LOCUS       NM_001382683            4650 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens muscleblind like splicing regulator 2 (MBNL2),
            transcript variant 32, mRNA.
ACCESSION   NM_001382683 XM_006719912
VERSION     NM_001382683.1
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 4650)
  AUTHORS   Cai,J., Wang,N., Lin,G., Zhang,H., Xie,W., Zhang,Y. and Xu,N.
  TITLE     MBNL2 Regulates DNA Damage Response via Stabilizing p21
  JOURNAL   Int J Mol Sci 22 (2), 783 (2021)
   PUBMED   33466733
  REMARK    GeneRIF: MBNL2 Regulates DNA Damage Response via Stabilizing p21.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4650)
  AUTHORS   Zhao,A., Li,Y., Niu,M., Li,G., Luo,N., Zhou,L., Kang,W. and Liu,J.
  TITLE     SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with
            Parkinson's disease in southern Chinese population
  JOURNAL   J Cell Mol Med 24 (15), 8744-8752 (2020)
   PUBMED   32652860
  REMARK    GeneRIF: SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated
            with Parkinson's disease in southern Chinese population.
REFERENCE   3  (bases 1 to 4650)
  AUTHORS   Fischer,S., Di Liddo,A., Taylor,K., Gerhardus,J.S., Sobczak,K.,
            Zarnack,K. and Weigand,J.E.
  TITLE     Muscleblind-like 2 controls the hypoxia response of cancer cells
  JOURNAL   RNA 26 (5), 648-663 (2020)
   PUBMED   32127384
  REMARK    GeneRIF: MBNL2 induction was critical for hypoxia adaptation by
            controlling the transcript abundance of hypoxia response genes,
            such as vascular endothelial growth factor A (VEGFA) MBNL2
            depletion reduced the proliferation and migration of cancer cells,
            demonstrating an important role of MBNL2 as cancer driver.
REFERENCE   4  (bases 1 to 4650)
  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 4650)
  AUTHORS   Cerro-Herreros,E., Sabater-Arcis,M., Fernandez-Costa,J.M.,
            Moreno,N., Perez-Alonso,M., Llamusi,B. and Artero,R.
  TITLE     miR-23b and miR-218 silencing increase Muscleblind-like expression
            and alleviate myotonic dystrophy phenotypes in mammalian models
  JOURNAL   Nat Commun 9 (1), 2482 (2018)
   PUBMED   29946070
  REMARK    GeneRIF: Functional depletion of the alternative splicing factors
            Muscleblind-like (MBNL 1 and 2) is at the basis of the
            neuromuscular disease myotonic dystrophy type 1 (DM1). Here, we
            screen for miRNAs that regulate MBNL1 and MBNL2 in HeLa cells. We
            thus identify miR-23b and miR-218, and confirm that they
            downregulate MBNL proteins in this cell line.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4650)
  AUTHORS   Paul,S., Dansithong,W., Kim,D., Rossi,J., Webster,N.J., Comai,L.
            and Reddy,S.
  TITLE     Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in
            DM1-associated aberrant IR splicing
  JOURNAL   EMBO J 25 (18), 4271-4283 (2006)
   PUBMED   16946708
REFERENCE   7  (bases 1 to 4650)
  AUTHORS   Adereth,Y., Dammai,V., Kose,N., Li,R. and Hsu,T.
  TITLE     RNA-dependent integrin alpha3 protein localization regulated by the
            Muscleblind-like protein MLP1
  JOURNAL   Nat Cell Biol 7 (12), 1240-1247 (2005)
   PUBMED   16273094
  REMARK    Erratum:[Nat Cell Biol. 2006 Jan;8(1):100]
REFERENCE   8  (bases 1 to 4650)
  AUTHORS   Ho,T.H., Charlet-B,N., Poulos,M.G., Singh,G., Swanson,M.S. and
            Cooper,T.A.
  TITLE     Muscleblind proteins regulate alternative splicing
  JOURNAL   EMBO J 23 (15), 3103-3112 (2004)
   PUBMED   15257297
  REMARK    GeneRIF: MBNL proteins promote opposite splicing patterns for
            cardiac troponin T and insulin receptor alternative exons
REFERENCE   9  (bases 1 to 4650)
  AUTHORS   Christian,S.L., McDonough,J., Liu Cy,C.Y., Shaikh,S., Vlamakis,V.,
            Badner,J.A., Chakravarti,A. and Gershon,E.S.
  TITLE     An evaluation of the assembly of an approximately 15-Mb region on
            human chromosome 13q32-q33 linked to bipolar disorder and
            schizophrenia
  JOURNAL   Genomics 79 (5), 635-656 (2002)
   PUBMED   11991713
REFERENCE   10 (bases 1 to 4650)
  AUTHORS   Fardaei,M., Rogers,M.T., Thorpe,H.M., Larkin,K., Hamshere,M.G.,
            Harper,P.S. and Brook,J.D.
