MBNL2

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

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
Orthologs
SpeciesHumanMouse
Entrez

10150

105559

Ensembl

ENSG00000139793

ENSMUSG00000022139

UniProt

Q5VZF2

Q8C181

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

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

  1. GRCh38: Ensembl release 89: ENSG00000139793 - Ensembl, May 2017
  2. 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. "Entrez Gene: MBNL2 muscleblind-like 2 (Drosophila)".

Further reading


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