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


RefSeq Accession Definition Services Price Order
NM_003919 Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 2, mRNA. ORF Sequence $381.06
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RefSeq Version NM_003919.2, 150378491
Length 1709 bp
Structure linear
Update Date 29-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 2, mRNA.
Product epsilon-sarcoglycan isoform 2
Comment

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..1359
Misc Feature(4)199..1359
Misc Feature(5)1063..1125
Exon (1)1..220
Gene:SGCE
Gene Synonym:DYT11; ESG
Exon (2)221..343
Gene:SGCE
Gene Synonym:DYT11; ESG
Exon (3)344..501
Gene:SGCE
Gene Synonym:DYT11; ESG
Exon (4)502..574
Gene:SGCE
Gene Synonym:DYT11; ESG
Exon (5)575..773
Gene:SGCE
Gene Synonym:DYT11; ESG
Exon (6)774..936
Gene:SGCE
Gene Synonym:DYT11; ESG
Exon (7)937..1148
Gene:SGCE
Gene Synonym:DYT11; ESG
Exon (8)1149..1175
Gene:SGCE
Gene Synonym:DYT11; ESG
Exon (9)1176..1364
Gene:SGCE
Gene Synonym:DYT11; ESG
Exon (10)1365..1408
Gene:SGCE
Gene Synonym:DYT11; ESG
Exon (11)1409..1700
Gene:SGCE
Gene Synonym:DYT11; ESG
Translation MQLPRWWELGDPCAWTGQGRGTRRMSPATTGTFLLTVYSIFSKVHSDRNVYPSAGVLFVH VLEREYFKGEFPPYPKPGEISNDPITFNTNLMGYPDRPGWLRYIQRTPYSDGVLYGSPTA ENVGKPTIIEITAYNRRTFETARHNLIINIMSAEDFPLPYQAEFFIKNMNVEEMLASEVL GDFLGAVKNVWQPERLNAINITSALDRGGRVPLPINDLKEGVYVMVGADVPFSSCLREVE NPQNQLRCSQEMEPVITCDKKFRTQFYIDWCKISLVDKTKQVSTYQEVIRGEGILPDGGE YKPPSDSLKSRDYYTDFLITLAVPSAVALVLFLILAYIMCCRREGVEKRNMQTPDIQLVH HSAIQKSTKELRDMSKNREIAWPLSTLPVFHPVTGEIIPPLHTDNYDSTNMPLMQTQQNL PHQTQIPQQQTTGKWYP
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Position Chain Variation Link
complement(125)-c, adbSNP:147148588
complement(132)-t, cdbSNP:201378067
complement(249)-dbSNP:
complement(249)-g, adbSNP:116632777
complement(250)-t, cdbSNP:199787155
complement(254)-t, cdbSNP:148483382
complement(257)-g, adbSNP:11548284
complement(348)-dbSNP:
complement(348)-g, cdbSNP:144527028
complement(388)-c, adbSNP:149295657
400+c, tdbSNP:121908489
complement(401)-g, adbSNP:11548285
complement(405)-g, adbSNP:138616225
415+c, tdbSNP:121908490
complement(419)-t, cdbSNP:200979763
complement(480)-g, cdbSNP:140913016
complement(481)-t, cdbSNP:142076876
complement(495)-g, adbSNP:138794751
complement(540)-dbSNP:
complement(540)-c, adbSNP:145010266
complement(621)-dbSNP:
complement(621)-g, adbSNP:55853245
complement(651)-g, adbSNP:199727473
complement(690)-t, cdbSNP:148169153
complement(694)-g, adbSNP:143839858
698+g, tdbSNP:121908491
complement(717)-t, cdbSNP:148979783
complement(800)-dbSNP:
complement(800)-g, adbSNP:201158658
complement(806)-g, adbSNP:200912914
complement(823)-t, cdbSNP:200035109
complement(827)-g, adbSNP:142833106
complement(880)-t, gdbSNP:116105264
complement(898)-g, adbSNP:199871508
complement(953)-dbSNP:
complement(953)-t, cdbSNP:200400681
complement(961)-t, cdbSNP:144287634
complement(966)-g, adbSNP:201234561
complement(995)-g, adbSNP:142079200
complement(1010)-c, adbSNP:11548286
complement(1078)-t, cdbSNP:147550814
complement(1086)-t, cdbSNP:145040065
complement(1166)-dbSNP:
complement(1166)-t, cdbSNP:186919286
complement(1183)-dbSNP:
complement(1183)-g, adbSNP:139062360
1225+c, tdbSNP:121908492
complement(1288)-t, cdbSNP:150797717
complement(1289)-g, adbSNP:200020922
complement(1307)-t, g, adbSNP:17851923
complement(1328)-t, cdbSNP:148660601
complement(1348)-g, adbSNP:147387740
complement(1392)-dbSNP:
complement(1392)-g, adbSNP:148126317
complement(1526)-dbSNP:
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
Chromosome7
Locus Map7q21.3
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001099400 Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 3, mRNA. Full Length $497.93
ORF Sequence $393.24
NM_001099401 Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 1, mRNA. Full Length $517.36
ORF Sequence $402.81
NM_003919 Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 2, mRNA. Full Length $495.61
ORF Sequence $381.06
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,K.J., Smith,D.J., Kurian,M.A., Wardle,M., Waite,A.J., Hedderly,T., Lin,J.P., 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,M.D., Chinnery,P.F., Warner,T.T., Blake,D.J., Owen,M.J. and Morris,H.R.
Journal Brain 136 (PT 1), 294-303 (2013)
Title Cognition and psychopathology in myoclonus-dystonia .
Author van Tricht,M.J., Dreissen,Y.E., Cath,D., Dijk,J.M., Contarino,M.F., van der Salm,S.M., Foncke,E.M., Groen,J.L., Schmand,B. and Tijssen,M.A.
Journal J. Neurol. Neurosurg. Psychiatr. 83 (8), 814-820 (2012)
Title A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype .
Author Tedroff,K., Rolfs,A. and Norling,A.
Journal Acta Paediatr. 101 (2), E90-E92 (2012)
Title Digital karyotyping reveals probable target genes at 7q21.3 locus in hepatocellular carcinoma .
Author Dong,H., Zhang,H., Liang,J., Yan,H., Chen,Y., Shen,Y., Kong,Y., Wang,S., Zhao,G. and Jin,W.
Journal BMC Med Genomics 4, 60 (2011)
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,P.P., Reik,W., Schwinger,E., Sperner,J., Ozelius,L., Kostic,V. and Klein,C.
Journal Am. J. Hum. Genet. 71 (6), 1303-1311 (2002)
Title Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex .
Author Barresi,R., Moore,S.A., Stolle,C.A., Mendell,J.R. and Campbell,K.P.
Journal J. Biol. Chem. 275 (49), 38554-38560 (2000)
Title Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31 .
Author Nygaard,T.G., Raymond,D., Chen,C., Nishino,I., Greene,P.E., Jennings,D., Heiman,G.A., Klein,C., Saunders-Pullman,R.J., Kramer,P., Ozelius,L.J. and Bressman,S.B.
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,E.M., Ly,C.T. and Kunkel,L.M.
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,A.J., Feng,G. and Sanes,J.R.
Journal J. Biol. Chem. 272 (51), 32534-32538 (1997)

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