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GABRD Gene

protein-coding   GIFtS: 66
GCID: GC01P001950

Gamma-Aminobutyric Acid (GABA) A Receptor, Delta

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Gamma-Aminobutyric Acid (GABA) A Receptor, Delta1 2     delta1
GABA(A) Receptor Subunit Delta2 3     GABA(A) Receptor1
EIG102 5     GABA(A) Receptor, Delta2
EJM72 5     GABA-A Receptor, Delta Polypeptide2
GEFSP52 5     Gamma-Aminobutyric Acid Receptor Subunit Delta2

External Ids:    HGNC: 40841   Entrez Gene: 25632   Ensembl: ENSG000001877307   OMIM: 1371635   UniProtKB: O147643   

Export aliases for GABRD gene to outside databases

Previous GC identifers: GC01P001512 GC01P001913 GC01P9L0120 GC00M9Y0062 GC01P001234


(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 GABRD Gene:
Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at
GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be
modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally
pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta
subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile
seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their
biological validity has not been determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for GABRD Gene:
GABRD (gamma-aminobutyric acid (GABA) A receptor, delta) is a protein-coding gene. Diseases associated with GABRD include epilepsy, generalized, with febrile seizures plus, type 5, and 1p36 deletion syndrome. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GLRA2.

UniProtKB/Swiss-Prot: GBRD_HUMAN, O14764
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 GABRD 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 GABRD Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the GABRD gene promoter:
         Egr-3   AREB6   NF-1/L   NF-1   NF-AT4   NRSF form 1   NRSF form 2   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGABRD promoter sequence
   Search Chromatin IP Primers for GABRD

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


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

Entrez Gene cytogenetic band: 1p36.3   Ensembl cytogenetic band:  1p36.33   HGNC cytogenetic band: 1p36.3

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P001950:  view genomic region     (about GC identifiers)

Start:
1,950,768 bp from pter      End:
1,962,192 bp from pter
Size:
11,425 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GBRD_HUMAN, O14764 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor subunit delta precursor  
Size: 452 amino acids; 50708 Da
Subunit: Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho
Secondary accessions: Q8N4N9

Explore the universe of human proteins at neXtProt for GABRD: NX_O14764

Explore proteomics data for GABRD at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_000806.2  
    ENSEMBL proteins: 
     ENSP00000367848  

    GABRD Human Recombinant Protein Products:

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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: delta
    GABAA receptors

    Selected InterPro protein domains (see all 6):
     IPR008098 GABAAd_rcpt
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006028 GABAA_rcpt
     IPR006201 Neur_channel
     IPR006202 Neur_chan_lig-bd

    Graphical View of Domain Structure for InterPro Entry O14764

    ProtoNet protein and cluster: O14764

    3 Blocks protein domains:
    IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
    IPB006201 Neurotransmitter-gated ion-channel
    IPB008098 Gamma-aminobutyric-acid A receptor delta subunit signature


    UniProtKB/Swiss-Prot: GBRD_HUMAN, O14764
    Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC
    1.A.9.5) subfamily. GABRD sub-subfamily


    GABRD for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GBRD_HUMAN, O14764
    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 GABRD:
    gamma-aminobutyric acid (GABA) A receptor,ionotropic,delta,subunit,component of a pentameric receptor mediating
    inhibitory neurotransmission

         Gene Ontology (GO): 3 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--
         
    GABRD for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gabrd):
     behavior/neurological  hearing/vestibular/ear  mortality/aging  nervous system  reproductive system 

    GABRD for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gabrdtm1Geh for GABRD

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

    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate GABRD:
    hsa-miR-205* hsa-miR-3649
    SwitchGear 3'UTR luciferase reporter plasmidGABRD 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GABRD

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRD


    (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
    GBRD_HUMAN, O14764: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
    membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular2
    golgi apparatus1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane TAS2176788
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----
    GO:0030054cell junction IEA--
    GO:0034707chloride channel complex IEA--

    GABRD for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GABRD About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1GABA signaling in brain
    Synaptic Neurotransmission: GABAergic Inhibition0.32
    GABA signaling in brain0.32
    2Circadian entrainment
    GABAergic synapse0.53
    Retrograde endocannabinoid signaling0.51
    Morphine addiction0.53
    3Akt Signaling
    Akt Signaling0.60
    4Apoptosis Pathway
    Akt Pathway0.39
    5Sweet Taste Signaling
    Sperm Motility0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

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

    1 Tocris Bioscience Pathway for GABRD
        Akt Pathway



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


    GABRD for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABRD: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat
              Huntington's Disease in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GABRD

