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Aliases for GABRA3 Gene

Aliases for GABRA3 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Alpha3 Subunit 2 3 5
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 3 2
  • GABA(A) Receptor Subunit Alpha-3 4
  • GABA(A) Receptor, 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 Rett Syndrome. Among its related pathways are Transmission across Chemical Synapses and GABAergic synapse. Gene Ontology (GO) annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRA1.

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

Additional gene information for GABRA3 Gene

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

Genomics for GABRA3 Gene

GeneHancer (GH) Regulatory Elements for GABRA3 Gene

Promoters and enhancers for GABRA3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI152450 Promoter/Enhancer 1 EPDnew ENCODE 550.8 0.0 -41 0.9 ZNF148 CTBP1 GATA2 POLR2A VEZF1 SIN3A PRDM10 GABRA3 PNMA6A KRT8P8
GH0XI152444 Promoter 0.6 EPDnew 550.4 +6.6 6559 0.1 NCOR1 GABRA3 GC0XM152395 MIR105-2
GH0XI152176 Enhancer 1 dbSUPER 0.1 +274.0 274006 2.5 PKNOX1 SMAD1 ATF1 ARNT ZFP64 NCOA2 TCF12 ZNF121 ZNF766 ZNF213 ENSG00000231937 RNU6-764P GABRA3
GH0XI152164 Enhancer 0.8 dbSUPER 0.1 +286.1 286104 2.1 HDAC1 PKNOX1 ARNT TCF12 ZNF766 SMARCA5 ZBTB11 ZEB2 ZNF592 SMARCA4 ENSG00000231937 RNU6-764P GABRA3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GABRA3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GABRA3 gene promoter:

Genomic Locations for GABRA3 Gene

Genomic Locations for GABRA3 Gene
chrX:152,166,234-152,451,359
(GRCh38/hg38)
Size:
285,126 bases
Orientation:
Minus strand
chrX:151,334,706-151,619,831
(GRCh37/hg19)

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

Post-translational modifications for GABRA3 Gene

  • Glycosylation at posLast=6363, isoforms=163, isoforms=176, and isoforms=228

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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted membrane proteins

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:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005254 chloride channel activity IEA --
GO:0005515 protein binding IPI 26613940
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

miRNA for GABRA3 Gene

Clone Products

  • R&D Systems cDNA Clones for GABRA3 (GABA A R alpha 3)

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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 GABRA3 gene
Compartment Confidence
plasma membrane 5
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for GABRA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8391122
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GABRA3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GABRA3 Gene

Pathways & Interactions for GABRA3 Gene

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

Interacting Proteins for GABRA3 Gene

Gene Ontology (GO) - Biological Process for GABRA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 8391122
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007214 gamma-aminobutyric acid signaling pathway TAS,IEA --
GO:0034220 ion transmembrane transport IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Flumazenil Approved Pharma Antagonist, Allosteric regulator, Target, positive allosteric modulator, antagonist Benzodiazepine antagonist 27
Flunitrazepam Approved, Illicit Pharma Full agonist, Allosteric regulator, Target, potentiator, agonist 2
Adinazolam Approved Pharma Target, potentiator, agonist 0
Bromazepam Approved, Illicit, Investigational Pharma Target, potentiator, binder 2
Butabarbital Approved, Illicit Pharma Target, positive allosteric modulator, antagonist 0

(9) Additional Compounds for GABRA3 Gene - From: HMDB and IUPHAR

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

(4) Tocris Compounds for GABRA3 Gene

Compound Action Cas Number
Acamprosate calcium GABA agonist and glutamatergic modulator 77337-73-6
GABA Endogenous agonist 56-12-2
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

(2) 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:

Clone Products

  • R&D Systems cDNA Clones for GABRA3 (GABA A R alpha 3)

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for GABRA3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GABRA3 Gene:

GABRA3

SOURCE GeneReport for Unigene cluster for GABRA3 Gene:

