BCL11A
Chr 2ADBCL11 transcription factor A
Also known as: CTIP1, DILOS, EVI9, HBFQTL5, SMARCM1, ZNF856
This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Primary Disease Associations & Inheritance
Clinical highlights
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
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.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Safety and Efficacy Evaluation of BRL-101 in Subjects With Transfusion-Dependent β-Thalassemia
ACTIVE NOT RECRUITINGEvaluation of Safety and Efficacy of CTX001 in Pediatric Participants With Transfusion-Dependent β-Thalassemia (TDT)
ACTIVE NOT RECRUITINGGene Transfer for Sickle Cell Disease
ACTIVE NOT RECRUITINGEvaluation of Efficacy and Safety of a Single Dose of CTX001 in Participants With Transfusion-Dependent β-Thalassemia and Severe Sickle Cell Disease
RECRUITINGLong-term Follow-up (LTFU) of Patients Treated With Genome-edited Autologous Hematopoietic Stem and Progenitor Cells (HSPC)
ACTIVE NOT RECRUITINGUnraveling the Impact of Thalidomide at Diverse Doses in Transfusion Dependent Beta Thalassemia
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 RECRUITINGHematopoietic Stem Cell BCL11A Enhancer Gene Editing for Severe β-Hemoglobinopathies
RECRUITINGHematopoietic Stem Cell BCL11A Enhancer Gene Editing for Sickle Cell Disease
NOT YET RECRUITINGEvaluation of Safety and Efficacy of CTX001 in Pediatric Participants With Severe Sickle Cell Disease (SCD)
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools