MBNL3 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0043484Biological processregulation of RNA splicing
GO_0045662Biological processnegative regulation of myoblast differentiation
GO_0008380Biological processRNA splicing
GO_0006397Biological processmRNA processing
GO_0005654Cellular componentnucleoplasm
GO_0005829Cellular componentcytosol
GO_0005737Cellular componentcytoplasm
GO_0005515Molecular functionprotein binding
GO_0046872Molecular functionmetal ion binding
GO_0003723Molecular functionRNA binding

IV. Literature review

[source]
Gene nameMBNL3
Protein nameMuscleblind-like protein 3 (Cys3His CCG1-required protein) (Muscleblind-like X-linked protein) (Protein HCHCR)
Muscleblind like splicing regulator 3
SynonymsMBLX39
MBXL
CHCR
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. May play a role in myotonic dystrophy pathophysiology (DM). Could inhibit terminal muscle differentiation, acting at approximately the time of myogenin induction. .

AccessionsENST00000538204.6 [Q9NUK0-4]
ENST00000442191.6
ENST00000436215.5
ENST00000370849.7 [Q9NUK0-3]
ENST00000370839.7 [Q9NUK0-2]
ENST00000473364.2
B1AKI2
B1AKI5
ENST00000698663.1
ENST00000421707.1
B1AKI6
ENST00000370857.7
Q9NUK0
ENST00000394311.7 [Q9NUK0-5]
ENST00000370853.8 [Q9NUK0-1]
B1AKI4
A0A8V8TM16
A0A8V8TNS0
ENST00000370844.5 [Q9NUK0-5]
ENST00000698664.1 [Q9NUK0-1]