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Aliases for GABRG2 Gene

Aliases for GABRG2 Gene

  • Gamma-Aminobutyric Acid (GABA) A Receptor, Gamma 2 2 3
  • GABA(A) Receptor Subunit Gamma-2 3 4
  • GEFSP3 3 6
  • CAE2 3 6
  • ECA2 3 6
  • Gamma-Aminobutyric Acid Receptor Subunit Gamma-2 3
  • GABA(A) Receptor, Gamma 2 3
  • GABA(A) Receptor 2
  • Gamma 2 2

External Ids for GABRG2 Gene

Summaries for GABRG2 Gene

Entrez Gene Summary for GABRG2 Gene

  • This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for GABRG2 Gene

GABRG2 (Gamma-Aminobutyric Acid (GABA) A Receptor, Gamma 2) is a Protein Coding gene. Diseases associated with GABRG2 include epilepsy, childhood absence 2 and epilepsy, generalized, with febrile seizures plus, type 3. 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 GABRG2 Gene

  • Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel.

Tocris Summary for GABRG2 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 GABRG2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GABRG2 Gene

Genomics for GABRG2 Gene

Genomic Location for GABRG2 Gene

Start:
162,067,540 bp from pter
End:
162,155,539 bp from pter
Size:
88,000 bases
Orientation:
Plus strand

Genomic View for GABRG2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GABRG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRG2 Gene

Regulatory Elements for GABRG2 Gene

Proteins for GABRG2 Gene

  • Protein details for GABRG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P18507-GBRG2_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit gamma-2
    Protein Accession:
    P18507
    Secondary Accessions:
    • F5HB82
    • Q6GRL6
    • Q6PCC3
    • Q9UDB3
    • Q9UN15

    Protein attributes for GABRG2 Gene

    Size:
    467 amino acids
    Molecular mass:
    54162 Da
    Quaternary structure:
    • Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains. Interacts with GABARAP.
    Miscellaneous:
    • This subunit carries the benzodiazepine binding site

    Alternative splice isoforms for GABRG2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GABRG2 Gene

Proteomics data for GABRG2 Gene at MOPED

Post-translational modifications for GABRG2 Gene

  • Palmitoylated by ZDHHC3/GODZ; which may affect presynaptic clustering and/or cell surface stability.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn52, Asn129, and Asn247

Other Protein References for GABRG2 Gene

No data available for DME Specific Peptides for GABRG2 Gene

Domains for GABRG2 Gene

Gene Families for GABRG2 Gene

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

Suggested Antigen Peptide Sequences for GABRG2 Gene

Graphical View of Domain Structure for InterPro Entry

P18507

UniProtKB/Swiss-Prot:

GBRG2_HUMAN
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG2 sub-subfamily.:
    • P18507
genes like me logo Genes that share domains with GABRG2: view

Function for GABRG2 Gene

Molecular function for GABRG2 Gene

GENATLAS Biochemistry: gamma-aminobutyric acid (GABA) A receptor,ionotropic,gamma 2subunit,component of a pentameric receptor mediating inhibitory neurotransmission,complexing with DRD5 and promoting mutually inhibitory functional interactions between these receptor systems,putatively involved in the physiological dependance on alcohol,and in the maintenance of psychomotor disease states
UniProtKB/Swiss-Prot Function: Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel.

Gene Ontology (GO) - Molecular Function for GABRG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004890 GABA-A receptor activity ISS --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005254 chloride channel activity ISS --
GO:0005515 protein binding IPI 9892355
GO:0008503 benzodiazepine receptor activity TAS 2538761
genes like me logo Genes that share ontologies with GABRG2: view
genes like me logo Genes that share phenotypes with GABRG2: view

Animal Models for GABRG2 Gene

MGI Knock Outs for GABRG2:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for GABRG2 Gene

Localization for GABRG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRG2 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 GABRG2 Gene COMPARTMENTS Subcellular localization image for GABRG2 gene
Compartment Confidence
plasma membrane 5
extracellular 1

