MBNL2, Official Symbol MBNL2provided by HGNC Official Full Name muscleblind like splicing regulator 2provided by HGNC Primary source HGNC:HGNC:16746 See related Ensembl:ENSG00000139793 MIM:607327; AllianceGenome:HGNC:16746 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MBLL; MBLL39; PRO2032 Summary 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] Expression Ubiquitous expression in fat (RPKM 36.8), adrenal (RPKM 33.8) and 25 other tissues See more Orthologs mouse all