Gene
cbfb
- ID
- ZDB-GENE-980526-440
- Name
- core-binding factor subunit beta
- Symbol
- cbfb Nomenclature History
- Previous Names
-
- unp1266
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Enables protein heterodimerization activity. Contributes to DNA binding activity and transcription coregulator activity. Acts upstream of or within several processes, including heart contraction; lymphoid lineage cell migration into thymus; and myofibril assembly. Located in Z disc and nucleus. Part of core-binding activity factor complex. Is expressed in several structures, including digestive system; hematopoietic system; immune system; nervous system; and pericardial region. Human ortholog(s) of this gene implicated in acute myelomonocytic leukemia. Orthologous to human CBFB (core-binding factor subunit beta).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 13 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hg10 | Allele with one deletion | Exon 3 | Frameshift, Premature Stop | zinc finger nuclease | |
| hg11 | Allele with one insertion | Exon 3 | Frameshift, Premature Stop | zinc finger nuclease | |
| la020335Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa5910 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| w128 | Allele with one deletion | Exon 2 | Premature Stop | TALEN |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Cleidocranial dysplasia 2 | 620099 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Core-binding factor, beta subunit | Core-binding factor, beta subunit superfamily |
|---|---|---|---|---|
| UniProtKB:A0A140LGT1 | InterPro | 201 | ||
| UniProtKB:A0A0B4P506 | InterPro | 174 | ||
| UniProtKB:Q98U16 | InterPro | 187 | ||
| UniProtKB:A0A0B4P4A4 | InterPro | 188 | ||
| UniProtKB:A0A8M9PQ04 | InterPro | 180 |
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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 | CH211-212B13 | ZFIN Curated Data | |
| Contained in | BAC | CH211-262P15 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:193675 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_199209 (1) | 2731 nt | ||
| Genomic | GenBank:AL953894 (1) | 222376 nt | ||
| Polypeptide | UniProtKB:A0A140LGT1 (1) | 201 aa |
- Giffen, K.P., Liu, H., Kramer, K.L., He, D.Z. (2019) Expression of Protein-Coding Gene Orthologs in Zebrafish and Mouse Inner Ear Non-sensory Supporting Cells. Frontiers in neuroscience. 13:1117
- Tenno, M., Kojo, S., Lawir, D.F., Hess, I., Shiroguchi, K., Ebihara, T., Endo, T.A., Muroi, S., Satoh, R., Kawamoto, H., Boehm, T., Taniuchi, I. (2018) Cbfβ2 controls differentiation of and confers homing capacity to prethymic progenitors. The Journal of experimental medicine. 215(2):595-610
- Gau, P., Curtright, A., Condon, L., Raible, D.W., Dhaka, A. (2017) An ancient neurotrophin receptor code; a single Runx/Cbfβ complex determines somatosensory neuron fate specification in zebrafish. PLoS Genetics. 13:e1006884
- D'Aurizio, R., Russo, F., Chiavacci, E., Baumgart, M., Groth, M., D'Onofrio, M., Arisi, I., Rainaldi, G., Pitto, L., Pellegrini, M. (2016) Discovering miRNA Regulatory Networks in Holt-Oram Syndrome Using a Zebrafish Model. Frontiers in bioengineering and biotechnology. 4:60
- Marques, C.L., Cancela, M.L., Laizé, V. (2016) Transcriptional regulation of gilthead seabream bone morphogenetic protein (BMP) 2 gene by bone- and cartilage-related transcription factors. Gene. 576:229-36
- Monteiro, R., Pinheiro, P., Joseph, N., Peterkin, T., Koth, J., Repapi, E., Bonkhofer, F., Kirmizitas, A., Patient, R. (2016) Transforming Growth Factor β Drives Hemogenic Endothelium Programming and the Transition to Hematopoietic Stem Cells. Developmental Cell. 38(4):358-70
- Diotel, N., Viales, R.R., Armant, O., März, M., Ferg, M., Rastegar, S., Strähle, U. (2015) Comprehensive expression map of transcription regulators in the adult zebrafish telencephalon reveals distinct neurogenic niches. The Journal of comparative neurology. 523(8):1202-21
- 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
- Simões, B., Conceição, N., Matias, A.C., Bragança, J., Kelsh, R.N., Cancela, M.L. (2015) Molecular characterization of cbfβ gene and identification of new transcription variants: Implications for function. Archives of biochemistry and biophysics. 567:1-12
- Bresciani, E., Carrington, B., Wincovitch, S., Jones, M., Gore, A.V., Weinstein, B.M., Sood, R., Liu, P.P. (2014) CBFβ and RUNX1 are required at 2 different steps during the development of hematopoietic stem cells in zebrafish. Blood. 124(1):70-8
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