Species Human Entrez 53335 | Human Mouse Ensembl ENSG00000119866 | |
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Aliases BCL11A, BCL11A-L, BCL11A-S, BCL11A-XL, BCL11a-M, CTIP1, EVI9, HBFQTL5, ZNF856, B-cell CLL/lymphoma 11A External IDs MGI: 106190 HomoloGene: 11284 GeneCards: BCL11A | ||
Gene music using protein sequence of bcl11a b cell cll lymphoma 11a zinc finger protein
B-cell lymphoma/leukemia 11A is a protein that in humans is encoded by the BCL11A gene.
Contents
Function
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. Five alternatively spliced transcript variants of this gene, which encode distinct isoforms, have been reported.
In addition to the functions described above, BCL11A has been found to play a role in the suppression of fetal hemoglobin production. Therapeutic strategies aimed at increasing fetal globin production in diseases such as beta thalassemia and sickle cell anemia by inhibiting BCL11A are currently being explored.
Interactions
BCL11A has been shown to interact with COUP-TFI.