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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MBNL3
muscleblind like splicing regulator 3
Chromosome X · Xq26.2
NCBI Gene: 55796Ensembl: ENSG00000076770.16HGNC: HGNC:20564UniProt: A0A8V8TNS0
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingprotein bindingregulation of RNA splicingnucleoplasmOligomenorrheaPolymenorrheaMenorrhagiahepatocellular carcinoma
✦AI Summary

MBNL3 is an RNA-binding protein that functions as a splicing regulator with context-dependent activity 1. It promotes insulin receptor (IR) pre-mRNA exon 11 inclusion while repressing cardiac troponin T (cTNT) exon 5 inclusion in muscle 1. The functional domains mediating both splicing activation and repression are located within an 80-amino-acid regulatory region downstream of the N-terminal zinc-finger pair, distinct from the RNA-binding domains themselves 1. Among MBNL paralogs, MBNL3 exhibits the lowest splicing activity but is notably the most static and densely packed on pathogenic CUG expansion RNAs implicated in myotonic dystrophy 2. Beyond its classical role in muscle splicing, emerging evidence reveals MBNL3's involvement in cancer progression across multiple tumor types. In cholangiocarcinoma, high MBNL3 expression correlates with improved overall survival and modulates epithelial-mesenchymal transition (EMT), focal adhesion, and immune cell infiltration 3. Conversely, in gastric adenocarcinoma and pancreatic ductal adenocarcinoma, MBNL3 promotes cell proliferation, invasion, and angiogenesis through AKT/VEGFA pathway activation and metastatic potential 45. In leukemia, MBNL3 downregulation drives malignant reprogramming via reversion to embryonic splice isoforms, particularly CD44v3 overexpression 6. MBNL3 expression is also regulated by microRNAs (miR-302e, miR-302a) and transcription factors (TBP), modulating cancer-associated phenotypes 478.

Sources cited
1
MBNL3 promotes IR exon 11 inclusion and cTNT exon 5 skipping; contains regulatory domains for splicing activation and repression separate from zinc-finger binding domains
PMID: 21109529
2
MBNL3 shows lowest splicing activity among paralogs but is most static and densely packed on CUG expansion RNA
PMID: 27733504
3
High MBNL3 expression associated with better overall survival in cholangiocarcinoma and modulates EMT and immune cell infiltration
PMID: 41203616
4
MBNL3 overexpression facilitates gastric adenocarcinoma proliferation, invasion, and angiogenesis via miR-302e targeting and AKT/VEGFA pathway activation
PMID: 38955795
5
MBNL3 identified as strong regulator of pancreatic ductal adenocarcinoma cell invasion independent of proliferation
PMID: 32001790
6
MBNL3 downregulation in chronic myeloid leukemia drives reversion to embryonic alternative splicing program and CD44v3 overexpression
PMID: 26621726
7
MBNL3 expression is regulated by miR-302a and modulates radiosensitivity of non-small cell lung cancer
PMID: 31928130
8
TBP transactivates MBNL3 to promote hepatocellular carcinoma metastasis through epithelial-mesenchymal transition
PMID: 37314767
Disease Associationsⓘ20
OligomenorrheaOpen Targets
0.14Weak
MenorrhagiaOpen Targets
0.12Weak
PolymenorrheaOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
cholangiocarcinomaOpen Targets
0.07Suggestive
appendicitisOpen Targets
0.07Suggestive
Distal myopathy, Nonaka typeOpen Targets
0.06Suggestive
exercise intolerance, riboflavin-responsiveOpen Targets
0.06Suggestive
myopathy, distal, 5Open Targets
0.06Suggestive
myopathy, distal, 6, adult-onset, autosomal dominantOpen Targets
0.05Suggestive
GNE myopathyOpen Targets
0.05Suggestive
myopathy, sarcoplasmic bodyOpen Targets
0.05Suggestive
tubular aggregate myopathyOpen Targets
0.05Suggestive
myofibrillar myopathy 3Open Targets
0.05Suggestive
tibial muscular dystrophyOpen Targets
0.05Suggestive
Proximal spinal muscular atrophy type 4Open Targets
0.05Suggestive
spinal muscular atrophy, type IVOpen Targets
0.05Suggestive
polyglucosan body myopathy type 2Open Targets
0.05Suggestive
autosomal recessive limb-girdle muscular dystrophy type 2GOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CLK1Shared pathway100%HNRNPH2Shared pathway100%RBM12Shared pathway100%MBNL2Shared pathway100%ESRP1Shared pathway100%RBM38Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Brain
56%
Bone Marrow
51%
Lung
12%
Ovary
12%
Heart
9%
Gene Interaction Network
Click a node to explore
MBNL3CLK1HNRNPH2RBM12MBNL2ESRP1RBM38
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NUK0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.48Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.25 [0.13–0.48]
RankingsWhere MBNL3 stands among ~20K protein-coding genes
  • #12,386of 20,598
    Most Researched28
  • #2,847of 17,882
    Most Constrained (LOEUF)0.48 · top quartile
Genes detectedMBNL3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
MBNL3 regulates tumor progression and metastasis in cholangiocarcinoma and serves as a prognostic biomarker.
PMID: 41203616
Sci Rep · 2025
1.00
2
Identification of MBNL1 and MBNL3 domains required for splicing activation and repression.
PMID: 21109529
Nucleic Acids Res · 2011
0.90
3
MBNL3 Acts as a Target of miR-302e to Facilitate Cell Proliferation, Invasion and Angiogenesis of Gastric Adenocarcinoma via AKT/VEGFA Pathway.
PMID: 38955795
J Microbiol Biotechnol · 2024
0.80
4
KANSL2 and MBNL3 are regulators of pancreatic ductal adenocarcinoma invasion.
PMID: 32001790
Sci Rep · 2020
0.70
5
Mechanistic determinants of MBNL activity.
PMID: 27733504
Nucleic Acids Res · 2016
0.60