Gamma-aminobutyric acid receptor subunit gamma-2

Details

Name
Gamma-aminobutyric acid receptor subunit gamma-2
Synonyms
  • GABA(A) receptor subunit gamma-2
Gene Name
GABRG2
Organism
Humans
Amino acid sequence
>lcl|BSEQ0006917|Gamma-aminobutyric acid receptor subunit gamma-2
MSSPNIWSTGSSVYSTPVFSQKMTVWILLLLSLYPGFTSQKSDDDYEDYASNKTWVLTPK
VPEGDVTVILNNLLEGYDNKLRPDIGVKPTLIHTDMYVNSIGPVNAINMEYTIDIFFAQT
WYDRRLKFNSTIKVLRLNSNMVGKIWIPDTFFRNSKKADAHWITTPNRMLRIWNDGRVLY
TLRLTIDAECQLQLHNFPMDEHSCPLEFSSYGYPREEIVYQWKRSSVEVGDTRSWRLYQF
SFVGLRNTTEVVKTTSGDYVVMSVYFDLSRRMGYFTIQTYIPCTLIVVLSWVSFWINKDA
VPARTSLGITTVLTMTTLSTIARKSLPKVSYVTAMDLFVSVCFIFVFSALVEYGTLHYFV
SNRKPSKDKDKKKKNPAPTIDIRPRSATIQMNNATHLQERDEEYGYECLDGKDCASFFCC
FEDCRTGAWRHGRIHIRIAKMDSYARIFFPTAFCLFNLVYWVSYLYL
Number of residues
467
Molecular Weight
54161.78
Theoretical pI
8.6
GO Classification
Functions
benzodiazepine receptor activity / chloride channel activity / GABA-A receptor activity / inhibitory extracellular ligand-gated ion channel activity
Processes
adult behavior / cellular response to histamine / chloride transmembrane transport / gamma-aminobutyric acid signaling pathway / ion transmembrane transport / neurological system process / post-embryonic development / regulation of membrane potential / response to drug / synaptic transmission / synaptic transmission, GABAergic / transmembrane transport / transport
Components
axon / cell junction / chloride channel complex / dendrite membrane / GABA-A receptor complex / integral component of plasma membrane / neuron projection / plasma membrane / postsynaptic membrane / synapse
General Function
Inhibitory extracellular ligand-gated ion channel activity
Specific Function
Component 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 Regions
274-296 300-322 334-356 444-466
Cellular Location
Cell 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
Chromosome Location
5
Locus
5q31.1-q33.1
External Identifiers
ResourceLink
UniProtKB IDP18507
UniProtKB Entry NameGBRG2_HUMAN
GenBank Protein ID31637
GenBank Gene IDX15376
HGNC IDHGNC:4087
General 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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed:21714819]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00690Flurazepamapproved, illicit, investigationalyespotentiatorDetails
DB00842OxazepamapprovedyespotentiatorDetails
DB00231Temazepamapproved, investigationalyespotentiatorDetails
DB01558Bromazepamapproved, illicit, investigationalyespotentiatorDetails
DB00829Diazepamapproved, illicit, investigational, vet_approvedyespotentiatorDetails
DB01595NitrazepamapprovedyespotentiatorDetails
DB00897Triazolamapproved, investigationalyespotentiatorDetails
DB01381Ginkgo bilobaapproved, investigational, nutraceuticalunknownnegative modulatorDetails
DB01559Clotiazepamapproved, illicityespotentiatorDetails
DB01567Fludiazepamexperimental, illicityespotentiatorDetails
DB01588Prazepamapproved, illicityespotentiatorDetails
DB01594CinolazepamexperimentalyespotentiatorDetails
DB01589Quazepamapproved, illicityespotentiatorDetails
DB01215Estazolamapproved, illicityespotentiatorDetails
DB00801Halazepamapproved, illicit, withdrawnyespotentiatorDetails
DB00546AdinazolamexperimentalyespotentiatorDetails
DB01205FlumazenilapprovedyesantagonistDetails
DB09166EtizolamexperimentalyesagonistDetails
DB00395CarisoprodolapprovedunknownDetails
DB12458MuscimolinvestigationalunknownDetails
DB01544Flunitrazepamapproved, illicitunknownagonistDetails
DB00425ZolpidemapprovedunknownagonistDetails
DB13872Lormetazepamapprovedyespositive allosteric modulatorDetails
