BCL11A
Chr 2ADBCL11 transcription factor A
Also known as: CTIP1, DILOS, EVI9, HBFQTL5, SMARCM1, ZNF856
The protein is a C2H2 zinc-finger transcription factor that regulates hematopoietic cell differentiation and is normally down-regulated during this process. Loss-of-function mutations cause Dias-Logan syndrome through an autosomal dominant inheritance pattern. The high pLI score (0.97) and low LOEUF score (0.32) indicate strong intolerance to loss-of-function variants, consistent with haploinsufficiency as the disease mechanism.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BCL11A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Hematopoietic Stem Cell BCL11A Enhancer Gene Editing for Severe β-Hemoglobinopathies
RECRUITINGOnline Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
RECRUITINGA Gene Transfer Study Inducing Fetal Hemoglobin in Sickle Cell Disease (GRASP, BMT CTN 2001)
ACTIVE NOT RECRUITINGSafety and Efficacy Evaluation of BRL-101 in Subjects With Transfusion-Dependent β-Thalassemia
ENROLLING BY INVITATIONGene Transfer for Sickle Cell Disease
ACTIVE NOT RECRUITINGUnraveling the Impact of Thalidomide at Diverse Doses in Transfusion Dependent Beta Thalassemia
RECRUITINGEvaluation of Efficacy and Safety of a Single Dose of CTX001 in Participants With Transfusion-Dependent β-Thalassemia and Severe Sickle Cell Disease
RECRUITINGClinical Study of BRL-101 in Severe SCD
ENROLLING BY INVITATIONEvaluation of Safety and Efficacy of CTX001 in Pediatric Participants With Severe Sickle Cell Disease (SCD)
ACTIVE NOT RECRUITINGLong-term Follow-up (LTFU) of Patients Treated With Genome-edited Autologous Hematopoietic Stem and Progenitor Cells (HSPC)
ACTIVE NOT RECRUITINGClinical Study of BRL-101 in the Treatment of Sickle Cell Disease
NOT YET RECRUITINGEvaluation of Safety and Efficacy of CTX001 in Pediatric Participants With Transfusion-Dependent β-Thalassemia (TDT)
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools