Gene
bcl11ba
- ID
- ZDB-GENE-061207-62
- Name
- BCL11 transcription factor B a
- Symbol
- bcl11ba Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to be part of SWI/SNF complex. Predicted to be active in nucleus. Is expressed in thymus. Human ortholog(s) of this gene implicated in immunodeficiency 49. Orthologous to human BCL11B (BCL11 transcription factor B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 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 |
---|---|---|---|---|---|
a238 | Allele with one deletion | Unknown | Unknown | CRISPR | |
la019962Tg | Transgenic insertion | Unknown | Unknown | DNA | |
la027819Tg | Transgenic insertion | Unknown | Unknown | DNA | |
mn0240Gt | Transgenic insertion | Unknown | Unknown | DNA | |
sa2902 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa6468 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa16831 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa23039 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa36375 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
uab448 | Allele with one deletion | Intron 2 | Unknown | CRISPR |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-bcl11ba | Thyme et al., 2019 | |
MO1-bcl11ba | N/A | (2) |
MO2-bcl11ba | N/A | (2) |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
immunodeficiency 49 | Alliance | Immunodeficiency 49, severe combined | 617237 |
Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities | 618092 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | CTCF-like, C2H2 zinc finger | Developmental and Hematopoietic Transcription Factors | Zinc finger C2H2 superfamily | Zinc finger C2H2-type |
---|---|---|---|---|---|---|
UniProtKB:A0A2R8Q8A6 | InterPro | 814 | ||||
UniProtKB:A0A8M3AR85 | InterPro | 813 | ||||
UniProtKB:X1WBZ3 | InterPro | 776 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
bcl11ba-202
(1)
|
Ensembl | 1,065 nt | ||
mRNA |
bcl11ba-203
(1)
|
Ensembl | 3,240 nt | ||
mRNA |
bcl11ba-204
(1)
|
Ensembl | 6,099 nt | ||
mRNA |
bcl11ba-205
(1)
|
Ensembl | 8,016 nt | ||
ncRNA |
bcl11ba-003
(1)
|
Ensembl | 543 nt |
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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 | CH211-262A18 | ZFIN Curated Data | |
Contained in | BAC | DKEY-238I13 | ZFIN Curated Data | |
Encodes | EST | fj43a03 | ||
Encodes | cDNA | MGC:165628 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001328406 (1) | 8016 nt | ||
Genomic | GenBank:CR382377 (2) | 105441 nt | ||
Polypeptide | UniProtKB:A0A2R8Q8A6 (1) | 814 aa |
- Lu, H.Y., Sertori, R., Contreras, A.V., Hamer, M., Messing, M., Del Bel, K.L., Lopez-Rangel, E., Chan, E.S., Rehmus, W., Milner, J.D., McNagny, K.M., Lehman, A., Wiest, D.L., Turvey, S.E. (2021) A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation. Frontiers in immunology. 12:788278
- Xia, J., Kang, Z., Xue, Y., Ding, Y., Gao, S., Zhang, Y., Lv, P., Wang, X., Ma, D., Wang, L., Han, J.J., Liu, F. (2021) A single-cell resolution developmental atlas of hematopoietic stem and progenitor cell expansion in zebrafish. Proceedings of the National Academy of Sciences of the United States of America. 118(14):
- Ichino, N., Serres, M.R., Urban, R.M., Urban, M.D., Treichel, A.J., Schaefbauer, K.J., Greif, L.E., Varshney, G.K., Skuster, K.J., McNulty, M.S., Daby, C.L., Wang, Y., Liao, H.K., El-Rass, S., Ding, Y., Liu, W., Anderson, J.L., Wishman, M.D., Sabharwal, A., Schimmenti, L.A., Sivasubbu, S., Balciunas, D., Hammerschmidt, M., Farber, S.A., Wen, X.Y., Xu, X., McGrail, M., Essner, J.J., Burgess, S.M., Clark, K.J., Ekker, S.C. (2020) Building the vertebrate codex using the gene breaking protein trap library. eLIFE. 9:
- Loontiens, S., Vanhauwaert, S., Depestel, L., Dewyn, G., Van Loocke, W., Moore, F.E., Garcia, E.G., Batchelor, L., Borga, C., Squiban, B., Malone-Perez, M., Volders, P.J., Olexiouk, V., Van Vlierberghe, P., Langenau, D.M., Frazer, J.K., Durinck, K., Speleman, F. (2020) A novel TLX1-driven T-ALL zebrafish model: comparative genomic analysis with other leukemia models. Leukemia. 34(12):3398-3403
- Thyme, S.B., Pieper, L.M., Li, E.H., Pandey, S., Wang, Y., Morris, N.S., Sha, C., Choi, J.W., Herrera, K.J., Soucy, E.R., Zimmerman, S., Randlett, O., Greenwood, J., McCarroll, S.A., Schier, A.F. (2019) Phenotypic Landscape of Schizophrenia-Associated Genes Defines Candidates and Their Shared Functions. Cell. 177(2):478-491.e20
- Tang, Q., Iyer, S., Lobbardi, R., Moore, J.C., Chen, H., Lareau, C., Hebert, C., Shaw, M.L., Neftel, C., Suva, M.L., Ceol, C.J., Bernards, A., Aryee, M., Pinello, L., Drummond, I.A., Langenau, D.M. (2017) Dissecting hematopoietic and renal cell heterogeneity in adult zebrafish at single-cell resolution using RNA sequencing. The Journal of experimental medicine. 214(10):2875-2887
- Hu, P., Liu, M., Liu, Y., Wang, J., Zhang, D., Niu, H., Jiang, S., Wang, J., Zhang, D., Han, B., Xu, Q., Chen, L. (2016) Transcriptome comparison reveals a genetic network regulating the lower temperature limit in fish. Scientific Reports. 6:28952
- Punwani, D., Zhang, Y., Yu, J., Cowan, M.J., Rana, S., Kwan, A., Adhikari, A.N., Lizama, C.O., Mendelsohn, B.A., Fahl, S.P., Chellappan, A., Srinivasan, R., Brenner, S.E., Wiest, D.L., Puck, J.M. (2016) Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B. The New England Journal of Medicine. 375:2165-2176
- Wei, Y., Xu, J., Zhang, W., Wen, Z., Liu, F. (2016) RNA polymerase III component Rpc9 regulates hematopoietic stem and progenitor cell maintenance in zebrafish. Development (Cambridge, England). 143(12):2103-10
- 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
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