DB01189Desfluraneapprovedyespositive allosteric modulatorDetails
DB00659Acamprosateapproved, investigationalyespositive modulatorDetails
DB00404Alprazolamapproved, illicit, investigationalyespositive allosteric modulatorDetails
DB00237Butabarbitalapproved, illicityespositive allosteric modulatorDetails
DB00475Chlordiazepoxideapproved, illicit, investigationalyespositive allosteric modulatorDetails
DB00349Clobazamapproved, illicityespositive allosteric modulatorDetails
DB01068Clonazepamapproved, illicityespositive allosteric modulatorDetails
DB00628Clorazepic acidapproved, illicityespositive allosteric modulatorDetails
DB00186Lorazepamapprovedyespositive allosteric modulatorDetails
DB00189Ethchlorvynolapproved, illicit, withdrawnyespositive allosteric modulatorDetails
DB00228Enfluraneapproved, investigational, vet_approvedyespositive allosteric modulatorDetails
DB00231Temazepamapproved, investigationalyespositive allosteric modulatorDetails
DB00241Butalbitalapproved, illicityespositive allosteric modulatorDetails
DB00273Topiramateapprovedyespositive allosteric modulatorDetails
DB00292Etomidateapprovedyespositive allosteric modulatorDetails
DB00306Talbutalapproved, illicityespositive allosteric modulatorDetails
DB00312Pentobarbitalapproved, investigational, vet_approvedyespositive allosteric modulatorDetails
DB00371Meprobamateapproved, illicityespositive allosteric modulatorDetails
DB00402Eszopicloneapproved, investigationalyespositive allosteric modulatorDetails
DB00463Metharbitalwithdrawnyespositive allosteric modulatorDetails
DB00753Isofluraneapproved, vet_approvedyespositive allosteric modulatorDetails
DB00794Primidoneapproved, vet_approvedyespositive allosteric modulatorDetails
DB00801Halazepamapproved, illicit, withdrawnyespositive allosteric modulatorDetails
DB00818Propofolapproved, investigational, vet_approvedyespositive allosteric modulatorDetails
DB00829Diazepamapproved, illicit, investigational, vet_approvedyespositive allosteric modulatorDetails
DB00842Oxazepamapprovedyespositive allosteric modulatorDetails
DB00897Triazolamapproved, investigationalyespositive allosteric modulatorDetails
DB01028Methoxyfluraneapproved, investigational, vet_approvedyespositive allosteric modulatorDetails
DB01107Methyprylonapproved, illicit, withdrawnyespositive allosteric modulatorDetails
DB01159Halothaneapproved, vet_approvedyespositive allosteric modulatorDetails
DB01205Flumazenilapprovedyespositive allosteric modulatorDetails
DB01215Estazolamapproved, illicityespositive allosteric modulatorDetails
DB01236Sevofluraneapproved, vet_approvedyespositive allosteric modulatorDetails
DB01437Glutethimideapproved, illicityespositive allosteric modulatorDetails
DB01588Prazepamapproved, illicityespositive allosteric modulatorDetails
DB01589Quazepamapproved, illicityespositive allosteric modulatorDetails
DB00543AmoxapineapprovedunknownbinderDetails
DB00334Olanzapineapproved, investigationalunknowninhibitorDetails
DB01708Prasteroneapproved, investigational, nutraceuticalunknownantagonistDetails
DB11582ThiocolchicosideexperimentalyesantagonistDetails
DB09118Stiripentolapprovedyesagonistpositive allosteric modulatorDetails
DB01956Taurineapproved, nutraceuticalyesagonistDetails
DB00555Lamotrigineapproved, investigationalunknowninhibitorDetails
DB11901Apalutamideapproved, investigationalunknownantagonistDetails
DB06579Adipiploninvestigationalyespartial agonistDetails
DB139835,7,2′-trihydroxy-6,8-dimethoxyflavoneexperimentalunknownligandDetails
DB00555Lamotrigineapproved, investigationalunknowninhibitorDetails