NM_000231 1661 single mRNA linear PRI 22-SEP-2019 01-APR-1999 Homo sapiens sarcoglycan gamma (SGCG), mRNA NM_000231 NM_000231.2 ref|NM_000231.2| gi|209529740 RefSeq RefSeq Select Homo sapiens (human) Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 1 1..1661 Dalichaouche I Sifi Y Roudaut C Sifi K Hamri A Rouabah L Abadi N Richard I gamma-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort Muscle Nerve 56 (1), 129-135 (2017) doi 10.1002/mus.25443 27759885 GeneRIF: This study showed that fifteen families were shown to carry SGCG variants in patient with early onset severe muscular dystrophy. 2 1..1661 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 Shen B 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 Biochemistry 55 (36), 5142-5154 (2016) doi 10.1021/acs.biochem.6b00713 27560143 GeneRIF: FADH2-dependent monooxygenase (SgcE6 and SgcC) that catalyzes the hydroxylation of a PCP-tethered substrate 3 1..1661 Spinazzola JM Smith TC Liu M Luna EJ Barton ER Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle Hum. Mol. Genet. 24 (9), 2470-2481 (2015) doi 10.1093/hmg/ddv008 25605665 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. 4 1..1661 El Kerch F Ratbi I Sbiti A Laarabi FZ Barkat A Sefiani A 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 Genet Test Mol Biomarkers 18 (4), 253-256 (2014) doi 10.1089/gtmb.2013.0326 24552312 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. 5 1..1661 DiCapua D Patwa H Puerto Rican founder mutation G787A in the SGCG gene: a case report of 2 siblings with LGMD 2C J Clin Neuromuscul Dis 15 (3), 105-107 (2014) doi 10.1097/CND.0000000000000018 24534832 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. 6 1..1661 Jung D Leturcq F Sunada Y Duclos F Tome FM Moomaw C Merlini L Azibi K Chaouch M Slaughter C Fardeau M Kaplan JC Campbell KP Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12 FEBS Lett. 381 (1-2), 15-20 (1996) doi 10.1016/0014-5793(96)00056-7 8641426 7 1..1661 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 Ozawa E Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy Science 270 (5237), 819-822 (1995) doi 10.1126/science.270.5237.819 7481775 8 1..1661 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. Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C) Am. J. Hum. Genet. 57 (3), 732-734 (1995) 7668303 9 1..1661 Jorde LB Watkins WS Viskochil D O'Connell P Ward K Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping Am. J. Hum. Genet. 53 (5), 1038-1050 (1993) 8105688 10 1..1661 Pegoraro,E. Hoffman,E.P. Limb-Girdle Muscular Dystrophy Overview (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K and Amemiya A (Eds.); GENEREVIEWS((R)); (1993) 20301582 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. 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 source 1..1661 1 1661 NM_000231.2 organism Homo sapiens mol_type mRNA db_xref taxon:9606 chromosome 13 map 13q12.12 gene 1..1661 1 1661 NM_000231.2 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 1 155 NM_000231.2 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 72 74 NM_000231.2 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 156 1031 NM_000231.2 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 transl_table 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 MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKVMWFSPAGMGHLCVTKDGLRLEGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEGEVTGRLKVGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVVGTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALSQMDILFHSSDGMLVLDAETVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHSHICL misc_feature 267..329 267 329 NM_000231.2 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..485 483 485 NM_000231.2 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..350 156 350 NM_000231.2 gene SGCG gene_synonym 35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2; SCG3 inference alignment:Splign:2.1.0 exon 351..452 351 452 NM_000231.2 gene SGCG gene_synonym 35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2; SCG3 inference alignment:Splign:2.1.0 exon 453..540 453 540 NM_000231.2 gene SGCG gene_synonym 35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2; SCG3 inference alignment:Splign:2.1.0 exon 541..660 541 660 NM_000231.2 gene SGCG gene_synonym 35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2; SCG3 inference alignment:Splign:2.1.0 exon 661..733 661 733 NM_000231.2 gene SGCG gene_synonym 35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2; SCG3 inference alignment:Splign:2.1.0 exon 734..857 734 857 NM_000231.2 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 858 1655 NM_000231.2 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 1631 1636 NM_000231.2 regulatory_class polyA_signal_sequence gene SGCG gene_synonym 35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2; SCG3 polyA_site 1655 1655 NM_000231.2 gene SGCG gene_synonym 35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2; SCG3 gaaactcgtgagagccctttctccagggacagttgctgaagcttcatcctttgctctcattctgtaagtcatagaaaagtttgaaacattctgtctgtggtagagctcgggccagctgtagttcattcgccagtgtgcttttcttaatatctaagatggtgcgtgagcagtacactacagccacagaaggcatctgcatagagaggccagagaatcagtatgtctacaaaattggcatttatggctggagaaagcgctgtctctacttgtttgttcttcttttactcatcatcctcgttgtgaatttagctcttacaatttggattcttaaagtgatgtggttttctccagcaggaatgggccacttgtgtgtaacaaaagatggactgcgcttggaaggggaatcagaatttttattcccattgtatgccaaagaaatacactccagagtggactcatctctgcttctacaatcaacccagaatgtgactgtaaatgcgcgcaactcagaaggggaggtcacaggcaggttaaaagtcggtcccaaaatggtagaagtccagaatcaacagtttcagatcaactccaacgacggcaagccactatttactgtagatgagaaggaagttgtggttggtacagataaacttcgagtaactgggcctgaaggggctctttttgaacattcagtggagacaccccttgtcagagccgacccgtttcaagaccttagattagaatcccccactcggagtctaagcatggatgccccaaggggtgtgcatattcaagctcacgctgggaaaattgaggcgctttctcaaatggatattctttttcatagtagtgatggaatgcttgtgcttgatgctgaaactgtgtgcttacccaagctggtgcaggggacgtggggtccctctggcagctcacagagcctctacgaaatctgtgtgtgtccagatgggaagctgtacctgtctgtggccggtgtgagcaccacgtgccaggagcacagccacatctgcctctgagctgcctgcgtcctctcggtgagctgtgcagtgccggccccagatcctcacacccagggagcagctgcacatcgtgaaagactgaggcagcgtggatgggaagtaaacgcttccagaggaactcagaaaaaattatgtgccagtgaaagtgtttggacaaaaactacatgatctcaaaatgcacgtggatgtgagacacaaaagttgacaaaatggaaaagcaatgtgtttttccactggattaattttcaccggaacaattgcgaattctctctgcctcgcctccccctatcttgtccgtgtgggcacacactgagtgttgagttgccgtgtggagttaatgtatgacgctccactgtggatatctaatgccctgttgagagtagccttgctcagtactaaaatgccccaaagttctatacagcatttcctttatagcattcaaacctcacatcctcccttcagtttaatgcaagtaagtcaggtttcacaagaaaattttcaagttttgaagggaatttgaggttgatctggttttcaagatgtagttaaaggaataaatcactcaaaattaaactttctgtatatagtcaataagcaataaaaacctcatttttcagagttaaaaaa