MBNL2 — Muscleblind like splicing regulator 2
MBNL2 belongs to a gene co-expression module in 3 of 28 SCUBA cell types. Each module groups genes that rise and fall together in that cell type; the genes it shares a module with are its closest co-expression partners there.
MBNL2's module in each cell type
| Cell type | Module | Shares the module with | |
|---|---|---|---|
| Gamma-delta T cells | ER/Osmotic Stress Stress | ABHD3, DNAJA4, FKBP4, HIBCH, HSD17B7, HSPA4, HSPB1, MRPL18 +7 more | |
| Macrophages | MITF Lysosomal Program Lysosomal & pahgocytosis | ABHD3, ANKRD44, ARSB, C2CD5, CERS6, CHST11, CNST, DCTN4 +25 more | View in SCUBA |
| Mucosal-associated invariant T cell | Epigenetic Maintenance DNA/chromatin regulation | ATAD2B, ATXN10, DENND6A, DGLUCY, DMTF1, FYCO1, GALK2, HDLBP +13 more |
About the gene
| Synonyms | MBLL, MBLL39 |
|---|---|
| Chromosome | 13: 97221434-97394120 |
| Predicted location | Intracellular |
| Essential gene | No |
| Protein class | Predicted intracellular proteins |
| Molecular function | RNA-binding |
| Biological process | mRNA processing, mRNA splicing |
Function
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).
Human Protein Atlas · Open Targets · UniProt
Gene annotation from the Human Protein Atlas and UniProt; see sources & licences.