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Aliases for GABRA2 Gene

Aliases for GABRA2 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Alpha2 Subunit 2 3
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 2 2 5
  • GABA(A) Receptor Subunit Alpha-2 4
  • GABA(A) Receptor 2
  • Alpha 2 2

External Ids for GABRA2 Gene

Previous GeneCards Identifiers for GABRA2 Gene

  • GC04M046323
  • GC04M046561
  • GC04M046101
  • GC04M046092
  • GC04M045946
  • GC04M045569

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 Type A Receptor Alpha2 Subunit) is a Protein Coding gene. Diseases associated with GABRA2 include Alcohol Dependence. Among its related pathways are Apoptosis Pathway and Transmission across Chemical Synapses. 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 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 GABRA2 Gene

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

Genomics for GABRA2 Gene

Regulatory Elements for GABRA2 Gene

Enhancers for GABRA2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GABRA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GABRA2 Gene

Chromosome:
4
Start:
46,243,548 bp from pter
End:
46,475,230 bp from pter
Size:
231,683 bases
Orientation:
Minus strand

Genomic View for GABRA2 Gene

Genes around GABRA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABRA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Glycosylation at Asn 38 and Asn 138
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for GABRA2 (GABA-A R alpha 2)

No data available for DME Specific Peptides for GABRA2 Gene

Domains & Families for GABRA2 Gene

Gene Families for GABRA2 Gene

Graphical View of Domain Structure for InterPro Entry

P47869

UniProtKB/Swiss-Prot:

GBRA2_HUMAN :
  • 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.
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.
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: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:

Animal Model Products

  • Taconic Biosciences Mouse Models for GABRA2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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:0016021 integral component of membrane IEA --
GO:0034707 chloride channel complex IEA --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with GABRA2: view

Pathways & Interactions 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:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007214 gamma-aminobutyric acid signaling pathway IEA,IMP 8391122
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with GABRA2: view

No data available for SIGNOR curated interactions for GABRA2 Gene

Drugs & Compounds for GABRA2 Gene

(105) Drugs for GABRA2 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, positive allosteric modulator Benzodiazepine antagonist 24
Flunitrazepam Approved, Illicit Pharma Full agonist, Allosteric regulator, agonist, Target, potentiator 0
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

(13) Additional Compounds for GABRA2 Gene - From: IUPHAR, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5alpha-pregnan-3alpha-ol-20-one
Potentiation, Allosteric regulator
alpha3IA
Inverse agonist, Allosteric regulator
alpha5IA
Inverse agonist, Allosteric regulator
Ro154513
Inverse agonist, Allosteric regulator
Ro194603
Inverse agonist, Allosteric regulator

(5) Tocris Compounds for GABRA2 Gene

Compound Action Cas Number
GABA Endogenous agonist 56-12-2
Isoguvacine hydrochloride Selective GABAA agonist 68547-97-7
Muscimol Potent GABAA agonist 2763-96-4
TACA GABAA agonist. Also GABA-T substrate and GABA uptake inhibitor 38090-53-8
ZAPA sulfate Agonist at 'low affinity' GABAA receptor. More potent than GABA/muscimol 371962-01-5
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) (x6.2), Brain - Caudate (basal ganglia) (x5.8), Brain - Amygdala (x5.8), Brain - Frontal Cortex (BA9) (x5.6), Brain - Anterior cingulate cortex (BA24) (x5.3), Brain - Putamen (basal ganglia) (x5.1), and Brain - Cortex (x4.9).

Protein differential expression in normal tissues from HIPED for GABRA2 Gene

This gene is overexpressed in Frontal cortex (37.7), Cerebrospinal fluid (23.8), and Retina (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GABRA2: view

Protein tissue co-expression partners for GABRA2 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for GABRA2 Gene

Orthologs for GABRA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRA2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GABRA2 35
  • 94.46 (n)
  • 98.89 (a)
GABRA2 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRA2 35
  • 91.2 (n)
  • 94.68 (a)
GABRA2 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabra2 35
  • 90.84 (n)
  • 97.78 (a)
Gabra2 16
Gabra2 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GABRA2 35
  • 99.33 (n)
  • 100 (a)
GABRA2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabra2 35
  • 89.73 (n)
  • 97.34 (a)
oppossum
(Monodelphis domestica)
Mammalia GABRA2 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABRA2 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves GABRA2 35
  • 83.67 (n)
  • 93.65 (a)
GABRA2 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRA2 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabra2 35
  • 76.59 (n)
  • 87.05 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100150704 35
  • 72.8 (n)
  • 86.25 (a)
CABZ01072856.1 36
  • 83 (a)
OneToMany
GABRA2 (2 of 3) 36
  • 77 (a)
OneToMany
GABRA2 (3 of 3) 36
  • 87 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7711 35
fruit fly
(Drosophila melanogaster)
Insecta Grd 37
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea F09G2.5 37
  • 26 (a)
gbr-5 37
  • 33 (a)
glc-1 37
  • 33 (a)
glc-4 37
  • 34 (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

GBRA2_HUMAN-P47869
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
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

Variation tolerance for GABRA2 Gene

Residual Variation Intolerance Score: 41.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.66; 14.16% of all genes are more intolerant (likely to be disease-causing)

No data available for Relevant External Links for GABRA2 Gene

Disorders for GABRA2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GABRA2 Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
alcohol dependence
  • alcohol dependence, protection against
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for GABRA2

Genetic Association Database (GAD)
GABRA2
Human Genome Epidemiology (HuGE) Navigator
GABRA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GABRA2
genes like me logo Genes that share disorders with GABRA2: view

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

Publications for GABRA2 Gene

  1. 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 48 67
  2. 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
  3. 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
  4. Searching for perfect sleep: the continuing evolution of GABAA receptor modulators as hypnotics. (PMID: 19942638) Nutt D.J. … Stahl S.M. (J. Psychopharmacol. (Oxford) 2010) 25 26
  5. Atypical behavioural effects of lorazepam: clues to the design of novel therapies? (PMID: 20138190) Giersch A. … Vidailhet P. (Pharmacol. Ther. 2010) 25 26

Products for GABRA2 Gene

Sources for GABRA2 Gene

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