BCL11B

This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. Although the specific function of this gene has not been determined, the encoded protein is known to be a transcriptional repressor, and is regulated by the NURD nucleosome remodeling and histone deacetylase complex. Four alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Full Name

B CELL CLL/LYMPHOMA 11B

Function

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).

Biological Process

Alpha-beta T cell differentiation Source: Ensembl
Commitment of neuronal cell to specific neuron type in forebrain Source: Ensembl
Epithelial cell morphogenesis Source: Ensembl
Hematopoietic stem cell migration Source: UniProtKB
Keratinocyte development Source: Ensembl
Lymphoid lineage cell migration into thymus Source: UniProtKB
Negative regulation of apoptotic process Source: Ensembl
Negative regulation of cell population proliferation Source: Ensembl
Odontogenesis of dentin-containing tooth Source: Ensembl
Olfactory bulb axon guidance Source: Ensembl
Positive regulation of transcription by RNA polymerase II Source: MGI
Positive T cell selection Source: Ensembl
Post-embryonic camera-type eye development Source: Ensembl
Regulation of keratinocyte proliferation Source: Ensembl
Regulation of lipid metabolic process Source: Ensembl
Regulation of neuron differentiation Source: Ensembl
Regulation of transcription by RNA polymerase II Source: GO_Central
Striatal medium spiny neuron differentiation Source: Ensembl
T cell differentiation in thymus Source: Ensembl
T cell receptor V(D)J recombination Source: Ensembl
Thymus development Source: Ensembl

Cellular Location

Nucleus

Involvement in disease

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.
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.

PTM

Sumoylated with SUMO1.