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Homo sapiens sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) (SGCB), mRNA.


RefSeq Accession Definition Services Price Order
NM_000232 Homo sapiens sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) (SGCB), mRNA. ORF Sequence $277.53
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RefSeq Version NM_000232.4, 209693454
Length 4295 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) (SGCB), mRNA.
Product beta-sarcoglycan
Comment

Summary: This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008].

RefSeq NP_000223.1
CDS 61..1017
Misc Feature(1)214..972
Misc Feature(2)214..972
Misc Feature(3)256..318
Exon (1)1..93
Gene:SGCB
Gene Synonym:A3b; LGMD2E; SGC
Exon (2)94..303
Gene:SGCB
Gene Synonym:A3b; LGMD2E; SGC
Exon (3)304..489
Gene:SGCB
Gene Synonym:A3b; LGMD2E; SGC
Exon (4)490..681
Gene:SGCB
Gene Synonym:A3b; LGMD2E; SGC
Exon (5)682..813
Gene:SGCB
Gene Synonym:A3b; LGMD2E; SGC
Exon (6)814..4279
Gene:SGCB
Gene Synonym:A3b; LGMD2E; SGC
Translation MAAAAAAAAEQQSSNGPVKKSMREKAVERRSVNKEHNSNFKAGYIPIDEDRLHKTGLRGR KGNLAICVIILLFILAVINLIITLVIWAVIRIGPNGCDSMEFHESGLLRFKQVSDMGVIH PLYKSTVGGRRNENLVITGNNQPIVFQQGTTKLSVENNKTSITSDIGMQFFDPRTQNILF STDYETHEFHLPSGVKSLNVQKASTERITSNATSDLNIKVDGRAIVRGNEGVFIMGKTIE FHMGGNMELKAENSIILNGSVMVSTTRLPSSSSGDQLGSGDWVRYKLCMCADGTLFKVQV TSQNMGCQISDNPCGNTH
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Position Chain Variation Link
complement(143)-dbSNP:
complement(143)-g, adbSNP:11541944
complement(150)-t, gdbSNP:11541942
complement(152)-c, adbSNP:115928999
complement(197)-g, adbSNP:148525453
complement(207)-t, cdbSNP:113417835
complement(211)-g, adbSNP:144743676
complement(212)-t, cdbSNP:143751283
complement(286)-t, cdbSNP:140134296
complement(298)-c, adbSNP:146150527
complement(304)-dbSNP:
complement(304)-t, cdbSNP:143106297
complement(311)-g, adbSNP:138367908
complement(332)-t, g, cdbSNP:104893869
complement(359)-t, adbSNP:104893871
complement(383)-t, gdbSNP:104893870
complement(401)-g, adbSNP:150518260
complement(423)-t, adbSNP:150804702
complement(436)-g, adbSNP:11541943
complement(452)-t, cdbSNP:201439705
complement(491)-dbSNP:
complement(491)-c, adbSNP:147995730
complement(503)-t, cdbSNP:201006370
complement(512)-g, cdbSNP:28936383
complement(539)-g, adbSNP:146960385
complement(547)-t, cdbSNP:116157710
complement(555)-g, adbSNP:142801720
complement(556)-t, cdbSNP:138877636
complement(612)-t, gdbSNP:104893868
complement(618)-c, adbSNP:200167048
complement(666)-g, cdbSNP:201931208
complement(673)-t, adbSNP:202114068
complement(779)-dbSNP:
complement(779)-t, adbSNP:200018958
complement(812)-g, adbSNP:146111013
complement(828)-dbSNP:
complement(828)-g, adbSNP:149121189
complement(845)-g, adbSNP:201923065
complement(854)-g, adbSNP:116214830
complement(858)-t, gdbSNP:182784793
complement(859)-g, adbSNP:200761715
complement(860)-t, cdbSNP:114778658
complement(964)-t, cdbSNP:113313283
complement(990)-t, cdbSNP:145108543
complement(1003)-t, cdbSNP:150395645
complement(1028)-g, cdbSNP:75548192
complement(1035)-g, cdbSNP:191486389
complement(1312)-t, cdbSNP:188088101
complement(1321)-t, cdbSNP:183259387
complement(1431)-t, gdbSNP:190941869
complement(1538)-t, adbSNP:225165
complement(1562)-t, adbSNP:185150054
complement(1582)-t, cdbSNP:181924442
complement(1741)-g, adbSNP:79282232
complement(1774)-c, adbSNP:190910095
complement(1791)-g, adbSNP:186149099
complement(1930)-g, adbSNP:181701724
complement(2011)-t, gdbSNP:71595670
complement(2060)-t, cdbSNP:190163610
complement(2066)-t, cdbSNP:114153585
complement(2122)-t, cdbSNP:77404139
complement(2130)-t, cdbSNP:76630071
complement(2142)-t, adbSNP:146235069
complement(2261)-t, adbSNP:184970220
