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Aliases for GABRA4 Gene

Aliases for GABRA4 Gene

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

External Ids for GABRA4 Gene

Summaries for GABRA4 Gene

Entrez Gene Summary for GABRA4 Gene

  • Gamma-aminobutyric acid (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. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found in this gene.[provided by RefSeq, Feb 2011]

GeneCards Summary for GABRA4 Gene

GABRA4 (Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 4) is a Protein Coding gene. Among its related pathways are Akt Signaling and Apoptosis Pathway. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRG1.

UniProtKB/Swiss-Prot for GABRA4 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 GABRA4 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 GABRA4 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABRA4 Gene

Genomics for GABRA4 Gene

Genomic Location for GABRA4 Gene

Start:
46,918,900 bp from pter
End:
46,994,407 bp from pter
Size:
75,508 bases
Orientation:
Minus strand

Genomic View for GABRA4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GABRA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRA4 Gene

Regulatory Elements for GABRA4 Gene

Proteins for GABRA4 Gene

  • Protein details for GABRA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48169-GBRA4_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit alpha-4
    Protein Accession:
    P48169
    Secondary Accessions:
    • Q8IYR7

    Protein attributes for GABRA4 Gene

    Size:
    554 amino acids
    Molecular mass:
    61623 Da
    Quaternary structure:
    • Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho

neXtProt entry for GABRA4 Gene

Proteomics data for GABRA4 Gene at MOPED

Post-translational modifications for GABRA4 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn47, Asn144, and Asn157

Other Protein References for GABRA4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for GABRA4 Gene

Domains for GABRA4 Gene

Gene Families for GABRA4 Gene

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

UniProtKB/Swiss-Prot:

GBRA4_HUMAN
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA4 sub-subfamily.:
    • P48169
genes like me logo Genes that share domains with GABRA4: view

Function for GABRA4 Gene

Molecular function for GABRA4 Gene

GENATLAS Biochemistry: gamma-aminobutyric acid (GABA) A receptor,ionotropic,alpha 4,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
UniProtKB/Swiss-Prot Induction: The alpha4 beta2 gamma 2L receptor is not repressed by diazepam.

Gene Ontology (GO) - Molecular Function for GABRA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 GABA-A receptor activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005254 chloride channel activity IEA --
GO:0008503 benzodiazepine receptor activity TAS 8719416
genes like me logo Genes that share ontologies with GABRA4: view

Phenotypes for GABRA4 Gene

genes like me logo Genes that share phenotypes with GABRA4: view

Animal Models for GABRA4 Gene

MGI Knock Outs for GABRA4:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for GABRA4 Gene

Localization for GABRA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRA4 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 GABRA4 Gene COMPARTMENTS Subcellular localization image for GABRA4 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GABRA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8719416
GO:0016020 membrane --
GO:0016021 integral component of membrane --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GABRA4: view

Pathways for GABRA4 Gene

genes like me logo Genes that share pathways with GABRA4: view

Gene Ontology (GO) - Biological Process for GABRA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 8719416
GO:0006811 ion transport --
GO:0007214 gamma-aminobutyric acid signaling pathway IEA --
GO:0007268 synaptic transmission TAS --
GO:0007417 central nervous system development IEA --
genes like me logo Genes that share ontologies with GABRA4: view

Compounds for GABRA4 Gene

(5) Tocris Compounds for GABRA4 Gene

Compound Action Cas Number
(-)-Bicuculline methiodide Water-soluble GABAA antagonist [40709-69-1]
(-)-Bicuculline methochloride Water-soluble GABAA antagonist [53552-05-9]
(+)-Bicuculline Potent GABAA antagonist [485-49-4]
Muscimol Potent GABAA agonist [2763-96-4]
SR 95531 hydrobromide Selective, competitive GABAA receptor antagonist [104104-50-9]

(2) HMDB Compounds for GABRA4 Gene

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

(33) Drugbank Compounds for GABRA4 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Alprazolam
28981-97-7 target potentiator
Amobarbital
57-43-2 target potentiator
Aprobarbital
77-02-1 target potentiator
Barbital
57-44-3 target potentiator
Barbituric acid derivative
target potentiator

(20) IUPHAR Ligand for GABRA4 Gene

Ligand Type Action Affinity Pubmed IDs
gabazine Antagonist Antagonist
tetrahydrodeoxycorticosterone Allosteric regulator Potentiation
TBPS Channel blocker None
piperidine-4-sulphonic acid Agonist Full agonist
5alpha-pregnan-3alpha-ol-20-one Allosteric regulator Potentiation
muscimol Agonist Full agonist
[35S]TBPS None None
[3H]CGS8216 None None
[3H]muscimol None None
isoguvacine Agonist Full agonist
isonipecotic acid Agonist Full agonist
[11C]flumazenil None None
flumazenil Allosteric regulator Partial agonist
[3H]gabazine None None
bretazenil Allosteric regulator Full agonist
[18F]fluoroethylflumazenil None None
[3H]Ro154513 None None
Ro154513 Allosteric regulator Full agonist
THIP Agonist Agonist
bicuculline Antagonist Antagonist

