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GABRG2 Gene

protein-coding   GIFtS: 68
GCID: GC05P161494

Gamma-Aminobutyric Acid (GABA) A Receptor, Gamma 2

  See GABRG2-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, Gamma 21 2     GABA(A) Receptor1
GABA(A) Receptor Subunit Gamma-22 3     Gamma 21
CAE22 5     GABA(A) Receptor, Gamma 22
ECA22 5     Gamma-Aminobutyric Acid Receptor Subunit Gamma-22
GEFSP32 5     

External Ids:    HGNC: 40871   Entrez Gene: 25662   Ensembl: ENSG000001133277   OMIM: 1371645   UniProtKB: P185073   

Export aliases for GABRG2 gene to outside databases

Previous GC identifers: GC05P161612 GC05P162002 GC05P161430 GC05P161475 GC05P161427 GC05P156587


(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 GABRG2 Gene:
This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the
mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are
pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in
this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding
different isoforms have been identified for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for GABRG2 Gene:
GABRG2 (gamma-aminobutyric acid (GABA) A receptor, gamma 2) is a protein-coding gene. Diseases associated with GABRG2 include epilepsy, generalized, with febrile seizures plus, type 3, and gabrg2-related generalized epilepsy with febrile seizures plus. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRE.

UniProtKB/Swiss-Prot: GBRG2_HUMAN, P18507
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 GABRG2 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 GABRG2 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 GABRG2 gene promoter:
         TBP   FOXO4   NRSF form 1   Lmo2   AP-4   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGABRG2 promoter sequence
   Search Chromatin IP Primers for GABRG2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GABRG2


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

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

GABRG2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GABRG2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P161494:  view genomic region     (about GC identifiers)

Start:
161,494,546 bp from pter      End:
161,582,545 bp from pter
Size:
88,000 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: GBRG2_HUMAN, P18507 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor subunit gamma-2 precursor  
Size: 467 amino acids; 54162 Da
Subunit: Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and
rho. Interacts with GABARAP
Miscellaneous: This subunit carries the benzodiazepine binding site
Secondary accessions: F5HB82 Q6GRL6 Q6PCC3 Q9UDB3 Q9UN15
Alternative splicing: 3 isoforms:  P18507-1   P18507-2   P18507-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GABRG2: NX_P18507

Explore proteomics data for GABRG2 at MOPED

Post-translational modifications: 

  • Palmitoylated by ZDHHC3/GODZ; which may affect presynaptic clustering and/or cell surface stability (By
    similarity)1
  • Glycosylation2 at Asn52, Asn129, Asn247
  • Modification sites at PhosphoSitePlus

  • See GABRG2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000807.2  NP_944493.2  NP_944494.1  

    ENSEMBL proteins: 
     ENSP00000349000   ENSP00000410732   ENSP00000354651   ENSP00000430732   ENSP00000430124  
     ENSP00000430182   ENSP00000377510  
    Reactome Protein details: P18507

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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: gamma2
    GABAA receptors

    Selected InterPro protein domains (see all 7):
     IPR005437 GABBAg_rcpt
     IPR005439 GABBAg2_rcpt
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006028 GABAA_rcpt
     IPR006201 Neur_channel

    Graphical View of Domain Structure for InterPro Entry P18507

    ProtoNet protein and cluster: P18507

    4 Blocks protein domains:
    IPB005437 Gamma-aminobutyric-acid A receptor gamma subunit signature
    IPB005439 Gamma-aminobutyric-acid A receptor gamma 2 subunit signature
    IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
    IPB006201 Neurotransmitter-gated ion-channel


    UniProtKB/Swiss-Prot: GBRG2_HUMAN, P18507
    Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC
    1.A.9.5) subfamily. GABRG2 sub-subfamily


