Canmetcon
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NameGamma-aminobutyric acid receptor subunit gamma-2
Synonyms
  • GABA(A) receptor subunit gamma-2
Gene NameGABRG2
OrganismHuman
Amino acid sequence
>lcl|BSEQ0006917|Gamma-aminobutyric acid receptor subunit gamma-2
MSSPNIWSTGSSVYSTPVFSQKMTVWILLLLSLYPGFTSQKSDDDYEDYASNKTWVLTPK
VPEGDVTVILNNLLEGYDNKLRPDIGVKPTLIHTDMYVNSIGPVNAINMEYTIDIFFAQT
WYDRRLKFNSTIKVLRLNSNMVGKIWIPDTFFRNSKKADAHWITTPNRMLRIWNDGRVLY
TLRLTIDAECQLQLHNFPMDEHSCPLEFSSYGYPREEIVYQWKRSSVEVGDTRSWRLYQF
SFVGLRNTTEVVKTTSGDYVVMSVYFDLSRRMGYFTIQTYIPCTLIVVLSWVSFWINKDA
VPARTSLGITTVLTMTTLSTIARKSLPKVSYVTAMDLFVSVCFIFVFSALVEYGTLHYFV
SNRKPSKDKDKKKKNPAPTIDIRPRSATIQMNNATHLQERDEEYGYECLDGKDCASFFCC
FEDCRTGAWRHGRIHIRIAKMDSYARIFFPTAFCLFNLVYWVSYLYL
Number of residues467
Molecular Weight54161.78
Theoretical pI8.6
GO Classification
Functions
  • benzodiazepine receptor activity
  • chloride channel activity
  • inhibitory extracellular ligand-gated ion channel activity
  • GABA-A receptor activity
Processes
  • synaptic transmission
  • neurological system process
  • adult behavior
  • transmembrane transport
  • transport
  • post-embryonic development
  • ion transmembrane transport
  • response to drug
  • cellular response to histamine
  • chloride transmembrane transport
  • synaptic transmission, GABAergic
  • gamma-aminobutyric acid signaling pathway
  • regulation of membrane potential
Components
  • cell junction
  • integral component of plasma membrane
  • chloride channel complex
  • GABA-A receptor complex
  • postsynaptic membrane
  • synapse
  • dendrite membrane
  • neuron projection
  • plasma membrane
  • axon
General FunctionInhibitory extracellular ligand-gated ion channel activity
Specific FunctionComponent of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel.
Pfam Domain Function
Transmembrane Regions274-296 300-322 334-356 444-466
GenBank Protein ID31637
UniProtKB IDP18507
UniProtKB Entry NameGBRG2_HUMAN
Cellular LocationCell junction
Gene sequence
>lcl|BSEQ0019445|Gamma-aminobutyric acid receptor subunit gamma-2 (GABRG2)
ATGAGTTCGCCAAATATATGGAGCACAGGAAGCTCAGTCTACTCGACTCCTGTATTTTCA
CAGAAAATGACGGTGTGGATTCTGCTCCTGCTGTCGCTCTACCCTGGCTTCACTAGCCAG
AAATCTGATGATGACTATGAAGATTATGCTTCTAACAAAACATGGGTCTTGACTCCAAAA
GTTCCTGAGGGTGATGTCACTGTCATCTTAAACAACCTGCTGGAAGGATATGACAATAAA
CTTCGGCCTGATATAGGAGTGAAGCCAACGTTAATTCACACAGACATGTATGTGAATAGC
ATTGGTCCAGTGAACGCTATCAATATGGAATACACTATTGATATATTTTTTGCGCAAACG
TGGTATGACAGACGTTTGAAATTTAACAGCACCATTAAAGTCCTCCGATTGAACAGCAAC
ATGGTGGGGAAAATCTGGATTCCAGACACTTTCTTCAGAAATTCCAAAAAAGCTGATGCA
CACTGGATCACCACCCCCAACAGGATGCTGAGAATTTGGAATGATGGTCGAGTGCTCTAC
ACCCTAAGGTTGACAATTGATGCTGAGTGCCAATTACAATTGCACAACTTTCCAATGGAT
GAACACTCCTGCCCCTTGGAGTTCTCCAGTTATGGCTATCCACGTGAAGAAATTGTTTAT
CAATGGAAGCGAAGTTCTGTTGAAGTGGGCGACACAAGATCCTGGAGGCTTTATCAATTC
TCATTTGTTGGTCTAAGAAATACCACCGAAGTAGTGAAGACAACTTCCGGAGATTATGTG
GTCATGTCTGTCTACTTTGATCTGAGCAGAAGAATGGGATACTTTACCATCCAGACCTAT
ATCCCCTGCACACTCATTGTCGTCCTATCCTGGGTGTCTTTCTGGATCAATAAGGATGCT
GTTCCAGCCAGAACATCTTTAGGTATCACCACTGTCCTGACAATGACCACCCTCAGCACC
ATTGCCCGGAAATCGCTCCCCAAGGTCTCCTATGTCACAGCGATGGATCTCTTTGTATCT
GTTTGTTTCATCTTTGTCTTCTCTGCTCTGGTGGAGTATGGCACCTTGCATTATTTTGTC
AGCAACCGGAAACCAAGCAAGGACAAAGATAAAAAGAAGAAAAACCCTGCCCCTACCATT
