ORF comprises 4 exons, exon 3 being alternately spliced, while the 3 part of exon 4 is untranslated. Alternative splice variants due to presence (var.1) or absence (var.2) of exon 3.

In a telomeric --> centromeric orientation.

894 amino acids, 95.5 kDa; contains 6 krueppel-like Zn-finger domains and a proline-rich region

Normal expression in thymus and brain; malignant expression in T-cell neoplasia and Ewing-family tumors.

Inner nuclear membrane; colocalization with heterochromatin protein (HP1) and histone deacetylase SIRT1 suggests role as transcriptional repressor.

Poorly defined; transcriptional repressor; developmentally regulates thymic differentiation and survival; inhibits HIV-1 Tat transactivation and repression of viral replication.

BCL11A on chromosome 2p13.

Unrecorded in humans. Biallelic mutation/deletion in mouse thymic lymphomas induced by ionizing radiation.

t(5;14) breakpoints are widely scattered over 1.2 Mbp downstream of BCL11B probably targeting distal enhancer(s) posited to lie in the "gene desert" separating BCL11b from VRK1. This region has been recently shown to carry multiple Dnase-I sensitive sites in T-cells which may represent a locus control region. The solitary AML breakpoint lies upstream of BCL11B and its significance has yet to be established.