complement(2396)-g, adbSNP:142057805
complement(2447)-g, adbSNP:181308680
complement(2518)-g, cdbSNP:189219427
complement(2583)-t, cdbSNP:13989
complement(2641)-t, cdbSNP:225163
complement(2775)-g, cdbSNP:2613114
complement(2885)-t, gdbSNP:183468357
complement(2894)-, adbSNP:140630902
complement(2897)-g, adbSNP:192592642
complement(2930)-g, adbSNP:148314727
complement(2948)-g, adbSNP:187619233
complement(2980..2983)-, taaadbSNP:147275302
complement(3113)-g, adbSNP:184651316
complement(3114)-c, adbSNP:170424
complement(3183)-g, adbSNP:192993435
complement(3303)-t, adbSNP:116538326
complement(3333)-t, cdbSNP:188616784
complement(3364)-g, adbSNP:143238686
complement(3443..3444)-, cdbSNP:34667600
complement(3553)-g, adbSNP:113612476
complement(3598)-t, cdbSNP:111472806
complement(3770)-g, adbSNP:149137189
complement(3872)-t, adbSNP:112693657
complement(3890)-t, cdbSNP:183042117
complement(3924)-g, adbSNP:138349341
complement(4060)-t, cdbSNP:73246100
complement(4119)-t, adbSNP:191235935
complement(4155..4156)-, cdbSNP:34155563
complement(4210)-g, cdbSNP:186866895
complement(4275)-g, cdbSNP:182133472
complement(4277)-t, adbSNP:141778535
Gene SymbolSGCB
Gene SynonymA3b; LGMD2E; SGC
Chromosome4
Locus Map4q12
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000232 Homo sapiens sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) (SGCB), mRNA. Full Length $1503.25
ORF Sequence $277.53
Title Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? .
Author Klinge,L., Dekomien,G., Aboumousa,A., Charlton,R., Epplen,J.T., Barresi,R., Bushby,K. and Straub,V.
Journal Neuromuscul. Disord. 18 (12), 934-941 (2008)
Title Expression of the dystrophin-glycoprotein complex is a marker for human airway smooth muscle phenotype maturation .
Author Sharma,P., Tran,T., Stelmack,G.L., McNeill,K., Gosens,R., Mutawe,M.M., Unruh,H., Gerthoffer,W.T. and Halayko,A.J.
Journal Am. J. Physiol. Lung Cell Mol. Physiol. 294 (1), L57-L68 (2008)
Title The beta-delta-core of sarcoglycan is essential for deposition at the plasma membrane .
Author Draviam,R.A., Shand,S.H. and Watkins,S.C.
Journal Muscle Nerve 34 (6), 691-701 (2006)
Title Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E .
Author Fanin,M., Nascimbeni,A.C. and Angelini,C.
Journal Neuromuscul. Disord. 16 (11), 792-799 (2006)
Title Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures .
Author Kaindl,A.M., Jakubiczka,S., Lucke,T., Bartsch,O., Weis,J., Stoltenburg-Didinger,G., Aksu,F., Oexle,K., Koehler,K. and Huebner,A.
Journal Hum. Mutat. 26 (3), 279-280 (2005)
Title Mutations in the sarcoglycan genes in patients with myopathy .
Author Duggan,D.J., Gorospe,J.R., Fanin,M., Hoffman,E.P. and Angelini,C.
Journal N. Engl. J. Med. 336 (9), 618-624 (1997)
Title Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E) .
Author Bonnemann,C.G., Passos-Bueno,M.R., McNally,E.M., Vainzof,M., de Sa Moreira,E., Marie,S.K., Pavanello,R.C., Noguchi,S., Ozawa,E., Zatz,M. and Kunkel,L.M.
Journal Hum. Mol. Genet. 5 (12), 1953-1961 (1996)
Title Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex .
Author Bonnemann,C.G., Modi,R., Noguchi,S., Mizuno,Y., Yoshida,M., Gussoni,E., McNally,E.M., Duggan,D.J., Angelini,C. and Hoffman,E.P.
Journal Nat. Genet. 11 (3), 266-273 (1995)
Title Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12 .
Author Lim,L.E., Duclos,F., Broux,O., Bourg,N., Sunada,Y., Allamand,V., Meyer,J., Richard,I., Moomaw,C., Slaughter,C. et al.
Journal Nat. Genet. 11 (3), 257-265 (1995)
Title Glycoprotein complex anchoring dystrophin to sarcolemma .
Author Yoshida,M. and Ozawa,E.
Journal J. Biochem. 108 (5), 748-752 (1990)

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