Gene: MBNL2

Alternate names for this Gene: MBLL|MBLL39|PRO2032

Gene 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.

Gene is located in Chromosome: 13

Location in Chromosome : 13q32.1

Description of this Gene: muscleblind like splicing regulator 2

Type of Gene: protein-coding

rs12019957 in MBNL2 gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs9556711 in MBNL2 gene and Alcohol-Induced Disorders PMID 21529783 2011 A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.

rs9556711 in MBNL2 gene and Alcohol-Related Disorders PMID 21529783 2011 A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.

rs9556711 in MBNL2 gene and Alcoholic Intoxication, Chronic PMID 21529783 2011 A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.

rs55684003 in MBNL2 gene and Diastolic blood pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs7318250 in MBNL2 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.