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Aliases for GABRA4 Gene

Aliases for GABRA4 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Alpha4 Subunit 2 3
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 4 2 5
  • GABA(A) Receptor Subunit Alpha-4 4
  • GABA(A) Receptor 2
  • Alpha 4 2

External Ids for GABRA4 Gene

Previous GeneCards Identifiers for GABRA4 Gene

  • GC04M047001
  • GC04M047239
  • GC04M046778
  • GC04M046761
  • GC04M046615
  • GC04M046239

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 Type A Receptor Alpha4 Subunit) is a Protein Coding gene. Diseases associated with GABRA4 include status epilepticus and schizophrenia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Circadian entrainment. 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 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 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 GABRA4 Gene

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

Genomics for GABRA4 Gene

Regulatory Elements for GABRA4 Gene

Genomic Location for GABRA4 Gene

Chromosome:
4
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

Genes around GABRA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABRA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Glycosylation at Asn 47, Asn 144, and Asn 157
  • Modification sites at PhosphoSitePlus

Other Protein References for GABRA4 Gene

Antibody Products

  • R&D Systems Antibodies for GABRA4 (GABA-A R alpha 4)

No data available for DME Specific Peptides for GABRA4 Gene

Domains & Families for GABRA4 Gene

Gene Families for GABRA4 Gene

Suggested Antigen Peptide Sequences for GABRA4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P48169

UniProtKB/Swiss-Prot:

GBRA4_HUMAN :
  • 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.
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.
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 contributes_to GABA-A receptor activity IBA --
GO:0008503 benzodiazepine receptor activity TAS 8719416
genes like me logo Genes that share ontologies with GABRA4: view
genes like me logo Genes that share phenotypes with GABRA4: view

Animal Models for GABRA4 Gene

MGI Knock Outs for GABRA4:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GABRA4: view

Pathways & Interactions 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:0006811 ion transport IEA --
GO:0007214 gamma-aminobutyric acid signaling pathway IEA --
GO:0007417 central nervous system development IEA --
GO:0055085 transmembrane transport TAS --
GO:1902476 chloride transmembrane transport IEA --
genes like me logo Genes that share ontologies with GABRA4: view

No data available for SIGNOR curated interactions for GABRA4 Gene

Drugs & Compounds for GABRA4 Gene

(83) Drugs for GABRA4 Gene - From: IUPHAR, DGIdb, DrugBank, ApexBio, Tocris, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bromazepam Approved, Illicit Pharma binder, Target, potentiator 2
Butabarbital Approved, Illicit Pharma antagonist, Target, positive allosteric modulator 0
Butalbital Approved, Illicit Pharma antagonist, Target, Target, potentiator, positive allosteric modulator 0
Butethal Approved, Illicit Pharma antagonist, Target, potentiator 0
Chlordiazepoxide Approved, Illicit Pharma agonist, Target, positive allosteric modulator 4

(10) Additional Compounds for GABRA4 Gene - From: IUPHAR, Tocris, Novoseek, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
gaba
56-12-2
5alpha-pregnan-3alpha-ol-20-one
Potentiation, Allosteric regulator
Ro154513
Inverse agonist, Allosteric regulator
THIP
Agonist
3'-Hydroxyhexobarbital
427-29-2
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:

Inhibitory RNA Products

Flow Cytometry Products

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) (x8.6), Brain - Caudate (basal ganglia) (x7.4), Brain - Putamen (basal ganglia) (x6.9), Brain - Frontal Cortex (BA9) (x5.8), Brain - Anterior cingulate cortex (BA24) (x5.3), and Brain - Cortex (x4.1).

Protein differential expression in normal tissues from HIPED for GABRA4 Gene

This gene is overexpressed in Frontal cortex (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GABRA4: view

Protein tissue co-expression partners for GABRA4 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for GABRA4 Gene

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 35
  • 99.58 (n)
  • 100 (a)
GABRA4 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GABRA4 36
  • 94 (a)
OneToOne
GABRA4 35
  • 92.06 (n)
  • 93.86 (a)
dog
(Canis familiaris)
Mammalia GABRA4 35
  • 91.37 (n)
  • 94.29 (a)
GABRA4 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabra4 16
Gabra4 35
  • 87.3 (n)
  • 90.93 (a)
Gabra4 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GABRA4 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABRA4 36
  • 54 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabra4 35
  • 86.45 (n)
  • 89.84 (a)
chicken
(Gallus gallus)
Aves GABRA4 35
  • 78.68 (n)
  • 81.34 (a)
GABRA4 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRA4 36
  • 87 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii GABRA4 36
  • 85 (a)
OneToOne
zgc:110204 35
  • 67.17 (n)
  • 74.06 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8916 37
  • 42 (a)
Grd 37
  • 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
VAR_036032 A breast cancer sample
VAR_046552 -
VAR_046553 -
rs713287 -- 46,938,359(-) ATAGG(A/G)TTGGC intron-variant
rs997070 -- 46,957,091(+) TCACT(A/G)AGCAC 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

Variation tolerance for GABRA4 Gene

Residual Variation Intolerance Score: 13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.30; 90.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GABRA4 Gene

HapMap Linkage Disequilibrium report
GABRA4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABRA4 Gene

Disorders for GABRA4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GABRA4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
status epilepticus
  • gcse
schizophrenia
  • schizophrenia 12
nicotine dependence, protection against
  • nicotine dependence
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for GABRA4

Genetic Association Database (GAD)
GABRA4
Human Genome Epidemiology (HuGE) Navigator
GABRA4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GABRA4
genes like me logo Genes that share disorders with GABRA4: view

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

Publications for GABRA4 Gene

  1. 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 67
  2. GABA(A) receptors as molecular targets of general anesthetics: identification of binding sites provides clues to allosteric modulation. (PMID: 21194017) Olsen R.W. … Li G.D. (Can J Anaesth 2011) 25 26
  3. Reduced GABAA receptors and benzodiazepine binding sites in the posterior cingulate cortex and fusiform gyrus in autism. (PMID: 20858465) Oblak A.L. … Blatt G.J. (Brain Res. 2011) 25 26
  4. Atypical behavioural effects of lorazepam: clues to the design of novel therapies? (PMID: 20138190) Giersch A. … Vidailhet P. (Pharmacol. Ther. 2010) 25 26
  5. Benzodiazepine modulation of the rat GABAA receptor I+4I^3I^2L subtype expressed in Xenopus oocytes. (PMID: 20638393) You H. … Dunn S.M. (Neuropharmacology 2010) 25 26

Products for GABRA4 Gene

Sources for GABRA4 Gene

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