This gene encodes a C2H2-typezinc finger protein and is closely related toBCL11A, a gene whose translocation may be associated with B-cell malignancies. The specific function of this gene has not yet been determined, but it could also be involved in some malignancies. Two alternatively spliced transcript variants, which encode distinct isoforms, have been reported.[7]
Research suggests that BCL11B is crucial forameloblasts (the cells that producetooth enamel) to form and work properly.[10]
Amouse model based study showed, that Bcl11b also plays an important role in pathogenesis ofinflammatory bowel disease. Bcl11b gene knock-out in certainT cell population led to development ofIBD. The mechanisms behind are supposed to be reduced suppressor activity ofT regulatory cells and changes incytokine environment. Bcl11b is suspected to interact withFoxp3 andIL10gene promoters and thus impair its suppressive function in theintestines.[15]
^abWakabayashi Y, Inoue J, Takahashi Y, Matsuki A, Kosugi-Okano H, Shinbo T, et al. (February 2003). "Homozygous deletions and point mutations of the Rit1/Bcl11b gene in gamma-ray induced mouse thymic lymphomas".Biochemical and Biophysical Research Communications.301 (2):598–603.doi:10.1016/S0006-291X(02)03069-3.PMID12565905.
Wakabayashi Y, Inoue J, Takahashi Y, Matsuki A, Kosugi-Okano H, Shinbo T, et al. (February 2003). "Homozygous deletions and point mutations of the Rit1/Bcl11b gene in gamma-ray induced mouse thymic lymphomas".Biochemical and Biophysical Research Communications.301 (2):598–603.doi:10.1016/S0006-291X(02)03069-3.PMID12565905.
Bezrookove V, van Zelderen-Bhola SL, Brink A, Szuhai K, Raap AK, Barge R, et al. (February 2004). "A novel t(6;14)(q25-q27;q32) in acute myelocytic leukemia involves the BCL11B gene".Cancer Genetics and Cytogenetics.149 (1):72–6.doi:10.1016/S0165-4608(03)00302-9.PMID15104287.
MacLeod RA, Nagel S, Drexler HG (August 2004). "BCL11B rearrangements probably target T-cell neoplasia rather than acute myelocytic leukemia".Cancer Genetics and Cytogenetics.153 (1):88–9.doi:10.1016/j.cancergencyto.2004.02.020.PMID15325104.
Przybylski GK, Dik WA, Wanzeck J, Grabarczyk P, Majunke S, Martin-Subero JI, et al. (February 2005). "Disruption of the BCL11B gene through inv(14)(q11.2q32.31) results in the expression of BCL11B-TRDC fusion transcripts and is associated with the absence of wild-type BCL11B transcripts in T-ALL".Leukemia.19 (2):201–8.doi:10.1038/sj.leu.2403619.PMID15668700.S2CID27146016.
Cismasiu VB, Adamo K, Gecewicz J, Duque J, Lin Q, Avram D (October 2005). "BCL11B functionally associates with the NuRD complex in T lymphocytes to repress targeted promoter".Oncogene.24 (45):6753–64.doi:10.1038/sj.onc.1208904.PMID16091750.S2CID14198939.
Kamimura K, Mishima Y, Obata M, Endo T, Aoyagi Y, Kominami R (August 2007). "Lack of Bcl11b tumor suppressor results in vulnerability to DNA replication stress and damages".Oncogene.26 (40):5840–50.doi:10.1038/sj.onc.1210388.PMID17369851.S2CID29677572.
