
Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
MBNL2
Introduction
Muscleblind-like protein 2 is a protein that in humans is encoded by the MBNL2 gene.[1][2]
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.[2]
References
References
- ↑ 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.
- ↑ 2.0 2.1 “Entrez Gene: MBNL2 muscleblind-like 2 (Drosophila)”.
Further reading
Further reading
- Adereth Y, Dammai V, Kose N, et al. (2006). “RNA-dependent integrin α3 protein localization regulated by the Muscleblind-like protein MLP1”. Nat. Cell Biol. 7 (12): 1240–7. doi:10.1038/ncb1335. PMC 2365307. PMID 16273094.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). “The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)”. Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Ho TH, Charlet-B N, Poulos MG, et al. (2005). “Muscleblind proteins regulate alternative splicing”. EMBO J. 23 (15): 3103–12. doi:10.1038/sj.emboj.7600300. PMC 514918. PMID 15257297.
- Dunham A, Matthews LH, Burton J, et al. (2004). “The DNA sequence and analysis of human chromosome 13”. Nature. 428 (6982): 522–8. doi:10.1038/nature02379. PMC 2665288. PMID 15057823.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). “Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences”. Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Christian SL, McDonough J, Liu Cy CY, et al. (2002). “An evaluation of the assembly of an approximately 15-Mb region on human chromosome 13q32-q33 linked to bipolar disorder and schizophrenia”. Genomics. 79 (5): 635–56. doi:10.1006/geno.2002.6765. PMID 11991713.
External links
External links
- MBNL2 human gene location in the UCSC Genome Browser.
- MBNL2 human gene details in the UCSC Genome Browser.
