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Aliases for GABRG3 Gene

Aliases for GABRG3 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Gamma3 Subunit 2 3 5
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Gamma 3 2
  • GABA(A) Receptor Subunit Gamma-3 4
  • GABA(G) Receptor, Gamma 3 2

External Ids for GABRG3 Gene

Previous GeneCards Identifiers for GABRG3 Gene

  • GC15P023369
  • GC15P020593
  • GC15P024651
  • GC15P024779
  • GC15P024800
  • GC15P027216
  • GC15P005344

Summaries for GABRG3 Gene

Entrez Gene Summary for GABRG3 Gene

  • This gene encodes a gamma-aminobutyric acid (GABA) receptor. 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. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012]

GeneCards Summary for GABRG3 Gene

GABRG3 (Gamma-Aminobutyric Acid Type A Receptor Gamma3 Subunit) is a Protein Coding gene. Diseases associated with GABRG3 include Autistic Disorder and Autism Spectrum Disorder. Among its related pathways are Ligand-gated ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRG1.

UniProtKB/Swiss-Prot for GABRG3 Gene

  • 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.

Tocris Summary for GABRG3 Gene

  • GABAA receptors are members of the Cys-loop family of ligand-gated ion channels and, along with GABAB receptors, are responsible for mediating the inhibitory effects of GABA. They are pentameric proteins, consisting of five subunits belonging to different families.

Gene Wiki entry for GABRG3 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABRG3 Gene

Genomics for GABRG3 Gene

Regulatory Elements for GABRG3 Gene

Enhancers for GABRG3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G027095 0.6 ENCODE 10.9 +125.1 125127 1.2 REST ATF2 EP300 RAD21 ZNF644 NR2F2 GABRG3 PIR33388
GH15G027094 0.5 ENCODE 11.1 +123.1 123109 0.6 CTCF CTBP1 RFX1 ATF2 GABRG3 PIR33388
GH15G027423 0.3 FANTOM5 2.5 +452.1 452104 0.3 GABRG3 ENSG00000259152 GC15P027476
GH15G026967 0.5 ENCODE 0.7 -3.0 -2970 0.9 HDAC2 SUZ12 POLR2A NRF1 RBBP5 TVP23BP1 GABRG3
GH15G026970 0.5 ENCODE 0.7 -0.2 -234 0.2 SP3 SUZ12 EZH2 GABRG3 TVP23BP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GABRG3 on UCSC Golden Path with GeneCards custom track

Genomic Location for GABRG3 Gene

Chromosome:
15
Start:
26,971,282 bp from pter
End:
27,541,991 bp from pter
Size:
570,710 bases
Orientation:
Plus strand

Genomic View for GABRG3 Gene

Genes around GABRG3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRG3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABRG3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRG3 Gene

Proteins for GABRG3 Gene

  • Protein details for GABRG3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99928-GBRG3_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit gamma-3
    Protein Accession:
    Q99928
    Secondary Accessions:
    • G3V594
    • Q9HD46
    • Q9NYT2

    Protein attributes for GABRG3 Gene

    Size:
    467 amino acids
    Molecular mass:
    54289 Da
    Quaternary structure:
    • Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.
    Miscellaneous:
    • This subunit carries the benzodiazepine binding site.

    Alternative splice isoforms for GABRG3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GABRG3 Gene

Post-translational modifications for GABRG3 Gene

No data available for DME Specific Peptides for GABRG3 Gene

Domains & Families for GABRG3 Gene

Gene Families for GABRG3 Gene

Suggested Antigen Peptide Sequences for GABRG3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99928

UniProtKB/Swiss-Prot:

GBRG3_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG3 sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG3 sub-subfamily.
genes like me logo Genes that share domains with GABRG3: view

Function for GABRG3 Gene

Molecular function for GABRG3 Gene

GENATLAS Biochemistry:
gamma-aminobutyric acid (GABA) A receptor,ionotropic,gamma 3,subunit,component of a pentameric receptor mediating inhibitory neurotransmission
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for GABRG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 GABA-A receptor activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005254 chloride channel activity IEA --
genes like me logo Genes that share ontologies with GABRG3: view
genes like me logo Genes that share phenotypes with GABRG3: view

Animal Model Products

miRNA for GABRG3 Gene

miRTarBase miRNAs that target GABRG3

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for GABRG3 (GABA-A R gamma 3)

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GABRG3 Gene

Localization for GABRG3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRG3 Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GABRG3 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for GABRG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
GO:0034707 chloride channel complex IEA --
genes like me logo Genes that share ontologies with GABRG3: view

Pathways & Interactions for GABRG3 Gene

genes like me logo Genes that share pathways with GABRG3: view

Gene Ontology (GO) - Biological Process for GABRG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007214 gamma-aminobutyric acid signaling pathway IEA --
GO:0034220 ion transmembrane transport TAS,IEA --
genes like me logo Genes that share ontologies with GABRG3: view

