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

GABRD Gene

protein-coding   GIFtS: 67
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)
About This Section

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

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 1p36 deletion syndrome, and febrile seizures, and among its related super-pathways are Synaptic Neurotransmission: GABAergic Inhibition and Morphine addiction. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004350.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GABRD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 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
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O14764

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

    GABRD Protein Expression
    REFSEQ proteins: NP_000806.2  
    ENSEMBL proteins: 
     ENSP00000367848  

    Human Recombinant Protein Products for GABRD: 
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    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

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

    GABRD for ontologies           About GeneDecksing



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

    IUPHAR Guide to PHARMACOLOGY protein family classification: &delta 
    GABAA receptors

    5/6 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 (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--
         
    GABRD for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(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 - Custom generated mouse model solutions for GABRD 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GABRD

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GABRD 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GABRD About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1GABA A receptor activation
    Synaptic Neurotransmission: GABAergic Inhibition0.45
    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 EMD Millipore Pathway for GABRD
        GABA signaling in brain

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

    2 Downloadable PowerPoint Slides of QIAGEN 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

    Interactions:

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

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

    5/7 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 (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    10/23 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 blocker--
    THIP
    AgonistFull agonist--
    picrotoxin
    Channel blockerNone--

    Search CenterWatch for drugs/clinical trials and news about GABRD / GBRD

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)
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    Additional mRNA sequence: 

    AF016917.1 AK290861.1 BC033801.1 

    2 DOTS entries:

    DT.95160910  DT.453178 

    24/35 AceView cDNA sequences (see all 35):

    NM_000815 BQ951978 AW004058 BG702804 R88965 BM547796 BX279745 BI758571 
    BM545512 AA984687 BG037021 BI822807 BI757337 BC033801 AU122311 BI829118 
    AF016917 AW594540 BI824761 AI828107 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™, 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

    GABRD expression in normal human tissues (normalized intensities)      GABRD embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Metencephalon
             spinal cord/lateral wall/ventricular layer   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Medulla Oblongata
     
     Thymus (Hematopoietic System)
             Thymus
     
     Spinal Cord (Nervous System)
             spinal cord/lateral wall/ventricular layer   
     
     Eye (Sensory Organs)
             Cholinergic Amacrine Cells Inner Nuclear Layer

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

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

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    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for GABRD gene from 3/10 species (see all 10)    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 85.75(n)1
    92.65(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 75.47(n)
    85.28(a)
      770710  XM_001234040.1  XP_001234041.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5714221 similar to Gamma-aminobutyric acid receptor subunit more 74.08(n)
    79.63(a)
      571422  XM_695007.4  XP_700099.4 


    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)
    About This Section
    Paralogs for GABRD gene
    GLRA22  GABRR12  GLRA12  GLRB2  GABRB12  GABRP2  GLRA42  GABRB32  
    GABRB22  GABRQ2  GLRA32  GABRR22  
    18/24 SIMAP similar genes for GABRD using alignment to 1 protein entry:     GBRD_HUMAN(see all similar genes):
    GABRP    GABRQ    GABRR2    GABRR1    DKFZp781L0846    GABRB1
    GABRR3    GLRA4    GABRA2    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/385 SNPs in GABRD are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 137163   
    OMIM disorders: 604233  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

  • 16 diseases for GABRD:    About MalaCards
    1p36 deletion syndrome    febrile seizures    generalized epilepsy with febrile seizures plus, type 5    gabrd-related generalized epilepsy with febrile seizures plus
    epilepsy, idiopathic generalized, 10    gabrd-related juvenile myoclonic epilepsy    focal epilepsy    generalized epilepsy with febrile seizures plus
    juvenile myoclonic epilepsy    idiopathic generalized epilepsy    dravet syndrome    intellectual disability
    huntington's disease    schizophrenia    alcoholism    neuronitis

    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)
    About This Section

    PubMed articles for GABRD gene, integrated from 9 sources (see all 38):
    (articles sorted by number of sources associating them with GABRD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetical genomic determinants of alcohol consumption in rats and humans. (PubMed id 19874574)1, 4 Tabakoff B....Hoffman P.L. (2009)
    2. 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. (2008)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (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. (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. (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. (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. (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. (1990)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Molecular basis for the high THIP/gaboxadol sensitivi ty of extrasynaptic GABA(A) receptors. (PubMed id 21795619)1 Meera P....Otis T.S. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2563 HGNC: 4084 AceView: GABRD Ensembl:ENSG00000187730 euGenes: HUgn2563
    ECgene: GABRD Kegg: 2563 H-InvDB: GABRD

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GABRD Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    About This Section

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