GATATCCGCCCAAGATCAGCAACCATTCAAATGAATAATGCTACACACCTTCAAGAGAGA
GATGAAGAGTACGGCTATGAGTGTCTGGACGGCAAGGACTGTGCCAGTTTTTTCTGCTGT
TTTGAAGATTGTCGAACAGGAGCTTGGAGACATGGGAGGATACATATCCGCATTGCCAAA
ATGGACTCCTATGCTCGGATCTTCTTCCCCACTGCCTTCTGCCTGTTTAATCTGGTCTAT
TGGGTCTCCTACCTCTACCTGTGA
GenBank Gene IDX15376
GeneCard IDNot Available
GenAtlas IDNot Available
HGNC IDHGNC:4087
Chromosome Location5
Locus5q31.1-q33.1
References
  1. Pritchett DB, Sontheimer H, Shivers BD, Ymer S, Kettenmann H, Schofield PR, Seeburg PH: Importance of a novel GABAA receptor subunit for benzodiazepine pharmacology. Nature. 1989 Apr 13;338(6216):582-5. 2538761
  2. Jiang S, Yu J, Wang J, Tan Z, Xue H, Feng G, He L, Yang H: Complete genomic sequence of 195 Kb of human DNA containing the gene GABRG2. DNA Seq. 2000;11(5):373-82. 11328646
  3. Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S, Gordon LA, Scott D, Xie G, Huang W, Hellsten U, Tran-Gyamfi M, She X, Prabhakar S, Aerts A, Altherr M, Bajorek E, Black S, Branscomb E, Caoile C, Challacombe JF, Chan YM, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Lopez F, Lou Y, Martinez D, Medina C, Morgan J, Nandkeshwar R, Noonan JP, Pitluck S, Pollard M, Predki P, Priest J, Ramirez L, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wheeler J, Wu K, Yang J, Dickson M, Cheng JF, Eichler EE, Olsen A, Pennacchio LA, Rokhsar DS, Richardson P, Lucas SM, Myers RM, Rubin EM: The DNA sequence and comparative analysis of human chromosome 5. Nature. 2004 Sep 16;431(7006):268-74. 15372022
  4. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. 15489334
  5. Khan ZU, Fernando LP, Escriba P, Busquets X, Mallet J, Miralles CP, Filla M, De Blas AL: Antibodies to the human gamma 2 subunit of the gamma-aminobutyric acidA/benzodiazepine receptor. J Neurochem. 1993 Mar;60(3):961-71. 8382267
  6. Wang H, Bedford FK, Brandon NJ, Moss SJ, Olsen RW: GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton. Nature. 1999 Jan 7;397(6714):69-72. 9892355
  7. Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, Prud'homme JF, Baulac M, Brice A, Bruzzone R, LeGuern E: First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet. 2001 May;28(1):46-8. 11326274
  8. Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, Williams DA, Sutherland GR, Mulley JC, Scheffer IE, Berkovic SF: Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet. 2001 May;28(1):49-52. 11326275
  9. Audenaert D, Schwartz E, Claeys KG, Claes L, Deprez L, Suls A, Van Dyck T, Lagae L, Van Broeckhoven C, Macdonald RL, De Jonghe P: A novel GABRG2 mutation associated with febrile seizures. Neurology. 2006 Aug 22;67(4):687-90. 16924025
  10. Shi X, Huang MC, Ishii A, Yoshida S, Okada M, Morita K, Nagafuji H, Yasumoto S, Kaneko S, Kojima T, Hirose S: Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies. J Hum Genet. 2010 Jun;55(6):375-8. doi: 10.1038/jhg.2010.47. Epub 2010 May 20. 20485450
  11. Lachance-Touchette P, Brown P, Meloche C, Kinirons P, Lapointe L, Lacasse H, Lortie A, Carmant L, Bedford F, Bowie D, Cossette P: Novel alpha1 and gamma2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy. Eur J Neurosci. 2011 Jul;34(2):237-49. doi: 10.1111/j.1460-9568.2011.07767.x. Epub 2011 Jun 30. 21714819