    Find genes that share domains with GABRG2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: GBRG2_HUMAN, P18507
    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 GABRG2:
    gamma-aminobutyric acid (GABA) A receptor,ionotropic,gamma 2subunit,component of a pentameric receptor mediating
    inhibitory neurotransmission,complexing with DRD5 and promoting mutually inhibitory functional interactions
    between these receptor systems,putatively involved in the physiological dependance on alcohol,and in the
    maintenance of psychomotor disease states

         Gene Ontology (GO): 5 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:0005515protein binding IPI9892355
    GO:0008503benzodiazepine receptor activity TAS2538761
         
    Find genes that share ontologies with GABRG2           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 11 alleles(MGI details for Gabrg2):
     behavior/neurological  growth/size/body  homeostasis/metabolism  mortality/aging  nervous system 
     normal  reproductive system 

    Find genes that share phenotypes with GABRG2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GABRG2: Gabrg2tm1Geh Gabrg2tm2.1Geh Gabrg2tm1Lusc

       genOway: Develop your customized and physiologically relevant rodent model for GABRG2

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    SwitchGear 3'UTR luciferase reporter plasmidGABRG2 3' UTR sequence
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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
    GBRG2_HUMAN, P18507: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
    membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS2538761
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----

    Find genes that share ontologies with GABRG2           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 GABRG2 About   (see all 13)  
    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 GABRG2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for GABRG2
        Synaptic Neurotransmission: GABAergic Inhibition

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GABRG2
        Sperm Motility
    Akt Signaling

    1 Tocris Bioscience Pathway for GABRG2
        Akt Pathway

    2 Reactome Pathways for GABRG2
        GABA A receptor activation
    Ligand-gated ion channel transport

    1 PharmGKB Pathway for GABRG2
        Benzodiazepine Pathway, Pharmacodynamics

    5 Kegg Pathways  (Kegg details for GABRG2):
        Neuroactive ligand-receptor interaction
    Retrograde endocannabinoid signaling
    GABAergic synapse
    Morphine addiction
    Nicotine addiction

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABRG2: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GABRG2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for GABRG2 (P185073 ENSP000004107324) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DRD5P219183, ENSP000003061294I2D: score=1 STRING: ENSP00000306129
    PIK3R1P279863, ENSP000002743354I2D: score=1 STRING: ENSP00000274335
    PPP3CAQ082093, ENSP000003783234I2D: score=1 STRING: ENSP00000378323
    GABARAPO951663, ENSP000003068664I2D: score=4 STRING: ENSP00000306866
    GABRA1ENSP000000238974STRING: ENSP00000023897
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS2538761
    GO:0006811ion transport ----
    GO:0006821chloride transport ----
    GO:0007214gamma-aminobutyric acid signaling pathway IEA--
    GO:0007268synaptic transmission TAS--

    Find genes that share ontologies with GABRG2           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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    Compounds for GABRG2 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 GABRG2    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 GABRG2 (see all 24)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Clotiazepam-- 33671-46-4targetpotentiator18604239 10592235 18855614
    FlumazenilFlumazenilo [Spanish] (see all 2)78755-81-4targetantagonist11864636 17974564 8693922
    Lorazepam(+/-)-Lorazepam (see all 3)846-49-1targetpotentiator20138190 18384456 11752090
    Adinazolam-- 37115-32-5targetpotentiator6320036 6148400
    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
    Diazepam-- 439-14-5targetpotentiator18384456 11752090
    Estazolam-- 29975-16-4targetpotentiator639854 2889803

    1 IUPHAR Ligand for GABRG2 (gamma2)    About this table
    LigandTypeActionAffinityPubmed IDs
    TBPS
    Channel blockerNone--

    6 Novoseek inferred chemical compound relationships for GABRG2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gaba 71.1 13 7806498 (1), 18566737 (1), 18458705 (1), 15772696 (1) (see all 12)
    sodium 47.4 10 18566737 (1), 18625863 (1), 19201561 (1), 18458705 (1) (see all 9)
    benzodiazepine 29.5 1 7806498 (1)
    methamphetamine 27.4 7 15772696 (4)
    potassium 5.29 3 16038283 (1), 11579435 (1)
    chloride 4.52 1 16038283 (1)



