NM_000231 1594 single mRNA linear PRI 21-NOV-2025 01-APR-1999 Homo sapiens sarcoglycan gamma (SGCG), transcript variant 1, mRNA NM_000231 NM_000231.3 ref|NM_000231.3| gi|1805215915 RefSeq MANE Select Homo sapiens (human) Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 1 1..1594 Zhu,Y. Burg,T. Neyrinck,K. Vervliet,T. Nami,F. Vervoort,E. Ahuja,K. Sassano,M.L. Chai,Y.C. Tharkeshwar,A.K. De Smedt,J. Hu,H. Bultynck,G. Agostinis,P. Swinnen,J.V. Van Den Bosch,L. da Costa,R.F.M. Verfaillie,C. Disruption of MAM integrity in mutant FUS oligodendroglial progenitors from hiPSCs Acta Neuropathol 147 (1), 6 (2024) doi 10.1007/s00401-023-02666-x 38170217 GeneRIF: Disruption of MAM integrity in mutant FUS oligodendroglial progenitors from hiPSCs.; Erratum:[Acta Neuropathol. 2024 Jun 13;147(1):99. doi: 10.1007/s00401-024-02748-4. PMID: 38871840]; Publication Status: Online-Only 2 1..1594 Pluta,N. Hoffjan,S. Zimmer,F. Kohler,C. Lucke,T. Mohr,J. Vorgerd,M. Nguyen,H.H.P. Atlan,D. Wolf,B. Zaum,A.K. Rost,S. Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy Genes (Basel) 13 (10), 1752 (2022) doi 10.3390/genes13101752 36292638 GeneRIF: Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.; Publication Status: Online-Only 3 1..1594 Nikpay,M. Lau,P. Soubeyrand,S. Whytock,K.L. Beehler,K. Pileggi,C. Ghosh,S. Harper,M.E. Dent,R. McPherson,R. SGCG rs679482 Associates With Weight Loss Success in Response to an Intensively Supervised Outpatient Program Diabetes 69 (9), 2017-2026 (2020) doi 10.2337/db20-0219 32527767 GeneRIF: SGCG rs679482 Associates With Weight Loss Success in Response to an Intensively Supervised Outpatient Program. 4 1..1594 Luck,K. Kim,D.K. Lambourne,L. Spirohn,K. Begg,B.E. Bian,W. Brignall,R. Cafarelli,T. Campos-Laborie,F.J. Charloteaux,B. Choi,D. Cote,A.G. Daley,M. Deimling,S. Desbuleux,A. Dricot,A. Gebbia,M. Hardy,M.F. Kishore,N. Knapp,J.J. Kovacs,I.A. Lemmens,I. Mee,M.W. Mellor,J.C. Pollis,C. Pons,C. Richardson,A.D. Schlabach,S. Teeking,B. Yadav,A. Babor,M. Balcha,D. Basha,O. Bowman-Colin,C. Chin,S.F. Choi,S.G. Colabella,C. Coppin,G. D'Amata,C. De Ridder,D. De Rouck,S. Duran-Frigola,M. Ennajdaoui,H. Goebels,F. Goehring,L. Gopal,A. Haddad,G. Hatchi,E. Helmy,M. Jacob,Y. Kassa,Y. Landini,S. Li,R. van Lieshout,N. MacWilliams,A. Markey,D. Paulson,J.N. Rangarajan,S. Rasla,J. Rayhan,A. Rolland,T. San-Miguel,A. Shen,Y. Sheykhkarimli,D. Sheynkman,G.M. Simonovsky,E. Tasan,M. Tejeda,A. Tropepe,V. Twizere,J.C. Wang,Y. Weatheritt,R.J. Weile,J. Xia,Y. Yang,X. Yeger-Lotem,E. Zhong,Q. Aloy,P. Bader,G.D. De Las Rivas,J. Gaudet,S. Hao,T. Rak,J. Tavernier,J. Hill,D.E. Vidal,M. Roth,F.P. Calderwood,M.A. A reference map of the human binary protein interactome Nature 580 (7803), 402-408 (2020) doi 10.1038/s41586-020-2188-x 32296183 5 1..1594 Jamaleddine,M. Harris,M.S. Liyanage,L. Cook,G.A. Expression, purification, and structural analysis of the full-length human integral membrane protein gamma-sarcoglycan Protein Expr Purif 167, 105525 (2020) doi 10.1016/j.pep.2019.105525 31682967 GeneRIF: Expression, purification, and structural analysis of the full-length human integral membrane protein gamma-sarcoglycan. 6 1..1594 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. Campbell,K.P. 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..1594 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. 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..1594 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..1594 Jorde,L.B. Watkins,W.S. 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..1594 Pegoraro,E. Hoffman,E.P. Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY (in) Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE 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, AL157766.9 and U34976.1.; On Feb 4, 2020 this sequence version replaced NM_000231.2.; ~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##; ##RefSeq-Attributes-START## ; MANE Ensembl match :: ENST00000218867.4/ ENSP00000218867.3 ; RefSeq Select criteria :: based on manual assertion, conservation, expression ; ##RefSeq-Attributes-END##; COMPLETENESS: full length. REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP~1-26 AL356287.16 145548-145573~27-593 DA897096.1 1-567~594-956 BC074778.2 539-901~957-957 AL157766.9 1733-1733~958-1001 BC074778.2 903-946~1002-1594 U34976.1 1029-1621 source 1..1594 1 1594 NM_000231.3 organism Homo sapiens mol_type mRNA db_xref taxon:9606 chromosome 13 map 13q12.12 gene 1..1594 1 1594 NM_000231.3 gene SGCG gene_synonym 35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2 note