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Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_198903 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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RefSeq Version NM_198903.2, 189083761
Length 4077 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.
Product gamma-aminobutyric acid receptor subunit gamma-2 isoform 3 precursor
Comment

Summary: This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (3) encodes the longest isoform (3).


Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.

RefSeq NP_944493.2
CDS 359..1906
Misc Feature(1)290..292
Misc Feature(2)563..1894
Misc Feature(3)563..1294
Misc Feature(4)1313..1885
Exon (1)1..465
Gene:GABRG2
Gene Synonym:CAE2; ECA2; GEFSP3
Exon (2)466..617
Gene:GABRG2
Gene Synonym:CAE2; ECA2; GEFSP3
Exon (3)618..685
Gene:GABRG2
Gene Synonym:CAE2; ECA2; GEFSP3
Exon (4)686..906
Gene:GABRG2
Gene Synonym:CAE2; ECA2; GEFSP3
Exon (5)907..989
Gene:GABRG2
Gene Synonym:CAE2; ECA2; GEFSP3
Exon (6)990..1109
Gene:GABRG2
Gene Synonym:CAE2; ECA2; GEFSP3
Exon (7)1110..1247
Gene:GABRG2
Gene Synonym:CAE2; ECA2; GEFSP3
Exon (8)1248..1400
Gene:GABRG2
Gene Synonym:CAE2; ECA2; GEFSP3
Exon (9)1401..1606
Gene:GABRG2
Gene Synonym:CAE2; ECA2; GEFSP3
Exon (10)1607..1630
Gene:GABRG2
Gene Synonym:CAE2; ECA2; GEFSP3
Exon (11)1631..4077
Gene:GABRG2
Gene Synonym:CAE2; ECA2; GEFSP3
Translation MSSPNIWSTGSSVYSTPVFSQKMTVWILLLLSLYPGFTSQKSDDDYEDYASNKTWVLTPK VPEGDVTVILNNLLEGYDNKLRPDIGVKPTLIHTDMYVNSIGPVNAINMEYTIDIFFAQT WYDRRLKFNSTIKVLRLNSNMVGKIWIPDTFFRNSKKADAHWITTPNRMLRIWNDGRVLY TLRLTIDAECQLQLHNFPMDEHSCPLEFSSWSRSIAQAGMCSGVISAHYSLRFWGSTDPP TLASRVAGISDGYPREEIVYQWKRSSVEVGDTRSWRLYQFSFVGLRNTTEVVKTTSGDYV VMSVYFDLSRRMGYFTIQTYIPCTLIVVLSWVSFWINKDAVPARTSLGITTVLTMTTLST IARKSLPKVSYVTAMDLFVSVCFIFVFSALVEYGTLHYFVSNRKPSKDKDKKKKNPLLRM FSFKAPTIDIRPRSATIQMNNATHLQERDEEYGYECLDGKDCASFFCCFEDCRTGAWRHG RIHIRIAKMDSYARIFFPTAFCLFNLVYWVSYLYL
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Position Chain Variation Link
119+dbSNP:
119+c, tdbSNP:114796537
205+c, tdbSNP:3219203
337..338+, tdbSNP:36112889
367+g, tdbSNP:55716248
382+a, cdbSNP:183259247
399+a, gdbSNP:61750979
410+c, gdbSNP:141106898
412+a, gdbSNP:200838780
448+g, tdbSNP:115976622
521..522+dbSNP:
521..522+, gdbSNP:35315145
576+c, tdbSNP:112586362
594+a, gdbSNP:112894280
601+a, tdbSNP:143295869
602+c, tdbSNP:146470870
603+a, gdbSNP:121909673
673+dbSNP:
673+c, tdbSNP:11135176
692+dbSNP:
692+a, gdbSNP:111782778
709+g, tdbSNP:76898315
712+a, gdbSNP:61735412
718+a, gdbSNP:77298346
761+c, tdbSNP:74930063
767+c, tdbSNP:200828542
887+c, gdbSNP:267606837
943+dbSNP:
943+c, tdbSNP:150134470
946+c, tdbSNP:211037
985+a, cdbSNP:17855004
1001+dbSNP:
1001+a, gdbSNP:211035
1036+a, gdbSNP:143065876
1037+g, tdbSNP:148215078
1042+c, tdbSNP:191391831
1061+g, tdbSNP:41311629
1063+a, cdbSNP:114972096
1195+dbSNP:
1195+a, gdbSNP:78261481
1196+a, tdbSNP:52792201
1237+a, gdbSNP:202124575
1246+c, tdbSNP:201672465
1276+dbSNP:
1276+c, tdbSNP:115126975
1288+a, gdbSNP:200449368
1461+dbSNP:
1461+a, tdbSNP:121909672
1474+c, tdbSNP:138964417
1531+a, gdbSNP:149472714
1548+a, gdbSNP:17855003
1588+a, tdbSNP:201824364
1619+dbSNP:
1619+c, tdbSNP:199574539
1631+dbSNP:
1631+c, gdbSNP:2229946
1670+c, tdbSNP:121909674
1682+g, tdbSNP:143945240
1732+c, tdbSNP:113085352
1733+a, gdbSNP:148232491
1762+c, tdbSNP:141138508
1798+a, gdbSNP:150727562
1828+c, tdbSNP:202246006
2023+a, cdbSNP:187224842
