Gamma-aminobutyric_acid_receptor_subunit_gamma-2

Gamma-aminobutyric acid receptor subunit gamma-2

Protein-coding gene in the species Homo sapiens

Gamma-aminobutyric acid receptor subunit gamma-2 is a protein that in humans is encoded by the GABRG2 gene.

Quick Facts GABRG2, Identifiers ...

GABRG2

Identifiers

Aliases

GABRG2, CAE2, ECA2, GEFSP3, gamma-aminobutyric acid type A receptor gamma2 subunit, EIEE74, FEB8

External IDs

OMIM: 137164; MGI: 95623; HomoloGene: 22443; GeneCards: GABRG2; OMA:GABRG2 - orthologs

Gene location (Human)

Chr.	Chromosome 5 (human)^[1]

Band	5q34	Start	162,000,057 bp^[1]
Band	5q34	End	162,162,977 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 11 (mouse)^[2]

Band	11 A5\|11 24.8 cM	Start	41,801,030 bp^[2]
Band	11 A5\|11 24.8 cM	End	41,891,684 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

middle temporal gyrus

Brodmann area 23

superior frontal gyrus

primary visual cortex

postcentral gyrus

frontal pole

pons

prefrontal cortex

endothelial cell

entorhinal cortex

Top expressed in

visual cortex

superior frontal gyrus

entorhinal cortex

cerebellar cortex

lateral hypothalamus

ventral tegmental area

paraventricular nucleus of hypothalamus

inferior colliculus

cingulate gyrus

cerebellar vermis

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	protein binding benzodiazepine receptor activity extracellular ligand-gated ion channel activity chloride channel activity GABA-A receptor activity ion channel activity transmembrane signaling receptor activity inhibitory extracellular ligand-gated ion channel activity GABA-gated chloride ion channel activity transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential
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 dendrite cytoplasmic vesicle membrane cytoplasmic vesicle cell projection GABA-A receptor complex neuron projection postsynapse GABA-ergic synapse
Biological process	gamma-aminobutyric acid signaling pathway synaptic transmission, GABAergic ion transport post-embryonic development adult behavior chloride transport cellular response to histamine chemical synaptic transmission chloride transmembrane transport ion transmembrane transport signal transduction regulation of membrane potential nervous system process regulation of postsynaptic membrane potential inhibitory synapse assembly
Sources:Amigo / QuickGO

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 NM_001362655 NM_001362656

RefSeq (protein)

NP_000807 NP_944493 NP_944494 NP_001362268 NP_001362269
NP_001362270 NP_001362271 NP_001362272 NP_001362273 NP_001362274 NP_001362275 NP_001362276 NP_001362277 NP_001362278 NP_001362279


NP_032099 NP_803127 NP_001349584 NP_001349585

Location (UCSC)

Chr 5: 162 – 162.16 Mb

Chr 11: 41.8 – 41.89 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Function

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.^[5]

Interactions

GABRG2 has been shown to interact with GABARAP^[6]^[7]^[8] and Dopamine receptor D5.^[9]

References

[1]
GRCh38: Ensembl release 89: ENSG00000113327 – Ensembl, May 2017
[2]
GRCm38: Ensembl release 89: ENSMUSG00000020436 – Ensembl, May 2017
[3]
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
[4]
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
[5]
"Entrez Gene: GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2".
[6]
Nymann-Andersen J, Wang H, Chen L, Kittler JT, Moss SJ, Olsen RW (March 2002). "Subunit specificity and interaction domain between GABA(A) receptor-associated protein (GABARAP) and GABA(A) receptors". Journal of Neurochemistry. 80 (5): 815–823. doi:10.1046/j.0022-3042.2002.00762.x. PMID 11948245. S2CID 38049055.
[7]
Coyle JE, Qamar S, Rajashankar KR, Nikolov DB (January 2002). "Structure of GABARAP in two conformations: implications for GABA(A) receptor localization and tubulin binding". Neuron. 33 (1): 63–74. doi:10.1016/S0896-6273(01)00558-X. PMID 11779480. S2CID 14487823.
[8]
Wang H, Bedford FK, Brandon NJ, Moss SJ, Olsen RW (January 1999). "GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton". Nature. 397 (6714): 69–72. doi:10.1038/16264. PMID 9892355. S2CID 204990449.
[9]
Liu F, Wan Q, Pristupa ZB, Yu XM, Wang YT, Niznik HB (January 2000). "Direct protein-protein coupling enables cross-talk between dopamine D5 and gamma-aminobutyric acid A receptors". Nature. 403 (6767): 274–280. Bibcode:2000Natur.403..274L. doi:10.1038/35002014. PMID 10659839. S2CID 4415918.

