AlphaFold predicted structure
BCL11A · Q9H165
Mean pLDDT
52.3/ 100
Low
835 residues
Confidence breakdown
- Very high(≥ 90)1%
- Confident(70–90)22%
- Low(50–70)11%
- Very low(< 50)66%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
BCL11A
Chr 2p16.1BCL11 transcription factor A
- Aliases:
- BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5
- MANE:
- ENST00000642384.2
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCerebellar hypoplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
Dias-Logan syndrome
0.78Intellectual disability
0.66sickle cell disease
0.53hereditary disease
0.51cancer
0.51benign prostatic hyperplasia
0.49intelligence
0.49schizophrenia
0.47COVID-19
0.45Beta-thalassemia
0.44
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
BCL11 transcription factor A
Transcription factor (PubMed:16704730, PubMed:29606353). Associated with the BAF SWI/SNF chromatin remodeling complex (PubMed:23644491, PubMed:39607926). Binds to the 5'-TGACCA-3' sequence motif in regulatory regions of target genes, including a distal promoter of the HBG1 hemoglobin subunit gamma-1 gene (PubMed:29606353, PubMed:39423807). Involved in regulation of the developmental switch from gamma- to beta-globin, probably via direct repression of HBG1; hence indirectly repressing fetal hemoglobin (HbF) level (PubMed:26375765, PubMed:29606353, PubMed:39423807, PubMed:39607926). Involved in brain development (PubMed:27453576). May play a role in hematopoiesis (By similarity). Essential factor in lymphopoiesis required for B-cell formation in fetal liver (By similarity). May function as a modulator of the transcriptional repression activity of NR2F2 (By similarity)
Diseases associated with BCL11A
Curated MONDO disease pages that list BCL11A among their top associated genes.