MBNL2
Description
The MBNL2 (muscleblind like splicing regulator 2) is a protein-coding gene located on chromosome 13.
MBNL2 is a protein encoded by the MBNL2 gene in humans. It is a C3H-type zinc finger protein that is similar to the muscleblind B protein found in Drosophila melanogaster. This protein is important for photoreceptor differentiation in flies. Multiple splice variants of the MBNL2 gene have been identified, but the complete structure of only some is known.
MBNL2 regulates alternative splicing of pre-mRNA, acting as both an activator and repressor depending on the target. It inhibits the inclusion of an exon in cardiac troponin-T (TNNT2) pre-mRNA but promotes the inclusion of an exon in insulin receptor (IR) pre-mRNA in muscle. MBNL2 also counteracts the splicing activity of CELF proteins. It binds to a specific sequence called 'zipcode' in the 3'UTR of ITGA3 and to CUG repeats in myotonic dystrophy muscle cells, potentially playing a role in the disease. MBNL2 interacts with other RNA binding proteins like RBPMS and RBFOX2 to regulate splicing in vascular smooth muscle cells. It also regulates the alternative splicing of NCOR2. Furthermore, MBNL2 seems to control the expression and localization of ITGA3 by transporting it from the nucleus to the cytoplasm at adhesion plaques.
MBNL2 is also known as MBLL, MBLL39, PRO2032.
Associated Diseases
- Parkinson disease
- cancer
- autosomal recessive limb-girdle muscular dystrophy type 2C
- exercise intolerance, riboflavin-responsive
- autosomal recessive limb-girdle muscular dystrophy type 2P
- paramyotonia congenita of Von Eulenburg
- inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- muscular dystrophy, limb-girdle, autosomal recessive 23
- myopathy, centronuclear, 6, with fiber-type disproportion
