Property Summary

NCBI Gene PubMed Count 19
Grant Count 39
R01 Count 16
Funding $3,852,552.69
PubMed Score 12.33
PubTator Score 12.43

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (24)

Disease log2 FC p
astrocytoma -1.500 0.003
ependymoma 1.200 0.009
psoriasis -1.300 0.001
glioblastoma -2.100 0.000
oligodendroglioma -1.300 0.000
osteosarcoma 3.500 0.000
group 4 medulloblastoma -1.800 0.000
atypical teratoid / rhabdoid tumor -2.000 0.000
medulloblastoma, large-cell -2.800 0.000
primitive neuroectodermal tumor -1.800 0.000
fascioscapulohumeral muscular dystrophy 1.079 0.007
hereditary spastic paraplegia -1.263 0.019
Atopic dermatitis 1.100 0.020
non-small cell lung cancer -1.017 0.000
lung cancer -1.900 0.000
pediatric high grade glioma -1.800 0.000
lung adenocarcinoma -1.300 0.000
Pick disease -1.600 0.002
progressive supranuclear palsy -1.800 0.013
Breast cancer -1.300 0.000
ovarian cancer -1.400 0.000
Gaucher disease type 3 -1.700 0.004
Down syndrome 1.600 0.005
dermatomyositis -1.900 0.001

Gene RIF (8)

PMID Text
26339785 Sense DMPK RNA foci clearly co-localize with MBNL1 and MBNL2 proteins and accumulate in myotonic dystrophy 1 tissues during development.
24440524 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
23739326 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
22884328 We propose that major pathological features of the myotonic dystrophy brain result from disruption of the MBNL2-mediated developmental splicing program
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19177353 solution structures of both tandem zinc finger (TZF) motifs, TZF12 (comprising ZF1 and ZF2) and TZF34 (ZF3 and ZF4), in MBNL2
19095965 MBNL1 and MBNL2 always co-distributed. Functional differences between MBNL1 and MBNL2 have not yet been found
15257297 MBNL proteins promote opposite splicing patterns for cardiac troponin T and insulin receptor alternative exons

AA Sequence

MALNVAPVRDTKWLTLEVCRQFQRGTCSRSDEECKFAHPPKSCQVENGRVIACFDSLKGRCSRENCKYLH      1 - 70
PPTHLKTQLEINGRNNLIQQKTAAAMLAQQMQFMFPGTPLHPVPTFPVGPAIGTNTAISFAPYLAPVTPG     71 - 140
VGLVPTEILPTTPVIVPGSPPVTVPGSTATQKLLRTDKLEVCREFQRGNCARGETDCRFAHPADSTMIDT    141 - 210
SDNTVTVCMDYIKGRCMREKCKYFHPPAHLQAKIKAAQHQANQAAVAAQAAAAAATVMAFPPGALHPLPK    211 - 280
RQALEKSNGTSAVFNPSVLHYQQALTSAQLQQHAAFIPTGSVLCMTPATSIDNSEIISRNGMECQESALR    281 - 350
ITKHCYCTYYPVSSSIELPQTAC                                                   351 - 373
//

Text Mined References (20)

PMID Year Title
26339785 2015 Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development.
24440524 2014 Tau exon 2 responsive elements deregulated in myotonic dystrophy type I are proximal to exon 2 and synergistically regulated by MBNL1 and MBNL2.
23739326 2013 MBNL proteins repress ES-cell-specific alternative splicing and reprogramming.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22884328 2012 Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
21529783 2011 A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19177353 2009 Solution structure of the RNA binding domain in the human muscleblind-like protein 2.
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