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Aliases for GABRA5 Gene

Aliases for GABRA5 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Alpha5 Subunit 2 3 5
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 5 2
  • GABA(A) Receptor Subunit Alpha-5 4
  • GABA(A) Receptor, Alpha 5 2

External Ids for GABRA5 Gene

Previous GeneCards Identifiers for GABRA5 Gene

  • GC15P023334
  • GC15P020091
  • GC15P024593
  • GC15P024722
  • GC15P024663
  • GC15P027112
  • GC15P005288

Summaries for GABRA5 Gene

Entrez Gene Summary for GABRA5 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. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for GABRA5 Gene

GABRA5 (Gamma-Aminobutyric Acid Type A Receptor Alpha5 Subunit) is a Protein Coding gene. Diseases associated with GABRA5 include Angelman Syndrome and Childhood Absence Epilepsy. Among its related pathways are Transmission across Chemical Synapses and GABAergic synapse. Gene Ontology (GO) annotations related to this gene include receptor activity and chloride channel activity. An important paralog of this gene is GABRA2.

UniProtKB/Swiss-Prot for GABRA5 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 GABRA5 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 GABRA5 Gene

Additional gene information for GABRA5 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABRA5 Gene

Genomics for GABRA5 Gene

GeneHancer (GH) Regulatory Elements for GABRA5 Gene

Promoters and enhancers for GABRA5 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
GH15I026866 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 563.7 +1.0 1042 2.5 CTCF SIN3A RAD21 PATZ1 POU5F1 FOSL2 ZBTB26 EZH2 GABRA5 PIR42395 GABRB3
GH15I026864 Enhancer 0.6 ENCODE 563.5 -1.5 -1474 0.2 CTCF MXI1 ZNF654 USF1 CEBPB USF2 MAX REST CEBPG MNT GABRA5 RPL9P26 GABRB3
GH15I026838 Enhancer 0.5 ENCODE 29.4 -27.4 -27414 0.2 CTCF ZNF341 ZNF143 BACH1 RAD21 GABRA5 RPL9P26 GABRB3 ENSG00000235518
GH15I026891 Enhancer 0.8 Ensembl ENCODE 11.9 +25.3 25343 0.8 CTCF MXI1 PKNOX1 ZNF654 RB1 MAX REST RAD21 SCRT2 ZNF143 GABRA5 PIR42395 GABRB3
GH15I026768 Enhancer 0.5 FANTOM5 dbSUPER 2.2 -97.5 -97455 0.1 GABRB3 GABRA5 RPL9P26 ENSG00000235518
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GABRA5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GABRA5 gene promoter:

Genomic Locations for GABRA5 Gene

Genomic Locations for GABRA5 Gene
chr15:26,866,363-26,949,210
(GRCh38/hg38)
Size:
82,848 bases
Orientation:
Plus strand
chr15:27,111,510-27,194,357
(GRCh37/hg19)

Genomic View for GABRA5 Gene

Genes around GABRA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABRA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRA5 Gene

Proteins for GABRA5 Gene

  • Protein details for GABRA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P31644-GBRA5_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit alpha-5
    Protein Accession:
    P31644
    Secondary Accessions:
    • A8K338
    • Q14DC2
    • Q53XL6
    • Q9NYT3
    • Q9NYT4
    • Q9NYT5

    Protein attributes for GABRA5 Gene

    Size:
    462 amino acids
    Molecular mass:
    52146 Da
    Quaternary structure:
    • Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.

    Three dimensional structures from OCA and Proteopedia for GABRA5 Gene

neXtProt entry for GABRA5 Gene

Post-translational modifications for GABRA5 Gene

  • Ubiquitination at isoforms=355
  • Glycosylation at isoforms=45, isoforms=145, isoforms=207, and posLast=236236
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GABRA5 Gene

Domains & Families for GABRA5 Gene

Gene Families for GABRA5 Gene

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

Suggested Antigen Peptide Sequences for GABRA5 Gene

Graphical View of Domain Structure for InterPro Entry

P31644

UniProtKB/Swiss-Prot:

GBRA5_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA5 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. GABRA5 sub-subfamily.
genes like me logo Genes that share domains with GABRA5: view

Function for GABRA5 Gene

Molecular function for GABRA5 Gene

GENATLAS Biochemistry:
gamma-aminobutyric acid (GABA) A receptor,ionotropic,alpha 5,mainly expressed in the brain,with three isoforms,region specific,may be involved in the susceptibility to bipolar affective disorder (? MAFD10),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 GABRA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity TAS 1321750
GO:0004890 contributes_to GABA-A receptor activity IBA --
GO:0005215 transporter activity TAS 1321750
GO:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
genes like me logo Genes that share ontologies with GABRA5: view
genes like me logo Genes that share phenotypes with GABRA5: view

Animal Models for GABRA5 Gene

MGI Knock Outs for GABRA5:

Animal Model Products

Clone Products

  • R&D Systems cDNA Clones for GABRA5 (GABA-A R alpha 5)

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GABRA5 Gene

Localization for GABRA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRA5 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 GABRA5 gene
Compartment Confidence
plasma membrane 5
extracellular 2
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GABRA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 1321750
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GABRA5: view

Pathways & Interactions for GABRA5 Gene

genes like me logo Genes that share pathways with GABRA5: view

Gene Ontology (GO) - Biological Process for GABRA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001662 behavioral fear response IEA --
GO:0006810 transport TAS 1321750
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007165 signal transduction TAS 1321750
genes like me logo Genes that share ontologies with GABRA5: view

No data available for SIGNOR curated interactions for GABRA5 Gene

Drugs & Compounds for GABRA5 Gene

(111) Drugs for GABRA5 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, Target, antagonist, positive allosteric modulator 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

