|B-cell CLL/lymphoma 11A (zinc finger protein)|
|Symbols||; BCL11A-L; BCL11A-S; BCL11A-XL; BCL11a-M; CTIP1; EVI9; HBFQTL5; ZNF856|
|RNA expression pattern|
This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Five alternatively spliced transcript variants of this gene, which encode distinct isoforms, have been reported. 
In addition to the functions described above, BCL11A has been found to play a role in the suppression of fetal hemoglobin production. Therapeutic strategies aimed at increasing fetal globin production in diseases such as beta thalassemia and sickle cell anemia by inhibiting BCL11A are currently being explored.
- Satterwhite E, Sonoki T, Willis TG, Harder L, Nowak R, Arriola EL, Liu H, Price HP, Gesk S, Steinemann D, Schlegelberger B, Oscier DG, Siebert R, Tucker PW, Dyer MJ (November 2001). "The BCL11 gene family: involvement of BCL11A in lymphoid malignancies". Blood 98 (12): 3413–20.
- Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, Crisponi L, Naitza S, Asunis I, Deiana M, Nagaraja R, Perseu L, Satta S, Cipollina MD, Sollaino C, Moi P, Hirschhorn JN, Orkin SH, Abecasis GR, Schlessinger D, Cao A (February 2008). "Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia". Proc Natl Acad Sci U S A 105 (5): 1620–5.
- "Entrez Gene: BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)".
- Avram D, Fields A, Pretty On Top K, Nevrivy DJ, Ishmael JE, Leid M (2000). "Isolation of a novel family of C(2)H(2) zinc finger proteins implicated in transcriptional repression mediated by chicken ovalbumin upstream promoter transcription factor (COUP-TF) orphan nuclear receptors". J. Biol. Chem. 275 (14): 10315–22.
- "Toward a complete human genome sequence.". Genome Res. 8 (11): 1097–108. 1999.
- Avram D, Fields A, Pretty On Top K, et al. (2000). "Isolation of a novel family of C(2)H(2) zinc finger proteins implicated in transcriptional repression mediated by chicken ovalbumin upstream promoter transcription factor (COUP-TF) orphan nuclear receptors.". J. Biol. Chem. 275 (14): 10315–22.
- Nakamura T, Yamazaki Y, Saiki Y, et al. (2000). "Evi9 encodes a novel zinc finger protein that physically interacts with BCL6, a known human B-cell proto-oncogene product.". Mol. Cell. Biol. 20 (9): 3178–86.
- Saiki Y, Yamazaki Y, Yoshida M, et al. (2001). "Human EVI9, a homologue of the mouse myeloid leukemia gene, is expressed in the hematopoietic progenitors and down-regulated during myeloid differentiation of HL60 cells.". Genomics 70 (3): 387–91.
- Nagase T, Nakayama M, Nakajima D, et al. (2001). "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.". DNA Res. 8 (2): 85–95.
- Martín-Subero JI, Gesk S, Harder L, et al. (2002). "Recurrent involvement of the REL and BCL11A loci in classical Hodgkin lymphoma.". Blood 99 (4): 1474–7.
- Küppers R, Sonoki T, Satterwhite E, et al. (2002). "Lack of somatic hypermutation of IG V(H) genes in lymphoid malignancies with t(2;14)(p13;q32) translocation involving the BCL11A gene.". Leukemia 16 (5): 937–9.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7.
- Senawong T, Peterson VJ, Leid M (2005). "BCL11A-dependent recruitment of SIRT1 to a promoter template in mammalian cells results in histone deacetylation and transcriptional repression.". Arch. Biochem. Biophys. 434 (2): 316–25.
- Liu H, Ippolito GC, Wall JK, et al. (2006). "Functional studies of BCL11A: characterization of the conserved BCL11A-XL splice variant and its interaction with BCL6 in nuclear paraspeckles of germinal center B cells.". Mol. Cancer 5: 18.
- Weniger MA, Pulford K, Gesk S, et al. (2006). "Gains of the proto-oncogene BCL11A and nuclear accumulation of BCL11A(XL) protein are frequent in primary mediastinal B-cell lymphoma.". Leukemia 20 (10): 1880–2.
- Szafranski K, Schindler S, Taudien S, et al. (2007). "Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.". Genome Biology 8 (8): R154.
- BCL11A protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
- FactorBook BCL11A