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Aliases for GABRG3 Gene

Aliases for GABRG3 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Gamma3 Subunit 2 3
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Gamma 3 2 5
  • GABA(A) Receptor Subunit Gamma-3 4
  • GABA(G) Receptor 2
  • 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 Apoptosis Pathway and Transmission across Chemical Synapses. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRA4.

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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

Proteomics data for GABRG3 Gene at MOPED

Post-translational modifications for GABRG3 Gene

Other Protein References 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 contributes_to GABA-A receptor activity IBA --
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

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
Jensen Localization Image for GABRG3 Gene 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:0016021 integral component of membrane 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:0006811 ion transport IEA --
GO:0007214 gamma-aminobutyric acid signaling pathway IEA --
GO:0055085 transmembrane transport TAS --
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

(60) 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 4
Cinolazepam Approved Pharma binder, Target, potentiator 0
Clobazam Approved, Illicit Pharma antagonist, Target, positive allosteric modulator 19

(6) Additional Compounds for GABRG3 Gene - From: Tocris, Novoseek, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
gaba
56-12-2
Alpha-hydroxyalprazolam
37115-43-8
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
Isoguvacine hydrochloride
68547-97-7
TACA
38090-53-8

(5) Tocris Compounds for GABRG3 Gene

Compound Action Cas Number
GABA Endogenous agonist 56-12-2
Isoguvacine hydrochloride Selective GABAA agonist 68547-97-7
Muscimol Potent GABAA agonist 2763-96-4
TACA GABAA agonist. Also GABA-T substrate and GABA uptake inhibitor 38090-53-8
ZAPA sulfate Agonist at 'low affinity' GABAA receptor. More potent than GABA/muscimol 371962-01-5

(2) ApexBio Compounds for GABRG3 Gene

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

Transcripts for GABRG3 Gene

mRNA/cDNA for GABRG3 Gene

(5) 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:

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 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



SOURCE GeneReport for Unigene cluster for GABRG3 Gene Hs.569475

genes like me logo Genes that share expression patterns with GABRG3: view

Protein tissue co-expression partners for GABRG3 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia GABRG3 35
  • 89.16 (n)
  • 94.84 (a)
dog
(Canis familiaris)
Mammalia GABRG3 35
  • 92.22 (n)
  • 98.07 (a)
GABRG3 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabrg3 35
  • 88.15 (n)
  • 95.93 (a)
Gabrg3 16
Gabrg3 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabrg3 35
  • 88.08 (n)
  • 95.72 (a)
oppossum
(Monodelphis domestica)
Mammalia GABRG3 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABRG3 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves GABRG3 35
  • 82.53 (n)
  • 92.54 (a)
GABRG3 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRG3 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabrg3 35
  • 78.77 (n)
  • 89.91 (a)
zebrafish
(Danio rerio)
Actinopterygii gabrg3 35
  • 76.18 (n)
  • 86.79 (a)
si:dkey-192o1.3 36
  • 33 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8916 37
  • 40 (a)
Grd 37
  • 43 (a)
ort 37
  • 35 (a)
CG8916 36
  • 26 (a)
ManyToMany
Grd 36
  • 25 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F09G2.5 37
  • 28 (a)
T15B7.16 37
  • 32 (a)
Y71D11A.5 37
  • 31 (a)
lgc-36 36
  • 24 (a)
ManyToMany
lgc-37 36
  • 31 (a)
ManyToMany
Species with no ortholog for GABRG3:
  • 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
rs2066712 - 27,527,621(+) AGAAG(A/G)CAACA reference, missense
rs83100 -- 27,183,174(-) TGTCA(A/C)ACACT intron-variant
rs140670 -- 26,976,868(+) CGGGT(A/T)TTCAC intron-variant
rs140671 -- 26,976,951(+) TCTTC(C/G)TAGAG intron-variant
rs140672 -- 27,327,045(+) GCATC(A/G)ATCTT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2749487 CNV Deletion 23290073
esv2668795 CNV Deletion 23128226
nsv456734 CNV Loss 19166990
esv2663965 CNV Deletion 23128226
esv22505 CNV Loss 19812545
nsv437173 CNV Loss 16327808
nsv9203 CNV Gain 18304495
nsv827266 CNV Loss 20364138
nsv820788 CNV Deletion 20802225
esv24852 CNV Gain 19812545
esv2659305 CNV Deletion 23128226
nsv820165 CNV Gain 19587683
nsv438268 CNV Loss 16468122
nsv525863 CNV Gain 19592680
esv2676077 CNV Deletion 23128226
esv22196 CNV Loss 19812545
nsv524957 CNV Loss 19592680
esv2749489 CNV Deletion 23290073
esv4698 CNV Deletion 18987735
esv2749490 CNV Deletion 23290073
esv996941 CNV Deletion 20482838
esv1031890 CNV Deletion 17803354
esv2657489 CNV Deletion 23128226
nsv94466 CNV Loss 16902084
esv997057 CNV Loss 20482838
esv2657503 CNV Deletion 23128226
esv2634934 CNV Loss 19546169
esv2749491 CNV Deletion 23290073
esv2749492 CNV Deletion 23290073
esv2749493 CNV Deletion 23290073
esv2749494 CNV Deletion 23290073
nsv94798 CNV Insertion 16902084
nsv9204 CNV Loss 18304495
esv32599 CNV Gain 17666407
esv2573297 CNV Insertion 19546169
esv1147352 CNV Insertion 17803354
esv2749495 CNV Deletion 23290073
esv2079283 CNV Deletion 18987734
esv2749496 CNV Deletion 23290073
esv2659074 CNV Deletion 23128226
esv1041247 CNV Deletion 17803354
esv1762053 CNV Insertion 17803354
esv34176 CNV Loss 18971310
nsv832940 CNV Loss 17160897
nsv903730 CNV Gain 21882294
esv2749498 CNV Deletion 23290073
esv1006704 CNV Gain 20482838
esv2484353 CNV Insertion 19546169
esv270591 CNV Insertion 20981092
esv272631 CNV Insertion 20981092

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

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

Disorders for GABRG3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
autistic disorder
  • autism
autism spectrum disorder
  • pervasive development disorder
alcohol dependence
  • alcohol dependence, protection against
- 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 23 48 67
  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 23
  3. Atypical behavioural effects of lorazepam: clues to the design of novel therapies? (PMID: 20138190) Giersch A. … Vidailhet P. (Pharmacol. Ther. 2010) 25 26
  4. Benzodiazepines in epilepsy: pharmacology and pharmacokinetics. (PMID: 18384456) Riss J. … Collins S. (Acta Neurol. Scand. 2008) 25 26
  5. Benzodiazepine metabolism: an analytical perspective. (PMID: 18855614) Mandrioli R. … Raggi M.A. (Curr. Drug Metab. 2008) 25 26

Products for GABRG3 Gene

Sources for GABRG3 Gene

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