Moss SJ, Doherty CA, Huganir RL (July 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". The Journal of Biological Chemistry. 267 (20): 14470–14476. doi:10.1016/S0021-9258(19)49736-6. PMID 1321150.
Wilcox AS, Warrington JA, Gardiner K, Berger R, Whiting P, Altherr MR, Wasmuth JJ, Patterson D, Sikela JM (July 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". Proceedings of the National Academy of Sciences of the United States of America. 89 (13): 5857–5861. Bibcode:1992PNAS...89.5857W. doi:10.1073/pnas.89.13.5857. PMC 49396. PMID 1321425.
Pritchett DB, Sontheimer H, Shivers BD, Ymer S, Kettenmann H, Schofield PR, Seeburg PH (April 1989). "Importance of a novel GABAA receptor subunit for benzodiazepine pharmacology". Nature. 338 (6216): 582–585. Bibcode:1989Natur.338..582P. doi:10.1038/338582a0. PMID 2538761. S2CID 4241689.
Russek SJ, Farb DH (October 1994). "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): 528–533. doi:10.1006/geno.1994.1539. PMID 7851879.
Kostrzewa M, Köhler A, Eppelt K, Hellam L, Fairweather ND, Levy ER, Monaco AP, Müller U (1997). "Assignment of genes encoding GABAA receptor subunits alpha 1, alpha 6, beta 2, and gamma 2 to a YAC contig of 5q33". European Journal of Human Genetics. 4 (4): 199–204. doi:10.1159/000472199. PMID 8875185. S2CID 33974711.
Wang H, Bedford FK, Brandon NJ, Moss SJ, Olsen RW (January 1999). "GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton". Nature. 397 (6714): 69–72. doi:10.1038/16264. PMID 9892355. S2CID 204990449.
Bonnert TP, McKernan RM, Farrar S, le Bourdellès B, Heavens RP, Smith DW, Hewson L, Rigby MR, Sirinathsinghji DJ, Brown N, Wafford KA, Whiting PJ (August 1999). "theta, a novel gamma-aminobutyric acid type A receptor subunit". Proceedings of the National Academy of Sciences of the United States of America. 96 (17): 9891–9896. Bibcode:1999PNAS...96.9891B. doi:10.1073/pnas.96.17.9891. PMC 22306. PMID 10449790.
Liu F, Wan Q, Pristupa ZB, Yu XM, Wang YT, Niznik HB (January 2000). "Direct protein-protein coupling enables cross-talk between dopamine D5 and gamma-aminobutyric acid A receptors". Nature. 403 (6767): 274–280. Bibcode:2000Natur.403..274L. doi:10.1038/35002014. PMID 10659839. S2CID 4415918.
Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, Prud'homme JF, Baulac M, Brice A, Bruzzone R, LeGuern E (May 2001). "First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene". Nature Genetics. 28 (1): 46–48. doi:10.1038/88254. PMID 11326274.
Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, Williams DA, Sutherland GR, Mulley JC, Scheffer IE, Berkovic SF (May 2001). "Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures". Nature Genetics. 28 (1): 49–52. doi:10.1038/88259. PMID 11326275.
Jiang S, Yu J, Wang J, Tan Z, Xue H, Feng G, He L, Yang H (2001). "Complete genomic sequence of 195 Kb of human DNA containing the gene GABRG2". DNA Sequence. 11 (5): 373–382. doi:10.3109/10425170009033988. PMID 11328646. S2CID 43206605.
Harkin LA, Bowser DN, Dibbens LM, Singh R, Phillips F, Wallace RH, Richards MC, Williams DA, Mulley JC, Berkovic SF, Scheffer IE, Petrou S (February 2002). "Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus". American Journal of Human Genetics. 70 (2): 530–536. doi:10.1086/338710. PMC 384926. PMID 11748509.
Nymann-Andersen J, Wang H, Chen L, Kittler JT, Moss SJ, Olsen RW (March 2002). "Subunit specificity and interaction domain between GABA(A) receptor-associated protein (GABARAP) and GABA(A) receptors". Journal of Neurochemistry. 80 (5): 815–823. doi:10.1046/j.0022-3042.2002.00762.x. PMID 11948245. S2CID 38049055.
Kananura C, Haug K, Sander T, Runge U, Gu W, Hallmann K, Rebstock J, Heils A, Steinlein OK (July 2002). "A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions". Archives of Neurology. 59 (7): 1137–1141. doi:10.1001/archneur.59.7.1137. PMID 12117362.
Trudell J (September 2002). "Unique assignment of inter-subunit association in GABA(A) alpha 1 beta 3 gamma 2 receptors determined by molecular modeling". Biochimica et Biophysica Acta (BBA) - Biomembranes. 1565 (1): 91–96. doi:10.1016/S0005-2736(02)00512-6. PMID 12225856.
Nymann-Andersen J, Wang H, Olsen RW (September 2002). "Biochemical identification of the binding domain in the GABA(A) receptor-associated protein (GABARAP) mediating dimer formation". Neuropharmacology. 43 (4): 476–481. doi:10.1016/S0028-3908(02)00165-X. PMID 12367594. S2CID 38995093.
Sarto I, Wabnegger L, Dögl E, Sieghart W (September 2002). "Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly". Neuropharmacology. 43 (4): 482–491. doi:10.1016/S0028-3908(02)00160-0. PMID 12367595. S2CID 140209788.
Lu J, Chen Y, Zhang Y, Pan H, Wu H, Xu K, Liu X, Jiang Y, Bao X, Ding K, Shen Y, Wu X (October 2002). "Mutation screen of the GABA(A) receptor gamma 2 subunit gene in Chinese patients with childhood absence epilepsy". Neuroscience Letters. 332 (2): 75–78. doi:10.1016/S0304-3940(02)00805-4. PMID 12384214. S2CID 54375872.
Wang J, Liu S, Haditsch U, Tu W, Cochrane K, Ahmadian G, Tran L, Paw J, Wang Y, Mansuy I, Salter MM, Lu YM (February 2003). "Interaction of calcineurin and type-A GABA receptor gamma 2 subunits produces long-term depression at CA1 inhibitory synapses". The Journal of Neuroscience. 23 (3): 826–836. doi:10.1523/JNEUROSCI.23-03-00826.2003. PMC 6741901. PMID 12574411.
Phillips WD, Froehner SC (January 2002). "GABARAP and GABA(A) receptor clustering". Neuron. 33 (1): 4–6. doi:10.1016/s0896-6273(01)00569-4. PMID 11779472. S2CID 17051192.

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