AlphaFold predicted structure
BCL11B · Q9C0K0
Mean pLDDT
50.8/ 100
Low
894 residues
Confidence breakdown
- Very high(≥ 90)1%
- Confident(70–90)19%
- Low(50–70)12%
- Very low(< 50)68%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
BCL11B
Chr 14q32.2BCL11 transcription factor B
- Aliases:
- CTIP-2, CTIP2, hRIT1-alpha, SMARCM2
- MANE:
- ENST00000357195.8
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
COVID-19 research
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownRare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownPrimary immunodeficiency or monogenic inflammatory bowel disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
0.78immunodeficiency 49
0.67hereditary disease
0.52schizophrenia
0.48bipolar disorder
0.45mathematical ability
0.44obesity disorder
0.43smoking initiation
0.43Snoring
0.43autism spectrum disorder
0.42
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
B-cell lymphoma/leukemia 11B
Key regulator of both differentiation and survival of T-lymphocytes during thymocyte development in mammals. Essential in controlling the responsiveness of hematopoietic stem cells to chemotactic signals by modulating the expression of the receptors CCR7 and CCR9, which direct the movement of progenitor cells from the bone marrow to the thymus (PubMed:27959755). Is a regulator of IL2 promoter and enhances IL2 expression in activated CD4(+) T-lymphocytes (PubMed:16809611). Tumor-suppressor that represses transcription through direct, TFCOUP2-independent binding to a GC-rich response element (By similarity). May also function in the P53-signaling pathway (By similarity)
Diseases associated with BCL11B
Curated MONDO disease pages that list BCL11B among their top associated genes.