No data available for SIGNOR curated interactions for GABRG3 Gene

Drugs & Compounds for GABRG3 Gene

(66) Drugs for GABRG3 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adinazolam Approved Pharma agonist, Target, potentiator 0
Bromazepam Approved, Illicit Pharma binder, Target, potentiator 2
Chlordiazepoxide Approved, Illicit Pharma agonist, Target, positive allosteric modulator 5
Cinolazepam Approved Pharma binder, Target, potentiator 0
Clobazam Approved, Illicit Pharma antagonist, Target, positive allosteric modulator 20

(3) Additional Compounds for GABRG3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Alpha-hydroxyalprazolam
37115-43-8
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6

(5) Tocris Compounds for GABRG3 Gene

Compound Action Cas Number
(-)-Bicuculline methiodide Water-soluble GABAA antagonist 40709-69-1
(-)-Bicuculline methochloride Water-soluble GABAA antagonist 53552-05-9
Muscimol Potent GABAA agonist 2763-96-4
SR 95531 hydrobromide Selective, competitive GABAA receptor antagonist 104104-50-9
TP 003 Functionally selective GABAA receptor (alpha3 subtype) partial agonist 628690-75-5

(3) ApexBio Compounds for GABRG3 Gene

Compound Action Cas Number
(+)-Bicuculline GABAA receptor antagonist,competitve and classical 485-49-4
Bemegride 64-65-3
Picrotoxin 124-87-8
genes like me logo Genes that share compounds with GABRG3: view

Transcripts for GABRG3 Gene

mRNA/cDNA for GABRG3 Gene

(7) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GABRG3 Gene

Gamma-aminobutyric acid (GABA) A receptor, gamma 3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for GABRG3 (GABA-A R gamma 3)

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GABRG3 Gene

No ASD Table

Relevant External Links for GABRG3 Gene

GeneLoc Exon Structure for
GABRG3
ECgene alternative splicing isoforms for
GABRG3

Expression for GABRG3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GABRG3 Gene

mRNA differential expression in normal tissues according to GTEx for GABRG3 Gene

This gene is overexpressed in Testis (x8.0), Brain - Hypothalamus (x6.5), and Pituitary (x4.2).

Protein differential expression in normal tissues from HIPED for GABRG3 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GABRG3 Gene



Protein tissue co-expression partners for GABRG3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GABRG3 Gene:

GABRG3

SOURCE GeneReport for Unigene cluster for GABRG3 Gene:

Hs.569475

Evidence on tissue expression from TISSUES for GABRG3 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with GABRG3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GABRG3 Gene

Orthologs for GABRG3 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRG3 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia GABRG3 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRG3 34 35
  • 92.22 (n)
cow
(Bos Taurus)
Mammalia GABRG3 34
  • 89.16 (n)
mouse
(Mus musculus)
Mammalia Gabrg3 34 16 35
  • 88.15 (n)
rat
(Rattus norvegicus)
Mammalia Gabrg3 34
  • 88.08 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GABRG3 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves GABRG3 34 35
  • 82.53 (n)
lizard
(Anolis carolinensis)
Reptilia GABRG3 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabrg3 34
  • 78.77 (n)
zebrafish
(Danio rerio)
Actinopterygii gabrg3 34
  • 76.18 (n)
si:dkey-192o1.3 35
  • 33 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Grd 36 35
  • 43 (a)
CG8916 36 35
  • 40 (a)
ort 36
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea T15B7.16 36
  • 32 (a)
Y71D11A.5 36
  • 31 (a)
lgc-37 35
  • 31 (a)
ManyToMany
F09G2.5 36
  • 28 (a)
lgc-36 35
  • 24 (a)
ManyToMany
Species where no ortholog for GABRG3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GABRG3 Gene

ENSEMBL:
Gene Tree for GABRG3 (if available)
TreeFam:
Gene Tree for GABRG3 (if available)

Paralogs for GABRG3 Gene

Paralogs for GABRG3 Gene

genes like me logo Genes that share paralogs with GABRG3: view

Variants for GABRG3 Gene

Sequence variations from dbSNP and Humsavar for GABRG3 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs483352763 Uncertain significance 27,326,874(+) AGCAC(A/G)ATGAA reference, synonymous-codon, utr-variant-5-prime
rs1000004779 -- 27,222,937(+) AGAGT(A/G)GAATG intron-variant
rs1000005115 -- 27,196,682(+) ATTTA(A/G)TTAAT intron-variant
rs1000007606 -- 27,235,885(+) TCCAC(G/T)GATGA intron-variant
rs1000013137 -- 27,510,866(+) AATTA(A/G)CACTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GABRG3 Gene

