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GABRB3 Gene

protein-coding   GIFtS: 73
GCID: GC15M026788

Gamma-Aminobutyric Acid (GABA) A Receptor, Beta 3

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(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, Beta 31 2     GABA-Alpha Receptor Beta-2 Subunit2
ECA52 5     GABAA Receptor Beta-3 Subunit2
Beta 31     Gamma-Aminobutyric Acid Receptor Subunit Beta-32
GABA(A) Receptor1     GABA(A) Receptor Subunit Beta-33

External Ids:    HGNC: 40831   Entrez Gene: 25622   Ensembl: ENSG000001662067   OMIM: 1371925   UniProtKB: P284723   

Export aliases for GABRB3 gene to outside databases

Previous GC identifers: GC15M022994 GC15M019538 GC15M024209 GC15M024338 GC15M024342 GC15M004917


(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 GABRB3 Gene:
This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a
multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory
neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a
cluster with two other genes encoding related subunits of the family. This gene may be associated with the
pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial
clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been
described. (provided by RefSeq, Jul 2013)

GeneCards Summary for GABRB3 Gene:
GABRB3 (gamma-aminobutyric acid (GABA) A receptor, beta 3) is a protein-coding gene. Diseases associated with GABRB3 include insomnia, and epilepsy, childhood absence, susceptibility to, 5. 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: GBRB3_HUMAN, P28472
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 GABRB3 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 GABRB3 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_000015.10  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the GABRB3 gene promoter:
         NRSF form 1   AP-4   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGABRB3 promoter sequence
   Search Chromatin IP Primers for GABRB3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GABRB3


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

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

GABRB3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GABRB3 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M026788:  view genomic region     (about GC identifiers)

Start:
26,788,693 bp from pter      End:
27,184,686 bp from pter
Size:
395,994 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GBRB3_HUMAN, P28472 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor subunit beta-3 precursor  
Size: 473 amino acids; 54116 Da
Subunit: Binds UBQLN1 (By similarity). Generally pentameric. There are five types of GABA(A) receptor chains:
alpha, beta, gamma, delta, and rho
Secondary accessions: B7Z2W1 B7Z825 F5H3D2 H7BYV8 Q14352 Q96FM5
Alternative splicing: 4 isoforms:  P28472-1   P28472-2   P28472-3   P28472-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GABRB3: NX_P28472

Explore proteomics data for GABRB3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn33, Asn105, Asn174
  • Modification sites at PhosphoSitePlus

  • See GABRB3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_000805.1  NP_001178249.1  NP_001178250.1  NP_001265560.1  NP_068712.1  

    ENSEMBL proteins: 
     ENSP00000308725   ENSP00000442408   ENSP00000299267   ENSP00000383049   ENSP00000452041  
     ENSP00000439169   ENSP00000451077   ENSP00000452272   ENSP00000452159   ENSP00000451430  
    Reactome Protein details: P28472

    GABRB3 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: beta3
    GABAA receptors

    Selected InterPro protein domains (see all 6):
     IPR002289 GABAAb_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 P28472

    ProtoNet protein and cluster: P28472

    3 Blocks protein domains:
    IPB002289 Gamma-aminobutyric-acid A receptor beta subunit signature
    IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
    IPB006201 Neurotransmitter-gated ion-channel


    UniProtKB/Swiss-Prot: GBRB3_HUMAN, P28472
    Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC
    1.A.9.5) subfamily. GABRB3 sub-subfamily


    GABRB3 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: GBRB3_HUMAN, P28472
    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 GABRB3:
    gamma-aminobutyric acid (GABA) A receptor,ionotropic,beta 3,subunit,component of a pentameric receptor mediating
    inhibitory neurotransmission putatively involved in epileptic seizures in Angelman syndrome (ANCR),unlikely to be
    involved in autism

         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--
         
    GABRB3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GABRB3:
     Decreased cell number, increas 

