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Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000231 Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA. GenEZ ORF Cloning On-demand $449.00 14

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RefSeq Version NM_000231.2, 209529740
Length 1661 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA.
Product gamma-sarcoglycan
Comment

Summary: This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008].

RefSeq NP_000222.1
CDS 156..1031
Misc Feature(1)72..74
Misc Feature(2)222..1007
Misc Feature(3)222..1007
Misc Feature(4)267..329
Exon (1)1..155
Gene:SGCG
Gene Synonym:A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE
Exon (2)156..350
Gene:SGCG
Gene Synonym:A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE
Exon (3)351..452
Gene:SGCG
Gene Synonym:A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE
Exon (4)453..540
Gene:SGCG
Gene Synonym:A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE
Exon (5)541..660
Gene:SGCG
Gene Synonym:A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE
Exon (6)661..733
Gene:SGCG
Gene Synonym:A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE
Exon (7)734..857
Gene:SGCG
Gene Synonym:A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE
Exon (8)858..1655
Gene:SGCG
Gene Synonym:A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE
Translation MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKV MWFSPAGMGHLCVTKDGLRLEGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEG EVTGRLKVGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVVGTDKLRVTGPEGALFEHSVE TPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALSQMDILFHSSDGMLVLDAE TVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHSHICL
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Position Chain Variation Link
68+a, gdbSNP:4770403
150+c, tdbSNP:141771521
162+dbSNP:
162+c, tdbSNP:140310896
163+a, gdbSNP:35105771
172+a, gdbSNP:148041867
236+c, tdbSNP:202078221
249+a, gdbSNP:76916029
257+c, tdbSNP:140810408
267+c, tdbSNP:1800349
275+c, tdbSNP:150172457
312+c, tdbSNP:138880406
367+dbSNP:
367+c, tdbSNP:143009120
383+c, tdbSNP:1800350
390+c, tdbSNP:148404730
392+c, tdbSNP:201144588
422+a, gdbSNP:149595403
458+dbSNP:
458+a, cdbSNP:144277094
459+c, tdbSNP:201683351
467+g, tdbSNP:1800351
481+a, gdbSNP:201514102
500+a, gdbSNP:1800352
501+c, tdbSNP:191040430
502+a, gdbSNP:17314986
526+g, tdbSNP:183204936
590+dbSNP:
590+c, tdbSNP:35628352
593+c, tdbSNP:144497243
610+c, tdbSNP:201329880
621+a, gdbSNP:181210672
662+dbSNP:
662+g, tdbSNP:199905729
677+c, tdbSNP:146679977
690+a, gdbSNP:139072866
694+a, tdbSNP:114160429
751+dbSNP:
751+a, gdbSNP:200191311
770+a, cdbSNP:142409090
808+c, tdbSNP:202045534
860+dbSNP:
860+c, tdbSNP:1800353
861+a, gdbSNP:201788230
871+c, tdbSNP:149086397
906+a, gdbSNP:201535503
942+a, gdbSNP:104894423
958+c, tdbSNP:143110015
987+a, gdbSNP:147820869
1003+a, gdbSNP:104894422
1015+a, gdbSNP:1800354
1041+a, gdbSNP:139369964
1044+c, tdbSNP:9510701
1084+a, cdbSNP:188804783
1085+c, tdbSNP:193022162
1132+a, cdbSNP:75252896
1144..1158+, ccagaggaactcagadbSNP:149533619
1167+a, g, tdbSNP:3751372
1176+c, gdbSNP:150043089
1198+c, tdbSNP:145339454
1216+a, gdbSNP:115918628
1285+c, tdbSNP:3751371
1326+a, gdbSNP:3829352
1327+a, gdbSNP:115862132
1333+g, tdbSNP:78718194
1509+a, cdbSNP:184625354
1536+a, gdbSNP:7329620
1577+c, tdbSNP:41283956
1643+a, gdbSNP:147879467
