MBNL2 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0043484Biological processregulation of RNA splicing
GO_0008380Biological processRNA splicing
GO_0006397Biological processmRNA processing
GO_0005654Cellular componentnucleoplasm
GO_0005737Cellular componentcytoplasm
GO_1990837Molecular functionsequence-specific double-stranded DNA binding
GO_0046872Molecular functionmetal ion binding
GO_0003723Molecular functionRNA binding

IV. Literature review

[source]
Gene nameMBNL2
Protein nameMuscleblind-like protein 2 (Muscleblind-like protein 1) (Muscleblind-like protein-like) (Muscleblind-like protein-like 39)
Muscleblind like splicing regulator 2 (Muscleblind-like 2 (Drosophila), isoform CRA_b) (Zinc finger protein)
Muscleblind-like 2 (Drosophila), isoform CRA_a (cDNA FLJ76890, highly similar to Homo sapiens muscleblind-like 2 (Drosophila) (MBNL2), transcript variant 3, mRNA) (cDNA, FLJ79493, highly similar to Homo sapiens muscleblind-like 2 (Drosophila) (MBNL2), transcript variant 3, mRNA)
MBNL2 protein
Muscleblind like splicing regulator 2
SynonymsMBLL
MBLL39
hCG_27557
MLP1
DescriptionFUNCTION: Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. RNA-binding protein that binds to 5'ACACCC-3' core sequence, termed zipcode, within the 3'UTR of ITGA3. Binds to CUG triplet repeat expansion in myotonic dystrophy muscle cells by sequestering the target RNAs. Together with RNA binding proteins RBPMS and RBFOX2, activates vascular smooth muscle cells alternative splicing events (By similarity). Regulates NCOR2 alternative splicing (By similarity). Seems to regulate expression and localization of ITGA3 by transporting it from the nucleus to cytoplasm at adhesion plaques. May play a role in myotonic dystrophy pathophysiology (DM). .

AccessionsENST00000449284.1
ENST00000397601.5 [Q5VZF2-3]
A0A8I5KYZ5
A0A994J509
Q5JSC0
A0A8I5KU79
A0A7P0T9I3
ENST00000345429.10 [Q5VZF2-2]
ENST00000685165.1
A0A994J506
ENST00000692685.1
ENST00000704364.1
ENST00000704373.1
A2A3S3
ENST00000376673.8 [Q5VZF2-1]
ENST00000343600.9 [Q5VZF2-3]
A0PJJ3
ENST00000679496.1
O95205
ENST00000469707.5
Q5VZF2