Gene Name	MBNL2
Gene ID	10150
Gene Full Name	muscleblind like splicing regulator 2
Gene Alias	MBLL|MBLL39|PRO2032
Transcripts	ENSG00000139793
Virus	HPV
Gene Type	protein-coding
HPA Location Info	Nucleoplasm;
Membrane Info	Predicted intracellular proteins
Uniport_ID	Q5VZF2
HGNC ID	HGNC:16746
OMIM ID	607327
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]

Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section

DVID	Chromosome	HM	TFBS	CA	Sum of Overlapped Records	Detail
5001642	chr13	25	1	0	26	View
5011038	chr13	267	303	201	771	View

Data ID	Experiment type	Sample number	Platform
C   GSE183048	Chip-seq	24	Illumina HiSeq 4000 (Homo sapiens)
GSE226620	scRNA-seq	30	HiSeq X Ten (Homo sapiens)
GSE40774	Expression array	134	Agilent-026652 Whole Human Genome Microarray 4x44K v2 (Probe Name version)
GSE169622	Methylation profiling (Array)	9	Infinium MethylationEPIC
GSE65858	Expression array	270	Illumina HumanHT-12 V4.0 expression beadchip
GSE181805	Expression array	25	[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version]
GSE196215	RNA-seq	8	Illumina NovaSeq 6000 (Homo sapiens)
GSE164690	scRNA-seq	51	Illumina NextSeq 500 (Homo sapiens)
GSE138080	Expression array	35	Agilent-014850 Whole Human Genome Microarray 4x44K G4112F (Feature Number version)
GSE140662	Expression array	8	[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version]
GSE55542	Expression array	36	Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version)
C   GSE143026	ATAC-seq;Chip-seq;RNA-seq	30	Illumina HiSeq 2500 (Homo sapiens)
TCGA_CESC	DNA methylation sequencing;RNA-seq	288	TCGA
GSE51993	Expression array	48	Illumina Human v2 MicroRNA expression beadchip;Illumina HumanHT-12 V4.0 expression beadchip
GSE197461	scRNA-seq	16	Illumina NovaSeq 6000 (Homo sapiens)
GSE55550	Expression array	155	Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version)
GSE165883	RNA-seq	20	Illumina NextSeq 500 (Homo sapiens)

• Genome binding/occupancy profiling

When the gene can detect a peak in the dataset, a peak plot will be displayed.

> Dataset: GSE183048 - MBNL2 peak across samples

Peak Plot

> Dataset: GSE143026 - MBNL2 peak across samples

Peak Plot