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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GABRA5 Gene

protein-coding   GIFtS: 66
GCID: GC15P027112

Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 5

  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)
About This Section

Aliases
Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 51 2
GABA(A) Receptor Subunit Alpha-52 3
Alpha 51
GABA(A) Receptor1
Gamma-Aminobutyric Acid Receptor Subunit Alpha-52

External Ids:    HGNC: 40791   Entrez Gene: 25582   Ensembl: ENSG000001862977   OMIM: 1371425   UniProtKB: P316443   

Export aliases for GABRA5 gene to outside databases

Previous GC identifers: GC15P023334 GC15P020091 GC15P024593 GC15P024722 GC15P024663 GC15P005288


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GABRA5 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. Transcript variants utilizing three different alternative non-coding first exons have been described.
(provided by RefSeq, Jul 2008)

GeneCards Summary for GABRA5 Gene: 
GABRA5 (gamma-aminobutyric acid (GABA) A receptor, alpha 5) is a protein-coding gene. Diseases associated with GABRA5 include childhood absence epilepsy, and focal epilepsy, and among its related super-pathways are Synaptic Neurotransmission: GABAergic Inhibition and Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell. GO annotations related to this gene include chloride channel activity and receptor activity. An important paralog of this gene is GABRG2.

UniProtKB/Swiss-Prot: GBRA5_HUMAN, P31644
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 GABRA5 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 GABRA5 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_026446.14  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GABRA5 gene promoter:
         SRF   Max1   AML1a   SRF (504 AA)   NCX/Ncx   HSF1 (long)   MIF-1   Max   HSF1short   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGABRA5 promoter sequence
   Search SABiosciences Chromatin IP Primers for GABRA5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GABRA5


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

Entrez Gene cytogenetic band: 15q12   Ensembl cytogenetic band:  15q12   HGNC cytogenetic band: 15q12

GABRA5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GABRA5 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P027112:  view genomic region     (about GC identifiers)

Start:
27,111,510 bp from pter      End:
27,194,357 bp from pter
Size:
82,848 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GBRA5_HUMAN, P31644 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor subunit alpha-5 precursor  
Size: 462 amino acids; 52146 Da
Subunit: Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
membrane; Multi-pass membrane protein
Secondary accessions: A8K338 Q14DC2 Q53XL6 Q9NYT3 Q9NYT4 Q9NYT5

Explore the universe of human proteins at neXtProt for GABRA5: NX_P31644

Explore proteomics data for GABRA5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P31644

  • GABRA5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GABRA5 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000801.1  NP_001158509.1  

    ENSEMBL proteins: 
     ENSP00000335592   ENSP00000347557   ENSP00000450653   ENSP00000451527   ENSP00000450806  
     ENSP00000450932   ENSP00000450717   ENSP00000450529   ENSP00000382953  
    Reactome Protein details: P31644
    Human Recombinant Protein Products for GABRA5: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS1321750
    GO:0016020membrane ----
    GO:0016021integral to membrane ----
    GO:0030054cell junction IEA--

    GABRA5 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    GABRA: Ligand-gated ion channels / GABA(A) receptors
    GABR: GABA receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: α5 
    GABAA receptors

    5/7 InterPro protein domains (see all 7):
     IPR001390 GABAAa_rcpt
     IPR005435 GABBAa5_rcpt
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006028 GABAA_rcpt
     IPR006201 Neur_channel

    Graphical View of Domain Structure for InterPro Entry P31644

    ProtoNet protein and cluster: P31644

    4 Blocks protein domains:
    IPB001390 Gamma-aminobutyric-acid A receptor alpha subunit signature
    IPB005435 Gamma-aminobutyric-acid A receptor alpha 5 subunit signature
    IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
    IPB006201 Neurotransmitter-gated ion-channel


    UniProtKB/Swiss-Prot: GBRA5_HUMAN, P31644
    Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC
    1.A.9.5) subfamily. GABRA5 sub-subfamily


    GABRA5 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GBRA5_HUMAN, P31644
    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 GABRA5:
    gamma-aminobutyric acid (GABA) A receptor,ionotropic,alpha 5,mainly expressed in the brain,with three
    isoforms,region specific,may be involved in the susceptibility to bipolar affective disorder (?
    MAFD10),subunit,component of a pentameric receptor mediating inhibitory neurotransmission

