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Aliases for GABRA5 Gene

Aliases for GABRA5 Gene

  • Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 5 2 3
  • GABA(A) Receptor Subunit Alpha-5 4
  • GABA(A) Receptor 2
  • 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 (GABA) A Receptor, Alpha 5) is a Protein Coding gene. Diseases associated with GABRA5 include prader-willi syndrome and angelman syndrome. Among its related pathways are Akt Signaling and Apoptosis Pathway. GO annotations related to this gene include receptor activity and chloride channel activity. An important paralog of this gene is GABRA4.

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, responsible for mediating the inhibitory effects of GABA alongside GABAB and GABAC receptors. They are pentameric proteins, consisting of 5 subunits belonging to different families (alpha1-6, beta1-3, gamma1-3, delta, pi, epsilon, rho, theta). The most abundant GABAA receptor in the mammalian brain consist of two copies each of alpha1 and beta2 with a single gamma2 subunits. GABAA receptors contain an integral chloride channel, and have modulatory sites for benzodiazepines, barbiturates, neurosteroids and ethanol.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GABRA5 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for GABRA5 Gene at MOPED

Post-translational modifications for GABRA5 Gene

  • Ubiquitination at Lys355
  • Glycosylation at Asn45, Asn145, Asn207, and Asn236
  • Modification sites at PhosphoSitePlus

Other Protein References for GABRA5 Gene

Antibody Products

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

No data available for DME Specific Peptides for GABRA5 Gene

Domains for GABRA5 Gene

Gene Families for GABRA5 Gene

HGNC:
  • GABR :GABA receptors
  • GABRA :Ligand-gated ion channels / GABA(A) receptors
IUPHAR :

Suggested Antigen Peptide Sequences for GABRA5 Gene

Graphical View of Domain Structure for InterPro Entry

P31644

UniProtKB/Swiss-Prot:

GBRA5_HUMAN :
  • P31644
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 GABA-A receptor activity IEA --
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

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GABRA5

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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 --
GO:0016021 integral component of membrane --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GABRA5: view

Pathways for GABRA5 Gene

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

PCR Array Products

Interacting Proteins for GABRA5 Gene

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:0006811 ion transport --
GO:0006821 chloride transport --
genes like me logo Genes that share ontologies with GABRA5: view

Compounds for GABRA5 Gene

(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]
L-655,708 Selective for alpha5-containing GABAA receptors [130477-52-0]
Muscimol Potent GABAA agonist [2763-96-4]
SR 95531 hydrobromide Selective, competitive GABAA receptor antagonist [104104-50-9]

(2) HMDB Compounds for GABRA5 Gene

Compound Synonyms Cas Number PubMed IDs
Chlorine
  • Cl2
16887-00-6
Gamma-Aminobutyric acid
  • 3-Carboxypropylamine
56-12-2

(45) Drugbank Compounds for GABRA5 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Adinazolam
37115-32-5 target potentiator
Alprazolam
28981-97-7 target potentiator
Amobarbital
57-43-2 target potentiator
Aprobarbital
77-02-1 target potentiator
Barbital
57-44-3 target potentiator

(38) IUPHAR Ligand for GABRA5 Gene

Ligand Type Action Affinity Pubmed IDs
piperidine-4-sulphonic acid Agonist Full agonist
5alpha-pregnan-3alpha-ol-20-one Allosteric regulator Potentiation
[3H]flunitrazepam None None
[35S]TBPS None None
TPA023 Allosteric regulator Antagonist
[3H]muscimol None None
isoguvacine Agonist Full agonist
isonipecotic acid Agonist Full agonist
[11C]flumazenil None None
alpha5IA Allosteric regulator Inverse agonist
DMCM Allosteric regulator Inverse agonist
flunitrazepam Allosteric regulator Full agonist
[18F]fluoroethylflumazenil None None
bretazenil Allosteric regulator Full agonist
[3H]RY80 None None
Ro4938581 Allosteric regulator Inverse agonist
THIP Agonist Agonist
Ro194603 Allosteric regulator Inverse agonist
alpha3IA Allosteric regulator Inverse agonist
L655708 Allosteric regulator Inverse agonist
[3H]L655708 None None
tetrahydrodeoxycorticosterone Allosteric regulator Potentiation
gabazine Antagonist Antagonist
TBPS Channel blocker None
L838417 Allosteric regulator Partial agonist
muscimol Agonist Full agonist
ocinaplon Allosteric regulator Partial agonist
[3H]CGS8216 None None
picrotoxin Channel blocker None
diazepam Allosteric regulator Full agonist
MRK016 Allosteric regulator Inverse agonist
flumazenil Allosteric regulator Partial agonist
RY024 Allosteric regulator Inverse agonist
ZK93426 Allosteric regulator Antagonist
[3H]gabazine None None
TP003 Allosteric regulator Antagonist
Ro154513 Allosteric regulator Full agonist
bicuculline Antagonist Antagonist

