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
- Functionsbenzodiazepine receptor activity / chloride channel activity / GABA-A receptor activity / inhibitory extracellular ligand-gated ion channel activityProcessesadult 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 / transportComponentsaxon / 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
Resource Link UniProtKB ID P18507 UniProtKB Entry Name GBRG2_HUMAN GenBank Protein ID 31637 GenBank Gene ID X15376 HGNC ID HGNC:4087 - General References
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
Drug Relations
- Drug Relations
DrugBank ID Name Drug group Pharmacological action? Actions Details DB01381 Ginkgo biloba approved, investigational, nutraceutical unknown negative modulator Details DB01567 Fludiazepam experimental, illicit yes potentiator Details DB01205 Flumazenil approved yes antagonist Details DB00395 Carisoprodol approved unknown Details DB12458 Muscimol investigational unknown Details DB00425 Zolpidem approved unknown agonist Details DB01189 Desflurane approved yes positive allosteric modulator Details DB00404 Alprazolam approved, illicit, investigational yes positive allosteric modulator Details DB00237 Butabarbital approved, illicit yes positive allosteric modulator Details DB00475 Chlordiazepoxide approved, illicit, investigational yes positive allosteric modulator Details DB00349 Clobazam approved, illicit yes positive allosteric modulator Details DB01068 Clonazepam approved, illicit yes positive allosteric modulator Details DB00628 Clorazepic acid approved, illicit yes positive allosteric modulator Details DB00186 Lorazepam approved yes positive allosteric modulator Details DB00189 Ethchlorvynol approved, illicit, withdrawn yes positive allosteric modulator Details DB00228 Enflurane approved, investigational, vet_approved yes potentiator Details DB00231 Temazepam approved, investigational yes positive allosteric modulator Details DB00241 Butalbital approved, illicit yes positive allosteric modulator Details DB00292 Etomidate approved yes positive allosteric modulator Details DB00306 Talbutal approved, illicit yes positive allosteric modulator Details DB00312 Pentobarbital approved, investigational, vet_approved yes positive allosteric modulator Details DB00371 Meprobamate approved, illicit yes positive allosteric modulator Details DB00402 Eszopiclone approved, investigational yes positive allosteric modulator Details DB00463 Metharbital withdrawn yes positive allosteric modulator Details DB00753 Isoflurane approved, vet_approved yes positive allosteric modulator Details DB00794 Primidone approved, vet_approved yes positive allosteric modulator Details DB00801 Halazepam approved, illicit, withdrawn yes positive allosteric modulator Details DB00818 Propofol approved, investigational, vet_approved yes positive allosteric modulator Details DB00829 Diazepam approved, illicit, investigational, vet_approved yes positive allosteric modulator Details DB00842 Oxazepam approved yes positive allosteric modulator Details DB01028 Methoxyflurane approved, investigational, vet_approved, withdrawn yes positive allosteric modulator Details DB01107 Methyprylon approved, illicit, withdrawn yes positive allosteric modulator Details DB01159 Halothane approved, vet_approved yes positive allosteric modulator Details DB01205 Flumazenil approved yes positive allosteric modulator Details DB01215 Estazolam approved, illicit yes positive allosteric modulator Details DB01236 Sevoflurane approved, vet_approved yes agonist Details DB01437 Glutethimide approved, illicit yes positive allosteric modulator Details DB01588 Prazepam approved, illicit yes positive allosteric modulator Details DB01589 Quazepam approved, illicit yes positive allosteric modulator Details DB00543 Amoxapine approved unknown binder Details DB01708 Prasterone approved, investigational, nutraceutical unknown antagonist Details DB11582 Thiocolchicoside experimental yes antagonist Details DB09118 Stiripentol approved yes agonistpositive allosteric modulator Details DB01956 Taurine approved, nutraceutical yes agonist Details DB00555 Lamotrigine approved, investigational unknown antagonistinducer Details DB11901 Apalutamide approved, investigational no antagonist Details DB11859 Brexanolone approved, investigational yes positive allosteric modulator Details DB01043 Memantine approved, investigational unknown binder Details DB00603 Medroxyprogesterone acetate approved, investigational unknown inhibitor Details DB00252 Phenytoin approved, vet_approved unknown Details DB00683 Midazolam approved, illicit yes positive allosteric modulator Details DB00690 Flurazepam approved, illicit, investigational yes positive allosteric modulator Details DB00897 Triazolam approved, investigational yes positive allosteric modulator Details DB01558 Bromazepam