GABRG2 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. Defects in GABRG2 are the cause of childhood absence epilepsy type 2 (ECA2). ECA2 is a subtype of idiopathic generalized epilepsy (IGE) 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. During adolescence, tonic-clonic and myoclonic seizures develop. Some individuals manifest ECA2 occurring in combination with febrile convulsions. Defects in GABRG2 are the cause of familial febrile convulsions type 8 (FEB8). A febrile convulsion is defined as a seizure event in infancy or childhood, usually occurring between 6 months and 6 years of age, associated with fever but without any evidence of intracranial infection or defined pathologic or traumatic cause. Febrile convulsions affect 5-12% of infants and children up to 6 years of age. There is epidemiological evidence that febrile seizures are associated with subsequent afebrile and unprovoked seizures in 2% to 7% of patients. Defects in GABRG2 are the cause of generalized epilepsy with febrile seizures plus type 3 (GEFS+3). Generalized epilepsy with febrile seizures-plus refers to 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. GEFS+ is a disease combining febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. Defects in GABRG2 are a cause of severe myoclonic epilepsy in infancy (SMEI); also called Dravet syndrome. SMEI is a rare disorder characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development delay is observed around the second year of life. SMEI is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus. 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. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Channel, chloride; Channel, ligand-gated; Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ion channel
Chromosomal Location of Human Ortholog: 11 A5|11 24.8 cM
Cellular Component:  axon; cell junction; cell projection; chloride channel complex; cytoplasm; cytoplasmic vesicle; dendrite membrane; GABA receptor complex; GABA-A receptor complex; GABA-ergic synapse; glutamatergic synapse; inhibitory synapse; integral component of membrane; integral component of plasma membrane; integral component of postsynaptic specialization membrane; membrane; neuron projection; plasma membrane; postsynapse; postsynaptic membrane; synapse
Molecular Function:  chloride channel activity; GABA-A receptor activity; GABA-gated chloride ion channel activity; inhibitory extracellular ligand-gated ion channel activity; ion channel activity; protein binding; transmembrane signaling receptor activity; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential
Biological Process:  adult behavior; cellular response to histamine; chemical synaptic transmission; chloride transmembrane transport; chloride transport; gamma-aminobutyric acid signaling pathway; inhibitory synapse assembly; ion transmembrane transport; ion transport; nervous system process; post-embryonic development; regulation of membrane potential; regulation of postsynaptic membrane potential; signal transduction; synaptic transmission, GABAergic
Reference #:  P22723 (UniProtKB)
Alt. Names/Synonyms: AI851231; BB128510; GABA(A) receptor subunit gamma-2; GABAA-R; Gabrg-2; Gabrg2; gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2; gamma-aminobutyric acid (GABA-A) receptor, subunit gamma 2; Gamma-aminobutyric acid receptor subunit gamma-2; GAMMA-AMINOBUTYRIC-ACID RECEPTOR GAMMA-2 SUBUNIT PRECURSOR (GABA(A) RECEPTOR); gamma2; GBRG2
Gene Symbols: Gabrg2
Molecular weight: 55,099 Da
Basal Isoelectric point: 8.88  Predict pI for various phosphorylation states
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Protein Structure Not Found.

Cross-references to other databases:  STRING  |  Reactome  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene