MBNL2

MBNL2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2E5S, 2RPP
Identifiers
Aliases	MBNL2 , MBLL, MBLL39, PRO2032, muscleblind like splicing regulator 2
External IDs	OMIM: 607327; MGI: 2145597; HomoloGene: 76766; GeneCards: MBNL2; OMA:MBNL2 - orthologs
Gene location (Human) Chr. Chromosome 13 (human) [1] Band 13q32.1 Start 97,221,434 bp [1] End 97,394,120 bp [1]
Gene location (Mouse) Chr. Chromosome 14 (mouse) [2] Band 14|14 E4 Start 120,513,081 bp [2] End 120,669,109 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell external globus pallidus right ventricle inferior ganglion of vagus nerve lateral nuclear group of thalamus subthalamic nucleus pars reticulata pons pars compacta optic nerve Top expressed in hand interventricular septum otolith organ utricle mammillary body lateral septal nucleus ventromedial nucleus superior cervical ganglion olfactory tubercle foot More reference expression data BioGPS More reference expression data
Gene ontology Molecular function metal ion binding RNA binding Cellular component cytoplasm nucleus nucleoplasm Biological process regulation of RNA splicing mRNA processing regulation of alternative mRNA splicing, via spliceosome RNA splicing Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10150 105559 Ensembl ENSG00000139793 ENSMUSG00000022139 UniProt Q5VZF2 Q8C181 RefSeq (mRNA) NM_001306070 NM_144778 NM_207304 NM_175341 NM_207515 NM_001360376 NM_001360377 NM_001360378 NM_001360379 NM_001360380 RefSeq (protein) NP_001292999 NP_659002 NP_997187 NP_001369578 NP_001369579 NP_001369580 NP_001369581 NP_001369582 NP_001369583 NP_001369585 NP_001369589 NP_001369590 NP_001369592 NP_001369595 NP_001369596 NP_001369597 NP_001369598 NP_001369599 NP_001369600 NP_001369601 NP_001369602 NP_001369603 NP_001369604 NP_001369605 NP_001369606 NP_001369607 NP_001369608 NP_001369609 NP_001369610 NP_001369611 NP_001369612 NP_001369613 NP_001369614 NP_001369615 NP_001369616 NP_001369617 NP_001369618 NP_001369619 NP_001369620 NP_001369621 NP_001369622 NP_001369623 NP_001369624 NP_001369625 NP_001369626 NP_780550 NP_997398 NP_001347305 NP_001347306 NP_001347307 NP_001347308 NP_001347309 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]

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

• 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. Bibcode:2004Natur.428..522D. 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. Bibcode:2002PNAS...9916899M. 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

• MBNL2 human gene location in the UCSC Genome Browser .
• MBNL2 human gene details in the UCSC Genome Browser .