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity TAS1321750
    GO:0004890GABA-A receptor activity IEA--
    GO:0005215transporter activity TAS1321750
    GO:0005216ion channel activity ----
    GO:0005230extracellular ligand-gated ion channel activity IEA--
         
    GABRA5 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Gabra5):
     behavior/neurological  hearing/vestibular/ear  nervous system  no phenotypic analysis  skeleton 

    GABRA5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gabra5tm1Twr for GABRA5

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GABRA5 
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    SwitchGear 3'UTR luciferase reporter plasmidGABRA5 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GABRA5 About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1GABA A receptor activation
    GABA A receptor activation0.48
    Synaptic Neurotransmission: GABAergic Inhibition0.45
    Ligand-gated ion channel transport0.48
    GABA signaling in brain0.32
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    3Circadian entrainment
    GABAergic synapse0.53
    Retrograde endocannabinoid signaling0.51
    Morphine addiction0.53
    4Activation of GABAB receptors
    GABA receptor activation0.72
    5Akt Signaling
    Akt Signaling0.60

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for GABRA5
        GABA signaling in brain

    1 R&D Systems Pathway for GABRA5
        Synaptic Neurotransmission: GABAergic Inhibition

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GABRA5
        Sperm Motility
    Akt Signaling

    1 Tocris Bioscience Pathway for GABRA5
        Akt Pathway

    5/8        Reactome Pathways for GABRA5 (see all 8)
        GABA A receptor activation
    Ligand-gated ion channel transport
    Transmission across Chemical Synapses
    Ion channel transport
    Neuronal System


    5         Kegg Pathways  (Kegg details for GABRA5):
        Neuroactive ligand-receptor interaction
    Retrograde endocannabinoid signaling
    GABAergic synapse
    Morphine addiction
    Nicotine addiction


    GABRA5 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GABRA5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/11 Interacting proteins for GABRA5 (ENSP000003355924) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABRA1ENSP000000238974STRING: ENSP00000023897
    GABRA2ENSP000003488974STRING: ENSP00000348897
    GABRA3ENSP000003593344STRING: ENSP00000359334
    GABRA4ENSP000002643184STRING: ENSP00000264318
    GABRA6ENSP000002745454STRING: ENSP00000274545
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001662behavioral fear response IEA--
    GO:0006810transport TAS1321750
    GO:0006811ion transport ----
    GO:0006821chloride transport ----
    GO:0007165signal transduction TAS1321750

    GABRA5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GABRA5 for compounds           About GeneDecksing

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

    Compounds for GABRA5 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 GABRA5    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    Gamma-Aminobutyric acid3-Carboxypropylamine (see all 27)56-12-2--

    10/45 DrugBank Compounds for GABRA5 (see all 45)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Flunitrazepam-- 1622-62-4targetpotentiator17139284 20858465 17016423 20638393
    Zopiclone(+-)-zopiclone (see all 4)43200-80-2targetpotentiator20303942 19942638 18973287 6135616
    Diazepam-- 439-14-5targetpotentiator18384456 11752090 15009644
    Lorazepam(+/-)-Lorazepam (see all 3)846-49-1targetpotentiator20138190 18384456 11752090
    MethylphenobarbitalMephobarbital (see all 13)115-38-8targetpotentiator10209232 11264449 21194017
    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

    10/38 IUPHAR Ligands for GABRA5 (α5) (see all 38)    About this table 
    LigandTypeActionAffinityPubmed IDs
    piperidine-4-sulphonic acid
    AgonistFull agonist--
    5α-pregnan-3α-ol-20-one
    Allosteric regulatorPotentiation--
    [3H]flunitrazepam
    NoneNone--
    [35S]TBPS
    NoneNone--
    TPA023
    Allosteric regulatorAntagonist--
    [3H]muscimol
    NoneNone--
    isoguvacine
    AgonistFull agonist--
    isonipecotic acid
    AgonistAgonist--
    [11C]flumazenil
    NoneNone--
    α5IA
    Allosteric regulatorInverse agonist--

