LOCUS       NM_000232               4248 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens sarcoglycan beta (SGCB), mRNA.
ACCESSION   NM_000232
VERSION     NM_000232.5
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 4248)
  AUTHORS   Sanga,S., Chakraborty,S., Bardhan,M., Polavarapu,K., Kumar,V.P.,
            Bhattacharya,C., Nashi,S., Vengalil,S., Geetha,T.S., Ramprasad,V.,
            Nalini,A., Basu,A. and Acharya,M.
  TITLE     Identification of a shared, common haplotype segregating with an
            SGCB c.544 T > G mutation in Indian patients affected with
            sarcoglycanopathy
  JOURNAL   Sci Rep 13 (1), 15095 (2023)
   PUBMED   37699968
  REMARK    GeneRIF: Identification of a shared, common haplotype segregating
            with an SGCB c.544 T > G mutation in Indian patients affected with
            sarcoglycanopathy.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4248)
  AUTHORS   Li,C., Wilborn,J., Pittman,S., Daw,J., Alonso-Perez,J.,
            Diaz-Manera,J., Weihl,C.C. and Haller,G.
  TITLE     Comprehensive functional characterization of SGCB coding variants
            predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E
  JOURNAL   J Clin Invest 133 (12), e168156 (2023)
   PUBMED   37317968
  REMARK    GeneRIF: Comprehensive functional characterization of SGCB coding
            variants predicts pathogenicity in limb-girdle muscular dystrophy
            type R4/2E.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4248)
  AUTHORS   Bardhan,M., Anjanappa,R.M., Polavarapu,K., Preethish-Kumar,V.,
            Vengalil,S., Nashi,S., Sanga,S., Padmanabh,H., Valasani,R.K.,
            Nishadham,V., Keerthipriya,M., Geetha,T.S., Ramprasad,V.,
            Arunachal,G., Thomas,P.T., Acharya,M. and Nalini,A.
  TITLE     Clinical, genetic profile and disease progression of
            sarcoglycanopathies in a large cohort from India: high prevalence
            of SGCB c.544A > C
  JOURNAL   Neurogenetics 23 (3), 187-202 (2022)
   PUBMED   35416532
  REMARK    GeneRIF: Clinical, genetic profile and disease progression of
            sarcoglycanopathies in a large cohort from India: high prevalence
            of SGCB c.544A > C.
REFERENCE   4  (bases 1 to 4248)
  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 4248)
  AUTHORS   Alavi,A., Esmaeili,S., Nilipour,Y., Nafissi,S., Tonekaboni,S.H.,
            Zamani,G., Ashrafi,M.R., Kahrizi,K., Najmabadi,H. and Jazayeri,F.
  TITLE     LGMD2E is the most common type of sarcoglycanopathies in the
            Iranian population
  JOURNAL   J Neurogenet 31 (3), 161-169 (2017)
   PUBMED   28687063
  REMARK    GeneRIF: This study demonstrated that LGMD2E is the most common
            type of sarcoglycanopathies in the Iranian population.
REFERENCE   6  (bases 1 to 4248)
  AUTHORS   Bonnemann,C.G., Passos-Bueno,M.R., McNally,E.M., Vainzof,M., de Sa
            Moreira,E., Marie,S.K., Pavanello,R.C., Noguchi,S., Ozawa,E.,
            Zatz,M. and Kunkel,L.M.
  TITLE     Genomic screening for beta-sarcoglycan gene mutations: missense
            mutations may cause severe limb-girdle muscular dystrophy type 2E
            (LGMD 2E)
  JOURNAL   Hum Mol Genet 5 (12), 1953-1961 (1996)
   PUBMED   8968749
REFERENCE   7  (bases 1 to 4248)
  AUTHORS   Bonnemann,C.G., Modi,R., Noguchi,S., Mizuno,Y., Yoshida,M.,
            Gussoni,E., McNally,E.M., Duggan,D.J., Angelini,C. and Hoffman,E.P.
  TITLE     Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular
            dystrophy with loss of the sarcoglycan complex
  JOURNAL   Nat Genet 11 (3), 266-273 (1995)
   PUBMED   7581449
  REMARK    Erratum:[Nat Genet 1996 Jan;12(1):110]
REFERENCE   8  (bases 1 to 4248)
  AUTHORS   Lim,L.E., Duclos,F., Broux,O., Bourg,N., Sunada,Y., Allamand,V.,
            Meyer,J., Richard,I., Moomaw,C., Slaughter,C. et al.