    Find genes that share compounds with GABRG2           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 GABRG2 gene (3 alternative transcripts): 
    NM_000816.3  NM_198903.2  NM_198904.2  

    Unigene Cluster for GABRG2:

    Gamma-aminobutyric acid (GABA) A receptor, gamma 2
    Hs.7195  [show with all ESTs]
    Unigene Representative Sequence: NM_198903
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356592(uc010jjc.3 uc003lyy.4 uc003lyz.4 uc011dej.2)
    ENST00000414552 ENST00000361925 ENST00000522990 ENST00000523372 ENST00000522053
    ENST00000393933
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    Additional mRNA sequence: 

    AK123394.1 AK299640.1 AK315200.1 BC036030.1 BC052926.1 BC059389.1 BC069348.1 BC074795.2 
    X15376.1 

    7 DOTS entries:

    DT.312422  DT.40114896  DT.101984222  DT.101959107  DT.402980  DT.95106962  DT.120879538 

    Selected AceView cDNA sequences (see all 72):

    CD108432 BX280206 T09226 BM724819 AA318955 BM666264 NM_198904 AV725717 
    BM698428 BC069348 BU736179 BM718397 AA365957 BF221573 NM_000816 BQ716996 
    NM_198903 BC074795 BX642049 AW949419 AK123394 F13483 AA063111 CD013897 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for GABRG2    About this scheme

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


    ECgene alternative splicing isoforms for GABRG2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GABRG2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGACTTTTA
    GABRG2 Expression
    About this image


    GABRG2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 24 entries
             Thalamus
             Septum   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Rod Bipolar Cells Inner Nuclear Layer
             Corneal Stroma
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     NULL (Uncategorized)
             Neural rosettes
     
     Neurons
             Mature Rod Bipolar Cells Inner Nuclear Layer
    GABRG2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GABRG2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.7195
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABRG2: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat

    Primer
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRG2

    (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 GABRG2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gabrg21 , 5 gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2 less1, 5 91(n)1
    99.16(a)1
      11 (24.80 cM)5
    144061  NM_008073.31  NP_032099.11 
     419102035 
    chicken
    (Gallus gallus)
    Aves GABRG21 gamma-aminobutyric acid (GABA) A receptor, gamma 2 80.73(n)
    92.62(a)
      396289  NM_205345.2  NP_990676.1 
    lizard
    (Anolis carolinensis)
    Reptilia GABRG26
    gamma-aminobutyric acid (GABA) A receptor, gamma 2...
    90(a)
    1 ↔ 1
    1(106988706-107073096)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gabrg21 gamma-aminobutyric acid (GABA) A receptor, gamma 2 77.64(n)
    88.82(a)
      779514  XM_002941635.2  XP_002941681.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.277352 Transcribed sequence with weak similarity to protein prf1506443A (H.sapiens) 1506443A GABAa receptor gamma2 [Homo sapiens] less 72.1(n)    57071230 
    fruit fly
    (Drosophila melanogaster)
    Insecta Grd3 glycine-gated ion channel 43(a)
    (best of 2)
      75A4   --
    worm
    (Caenorhabditis elegans)
    Secernentea C39B10.23 gamma-aminobutyric-acid receptor 34(a)
    (best of 3)
      X(10489543-10492552)   --


    ENSEMBL Gene Tree for GABRG2 (if available)
    TreeFam Gene Tree for GABRG2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GABRG2 gene
    GABRE2  GABRA22  GABRG12  GABRA32  GABRA12  GABRA42  GABRA62  GABRG32  
    GABRA52  
    Selected SIMAP similar genes for GABRG2 using alignment to 5 protein entries:     GBRG2_HUMAN (see all proteins) (see all similar genes):
    GABRG3    GABRG1    GABRE    GABRA2    GABRA5    GABRA4
    GABRA3    GABRA6    GABRA1    GABRP    GLRA4    GABRD
    GABRR2    GABRB1    GLRA2    GABRB2    GLRA3    GABRQ

