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GABRG2

GABRG2
Identifiers
AliasesGABRG2, CAE2, ECA2, GEFSP3, gamma-aminobutyric acid type A receptor gamma2 subunit, EIEE74, FEB8
External IDsOMIM: 137164 MGI: 95623 HomoloGene: 22443 GeneCards: GABRG2
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for GABRG2
Genomic location for GABRG2
Band5q34Start162,000,057 bp[1]
End162,162,977 bp[1]
RNA expression pattern
PBB GE GABRG2 206849 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_198904
NM_000816
NM_198903

NM_008073
NM_177408
NM_001362655
NM_001362656

RefSeq (protein)

NP_032099
NP_803127
NP_001349584
NP_001349585

Location (UCSC)Chr 5: 162 – 162.16 MbChr 11: 41.91 – 42 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5]

Interactions

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

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000113327 - Ensembl, May 2017
  2. ^ a b c 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.
  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.
  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.
  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. 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): 14470–14476. 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. 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. 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): 528–533. 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.
  • 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): 9891–9896. 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. 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): 46–48. 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.
  • 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.
  • 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. 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.
  • 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.
  • 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.
  • 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. 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.

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