  TITLE     Beta-sarcoglycan: characterization and role in limb-girdle muscular
            dystrophy linked to 4q12
  JOURNAL   Nat Genet 11 (3), 257-265 (1995)
   PUBMED   7581448
REFERENCE   9  (bases 1 to 4248)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301582
REFERENCE   10 (bases 1 to 4248)
  AUTHORS   Yoshida,M. and Ozawa,E.
  TITLE     Glycoprotein complex anchoring dystrophin to sarcolemma
  JOURNAL   J Biochem 108 (5), 748-752 (1990)
   PUBMED   2081733
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN483961.1, BC020709.1,
            AC093858.2 and AK094731.1.
            
            On Dec 4, 2019 this sequence version replaced NM_000232.4.
            
            Summary: This gene encodes a member of the sarcoglycan family.
            Sarcoglycans are transmembrane components in the
            dystrophin-glycoprotein complex which help stabilize the muscle
            fiber membranes and link the muscle cytoskeleton to the
            extracellular matrix. Mutations in this gene have been associated
            with limb-girdle muscular dystrophy.[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 :: SRR11853566.21133.1,
                                           SRR11853561.22169.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381431.10/ ENSP00000370839.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                CN483961.1         21-39
            20-1254             BC020709.1         1-1235
            1255-2895           AC093858.2         12061-13701         c
            2896-4248           AK094731.1         1090-2442
FEATURES             Location/Qualifiers
     source          1..4248
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q12"
     gene            1..4248
                     /gene="SGCB"
                     /gene_synonym="A3b; LGMD2E; LGMDR4; SGC"
                     /note="sarcoglycan beta"
                     /db_xref="GeneID:6443"
                     /db_xref="HGNC:HGNC:10806"
                     /db_xref="MIM:600900"
     exon            1..73
                     /gene="SGCB"
                     /gene_synonym="A3b; LGMD2E; LGMDR4; SGC"
                     /inference="alignment:Splign:2.1.0"
     CDS             41..997
                     /gene="SGCB"
                     /gene_synonym="A3b; LGMD2E; LGMDR4; SGC"
                     /note="beta-sarcoglycan(43kD dystrophin-associated
                     glycoprotein); limb girdle muscular dystrophy 2E
                     (non-linked families); 43DAG; beta-SG; 43 kDa
                     dystrophin-associated glycoprotein; sarcoglycan, beta
                     (43kDa dystrophin-associated glycoprotein)"
                     /codon_start=1
                     /product="beta-sarcoglycan"
                     /protein_id="NP_000223.1"
                     /db_xref="CCDS:CCDS3488.1"
                     /db_xref="GeneID:6443"
                     /db_xref="HGNC:HGNC:10806"
                     /db_xref="MIM:600900"
                     /translation="MAAAAAAAAEQQSSNGPVKKSMREKAVERRSVNKEHNSNFKAGY
                     IPIDEDRLHKTGLRGRKGNLAICVIILLFILAVINLIITLVIWAVIRIGPNGCDSMEF
                     HESGLLRFKQVSDMGVIHPLYKSTVGGRRNENLVITGNNQPIVFQQGTTKLSVENNKT
                     SITSDIGMQFFDPRTQNILFSTDYETHEFHLPSGVKSLNVQKASTERITSNATSDLNI
                     KVDGRAIVRGNEGVFIMGKTIEFHMGGNMELKAENSIILNGSVMVSTTRLPSSSSGDQ
                     LGSGDWVRYKLCMCADGTLFKVQVTSQNMGCQISDNPCGNTH"