    Find genes that share paralogs with GABRG2           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 GABRG2 (see all 1765)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0386024
    Febrile seizures, familial, 8 (FEB8)4--see VAR_0386022 R G mis40--------
    VAR_0142664
    Generalized epilepsy with febrile seizures plus 3 (GEFS+3)4--see VAR_0142662 K M mis40--------
    rs289330701,2,4
    Febrile seizures, familial, 8 (FEB8)4--see VAR_0142652 mis40--------
    rs358676761,2
    C--156590479(+) ACTTC-/AATAATCT 3 -- cds10--------
    rs344961391,2
    C--156590480(+) CTTCA-/AATATCTT 3 -- cds10--------
    rs715871771,2
    C--156590483(+) TCAATAAT/-CTTTT 3 -- cds11Minor allele frequency- -:0.50NA 2
    rs106447421,2
    C--156624360(+) ATTTATTTTA/
            
    AGACA
    3 -- int11Minor allele frequency- -:0.00NA 2
    rs591484731,2
    C--156626517(+) TTGGGC/G/TGGGGG 3 -- int11NA 2
    rs1462726671,2
    C--156637822(+) GTGTG-/TCTGTAA 3 -- int10--------
    rs356498721,2
    C--156662477(+) AAAAAAA/-GATTT 3 -- int11Minor allele frequency- -:0.50NA 2

    HapMap Linkage Disequilibrium report for GABRG2 (161494546 - 161582545 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for GABRG2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2660260CNV Deletion23128226
    esv2664892CNV Deletion23128226
    esv2667841CNV Deletion23128226
    nsv883078CNV Loss21882294
    dgv6366n71CNV Loss21882294
    nsv883074CNV Loss21882294
    esv22373CNV Loss19812545

    Human Gene Mutation Database (HGMD): GABRG2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GABRG2
    DNA2.0 Custom Variant and Variant Library Synthesis for GABRG2

    (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: 137164   
    OMIM disorders: 611277  607681  
    UniProtKB/Swiss-Prot: GBRG2_HUMAN, P18507
  • Epilepsy, childhood absence 2 (ECA2) [MIM:607681]: A subtype of idiopathic generalized epilepsy
    characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral,
    synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Some
    individuals manifest febrile seizures. Absence seizures may either remit or persist into adulthood. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry
  • Febrile seizures, familial, 8 (FEB8) [MIM:611277]: Seizures associated with febrile episodes in childhood
    without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common
    condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures
    (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex
    febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure
    in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex
    febrile seizures are associated with a moderately increased incidence of epilepsy. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Generalized epilepsy with febrile seizures plus 3 (GEFS+3) [MIM:611277]: A rare autosomal dominant,
    familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile
    seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease
    combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial
    seizures, with a variable degree of severity. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]: A rare disorder characterized by generalized
    tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of
    life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex
    partial seizures. Psychomotor development delay is observed around the second year of life. Some patients
    manifest a borderline disease phenotype and do not necessarily fulfill all diagnostic criteria for core SMEI.
    SMEI is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile
    seizures-plus. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 13 diseases for GABRG2:    
    About MalaCards
    epilepsy, generalized, with febrile seizures plus, type 3    gabrg2-related generalized epilepsy with febrile seizures plus    psychomotor disease    febrile seizures
    gabrg2-related dravet syndrome    febrile seizures, familial, 8    epilepsy, childhood absence, susceptibility to, 2    myoclonic epilepsy of infancy
    dravet syndrome    generalized epilepsy with febrile seizures plus    childhood absence epilepsy    juvenile absence epilepsy
    hyperekplexia

    3 diseases from the University of Copenhagen DISEASES database for GABRG2:
    Idiopathic generalized epilepsy     Dravet Syndrome     Juvenile absence epilepsy

