LOCUS NM_000231 1661 bp mRNA linear PRI 22-SEP-2019 DEFINITION Homo sapiens sarcoglycan gamma (SGCG), mRNA. ACCESSION NM_000231 VERSION NM_000231.2 KEYWORDS RefSeq; RefSeq Select. 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 Dalichaouche I, Sifi Y, Roudaut C, Sifi K, Hamri A, Rouabah L, Abadi N and Richard I. TITLE gamma-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort JOURNAL Muscle Nerve 56 (1), 129-135 (2017) PUBMED 27759885 REMARK GeneRIF: This study showed that fifteen families were shown to carry SGCG variants in patient with early onset severe muscular dystrophy. REFERENCE 2 (bases 1 to 1661) AUTHORS Chang CY, Lohman JR, Cao H, Tan K, Rudolf JD, Ma M, Xu W, Bingman CA, Yennamalli RM, Bigelow L, Babnigg G, Yan X, Joachimiak A, Phillips GN Jr and Shen B. TITLE Crystal Structures of SgcE6 and SgcC, the Two-Component Monooxygenase That Catalyzes Hydroxylation of a Carrier Protein-Tethered Substrate during the Biosynthesis of the Enediyne Antitumor Antibiotic C-1027 in Streptomyces globisporus JOURNAL Biochemistry 55 (36), 5142-5154 (2016) PUBMED 27560143 REMARK GeneRIF: FADH2-dependent monooxygenase (SgcE6 and SgcC) that catalyzes the hydroxylation of a PCP-tethered substrate REFERENCE 3 (bases 1 to 1661) AUTHORS Spinazzola JM, Smith TC, Liu M, Luna EJ and Barton ER. TITLE Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle JOURNAL Hum. Mol. Genet. 24 (9), 2470-2481 (2015) PUBMED 25605665 REMARK GeneRIF: These results position archvillin as a mechanically sensitive component of the dystrophin complex and demonstrate that signaling defects caused by loss of gamma-SG occur both at the sarcolemma and in the nucleus. REFERENCE 4 (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 5 (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 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) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K and Amemiya A (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. [WARNING] On Feb 4, 2020 this sequence was replaced by NM_000231.3. On Oct 16, 2008 this sequence version replaced NM_000231.1. 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, ERR279837.528.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142680, SAMEA2147596 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-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="13q12.12" gene 1..1661 /gene="SGCG" /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2; SCG3" /note="sarcoglycan gamma" /db_xref="GeneID:6445" /db_xref="HGNC:HGNC:10809" /db_xref="MIM:608896" exon 1..155 /gene="SGCG" /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2; SCG3" /inference="alignment:Splign:2.1.0" misc_feature 72..74 /gene="SGCG" /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2; SCG3" /note="upstream in-frame stop codon" CDS 156..1031 /gene="SGCG" /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; 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="CCDS:CCDS9299.1" /db_xref="GeneID:6445" /db_xref="HGNC:HGNC:10809" /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; LGMDR5; MAM; SCARMD2; SCG3" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q13326.4); transmembrane region" misc_feature 483..485 /gene="SGCG" /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2; SCG3" /experiment="experimental evidence, no additional details recorded" /note="N-linked (GlcNAc...) asparagine. {ECO:0000255}; propagated from UniProtKB/Swiss-Prot (Q13326.4); glycosylation site" exon 156..350 /gene="SGCG" /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2; SCG3" /inference="alignment:Splign:2.1.0" exon 351..452 /gene="SGCG" /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2; SCG3" /inference="alignment:Splign:2.1.0" exon 453..540 /gene="SGCG" /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2; SCG3" /inference="alignment:Splign:2.1.0" exon 541..660 /gene="SGCG" /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2; SCG3" /inference="alignment:Splign:2.1.0" exon 661..733 /gene="SGCG" /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2; SCG3" /inference="alignment:Splign:2.1.0" exon 734..857 /gene="SGCG" /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2; SCG3" /inference="alignment:Splign:2.1.0" exon 858..1655 /gene="SGCG" /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2; SCG3" /inference="alignment:Splign:2.1.0" regulatory 1631..1636 /regulatory_class="polyA_signal_sequence" /gene="SGCG" /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2; SCG3" polyA_site 1655 /gene="SGCG" /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2; SCG3" ORIGIN