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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 Prader-Willi Syndrome. Among its related pathways are Peptide ligand-binding receptors and Circadian entrainment. GO annotations related to this gene include receptor activity and chloride channel activity. An important paralog of this gene is GABRA1.

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

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

Genomics for GABRA5 Gene

Regulatory Elements for GABRA5 Gene

Enhancers for GABRA5 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around GABRA5 on UCSC Golden Path with GeneCards custom track

Promoters for GABRA5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for GABRA5 Gene

Chromosome:
15
Start:
26,866,363 bp from pter
End:
26,949,210 bp from pter
Size:
82,848 bases
Orientation:
Plus strand

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.

neXtProt entry for GABRA5 Gene

Post-translational modifications for GABRA5 Gene

  • Ubiquitination at Lys 355
  • Glycosylation at Asn 45, Asn 145, Asn 207, and Asn 236
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GABRA5 Gene

Domains & Families for GABRA5 Gene

Gene Families for GABRA5 Gene

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:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005254 chloride 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

  • Taconic Biosciences Mouse Models for GABRA5

CRISPR Products

Inhibitory RNA Products

Clone Products

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

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for GABRA5 Gene COMPARTMENTS Subcellular localization image for GABRA5 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GABRA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 1321750
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
GO:0030425 dendrite 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:0002230 positive regulation of defense response to virus by host IMP 22020285
GO:0006810 transport TAS 1321750
GO:0007165 signal transduction TAS 1321750
GO:0007214 gamma-aminobutyric acid signaling pathway IEA --
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

(108) Drugs for GABRA5 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Flumazenil Approved Pharma Antagonist, Allosteric regulator, antagonist, Target, Target, positive allosteric modulator Benzodiazepine antagonist 25
Flunitrazepam Approved, Illicit Pharma Full agonist, Allosteric regulator, agonist, Target, potentiator 2
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

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

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

(5) Tocris Compounds for GABRA5 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
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

Flow Cytometry Products

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 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
genes like me logo Genes that share expression patterns with GABRA5: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia GABRA5 34
  • 90.09 (n)
  • 95.23 (a)
GABRA5 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRA5 34
  • 91.56 (n)
  • 96.75 (a)
GABRA5 35
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabra5 34
  • 87.66 (n)
  • 95.45 (a)
Gabra5 16
Gabra5 35
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabra5 34
  • 87.23 (n)
  • 95.02 (a)
oppossum
(Monodelphis domestica)
Mammalia GABRA5 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABRA5 35
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GABRA5 35
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves GABRA5 34
  • 79.73 (n)
  • 89.39 (a)
GABRA5 35
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRA5 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabra5 34
  • 72.37 (n)
  • 82.25 (a)
zebrafish
(Danio rerio)
Actinopterygii gabra5 34
  • 72.58 (n)
  • 80.45 (a)
gabra5 35
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8916 36
  • 43 (a)
Grd 36
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea gbr-5 36
  • 30 (a)
glc-1 36
  • 33 (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

Paralogs for GABRA5 Gene

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

Variants for GABRA5 Gene

Sequence variations from dbSNP and Humsavar for GABRA5 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs3924356 -- 26,881,292(+) AGGAA(C/G)CAGCT intron-variant
rs4073083 -- 26,909,926(-) TTCCT(C/T)ATTCT intron-variant
rs4132414 -- 26,905,632(-) aagac(A/C)ccatc intron-variant
rs4132415 -- 26,905,591(-) ccaga(A/C)caaga intron-variant
rs4132416 -- 26,905,569(-) aaggg(A/C)cagaa 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)

Relevant External Links for GABRA5 Gene

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

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

Disorder Aliases PubMed IDs
angelman syndrome
  • as
prader-willi syndrome
  • prader willi syndrome
childhood absence epilepsy
  • absence seizure
autistic disorder
  • autism
focal epilepsy
  • localisation-related epilepsy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for GABRA5

Genetic Association Database (GAD)
GABRA5
Human Genome Epidemiology (HuGE) Navigator
GABRA5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GABRA5
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 A.E. … Pericak-Vance M.A. (Ann. Hum. Genet. 2006) 3 22 46 65
  2. The GABA type A receptor alpha5 subunit gene is associated with bipolar I disorder. (PMID: 15882799) Otani K. … Kuroda S. (Neurosci. Lett. 2005) 3 22 46 65
  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 65
  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 J.H. … Lalande M. (Hum. Mol. Genet. 1993) 3 4 22 65
  5. Cloning and expression of a cDNA encoding the human GABA-A receptor alpha 5 subunit. (PMID: 1321750) Wingrove P. … Whiting P. (Biochem. Soc. Trans. 1992) 2 3 4 65

Products for GABRA5 Gene

Sources for GABRA5 Gene

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