  TITLE     Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with
            nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
  JOURNAL   Hum Mol Genet 11 (7), 805-814 (2002)
   PUBMED   11929853
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161430.19 and AL442067.16.
            
            On May 18, 2020 this sequence version replaced XM_006719912.3.
            
            Summary: This gene is a member of the muscleblind protein family
            which was initially described in Drosophila melanogaster. This gene
            encodes a C3H-type zinc finger protein that modulates alternative
            splicing of pre-mRNAs. Muscleblind proteins bind specifically to
            expanded dsCUG RNA but not to normal size CUG repeats and may
            thereby play a role in the pathophysiology of myotonic dystrophy.
            Several alternatively spliced transcript variants have been
            described but the full-length natures of only some have been
            determined. [provided by RefSeq, Mar 2012].
            
            Transcript Variant: This variant (32) encodes the longest isoform
            (10).
            
            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 :: SRR14038194.1630034.1,
                                           SRR1660807.26873.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000679496.1/ ENSP00000505596.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-199               AL161430.19        25932-26130
            200-977             AL161430.19        79231-80008
            978-1142            AL161430.19        137875-138039
            1143-1343           AL161430.19        146615-146815
            1344-1607           AL161430.19        150403-150666
            1608-1661           AL442067.16        3204-3257
            1662-1815           AL442067.16        3890-4043
            1816-1851           AL442067.16        11544-11579
            1852-4650           AL442067.16        37730-40528
FEATURES             Location/Qualifiers
     source          1..4650
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q32.1"
     gene            1..4650
                     /gene="MBNL2"
                     /gene_synonym="MBLL; MBLL39; PRO2032"
                     /note="muscleblind like splicing regulator 2"
                     /db_xref="GeneID:10150"
                     /db_xref="HGNC:HGNC:16746"
                     /db_xref="MIM:607327"
     exon            1..199
                     /gene="MBNL2"
                     /gene_synonym="MBLL; MBLL39; PRO2032"
                     /inference="alignment:Splign:2.1.0"
     exon            200..977
                     /gene="MBNL2"
                     /gene_synonym="MBLL; MBLL39; PRO2032"
                     /inference="alignment:Splign:2.1.0"
     CDS             804..1979
                     /gene="MBNL2"
                     /gene_synonym="MBLL; MBLL39; PRO2032"
                     /note="isoform 10 is encoded by transcript variant 32;
                     muscleblind-like protein 2; muscleblind-like protein 1;
                     muscleblind-like protein-like 39; muscleblind-like 2"
                     /codon_start=1
                     /product="muscleblind-like protein 2 isoform 10"
                     /protein_id="NP_001369612.1"
                     /db_xref="CCDS:CCDS91824.1"
                     /db_xref="GeneID:10150"
                     /db_xref="HGNC:HGNC:16746"
                     /db_xref="MIM:607327"
                     /translation="MALNVAPVRDTKWLTLEVCRQFQRGTCSRSDEECKFAHPPKSCQ
                     VENGRVIACFDSLKGRCSRENCKYLHPPTHLKTQLEINGRNNLIQQKTAAAMLAQQMQ
                     FMFPGTPLHPVPTFPVGPAIGTNTAISFAPYLAPVTPGVGLVPTEILPTTPVIVPGSP
                     PVTVPGSTATQKLLRTDKLEVCREFQRGNCARGETDCRFAHPADSTMIDTSDNTVTVC
