Gene
bcl11ab
- ID
- ZDB-GENE-061009-4
- Name
- BCL11 transcription factor A b
- Symbol
- bcl11ab Nomenclature History
- Previous Names
-
- si:ch211-127m10.2
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within brain development. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in autism spectrum disorder; beta thalassemia; schizophrenia; and sickle cell anemia. Orthologous to human BCL11A (BCL11 transcription factor A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Ramachandran et al., 2012
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Bagheri et al., 2016
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hu3292 | Allele with one point mutation | Unknown | Unknown | ENU | |
| sa12590 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa33799 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa33800 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Dias-Logan syndrome | 617101 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Developmental and Hematopoietic Transcription Factors | Zinc finger C2H2 superfamily | Zinc finger C2H2-type |
|---|---|---|---|---|
|
UniProtKB:A2BE84
|
776 | |||
|
UniProtKB:A0A8M9PZU7
|
592 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
bcl11ab-201
(1)
|
Ensembl | 2,605 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(hsp70l:bcl11ab-EGFP) |
|
| 1 | Ding et al., 2020 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-127M10 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001100951 (1) | 2605 nt | ||
| Genomic | GenBank:BX005290 (1) | 186793 nt | ||
| Polypeptide | UniProtKB:A2BE84 (1) | 776 aa |
- Ding, Y., Wang, W., Ma, D., Liang, G., Kang, Z., Xue, Y., Zhang, Y., Wang, L., Heng, J., Zhang, Y., Liu, F. (2020) Smarca5 mediated epigenetic programming facilitates fetal HSPC development in vertebrates. Blood. 137(2):190-202
- Bagheri, H., Badduke, C., Qiao, Y., Colnaghi, R., Abramowicz, I., Alcantara, D., Dunham, C., Wen, J., Wildin, R.S., Nowaczyk, M.J., Eichmeyer, J., Lehman, A., Maranda, B., Martell, S., Shan, X., Lewis, S.M., O'Driscoll, M., Gregory-Evans, C.Y., Rajcan-Separovic, E. (2016) Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis. JCI insight. 1:e85461
- 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
- Ramachandran, R., Zhao, X.F., and Goldman, D. (2012) Insm1a-mediated gene repression is essential for the formation and differentiation of Müller glia-derived progenitors in the injured retina. Nature cell biology. 14(10):1013-1023
- Bajoghli, B., Aghaallaei, N., Hess, I., Rode, I., Netuschil, N., Tay, B.H., Venkatesh, B., Yu, J.K., Kaltenbach, S.L., Holland, N.D., Diekhoff, D., Happe, C., Schorpp, M., and Boehm, T. (2009) Evolution of genetic networks underlying the emergence of thymopoiesis in vertebrates. Cell. 138(1):186-197
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