    1 Novoseek inferred chemical compound relationship for GABRA5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gaba 73.7 17 8136833 (1), 7795644 (1), 7601451 (1), 11543639 (1) (see all 11)

    Search CenterWatch for drugs/clinical trials and news about GABRA5 / GBRA5

    (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,
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    About This Section

    REFSEQ mRNAs for GABRA5 gene (2 alternative transcripts): 
    NM_000810.3  NM_001165037.1  

    Unigene Cluster for GABRA5:

    Gamma-aminobutyric acid (GABA) A receptor, alpha 5
    Hs.24969  [show with all ESTs]
    Unigene Representative Sequence: AK126891
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000335625(uc001zbd.2) ENST00000355395 ENST00000555182 ENST00000557484
    ENST00000554038 ENST00000554596 ENST00000557449 ENST00000555060 ENST00000554599
    ENST00000554083 ENST00000400081(uc021sgi.1)
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    Additional mRNA sequence: 

    AK124673.1 AK126891.1 AK290453.1 AK294303.1 AK303742.1 BC011403.1 BC111979.1 BC113422.1 
    BT009830.1 L08485.1 

    4 DOTS entries:

    DT.108991  DT.91659917  DT.101977357  DT.121034570 

    22 AceView cDNA sequences:

    F03181 AL119253 BM719912 BM676770 AK124673 BI552302 F07441 F06915 
    BU738949 F03669 AL035783 AK126891 AI807646 BF966961 F07440 L08485 
    BC011403 BT009830 NM_000810 R35346 R49008 T28792 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for GABRA5 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for GABRA5

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GABRA5 expression in normal human tissues (normalized intensities)      GABRA5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGGACTTA
    GABRA5 Expression
    About this image


    GABRA5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Amygdala
             entorhinal cortex   
     
     Epidermis (Integumentary System)
             Detroit 551
     
     Inner Cell Mass (Early Embryonic Tissues)
             Line H9 (WA09)
     
     Fibroblast
             Detroit 551

    See GABRA5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GABRA5

    SOURCE GeneReport for Unigene cluster: Hs.24969
        SABiosciences Expression via Pathway-Focused PCR Arrays including GABRA5: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat
              Synaptic Plasticity 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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for GABRA5 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gabra51 , 5 gamma-aminobutyric acid (GABA) A receptor, subunit more1, 5 87.66(n)1
    95.45(a)1
      7 (33.52 cM)5
    1108861  NM_176942.41  NP_795916.11 
     574076905 
    chicken
    (Gallus gallus)
    Aves GABRA51 gamma-aminobutyric acid (GABA) A receptor, alpha 5 79.8(n)
    89.39(a)
      418684  XM_416880.3  XP_416880.2 
    lizard
    (Anolis carolinensis)
    Reptilia GABRA56
    gamma-aminobutyric acid (GABA) A receptor, alpha 5...
    89(a)
    1 ↔ 1
    3(110466409-110565340)
    zebrafish
    (Danio rerio)
    Actinopterygii gabra51 gamma-aminobutyric acid (GABA) A receptor, alpha 5 72.58(n)
    80.45(a)
      799124  XM_001339475.3  XP_001339511.2 


    ENSEMBL Gene Tree for GABRA5 (if available)
    TreeFam Gene Tree for GABRA5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GABRA5 gene
    GABRG22  GABRE2  GABRA22  GABRA62  GABRA42  GABRG12  GABRG32  GABRA32  
    GABRA12  
    18/23 SIMAP similar genes for GABRA5 using alignment to 8 protein entries:     GBRA5_HUMAN (see all proteins) (see all similar genes):
    GABRA3    GABRA2    GABRA1    GABRA4    GABRA6    GABRG2
    GABRG3    GABRE    GABRP    GABRB3    GABRG1    GABRB1
    GLRA4    GLRA2    GABRR1    GLRA3    GLRA1    GABRB2