(11) Additional Compounds for GABRA5 Gene - From: HMDB, IUPHAR, and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>3</sup>H]RY80
5alpha-pregnan-3alpha-ol-20-one
Potentiation, Allosteric regulator
alpha3IA
Inverse agonist, Allosteric regulator
alpha5IA
Inverse agonist, Allosteric regulator
Ro154513
Inverse agonist, Allosteric regulator

(4) Tocris Compounds for GABRA5 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 GABRA5: view

Transcripts for GABRA5 Gene

Unigene Clusters for GABRA5 Gene

Gamma-aminobutyric acid (GABA) A receptor, alpha 5:
Representative Sequences:

Clone Products

  • R&D Systems cDNA Clones for GABRA5 (GABA-A R alpha 5)

Alternative Splicing Database (ASD) splice patterns (SP) for GABRA5 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13
SP1: - - - -
SP2: - -
SP3: - - - - -
SP4: -
SP5: - - - - - -
SP6:

Relevant External Links for GABRA5 Gene

GeneLoc Exon Structure for
GABRA5
ECgene alternative splicing isoforms for
GABRA5

Expression for GABRA5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GABRA5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GABRA5 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x12.7), Brain - Anterior cingulate cortex (BA24) (x6.8), Brain - Hippocampus (x6.1), Brain - Caudate (basal ganglia) (x4.9), Brain - Frontal Cortex (BA9) (x4.4), Brain - Cortex (x4.4), Brain - Amygdala (x4.3), and Brain - Putamen (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for GABRA5 Gene

This gene is overexpressed in Frontal cortex (32.3), Fetal Brain (18.5), and Brain (18.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GABRA5 Gene



Protein tissue co-expression partners for GABRA5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GABRA5 Gene:

GABRA5

SOURCE GeneReport for Unigene cluster for GABRA5 Gene:

Hs.24969

Evidence on tissue expression from TISSUES for GABRA5 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with GABRA5: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GABRA5 Gene

Orthologs for GABRA5 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRA5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GABRA5 34
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABRA5 34
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRA5 33 34
  • 91.56 (n)
cow
(Bos Taurus)
Mammalia GABRA5 33 34
  • 90.09 (n)
mouse
(Mus musculus)
Mammalia Gabra5 33 16 34
  • 87.66 (n)
rat
(Rattus norvegicus)
Mammalia Gabra5 33
  • 87.23 (n)
oppossum
(Monodelphis domestica)
Mammalia GABRA5 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves GABRA5 33 34
  • 79.73 (n)
lizard
(Anolis carolinensis)
Reptilia GABRA5 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabra5 33
  • 72.37 (n)
zebrafish
(Danio rerio)
Actinopterygii gabra5 33 34
  • 72.58 (n)
fruit fly
(Drosophila melanogaster)
Insecta Grd 35
  • 46 (a)
CG8916 35
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea glc-1 35
  • 33 (a)
gbr-5 35
  • 30 (a)
Species where no ortholog for GABRA5 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)
  • 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 GABRA5 Gene

ENSEMBL:
Gene Tree for GABRA5 (if available)
TreeFam:
Gene Tree for GABRA5 (if available)

Paralogs for GABRA5 Gene

Variants for GABRA5 Gene

Sequence variations from dbSNP and Humsavar for GABRA5 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000053755 -- 26,927,019(+) A/G intron_variant
rs1000059583 -- 26,934,116(+) G/A intron_variant
rs1000066454 -- 26,902,859(+) A/C intron_variant
rs1000066966 -- 26,931,739(+) G/A intron_variant
rs1000152265 -- 26,908,667(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GABRA5 Gene

Variant ID Type Subtype PubMed ID
dgv4398n54 CNV gain 21841781
dgv4399n54 CNV gain 21841781
dgv4400n54 CNV gain+loss 21841781
dgv4401n54 CNV loss 21841781
dgv4402n54 CNV gain 21841781
dgv4403n54 CNV gain 21841781
dgv4404n54 CNV gain 21841781
dgv724e212 CNV loss 25503493
esv23657 CNV loss 19812545
esv2668795 CNV deletion 23128226
nsv568620 CNV gain+loss 21841781
nsv568634 CNV loss 21841781

Variation tolerance for GABRA5 Gene

Residual Variation Intolerance Score: 23.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.60; 30.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GABRA5 Gene

Human Gene Mutation Database (HGMD)
GABRA5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABRA5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABRA5 Gene

Disorders for GABRA5 Gene

MalaCards: The human disease database

(8) MalaCards diseases for GABRA5 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GABRA5

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 GABRA5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GABRA5 Gene

Publications for GABRA5 Gene

  1. An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder. (PMID: 16674551) Ashley-Koch AE … Pericak-Vance MA (Annals of human genetics 2006) 3 22 44 58
  2. The GABA type A receptor alpha5 subunit gene is associated with bipolar I disorder. (PMID: 15882799) Otani K … Kuroda S (Neuroscience letters 2005) 3 22 44 58
  3. Human gamma-aminobutyric acid-type A receptor alpha5 subunit gene (GABRA5): characterization and structural organization of the 5' flanking region. (PMID: 9205108) Kim Y … Lalande M (Genomics 1997) 3 4 22 58
  4. FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions. (PMID: 8388764) Knoll JH … Lalande M (Human molecular genetics 1993) 3 4 22 58
  5. Cloning and expression of a cDNA encoding the human GABA-A receptor alpha 5 subunit. (PMID: 1321750) Wingrove P … Whiting P (Biochemical Society transactions 1992) 2 3 4 58

Products for GABRA5 Gene

Sources for GABRA5 Gene

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