(1) Novoseek inferred chemical compound relationships for GABRA5 Gene

Compound -log(P) Hits PubMed IDs
gaba 73.7 11
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GABRA5

Primer Products

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) (12.7), Brain - Anterior cingulate cortex (BA24) (6.8), Brain - Hippocampus (6.1), Brain - Caudate (basal ganglia) (4.9), Brain - Frontal Cortex (BA9) (4.4), Brain - Cortex (4.4), Brain - Amygdala (4.3), and Brain - Putamen (basal ganglia) (4.1).

Protein differential expression in normal tissues for GABRA5 Gene

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GABRA5 Gene

SOURCE GeneReport for Unigene cluster for GABRA5 Gene Hs.24969

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

Expression partners for GABRA5 Gene

In Situ Assay 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 35
  • 90.09 (n)
  • 95.23 (a)
GABRA5 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRA5 35
  • 91.56 (n)
  • 96.75 (a)
GABRA5 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabra5 35
  • 87.66 (n)
  • 95.45 (a)
Gabra5 16
Gabra5 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabra5 35
  • 87.23 (n)
  • 95.02 (a)
oppossum
(Monodelphis domestica)
Mammalia GABRA5 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABRA5 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GABRA5 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves GABRA5 35
  • 79.73 (n)
  • 89.39 (a)
GABRA5 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRA5 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabra5 35
  • 72.37 (n)
  • 82.25 (a)
zebrafish
(Danio rerio)
Actinopterygii gabra5 35
  • 72.58 (n)
  • 80.45 (a)
gabra5 36
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8916 37
  • 43 (a)
Grd 37
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea gbr-5 37
  • 30 (a)
glc-1 37
  • 33 (a)
Species with no ortholog for GABRA5:
  • 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 MAF
rs25410 -- 26,867,015(+) CGGCC(A/G)AGGGC utr-variant-5-prime, upstream-variant-2KB
rs25411 -- 26,867,023(+) GGCGC(A/G)TTTGC utr-variant-5-prime, upstream-variant-2KB
rs140680 -- 26,883,314(+) GACTG(C/T)CTCGT intron-variant
rs140681 -- 26,937,065(+) GTCAT(A/G)GAACC intron-variant
rs140682 -- 26,937,210(+) GTCGT(C/T)TACGT synonymous-codon, reference

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

Variant ID Type Subtype PubMed ID
esv2749487 CNV Deletion 23290073
esv2668795 CNV Deletion 23128226
nsv903729 CNV Loss 21882294
esv23657 CNV Loss 19812545
esv2749488 CNV Deletion 23290073

Relevant External Links for GABRA5 Gene

HapMap Linkage Disequilibrium report
GABRA5

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

Disorders for GABRA5 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for GABRA5 Gene in MalaCards »

(2) Diseases for GABRA5 Gene including...

(3) University of Copenhagen DISEASES for GABRA5 Gene

(5) Novoseek inferred disease relationships for GABRA5 Gene

Disease -log(P) Hits PubMed IDs
angelman syndrome 82.5 1
childhood absence epilepsy 73.7 1
autistic 59.4 1
prader-willi syndrome 56.3 1
bipolar disorder 40 1

Relevant External Links for GABRA5

Genetic Association Database (GAD)
GABRA5
Human Genome Epidemiology (HuGE) Navigator
GABRA5
genes like me logo Genes that share disorders with GABRA5: view

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

Publications for GABRA5 Gene

  1. 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 23
  2. 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 23
  3. The GABA type A receptor alpha5 subunit gene is associated with bipolar I disorder. (PMID: 15882799) Otani K. … Kuroda S. (Neurosci. Lett. 2005) 3 23 48
  4. 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
  5. 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 23 48

Products for GABRA5 Gene

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