     exon            74..283
                     /gene="SGCB"
                     /gene_synonym="A3b; LGMD2E; LGMDR4; SGC"
                     /inference="alignment:Splign:2.1.0"
     exon            284..469
                     /gene="SGCB"
                     /gene_synonym="A3b; LGMD2E; LGMDR4; SGC"
                     /inference="alignment:Splign:2.1.0"
     exon            470..661
                     /gene="SGCB"
                     /gene_synonym="A3b; LGMD2E; LGMDR4; SGC"
                     /inference="alignment:Splign:2.1.0"
     exon            662..793
                     /gene="SGCB"
                     /gene_synonym="A3b; LGMD2E; LGMDR4; SGC"
                     /inference="alignment:Splign:2.1.0"
     exon            794..4248
                     /gene="SGCB"
                     /gene_synonym="A3b; LGMD2E; LGMDR4; SGC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1234..1239
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGCB"
                     /gene_synonym="A3b; LGMD2E; LGMDR4; SGC"
                     /note="hexamer: AATAAA"
     polyA_site      1258
                     /gene="SGCB"
                     /gene_synonym="A3b; LGMD2E; LGMDR4; SGC"
     regulatory      4229..4234
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SGCB"
                     /gene_synonym="A3b; LGMD2E; LGMDR4; SGC"
                     /note="hexamer: AATAAA"
     polyA_site      4248
                     /gene="SGCB"
                     /gene_synonym="A3b; LGMD2E; LGMDR4; SGC"
                     /note="major polyA site"
ORIGIN      
        1 acagtcgggc ggggagctcg gcggcggcgg gcgcgggaag atggcggcag cggcggcggc
       61 ggctgcagaa cagcaaagtt ccaatggtcc tgtaaagaag tccatgcgtg agaaggctgt
      121 tgagagaagg agtgtcaata aagagcacaa cagtaacttt aaagctggat acattccgat
      181 tgatgaagat cgtctccaca aaacagggtt gagaggaaga aagggcaatt tagccatctg
      241 tgtgattatc ctcttgttta tcctggctgt catcaattta ataataacac ttgttatttg
      301 ggccgtgatt cgcattggac caaatggctg tgatagtatg gagtttcatg aaagtggcct
      361 gcttcgattt aagcaagtat ctgacatggg agtgatccac cctctttata aaagcacagt
      421 aggaggaagg cgaaatgaaa atttggtcat cactggcaac aaccagccta ttgtttttca
      481 gcaagggaca acaaagctca gtgtagaaaa caacaaaact tctattacaa gtgacatcgg
      541 catgcagttt tttgacccga ggactcaaaa tatcttattc agcacagact atgaaactca
      601 tgagtttcat ttgccaagtg gagtgaaaag tttgaatgtt caaaaggcat ctactgaaag
      661 gattaccagc aatgctacca gtgatttaaa tataaaagtt gatgggcgtg ctattgtgcg
      721 tggaaatgaa ggtgtattca ttatgggcaa aaccattgaa tttcacatgg gtggtaatat
      781 ggagttaaag gcggaaaaca gtatcatcct aaatggatct gtgatggtca gcaccacccg
      841 cctacccagt tcctccagtg gagaccagtt gggtagtggt gactgggtac gctacaagct
      901 ctgcatgtgt gctgatggga cgctcttcaa ggtgcaagta accagccaga acatgggctg
      961 ccaaatctca gacaacccct gtggaaacac tcattaaaag aaccccagag gtcaccaaca
     1021 tgtttatatc ttgacttgac ttttttatgc atgcaaatca ttgtttttac agagtttgtg
     1081 ataactcata attattttaa tggcagagca ctgctgtatc tgttttatgg tctacatagt
     1141 taaaatcttc tcagagagcc taaattctaa tacattttat taatttatac taatcttcat
     1201 atttactgtt ctctaaaata attatgagaa gcaaataaaa tcaaaagtca tgtttaaaga
     1261 cgtgttttta aaattccact atcccttttc taaaggttaa aggtctgaag cagctgttta
     1321 gattcactgt aagtaaactt tggtaactct aatggggata gacccactta agatatttaa
     1381 aaaggtatgg catcagcgtt tcatgctctg ccttttagct tctaaaagga aagatgcaga
     1441 tttctagtgc attaagcctg agccatattc tcacatgcaa gtgaagtcat taaagaactt
