Ensembl ID
ENSG00000139793
Gene ID
10150
Accession
16746
Gene Symbol
MBNL2
Alias
MBLL;MBLL39;PRO2032
Full Name
muscleblind like splicing regulator 2
Position
13 : 97221434 - 97394120
Length
172687 bases
Strand
Plus strand
Status
Confidence
Main interacting RNAs mRNA RBP type
Canonical_RBPs
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]
ENSG00000139793 Expression In 33 Tumors
Ensembl ID
Gene symbol
Log2 Foldchange
Pvaue
Cancer
ENSG00000139793
MBNL2
-1.0
1.38e-40
BRCA
ENSG00000139793
MBNL2
-1.0
1.38e-15
KICH
ENSG00000139793
MBNL2
-1.1
1.82e-23
LUSC
ENSG00000139793
MBNL2
-1.1
1.65e-24
PRAD
ENSG00000139793
MBNL2
-2.1
2.38e-17
GBM
ENSG00000139793
MBNL2
-1.3
4.70e-25
LIHC
ENSG00000139793
MBNL2
-1.6
8.71e-34
UCEC
Ensembl ID
Gene symbol
Cancer types
Pubmed ID
ENSG00000139793
MBNL2
tumors
17054779
ENSG00000139793
MBNL2
tumor
27564110
ENSG00000139793
MBNL2
prostate cancer
29643985
ENSG00000139793
MBNL2
tumor
31320607
Ensembl ID
Gene symbol
Disease/phenotype
Mutation type
Mutated / Total samples
Literature
Ensembl ID
Gene symbol
Cancer
P-value
Which worse
show
ENSG00000139793
MBNL2
MESO
0.047
high
show
ENSG00000139793
MBNL2
SARC
0.00027
low
show
ENSG00000139793
MBNL2
STAD
0.014
high
show
ENSG00000139793
MBNL2
UVM
0.013
low
show
ENSG00000139793
MBNL2
PAAD
0.00035
high
show
ENSG00000139793
MBNL2
UCEC
0.038
high
show
ENSG00000139793
MBNL2
ACC
0.015
low
show
ENSG00000139793
MBNL2
LGG
0.0071
high
show
ENSG00000139793
MBNL2
THYM
0.017
low
show
ENSG00000139793
MBNL2
COAD
0.033
low
show
ENSG00000139793
MBNL2
LAML
0.039
low
show
ENSG00000139793
MBNL2
SKCM
0.0052
low
show
Ensembl ID
Gene symbol
Cancer
CNV type
-log10(q-value)
G-score
average amplitude
frequency
ENSG00000139793
MBNL2
CESC
Amp
1.796306
0.171997
0.543274
0.203390
ENSG00000139793
MBNL2
READ
Amp
1.113249
0.146575
1.017866
0.703030
ENSG00000139793
MBNL2
COAD
Amp
3.995845
0.124749
0.904458
0.580931
ENSG00000139793
MBNL2
SARC
Del
1.370864
0.141124
0.584656
0.455253
ENSG00000139793
MBNL2
THCA
Del
0.708100
0.008462
0.568368
0.030060
ENSG00000139793
MBNL2
LIHC
Amp
7.215183
0.245498
0.816377
0.167568
ENSG00000139793
MBNL2
BRCA
Amp
0.865888
0.148807
0.620255
0.148148
ENSG00000139793
MBNL2
STAD
Amp
0.822027
0.134711
0.547613
0.367347
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