Aliases for GABRG2 Gene
External Ids for GABRG2 Gene
Previous GeneCards Identifiers 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 Type A Receptor Gamma2 Subunit) 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 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 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.
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.