Gene Ontology (GO) - Cellular Components for GABRG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS --
GO:0016020 membrane --
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with GABRG2: view

Pathways for GABRG2 Gene

genes like me logo Genes that share pathways with GABRG2: view

Gene Ontology (GO) - Biological Process for GABRG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 2538761
GO:0006811 ion transport --
GO:0006821 chloride transport --
GO:0007214 gamma-aminobutyric acid signaling pathway IEA --
GO:0007268 synaptic transmission TAS --
genes like me logo Genes that share ontologies with GABRG2: view

Compounds for GABRG2 Gene

(5) Tocris Compounds for GABRG2 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 GABRG2 Gene

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

(24) Drugbank Compounds for GABRG2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Adinazolam
37115-32-5 target potentiator
Alprazolam
28981-97-7 target potentiator
Bromazepam
  • 7-Bromo-5-(2-pyridyl)-3H-1,4-benzodiaxepin-2(1H)-one
1812-30-2 target potentiator
Chlordiazepoxide
58-25-3 target potentiator
Cinolazepam
75696-02-5 target potentiator

(1) IUPHAR Ligand for GABRG2 Gene

Ligand Type Action Affinity Pubmed IDs
TBPS Channel blocker None

(6) Novoseek inferred chemical compound relationships for GABRG2 Gene

Compound -log(P) Hits PubMed IDs
gaba 71.1 12
sodium 47.4 9
benzodiazepine 29.5 1
methamphetamine 27.4 4
potassium 5.29 2
genes like me logo Genes that share compounds with GABRG2: view

Transcripts for GABRG2 Gene

Unigene Clusters for GABRG2 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for GABRG2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1: - -
SP2: - - -
SP3: - - - -
SP4: -
SP5: -

Relevant External Links for GABRG2 Gene

GeneLoc Exon Structure for
GABRG2
ECgene alternative splicing isoforms for
GABRG2

Expression for GABRG2 Gene

mRNA expression in normal human tissues for GABRG2 Gene

mRNA differential expression in normal tissues according to GTEx for GABRG2 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (9.2), Brain - Anterior cingulate cortex (BA24) (6.9), Brain - Cortex (5.4), Brain - Hypothalamus (5.1), and Brain - Cerebellar Hemisphere (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GABRG2 Gene

SOURCE GeneReport for Unigene cluster for GABRG2 Gene Hs.7195

genes like me logo Genes that share expressions with GABRG2: view

No data available for mRNA Expression by UniProt/SwissProt for GABRG2 Gene

Orthologs for GABRG2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRG2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GABRG2 35
  • 97.82 (n)
  • 97.44 (a)
cow
(Bos Taurus)
Mammalia GABRG2 35
  • 93.26 (n)
  • 98.53 (a)
GABRG2 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GABRG2 35
  • 93.4 (n)
  • 99.16 (a)
GABRG2 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gabrg2 35
  • 91 (n)
  • 99.16 (a)
Gabrg2 16
Gabrg2 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GABRG2 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GABRG2 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gabrg2 35
  • 90.27 (n)
  • 99.14 (a)
chicken
(Gallus gallus)
Aves GABRG2 35
  • 80.73 (n)
  • 92.62 (a)
GABRG2 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GABRG2 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gabrg2 35
  • 77.64 (n)
  • 88.82 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.27735 35
gabrg2 35
  • 72.53 (n)
  • 84.32 (a)
gabrg2 36
  • 84 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8916 36
  • 26 (a)
ManyToMany
Grd 36
  • 26 (a)
ManyToMany
Rdl 37
  • 37 (a)
Grd 37
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea lgc-36 36
  • 24 (a)
ManyToMany
lgc-37 36
  • 33 (a)
ManyToMany
glc-4 37
  • 33 (a)
C39B10.2 37
  • 34 (a)
T15B7.16 37
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 26 (a)
ManyToMany
Species with no ortholog for GABRG2:
  • 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 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 GABRG2 Gene

