABRA22  GABRA42  GABRG12  GABRA52  GABRG32  GABRA32  
    GABRA12  
    Selected SIMAP similar genes for GABRA6 using alignment to 5 protein entries:     GBRA6_HUMAN (see all proteins) (see all similar genes):
    GABRA5    GABRA2    GABRA3    GABRA4    GABRA1    GABRG3
    GABRG2    GABRE    GABRG1    GLRA3    GABRB3    GLRA4
    GABRP    GABRB1    GABRQ    GLRA2    GABRR2    GABRB2

    Find genes that share paralogs with GABRA6           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GABRA6 (see all 455)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0360334
    A colorectal cancer sample4--see VAR_0360332 P H mis40--------
    rs1378925571,2
    --161110690(+) CACCAA/GTGATA 1 -- us2k10--------
    rs1928085851,2
    --161110898(+) CAGGAA/GGAGGA 1 -- us2k10--------
    rs567293171,2
    F--161110911(+) AACAAC/TACATG 1 -- us2k11Minor allele frequency- T:0.05WA 118
    rs93138921,2
    C--161110992(+) actagG/Atgatg 1 -- us2k14Minor allele frequency- A:0.21NA WA EA 360
    rs1852668651,2
    --161111040(+) ACCTAA/TGTAAC 1 -- us2k10--------
    rs753325441,2
    C--161111092(+) AAATTA/TAATTT 1 -- us2k10--------
    rs1424276571,2
    --161111136(+) ACCCTC/TACAAA 1 -- us2k10--------
    rs19926471,2
    C,F,A,H--161111174(-) TACCAT/CTCATC 1 -- us2k117Minor allele frequency- C:0.48NS EA NA WA CSA 967
    rs1477797071,2
    C--161111193(+) AAAAA-/AGAAAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GABRA6 (160974069 - 161129599 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for GABRA6:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv34078CNV Loss18971310
    dgv6365n71CNV Loss21882294
    nsv883074CNV Loss21882294

    Human Gene Mutation Database (HGMD): GABRA6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GABRA6
    DNA2.0 Custom Variant and Variant Library Synthesis for GABRA6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 137143    OMIM disorders: --

    4 diseases for GABRA6:    
    About MalaCards
    heroin dependence    antisocial personality disorder    asperger syndrome    alcohol dependence

    2 diseases from the University of Copenhagen DISEASES database for GABRA6:
    Antisocial personality disorder     Alcohol dependence

    Find genes that share disorders with GABRA6           About GenesLikeMe

    Genetic Association Database (GAD): GABRA6
    Human Genome Epidemiology (HuGE) Navigator: GABRA6 (28 documents)

    Export disorders for GABRA6 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 GABRA6 gene, integrated from 10 sources (see all 58):
    (articles sorted by number of sources associating them with GABRA6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. GABRA6 gene polymorphism and an attenuated stress response. (PubMed id 15197399)1, 4, 9 Uhart M....Wand G.S. (Mol. Psychiatry 2004)
    2. Cloning of cDNAs encoding the human gamma-aminobutyric acid type A receptor alpha 6 subunit and characterization of the pharmacology of alpha 6-containing receptors. (PubMed id 8632757)1, 2, 9 Hadingham K.L.... Whiting P.J. (Mol. Pharmacol. 1996)
    3. Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up. (PubMed id 21041608)1, 4 van Winkel R. (Arch. Gen. Psychiatry 2011)
    4. Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder. (PubMed id 20583128)1, 4 Green E.K....Craddock N. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    5. 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. Predicting the effect of naltrexone and acamprosate in alcohol-dependent patients using genetic indicators. (PubMed id 19523047)1, 4 Ooteman W....van den Brink W. (Addict Biol 2009)
    8. Association study between GABA receptor genes and anxiety spectrum disorders. (PubMed id 19842164)1, 4 Pham X....Hettema J.M. (Depress Anxiety 2009)
    9. Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome. (PubMed id 19598235)1, 4 Chakrabarti B....Baron-Cohen S. (Autism Res 2009)
    10. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2559 HGNC: 4080 AceView: GABRA6 Ensembl:ENSG00000145863 euGenes: HUgn2559
    ECgene: GABRA6 Kegg: 2559 H-InvDB: GABRA6

    (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 GABRA6 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 GABRA6 gene:
    Search GeneIP for patents involving GABRA6

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



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