BCL11B

Key regulator of both differentiation and survival of T-lymphocytes during thymocyte development in mammals. 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 (PubMed:27959755). Is a regulator of IL2 promoter and enhances IL2 expression in activated CD4(+) T-lymphocytes (PubMed:16809611). Tumor-suppressor that represses transcription through direct, TFCOUP2-independent binding to a GC-rich response element (By similarity). May also function in the P53-signaling pathway (By similarity).

Immunodeficiency 49

IMD49

A form of severe combined immunodeficiency characterized by severe T-cell lymphopenia, no detectable T-cell receptor excision circles, no naive helper CD4+ T-cells, and impaired T-cell proliferative response. In addition to primary immunodeficiency, affected individuals manifest multiple abnormal systemic features, including severe delayed psychomotor development, intellectual disability, spastic quadriplegia, and craniofacial abnormalities.

None

The disease is caused by variants affecting the gene represented in this entry.

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

IDDSFTA

An autosomal dominant developmental disorder with onset in first months of life, and characterized by delayed psychomotor development with intellectual disability and speech delay. Additional features include autistic features, attention deficit-hyperactivity disorder, anxiety, and other behavioral abnormalities. Some patients suffer from recurrent infections, asthma and allergies.

None

The disease is caused by variants affecting the gene represented in this entry.

Sumoylated with SUMO1.

Highly expressed in brain and in malignant T-cell lines derived from patients with adult T-cell leukemia/lymphoma.

• Nucleus

CTIP2, RIT1, BCL11B, B-cell lymphoma/leukemia 11B, BCL-11B, B-cell CLL/lymphoma 11B, COUP-TF-interacting protein 2, Radiation-induced tumor suppressor gene 1 protein, hRit1

• entrezGene:64919
• omim:606558
• swissprot:Q9C0K0

Proteins

Neuroscience

95519Da