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  3. GABRG2

GABRG2 (Gamma-aminobutyric acid type A receptor gamma2 subunit)

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Summary of GABRG2

This gene encodes a GABA receptor. GABA is the main inhibitory neurotransmitter of the brain. Mutations can cause seizures and epilepsy (R).

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The Function of GABRG2

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.

Protein names

Recommended name:

Gamma-aminobutyric acid receptor subunit gamma-2

Short name:

GABA(A

GABRG2 SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS209345 (GABRG2) ??
  2. RS211014 (GABRG2) ??
  3. RS211037 (GABRG2) ??
  4. RS7718928 (GABRG2) ??

Top Gene-Substance Interactions

GABRG2 Interacts with These Diseases

Disease Score

Substances That Increase GABRG2

Substances Interaction Organism Category

Substances That Decrease GABRG2

Substances Interaction Organism Category

Advanced Summary

     From NCBI Gene: Epilepsy, childhood absence 2Familial febrile seizures 8From UniProt: Febrile seizures, familial, 8 (FEB8): 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. [MIM:611277] Epilepsy, childhood absence 2 (ECA2): 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. [MIM:607681] Generalized epilepsy with febrile seizures plus 3 (GEFS+3): 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. [MIM:611277]

     From NCBI 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] From UniProt: 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.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

Gene Pathways:

  • Neuroactive ligand-receptor interaction
  • Neuronal System
  • Transmembrane transport of small molecules

Molecular Function:

  • Benzodiazepine Receptor Activity
  • Chloride Channel Activity
  • Extracellular Ligand-Gated Ion Channel Activity
  • Gaba-A Receptor Activity

Biological Processes:

  • Adult Behavior
  • Cellular Response To Histamine
  • Chloride Transmembrane Transport
  • Gamma-Aminobutyric Acid Signaling Pathway
  • Ion Transmembrane Transport
  • Post-Embryonic Development
  • Synaptic Transmission, Gabaergic
  • Transport

Drug Bank:

  • Butabarbital
  • Clorazepate
  • Ergoloid Mesylate
  • Ginkgo Biloba
  • Adinazolam
  • Alprazolam
  • Amoxapine
  • Bromazepam
  • Chlordiazepoxide
  • Cinolazepam
  • Clobazam
  • Clonazepam
  • Desflurane
  • Diazepam
  • Enflurane
  • Estazolam
  • Ethchlorvynol
  • Etomidate
  • Fludiazepam
  • Flumazenil
  • Flurazepam
  • Halazepam
  • Halothane
  • Isoflurane
  • Lorazepam
  • Meprobamate
  • Methyprylon
  • Midazolam
  • Nitrazepam
  • Olanzapine
  • Pentobarbital
  • Prazepam
  • Primidone
  • Propofol
  • Quazepam
  • Talbutal
  • Temazepam
  • Topiramate
  • Triazolam
  • Acamprosate
  • Butalbital
  • Clotiazepam
  • Eszopiclone
  • Glutethimide
  • Methoxyflurane
  • Oxazepam
  • Sevoflurane
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| gamma-aminobutyric acid A receptor, gamma 1| gabrg1| A306_14626| AS27_11860| AS28_10295| cae2| CB1_047321011| D623_10034860| ECA2| GABA-A gamma 2 subunit| GABAA-R| GABA(A) receptor, gamma 2| GABA-A receptor gamma-2 subunit| GABA(A) receptor subunit gamma-2| GABA receptor subunit gamma-2 protein| Gabrg-2| gamma2| gamma-aminobutyric acid A receptor, gamma 2| gamma-aminobutyric acid A receptor gamma 2| gamma-aminobutyric acid A receptor, gamma 2| gamma-aminobutyric acid (GABA) A receptor, gamma 2| gamma-aminobutyric acid (GABA-A) receptor, subunit gamma 2| gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2| gamma-aminobutyric acid (GABA-A) receptor, subunit gamma 2 isoform 2 isoform 3-like protein| Gamma-aminobutyric acid receptor subunit gamma-2| gamma-aminobutyric acid receptor subunit gamma-2-like protein| gamma-aminobutyric acid type A receptor gamma 2 subunit| gefsp3| GW7_03332| H920_04493| I79_015225| M959_08286| MDA_GLEAN10025752| N300_13062| N301_05003| N302_03668| N303_08879| N305_08697| N306_12705| N307_00708| N308_13122| N309_13089| N310_11892| N311_00850| N312_02328| N320_07202| N326_12551| N328_11855| N330_03132| N335_13035| N336_11217| N339_08905| N340_13191| N341_00632| PAL_GLEAN10018848| PANDA_000329| TREES_T100004768| UY3_18178| Y1Q_028928| Y956_14124| Z169_04278| gabrg2

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