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

GABRA2 Gene

protein-coding   GIFtS: 67
GCID: GC04M046167

gamma-aminobutyric acid (GABA) A receptor, alpha 2
 Explore 17 diseases affiliated with
GABRA2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GABRA2    

Aliases
for GABRA2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 21 2
GABA(A) Receptor Subunit Alpha-22 3
GABA(A) Receptor, Alpha 22
Gamma-Aminobutyric Acid Receptor Subunit Alpha-22

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

Export aliases for GABRA2 gene to outside databases

Previous GC identifers: GC04M046323 GC04M046561 GC04M046101 GC04M046092 GC04M045946 GC04M045569


Summaries
for GABRA2 gene

(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 GABRA2:
GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are
ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as
benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been
identified. Alternatively spliced transcript variants encoding the same protein have been found for this gene.
(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: GBRA2_HUMAN, P47869
Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding
to the GABA/benzodiazepine receptor and opening an integral chloride channel

summary for GABRA2:
GABAA receptors are members of the cys-loop family of ligand-gated ion channels, responsible for mediating
the inhibitory effects of GABA alongside GABAB and GABAC receptors. They are pentameric proteins, consisting
of 5 subunits belonging to different families (alpha1-6, beta1-3, gamma1-3, delta, pi, epsilon, rho, theta).
The most abundant GABAA receptor in the mammalian brain consist of two copies each of alpha1 and beta2 with
a single gamma2 subunits. GABAA receptors contain an integral chloride channel, and have modulatory sites
for benzodiazepines, barbiturates, neurosteroids and ethanol.

Gene Wiki entry for GABRA2


Genomic Views
for GABRA2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_006238.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GABRA2 gene promoter:
         Nkx6-1   p53   Pax-2   Pax-2a   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GABRA2 promoter sequence
   Search SABiosciences Chromatin IP Primers for GABRA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GABRA2


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

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

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

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

Start:
 46,250,444 bp from pter      End:
 46,477,247 bp from pter
Size:
 226,804 bases      Orientation:
 minus strand

Proteins
for GABRA2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: GBRA2_HUMAN, P47869 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor subunit alpha-2 precursor  
Size: 451 amino acids; 51326 Da
Subunit: Binds UBQLN1 (By similarity). Generally pentameric. There are five types of GABA(A) receptor chains: alpha,
beta, gamma, delta, and rho
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane;
Multi-pass membrane protein
Sequence caution: Sequence=BAD92532.1; Type=Erroneous initiation;
Secondary accessions: Q59G14

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P47869

    • GABRA2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000421828   ENSP00000421300   ENSP00000371033   ENSP00000348897   ENSP00000422642  
     ENSP00000427603   ENSP00000421639   ENSP00000423840   ENSP00000425240   ENSP00000425526  
     ENSP00000424362   ENSP00000424093   ENSP00000422805   ENSP00000444409  
    Reactome Protein details: P47869
    Human Recombinant Protein Products: 
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    Novus Biologicals GABRA2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane ----
    GO:0030054cell junction IEA--
    GO:0030285integral to synaptic vesicle membrane IDA8391122
    GO:0030424axon IEA--


    GABRA2 for ontologies           About GeneDecksing



    GABRA2 Antibody Products: 
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    ThermoFisher Antibody for GABRA2

    Assay Products for GABRA2: 
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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for GABRA2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GABRA2 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR001390 GABAAa_rcpt
     IPR005432 GABBAa2_rcpt
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006028 GABAA_rcpt
     IPR006201 Neur_channel

    Graphical View of Domain Structure for InterPro Entry P47869

    ProtoNet protein and cluster: P47869

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


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


    Function
    for GABRA2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: GBRA2_HUMAN, P47869
    Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding
    to the GABA/benzodiazepine receptor and opening an integral chloride channel

         Genatlas biochemistry entry for GABRA2:
    gamma-aminobutyric acid (GABA) A receptor,ionotropic,alpha 2,subunit,component of a pentameric receptor mediating
    inhibitory neurotransmission

    miRNA
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    hsa-miR-374b* hsa-miR-3671 hsa-miR-607 hsa-miR-548p hsa-miR-105 hsa-miR-4274 hsa-miR-591 hsa-miR-493*
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    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GABRA2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for GABRA2

    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for GABRA2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRA2

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004890GABA-A receptor activity IEA--
    GO:0005230extracellular ligand-gated ion channel activity IEA--
    GO:0005254chloride channel activity IEA--
    GO:0008503benzodiazepine receptor activity IMP8391122


    GABRA2 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for GABRA2: Gabra2tm1.1Geh Gabra2tm2.2Uru Gabra2tm1Dns
         6 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Gabra2):
     behavior/neurological  homeostasis/metabolism  integument  mortality/aging  nervous system 
     no phenotypic analysis 

    GABRA2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for GABRA2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1GABA A receptor activation
    		GABA A receptor activation1.00
    		Synaptic Neurotransmission: GABAergic Inhibition0.45
    		Ligand-gated ion channel transport0.48
    		GABA signaling in brain0.26
    2Transmission across Chemical Synapses
    		Transmission across Chemical Synapses1.00
    		Neuronal System0.67
    		Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    3Ion channel transport
    		Ion channel transport1.00
    4Akt Signaling
    		Akt Signaling1.00
    5Activation of GABAB receptors
    		GABA receptor activation0.72

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for GABRA2
        GABA signaling in brain

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

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

    1 Tocris Bioscience Pathway for GABRA2
        Akt Pathway

    5/8        Reactome Pathways for GABRA2 (see all 8)
        GABA A receptor activation
    Ligand-gated ion channel transport
    Transmission across Chemical Synapses
    Ion channel transport
    Neuronal System


    1         Kegg Pathway  (Kegg details for GABRA2):
        Neuroactive ligand-receptor interaction


    GABRA2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GABRA2

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

    5/13 Interacting proteins for GABRA2 (P478693 ENSP000003488974) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MDM2Q009873I2D: score=1 
    GABRA1ENSP000000238974STRING: ENSP00000023897
    GABRA3ENSP000003593344STRING: ENSP00000359334
    GABRA4ENSP000002643184STRING: ENSP00000264318
    GABRA5ENSP000003355924STRING: ENSP00000335592
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001505regulation of neurotransmitter levels IMP8391122
    GO:0006811ion transport ----
    GO:0006821chloride transport ----
    GO:0006836neurotransmitter transport IMP8391122
    GO:0007214gamma-aminobutyric acid signaling pathway IMP8391122


    GABRA2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for GABRA2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for GABRA2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    MuscimolPotent GABAA agonist[2763-96-4]
    (+)-BicucullinePotent GABAA antagonist[485-49-4]
    L-655,708 Selective for alpha5-containing GABAA receptors[130477-52-0]
    AA 29504Positive allosteric modulator of GABAA receptors[945828-50-2]
    SR 95531 hydrobromide Selective, competitive GABAA receptor antagonist [104104-50-9]

    2 HMDB Compounds for GABRA2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    Gamma-Aminobutyric acid3-Carboxypropylamine (see all 27)56-12-2--

    10/47 DrugBank Compounds for GABRA2 (see all 47)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    FlumazenilFlumazenilo [Spanish] (see all 2)78755-81-4target--17306436 19907641 18788841 17368613 19411525 18175099
    Flunitrazepam-- 1622-62-4targetpotentiator17139284 20858465 17016423 2570451 17976880 20638393
    Diazepam-- 439-14-5targetpotentiator18384456 11752090 15009644
    Lorazepam(+/-)-Lorazepam (see all 3)846-49-1targetpotentiator20138190 18384456 11752090
    MethylphenobarbitalMephobarbital (see all 13)115-38-8targetpotentiator10209232 11264449 21194017
    Quinidine barbiturate-- --targetpotentiator10209232 11264449 15169831
    Zopiclone(+-)-zopiclone (see all 4)43200-80-2targetpotentiator20303942 19942638 18973287
    Adinazolam-- 37115-32-5targetpotentiator6320036 6148400
    Amobarbital-- 57-43-2targetpotentiator10209232 11264449
    Aprobarbital-- 77-02-1targetpotentiator10209232 11264449

    Search CenterWatch for drugs/clinical trials and news about GABRA2 / GBRA2 

    Transcripts
    for GABRA2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for GABRA2 gene (2 alternative transcripts): 
    NM_000807.2  NM_001114175.1  

    Unigene Cluster for GABRA2:

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

    miRNA
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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

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

    9 DOTS entries:

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

    24/37 AceView cDNA sequences (see all 37):

    R39763 AI634558 AK125179 AL134748 CD014110 CD014114 NM_000807 CD014117 
    AW043891 CD014111 CD014115 AI801878 CD014113 S62907 BC022488 CD014112 
    CD014109 CD014108 BF594289 BI757084 CD014107 BG699503 T65530 BV198948 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for GABRA2 (see all 14)    About this scheme

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


    ECgene alternative splicing isoforms for GABRA2

    Expression
    for GABRA2 gene

    (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

    GABRA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAATAAATAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    GABRA2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural TubeTelencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See GABRA2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GABRA2

    SOURCE GeneReport for Unigene cluster: Hs.116250
        SABiosciences Expression via Pathway-Focused PCR Arrays including GABRA2: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat

    Primer
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    Orthologs
    for GABRA2 gene

    (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 animals.

