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MBNL2

From Wikipedia, the free encyclopedia
MBNL2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMBNL2, MBLL, MBLL39, PRO2032, muscleblind like splicing regulator 2
External IDsOMIM: 607327; MGI: 2145597; HomoloGene: 76766; GeneCards: MBNL2; OMA:MBNL2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001306070
NM_144778
NM_207304

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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000139793Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022139Ensembl, 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. ^ a b "Entrez Gene: MBNL2 muscleblind-like 2 (Drosophila)".

Further reading

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