muscleblind-like protein 2 (muscleblind-like protein-like, muscleblind-like protein-like 39, muscleblind-like protein 1, MBNL2, MBLL, MBLL39, MLP1)

Function

• RNA-binding protein that binds to 5'ACACCC-3' core sequence
• regulates expression & localization of ITGA3 by transporting it from the nucleus to cytoplasm

Structure

• belongs to the muscleblind family
• contains 4 C3H1-type zinc fingers

Compartment

• nucleus, cytoplasm
• greaterconcentration in the nucleus
• expressed in or near large cytoplasmic plaques
• location in the cytoplasm is microtubule-dependent

Alternative splicing

named isoforms=3

Expression

• expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney & pancreas

Pathology

• may play a role in myotonic dystrophy pathophysiology
• binds to CUG triplet repeat expansion in myotonic dystrophy muscle cells by sequestering the target RNAs
• colocalizes with nuclear foci of retained expanded-repeat transcripts

More general terms

• RNA-binding protein
• zinc finger protein

Database

• OMIM: https://mirror.omim.org/entry/607327
• UniProt: http://www.uniprot.org/uniprot/Q5VZF2.html