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Aliases for GABRA2 Gene

Aliases for GABRA2 Gene

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

External Ids for GABRA2 Gene

Summaries for GABRA2 Gene

Entrez Gene Summary for GABRA2 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

GeneCards Summary for GABRA2 Gene

GABRA2 (Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 2) is a Protein Coding gene. Diseases associated with GABRA2 include alcohol dependence and cannabis dependence. 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 GABRA4.

UniProtKB/Swiss-Prot for GABRA2 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 GABRA2 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 GABRA2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABRA2 Gene

Genomics for GABRA2 Gene

Genomic Location for GABRA2 Gene

Start:
46,244,453 bp from pter
End:
46,475,230 bp from pter
Size:
230,778 bases
Orientation:
Minus strand

Genomic View for GABRA2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GABRA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRA2 Gene

Regulatory Elements for GABRA2 Gene

Proteins for GABRA2 Gene

  • Protein details for GABRA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P47869-GBRA2_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit alpha-2
    Protein Accession:
    P47869
    Secondary Accessions:
    • A8K0U7
    • B7Z1H8
    • Q59G14

    Protein attributes for GABRA2 Gene

    Size:
    451 amino acids
    Molecular mass:
    51326 Da
    Quaternary structure:
    • Binds UBQLN1 (By similarity). Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.
    SequenceCaution:
    • Sequence=BAD92532.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for GABRA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GABRA2 Gene

Proteomics data for GABRA2 Gene at MOPED

Post-translational modifications for GABRA2 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn38 and Asn138

No data available for DME Specific Peptides for GABRA2 Gene

Domains for GABRA2 Gene

Gene Families for GABRA2 Gene

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

UniProtKB/Swiss-Prot:

GBRA2_HUMAN
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA2 sub-subfamily.:
    • P47869
genes like me logo Genes that share domains with GABRA2: view

Function for GABRA2 Gene

Molecular function for GABRA2 Gene

GENATLAS Biochemistry: gamma-aminobutyric acid (GABA) A receptor,ionotropic,alpha 2,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 GABRA2 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 IMP 8391122
genes like me logo Genes that share ontologies with GABRA2: view
genes like me logo Genes that share phenotypes with GABRA2: view

Animal Models for GABRA2 Gene

MGI Knock Outs for GABRA2:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for GABRA2 Gene

Localization for GABRA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRA2 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 GABRA2 Gene COMPARTMENTS Subcellular localization image for GABRA2 gene
Compartment Confidence
plasma membrane 5
peroxisome 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GABRA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane --
GO:0016021 integral component of membrane --
GO:0030054 cell junction IEA --
GO:0030285 integral component of synaptic vesicle membrane IDA 8391122
genes like me logo Genes that share ontologies with GABRA2: view

Pathways for GABRA2 Gene

genes like me logo Genes that share pathways with GABRA2: view

Interacting Proteins for GABRA2 Gene

Gene Ontology (GO) - Biological Process for GABRA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001505 regulation of neurotransmitter levels IMP 8391122
GO:0006810 transport --
GO:0006811 ion transport --
GO:0006821 chloride transport --
GO:0006836 neurotransmitter transport IMP 8391122
genes like me logo Genes that share ontologies with GABRA2: view

Compounds for GABRA2 Gene

(5) Tocris Compounds for GABRA2 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 GABRA2 Gene

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

(46) Drugbank Compounds for GABRA2 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

(34) IUPHAR Ligand for GABRA2 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
Ro4938581 Allosteric regulator Inverse agonist
THIP Agonist Agonist
Ro194603 Allosteric regulator Inverse agonist
alpha3IA Allosteric regulator Inverse agonist
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
ZK93426 Allosteric regulator Antagonist
[3H]gabazine None None
TP003 Allosteric regulator Antagonist
Ro154513 Allosteric regulator Full agonist
bicuculline Antagonist Antagonist
genes like me logo Genes that share compounds with GABRA2: view

Transcripts for GABRA2 Gene

Unigene Clusters for GABRA2 Gene

Gamma-aminobutyric acid (GABA) A receptor, alpha 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GABRA2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b
SP1: - -
SP2: - - -
SP3: - - -
SP4: - - - -
SP5: - - - -
SP6: - - - -
SP7: - - - -
SP8: - - - - -
SP9: - - - - -
SP10: - - - - - -
SP11: - - - - - -
SP12: - - - - - -
SP13: -
SP14: - - - - - - - - -

Relevant External Links for GABRA2 Gene

GeneLoc Exon Structure for
GABRA2
ECgene alternative splicing isoforms for
GABRA2

