GABRG2: Difference between revisions
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{{ | '''Gamma-aminobutyric acid receptor subunit gamma-2''' is a [[protein]] that in humans is encoded by the ''GABRG2'' [[gene]]. | ||
}} | |||
== 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.<ref name="entrez">{{cite web | title = Entrez Gene: GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2566| accessdate = }}</ref> | |||
==See also== | == Interactions == | ||
GABRG2 has been shown to [[Protein-protein interaction|interact]] with [[GABARAP]]<ref name=pmid11948245>{{cite journal | vauthors = Nymann-Andersen J, Wang H, Chen L, Kittler JT, Moss SJ, Olsen RW | title = Subunit specificity and interaction domain between GABA(A) receptor-associated protein (GABARAP) and GABA(A) receptors | journal = Journal of Neurochemistry | volume = 80 | issue = 5 | pages = 815–23 | date = March 2002 | pmid = 11948245 | doi = 10.1046/j.0022-3042.2002.00762.x }}</ref><ref name=pmid11779480>{{cite journal | vauthors = Coyle JE, Qamar S, Rajashankar KR, Nikolov DB | title = Structure of GABARAP in two conformations: implications for GABA(A) receptor localization and tubulin binding | journal = Neuron | volume = 33 | issue = 1 | pages = 63–74 | date = January 2002 | pmid = 11779480 | doi = 10.1016/S0896-6273(01)00558-X }}</ref><ref name=pmid9892355>{{cite journal | vauthors = Wang H, Bedford FK, Brandon NJ, Moss SJ, Olsen RW | title = GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton | journal = Nature | volume = 397 | issue = 6714 | pages = 69–72 | date = January 1999 | pmid = 9892355 | doi = 10.1038/16264 }}</ref> and [[Dopamine receptor D5]].<ref name=pmid10659839>{{cite journal | vauthors = Liu F, Wan Q, Pristupa ZB, Yu XM, Wang YT, Niznik HB | title = Direct protein-protein coupling enables cross-talk between dopamine D5 and gamma-aminobutyric acid A receptors | journal = Nature | volume = 403 | issue = 6767 | pages = 274–80 | date = January 2000 | pmid = 10659839 | doi = 10.1038/35002014 }}</ref> | |||
== See also == | |||
* [[GABAA receptor]] | * [[GABAA receptor]] | ||
==References== | == References == | ||
{{reflist | {{reflist}} | ||
==Further reading== | == Further reading == | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
* {{cite journal | vauthors = Moss SJ, Doherty CA, Huganir RL | title = 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 | journal = The Journal of Biological Chemistry | volume = 267 | issue = 20 | pages = 14470–6 | date = July 1992 | pmid = 1321150 | doi = }} | |||
* {{cite journal | vauthors = Wilcox AS, Warrington JA, Gardiner K, Berger R, Whiting P, Altherr MR, Wasmuth JJ, Patterson D, Sikela JM | title = 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 | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 89 | issue = 13 | pages = 5857–61 | date = July 1992 | pmid = 1321425 | pmc = 49396 | doi = 10.1073/pnas.89.13.5857 }} | |||
*{{cite journal | * {{cite journal | vauthors = Pritchett DB, Sontheimer H, Shivers BD, Ymer S, Kettenmann H, Schofield PR, Seeburg PH | title = Importance of a novel GABAA receptor subunit for benzodiazepine pharmacology | journal = Nature | volume = 338 | issue = 6216 | pages = 582–5 | date = April 1989 | pmid = 2538761 | doi = 10.1038/338582a0 }} | ||
*{{cite journal | * {{cite journal | vauthors = Russek SJ, Farb DH | title = 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 | journal = Genomics | volume = 23 | issue = 3 | pages = 528–33 | date = October 1994 | pmid = 7851879 | doi = 10.1006/geno.1994.1539 }} | ||
*{{cite journal | * {{cite journal | vauthors = Kostrzewa M, Köhler A, Eppelt K, Hellam L, Fairweather ND, Levy ER, Monaco AP, Müller U | title = Assignment of genes encoding GABAA receptor subunits alpha 1, alpha 6, beta 2, and gamma 2 to a YAC contig of 5q33 | journal = European Journal of Human Genetics | volume = 4 | issue = 4 | pages = 199–204 | year = 1997 | pmid = 8875185 | doi = }} | ||