    Find genes that share disorders with GABRG2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for GABRG2 gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epilepsy generalized 92.7 17 19065515 (2), 14738422 (2), 20308251 (1), 12759178 (1) (see all 13)
    seizures febrile 91.7 27 12759178 (2), 19065515 (2), 16924025 (2), 14738422 (2) (see all 19)
    dravet syndrome 87.8 3 20308251 (1), 12773292 (1), 19783390 (1)
    childhood absence epilepsy 87.2 8 20308251 (1), 12759178 (1), 12672902 (1), 16924025 (1) (see all 6)
    epilepsies myoclonic 81.9 4 20308251 (1), 12694927 (1), 17008177 (1)
    myoclonic epilepsy juvenile 70.6 5 20308251 (1), 17008177 (1), 16302874 (1), 8739126 (1)
    familial benign neonatal convulsions 69.7 1 11579435 (1)
    epilepsy, idiopathic generalized 68.8 1 17162195 (1)
    epilepsy 66.8 15 16806831 (3), 15955415 (1), 18175077 (1), 20308251 (1) (see all 11)
    epilepsy frontal lobe 65.4 3 17008177 (1), 11579435 (1)

    Genetic Association Database (GAD): GABRG2
    Human Genome Epidemiology (HuGE) Navigator: GABRG2 (39 documents)

    Export disorders for GABRG2 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 GABRG2 gene, integrated from 10 sources (see all 165):
    (articles sorted by number of sources associating them with GABRG2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies. (PubMed id 20485450)1, 2, 4 Shi X.... Hirose S. (J. Hum. Genet. 2010)
    2. Haplotype association between GABAA receptor gamma2 subunit gene (GABRG2) and methamphetamine use disorder. (PubMed id 15772696)1, 4, 9 Nishiyama T....Ozaki N. (Pharmacogenomics J. 2005)
    3. Mutation screen of GABRA1, GABRB2 and GABRG2 genes in Japanese patients with absence seizures. (PubMed id 15955415)1, 4, 9 Ito M....Ohtsuka Y. (Neurosci. Lett. 2005)
    4. Association analysis of gamma 2 subunit of gamma- aminobutyric acid type A receptor polymorphisms with febrile seizures. (PubMed id 12672902)1, 4, 9 Chou I.C....Tsai C.H. (Pediatr. Res. 2003)
    5. Failure to find causal mutations in the GABA(A)-receptor gamma2 subunit (GABRG2) gene in Japanese febrile seizure patients. (PubMed id 12759178)1, 4, 9 Nakayama J....Arinami T. (Neurosci. Lett. 2003)
    6. No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy. (PubMed id 12694927)1, 4, 9 Madia F....Zara F. (Epilepsy Res. 2003)
    7. Complete genomic sequence of 195 Kb of human DNA containing the gene GABRG2. (PubMed id 11328646)1, 2, 9 Jiang S.... Yang H. (DNA Seq. 2000)
    8. Association analysis of GABAAbeta2 and gamma2 gene polymorphisms with event-related prefrontal activity in man. (PubMed id 11140951)1, 4, 9 Winterer G....Sander T. (Hum. Genet. 2000)
    9. Screening of GABA(A)-receptor gene mutations in primary dystonia. (PubMed id 17880575)1, 4, 9 Shang H....Kaelin-Lang A. (Eur. J. Neurol. 2007)
    10. Examining the role of common genetic variation in the gamma2 subunit of the GABA(A) receptor in epilepsy using tagging SNPs. (PubMed id 16806831)1, 4, 9 Kinirons P....Doherty C.P. (Epilepsy Res. 2006)

    (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: 2566 HGNC: 4087 AceView: GABRG2 Ensembl:ENSG00000113327 euGenes: HUgn2566
    ECgene: GABRG2 Kegg: 2566 H-InvDB: GABRG2

    (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 GABRG2 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 GABRG2 gene:
    Search GeneIP for patents involving GABRG2

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



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