                     MDYIKGRCMREKCKYFHPPAHLQAKIKAAQHQANQAAVAAQAAAAAATVMTQSTAKAM
                     KRPLEATVDLAFPPGALHPLPKRQALEKSNGTSAVFNPSVLHYQQALTSAQLQQHAAF
                     IPTGSVLCMTPATSIDNSEIISRNGMECQESALRITKHCYCTYYPVSSSIELPQTAC"
     exon            978..1142
                     /gene="MBNL2"
                     /gene_synonym="MBLL; MBLL39; PRO2032"
                     /inference="alignment:Splign:2.1.0"
     exon            1143..1343
                     /gene="MBNL2"
                     /gene_synonym="MBLL; MBLL39; PRO2032"
                     /inference="alignment:Splign:2.1.0"
     exon            1344..1607
                     /gene="MBNL2"
                     /gene_synonym="MBLL; MBLL39; PRO2032"
                     /inference="alignment:Splign:2.1.0"
     exon            1608..1661
                     /gene="MBNL2"
                     /gene_synonym="MBLL; MBLL39; PRO2032"
                     /inference="alignment:Splign:2.1.0"
     exon            1662..1815
                     /gene="MBNL2"
                     /gene_synonym="MBLL; MBLL39; PRO2032"
                     /inference="alignment:Splign:2.1.0"
     exon            1816..1851
                     /gene="MBNL2"
                     /gene_synonym="MBLL; MBLL39; PRO2032"
                     /inference="alignment:Splign:2.1.0"
     exon            1852..4650
                     /gene="MBNL2"
                     /gene_synonym="MBLL; MBLL39; PRO2032"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4628..4633
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MBNL2"
                     /gene_synonym="MBLL; MBLL39; PRO2032"
                     /note="hexamer: AATAAA"
     polyA_site      4650
                     /gene="MBNL2"
                     /gene_synonym="MBLL; MBLL39; PRO2032"
                     /note="major polyA site"
ORIGIN      
        1 agactgtctt tgcttcatca tctgaaggta aaattttcca gatacggcag acggctttca
       61 gagtacaata aacagggaat gagaactatt tacatggaag tttctttctc atgatgcggt
      121 ggagaagcct cggccacttg gttctgccag atgttcctgg ggttactgta aatgggaagg
      181 acaggcagag ctaaacaagg tttatcattt aaaagtgcct gtgtgaagtc acttttgctg
      241 gaaaactgca gcttgggagc tttctttgta ttcacatccc actcttctgt caagtacact
      301 ttaccctgac cttatgagtg gatgaagata cctcagttgt ctgactttgc caattgctta
      361 atttcagaat ttaaaaaggg gaaagaaaaa catcctgcta aaatatgaac atctgagtgt
      421 cttattttcc aacatcgtca atagctgtga gcgtcagcat taaatattct cccaaggagt
      481 gccatgatat tgaagtcact ttattaataa cagctgtatc tgcaaaacag tcaagagact
      541 cggacgttga aagccagaga tgacactgag catgctttta ttgcggccta ccatctttaa
      601 gtgggacata ttgattgatg agtgattgcc tgtccataca ctctctcatc atcctgttcc
      661 ttggattgga cttcactaag caatttatca ctcaccttca gacttacatg tgggagtttt
      721 cacaacagta gttttggaat cattagaact tggattgatt tcatcattta acagaaacaa
      781 acagcccaaa ttactttatc accatggctt tgaacgttgc cccagtcaga gatacaaaat
      841 ggctgacatt agaagtctgc agacagtttc aaagaggaac atgctcacgc tctgatgaag
      901 aatgcaaatt tgctcatccc cccaaaagtt gtcaggttga aaatggaaga gtaattgcct
      961 gctttgattc cctaaagggc cgttgttcga gagagaactg caagtatctt caccctccga
     1021 cacacttaaa aactcaacta gaaattaatg gaaggaacaa tttgattcag caaaaaactg
     1081 cagcagcaat gcttgcccag cagatgcaat ttatgtttcc aggaacacca cttcatccag
     1141 tgcccacttt ccctgtaggt cccgcgatag ggacaaatac ggctattagc tttgctcctt
     1201 acctagcacc tgtaacccct ggagttgggt tggtcccaac ggaaattctg cccaccacgc
     1261 ctgttattgt tcccggaagt ccaccggtca ctgtcccggg ctcaactgca actcagaaac
     1321 ttctcaggac tgacaaactg gaggtatgca gggagttcca gcgaggaaac tgtgcccggg
     1381 gagagaccga ctgccgcttt gcacaccccg cagacagcac catgatcgac acaagtgaca
     1441 acaccgtaac cgtttgtatg gattacataa aggggcgttg catgagggag aaatgcaaat
     1501 attttcaccc tcctgcacac ttgcaggcca aaatcaaagc tgcgcagcac caagccaacc
     1561 aagctgcggt ggccgcccag gcagccgcgg ccgcggccac agtcatgact cagtcgactg
     1621 ccaaagcaat gaagcgacct ctcgaagcaa ctgtagacct ggcctttccc cctggtgctc
     1681 ttcatccttt accaaagaga caagcacttg aaaaaagcaa tggtaccagc gcggtcttta
     1741 accccagcgt cttgcactac cagcaggctc tcaccagcgc acagttgcag caacacgccg
     1801 cgttcattcc aacagggtca gttttgtgca tgacacccgc taccagtatt gataattctg
     1861 aaataatcag cagaaacgga atggaatgcc aagaatctgc attgagaata actaaacatt
     1921 gttactgtac atactatcct gtttcctcct caatagaatt gccacaaact gcatgctaaa
     1981 taaagatgta gttcttctgg acagaccaca actctaagaa gctagtgctg ctatctcata
     2041 tatgagtatt aaatatggta tgcttagtat attccaacct aagatagtta actacctgag
     2101 accagctgtg atgtttaaag acataaagga taaagtttac ttttaaaggg tttctaaaca
     2161 tagtttctgt cctaggaata ttgtcttatc tccataacta tagctgatgc agaaagtcca
     2221 gccagtttac tcatttcgat tcagaatatt tcaaatttag caataaacaa ttagcattag
     2281 ttaaaaaaga aacatattcc aagggcaggt tcgattctag ctctaattac tgtcatgtca
     2341 tttacccact ggatcaaagg gtatgtttca cttcttgaca atataaatgc tgcagcaaag
     2401 atgagaggtg aagtaaaacc gatacctgtc ctgcaggtct aaaatttgaa tggaaattca
     2461 agcacaagta ctggggacac atcaaagtgt ggtgtttggt ttgcctggag atgccacgtt
     2521 gaatcatgtg attctagatt aacattaaat agattgaaaa agaaactttg cacggtatga
     2581 gcttcatacc ccaccaaaca aagtcttgaa ggtattattt tacaagtata tttttaaagt
     2641 tgttttataa gagagacttt gtagaagtgc ctagattttg ccagacttca tccagcttga
     2701 caagattgag aggcccatgc caacagtcta atctaagaga ttagtctttc aaactcacca
     2761 tccagttgcc tgttacagaa taactcttct taactaaaaa cctagtcaaa caaggaagct
     2821 gtaggtgagg agatctgtat aatattctaa tttaagtaag tttgagttta gtcactgcaa
     2881 atttgactgt gactttaatc taaattacta tgtaaacaaa aagtagatag tttcactttt
     2941 taaaaaatcc attactgttt tgcatttcaa aagttggatt aaagggttgt aactgactac
     3001 agcatggaaa aaaatagttc ttttaattct ttcaccttaa agcatatttt atgtctcaaa
     3061 agtataaaaa actttaatac aagtacatac atattatata tacacataca tatatatact
     3121 atatatggat gaaacatatt ttaatgttgt ttactttttt aaatacttgg ttgatcttca
     3181 aggtaatagc gatacaatta aattttgttc agaaagtttg ttttaaagtt tattttaagc
     3241 actatcgtac caaatatttc atatttcaca ttttatatgt tgcacatagc ctatacagta
     3301 cctacatagt ttttaaatta ttgtttaaaa aacaaaacag ctgttataaa tgaatattat
     3361 gtgtaattgt ttcaaacatc cattttcttt gtgaacatat tagtgattga agtattttga
     3421 cttttgagat tgaatgtaaa atattttaaa tttgggatca tcgcctgttc tgaaaactag
     3481 atgcaccaac cgtatcatta tttgtttgag gaaaaaaaga aatctgcatt ttaattcatg
     3541 ttggtcaaag tcgaattact atctatttat cttatatcgt agatctgata accctatcta
     3601 aaagaaagtc acacgctaaa tgtattctta catagtgctt gtatcgttgc atttgtttta
     3661 atttgtggaa aagtattgta tctaacttgt attactttgg tagtttcatc tttatgtatt
     3721 attgatattt gtaattttct caactataac aatgtagtta cgctacaact tgcctaaaac
     3781 attcaaactt gttttctttt ttctgttttt ttctttgtta attcatttaa actcattgaa
     3841 aacatagtat acattactaa aaggtaaatt atgggaatca ctgaaatatt tttgtagatt
     3901 aattgttgta acattgtctt tctttttttt cttttgtttc atgattttga tttttaaaat
     3961 tattagcaca caactatttt cagcccttta ataatggagc atcaaaaaca tcacctgtaa
     4021 ccccaagcaa atatagaaga ctgtattttt tactatgata tccattttcc agaattgtga
     4081 ttacaatatg caaagagtca taaatatgcc atttacaata aggaggaggc aaggcaaatg
     4141 catagatgta caaatatatg tacaacagat tttgcttttt atttatttat aatgtaattt
     4201 tatagaataa ttctgggatt tgagaggatc taaaactatt tttctgtata aatattattt
     4261 gccaaaagtt tgtttatatt cagaagtctg actatgatga ataaatctta aatgctttgt
     4321 ttaattaaaa aacaaaaatc accaatatcc aagacatgaa gatatcagtt caacaaatac
     4381 tgtagttaag agactaactc tccacttgta tgggaactac atttcactct tggttttcag
     4441 gatataacag cacttcaccg aaatattctt tcagccatac cactggtaac atttctacta
     4501 aatctttctg taacacttaa agaattccct cattcattac cttacagtgt aaacaggagt
     4561 ctaatttgta tcaatactat gttttggttg taatattcag ttcactcacc caatgtacaa
     4621 ccaatgaaat aaaagaagca tttaaaagga
//
