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    MBNL2 muscleblind like splicing regulator 2 [ Homo sapiens (human) ]

    Gene ID: 10150, updated on 19-Sep-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with Parkinson's disease in southern Chinese population.

    SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with Parkinson's disease in southern Chinese population.
    Zhao A, Li Y, Niu M, Li G, Luo N, Zhou L, Kang W, Liu J., Free PMC Article

    05/15/2021
    MBNL2 Regulates DNA Damage Response via Stabilizing p21.

    MBNL2 Regulates DNA Damage Response via Stabilizing p21.
    Cai J, Wang N, Lin G, Zhang H, Xie W, Zhang Y, Xu N., Free PMC Article

    04/17/2021
    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.

    Muscleblind-like 2 controls the hypoxia response of cancer cells.
    Fischer S, Di Liddo A, Taylor K, Gerhardus JS, Sobczak K, Zarnack K, Weigand JE., Free PMC Article

    06/20/2020
    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.

    miR-23b and miR-218 silencing increase Muscleblind-like expression and alleviate myotonic dystrophy phenotypes in mammalian models.
    Cerro-Herreros E, Sabater-Arcis M, Fernandez-Costa JM, Moreno N, Perez-Alonso M, Llamusi B, Artero R., Free PMC Article

    12/22/2018
    Low MBNL2 expression is associated with hepatocellular carcinoma growth and invasion.

    Paradoxical overexpression of MBNL2 in hepatocellular carcinoma inhibits tumor growth and invasion.
    Lee YH, Jhuang YL, Chen YL, Jeng YM, Yuan RH., Free PMC Article

    03/10/2018
    Sense DMPK RNA foci clearly co-localize with MBNL1 and MBNL2 proteins and accumulate in myotonic dystrophy 1 tissues during development.

    Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development.
    Michel L, Huguet-Lachon A, Gourdon G., Free PMC Article

    05/21/2016
    both MBNL1 and MBNL2 are involved in the regulation of Tau exon 2 splicing and the mis-splicing of Tau in DM1 is due to the combined inactivation of both

    Tau exon 2 responsive elements deregulated in myotonic dystrophy type I are proximal to exon 2 and synergistically regulated by MBNL1 and MBNL2.
    Carpentier C, Ghanem D, Fernandez-Gomez FJ, Jumeau F, Philippe JV, Freyermuth F, Labudeck A, Eddarkaoui S, Dhaenens CM, Holt I, Behm-Ansmant I, Marmier-Gourrier N, Branlant C, Charlet-Berguerand N, Marie J, Schraen-Maschke S, Buée L, Sergeant N, Caillet-Boudin ML.

    04/26/2014
    consistent with a central and negative regulatory role for MBNL proteins in pluripotency, their knockdown significantly enhances the expression of key pluripotency genes and the formation of induced pluripotent stem cells during somatic cell reprogramming

    MBNL proteins repress ES-cell-specific alternative splicing and reprogramming.
    Han H, Irimia M, Ross PJ, Sung HK, Alipanahi B, David L, Golipour A, Gabut M, Michael IP, Nachman EN, Wang E, Trcka D, Thompson T, O'Hanlon D, Slobodeniuc V, Barbosa-Morais NL, Burge CB, Moffat J, Frey BJ, Nagy A, Ellis J, Wrana JL, Blencowe BJ., Free PMC Article

    06/29/2013
    We propose that major pathological features of the myotonic dystrophy brain result from disruption of the MBNL2-mediated developmental splicing program

    Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy.
    Charizanis K, Lee KY, Batra R, Goodwin M, Zhang C, Yuan Y, Shiue L, Cline M, Scotti MM, Xia G, Kumar A, Ashizawa T, Clark HB, Kimura T, Takahashi MP, Fujimura H, Jinnai K, Yoshikawa H, Gomes-Pereira M, Gourdon G, Sakai N, Nishino S, Foster TC, Ares M Jr, Darnell RB, Swanson MS., Free PMC Article

    10/20/2012
    Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

    06/30/2010
    solution structures of both tandem zinc finger (TZF) motifs, TZF12 (comprising ZF1 and ZF2) and TZF34 (ZF3 and ZF4), in MBNL2

    Solution structure of the RNA binding domain in the human muscleblind-like protein 2.
    He F, Dang W, Abe C, Tsuda K, Inoue M, Watanabe S, Kobayashi N, Kigawa T, Matsuda T, Yabuki T, Aoki M, Seki E, Harada T, Tomabechi Y, Terada T, Shirouzu M, Tanaka A, Güntert P, Muto Y, Yokoyama S., Free PMC Article

    01/21/2010
    MBNL1 and MBNL2 always co-distributed. Functional differences between MBNL1 and MBNL2 have not yet been found

    Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle.
    Holt I, Jacquemin V, Fardaei M, Sewry CA, Butler-Browne GS, Furling D, Brook JD, Morris GE., Free PMC Article

    01/21/2010
    MBNL proteins promote opposite splicing patterns for cardiac troponin T and insulin receptor alternative exons

    Muscleblind proteins regulate alternative splicing.
    Ho TH, Charlet-B N, Poulos MG, Singh G, Swanson MS, Cooper TA., Free PMC Article

    01/21/2010
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