sarcoglycan gamma db_xref GeneID:6445 db_xref HGNC:HGNC:10809 db_xref MIM:608896 exon 1..97 1 97 NM_000231.3 gene SGCG gene_synonym 35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2 inference alignment:Splign:2.1.0 misc_feature 14..16 14 16 NM_000231.3 gene SGCG gene_synonym 35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2 note upstream in-frame stop codon CDS 98..973 98 973 NM_000231.3 gene SGCG gene_synonym 35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2 note isoform 1 is encoded by transcript variant 1; 35kD dystrophin-associated glycoprotein; gamma-sarcoglycan; 35 kDa dystrophin-associated glycoprotein; sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) codon_start 1 transl_table 1 product gamma-sarcoglycan isoform 1 protein_id NP_000222.2 db_xref CCDS:CCDS9299.1 db_xref GeneID:6445 db_xref HGNC:HGNC:10809 db_xref MIM:608896 translation MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKVMWFSPAGMGHLCVTKDGLRLEGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEGEVTGRLKVGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVVGTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALSQMDILFHSSDGMLVLDAETVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL misc_feature 209..271 209 271 NM_000231.3 gene SGCG gene_synonym 35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2 note propagated from UniProtKB/Swiss-Prot (Q13326.4); transmembrane region misc_feature 425..427 425 427 NM_000231.3 gene SGCG gene_synonym 35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2 note N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q13326.4); glycosylation site exon 98..292 98 292 NM_000231.3 gene SGCG gene_synonym 35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2 inference alignment:Splign:2.1.0 exon 293..394 293 394 NM_000231.3 gene SGCG gene_synonym 35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2 inference alignment:Splign:2.1.0 exon 395..482 395 482 NM_000231.3 gene SGCG gene_synonym 35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2 inference alignment:Splign:2.1.0 exon 483..602 483 602 NM_000231.3 gene SGCG gene_synonym 35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2 inference alignment:Splign:2.1.0 exon 603..675 603 675 NM_000231.3 gene SGCG gene_synonym 35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2 inference alignment:Splign:2.1.0 exon 676..799 676 799 NM_000231.3 gene SGCG gene_synonym 35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2 inference alignment:Splign:2.1.0 exon 800..1594 800 1594 NM_000231.3 gene SGCG gene_synonym 35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2 inference alignment:Splign:2.1.0 regulatory 1573..1578 1573 1578 NM_000231.3 regulatory_class polyA_signal_sequence gene SGCG gene_synonym 35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2 note hexamer: AATAAA polyA_site 1594 1594 NM_000231.3 gene SGCG gene_synonym 35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2 note major polyA site attctgtaagtcatagaaaagtttgaaacattctgtctgtggtagagctcgggccagctgtagttcattcgccagtgtgcttttcttaatatctaagatggtgcgtgagcagtacactacagccacagaaggcatctgcatagagaggccagagaatcagtatgtctacaaaattggcatttatggctggagaaagcgctgtctctacttgtttgttcttcttttactcatcatcctcgttgtgaatttagctcttacaatttggattcttaaagtgatgtggttttctccagcaggaatgggccacttgtgtgtaacaaaagatggactgcgcttggaaggggaatcagaatttttattcccattgtatgccaaagaaatacactccagagtggactcatctctgcttctacaatcaacccagaatgtgactgtaaatgcgcgcaactcagaaggggaggtcacaggcaggttaaaagtcggtcccaaaatggtagaagtccagaatcaacagtttcagatcaactccaacgacggcaagccactatttactgtagatgagaaggaagttgtggttggtacagataaacttcgagtaactgggcctgaaggggctctttttgaacattcagtggagacaccccttgtcagagccgacccgtttcaagaccttagattagaatcccccactcggagtctaagcatggatgccccaaggggtgtgcatattcaagctcacgctgggaaaattgaggcgctttctcaaatggatattctttttcatagtagtgatggaatgcttgtgcttgatgctgaaactgtgtgcttacccaagctggtgcaggggacgtggggtccctctggcagctcacagagcctctacgaaatctgtgtgtgtccagatgggaagctgtacctgtctgtggccggtgtgagcaccacgtgccaggagcacaaccacatctgcctctgagctgcctgcgtcctctcggtgagctgtgcagtgccggccccagatcctcacacccagggagcagctgcacatcgtgaaagactgaggcagcgtggatgggaagtaaacgcttccagaggaactcagaaaaaattatgtgccagtgaaagtgtttggacaaaaactacatgatctcaaaatgcacgtggatgtgagacacaaaagttgacaaaatggaaaagcaatgtgtttttccactggattaattttcaccggaacaattgcgaattctctctgcctcgcctccccctatcttgtccgtgtgggcacacactgagtgttgagttgccgtgtggagttaatgtatgacgctccactgtggatatctaatgccctgttgagagtagccttgctcagtactaaaatgccccaaagttctatacagcatttcctttatagcattcaaacctcacatcctcccttcagtttaatgcaagtaagtcaggtttcacaagaaaattttcaagttttgaagggaatttgaggttgatctggttttcaagatgtagttaaaggaataaatcactcaaaattaaactttctgtatatagtcaataagcaataaaaacctcatttttcaga