Expression for GABRA2 Gene

mRNA expression in normal human tissues for GABRA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GABRA2 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (6.2), Brain - Caudate (basal ganglia) (5.8), Brain - Amygdala (5.8), Brain - Frontal Cortex (BA9) (5.6), Brain - Anterior cingulate cortex (BA24) (5.3), Brain - Putamen (basal ganglia) (5.1), and Brain - Cortex (4.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GABRA2 Gene

SOURCE GeneReport for Unigene cluster for GABRA2 Gene Hs.116250

genes like me logo Genes that share expressions with GABRA2: view

Orthologs for GABRA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GABRA2 36
  • 99.33 (n)
  • 100 (a)
GABRA2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GABRA2 36
  • 94.46 (n)
  • 98.89 (a)
GABRA2 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRA2 36
  • 91.2 (n)
  • 94.68 (a)
GABRA2 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabra2 36
  • 90.84 (n)
  • 97.78 (a)
Gabra2 16
Gabra2 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GABRA2 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABRA2 37
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabra2 36
  • 89.73 (n)
  • 97.34 (a)
chicken
(Gallus gallus)
Aves GABRA2 36
  • 83.67 (n)
  • 93.65 (a)
GABRA2 37
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRA2 37
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabra2 36
  • 76.59 (n)
  • 87.05 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7711 36
zebrafish
(Danio rerio)
Actinopterygii CABZ01072856.1 37
  • 83 (a)
OneToMany
GABRA2 (2 of 3) 37
  • 77 (a)
OneToMany
GABRA2 (3 of 3) 37
  • 87 (a)
OneToMany
LOC100150704 36
  • 72.8 (n)
  • 86.25 (a)
fruit fly
(Drosophila melanogaster)
Insecta Grd 38
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea glc-4 38
  • 34 (a)
F09G2.5 38
  • 26 (a)
glc-1 38
  • 33 (a)
gbr-5 38
  • 33 (a)
Species with no ortholog for GABRA2:
  • 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)
  • 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 GABRA2 Gene

ENSEMBL:
Gene Tree for GABRA2 (if available)
TreeFam:
Gene Tree for GABRA2 (if available)

Paralogs for GABRA2 Gene

Paralogs for GABRA2 Gene

genes like me logo Genes that share paralogs with GABRA2: view

Variants for GABRA2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for GABRA2 Gene

P47869-GBRA2_HUMAN
Genetic variations in GABRA2 determine the genetic susceptibility to alcoholism [MIM:103780]

Sequence variations from dbSNP and Humsavar for GABRA2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs166786 -- 46,329,680(+) TGTTT(A/T)AAAAA intron-variant
rs172156 -- 46,324,972(+) accga(C/T)gggca intron-variant
rs175929 -- 46,336,131(+) actac(A/G)atgtc intron-variant
rs175930 -- 46,328,960(+) AGCAC(C/T)ATCTT intron-variant
rs175931 -- 46,314,306(-) TGAAG(A/T)TTTAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GABRA2 Gene

Variant ID Type Subtype PubMed ID
nsv527418 CNV Loss 19592680
esv2641107 CNV Deletion 19546169

Relevant External Links for GABRA2 Gene

HapMap Linkage Disequilibrium report
GABRA2

Disorders for GABRA2 Gene

(1) OMIM Diseases for GABRA2 Gene (137140)

(3) University of Copenhagen DISEASES for GABRA2 Gene

Relevant External Links for GABRA2

Genetic Association Database (GAD)
GABRA2
Human Genome Epidemiology (HuGE) Navigator
GABRA2
genes like me logo Genes that share disorders with GABRA2: view

No data available for UniProtKB/Swiss-Prot for GABRA2 Gene

Publications for GABRA2 Gene

  1. GABA-A2 receptor subunit gene (GABRA2) polymorphisms and risk for alcohol dependence. (PMID: 17207817) Soyka M. … Bondy B. (J Psychiatr Res 2008) 3 23 49
  2. Variations in GABRA2, encoding the alpha 2 subunit of the GABA(A) receptor, are associated with alcohol dependence and with brain oscillations. (PMID: 15024690) Edenberg H.J. … Begleiter H. (Am. J. Hum. Genet. 2004) 3 4 49
  3. Cloning of cDNA sequences encoding human alpha 2 and alpha 3 gamma- aminobutyric acidA receptor subunits and characterization of the benzodiazepine pharmacology of recombinant alpha 1-, alpha 2-, alpha 3-, and alpha 5-containing human gamma-aminobutyric acidA receptors. (PMID: 8391122) Hadingham K.L. … Whiting P.J. (Mol. Pharmacol. 1993) 3 4
  4. 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 49
  5. Confirmation of association of the GABRA2 gene with alcohol dependence by subtype-specific analysis. (PMID: 16395124) Fehr C. … Szegedi A. (Psychiatr. Genet. 2006) 3 49

Products for GABRA2 Gene

Sources for GABRA2 Gene

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