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Description for Protein GABRG2

gamma-aminobutyric acid (GABA) A receptor, gamma 2
7 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05187
    KEGG - Pathway(s):
    hsa04080
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Gamma-aminobutyric acid receptor, gamma 2; Gamma-aminobutyric acid A receptor, gamma 2 isoform 1 precursor; Gamma-aminobutyric acid A receptor, gamma 2 isoform 3; Gamma-aminobutyric acid A receptor, gamma 2 isoform 2 precursor
    Approved Symbol:
    GABRG2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Adinazolam(db);
  • Alprazolam(db);
  • Bromazepam(db);
  • Chlordiazepoxide(db);
  • Cinolazepam(db);
  • Clobazam(db);
  • Clonazepam(db);
  • Clorazepate(db);
  • Clotiazepam(db);
  • Diazepam(db);
  • Estazolam(db);
  • Fludiazepam(db);
  • Flurazepam(db);
  • Ginkgo biloba(db);
  • Halazepam(db);
  • Lorazepam(db);
  • Midazolam(db);
  • Nitrazepam(db);
  • Oxazepam(db);
  • Prazepam(db);
  • Quazepam(db);
  • Temazepam(db);
  • Triazolam(db)

    Associated Genetic Diseases:

  • Epilepsy, childhood absence, 2(Pd);
  • Generalized epilepsy with febrile seizures plus, type 3(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 4
  • Isoform 2 : 4
  • Isoform 1 : 4
    • Additional Identifiers:

    HPRD: 00663 Entrez Gene ID: 2566 OMIM ID: 137164 Swissprot Accession: P18507; C9JAR3; Q6PCC3;