approved, illicit, investigational yes positive allosteric modulator Details DB01595 Nitrazepam approved yes positive allosteric modulator Details DB01489 Camazepam experimental, illicit yes positive allosteric modulator Details DB01511 Delorazepam experimental, illicit yes positive allosteric modulator Details DB01544 Flunitrazepam approved, illicit yes positive allosteric modulator Details DB09166 Etizolam experimental yes positive allosteric modulator Details DB13437 Medazepam experimental yes positive allosteric modulator Details DB13837 Doxefazepam experimental yes positive allosteric modulator Details DB13872 Lormetazepam approved yes positive allosteric modulator Details DB14028 Nordazepam experimental yes positive allosteric modulator Details DB00546 Adinazolam experimental yes positive allosteric modulator Details DB01545 Ethyl loflazepate experimental, illicit yes positive allosteric modulator Details DB01553 Cloxazolam experimental yes positive allosteric modulator Details DB01559 Clotiazepam approved, illicit yes positive allosteric modulator Details DB01587 Ketazolam approved yes positive allosteric modulator Details DB01594 Cinolazepam experimental yes positive allosteric modulator Details DB09017 Brotizolam investigational, withdrawn yes positive allosteric modulator Details DB13335 Pinazepam experimental yes positive allosteric modulator Details DB13643 Loprazolam experimental yes positive allosteric modulator Details DB14672 Oxazepam acetate experimental yes positive allosteric modulator Details DB12537 1,2-Benzodiazepine approved, investigational unknown positive allosteric modulator Details DB14715 Cinazepam experimental yes positive allosteric modulator Details DB14719 Bentazepam experimental yes positive allosteric modulator Details DB15489 Mexazolam experimental yes positive allosteric modulator Details DB12404 Remimazolam approved, investigational yes positive allosteric modulator Details DB05087 Ganaxolone approved, investigational yes positive allosteric modulator Details DB15490 Zuranolone approved, experimental yes positive allosteric modulator Details DB06579 Adipiplon investigational yes partial agonist Details DB13983 5,7,2′-trihydroxy-6,8-dimethoxyflavone experimental unknown ligand Details DB00555 Lamotrigine approved, investigational unknown inhibitor Details DB00334 Olanzapine approved, investigational no inhibitor Details DB15489 Mexazolam experimental yes ligand Details DB00842 Oxazepam approved yes ligand Details DB00404 Alprazolam approved, illicit, investigational yes ligand Details DB00186 Lorazepam approved yes ligand Details DB00231 Temazepam approved, investigational unknown ligand Details DB00475 Chlordiazepoxide approved, illicit, investigational yes ligand Details DB00628 Clorazepic acid approved, illicit yes ligand Details DB00683 Midazolam approved, illicit yes ligand Details DB00690 Flurazepam approved, illicit, investigational yes ligand Details DB00829 Diazepam approved, illicit, investigational, vet_approved yes ligand Details DB00897 Triazolam approved, investigational yes ligand Details DB01068 Clonazepam approved, illicit yes ligand Details DB01215 Estazolam approved, illicit yes ligand Details DB01558 Bromazepam approved, illicit, investigational yes ligand Details DB01595 Nitrazepam approved yes ligand Details DB00349 Clobazam approved, illicit yes ligand Details DB01489 Camazepam experimental, illicit yes ligand Details DB01511 Delorazepam experimental, illicit yes ligand Details DB01544 Flunitrazepam approved, illicit yes ligand Details DB01588 Prazepam approved, illicit yes ligand Details DB09166 Etizolam experimental yes ligand Details DB13437 Medazepam experimental yes ligand Details DB13837 Doxefazepam experimental yes ligand Details DB13872 Lormetazepam approved yes ligand Details DB14028 Nordazepam experimental yes ligand Details DB00546 Adinazolam experimental yes ligand Details DB00801 Halazepam approved, illicit, withdrawn unknown ligand Details DB01545 Ethyl loflazepate experimental, illicit yes ligand Details DB01553 Cloxazolam experimental yes ligand Details DB01559 Clotiazepam approved, illicit yes ligand Details DB01587 Ketazolam approved yes ligand Details DB01594 Cinolazepam experimental yes ligand Details DB09017 Brotizolam investigational, withdrawn yes ligand Details DB13335 Pinazepam experimental yes ligand Details DB13643 Loprazolam experimental unknown ligand Details DB01589 Quazepam approved, illicit yes ligand Details DB14672 Oxazepam acetate experimental yes ligand Details DB12537 1,2-Benzodiazepine approved, investigational unknown ligand Details DB14715 Cinazepam experimental yes ligand Details DB14719 Bentazepam experimental yes ligand Details DB12404 Remimazolam approved, investigational yes ligand Details DB00909 Zonisamide approved, investigational unknown binder Details