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Database:

Blast Method:

 
 


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


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu18155 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu18155C Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA. Customized vector On-demand $269.00 7-9

*Business Day

Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_198903.2, 189083761
Length 1548 bp
Structure linear
Update Date 03-MAY-2014
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
36+dbSNP:
36+c, gdbSNP:373691169
119+c, tdbSNP:114796537
205+c, tdbSNP:3219203
315+g, tdbSNP:367762747
320+a, cdbSNP:371508835
337..338+, tdbSNP:36112889
367+g, tdbSNP:55716248
369+c, tdbSNP:375295110
382+a, cdbSNP:183259247
399+a, gdbSNP:61750979
410+c, gdbSNP:141106898
412+a, gdbSNP:200838780
448+g, tdbSNP:115976622
457+c, tdbSNP:368162707
493+dbSNP:
493+c, tdbSNP:375308385
521..522+, gdbSNP:35315145
529+g, tdbSNP:368962609
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
694+a, tdbSNP:370890791
709+g, tdbSNP:76898315
712+a, gdbSNP:61735412
718+a, gdbSNP:77298346
761+c, tdbSNP:74930063
767+c, tdbSNP:200828542
822+c, tdbSNP:267600531
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..1037+at, ggdbSNP:386694324
1036+a, g, tdbSNP:143065876
1037+g, tdbSNP:148215078
1042+c, tdbSNP:191391831
1061+g, tdbSNP:41311629
1063+a, cdbSNP:114972096
1098+c, tdbSNP:377438322
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
1342+c, tdbSNP:372757018
1420+dbSNP:
1420+a, gdbSNP:377502016
1446+a, gdbSNP:397514737
1450+a, gdbSNP:369614121
1456+c, tdbSNP:373993626
1461+a, tdbSNP:121909672
1474+c, tdbSNP:138964417
1477+a, tdbSNP:377638785
1478+a, gdbSNP:398123523
1480+a, gdbSNP:371601817
1531+a, gdbSNP:149472714
1548+a, gdbSNP:17855003
1565+c, tdbSNP:374512652
1571+c, tdbSNP:377035112
1588+a, tdbSNP:201824364
1619+dbSNP:
1619+c, tdbSNP:199574539
1623+c, tdbSNP:267600532
1631+dbSNP:
1631+c, gdbSNP:2229946
1667+a, gdbSNP:375785093
1670+c, tdbSNP:121909674
1682+a, g, tdbSNP:143945240
1732+c, tdbSNP:113085352
1733+a, gdbSNP:148232491
1749+a, gdbSNP:369200303
1762+c, tdbSNP:141138508
1798+a, gdbSNP:150727562
1828+c, tdbSNP:202246006
1947+c, tdbSNP:373649929
1957+a, gdbSNP:370402998
1991..1992+, tadbSNP:374804039
2023+a, cdbSNP:187224842
2043+g, tdbSNP:145318600
2153+c, tdbSNP:371389067
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
2648+c, tdbSNP:367757836
2649+a, gdbSNP:116673668
2700+a, gdbSNP:73316347
2703+g, tdbSNP:118064447
2747+a, tdbSNP:371240534
2951+a, gdbSNP:41304898
2976+a, gdbSNP:375311334
3099+c, tdbSNP:184725064
3333+c, tdbSNP:375013278
3334+a, gdbSNP:367974933
3335+, adbSNP:34809383
3348+a, gdbSNP:111695377
3374+a, gdbSNP:372041761
3403+c, tdbSNP:11956247
3614+c, tdbSNP:188046779
3621+c, gdbSNP:376466092
3833+a, cdbSNP:112419308
3861+g, tdbSNP:180905867
complement(3880)-g, adbSNP:150875037
complement(4001)-g, cdbSNP:138297122
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_198903 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA. On-demand $219.00 7-9
NM_198903 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA. On-demand $219.00 7-9
NM_198903 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA. On-demand $219.00 7-9
Title GABAA receptor alpha and gamma subunits shape synaptic currents via different mechanisms .
Author Dixon C, Sah P, Lynch JW and Keramidas A.
Journal J. Biol. Chem. 289 (9), 5399-5411 (2014)
Title GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures .
Author Balan S, Sathyan S, Radha SK, Joseph V, Radhakrishnan K and Banerjee M.
Journal Pharmacogenet. Genomics 23 (11), 605-610 (2013)
Title Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype .
Author Kang JQ, Shen W and Macdonald RL.
Journal Ann. Neurol. 74 (4), 547-559 (2013)
Title Specificity of intersubunit general anesthetic-binding sites in the transmembrane domain of the human alpha1beta3gamma2 gamma-aminobutyric acid type A (GABAA) receptor .
Author Chiara DC, Jayakar SS, Zhou X, Zhang X, Savechenkov PY, Bruzik KS, Miller KW and Cohen JB.
Journal J. Biol. Chem. 288 (27), 19343-19357 (2013)
Title A unified model of the GABA(A) receptor comprising agonist and benzodiazepine binding sites .
Author Bergmann R, Kongsbak K, Sorensen PL, Sander T and Balle T.
Journal PLoS ONE 8 (1), E52323 (2013)
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 ND, Levy ER, Monaco AP 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 SJ and Farb DH.
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 SJ, Doherty CA and Huganir RL.
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 AS, Warrington JA, Gardiner K, Berger R, Whiting P, Altherr MR, Wasmuth JJ, Patterson D and Sikela JM.
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 DB, Sontheimer H, Shivers BD, Ymer S, Kettenmann H, Schofield PR and Seeburg PH.
Journal Nature 338 (6216), 582-585 (1989)

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