Dbfetch

LOCUS       NM_000231               1661 bp    mRNA    linear   PRI 19-DEC-2015
DEFINITION  Homo sapiens sarcoglycan gamma (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   El Kerch F, Ratbi I, Sbiti A, Laarabi FZ, Barkat A and Sefiani A.
  TITLE     Carrier frequency of the c.525delT mutation in the SGCG gene and
            estimated prevalence of limb girdle muscular dystrophy type 2C
            among the Moroccan population
  JOURNAL   Genet Test Mol Biomarkers 18 (4), 253-256 (2014)
   PUBMED   24552312
  REMARK    GeneRIF: Molecular epidemiologic methods were used to calculate the
            frequency of heterozygotes for this SGCG mutation in Moroccan
            newborns and to estimate the prevalence of LGMD2C in the Moroccan
            population.
REFERENCE   2  (bases 1 to 1661)
  AUTHORS   DiCapua D and Patwa H.
  TITLE     Puerto Rican founder mutation G787A in the SGCG gene: a case report
            of 2 siblings with LGMD 2C
  JOURNAL   J Clin Neuromuscul Dis 15 (3), 105-107 (2014)
   PUBMED   24534832
  REMARK    GeneRIF: A report of two siblings with severe childhood onset
            limb-girdle muscular dystrophy type 2C supports the theory that the
            mutation G787A in the SGCG gene is a founder mutation.
REFERENCE   3  (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   4  (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   5  (bases 1 to 1661)
  AUTHORS   Blandin G, Marchand S, Charton K, Daniele N, Gicquel E, Boucheteil
            JB, Bentaib A, Barrault L, Stockholm D, Bartoli M and Richard I.
  TITLE     A human skeletal muscle interactome centered on proteins involved
            in muscular dystrophies: LGMD interactome
  JOURNAL   Skelet Muscle 3 (1), 3 (2013)
   PUBMED   23414517
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1661)
  AUTHORS   Jung D, Leturcq F, Sunada Y, Duclos F, Tome FM, Moomaw C, Merlini
            L, Azibi K, Chaouch M, Slaughter C, Fardeau M, Kaplan JC and
            Campbell KP.
  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   7  (bases 1 to 1661)
  AUTHORS   Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida
            M, Yamamoto H, Bonnemann CG, Gussoni E, Denton PH, Kyriakides T,
            Middleton L, Hentati F, Ben Hamida M, Nonaka I, Vance JM, Kunkel LM
            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   8  (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   9  (bases 1 to 1661)
  AUTHORS   Jorde LB, Watkins WS, 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
REFERENCE   10 (bases 1 to 1661)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview
  JOURNAL   (in) Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean
            LJH, Bird TD, Fong CT, Mefford HC, Smith RJH and Stephens K (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301582
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
                                           SAMEA2142680, SAMEA2147596
                                           [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="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; MAM; SCARMD2; SCG3"
                     /note="sarcoglycan gamma"
                     /db_xref="GeneID:6445"
                     /db_xref="HGNC:HGNC:10809"
                     /db_xref="HPRD:07039"
                     /db_xref="MIM:608896"
     exon            1..155
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; MAM; SCARMD2; SCG3"
                     /inference="alignment:Splign:1.39.8"
     STS             41..1123
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; MAM; SCARMD2; SCG3"
                     /db_xref="UniSTS:489652"
     misc_feature    72..74
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; MAM; SCARMD2; SCG3"
                     /note="upstream in-frame stop codon"
     STS             113..1059
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; MAM; SCARMD2; SCG3"
                     /db_xref="UniSTS:481904"
     CDS             156..1031
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; MAM; SCARMD2; SCG3"
                     /note="35kD dystrophin-associated glycoprotein; 35 kDa
                     dystrophin-associated glycoprotein; sarcoglycan, gamma
                     (35kDa 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: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="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; MAM; SCARMD2; SCG3"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13326.4);
                     transmembrane region"
     exon            156..350
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; MAM; SCARMD2; SCG3"
                     /inference="alignment:Splign:1.39.8"
     exon            351..452
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; MAM; SCARMD2; SCG3"
                     /inference="alignment:Splign:1.39.8"
     exon            453..540
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; MAM; SCARMD2; SCG3"
                     /inference="alignment:Splign:1.39.8"
     exon            541..660
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; MAM; SCARMD2; SCG3"
                     /inference="alignment:Splign:1.39.8"
     exon            661..733
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; MAM; SCARMD2; SCG3"
                     /inference="alignment:Splign:1.39.8"
     exon            734..857
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; MAM; SCARMD2; SCG3"
                     /inference="alignment:Splign:1.39.8"
     exon            858..1655
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; MAM; SCARMD2; SCG3"
                     /inference="alignment:Splign:1.39.8"
     STS             1101..1314
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; MAM; SCARMD2; SCG3"
                     /standard_name="SGC35673"
                     /db_xref="UniSTS:27907"
     STS             1198..1421
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; MAM; SCARMD2; SCG3"
                     /standard_name="STS-U34976"
                     /db_xref="UniSTS:28147"
     regulatory      1631..1636
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; MAM; SCARMD2; SCG3"
     polyA_site      1655
                     /gene="SGCG"
                     /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG;
                     LGMD2C; MAM; SCARMD2; SCG3"
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
//