Variant ID Type Subtype PubMed ID
dgv4405n54 CNV loss 21841781
dgv4406n54 CNV loss 21841781
dgv4407n54 CNV loss 21841781
dgv4408n54 CNV loss 21841781
dgv4409n54 CNV loss 21841781
esv1006704 CNV gain 20482838
esv1031890 CNV deletion 17803354
esv1041247 CNV deletion 17803354
esv1147352 CNV insertion 17803354
esv1762053 CNV insertion 17803354
esv2079283 CNV deletion 18987734
esv22196 CNV loss 19812545
esv22505 CNV loss 19812545
esv2484353 CNV insertion 19546169
esv24852 CNV gain 19812545
esv2573297 CNV insertion 19546169
esv2634934 CNV loss 19546169
esv2657489 CNV deletion 23128226
esv2657503 CNV deletion 23128226
esv2659074 CNV deletion 23128226
esv2659305 CNV deletion 23128226
esv2663965 CNV deletion 23128226
esv2668795 CNV deletion 23128226
esv2676077 CNV deletion 23128226
esv2761858 CNV loss 21179565
esv3188684 CNV deletion 24192839
esv32599 CNV gain 17666407
esv34176 CNV loss 18971310
esv3552238 CNV deletion 23714750
esv3569354 CNV gain 25503493
esv3581600 CNV loss 25503493
esv3581601 CNV loss 25503493
esv3635964 CNV gain 21293372
esv3635968 CNV loss 21293372
esv3635969 CNV loss 21293372
esv3635970 CNV loss 21293372
esv3635972 CNV loss 21293372
esv3635974 CNV loss 21293372
esv3635977 CNV loss 21293372
esv3892639 CNV gain 25118596
esv4698 CNV loss 18987735
esv996941 CNV deletion 20482838
esv997057 CNV loss 20482838
nsv1035534 CNV loss 25217958
nsv1077803 CNV duplication 25765185
nsv1108943 CNV deletion 24896259
nsv1116059 CNV deletion 24896259
nsv1122947 CNV deletion 24896259
nsv1122948 CNV deletion 24896259
nsv1127419 CNV deletion 24896259
nsv1132868 CNV insertion 24896259
nsv1134424 CNV deletion 24896259
nsv1134425 CNV deletion 24896259
nsv1141258 CNV duplication 24896259
nsv1146864 CNV duplication 26484159
nsv1152985 OTHER inversion 26484159
nsv437173 CNV loss 16327808
nsv438268 CNV loss 16468122
nsv456734 CNV loss 19166990
nsv472081 CNV novel sequence insertion 20440878
nsv473386 CNV novel sequence insertion 20440878
nsv473437 CNV novel sequence insertion 20440878
nsv473746 CNV novel sequence insertion 20440878
nsv474963 CNV novel sequence insertion 20440878
nsv477343 CNV novel sequence insertion 20440878
nsv478056 CNV novel sequence insertion 20440878
nsv478262 CNV novel sequence insertion 20440878
nsv479474 CNV novel sequence insertion 20440878
nsv480897 CNV novel sequence insertion 20440878
nsv481098 CNV novel sequence insertion 20440878
nsv524957 CNV loss 19592680
nsv525863 CNV gain 19592680
nsv568637 CNV loss 21841781
nsv568645 CNV loss 21841781
nsv568655 CNV loss 21841781
nsv820165 CNV gain 19587683
nsv820788 CNV deletion 20802225
nsv827266 CNV loss 20364138
nsv832940 CNV loss 17160897
nsv9203 CNV gain 18304495
nsv9204 CNV loss 18304495
nsv94466 CNV deletion 16902084
nsv94798 CNV insertion 16902084
nsv952577 CNV duplication 24416366

Variation tolerance for GABRG3 Gene

Residual Variation Intolerance Score: 20.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.34; 26.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GABRG3 Gene

Human Gene Mutation Database (HGMD)
GABRG3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABRG3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABRG3 Gene

Disorders for GABRG3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GABRG3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
autistic disorder
  • autism
autism spectrum disorder
  • pervasive development disorder
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for GABRG3

Genetic Association Database (GAD)
GABRG3
Human Genome Epidemiology (HuGE) Navigator
GABRG3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GABRG3
genes like me logo Genes that share disorders with GABRG3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GABRG3 Gene

Publications for GABRG3 Gene

  1. Association of GABRG3 with alcohol dependence. (PMID: 14745296) Dick D.M. … Foroud T. (Alcohol. Clin. Exp. Res. 2004) 3 22 46 64
  2. The gamma-aminobutyric acid receptor gamma 3 subunit gene (GABRG3) is tightly linked to the alpha 5 subunit gene (GABRA5) on human chromosome 15q11-q13 and is transcribed in the same orientation. (PMID: 7601451) Greger V. … Nakatsu Y. (Genomics 1995) 2 3 22 64
  3. Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype. (PMID: 19078961) Craddock N. … O'Donovan M.C. (Mol. Psychiatry 2010) 3 46 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PMID: 20398908) Saus E. … Estivill X. (J Psychiatr Res 2010) 3 46 64

Products for GABRG3 Gene

Sources for GABRG3 Gene

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