         11 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Gabrb3):
     behavior/neurological  craniofacial  digestive/alimentary  growth/size/body  hearing/vestibular/ear 
     mortality/aging  nervous system  no phenotypic analysis  normal  reproductive system 
     skeleton 

    GABRB3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GABRB3: Gabrb3tm2.2Geh Gabrb3tm1Geh

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GABRB3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GABRB3
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    miRNA
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    hsa-mir-26b-5p (MIRT029728), hsa-mir-125b-5p (MIRT045964)

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    Selected qRT-PCR Assays for microRNAs that regulate GABRB3 (see all 85):
    hsa-miR-300 hsa-miR-3074-3p hsa-miR-4275 hsa-miR-3161 hsa-miR-629* hsa-miR-3613-3p hsa-miR-642b hsa-miR-490-3p
    SwitchGear 3'UTR luciferase reporter plasmidGABRB3 3' UTR sequence
    Inhib. RNA
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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
    GBRB3_HUMAN, P28472: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
    membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS1664410
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----
    GO:0030054cell junction IEA--

    GABRB3 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 GABRB3 About   (see all 15)                                                                                              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
    Serotonergic synapse0.33
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    4Ligand-gated ion channel transport
    GABA A receptor activation0.00
    Ligand-gated ion channel transport
    5GABA receptor activation
    GABA receptor activation0.73

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for GABRB3
        Synaptic Neurotransmission: GABAergic Inhibition

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GABRB3
        Sperm Motility
    Akt Signaling

    1 Tocris Bioscience Pathway for GABRB3
        Akt Pathway

    2 GeneGo (Thomson Reuters) Pathways for GABRB3
        Signal transduction PKA signaling
    Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling

    1 BioSystems Pathway for GABRB3
        BDNF signaling pathway


    2 Reactome Pathways for GABRB3
        GABA A receptor activation
    Ligand-gated ion channel transport


    Selected Kegg Pathways  (Kegg details for GABRB3) (see all 6):
        Neuroactive ligand-receptor interaction
    Retrograde endocannabinoid signaling
    Serotonergic synapse
    GABAergic synapse
    Morphine addiction


    GABRB3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABRB3: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat
              Embryonic Stem Cells in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GABRB3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for GABRB3 (P284723 ENSP000002992674) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARFGEF2Q9Y6D53, ENSP000003609854I2D: score=1 STRING: ENSP00000360985
    GNB2L1P632443, ENSP000003660134I2D: score=1 STRING: ENSP00000366013
    PRKACAP176123, ENSP000003095914I2D: score=1 STRING: ENSP00000309591
    PPP2CAP677753, ENSP000004184474I2D: score=1 STRING: ENSP00000418447
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS1664410
    GO:0006811ion transport ----
    GO:0007165signal transduction TAS1664410
    GO:0007268synaptic transmission TAS--
    GO:0007605sensory perception of sound IEA--

    GABRB3 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 compounds at ApexBio 

    Compounds for GABRB3 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 GABRB3    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 GABRB3 (see all 27)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    PiperazineDiethylenediamine (see all 8)110-85-0targetagonist11156579 17139284 17016423 10592235
    Ivermectin22,23-Dihydroxy-avermectin B (see all 3)70288-86-7targetagonist12421359 17016423 10592235
    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

    2 IUPHAR Ligands for GABRB3 (beta3)    About this table
    LigandTypeActionAffinityPubmed IDs
    TBPS
    Channel blockerNone--
    picrotoxin
    Channel blockerNone--

    1 Novoseek inferred chemical compound relationship for GABRB3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gaba 74.5 37 15498372 (2), 8188218 (2), 18514161 (2), 17206404 (2) (see all 20)



    GABRB3 for compounds           About GeneDecksing



    (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,
    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 GABRB3 gene (5 alternative transcripts): 
    NM_000814.5  NM_001191320.1  NM_001191321.2  NM_001278631.1  NM_021912.4  

    Unigene Cluster for GABRB3:

    Gamma-aminobutyric acid (GABA) A receptor, beta 3
    Hs.302352  [show with all ESTs]
    Unigene Representative Sequence: NM_000814
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000311550(uc021sgg.1 uc021sgh.1 uc001zaz.3 uc001zba.3)
    ENST00000541819(uc001zbb.3) ENST00000299267 ENST00000400188 ENST00000555632
    ENST00000545868 ENST00000554556 ENST00000557765 ENST00000555094 ENST00000556636
    ENST00000556166(uc001zbc.3) ENST00000557641 ENST00000554722

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    hsa-miR-300 hsa-miR-3074-3p hsa-miR-4275 hsa-miR-3161 hsa-miR-629* hsa-miR-3613-3p hsa-miR-642b hsa-miR-490-3p
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    Additional mRNA sequence: 

    AK056018.1 AK095011.1 AK295167.1 AK302822.1 AK315311.1 BC010641.1 M82919.1 

    5 DOTS entries:

    DT.114079  DT.97860651  DT.92419326  DT.101977158  DT.121034552 

    Selected AceView cDNA sequences (see all 179):

    BX332587 AI638301 CR597025 F04873 BM711834 BQ269006 BM667212 T33799 
    AA826370 AI208093 NM_000814 AW593469 BM724506 AW138113 BC010641 BM021465 
    Z45038 AK095011 AA332100 F03582 BX366284 BM698047 BE045632 BE463799 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for GABRB3    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14
    SP1:                          -     -                       -     -           -                                 
    SP2:                          -     -     -                 -     -           -                                 
    SP3:                                                                                                            
    SP4:                                                                                                            
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for GABRB3

    (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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    GABRB3 expression in normal human tissues (normalized intensities)      GABRB3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAAAACAGC
    GABRB3 Expression
    About this image


    GABRB3 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
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 10 entries
             ES03(HES-3)
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
     
     Adipose (Muscoskeletal System)
             Mesenchymal Stem Cells Subcutaneous White Adipose
     
     Eye (Sensory Organs)
             Lens
     
     Mesenchymal Stem Cells
             Mesenchymal Stem Cells Subcutaneous White Adipose
    GABRB3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GABRB3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.302352
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABRB3: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat
              Embryonic Stem Cells in human mouse rat

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

    Orthologs for GABRB3 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gabrb31 , 5 gamma-aminobutyric acid (GABA) A receptor, subunit more1, 5 91.97(n)1
    97.25(a)1
      7 (33.53 cM)5
    144021  NM_008071.31  NP_032097.11 
     575905185 
    chicken
    (Gallus gallus)
    Aves GABRB31 gamma-aminobutyric acid (GABA) A receptor, beta 3 82.8(n)
    91.97(a)
      396290  NM_205346.3  NP_990677.1 
    lizard
    (Anolis carolinensis)
    Reptilia GABRB36
    gamma-aminobutyric acid (GABA) A receptor, beta 3
    90(a)
    1 ↔ 1
    3(110242994-110271459)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gabrb31 gamma-aminobutyric acid (GABA) A receptor, beta 3 77.87(n)
    88.09(a)
      100124708  NM_001102694.1  NP_001096164.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gabrb31 gamma-aminobutyric acid (GABA) A receptor, beta 3 74.86(n)
    85.9(a)
      566922  XM_005166081.1  XP_005166138.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Lcch31 , 3 GABA-A receptor3
    Ligand-gated chloride channel homolog 31
    49(a)
    (best of 7)3
    54.21(n)1
    50.76(a)1
      14A13
    325541  NM_206746.11  NP_996469.11 
    worm
    (Caenorhabditis elegans)
    Secernentea gab-11 , 3 GABA receptor3
    gab-11
    43(a)
    (best of 19)3
    52.59(n)1
    50.58(a)1
      III(12844721-12850963)3
    1766911  NM_067260.31  NP_499661.21 


