DISEASES

Disease-gene associations mined from literature

Literature associating MBNL2 and myotonic dystrophy type 1

MBNL2 [ENSP00000267287]

Muscleblind-like splicing regulator 2; Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. RNA-binding protein that binds to 5'ACACCC-3' core sequence, termed zipcode, within the 3'UTR of ITGA3. Binds to CUG triplet repeat expansion in myotonic dystrophy muscle cells by sequestering the target RNAs. Seems to regulate expression and localization of ITGA3 by transporting it from the nucleus to cytoplasm at adhesion plaques. May play a role in myotonic dystrophy pathophysiology (DM); Zinc fingers CCCH-type

Synonyms:  MBNL2,  MBNL2p,  hMBNL2,  A0PJJ3,  A2A3S3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM