BCL11B

Description

The BCL11B (BCL11 transcription factor B) is a protein-coding gene located on chromosome 14.

BCL11B is a protein encoded by the BCL11B gene in humans. It is located on chromosome 14p32.2. The gene is related to BCL11A, which may be involved in B-cell malignancies. BCL11B is a C2H2-type zinc finger protein, and its specific function is not fully understood, but it may be involved in some malignancies. There are two alternatively spliced transcript variants, which encode distinct isoforms. Research suggests that BCL11B is crucial for ameloblasts (the cells that produce tooth enamel) to form and work properly. BCL11B has been shown to interact with COUP-TFI. Mutations in BCL11B can lead to Immunodeficiency 49 (OMIM #617237), a T-B+NK+ SCID characterized by a lack of T lymphocytes and impaired proliferative response. B cells and NK cells counts and functions are not impaired in this condition.

BCL11B is a key regulator of both differentiation and survival of T-lymphocytes during thymocyte development in mammals. It is essential in controlling the responsiveness of hematopoietic stem cells to chemotactic signals by modulating the expression of the receptors CCR7 and CCR9, which direct the movement of progenitor cells from the bone marrow to the thymus. BCL11B is also a regulator of the IL2 promoter and enhances IL2 expression in activated CD4(+) T-lymphocytes. It acts as a tumor-suppressor that represses transcription through direct, TFCOUP2-independent binding to a GC-rich response element. BCL11B may also function in the P53-signaling pathway.

BCL11B is also known as ATL1, ATL1-alpha, ATL1-beta, ATL1-delta, ATL1-gamma, CTIP-2, CTIP2, IDDFSTA, IMD49, RIT1, SMARCM2, ZNF856B, hRIT1-alpha.

Associated Diseases

• Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities
• Immunodeficiency 49