     1501 tacatatgtg agatagaaac aatggttcct tagttttgca ctgggaagaa aatattttgt
     1561 aaaagaatgt ttatttgaaa taatgataac tatcaattgt tcacaatgtg gtggaaatta
     1621 aaacaccatc tcagctttaa cttttaaata ataatgataa ctatctttat tgagcatctt
     1681 ctacatccta ggcattgtcc taggcattgc atgtttatat ccccaattct caccacaacc
     1741 ctgcaagtag gtggtattat ccaagtttta cccattaaga aactgaagat cagagaagtt
     1801 aagaaacttg ctcaacatca tatagtaagt agcagagttg ggattggaat tcaggcatga
     1861 ctcaaacctg gatgtacttg attccaaatg ccatgttgtt ttcactctct gcactgactt
     1921 tttaattatt taaaactcta gaaagatgaa caaaggttaa tttaaactta cctaagaaga
     1981 tgagaatcaa acaaaacaga tatgcttact ctagttaaaa agaaaataaa tctcatgtca
     2041 gacccagaaa ggaccaatca ctgtccgatt gtaagctatg ttgggccaat tccaaaatat
     2101 tatacgatgg agaggtcaaa tttacctact tctgagttac ctcagtttcc caacaatgga
     2161 ccttggcaca ctggagtaac aatacataac agagttgcca agatatttat accctcagca
     2221 ctcggggcaa cacagtggaa agtggggagg ccatagaccc aaacaagttc tttgggccag
     2281 gcatggccta gtaagtacac catgcctcga aaataagtcc agaagcactg gactaaagag
     2341 tgctaatgca ggaaataata cacataattt ttaggtaagg ataataattt atctctgctc
     2401 ctaatattac tatcccattg taattattta taaccctcaa gccagttgat ttttaatata
     2461 tttgattgga aaagaactct ctggtattat taagactcac acagaatcag ggacagggcc
     2521 cccaaaggag tttgctgtaa aataggcagt agagttgtgg catgggccca accctgcatt
     2581 caagtgtaac agcattctgt cagggtcact ttgaattgtg cacataagaa aaccaataca
     2641 aaaaacaatt tgtattcaat attgtcacat ttctctctgg tagaaaaatc aaatacctta
     2701 gagattatga agtcattaat ttatactgaa attggattga cttactacct aacactgagc
     2761 gctgttttta aatgaaaaga atgagattta taaccacttg agtgttattg cagtgatatt
     2821 tgaactcatt tgaatatatt cagtatcatt taatgtctga attcagaaaa aaatgccgaa
     2881 atttttattc agatggtcca taaattaaat tgcatattca ttacttatct gctctattta
     2941 gatttatttt aaaagtttat ttaagtaaat atttttataa aaaccagaaa acactgtatt
     3001 acaaaatatt atttattaaa tgtagttcag gaaataatct atttttactc ttttttggga
     3061 aatacttgtg tttttgatac atctccatga agttcttttg agaggagagg ctattttgat
     3121 gtttttatac aactgaaggt taacagccat agcattttat gatactttac aggtagtcct
     3181 ggctttttcc ctgaaacata agcttggaaa atctattaga aagcagaaca gggcaaactc
     3241 tccattttac ttatggcttt tctaattttt aattaattaa tttatttttt tgagacagag
     3301 tcttgttctg tcgccaggct ggagtgcagt ggcacaatct cggctctcgg ctcactgcaa
     3361 cctctgcctc ccaggttcaa gcgattctcc tgcctcagcc tcccgagtac ctgggactac
     3421 aggcatgtgc cacagttccc ggctaatttt tgtattttta gtagagacgg ggtttcacca
     3481 tgttggccag gatggtctca atctcttgac ctcgtgatct gcctgccttg gcctcccaaa
     3541 gtgctgggat tacaggtgtg agccaccacg cctggccggc ttatttttat ccacagtaaa
     3601 tcttcagcaa ctcattgtct ccaccagata gtatttttct gtaaatgaaa tgctgacttc
     3661 gcctcttcct gctgtatgct catccctgca ctgagcacag atatgacaag cagtagccat
     3721 gggggaggtg ggtgacaaag ataggacccc gggagggggc gcaggtacat gctagtttca
     3781 attaccacag tattctagag acgggttgca atgacaaggg gggcaaatga aatcaatgca
     3841 agatttctta ataatgggca gacagaaaaa tgtaaaacca cacaaaacgg actgctgata
     3901 atattttaaa atatacttat ttgtcttctt tttgcattgt gaaaaaaaca aaataaattt
     3961 tgtgtgataa ttttgatgat gaaaggtgga agttctacct agatttgaat gagtgttttt
     4021 ttaagggaat gagaatgtca tggtgctaaa cctgacaaat aagagatcat tgaaatgctg
     4081 aaaattttaa cagtcttctt aaaagtattg agggggcaaa aattaccaat tatggtatac
     4141 aaaaataagc ctataaatgt gtttcacatt gctaacttga gtttcagttg attcagtttg
     4201 taataactag taatgagctt ctgtttacaa taaaaattct gtaaattg
//