ENSEMBL:
Gene Tree for GABRG2 (if available)
TreeFam:
Gene Tree for GABRG2 (if available)

Paralogs for GABRG2 Gene

Paralogs for GABRG2 Gene

genes like me logo Genes that share paralogs with GABRG2: view

Variants for GABRG2 Gene

Sequence variations from dbSNP and Humsavar for GABRG2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs169792 -- 162,114,729(+) ACTGG(G/T)CTTAT intron-variant
rs169793 -- 162,114,029(+) GCCTA(A/T)AGCAG intron-variant
rs183294 -- 162,071,731(+) TCATT(C/T)CCTGT intron-variant
rs184135 -- 162,107,140(+) taggg(A/G)tagtg intron-variant
rs188379 -- 162,104,454(+) TTTAA(A/T)CTTAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GABRG2 Gene

Variant ID Type Subtype PubMed ID
nsv883074 CNV Loss 21882294
nsv883078 CNV Loss 21882294
dgv6366n71 CNV Loss 21882294
esv22373 CNV Loss 19812545
esv2667841 CNV Deletion 23128226
esv2660260 CNV Deletion 23128226
esv2664892 CNV Deletion 23128226

Relevant External Links for GABRG2 Gene

HapMap Linkage Disequilibrium report
GABRG2
Human Gene Mutation Database (HGMD)
GABRG2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABRG2 Gene

Disorders for GABRG2 Gene

(2) OMIM Diseases for GABRG2 Gene (137164)

UniProtKB/Swiss-Prot

GBRG2_HUMAN
  • Epilepsy, childhood absence 2 (ECA2) [MIM:607681]: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Some individuals manifest febrile seizures. Absence seizures may either remit or persist into adulthood. {ECO:0000269 PubMed:11326275}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Febrile seizures, familial, 8 (FEB8) [MIM:611277]: Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. {ECO:0000269 PubMed:16924025}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Generalized epilepsy with febrile seizures plus 3 (GEFS+3) [MIM:611277]: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. {ECO:0000269 PubMed:11326274}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for GABRG2 Gene

(13) Novoseek inferred disease relationships for GABRG2 Gene

Disease -log(P) Hits PubMed IDs
epilepsy generalized 92.7 15
seizures febrile 91.7 23
dravet syndrome 87.8 3
childhood absence epilepsy 87.2 6
epilepsies myoclonic 81.9 3

Relevant External Links for GABRG2

Genetic Association Database (GAD)
GABRG2
Human Genome Epidemiology (HuGE) Navigator
GABRG2
genes like me logo Genes that share disorders with GABRG2: view

Publications for GABRG2 Gene

  1. Association analysis of GABAAbeta2 and gamma2 gene polymorphisms with event-related prefrontal activity in man. (PMID: 11140951) Winterer G. … Sander T. (Hum. Genet. 2000) 3 23 48
  2. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. (PMID: 11326274) Baulac S. … LeGuern E. (Nat. Genet. 2001) 3 4 23
  3. Complete genomic sequence of 195 Kb of human DNA containing the gene GABRG2. (PMID: 11328646) Jiang S. … Yang H. (DNA Seq. 2000) 3 4 23
  4. Association analysis of gamma 2 subunit of gamma- aminobutyric acid type A receptor polymorphisms with febrile seizures. (PMID: 12672902) Chou I.C. … Tsai C.H. (Pediatr. Res. 2003) 3 23 48
  5. No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy. (PMID: 12694927) Madia F. … Zara F. (Epilepsy Res. 2003) 3 23 48

Products for GABRG2 Gene

  • antibodies-online peptides for GABRG2
  • antibodies-online antibodies for GABRG2
  • antibodies-online kits for GABRG2

Sources for GABRG2 Gene

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