Gene
mbnl2
- ID
- ZDB-GENE-030131-9582
- Name
- muscleblind-like splicing regulator 2
- Symbol
- mbnl2 Nomenclature History
- Previous Names
-
- fj89c04
- wu:fj89c04
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to enable metal ion binding activity. Acts upstream of or within several processes, including eye development; muscle cell development; and muscle organ development. Is expressed in several structures, including chordo neural hinge; gonad; nervous system; pectoral fin bud; and solid lens vesicle. Used to study myotonic disease. Orthologous to human MBNL2 (muscleblind like splicing regulator 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| b1360 | Allele with one deletion | Exon 4 | Frameshift, Premature Stop | CRISPR | |
| la013593Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la021033Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa9005 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa19403 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa32578 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Human Disease
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | E3 ligase, CCCH-type zinc finger | Muscleblind-like, CCCH zinc finger | Zinc finger, CCCH-type |
|---|---|---|---|---|
|
UniProtKB:F1Q5U6
|
208 | |||
|
UniProtKB:B8JIV1
|
371 | |||
|
UniProtKB:A0A8M2BFL2
|
388 | |||
|
UniProtKB:A0A8M9PUY2
|
351 | |||
|
UniProtKB:A0A8M3AWR8
|
383 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-181L4 | ZFIN Curated Data | |
| Contained in | BAC | DKEYP-67E7 | ZFIN Curated Data | |
| Encodes | EST | fj89c04 | ||
| Encodes | cDNA | MGC:198089 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001161670 (1) | 4051 nt | ||
| Genomic | GenBank:CR847928 (1) | 160252 nt | ||
| Polypeptide | UniProtKB:A0A8M2BFL2 (1) | 388 aa |
- Hinman, M.N., Richardson, J.I., Sockol, R.A., Aronson, E.D., Stednitz, S.J., Murray, K.N., Berglund, J.A., Guillemin, K. (2021) Zebrafish mbnl mutants model physical and molecular phenotypes of myotonic dystrophy. Disease models & mechanisms. 14(6):
- Nikonova, E., Kao, S.Y., Ravichandran, K., Wittner, A., Spletter, M.L. (2019) Conserved functions of RNA-binding proteins in muscle. The international journal of biochemistry & cell biology. 110:29-49
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Machuca-Tzili, L.E., Buxton, S., Thorpe, A., Timson, C.M., Wigmore, P., Luther, P.K., and Brook, J.D. (2011) Zebrafish deficient for Muscleblind-like 2 exhibit features of myotonic dystrophy. Disease models & mechanisms. 4(3):381-392
- Rösel, T.D., Hung, L.H., Medenbach, J., Donde, K., Starke, S., Benes, V., Rätsch, G., and Bindereif, A. (2011) RNA-Seq analysis in mutant zebrafish reveals role of U1C protein in alternative splicing regulation. The EMBO journal. 30(10):1965-1976
- Liu, Y.F., Liu, H.Y., Tu, L.C., Lin, C.W., Hsiao, K.M., and Pan, H. (2008) Zebrafish muscleblind-like genes: Identification, structural features and expression. Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology. 151(1):118-124
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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