2043+g, tdbSNP:145318600
2167+a, gdbSNP:148001179
2249+a, gdbSNP:41275341
2254+a, gdbSNP:192973258
2291+a, gdbSNP:185169107
2342+a, gdbSNP:3180569
2347+a, c, tdbSNP:188825588
2461+a, cdbSNP:193024691
2515+c, tdbSNP:418210
2567+a, tdbSNP:424740
2649+a, gdbSNP:116673668
2700+a, gdbSNP:73316347
2703+g, tdbSNP:118064447
2951+a, gdbSNP:41304898
3099+c, tdbSNP:184725064
3335+, adbSNP:34809383
3348+a, gdbSNP:111695377
3403+c, tdbSNP:11956247
3614+c, tdbSNP:188046779
3833+a, cdbSNP:112419308
3861+g, tdbSNP:180905867
3880+a, gdbSNP:150875037
4001+c, gdbSNP:138297122
4025..4026+, atdbSNP:72547046
4026..4027+, atdbSNP:34705786
4027+c, tdbSNP:200339735
4053+c, tdbSNP:183746824
4070+a, gdbSNP:189481479
Gene SymbolGABRG2
Gene SynonymCAE2; ECA2; GEFSP3
Chromosome5
Locus Map5q34
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000816 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 2, mRNA. On-demand $699.00 18
NM_198903 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA. On-demand $699.00 18
NM_198904 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 1, mRNA. On-demand $699.00 18
Title The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through .
Author Huang,X., Tian,M., Hernandez,C.C., Hu,N. and Macdonald,R.L.
Journal Neurobiol. Dis. 48 (1), 115-123 (2012)
Title Investigation of the role of the GABRG2 gene variant in migraine .
Author Chen,T., Murrell,M., Fowdar,J., Roy,B., Grealy,R. and Griffiths,L.R.
Journal J. Neurol. Sci. 318 (1-2), 112-114 (2012)
Title Role of MDR1 C3435T and GABRG2 C588T gene polymorphisms in seizure occurrence and MDR1 effect on anti-epileptic drug (phenytoin) absorption .
Author Ponnala,S., Chaudhari,J.R., Jaleel,M.A., Bhiladvala,D., Kaipa,P.R., Das,U.N. and Hasan,Q.
Journal Genet Test Mol Biomarkers 16 (6), 550-557 (2012)
Title The intronic GABRG2 mutation, IVS6+2T->G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated gamma2 subunit .
Author Tian,M. and Macdonald,R.L.
Journal J. Neurosci. 32 (17), 5937-5952 (2012)
Title Generalised epilepsy with febrile seizures plus (GEFS(+)): molecular analysis in a restricted area .
Author Polizzi,A., Incorpora,G., Pavone,P., Ruggieri,M., Annesi,G., Gambardella,A., Pavone,L. and Quattrone,A.
Journal Childs Nerv Syst 28 (1), 141-145 (2012)
Title Assignment of genes encoding GABAA receptor subunits alpha 1, alpha 6, beta 2, and gamma 2 to a YAC contig of 5q33 .
Author Kostrzewa,M., Kohler,A., Eppelt,K., Hellam,L., Fairweather,N.D., Levy,E.R., Monaco,A.P. and Muller,U.
Journal Eur. J. Hum. Genet. 4 (4), 199-204 (1996)
Title Mapping of the beta 2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 defines a gene cluster for the most abundant .
Author Russek,S.J. and Farb,D.H.
Journal Genomics 23 (3), 528-533 (1994)
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 .
Author Moss,S.J., Doherty,C.A. and Huganir,R.L.
Journal J. Biol. Chem. 267 (20), 14470-14476 (1992)
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 .
Author Wilcox,A.S., Warrington,J.A., Gardiner,K., Berger,R., Whiting,P., Altherr,M.R., Wasmuth,J.J., Patterson,D. and Sikela,J.M.
Journal Proc. Natl. Acad. Sci. U.S.A. 89 (13), 5857-5861 (1992)
Title Importance of a novel GABAA receptor subunit for benzodiazepine pharmacology .
Author Pritchett,D.B., Sontheimer,H., Shivers,B.D., Ymer,S., Kettenmann,H., Schofield,P.R. and Seeburg,P.H.
Journal Nature 338 (6216), 582-585 (1989)


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