MBNL2

Last updated
MBNL2
Protein MBNL2 PDB 2E5S.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases MBNL2 , MBLL, MBLL39, PRO2032, muscleblind like splicing regulator 2
External IDs OMIM: 607327 MGI: 2145597 HomoloGene: 76766 GeneCards: MBNL2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001306070
NM_144778
NM_207304

RefSeq (protein)
Location (UCSC) Chr 13: 97.22 – 97.39 Mb Chr 14: 120.51 – 120.67 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Muscleblind-like protein 2 is a protein that in humans is encoded by the MBNL2 gene. [5] [6]

This gene encodes a C3H-type zinc finger protein, which is similar to the Drosophila melanogaster muscleblind B protein. Drosophila muscleblind is a gene required for photoreceptor differentiation. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [6]

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Muscleblind Like Splicing Regulator 1 (MBNL1) is an RNA splicing protein that in humans is encoded by the MBNL1 gene. It has a well characterized role in Myotonic dystrophy where impaired splicing disrupts muscle development and function. In addition to regulating mRNA maturation of hundreds of genes MBNL1 autoregulate alternative splicing of the MBNL1 pre-mRNA transcript. The founding member of the human MBNL family of proteins was the Drosophila Muscleblind protein.

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000139793 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022139 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS, Brook JD (Apr 2002). "Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells". Hum Mol Genet. 11 (7): 805–14. doi: 10.1093/hmg/11.7.805 . PMID   11929853.
  6. 1 2 "Entrez Gene: MBNL2 muscleblind-like 2 (Drosophila)".

Further reading