    Orthologs for GABRA2 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves GABRA21 gamma-aminobutyric acid (GABA) A receptor, alpha 2 83.67(n)
    93.65(a)    		   770511  XM_001233849.1  XP_001233850.1 
    lizard
    (Anolis carolinensis)    		 Reptilia GABRA26
    		 --
    		 91(a)
    		 1 ↔ 1
    		 5(103032228-103058882)
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC1001507041 gamma-aminobutyric acid receptor subunit alpha-2-like 74.53(n)
    89.29(a)    		   100150704  XM_001920056.2  XP_001920091.2 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Grd3 glycine-gated ion channel 47(a)   75A4   --
    worm
    (Caenorhabditis elegans)    		 Secernentea glc-43 ligand-gated ionic channel 34(a)
    (best of 4)    		   II(7172288-7175030)   --


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

    Paralogs
    for GABRA2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GABRA2 gene
    GABRE2  GABRG12  GABRA32  GABRA12  GABRG22  GABRA62  GABRA42  GABRA52  
    GABRG32  
    18/24 SIMAP similar genes for GABRA2 using alignment to 13 protein entries:     GBRA2_HUMAN (see all proteins) (see all similar genes):
    GABRA5    GABRA1    GABRA3    GABRA4    GABRA6    GABRG2
    GABRG3    GABRB1    GABRE    GABRG1    GABRP    GABRB3
    GLRA4    GABRD    GLRA2    GABRB2    GLRA1    DKFZp781L0846

    GABRA2 for paralogs           About GeneDecksing



    Genomic Variants
    for GABRA2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

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


    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for GABRA2
         1 CNV: 98703

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    Disorders / Diseases
    for GABRA2 gene

    (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.)
    About This Section
    GABRA2 for disorders           About GeneDecksing

    OMIM gene information: 137140   
    OMIM disorders: 103780  
    17 diseases for GABRA2:    About MalaCards
    alcohol withdrawal delirium    nicotine dependence    cocaine dependence    drug dependence
    anorexia nervosa    wolfram syndrome    schizoaffective disorder    alcoholism
    alcohol dependence    conduct disorder    bipolar disorder    twinning
    obesity    cholesterol    schizophrenia    neuronitis
    nicotine addiction

    3 diseases from the University of Copenhagen DISEASES database for GABRA2:
    Alcohol dependence     Cannabis dependence     Conduct disorder
    Genetic Association Database (GAD): GABRA2
    Human Genome Epidemiology (HuGE) Navigator: GABRA2 (42 documents)

    Export disorders for GABRA2 gene to outside databases

    Publications
    for GABRA2 gene

    (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 GABRA2 gene, integrated from 9 sources (see all 111):
    (articles sorted by number of sources associating them with GABRA2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Variations in GABRA2, encoding the alpha 2 subunit of the GABA(A) receptor, are associated with alcohol dependence and with brain oscillations. (PubMed id 15024690)1, 2, 4 Edenberg H.J.... Begleiter H. (2004)
    2. Confirmation of association of the GABRA2 gene with alcohol dependence by subtype-specific analysis. (PubMed id 16395124)1, 4 Fehr C....Szegedi A. (2006)
    3. Association between alcoholism and gamma-amino butyric acid alpha2 receptor subtype in a Russian population. (PubMed id 15834213)1, 4 Lappalainen J....Gelernter J. (2005)
    4. GABRA2 alleles moderate the subjective effects of alcohol, which are attenuated by finasteride. (PubMed id 15702134)1, 4 Pierucci-Lagha A....Kranzler H.R. (2005)
    5. Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. (PubMed id 16080114)1, 4 Ma D.Q....Pericak-Vance M.A. (2005)
    6. Allelic and haplotypic association of GABRA2 with alcohol dependence. (PubMed id 15274050)1, 4 Covault J....Kranzler H.R. (2004)
    7. Cloning of cDNA sequences encoding human alpha 2 and alpha 3 gamma- aminobutyric acidA receptor subunits and characterization of the benzodiazepine pharmacology of recombinant alpha 1-, alpha 2-, alpha 3-, and alpha 5-containing human gamma-aminobutyric acidA receptors. (PubMed id 8391122)1, 2 Hadingham K.L.... Whiting P.J. (1993)
    8. GABA-A2 receptor subunit gene (GABRA2) polymorphisms and risk for alcohol dependence. (PubMed id 17207817)1, 9 Soyka M....Bondy B. (2008)
    9. Impulsiveness and insula activation during reward anti cipation are associated with genetic variants in GABRA2 in a family sample enric hed for alcoholism. (PubMed id 21483437)1 Villafuerte S....Burmeister M. (2012)
    10. Genetic association of GABA-A receptor alpha-2 and mu opioid receptor with cocaine cue-reactivity: evidence for inhibitory synaptic ne urotransmission involvement in cocaine dependence. (PubMed id 22882391)1 Smelson D....Ziedonis D. (2012)

    External Searches for GABRA2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing GABRA2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2555 HGNC: 4076 AceView: GABRA2 Ensembl:ENSG00000151834 euGenes: HUgn2555
    ECgene: GABRA2 Kegg: 2555 H-InvDB: GABRA2

    Other Databases showing GABRA2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GABRA2 gene

    (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 GABRA2 Pharmacogenomics, SNPs, Pathways
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt056.shtml

    Intellectual Property
    for GABRA2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for GABRA2 gene:
    Search GeneIP for patents involving GABRA2

    GeneCards and IP:
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