(1) Novoseek inferred chemical compound relationships for GABRA4 Gene

Compound -log(P) Hits PubMed IDs
gaba 60.2 2
genes like me logo Genes that share compounds with GABRA4: view

Transcripts for GABRA4 Gene

Unigene Clusters for GABRA4 Gene

Gamma-aminobutyric acid (GABA) A receptor, alpha 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GABRA4 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: -
SP2: - -
SP3: - - -
SP4:

Relevant External Links for GABRA4 Gene

GeneLoc Exon Structure for
GABRA4
ECgene alternative splicing isoforms for
GABRA4

Expression for GABRA4 Gene

mRNA expression in normal human tissues for GABRA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GABRA4 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (8.6), Brain - Caudate (basal ganglia) (7.4), Brain - Putamen (basal ganglia) (6.9), Brain - Frontal Cortex (BA9) (5.8), Brain - Anterior cingulate cortex (BA24) (5.3), and Brain - Cortex (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GABRA4 Gene

SOURCE GeneReport for Unigene cluster for GABRA4 Gene Hs.248112

genes like me logo Genes that share expressions with GABRA4: view

Orthologs for GABRA4 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRA4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GABRA4 36
  • 99.58 (n)
  • 100 (a)
GABRA4 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GABRA4 36
  • 92.06 (n)
  • 93.86 (a)
GABRA4 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRA4 36
  • 91.37 (n)
  • 94.29 (a)
GABRA4 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabra4 36
  • 87.3 (n)
  • 90.93 (a)
Gabra4 16
Gabra4 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GABRA4 37
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABRA4 37
  • 54 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabra4 36
  • 86.45 (n)
  • 89.84 (a)
chicken
(Gallus gallus)
Aves GABRA4 36
  • 78.68 (n)
  • 81.34 (a)
GABRA4 37
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRA4 37
  • 87 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii GABRA4 37
  • 85 (a)
OneToOne
zgc:110204 36
  • 67.17 (n)
  • 74.06 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8916 38
  • 42 (a)
Grd 38
  • 50 (a)
Species with no ortholog for GABRA4:
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GABRA4 Gene

ENSEMBL:
Gene Tree for GABRA4 (if available)
TreeFam:
Gene Tree for GABRA4 (if available)

Paralogs for GABRA4 Gene

Paralogs for GABRA4 Gene

genes like me logo Genes that share paralogs with GABRA4: view

Variants for GABRA4 Gene

Sequence variations from dbSNP and Humsavar for GABRA4 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs713287 -- 46,938,359(-) ATAGG(A/G)TTGGC intron-variant
rs871206 -- 46,960,164(-) TTCCT(C/T)AAATT intron-variant
rs871207 -- 46,960,064(-) CTTTC(C/T)TTCTT intron-variant
rs871208 -- 46,959,838(-) ACACA(C/T)ACATA intron-variant
rs871209 -- 46,959,836(-) ACACA(C/T)ATATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GABRA4 Gene

Variant ID Type Subtype PubMed ID
nsv879002 CNV Loss 21882294
nsv470031 CNV Gain 18288195

Relevant External Links for GABRA4 Gene

HapMap Linkage Disequilibrium report
GABRA4

Disorders for GABRA4 Gene

(2) University of Copenhagen DISEASES for GABRA4 Gene

(2) Novoseek inferred disease relationships for GABRA4 Gene

Disease -log(P) Hits PubMed IDs
status epilepticus 56.5 2
epilepsy 28 2

Relevant External Links for GABRA4

Genetic Association Database (GAD)
GABRA4
Human Genome Epidemiology (HuGE) Navigator
GABRA4
genes like me logo Genes that share disorders with GABRA4: view

No data available for UniProtKB/Swiss-Prot for GABRA4 Gene

Publications for GABRA4 Gene

  1. Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. (PMID: 16080114) Ma D.Q. … Pericak-Vance M.A. (Am. J. Hum. Genet. 2005) 3 23 49
  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. (Pharmacogenet. Genomics 2008) 3 23 49
  3. Mapping of the alpha 4 subunit gene (GABRA4) to human chromosome 4 defines an alpha 2-alpha 4-beta 1-gamma 1 gene cluster: further evidence that modern GABAA receptor gene clusters are derived from an ancestral cluster. (PMID: 7607683) McLean P.J. … Russek S.J. (Genomics 1995) 2 3 4
  4. Cloning and characterization of the human GABAA receptor alpha 4 subunit: identification of a unique diazepam-insensitive binding site. (PMID: 8719416) Yang W. … Lan N.C. (Eur. J. Pharmacol. 1995) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for GABRA4 Gene

Sources for GABRA4 Gene

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