    GABRA5 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1760 SNPs in GABRA5 are shown (see all 1760)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1449725911,2
    C--7103504(+) ACGCAA/GACACA 1 -- us2k10--------
    rs1172957811,2
    F--7103519(+) CTGTCT/CCAGTT 1 -- us2k11Minor allele frequency- C:0.03NA 120
    rs1855534421,2
    --7103530(+) CCTGCC/TCCTGA 1 -- us2k10--------
    rs1474551241,2
    --7103578(+) TACTCA/TTGGCC 1 -- us2k10--------
    rs1392594491,2
    --7103628(+) GAAATA/GAAATT 1 -- us2k10--------
    rs71702311,2
    C,F--7103638(+) TCTTAT/AGAAGC 1 -- us2k19Minor allele frequency- A:0.44NA WA CSA EA 369
    rs1904151061,2
    --7103642(+) ATGAAA/GCCCGG 1 -- us2k10--------
    rs1834264641,2
    --7103643(+) TGAAGA/CCCGGG 1 -- us2k10--------
    rs71702371,2
    C,F,A--7103656(+) AAGGCT/CGAGGT 1 -- us2k19Minor allele frequency- C:0.43NA WA CSA EA 369
    rs1870921061,2
    --7103694(+) TCTTCC/TACAAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GABRA5 (27111510 - 27194357 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for GABRA5:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2749488CNV Deletion23290073
    esv2668795CNV Deletion23128226
    esv2749487CNV Deletion23290073
    esv23657CNV Loss19812545
    nsv903729CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 137142    OMIM disorders: --

    20 diseases for GABRA5:    About MalaCards
    childhood absence epilepsy    focal epilepsy    angelman syndrome    migraine with aura
    autistic disorder    oculocutaneous albinism    prader-willi syndrome    bipolar i disorder
    febrile seizures    bipolar disorder    albinism    migraine
    temporal lobe epilepsy    autism spectrum disorder    alcohol dependence    anorexia nervosa
    alcoholism    mental retardation    schizophrenia    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for GABRA5:
    Angelman syndrome     Prader-Willi syndrome     Autistic disorder

    GABRA5 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for GABRA5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    angelman syndrome 82.5 1 11543639 (1)
    childhood absence epilepsy 73.7 1 15498372 (1)
    autistic 59.4 1 12092907 (1)
    prader-willi syndrome 56.3 1 8388764 (1)
    bipolar disorder 40 1 15882799 (1)

    Genetic Association Database (GAD): GABRA5
    Human Genome Epidemiology (HuGE) Navigator: GABRA5 (20 documents)

    Export disorders for GABRA5 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)
    About This Section

    PubMed articles for GABRA5 gene, integrated from 9 sources (see all 83):
    (articles sorted by number of sources associating them with GABRA5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and expression of a cDNA encoding the human GABA-A receptor alpha 5 subunit. (PubMed id 1321750)1, 2, 3 Wingrove P....Whiting P. (1992)
    2. Human gamma-aminobutyric acid-type A receptor alpha5 subunit gene (GABRA5): characterization and structural organization of the 5' flanking region. (PubMed id 9205108)1, 2, 9 Kim Y.... Lalande M. (1997)
    3. The GABA type A receptor alpha5 subunit gene is associated with bipolar I disorder. (PubMed id 15882799)1, 4, 9 Otani K....Kuroda S. (2005)
    4. FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions. (PubMed id 8388764)1, 2, 9 Knoll J.H.... Lalande M. (1993)
    5. An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder. (PubMed id 16674551)1, 4, 9 Ashley-Koch A.E....Pericak-Vance M.A. (2006)
    6. Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064)1, 4 Pinheiro A.P....Woodside D.B. (2010)
    7. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    8. Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population. (PubMed id 19328558)1, 4 Yosifova A....Nakamura Y. (2009)
    9. Recurrent rearrangements in synaptic and neurodevelop mental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. (PubMed id 19736351)1, 4 Guilmatre A....Campion D. (2009)
    10. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)1, 4 de Krom M....van Ree J.M. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 2558 HGNC: 4079 AceView: GABRA5 Ensembl:ENSG00000186297 euGenes: HUgn2558
    ECgene: GABRA5 Kegg: 2558 H-InvDB: GABRA5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GABRA5 Pharmacogenomics, SNPs, Pathways
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt056.shtml

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GABRA5 gene:
    Search GeneIP for patents involving GABRA5

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



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    About This Section

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