MBNL2

This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012]

Description

Muscleblind like splicing regulator 2

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

13 (97221434 - 97394120)

Ensembl ID

ENSG00000139793  (ver. 103.38)

Orthologs

Mouse Mbnl2: ENSMUSG00000022139

UniProt

Q5VZF2

neXtProt

NX_Q5VZF2

Human splice variants
Mouse splice variants

Protein structure