Dbfetch
LOCUS NM_000231 1594 bp mRNA linear PRI 21-NOV-2025 DEFINITION Homo sapiens sarcoglycan gamma (SGCG), transcript variant 1, mRNA. ACCESSION NM_000231 VERSION NM_000231.3 KEYWORDS RefSeq; MANE 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 1594) AUTHORS 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. and Verfaillie,C. TITLE Disruption of MAM integrity in mutant FUS oligodendroglial progenitors from hiPSCs JOURNAL Acta Neuropathol 147 (1), 6 (2024) PUBMED 38170217 REMARK 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 REFERENCE 2 (bases 1 to 1594) AUTHORS 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. and Rost,S. TITLE Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy JOURNAL Genes (Basel) 13 (10), 1752 (2022) PUBMED 36292638 REMARK 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 REFERENCE 3 (bases 1 to 1594) AUTHORS Nikpay,M., Lau,P., Soubeyrand,S., Whytock,K.L., Beehler,K., Pileggi,C., Ghosh,S., Harper,M.E., Dent,R. and McPherson,R. TITLE SGCG rs679482 Associates With Weight Loss Success in Response to an Intensively Supervised Outpatient Program JOURNAL Diabetes 69 (9), 2017-2026 (2020) PUBMED 32527767 REMARK GeneRIF: SGCG rs679482 Associates With Weight Loss Success in Response to an Intensively Supervised Outpatient Program. REFERENCE 4 (bases 1 to 1594) AUTHORS 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. and Calderwood,M.A. TITLE A reference map of the human binary protein interactome JOURNAL Nature 580 (7803), 402-408 (2020) PUBMED 32296183 REFERENCE 5 (bases 1 to 1594) AUTHORS Jamaleddine,M., Harris,M.S., Liyanage,L. and Cook,G.A. TITLE Expression, purification, and structural analysis of the full-length human integral membrane protein gamma-sarcoglycan JOURNAL Protein Expr Purif 167, 105525 (2020) PUBMED 31682967 REMARK GeneRIF: Expression, purification, and structural analysis of the full-length human integral membrane protein gamma-sarcoglycan. REFERENCE 6 (bases 1 to 1594) 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 7 (bases 1 to 1594) 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 8 (bases 1 to 1594) 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 1594) 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 REFERENCE 10 (bases 1 to 1594) AUTHORS Pegoraro,E. and Hoffman,E.P. TITLE Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY JOURNAL (in) Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE 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, 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. PRIMARY 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 FEATURES Location/Qualifiers source 1..1594 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="13" /map="13q12.12" gene 1..1594 /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 /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 /gene="SGCG" /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2" /note="upstream in-frame stop codon" CDS 98..973 /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 /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="MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLL IILVVNLALTIWILKVMWFSPAGMGHLCVTKDGLRLEGESEFLFPLYAKEIHSRVDSS LLLQSTQNVTVNARNSEGEVTGRLKVGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVV GTDKLRVTGPEGALFEHSVETPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKI EALSQMDILFHSSDGMLVLDAETVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSV AGVSTTCQEHNHICL" misc_feature 209..271 /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 /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 /gene="SGCG" /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2" /inference="alignment:Splign:2.1.0" exon 293..394 /gene="SGCG" /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2" /inference="alignment:Splign:2.1.0" exon 395..482 /gene="SGCG" /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2" /inference="alignment:Splign:2.1.0" exon 483..602 /gene="SGCG" /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2" /inference="alignment:Splign:2.1.0" exon 603..675 /gene="SGCG" /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2" /inference="alignment:Splign:2.1.0" exon 676..799 /gene="SGCG" /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2" /inference="alignment:Splign:2.1.0" exon 800..1594 /gene="SGCG" /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2" /inference="alignment:Splign:2.1.0" regulatory 1573..1578 /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 /gene="SGCG" /gene_synonym="35DAG; A4; DAGA4; DMDA; DMDA1; gamma-SG; LGMD2C; LGMDR5; MAM; SCARMD2" /note="major polyA site" ORIGIN 1 attctgtaag tcatagaaaa gtttgaaaca ttctgtctgt ggtagagctc gggccagctg 61 tagttcattc gccagtgtgc ttttcttaat atctaagatg gtgcgtgagc agtacactac 121 agccacagaa ggcatctgca tagagaggcc agagaatcag tatgtctaca aaattggcat 181 ttatggctgg agaaagcgct gtctctactt gtttgttctt cttttactca tcatcctcgt 241 tgtgaattta gctcttacaa tttggattct taaagtgatg tggttttctc cagcaggaat 301 gggccacttg tgtgtaacaa aagatggact gcgcttggaa ggggaatcag aatttttatt 361 cccattgtat gccaaagaaa tacactccag agtggactca tctctgcttc tacaatcaac 421 ccagaatgtg actgtaaatg cgcgcaactc agaaggggag gtcacaggca ggttaaaagt 481 cggtcccaaa atggtagaag tccagaatca acagtttcag atcaactcca acgacggcaa 541 gccactattt actgtagatg agaaggaagt tgtggttggt acagataaac ttcgagtaac 601 tgggcctgaa ggggctcttt ttgaacattc agtggagaca ccccttgtca gagccgaccc 661 gtttcaagac cttagattag aatcccccac tcggagtcta agcatggatg ccccaagggg 721 tgtgcatatt caagctcacg ctgggaaaat tgaggcgctt tctcaaatgg atattctttt 781 tcatagtagt gatggaatgc ttgtgcttga tgctgaaact gtgtgcttac ccaagctggt 841 gcaggggacg tggggtccct ctggcagctc acagagcctc tacgaaatct gtgtgtgtcc 901 agatgggaag ctgtacctgt ctgtggccgg tgtgagcacc acgtgccagg agcacaacca 961 catctgcctc tgagctgcct gcgtcctctc ggtgagctgt gcagtgccgg ccccagatcc 1021 tcacacccag ggagcagctg cacatcgtga aagactgagg cagcgtggat gggaagtaaa 1081 cgcttccaga ggaactcaga aaaaattatg tgccagtgaa agtgtttgga caaaaactac 1141 atgatctcaa aatgcacgtg gatgtgagac acaaaagttg acaaaatgga aaagcaatgt 1201 gtttttccac tggattaatt ttcaccggaa caattgcgaa ttctctctgc ctcgcctccc 1261 cctatcttgt ccgtgtgggc acacactgag tgttgagttg ccgtgtggag ttaatgtatg 1321 acgctccact gtggatatct aatgccctgt tgagagtagc cttgctcagt actaaaatgc 1381 cccaaagttc tatacagcat ttcctttata gcattcaaac ctcacatcct cccttcagtt 1441 taatgcaagt aagtcaggtt tcacaagaaa attttcaagt tttgaaggga atttgaggtt 1501 gatctggttt tcaagatgta gttaaaggaa taaatcactc aaaattaaac tttctgtata 1561 tagtcaataa gcaataaaaa cctcattttt caga //