    ENSEMBL Gene Tree for GABRB3 (if available)
    TreeFam Gene Tree for GABRB3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GABRB3 gene
    GLRA22  GABRR12  GLRA12  GLRB2  GABRB12  GABRR32  GABRD2  GLRA42  
    GABRP2  GABRB22  GABRQ2  GLRA32  GABRR22  
    Selected SIMAP similar genes for GABRB3 using alignment to 8 protein entries:     GBRB3_HUMAN (see all proteins) (see all similar genes):
    DKFZp781L0846    GABRB1    GABRB2    GABRQ    GABRP    GABRA2
    GABRA5    GABRA6    GABRR2    GABRD    GABRR1    GLRA4
    GABRR3    GABRE    GABRG3    GLRA3    GLRA2    GABRA3

    GABRB3 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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    GBRB3_HUMAN, P28472: GABRB3 variants may be associated with insomnia, a condition of inability to initiate or maintain
    sleep [MIM:137192]


    Selected SNPs for GABRB3 (see all 5302)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0479574
    Epilepsy, childhood absence 5 (ECA5)4--see VAR_0479572 G R mis40--------
    rs1481395341,2
    Cuntested126971180(+) TGGGTA/G/TTGCTA 2 -- int10--------
    rs716516821,2
    Cother127017906(+) GTTCCC/TGGGAT 4 R G mis12Minor allele frequency- T:0.00CSAM 1356
    rs1219131261,2
    Cother127018828(-) GCTCTC/TCTGGA 3 S F mis1 us2k10--------
    rs254091,2
    C,F,Hother127018841(-) TGCTGC/TCCATC 3 P S us2k1 mis1 ese36Minor allele frequency- T:0.01NA NS EA 3326
    rs1507563041,2
    --5149718(+) AACAAA/GCCCAC 1 -- int10--------
    rs42730081,2
    C,H--5149734(+) ATATGC/ATCACC 1 -- int112Minor allele frequency- A:0.08NA WA CSA 257
    rs1393384681,2
    --5149745(+) TCATAA/TCCGCA 1 -- int10--------
    rs1897375801,2
    --26788382(+) CCACCC/TTGGCC 4 -- ds50010--------
    rs754911051,2
    C,F--26788484(+) CTGTGT/CGTCTA 4 -- ds50011Minor allele frequency- C:0.06WA 118

    HapMap Linkage Disequilibrium report for GABRB3 (26788693 - 27038693 bp, first 250kb of GABRB3)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GABRB3 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2749483CNV Deletion23290073
    esv2669363CNV Deletion23128226
    esv2665879CNV Deletion23128226
    esv2657740CNV Deletion23128226
    esv2663146CNV Deletion23128226
    esv2749482CNV Deletion23290073
    esv2749481CNV Deletion23290073
    esv274626CNV Insertion20981092
    esv268286CNV Insertion20981092
    esv1400114CNV Insertion17803354

    Human Gene Mutation Database (HGMD): GABRB3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GABRB3
    DNA2.0 Custom Variant and Variant Library Synthesis for GABRB3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 137192   
    OMIM disorders: 612269  
    UniProtKB/Swiss-Prot: GBRB3_HUMAN, P28472
  • Epilepsy, childhood absence 5 (ECA5) [MIM:612269]: 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. Absence
    seizures may either remit or persist into adulthood. Note=Disease susceptibility is associated with variations
    affecting the gene represented in this entry

  • Selected diseases for GABRB3 (see all 42):    About MalaCards
    insomnia    epilepsy, childhood absence, susceptibility to, 5    diaphragmatic eventration    pervasive developmental disorder
    orofacial cleft    prader-willi syndrome    childhood absence epilepsy    epilepsy, childhood absence, susceptibility to, 2
    atypical autism    post-traumatic stress disorder    juvenile absence epilepsy    angelman syndrome
    rett syndrome    psychotic disorder    autistic disorder    juvenile myoclonic epilepsy
    idiopathic generalized epilepsy    cleft palate    nicotine addiction    asperger syndrome

