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Aliases for GABRA3 Gene

Aliases for GABRA3 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Alpha3 Subunit 2 3
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 3 2 5
  • GABA(A) Receptor Subunit Alpha-3 4
  • GABA(A) Receptor 2
  • Alpha 3 2

External Ids for GABRA3 Gene

Previous GeneCards Identifiers for GABRA3 Gene

  • GC0XM145671
  • GC0XM147993
  • GC0XM149084
  • GC0XM149954
  • GC0XM151007
  • GC0XM151085
  • GC0XM151334
  • GC0XM140189

Summaries for GABRA3 Gene

Entrez Gene Summary for GABRA3 Gene

  • 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. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for GABRA3 Gene

GABRA3 (Gamma-Aminobutyric Acid Type A Receptor Alpha3 Subunit) is a Protein Coding gene. Diseases associated with GABRA3 include thyrotoxic periodic paralysis and mucopolysaccharidosis ii. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Circadian entrainment. 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 GABRA3 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 GABRA3 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 GABRA3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABRA3 Gene

Genomics for GABRA3 Gene

Regulatory Elements for GABRA3 Gene

Genomic Location for GABRA3 Gene

Chromosome:
X
Start:
152,166,234 bp from pter
End:
152,451,359 bp from pter
Size:
285,126 bases
Orientation:
Minus strand

Genomic View for GABRA3 Gene

Genes around GABRA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABRA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRA3 Gene

Proteins for GABRA3 Gene

  • Protein details for GABRA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P34903-GBRA3_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit alpha-3
    Protein Accession:
    P34903
    Secondary Accessions:
    • Q8TAF9

    Protein attributes for GABRA3 Gene

    Size:
    492 amino acids
    Molecular mass:
    55165 Da
    Quaternary structure:
    • Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho. Binds UBQLN1 (By similarity). Interacts with GPHN (PubMed:26613940).

neXtProt entry for GABRA3 Gene

Proteomics data for GABRA3 Gene at MOPED

Post-translational modifications for GABRA3 Gene

  • Glycosylation at Asn 63, Asn 163, Asn 176, and Asn 228
  • Modification sites at PhosphoSitePlus

Other Protein References for GABRA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GABRA3 Gene

Domains & Families for GABRA3 Gene

Gene Families for GABRA3 Gene

Suggested Antigen Peptide Sequences for GABRA3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P34903

UniProtKB/Swiss-Prot:

GBRA3_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA3 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. GABRA3 sub-subfamily.
genes like me logo Genes that share domains with GABRA3: view

Function for GABRA3 Gene

Molecular function for GABRA3 Gene

GENATLAS Biochemistry:
gamma-aminobutyric acid (GABA) A receptor,ionotropic,alpha 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 GABRA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 contributes_to GABA-A receptor activity IBA --
GO:0008503 benzodiazepine receptor activity TAS 8391122
genes like me logo Genes that share ontologies with GABRA3: view
genes like me logo Genes that share phenotypes with GABRA3: view

Human Phenotype Ontology for GABRA3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GABRA3 Gene

MGI Knock Outs for GABRA3:

Animal Model Products

  • Taconic Biosciences Mouse Models for GABRA3

miRNA for GABRA3 Gene

miRTarBase miRNAs that target GABRA3

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GABRA3 Gene

Localization for GABRA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRA3 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 GABRA3 Gene COMPARTMENTS Subcellular localization image for GABRA3 gene
Compartment Confidence
plasma membrane 5
cytosol 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GABRA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GABRA3: view

Pathways & Interactions for GABRA3 Gene

genes like me logo Genes that share pathways with GABRA3: view

Interacting Proteins for GABRA3 Gene

Selected Interacting proteins: P34903-GBRA3_HUMAN for GABRA3 Gene via MINT I2D

Gene Ontology (GO) - Biological Process for GABRA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with GABRA3: view

No data available for SIGNOR curated interactions for GABRA3 Gene

Drugs & Compounds for GABRA3 Gene

(104) Drugs for GABRA3 Gene - From: IUPHAR, DGIdb, DrugBank, Tocris, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Flumazenil Approved Pharma Antagonist, Allosteric regulator, antagonist, Target, positive allosteric modulator Benzodiazepine antagonist 24
Flunitrazepam Approved, Illicit Pharma Full agonist, Allosteric regulator, agonist, Target, potentiator 0
Adinazolam Approved Pharma agonist, Target, potentiator 0
Bromazepam Approved, Illicit Pharma binder, Target, potentiator 2
Butabarbital Approved, Illicit Pharma antagonist, Target, positive allosteric modulator 0

(13) Additional Compounds for GABRA3 Gene - From: IUPHAR, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5alpha-pregnan-3alpha-ol-20-one
Potentiation, Allosteric regulator
alpha3IA
Inverse agonist, Allosteric regulator
alpha5IA
Inverse agonist, Allosteric regulator
Ro154513
Inverse agonist, Allosteric regulator
Ro194603
Inverse agonist, Allosteric regulator

(5) Tocris Compounds for GABRA3 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
genes like me logo Genes that share compounds with GABRA3: view

Transcripts for GABRA3 Gene

mRNA/cDNA for GABRA3 Gene

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

Unigene Clusters for GABRA3 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GABRA3 Gene

No ASD Table

Relevant External Links for GABRA3 Gene

GeneLoc Exon Structure for
GABRA3
ECgene alternative splicing isoforms for
GABRA3

Expression for GABRA3 Gene

mRNA expression in normal human tissues for GABRA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GABRA3 Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x9.9), Brain - Frontal Cortex (BA9) (x8.1), Brain - Hypothalamus (x7.2), Brain - Cortex (x6.8), and Brain - Hippocampus (x5.5).

Protein differential expression in normal tissues from HIPED for GABRA3 Gene

This gene is overexpressed in Breast (42.9), Frontal cortex (14.4), and Fetal Brain (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GABRA3 Gene



SOURCE GeneReport for Unigene cluster for GABRA3 Gene Hs.123024

genes like me logo Genes that share expression patterns with GABRA3: view

Protein tissue co-expression partners for GABRA3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for GABRA3 Gene

Orthologs for GABRA3 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRA3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GABRA3 35
  • 93.63 (n)
  • 96.95 (a)
GABRA3 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRA3 35
  • 93.63 (n)
  • 97.56 (a)
GABRA3 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabra3 35
  • 91.11 (n)
  • 96.33 (a)
Gabra3 16
Gabra3 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabra3 35
  • 90.51 (n)
  • 96.54 (a)
oppossum
(Monodelphis domestica)
Mammalia GABRA3 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABRA3 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GABRA3 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves GABRA3 35
  • 79.73 (n)
  • 87.39 (a)
GABRA3 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRA3 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabra3 35
  • 73.39 (n)
  • 82.02 (a)
zebrafish
(Danio rerio)
Actinopterygii gabra3 36
  • 82 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8916 37
  • 45 (a)
Grd 37
  • 46 (a)
Grd 35
  • 53.64 (n)
  • 47.27 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011349 35
  • 39.92 (n)
  • 29.63 (a)
worm
(Caenorhabditis elegans)
Secernentea T15B7.16 37
  • 30 (a)
Y71D11A.5 37
  • 28 (a)
Species with no ortholog for GABRA3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 GABRA3 Gene

ENSEMBL:
Gene Tree for GABRA3 (if available)
TreeFam:
Gene Tree for GABRA3 (if available)

Paralogs for GABRA3 Gene

Paralogs for GABRA3 Gene

genes like me logo Genes that share paralogs with GABRA3: view

Variants for GABRA3 Gene

Sequence variations from dbSNP and Humsavar for GABRA3 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs370977 -- 152,361,686(+) tgtgt(A/G)gccat intron-variant
rs389292 -- 152,372,982(+) CAGTC(C/T)TTCTT intron-variant
rs411018 -- 152,371,215(-) gagtg(A/G)gagag intron-variant
rs750841 -- 152,297,246(+) AAATT(A/T)ATGTT intron-variant
rs750842 -- 152,297,474(+) CACTC(A/G)TTCTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GABRA3 Gene

Variant ID Type Subtype PubMed ID
nsv516934 CNV Gain+Loss 19592680
nsv513629 CNV Insertion 21212237
esv1157238 CNV Insertion 17803354
esv1092318 CNV Insertion 17803354
esv1010518 CNV Loss 20482838
esv2740614 CNV Deletion 23290073
esv2740615 CNV Deletion 23290073
esv995871 CNV Loss 20482838
esv1338349 CNV Insertion 17803354
nsv508814 CNV Insertion 20534489
esv25153 CNV Loss 19812545
nsv7157 CNV Insertion 18451855

Variation tolerance for GABRA3 Gene

Residual Variation Intolerance Score: 13.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.29; 6.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GABRA3 Gene

HapMap Linkage Disequilibrium report
GABRA3
Human Gene Mutation Database (HGMD)
GABRA3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABRA3 Gene

Disorders for GABRA3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GABRA3 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
thyrotoxic periodic paralysis
  • thyrotoxic hypokalemic periodic paralysis
mucopolysaccharidosis ii
  • deficiency of iduronate-2-sulphatase
rett syndrome
  • rett syndrome, preserved speech variant
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for GABRA3

Genetic Association Database (GAD)
GABRA3
Human Genome Epidemiology (HuGE) Navigator
GABRA3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GABRA3
genes like me logo Genes that share disorders with GABRA3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GABRA3 Gene

Publications for GABRA3 Gene

  1. Association of genetic variants in GABRA3 gene and thyrotoxic hypokalaemic periodic paralysis in Thai population. (PMID: 17970773) Jongjaroenprasert W. … Ongphiphadhanakul B. (Clin. Endocrinol. (Oxf) 2008) 3 23 48 67
  2. GABA(A) receptors as molecular targets of general anesthetics: identification of binding sites provides clues to allosteric modulation. (PMID: 21194017) Olsen R.W. … Li G.D. (Can J Anaesth 2011) 25 26
  3. Searching for perfect sleep: the continuing evolution of GABAA receptor modulators as hypnotics. (PMID: 19942638) Nutt D.J. … Stahl S.M. (J. Psychopharmacol. (Oxford) 2010) 25 26
  4. Atypical behavioural effects of lorazepam: clues to the design of novel therapies? (PMID: 20138190) Giersch A. … Vidailhet P. (Pharmacol. Ther. 2010) 25 26
  5. The point mutation gamma 2F77I changes the potency and efficacy of benzodiazepine site ligands in different GABAA receptor subtypes. (PMID: 20303942) Ramerstorfer J. … Sieghart W. (Eur. J. Pharmacol. 2010) 25 26

Products for GABRA3 Gene

Sources for GABRA3 Gene

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