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Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 2, mRNA.

Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu25888 Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu25888C Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 2, mRNA. Customized vector On-demand $269.00 7-9

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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_003919.2, 150378491
Length 1314 bp
Update Date 24-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 2, mRNA.
Product epsilon-sarcoglycan isoform 2

Summary: This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2010].

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2) that has a shorter C-terminus, compared to isoform 1.

RefSeq NP_003910.1
CDS 112..1425
Misc Feature(1)34..36
Misc Feature(2)34..36
Misc Feature(3)199..1365
Misc Feature(4)199..1365
Misc Feature(5)262..576
Misc Feature(6)order(271..276,466..468,472..474)
Misc Feature(7)1063..1125
Exon (1)1..220
Gene Synonym:DYT11; ESG
Exon (2)221..343
Gene Synonym:DYT11; ESG
Exon (3)344..501
Gene Synonym:DYT11; ESG
Exon (4)502..574
Gene Synonym:DYT11; ESG
Exon (5)575..773
Gene Synonym:DYT11; ESG
Exon (6)774..936
Gene Synonym:DYT11; ESG
Exon (7)937..1148
Gene Synonym:DYT11; ESG
Exon (8)1149..1175
Gene Synonym:DYT11; ESG
Exon (9)1176..1364
Gene Synonym:DYT11; ESG
Exon (10)1365..1408
Gene Synonym:DYT11; ESG
Exon (11)1409..1700
Gene Synonym:DYT11; ESG
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Position Chain Variation Link
complement(122)-g, adbSNP:372207991
complement(125)-c, adbSNP:147148588
complement(132)-t, cdbSNP:201378067
complement(161)-c, adbSNP:373127563
complement(221)-g, adbSNP:369006527
complement(249)-g, adbSNP:116632777
complement(250)-t, cdbSNP:199787155
complement(254)-t, cdbSNP:148483382
257+a, gdbSNP:11548284
complement(346)-t, cdbSNP:375983969
complement(348)-g, cdbSNP:144527028
complement(388)-c, adbSNP:149295657
400+c, tdbSNP:121908489
401+a, gdbSNP:11548285
complement(405)-g, adbSNP:138616225
415+c, tdbSNP:121908490
complement(419)-t, cdbSNP:200979763
complement(439)-t, cdbSNP:370382282
complement(478)-t, cdbSNP:369755440
complement(480)-g, cdbSNP:140913016
complement(481)-t, cdbSNP:142076876
complement(495)-g, adbSNP:138794751
complement(502)-t, cdbSNP:370609227
complement(540)-c, adbSNP:145010266
complement(621)-g, adbSNP:55853245
complement(649)-t, gdbSNP:376936851
complement(651)-g, adbSNP:199727473
complement(690)-t, cdbSNP:148169153
complement(694)-g, adbSNP:143839858
698+g, tdbSNP:121908491
complement(702)-g, adbSNP:372968907
complement(717)-t, cdbSNP:148979783
complement(771)-g, cdbSNP:369157830
complement(781)-t, cdbSNP:374149816
complement(800)-g, adbSNP:201158658
complement(806)-g, adbSNP:200912914
820+c, tdbSNP:398123812
complement(823)-t, cdbSNP:200035109
complement(827)-g, adbSNP:142833106
complement(880)-t, gdbSNP:116105264
complement(898)-g, adbSNP:199871508
complement(899)-t, cdbSNP:375899729
complement(923)-t, cdbSNP:372686312
complement(953)-t, cdbSNP:200400681
complement(966)-g, adbSNP:201234561
complement(995)-g, adbSNP:142079200
complement(997)-g, adbSNP:375828258
1010+a, cdbSNP:11548286
complement(1078)-t, cdbSNP:147550814
complement(1086)-t, cdbSNP:145040065
complement(1166)-t, cdbSNP:186919286
complement(1183)-g, adbSNP:139062360
1225+c, tdbSNP:121908492
complement(1226)-t, cdbSNP:373904456
complement(1268)-g, adbSNP:370800943
complement(1269)-t, cdbSNP:368276611
complement(1276)-g, cdbSNP:374697567
complement(1288)-t, cdbSNP:150797717
complement(1289)-g, adbSNP:200020922
complement(1307)-t, gdbSNP:17851923
complement(1328)-t, cdbSNP:148660601
complement(1348)-g, adbSNP:147387740
complement(1392)-g, adbSNP:148126317
complement(1396)-g, cdbSNP:371568101
complement(1401)-t, cdbSNP:370115639
complement(1526)-t, cdbSNP:193172306
complement(1597)-g, adbSNP:112954947
complement(1635)-g, adbSNP:188526246
complement(1697)-g, adbSNP:11984148
Gene SymbolSGCE
Gene SynonymDYT11; ESG
Locus Map7q21.3
Title A novel conserved mutation in SGCE gene in 3 unrelated patients with classical phenotype myoclonus-dystonia syndrome .
Author Szubiga M, Rudzinska M, Bik-Multanowski M, Pietrzyk JJ and Szczudlik A.
Journal Neurol. Res. 35 (6), 659-662 (2013)
Title Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria .
Author Carecchio M, Magliozzi M, Copetti M, Ferraris A, Bernardini L, Bonetti M, Defazio G, Edwards MJ, Torrente I, Pellegrini F, Comi C, Bhatia KP and Valente EM.
Journal Mov. Disord. 28 (6), 787-794 (2013)
Title Metabolic changes in DYT11 myoclonus-dystonia .
Author Carbon M, Raymond D, Ozelius L, Saunders-Pullman R, Frucht S, Dhawan V, Bressman S and Eidelberg D.
Journal Neurology 80 (4), 385-391 (2013)
Title SGCE mutations cause psychiatric disorders: clinical and genetic characterization .
Author Peall KJ, Smith DJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A, Pall H, White C, Lux A, Jardine P, Bajaj N, Lynch B, Kirov G, O'Riordan S, Samuel M, Lynch T, King MD, Chinnery PF, Warner TT, Blake DJ, Owen MJ and Morris HR.
Journal Brain 136 (PT 1), 294-303 (2013)
Title Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia .
Author Muller B, Hedrich K, Kock N, Dragasevic N, Svetel M, Garrels J, Landt O, Nitschke M, Pramstaller PP, Reik W, Schwinger E, Sperner J, Ozelius L, Kostic V and Klein C.
Journal Am. J. Hum. Genet. 71 (6), 1303-1311 (2002)
Title Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31 .
Author Nygaard TG, Raymond D, Chen C, Nishino I, Greene PE, Jennings D, Heiman GA, Klein C, Saunders-Pullman RJ, Kramer P, Ozelius LJ and Bressman SB.
Journal Ann. Neurol. 46 (5), 794-798 (1999)
Title Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene .
Author McNally EM, Ly CT and Kunkel LM.
Journal FEBS Lett. 422 (1), 27-32 (1998)
Title epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D .
Author Ettinger AJ, Feng G and Sanes JR.
Journal J. Biol. Chem. 272 (51), 32534-32538 (1997)
Title Myoclonus-Dystonia .
Author Raymond,D. and Ozelius,L.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Dystonia Overview .
Author Klein,C., Marras,C. and Munchau,A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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