    9 diseases from the University of Copenhagen DISEASES database for GABRB3:
    Angelman syndrome     Prader-Willi syndrome     Autistic disorder     Juvenile absence epilepsy
    Atypical autism     Childhood disintegrative disease     Cleft lip     Cleft palate
    Diaphragmatic eventration

    GABRB3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    Selected Novoseek inferred disease relationships for GABRB3 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    angelman syndrome 92.5 14 10515160 (2), 8389098 (2), 10514831 (1), 8094063 (1) (see all 10)
    prader-willi syndrome 77.8 2 8188218 (1), 1664410 (1)
    childhood absence epilepsy 76.1 4 20308251 (1), 15498372 (1), 18514161 (1), 12194792 (1)
    autistic 65.1 6 17598645 (2), 12491987 (2), 12092907 (1), 11920158 (1)
    rett syndrome 52 1 17339270 (1)
    pervasive developmental disorder 45.1 1 11785506 (1)
    cleft palate 38.3 6 18452349 (3), 8389469 (1)
    epilepsy 35 2 20308251 (1), 10515160 (1)
    chromosomal aberrations 24.9 1 12491987 (1)
    alcoholism 20.1 3 15296817 (2)

    Genetic Association Database (GAD): GABRB3
    Human Genome Epidemiology (HuGE) Navigator: GABRB3 (37 documents)

    Export disorders for GABRB3 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 GABRB3 gene, integrated from 10 sources (see all 158):
    (articles sorted by number of sources associating them with GABRB3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of the GABRB3 gene with nonsyndromic oral clefts. (PubMed id 18452349)1, 4, 9 Inoue H....Suzuki Y. (Cleft Palate Craniofac. J. 2008)
    2. Association of GABRB3 polymorphisms with autism spectrum disorders in Korean trios. (PubMed id 17230033)1, 4, 9 Kim S.A....Yoo H.J. (Neuropsychobiology 2006)
    3. Alcohol-related expectancies are associated with the D2 dopamine receptor and GABAA receptor beta3 subunit genes. (PubMed id 15296817)1, 4, 9 Young R.M....Noble E.P. (Psychiatry Res 2004)
    4. The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7. (PubMed id 1664410)1, 2, 9 Wagstaff J.... Lalande M. (Genomics 1991)
    5. Polymorphisms in SLC6A4, PAH, GABRB3, and MAOB and modification of psychotic disorder features. (PubMed id 19268543)1, 4, 9 Bergen S.E....Kendler K.S. (Schizophr. Res. 2009)
    6. Microsatellite marker in gamma - aminobutyric acid - a receptor beta 3 subunit gene and autism spectrum disorders in Korean trios. (PubMed id 19430570)1, 4, 9 Yoo H.K....Cho S.C. (Yonsei Med. J. 2009)
    7. Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. (PubMed id 18514161)1, 2, 9 Tanaka M....Delgado-Escueta A.V. (Am. J. Hum. Genet. 2008)
    8. Association study of dopamine D2, D4 receptor gene, GABAA receptor beta subunit gene, serotonin transporter gene polymorphism with children of alcoholics in Korea: a preliminary study. (PubMed id 18358985)1, 4, 9 Namkoong K....Lee J.Y. (Alcohol 2008)
    9. A strong promoter element is located between alternative exons of a gene encoding the human gamma-aminobutyric acid-type A receptor beta 3 subunit (GABRB3). (PubMed id 8382702)1, 2, 9 Kirkness E.F. and Fraser C.M. (J. Biol. Chem. 1993)
    10. Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15. (PubMed id 1714232)1, 2, 9 Wagstaff J.... Lalande M. (Am. J. Hum. Genet. 1991)

    (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: 2562 HGNC: 4083 AceView: GABRB3 Ensembl:ENSG00000166206 euGenes: HUgn2562
    ECgene: GABRB3 Kegg: 2562 H-InvDB: GABRB3

    (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 GABRB3 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 GABRB3 gene:
    Search GeneIP for patents involving GABRB3

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



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