Gene
sbf2
- ID
- ZDB-GENE-030911-10
- Name
- SET binding factor 2
- Symbol
- sbf2 Nomenclature History
- Previous Names
-
- cmt4b2
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be active in cytoplasm and membrane. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4B2. Orthologous to human SBF2 (SET binding factor 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Zhu et al., 2020
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la016215Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la016217Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa2358 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa6088 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa21129 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa34231 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38653 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa45300 | Allele with one point mutation | Unknown | Splice Site | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Charcot-Marie-Tooth disease type 4B2 | Alliance | Charcot-Marie-Tooth disease, type 4B2 | 604563 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | cDENN domain | dDENN domain | DENN domain, C-terminal lobe | GRAM domain | Myotubularin | Myotubularin-like, phosphatase domain | Myotubularin-related protein 13, PH-GRAM domain | PH-like domain superfamily | Pleckstrin homology domain | Protein-tyrosine phosphatase-like | SBF1/SBF2 domain | Tripartite DENN domain | uDENN domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9QI58
|
1845 | |||||||||||||
|
UniProtKB:A0A2R8PXC7
|
1873 | |||||||||||||
|
UniProtKB:E7F4G2
|
1898 |
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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 | CH73-7I17 | ZFIN Curated Data | |
| Contained in | BAC | CH73-12L20 | ZFIN Curated Data | |
| Contained in | BAC | CH211-168K15 | ZFIN Curated Data | |
| Contained in | BAC | CH211-194N18 | ZFIN Curated Data | |
| Contained in | BAC | RP71-83M15 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_009303601 (1) | 6865 nt | ||
| Genomic | GenBank:AL935125 (1) | 160047 nt | ||
| Polypeptide | UniProtKB:E7F4G2 (1) | 1898 aa |
- Zhu, Z., Liu, Y., Xu, W., Liu, T., Xie, Y., Sham, K.W.Y., Sha, O., Cheng, C.H.K. (2020) Functional Characterization and Expression Analyses Show Differential Roles of Maternal and Zygotic Dgcr8 in Early Embryonic Development. Frontiers in genetics. 11:299
- England, S.J., Campbell, P.C., Banerjee, S., Swanson, A.J., Lewis, K.E. (2017) Identification and Expression Analysis of the Complete Family of Zebrafish pkd Genes.. Frontiers in cell and developmental biology. 5:5
- 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
- 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
- Lo, J., Lee, S., Xu, M., Liu, F., Ruan, H., Eun, A., He, Y., Ma, W., Wang, W., Wen, Z., and Peng, J. (2003) 15,000 unique zebrafish EST clusters and their future use in microarray for profiling gene expression patterns during embryogenesis. Genome research. 13(3):455-466
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