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    Selected Interacting proteins for GABRD (O147642, 3 ENSP000003678484) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBQLN1Q9UMX02, 3, ENSP000003655764MINT-66488 I2D: score=5 STRING: ENSP00000365576
    UBQLN4Q9NRR52, 3, ENSP000003572924MINT-2859100 I2D: score=3 STRING: ENSP00000357292
    WNK1Q9H4A33I2D: score=2 
    MDFIQ997503I2D: score=1 
    PLSCR1O151623I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS2176788
    GO:0006811ion transport ----
    GO:0007165signal transduction TAS2176788
    GO:0007268synaptic transmission IEA--

    GABRD for ontologies           About GeneDecksing



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

    Compounds for GABRD 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 GABRD    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 GABRD (see all 23)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    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
    Flurazepam-- 17617-23-1targetpotentiator18384456 11752090
    Halazepam-- 23092-17-3targetpotentiator2867566 6738302

    3 IUPHAR Ligands for GABRD (delta)    About this table
    LigandTypeActionAffinityPubmed IDs
    TBPS
    Channel blockerNone--
    THIP
    AgonistFull agonist--
    picrotoxin
    Channel blockerNone--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GABRD gene: 
    NM_000815.4  

    Unigene Cluster for GABRD:

    Gamma-aminobutyric acid (GABA) A receptor, delta
    Hs.113882  [show with all ESTs]
    Unigene Representative Sequence: NM_000815
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000378585(uc001aip.2)
    miRNA
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    hsa-miR-205* hsa-miR-3649
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    Additional mRNA sequence: 

    AF016917.1 AK290861.1 BC033801.1 

    2 DOTS entries:

    DT.95160910  DT.453178 

    Selected AceView cDNA sequences (see all 35):

    BQ951978 NM_000815 BI829118 BG702804 BM545512 AW004058 AI828107 BC033801 
    R88965 AF016917 BI757337 BI758571 BM547796 BI824761 AA984687 BG037021 
    AW594540 BX279745 BI822807 AU122311 BI757807 BQ067322 AW291520 H51463 

    GeneLoc Exon Structure


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


    GABRD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Medulla Oblongata
     
     Thymus (Hematopoietic System)
             Thymus
     
     Neurons
             Cholinergic Amacrine Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             Cholinergic Amacrine Cells Inner Nuclear Layer
    GABRD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GABRD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.113882
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABRD: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat
              Huntington's Disease in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for GABRD
    OriGene qSTAR qPCR primer pairs in human, mouse for GABRD
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    QuantiFast Probe-based Assays in human, mouse, rat GABRD
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRD

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for GABRD gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gabrd1 , 5 gamma-aminobutyric acid (GABA) A receptor, subunit more1, 5 86.07(n)1
    93.76(a)1
      4 (86.17 cM)5
    144031  NM_008072.21  NP_032098.21 
     1553849805 
    chicken
    (Gallus gallus)
    Aves GABRD1 gamma-aminobutyric acid (GABA) A receptor, delta 75.54(n)
    85.09(a)
      770710  XM_001234040.2  XP_001234041.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    41(a)
    many ↔ many
    3(59425604-59512280)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gabrd1 gamma-aminobutyric acid (GABA) A receptor, delta 67(n)
    74.06(a)
      100488161  XM_002936562.2  XP_002936608.2 
    zebrafish
    (Danio rerio)
    Actinopterygii gabrd1 gamma-aminobutyric acid (GABA) A receptor, delta 74.43(n)
    81.65(a)
      571422  XM_695007.5  XP_700099.5 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GABRD gene
    GLRA22  GABRR12  GLRA12  GLRB2  GABRB12  GABRR32  GLRA42  GABRP2  
    GABRB32  GABRB22  GABRQ2  GLRA32  GABRR22  
    Selected SIMAP similar genes for GABRD using alignment to 1 protein entry:     GBRD_HUMAN(see all similar genes):
    GABRP    GABRQ    GABRR2    GABRR1    GABRA2    DKFZp781L0846
    GABRB1    GABRR3    GLRA4    GABRB3    GABRG2    GABRA4
    GABRB2    GABRG3    GABRE    GLRA1    GLRA2    GLRA3

