GABRG2

Identifiers

GABRG2, CAE2, ECA2, GEFSP3, gamma-aminobutyric acid type A receptor gamma2 subunit

External IDs

MGI: 95623 HomoloGene: 22443 GeneCards: GABRG2

Targeted by Drug

Gene ontology
Molecular function	• protein binding • benzodiazepine receptor activity • extracellular ligand-gated ion channel activity • chloride channel activity • GABA-A receptor activity
Cellular component	• integral component of membrane • postsynaptic membrane • membrane • synapse • dendrite membrane • chloride channel complex • axon • cell junction • integral component of plasma membrane • plasma membrane • GABA-A receptor complex
Biological process	• gamma-aminobutyric acid signaling pathway • synaptic transmission, GABAergic • ion transport • post-embryonic development • ion transmembrane transport • adult behavior • chloride transport • cellular response to histamine • chemical synaptic transmission • chloride transmembrane transport • transport
Sources:Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

Entrez


2566


14406

Ensembl


ENSG00000113327


ENSMUSG00000020436

UniProt


P18507


P22723

RefSeq (mRNA)


NM_198904 NM_000816 NM_198903


NM_008073 NM_177408

RefSeq (protein)


NP_000807.2 NP_944493.2 NP_944494.1


NP_032099.1 NP_803127.3

Location (UCSC)

Chr 5: 162.07 – 162.16 Mb

Chr 11: 41.91 – 42 Mb

PubMed search

^[2]

^[3]

Wikidata

View/Edit Human

View/Edit Mouse

Gamma-aminobutyric acid receptor subunit gamma-2 is a protein that in humans is encoded by the GABRG2 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.^[4]

Interactions

GABRG2 has been shown to interact with GABARAP^[5]^[6]^[7] and Dopamine receptor D5.^[8]

References

↑ "Drugs that physically interact with Gamma-aminobutyric acid receptor subunit gamma-2 view/edit references on wikidata".
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ "Entrez Gene: GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2".
↑ Nymann-Andersen, Jesper; Wang Hongbing; Chen Li; Kittler Josef T; Moss Stephen J; Olsen Richard W (March 2002). "Subunit specificity and interaction domain between GABA(A) receptor-associated protein (GABARAP) and GABA(A) receptors". J. Neurochem. England. 80 (5): 815–23. doi:10.1046/j.0022-3042.2002.00762.x. ISSN 0022-3042. PMID 11948245.
↑ Coyle, Joseph E; Qamar Seema; Rajashankar Kanagalaghatta R; Nikolov Dimitar B (January 2002). "Structure of GABARAP in two conformations: implications for GABA(A) receptor localization and tubulin binding". Neuron. United States. 33 (1): 63–74. doi:10.1016/S0896-6273(01)00558-X. ISSN 0896-6273. PMID 11779480.
↑ Wang, H; Bedford F K; Brandon N J; Moss S J; Olsen R W (January 1999). "GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton". Nature. ENGLAND. 397 (6714): 69–72. doi:10.1038/16264. ISSN 0028-0836. PMID 9892355.
↑ Liu, F; Wan Q; Pristupa Z B; Yu X M; Wang Y T; Niznik H B (January 2000). "Direct protein-protein coupling enables cross-talk between dopamine D5 and gamma-aminobutyric acid A receptors". Nature. ENGLAND. 403 (6767): 274–80. doi:10.1038/35002014. ISSN 0028-0836. PMID 10659839.

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. doi:10.1073/pnas.89.13.5857. PMC 49396. 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. doi:10.1073/pnas.96.17.9891. PMC 22306. 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. doi:10.3109/10425170009033988. 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. doi:10.1086/338710. PMC 384926. 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. doi:10.1046/j.0022-3042.2002.00762.x. 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. doi:10.1001/archneur.59.7.1137. 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. doi:10.1016/S0005-2736(02)00512-6. 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. doi:10.1016/S0028-3908(02)00165-X. 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. doi:10.1016/S0028-3908(02)00160-0. 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. doi:10.1016/S0304-3940(02)00805-4. 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. PMC 139241. 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.
Phillips, W. D.; Froehner, S. C. (2002). "GABARAP and GABA(A) receptor clustering". Neuron. 33 (1): 4–6. doi:10.1016/s0896-6273(01)00569-4. PMID 11779472.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

Ion channel, cell surface receptor: ligand-gated ion channels

Cys-loop receptors

5-HT/serotonin	5-HT₃ A B C D E

GABA	GABA_A α₁ α₂ α₃ α₄ α₅ α₆ β₁ β₂ β₃ γ₁ γ₂ γ₃ δ ε π θ GABA_A-ρ ρ₁ ρ₂ ρ₃

Glycine	α₁ α₂ α₃ α₄ β

Nicotinic acetylcholine	monomers: α1 α2 α3 α4 α5 α6 α7 α9 α10 β1 β2 β3 β4 δ ε pentamers: (α3)₂(β4)₃ (α4)₂(β2)₃ (α7)₅ (α1)₂(β4)₃ - Ganglion type (α1)₂β1δε - Muscle type

Zinc	Zinc-activated

Ionotropic glutamates

Ligand-gated only	AMPA (1 2 3 4) Kainate 1 2 3 4 5

Voltage- and ligand-gated	NMDA 1 2A 2B 2C 2D 3A 3B L1A L1B

‘Orphan’	GluD δ₁ δ₂

ATP-gated channels

Purinergic receptors	P2X 1 2 3 4 5 6 7

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GABRG2

Interactions

See also

References

Further reading