MBNL2
Muscleblind-like splicing regulator 2
Gene Information Card
| Symbol | MBNL2 |
|---|---|
| Full Name | Muscleblind-like splicing regulator 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q32.1 |
| NCBI Gene ID | 10150 ncbi.nlm.nih.gov/gene/10150 |
| Ensembl ID | ENSG00000139793 |
| UniProt ID | Q5VZF2 |
| OMIM ID | 607327 |
| HGNC ID | 14646 |
| Aliases | MBLL, MBLL39, PRO2032 |
Description
MBNL2 encodes a member of the muscleblind-like family of RNA-binding proteins that regulate alternative splicing. It is involved in the development and maintenance of muscle and nervous system tissues. Dysregulation of MBNL2 is associated with myotonic dystrophy type 1 (DM1) due to sequestration by expanded CUG repeats in DMPK transcripts.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myotonic dystrophy type 1 (DM1) | Sequestration of MBNL2 by expanded CUG repeats in DMPK mRNA leads to splicing dysregulation | ClinVar, OMIM |
| Myotonic dystrophy type 2 (DM2) | Similar mechanism with CCUG repeats in CNBP/ZNF9 | OMIM |
| Hereditary inclusion body myopathy | Potential splicing defects due to MBNL2 dysfunction | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Brain (cerebellum) | 10.5 | Medium |
| Liver | 3.1 | Low |
| Kidney | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.9 | Cervical carcinoma |
| HEK293 | 7.2 | Embryonic kidney |
| SH-SY5Y | 6.5 | Neuroblastoma |
| HepG2 | 4.1 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function, potential splicing defects |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function |
| c.890G>A (p.Arg297Gln) | Missense | <0.01% | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants lead to truncated or absent protein, impairing splicing regulation.
Gain of Function (GOF)
No evidence of gain-of-function mutations in MBNL2.
Dominant Negative (DN)
Not reported for MBNL2.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA binding |
| • alternative mRNA splicing | • via spliceosome |
| • regulation of alternative mRNA splicing | • nucleus |
| • cytoplasm |
Pathways
• Alternative splicing regulation by MBNL proteins
• Myotonic dystrophy pathway
Protein Summary
MBNL2 is a 382-amino acid RNA-binding protein containing two CCCH-type zinc finger domains. It regulates alternative splicing of pre-mRNAs, particularly in muscle and brain. The protein shuttles between nucleus and cytoplasm and is critical for proper development and function of striated muscle and neurons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MBNL2 Knockout HEK293 Cell Line | EDJ-KQ6919 | Human | 10150 | Details Get a Quote |
| MBNL2 Knockout A-549 Cell Line | EDJ-KQ31556 | Human | 10150 | Details Get a Quote |
| MBNL2 Knockout HCT 116 Cell Line | EDJ-KQ31557 | Human | 10150 | Details Get a Quote |
| MBNL2 Knockout HeLa Cell Line | EDJ-KQ31558 | Human | 10150 | Details Get a Quote |
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