ZFIN is now using GRCz12tu for Genomic Data
Gene
bcl11bb
- ID
- ZDB-GENE-110201-2
- Name
- BCL11 transcription factor B b
- Symbol
- bcl11bb Nomenclature History
- Previous Names
-
- bcl11b.2 (1)
- im:7142702
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- 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 active in nucleus. Is expressed in brain and 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
- 6 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7142702 (5 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Thyme et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
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 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Developmental and Hematopoietic Transcription Factors | Zinc finger C2H2 superfamily | Zinc finger C2H2-type |
|---|---|---|---|---|---|
| UniProtKB:E7FAL0 | InterPro | ||||
| UniProtKB:A0A2R8QLP7 | InterPro | 794 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
bcl11bb-201
(1)
|
Ensembl | 3,383 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers