BCL11A

Description

The BCL11A (BCL11 transcription factor A) is a protein-coding gene located on chromosome 2.

BCL11A is a protein encoded by the BCL11A gene. It is a regulatory C2H2 type zinc-finger protein that can bind to DNA. BCL11A is highly expressed in several hematopoietic lineages and plays a role in the switch from γ- to β-globin expression during the fetal to adult erythropoiesis transition. BCL11A is also expressed in the brain, where it forms a protein complex with CASK to regulate axon outgrowth and branching. In the neocortex, BCL11A binds to the TBR1 regulatory region and inhibits the expression of TBR1. BCL11A is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. The Bcl11a 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.

BCL11A is a transcription factor that 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. It is involved in the regulation of the developmental switch from gamma- to beta-globin, likely through direct repression of HBG1, leading to indirect repression of fetal hemoglobin (HbF) levels. BCL11A is also involved in brain development and may play a role in hematopoiesis and lymphopoiesis. BCL11A interacts with a number of proteins, including NR2F1, PIAS3, NR2F2 and NR2F6, and its isoforms can form homodimers and heterodimers.

BCL11A is also known as CTIP1, DILOS, EVI9, HBFQTL5, SMARCM1, ZNF856.

Associated Diseases

• Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
• Intellectual developmental disorder with persistence of fetal hemoglobin