Gene SymbolSGCG
Gene SynonymA4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE
Chromosome13
Locus Map13q12
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000231 Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA. On-demand $449.00 14
Title A delta-sarcoglycan gene polymorphism as a risk factor for hypertrophic cardiomyopathy .
Author Ordonez-Razo,R.M., Garrido-Garduno,M.H., Perez-Martinez,R.A., Ruiz,V.M., Herrera-Tepatlan,E., Rodriguez-Cruz,M., Jimenez-Vaca,A.L., Minauro-Sanmiguel,F. and Salamanca-Gomez,F.A.
Journal Genet Test Mol Biomarkers 16 (8), 855-858 (2012)
Title Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster .
Author Frank,J., Cichon,S., Treutlein,J., Ridinger,M., Mattheisen,M., Hoffmann,P., Herms,S., Wodarz,N., Soyka,M., Zill,P., Maier,W., Mossner,R., Gaebel,W., Dahmen,N., Scherbaum,N., Schmal,C., Steffens,M., Lucae,S., Ising,M., Muller-Myhsok,B., Nothen,M.M., Mann,K., Kiefer,F. and Rietschel,M.
Journal Addict Biol 17 (1), 171-180 (2012)
Title Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes .
Author Smith,E.N., Koller,D.L., Panganiban,C., Szelinger,S., Zhang,P., Badner,J.A., Barrett,T.B., Berrettini,W.H., Bloss,C.S., Byerley,W., Coryell,W., Edenberg,H.J., Foroud,T., Gershon,E.S., Greenwood,T.A., Guo,Y., Hipolito,M., Keating,B.J., Lawson,W.B., Liu,C., Mahon,P.B., McInnis,M.G., McMahon,F.J., McKinney,R., Murray,S.S., Nievergelt,C.M., Nurnberger,J.I. Jr., Nwulia,E.A., Potash,J.B., Rice,J., Schulze,T.G., Scheftner,W.A., Shilling,P.D., Zandi,P.P., Zollner,S., Craig,D.W., Schork,N.J. and Kelsoe,J.R.
Journal PLoS Genet. 7 (6), E1002134 (2011)
Title C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy .
Author Spengos,K., Walter,M.C., Dekomien,G., Papadopoulos,K., Lochmuller,H. and Manta,P.
Journal Eur. J. Neurol. 17 (6), E41-E42 (2010)
Title Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD .
Author Okizuka,Y., Takeshima,Y., Itoh,K., Zhang,Z., Awano,H., Maruyama,K., Kumagai,T., Yagi,M. and Matsuo,M.
Journal BMC Med. Genet. 11, 49 (2010)
Title Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation .
Author McNally,E.M., Passos-Bueno,M.R., Bonnemann,C.G., Vainzof,M., de Sa Moreira,E., Lidov,H.G., Othmane,K.B., Denton,P.H., Vance,J.M., Zatz,M. and Kunkel,L.M.
Journal Am. J. Hum. Genet. 59 (5), 1040-1047 (1996)
Title Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12 .
Author Jung,D., Leturcq,F., Sunada,Y., Duclos,F., Tome,F.M., Moomaw,C., Merlini,L., Azibi,K., Chaouch,M., Slaughter,C., Fardeau,M., Kaplan,J.C. and Campbell,K.P.
Journal FEBS Lett. 381 (1-2), 15-20 (1996)
Title Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy .
Author Noguchi,S., McNally,E.M., Ben Othmane,K., Hagiwara,Y., Mizuno,Y., Yoshida,M., Yamamoto,H., Bonnemann,C.G., Gussoni,E., Denton,P.H., Kyriakides,T., Middleton,L., Hentati,F., Ben Hamida,M., Nonaka,I., Vance,J.M., Kunkel,L.M. and Ozawa,E.
Journal Science 270 (5237), 819-822 (1995)
Title Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C) .
Author Ben Othmane,K., Speer,M.C., Stauffer,J., Blel,S., Middleton,L., Ben Hamida,C., Etribi,A., Loeb,D., Hentati,F., Roses,A.D. et al.
Journal Am. J. Hum. Genet. 57 (3), 732-734 (1995)
Title Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping .
Author Jorde,L.B., Watkins,W.S., Viskochil,D., O'Connell,P. and Ward,K.
Journal Am. J. Hum. Genet. 53 (5), 1038-1050 (1993)


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