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EBI DbfetchLOCUS NM_000231 1661 bp mRNA linear PRI 19-AUG-2013 DEFINITION Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA. ACCESSION NM_000231 VERSION NM_000231.2 GI:209529740 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 1661) AUTHORS Saxena R, Saleheen D, Been LF, Garavito ML, Braun T, Bjonnes A, Young R, Ho WK, Rasheed A, Frossard P, Sim X, Hassanali N, Radha V, Chidambaram M, Liju S, Rees SD, Ng DP, Wong TY, Yamauchi T, Hara K, Tanaka Y, Hirose H, McCarthy MI, Morris AP, Basit A, Barnett AH, Katulanda P, Matthews D, Mohan V, Wander GS, Singh JR, Mehra NK, Ralhan S, Kamboh MI, Mulvihill JJ, Maegawa H, Tobe K, Maeda S, Cho YS, Tai ES, Kelly MA, Chambers JC, Kooner JS, Kadowaki T, Deloukas P, Rader DJ, Danesh J and Sanghera DK. CONSRTM DIAGRAM; MuTHER; AGEN TITLE Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India JOURNAL Diabetes 62 (5), 1746-1755 (2013) PUBMED 23300278 REMARK GeneRIF: Data suggest that an SNP in an intron of SGCG (rs9552911) is associated with type 2 diabetes [Genome-Wide Association Study in Sikh populations in India & Meta-Analysis] REFERENCE 2 (bases 1 to 1661) AUTHORS Lu Y, Vitart V, Burdon KP, Khor CC, Bykhovskaya Y, Mirshahi A, Hewitt AW, Koehn D, Hysi PG, Ramdas WD, Zeller T, Vithana EN, Cornes BK, Tay WT, Tai ES, Cheng CY, Liu J, Foo JN, Saw SM, Thorleifsson G, Stefansson K, Dimasi DP, Mills RA, Mountain J, Ang W, Hoehn R, Verhoeven VJ, Grus F, Wolfs R, Castagne R, Lackner KJ, Springelkamp H, Yang J, Jonasson F, Leung DY, Chen LJ, Tham CC, Rudan I, Vatavuk Z, Hayward C, Gibson J, Cree AJ, MacLeod A, Ennis S, Polasek O, Campbell H, Wilson JF, Viswanathan AC, Fleck B, Li X, Siscovick D, Taylor KD, Rotter JI, Yazar S, Ulmer M, Li J, Yaspan BL, Ozel AB, Richards JE, Moroi SE, Haines JL, Kang JH, Pasquale LR, Allingham RR, Ashley-Koch A, Mitchell P, Wang JJ, Wright AF, Pennell C, Spector TD, Young TL, Klaver CC, Martin NG, Montgomery GW, Anderson MG, Aung T, Willoughby CE, Wiggs JL, Pang CP, Thorsteinsdottir U, Lotery AJ, Hammond CJ, van Duijn CM, Hauser MA, Rabinowitz YS, Pfeiffer N, Mackey DA, Craig JE, Macgregor S and Wong TY. CONSRTM NEIGHBOR Consortium TITLE Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus JOURNAL Nat. Genet. 45 (2), 155-163 (2013) PUBMED 23291589 REFERENCE 3 (bases 1 to 1661) AUTHORS 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. TITLE A delta-sarcoglycan gene polymorphism as a risk factor for hypertrophic cardiomyopathy JOURNAL Genet Test Mol Biomarkers 16 (8), 855-858 (2012) PUBMED 22524166 REMARK GeneRIF: The C allele of the c.-94C>G polymorphism in delta-sarcoglycan is a risk factor for HCM, which is increased by the Amerindian component and can play an important role in the etiology and progression of disease in Mexican patients REFERENCE 4 (bases 1 to 1661) AUTHORS 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. TITLE Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster JOURNAL Addict Biol 17 (1), 171-180 (2012) PUBMED 22004471 REFERENCE 5 (bases 1 to 1661) AUTHORS 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. TITLE Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes JOURNAL PLoS Genet. 7 (6), E1002134 (2011) PUBMED 21738484 REFERENCE 6 (bases 1 to 1661) AUTHORS 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. TITLE Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation JOURNAL Am. J. Hum. Genet. 59 (5), 1040-1047 (1996) PUBMED 8900232 REFERENCE 7 (bases 1 to 1661) AUTHORS 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. TITLE Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12 JOURNAL FEBS Lett. 381 (1-2), 15-20 (1996) PUBMED 8641426 REFERENCE 8 (bases 1 to 1661) AUTHORS 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. TITLE Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy JOURNAL Science 270 (5237), 819-822 (1995) PUBMED 7481775 REFERENCE 9 (bases 1 to 1661) AUTHORS 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. TITLE Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C) JOURNAL Am. J. Hum. Genet. 57 (3), 732-734 (1995) PUBMED 7668303 REFERENCE 10 (bases 1 to 1661) AUTHORS Jorde,L.B., Watkins,W.S., Viskochil,D., O'Connell,P. and Ward,K. TITLE Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping JOURNAL Am. J. Hum. Genet. 53 (5), 1038-1050 (1993) PUBMED 8105688 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL356287.16, DA897096.1, BC074778.2 and U34976.1. This sequence is a reference standard in the RefSeqGene project. On Oct 16, 2008 this sequence version replaced gi:4557846. 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U34976.1, BC109321.2 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025083, ERS025084 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: full length. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-84 AL356287.16 145490-145573 85-651 DA897096.1 1-567 652-1059 BC074778.2 539-946 1060-1661 U34976.1 1029-1630 FEATURES Location/Qualifiers source 1..1661 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="13" /map="13q12" gene 1..1661 /gene="SGCG" /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE" /note="sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)" /db_xref="GeneID:6445" /db_xref="HGNC:10809" /db_xref="HPRD:07039" /db_xref="MIM:608896" exon 1..155 /gene="SGCG" /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE" /inference="alignment:Splign:1.39.8" STS 41..1123 /gene="SGCG" /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE" /db_xref="UniSTS:489652" misc_feature 72..74 /gene="SGCG" /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE" /note="upstream in-frame stop codon" STS 113..1059 /gene="SGCG" /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE" /db_xref="UniSTS:481904" CDS 156..1031 /gene="SGCG" /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE" /note="35kD dystrophin-associated glycoprotein; gamma sarcoglycan; 35DAG; gamma-SG; 35 kDa dystrophin-associated glycoprotein" /codon_start=1 /product="gamma-sarcoglycan" /protein_id="NP_000222.1" /db_xref="GI:4557847" /db_xref="CCDS:CCDS9299.1" /db_xref="GeneID:6445" /db_xref="HGNC:10809" /db_xref="HPRD:07039" /db_xref="MIM:608896" /translation="MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLL IILVVNLALTIWILKVMWFSPAGMGHLCVTKDGLRLEGESEFLFPLYAKEIHSRVDSS LLLQSTQNVTVNARNSEGEVTGRLKVGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVV GTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKI EALSQMDILFHSSDGMLVLDAETVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSV AGVSTTCQEHSHICL" misc_feature 267..329 /gene="SGCG" /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q13326.4); transmembrane region" exon 156..350 /gene="SGCG" /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE" /inference="alignment:Splign:1.39.8" exon 351..452 /gene="SGCG" /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE" /inference="alignment:Splign:1.39.8" exon 453..540 /gene="SGCG" /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE" /inference="alignment:Splign:1.39.8" exon 541..660 /gene="SGCG" /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE" /inference="alignment:Splign:1.39.8" exon 661..733 /gene="SGCG" /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE" /inference="alignment:Splign:1.39.8" exon 734..857 /gene="SGCG" /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE" /inference="alignment:Splign:1.39.8" exon 858..1655 /gene="SGCG" /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE" /inference="alignment:Splign:1.39.8" STS 1101..1314 /gene="SGCG" /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE" /standard_name="SGC35673" /db_xref="UniSTS:27907" STS 1198..1421 /gene="SGCG" /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE" /standard_name="STS-U34976" /db_xref="UniSTS:28147" polyA_signal 1631..1636 /gene="SGCG" /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE" polyA_site 1655 /gene="SGCG" /gene_synonym="A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE" ORIGIN 1 gaaactcgtg agagcccttt ctccagggac agttgctgaa gcttcatcct ttgctctcat 61 tctgtaagtc atagaaaagt ttgaaacatt ctgtctgtgg tagagctcgg gccagctgta 121 gttcattcgc cagtgtgctt ttcttaatat ctaagatggt gcgtgagcag tacactacag 181 ccacagaagg catctgcata gagaggccag agaatcagta tgtctacaaa attggcattt 241 atggctggag aaagcgctgt ctctacttgt ttgttcttct tttactcatc atcctcgttg 301 tgaatttagc tcttacaatt tggattctta aagtgatgtg gttttctcca gcaggaatgg 361 gccacttgtg tgtaacaaaa gatggactgc gcttggaagg ggaatcagaa tttttattcc 421 cattgtatgc caaagaaata cactccagag tggactcatc tctgcttcta caatcaaccc 481 agaatgtgac tgtaaatgcg cgcaactcag aaggggaggt cacaggcagg ttaaaagtcg 541 gtcccaaaat ggtagaagtc cagaatcaac agtttcagat caactccaac gacggcaagc 601 cactatttac tgtagatgag aaggaagttg tggttggtac agataaactt cgagtaactg 661 ggcctgaagg ggctcttttt gaacattcag tggagacacc ccttgtcaga gccgacccgt 721 ttcaagacct tagattagaa tcccccactc ggagtctaag catggatgcc ccaaggggtg 781 tgcatattca agctcacgct gggaaaattg aggcgctttc tcaaatggat attctttttc 841 atagtagtga tggaatgctt gtgcttgatg ctgaaactgt gtgcttaccc aagctggtgc 901 aggggacgtg gggtccctct ggcagctcac agagcctcta cgaaatctgt gtgtgtccag 961 atgggaagct gtacctgtct gtggccggtg tgagcaccac gtgccaggag cacagccaca 1021 tctgcctctg agctgcctgc gtcctctcgg tgagctgtgc agtgccggcc ccagatcctc 1081 acacccaggg agcagctgca catcgtgaaa gactgaggca gcgtggatgg gaagtaaacg 1141 cttccagagg aactcagaaa aaattatgtg ccagtgaaag tgtttggaca aaaactacat 1201 gatctcaaaa tgcacgtgga tgtgagacac aaaagttgac aaaatggaaa agcaatgtgt 1261 ttttccactg gattaatttt caccggaaca attgcgaatt ctctctgcct cgcctccccc 1321 tatcttgtcc gtgtgggcac acactgagtg ttgagttgcc gtgtggagtt aatgtatgac 1381 gctccactgt ggatatctaa tgccctgttg agagtagcct tgctcagtac taaaatgccc 1441 caaagttcta tacagcattt cctttatagc attcaaacct cacatcctcc cttcagttta 1501 atgcaagtaa gtcaggtttc acaagaaaat tttcaagttt tgaagggaat ttgaggttga 1561 tctggttttc aagatgtagt taaaggaata aatcactcaa aattaaactt tctgtatata 1621 gtcaataagc aataaaaacc tcatttttca gagttaaaaa a // |
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