Symbol: Name: ID: |
MBNL2 muscleblind-like 2 (Drosophila) GFS:5835 |
Gene name: | MBNL2 |
Chromosome: | 13q31.1 |
Previous Symbols: | |
Previous Names: | |
Aliases: | MBLL, MBLL39 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2145597 | Rat Genome Database ID: | |
HGNC ID: | HGNC:16746 | RefSeq IDs: | NM_144778 |
Entrez Gene ID: | 10150 | Ensembl Gene ID: | ENSG00000139793 |
VEGA IDs: | OTTHUMG00000017239 | UniProt ID: | Q5VZF2 |
UCSC ID: | uc001vmz.2 | OMIM ID: | 607327 |
Pubmed: | PMID11929853 | ||
CCDS IDs: | CCDSCCDS9483.1 CCDS CCDS9484.1 |
This gene encodes a C3H-type zinc finger protein, which is similar to the Drosophila melanogaster muscleblind B protein. Drosophila muscleblind is a gene required for photoreceptor differentiation. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Jul 2008].
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. Seems to regulates 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).
Products for MBNL2 gene
Catalog | Product Name | Application | Company |
GFS:E05835 | muscleblind-like 2 (Drosophila); ELISA kit | ELISA | n/a |
GFS:A05835 | muscleblind-like 2 (Drosophila); Anti | ANTIBODIES | n/a |
GFS:P05835 | muscleblind-like 2 (Drosophila); Protien | Protien | n/a |