    GABRD for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GABRD (see all 385)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0431514
    Generalized epilepsy with febrile seizures plus 5 (GEFS+5)4--see VAR_0431512 E A mis40--------
    rs413078461,2,,4
    C,Fother11959699(+) CTACCG/ACTTCA 2 /H /R mis14Minor allele frequency- A:0.02NA EU 5299
    rs44817961,2
    C,F,H--1948805(+) TTGTCC/TCTTAA 1 -- us2k123Minor allele frequency- T:0.22NS EA NA WA CSA 2350
    rs1450296961,2
    --1948871(+) GAAGAA/TAATGG 1 -- us2k10--------
    rs1454046601,2
    C--1948951(+) GATCAA/GCACCA 1 -- us2k10--------
    rs1814457131,2
    --1948979(+) CTCTTC/TGCAGA 1 -- us2k10--------
    rs66768081,2
    C--1949001(+) TTGCGA/CCCATG 1 -- us2k12Minor allele frequency- C:0.00NA 4
    rs1869852481,2
    --1949029(+) AGTTCC/TAAAGC 1 -- us2k10--------
    rs1492281951,2
    C--1949142(+) CTCCTA/CCATTT 1 -- us2k10--------
    rs1918309451,2
    --1949355(+) ACCCCA/GGGAAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GABRD (1950768 - 1962192 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for GABRD:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv870914CNV Loss21882294
    dgv56n71CNV Loss21882294
    nsv834446CNV Loss17160897
    nsv871701CNV Loss21882294
    dgv58n71CNV Loss21882294
    dgv55n71CNV Loss21882294
    dgv57n71CNV Loss21882294
    dgv9e1CNV Complex17122850

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 137163   
    OMIM disorders: 613060  
    UniProtKB/Swiss-Prot: GBRD_HUMAN, O14764
  • Generalized epilepsy with febrile seizures plus 5 (GEFS+5) [MIM:613060]: 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=Disease susceptibility is associated with variations affecting
    the gene represented in this entry
  • Epilepsy, idiopathic generalized 10 (EIG10) [MIM:613060]: A disorder characterized by recurring
    generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized
    seizures arise diffusely and simultaneously from both hemispheres of the brain. Note=Disease susceptibility is
    associated with variations affecting the gene represented in this entry
  • Juvenile myoclonic epilepsy 7 (EJM7) [MIM:613060]: A subtype of idiopathic generalized epilepsy. Patients
    have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which
    usually occur after awakening and are triggered by sleep deprivation and fatigue. Note=Disease susceptibility is
    associated with variations affecting the gene represented in this entry

  • Selected diseases for GABRD (see all 22):    
    About MalaCards
    epilepsy, generalized, with febrile seizures plus, type 5    1p36 deletion syndrome    gabrd-related generalized epilepsy with febrile seizures plus    juvenile myoclonic epilepsy
    epilepsy, idiopathic generalized, 10    gabrd-related juvenile myoclonic epilepsy    epilepsy, generalized, with febrile seizures plus, type 3    focal epilepsy
    generalized epilepsy with febrile seizures plus    febrile seizures    epilepsy, juvenile myoclonic 8    dravet syndrome
    idiopathic generalized epilepsy    nicotine addiction    intellectual disability    mood disorder
    huntington's disease    schizophrenia    ataxia    multiple myeloma

    2 diseases from the University of Copenhagen DISEASES database for GABRD:
    Idiopathic generalized epilepsy     Dravet Syndrome

    GABRD for disorders           About GeneDecksing

    Genetic Association Database (GAD): GABRD
    Human Genome Epidemiology (HuGE) Navigator: GABRD (7 documents)

    Export disorders for GABRD 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 GABRD gene, integrated from 10 sources (see all 39):
    (articles sorted by number of sources associating them with GABRD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    2. Genetical genomic determinants of alcohol consumption in rats and humans. (PubMed id 19874574)1, 4 Tabakoff B....Hoffman P.L. (BMC Biol. 2009)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    4. Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy. (PubMed id 16023832)1, 4 Lenzen K.P....Sander T. (Epilepsy Res. 2005)
    5. GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. (PubMed id 15115768)1, 2 Dibbens L.M.... Mulley J.C. (Hum. Mol. Genet. 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping. (PubMed id 10965146)1, 3 Emberger W....Wagner K. (Cytogenet. Cell Genet. 2000)
    8. The murine GABAA receptor delta-subunit gene: structure and assignment to human chromosome 1. (PubMed id 2176788)1, 3 Sommer B....Seeburg P.H. (DNA Cell Biol. 1990)
    9. The quest for juvenile myoclonic epilepsy genes. (PubMed id 23756480)1 Delgado-Escueta A.V....DurA^n R.M. (amp 2013)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2563 HGNC: 4084 AceView: GABRD Ensembl:ENSG00000187730 euGenes: HUgn2563
    ECgene: GABRD Kegg: 2563 H-InvDB: GABRD

    (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 GABRD Pharmacogenomics, SNPs, Pathways

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

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



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