GABRG2

From Wikipedia, the free encyclopedia

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

Identifiers

GABRG2; CAE2; ECA2; GEFSP3

External IDs

OMIM: 137164 MGI: 95623 HomoloGene: 22443

Gene ontology
Molecular Function:	• GABA-A receptor activity • ion channel activity • extracellular ligand-gated ion channel activity • chloride channel activity • protein binding • benzodiazepine receptor activity • neurotransmitter receptor activity • chloride ion binding
Cellular Component:	• integral to plasma membrane • integral to membrane • postsynaptic membrane
Biological Process:	• ion transport • chloride transport • gamma-aminobutyric acid signaling pathway

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000816 (mRNA)
NP_000807 (protein)

NM_008073 (mRNA)
NP_032099 (protein)

Location

Chr 5: 161.43 - 161.52 Mb

Chr 11: 41.75 - 41.84 Mb

Pubmed search

[1]

[2]

Gamma-aminobutyric acid (GABA) A receptor, gamma 2, also known as GABRG2, is a human gene.

Gamma-aminobutyric acid (GABA), the major inhibitory neurotransmitter in the brain, mediates neuronal inhibition by binding to GABA receptors. The type A GABA receptors are pentameric chloride channels assembled from among many genetic variants of GABA(A) subunits. This gene encodes the gamma 2 subunit of GABA(A) receptor. Mutations in this gene have been associated with epilepsy and febrile seizures. Alternative splicing of this gene results in transcript variants encoding different isoforms.^[1]

[edit] See also

GABAA receptor

[edit] References

^ Entrez Gene: GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2.

[edit] Further reading

Moss SJ, Doherty CA, Huganir RL (1992). "Identification of the cAMP-dependent protein kinase and protein kinase C phosphorylation sites within the major intracellular domains of the beta 1, gamma 2S, and gamma 2L subunits of the gamma-aminobutyric acid type A receptor.". J. Biol. Chem. 267 (20): 14470–6. PMID 1321150.
Wilcox AS, Warrington JA, Gardiner K, et al. (1992). "Human chromosomal localization of genes encoding the gamma 1 and gamma 2 subunits of the gamma-aminobutyric acid receptor indicates that members of this gene family are often clustered in the genome.". Proc. Natl. Acad. Sci. U.S.A. 89 (13): 5857–61. PMID 1321425.
Pritchett DB, Sontheimer H, Shivers BD, et al. (1989). "Importance of a novel GABAA receptor subunit for benzodiazepine pharmacology.". Nature 338 (6216): 582–5. doi:10.1038/338582a0. PMID 2538761.
Russek SJ, Farb DH (1995). "Mapping of the beta 2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 defines a gene cluster for the most abundant GABAA receptor isoform.". Genomics 23 (3): 528–33. doi:10.1006/geno.1994.1539. PMID 7851879.
Kostrzewa M, Köhler A, Eppelt K, et al. (1997). "Assignment of genes encoding GABAA receptor subunits alpha 1, alpha 6, beta 2, and gamma 2 to a YAC contig of 5q33.". Eur. J. Hum. Genet. 4 (4): 199–204. PMID 8875185.
Wang H, Bedford FK, Brandon NJ, et al. (1999). "GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton.". Nature 397 (6714): 69–72. doi:10.1038/16264. PMID 9892355.
Bonnert TP, McKernan RM, Farrar S, et al. (1999). "theta, a novel gamma-aminobutyric acid type A receptor subunit.". Proc. Natl. Acad. Sci. U.S.A. 96 (17): 9891–6. PMID 10449790.
Liu F, Wan Q, Pristupa ZB, et al. (2000). "Direct protein-protein coupling enables cross-talk between dopamine D5 and gamma-aminobutyric acid A receptors.". Nature 403 (6767): 274–80. doi:10.1038/35002014. PMID 10659839.
Baulac S, Huberfeld G, Gourfinkel-An I, et al. (2001). "First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.". Nat. Genet. 28 (1): 46–8. doi:10.1038/88254. PMID 11326274.
Wallace RH, Marini C, Petrou S, et al. (2001). "Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.". Nat. Genet. 28 (1): 49–52. doi:10.1038/88259. PMID 11326275.
Jiang S, Yu J, Wang J, et al. (2001). "Complete genomic sequence of 195 Kb of human DNA containing the gene GABRG2.". DNA Seq. 11 (5): 373–82. PMID 11328646.
Harkin LA, Bowser DN, Dibbens LM, et al. (2002). "Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.". Am. J. Hum. Genet. 70 (2): 530–6. PMID 11748509.
Nymann-Andersen J, Wang H, Chen L, et al. (2002). "Subunit specificity and interaction domain between GABA(A) receptor-associated protein (GABARAP) and GABA(A) receptors.". J. Neurochem. 80 (5): 815–23. PMID 11948245.
Kananura C, Haug K, Sander T, et al. (2002). "A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.". Arch. Neurol. 59 (7): 1137–41. PMID 12117362.
Trudell J (2002). "Unique assignment of inter-subunit association in GABA(A) alpha 1 beta 3 gamma 2 receptors determined by molecular modeling.". Biochim. Biophys. Acta 1565 (1): 91–6. PMID 12225856.
Nymann-Andersen J, Wang H, Olsen RW (2002). "Biochemical identification of the binding domain in the GABA(A) receptor-associated protein (GABARAP) mediating dimer formation.". Neuropharmacology 43 (4): 476–81. PMID 12367594.
Sarto I, Wabnegger L, Dögl E, Sieghart W (2002). "Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly.". Neuropharmacology 43 (4): 482–91. PMID 12367595.
Lu J, Chen Y, Zhang Y, et al. (2002). "Mutation screen of the GABA(A) receptor gamma 2 subunit gene in Chinese patients with childhood absence epilepsy.". Neurosci. Lett. 332 (2): 75–8. PMID 12384214.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Wang J, Liu S, Haditsch U, et al. (2003). "Interaction of calcineurin and type-A GABA receptor gamma 2 subunits produces long-term depression at CA1 inhibitory synapses.". J. Neurosci. 23 (3): 826–36. PMID 12574411.

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v • d • e Ion channel, receptor: ligand-gated ion channels

Cys-loop receptors	5-HT/serotonin: 5-HT₃ (A) GABA: GABA A (α₁, α₂, α₃, α₄, α₅, α₆, β₁, β₂, β₃, γ₂, γ₃, δ, ε, π), GABA C (ρ₁, ρ₂) Glycine: α₁, α₂, β Nicotinic acetylcholine: α1, α2, α3, α4, α5, α7, α9, β1, β2, β3, β4, δ, ε, combinations ((α4)₂(β2)₃, (α7)₅, Ganglion type, Muscle type)

Ionotropic glutamates	AMPA (1, 2, 3, 4) - Kainate (1, 2, 3, 5) - NMDA (1, 2A, 2B, 2C, 2D)

ATP-gated channels	Purinergic receptors: P2X (1, 2, 3, 4, 5, 6, 7)