Hs.123024

Evidence on tissue expression from TISSUES for GABRA3 Gene

  • Nervous system(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GABRA3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • hypothalamus
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
  • thyroid
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
Pelvis:
  • pelvis
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with GABRA3: view

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
chimpanzee
(Pan troglodytes)
Mammalia GABRA3 34
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GABRA3 33 34
  • 93.63 (n)
dog
(Canis familiaris)
Mammalia GABRA3 33 34
  • 93.63 (n)
mouse
(Mus musculus)
Mammalia Gabra3 33 16 34
  • 91.11 (n)
rat
(Rattus norvegicus)
Mammalia Gabra3 33
  • 90.51 (n)
oppossum
(Monodelphis domestica)
Mammalia GABRA3 34
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABRA3 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves GABRA3 33 34
  • 79.73 (n)
lizard
(Anolis carolinensis)
Reptilia GABRA3 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabra3 33
  • 73.39 (n)
zebrafish
(Danio rerio)
Actinopterygii gabra3 34
  • 82 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Grd 35 33
  • 53.64 (n)
CG8916 35
  • 45 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011349 33
  • 39.92 (n)
worm
(Caenorhabditis elegans)
Secernentea T15B7.16 35
  • 30 (a)
Y71D11A.5 35
  • 28 (a)
Species where no ortholog for GABRA3 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000016079 -- 152,257,848(-) A/C intron_variant
rs1000021875 -- 152,189,223(-) C/A intron_variant
rs1000024430 -- 152,185,313(-) T/C intron_variant
rs1000030311 -- 152,432,684(-) T/C intron_variant
rs1000047952 -- 152,273,442(-) T/C intron_variant

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

Variant ID Type Subtype PubMed ID
nsv7157 CNV insertion 18451855
nsv516934 CNV gain+loss 19592680
nsv513629 CNV insertion 21212237
nsv508814 CNV insertion 20534489
nsv473459 CNV novel sequence insertion 20440878
nsv1148948 CNV duplication 26484159
nsv1148511 CNV deletion 26484159
nsv1125137 CNV duplication 24896259
esv995871 CNV loss 20482838
esv3575001 CNV loss 25503493
esv3559481 CNV deletion 23714750
esv2740615 CNV deletion 23290073
esv2740614 CNV deletion 23290073
esv25153 CNV loss 19812545
esv1338349 CNV insertion 17803354
esv1157238 CNV insertion 17803354
esv1092318 CNV insertion 17803354
esv1010518 CNV loss 20482838
dgv2534e212 CNV loss 25503493
dgv2533e212 CNV loss 25503493
dgv2532e212 CNV loss 25503493

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)

Additional Variant Information for GABRA3 Gene

Human Gene Mutation Database (HGMD)
GABRA3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABRA3

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

Disorders for GABRA3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
thyrotoxic periodic paralysis
  • thyrotoxic hypokalemic periodic paralysis
rett syndrome
  • rtt
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GABRA3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 study between GABA receptor genes and anxiety spectrum disorders. (PMID: 19842164) Pham X … Hettema JM (Depression and anxiety 2009) 3 22 44 58
  2. Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia. (PMID: 18334916) Inada T … Arinami T (Pharmacogenetics and genomics 2008) 3 22 44 58
  3. Association of genetic variants in GABRA3 gene and thyrotoxic hypokalaemic periodic paralysis in Thai population. (PMID: 17970773) Jongjaroenprasert W … Ongphiphadhanakul B (Clinical endocrinology 2008) 3 22 44 58
  4. Lack of association between polymorphic variations in the alpha 3 subunit GABA receptor gene (GABRA3) and suicide attempts. (PMID: 14751442) Baca-Garcia E … de Leon J (Progress in neuro-psychopharmacology & biological psychiatry 2004) 3 22 44 58
  5. Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy. (PMID: 26613940) Dejanovic B … Schwarz G (EMBO molecular medicine 2015) 3 4 58

Products for GABRA3 Gene

Sources for GABRA3 Gene

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