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Gene : MBNL2 Homo sapiens

Name  ? muscleblind like splicing regulator 2 Cytological Location  13q32.1
Brief Description  muscleblind like splicing regulator 2
description  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]
  • synonyms:
  • MBNL2,
  • muscleblind-like 2 (Drosophila),
  • MBLL,
  • muscleblind-like splicing regulator 2,
  • PRO2032,
  • uc001vmz.5,
  • MBLL39,
  • OTTHUMG00000017239,
  • MBLL39,
  • AF061261,
  • NM_144778,
  • HGNC:16746,
  • MBLL
  • identifiers:
  • 10150,
  • ENSG00000139793,
  • MBNL2

Genome feature

Region: gene ? Length: 171832  
Location: 13:97222289-97394120 Cyto location: 13q32.1


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Disease

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Mouse Gene --> Allele [Phenotype]

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0 Pathways

455 SN Ps

5 Cross References

15 Data Sets

8 Homologues

0 Located Features

90 Rna Seq Results