LOCUS       NP_001369612             391 aa            linear   PRI 30-APR-2025
DEFINITION  muscleblind-like protein 2 isoform 10 [Homo sapiens].
ACCESSION   NP_001369612 XP_006719975
VERSION     NP_001369612.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 391)
  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  (residues 1 to 391)
  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  (residues 1 to 391)
  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  (residues 1 to 391)
  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  (residues 1 to 391)
  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  (residues 1 to 391)
  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  (residues 1 to 391)
  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  (residues 1 to 391)
  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  (residues 1 to 391)
  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 (residues 1 to 391)
  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 XP_006719975.1.
            
            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##
FEATURES             Location/Qualifiers
     source          1..391
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q32.1"
     Protein         1..391
                     /product="muscleblind-like protein 2 isoform 10"
                     /note="muscleblind-like protein 2; muscleblind-like
                     protein 1; muscleblind-like protein-like 39;
                     muscleblind-like 2"
                     /calculated_mol_wt=42329
     Region          17..40
                     /region_name="ZnF_C3H1"
                     /note="zinc finger; smart00356"
                     /db_xref="CDD:214632"
     Region          178..202
                     /region_name="ZnF_C3H1"
                     /note="zinc finger; smart00356"
                     /db_xref="CDD:214632"
     CDS             1..391
                     /gene="MBNL2"
                     /gene_synonym="MBLL; MBLL39; PRO2032"
                     /coded_by="NM_001382683.1:804..1979"
                     /note="isoform 10 is encoded by transcript variant 32"
                     /db_xref="CCDS:CCDS91824.1"
                     /db_xref="GeneID:10150"
                     /db_xref="HGNC:HGNC:16746"
                     /db_xref="MIM:607327"
ORIGIN      
        1 malnvapvrd tkwltlevcr qfqrgtcsrs deeckfahpp kscqvengrv iacfdslkgr
       61 csrenckylh ppthlktqle ingrnnliqq ktaaamlaqq mqfmfpgtpl hpvptfpvgp
      121 aigtntaisf apylapvtpg vglvpteilp ttpvivpgsp pvtvpgstat qkllrtdkle
      181 vcrefqrgnc argetdcrfa hpadstmidt sdntvtvcmd yikgrcmrek ckyfhppahl
      241 qakikaaqhq anqaavaaqa aaaaatvmtq stakamkrpl eatvdlafpp galhplpkrq
      301 aleksngtsa vfnpsvlhyq qaltsaqlqq haafiptgsv lcmtpatsid nseiisrngm
      361 ecqesalrit khcyctyypv sssielpqta c
//
