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