*{{cite journal | * {{cite journal | vauthors = Wang H, Bedford FK, Brandon NJ, Moss SJ, Olsen RW | title = GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton | journal = Nature | volume = 397 | issue = 6714 | pages = 69–72 | date = January 1999 | pmid = 9892355 | doi = 10.1038/16264 }} | ||
*{{cite journal | * {{cite journal | vauthors = 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 | title = theta, a novel gamma-aminobutyric acid type A receptor subunit | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 96 | issue = 17 | pages = 9891–6 | date = August 1999 | pmid = 10449790 | pmc = 22306 | doi = 10.1073/pnas.96.17.9891 }} | ||
*{{cite journal | * {{cite journal | vauthors = Liu F, Wan Q, Pristupa ZB, Yu XM, Wang YT, Niznik HB | title = Direct protein-protein coupling enables cross-talk between dopamine D5 and gamma-aminobutyric acid A receptors | journal = Nature | volume = 403 | issue = 6767 | pages = 274–80 | date = January 2000 | pmid = 10659839 | doi = 10.1038/35002014 }} | ||
*{{cite journal | * {{cite journal | vauthors = Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, Prud'homme JF, Baulac M, Brice A, Bruzzone R, LeGuern E | title = First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene | journal = Nature Genetics | volume = 28 | issue = 1 | pages = 46–8 | date = May 2001 | pmid = 11326274 | doi = 10.1038/88254 }} | ||
* {{cite journal | vauthors = Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, Williams DA, Sutherland GR, Mulley JC, Scheffer IE, Berkovic SF | title = Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures | journal = Nature Genetics | volume = 28 | issue = 1 | pages = 49–52 | date = May 2001 | pmid = 11326275 | doi = 10.1038/88259 }} | |||
*{{cite journal | * {{cite journal | vauthors = Jiang S, Yu J, Wang J, Tan Z, Xue H, Feng G, He L, Yang H | title = Complete genomic sequence of 195 Kb of human DNA containing the gene GABRG2 | journal = DNA Sequence | volume = 11 | issue = 5 | pages = 373–82 | year = 2001 | pmid = 11328646 | doi = 10.3109/10425170009033988 }} | ||
*{{cite journal | * {{cite journal | vauthors = Harkin LA, Bowser DN, Dibbens LM, Singh R, Phillips F, Wallace RH, Richards MC, Williams DA, Mulley JC, Berkovic SF, Scheffer IE, Petrou S | title = Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus | journal = American Journal of Human Genetics | volume = 70 | issue = 2 | pages = 530–6 | date = February 2002 | pmid = 11748509 | pmc = 384926 | doi = 10.1086/338710 }} | ||
*{{cite journal | * {{cite journal | vauthors = Nymann-Andersen J, Wang H, Chen L, Kittler JT, Moss SJ, Olsen RW | title = Subunit specificity and interaction domain between GABA(A) receptor-associated protein (GABARAP) and GABA(A) receptors | journal = Journal of Neurochemistry | volume = 80 | issue = 5 | pages = 815–23 | date = March 2002 | pmid = 11948245 | doi = 10.1046/j.0022-3042.2002.00762.x }} | ||
*{{cite journal | * {{cite journal | vauthors = Kananura C, Haug K, Sander T, Runge U, Gu W, Hallmann K, Rebstock J, Heils A, Steinlein OK | title = A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions | journal = Archives of Neurology | volume = 59 | issue = 7 | pages = 1137–41 | date = July 2002 | pmid = 12117362 | doi = 10.1001/archneur.59.7.1137 }} | ||
*{{cite journal | * {{cite journal | vauthors = Trudell J | title = Unique assignment of inter-subunit association in GABA(A) alpha 1 beta 3 gamma 2 receptors determined by molecular modeling | journal = Biochimica et Biophysica Acta | volume = 1565 | issue = 1 | pages = 91–6 | date = September 2002 | pmid = 12225856 | doi = 10.1016/S0005-2736(02)00512-6 }} | ||
*{{cite journal | * {{cite journal | vauthors = Nymann-Andersen J, Wang H, Olsen RW | title = Biochemical identification of the binding domain in the GABA(A) receptor-associated protein (GABARAP) mediating dimer formation | journal = Neuropharmacology | volume = 43 | issue = 4 | pages = 476–81 | date = September 2002 | pmid = 12367594 | doi = 10.1016/S0028-3908(02)00165-X }} | ||
*{{cite journal | * {{cite journal | vauthors = Sarto I, Wabnegger L, Dögl E, Sieghart W | title = Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly | journal = Neuropharmacology | volume = 43 | issue = 4 | pages = 482–91 | date = September 2002 | pmid = 12367595 | doi = 10.1016/S0028-3908(02)00160-0 }} | ||
*{{cite journal | * {{cite journal | vauthors = Lu J, Chen Y, Zhang Y, Pan H, Wu H, Xu K, Liu X, Jiang Y, Bao X, Ding K, Shen Y, Wu X | title = Mutation screen of the GABA(A) receptor gamma 2 subunit gene in Chinese patients with childhood absence epilepsy | journal = Neuroscience Letters | volume = 332 | issue = 2 | pages = 75–8 | date = October 2002 | pmid = 12384214 | doi = 10.1016/S0304-3940(02)00805-4 }} | ||
*{{cite journal | * {{cite journal | vauthors = Wang J, Liu S, Haditsch U, Tu W, Cochrane K, Ahmadian G, Tran L, Paw J, Wang Y, Mansuy I, Salter MM, Lu YM | title = Interaction of calcineurin and type-A GABA receptor gamma 2 subunits produces long-term depression at CA1 inhibitory synapses | journal = The Journal of Neuroscience | volume = 23 | issue = 3 | pages = 826–36 | date = February 2003 | pmid = 12574411 | doi = }} | ||
*{{cite journal | * {{cite journal | vauthors = Phillips WD, Froehner SC | title = GABARAP and GABA(A) receptor clustering | journal = Neuron | volume = 33 | issue = 1 | pages = 4–6 | date = January 2002 | pmid = 11779472 | doi = 10.1016/s0896-6273(01)00569-4 }} | ||
*{{cite journal | |||
*{{cite journal | |||
}} | |||
{{refend}} | {{refend}} | ||
{{NLM content}} | {{NLM content}} | ||
{{Ligand-gated ion channels}} | {{Ligand-gated ion channels}} | ||
[[Category:Ion channels]] | [[Category:Ion channels]] | ||
{{membrane-protein-stub}} |
Latest revision as of 15:50, 10 November 2017
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Species | Human | Mouse | |||||
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Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
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Gamma-aminobutyric acid receptor subunit gamma-2 is a protein that in humans is encoded by the GABRG2 gene.
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.[1]
Interactions
GABRG2 has been shown to interact with GABARAP[2][3][4] and Dopamine receptor D5.[5]
See also
References
- ↑ "Entrez Gene: GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2".
- ↑ 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): 815–23. doi:10.1046/j.0022-3042.2002.00762.x. PMID 11948245.
- ↑ 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.
- ↑ 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.
- ↑ 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): 274–80. doi:10.1038/35002014. PMID 10659839.
Further reading
- 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): 14470–6. 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): 5857–61. 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): 582–5. doi:10.1038/338582a0. PMID 2538761.
- 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): 528–33. 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. PMID 8875185.
- 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.
- 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): 9891–6. 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): 274–80. doi:10.1038/35002014. PMID 10659839.
- 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): 46–8. 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): 373–82. doi:10.3109/10425170009033988. PMID 11328646.
- 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): 530–6. 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): 815–23. doi:10.1046/j.0022-3042.2002.00762.x. PMID 11948245.
- 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): 1137–41. 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. 1565 (1): 91–6. 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): 476–81. doi:10.1016/S0028-3908(02)00165-X. PMID 12367594.
- 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): 482–91. doi:10.1016/S0028-3908(02)00160-0. PMID 12367595.
- 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): 75–8. doi:10.1016/S0304-3940(02)00805-4. PMID 12384214.
- 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): 826–36. 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.
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