GeneID: 15


Common Name: BCL11A Type: Gene
Chromosome: 2 (NC_000002.12) Locus: NG_011968.1 (BCL11A)
HUGO Symbol: BCL11A Full Name: B-cell CLL/lymphoma 11A
Exons: 5 Introns: 4

This gene encodes a C2H2 type zinc-finger protein. During haematopoietic cell differentiation, this gene is downregulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. Abundant expression of full-length forms of BCL11A is developmentally restricted to adult erythroid cells. Downregulation of BCL11A expression in primary adult erythroid cells led to robust HbF expression. Consistent with its direct role in globin gene regulation, BCL11A occupies several discrete sites in the beta-globin gene cluster. Genetic variation in BCL11A gene on chromosome 2p15 underlies the fetal haemoglobin quantitative trait locus (QTL). The 2p15 QTL accounted for 15.1% of the trait variance. The strongest associations were in a region spanning 14 kb in the second intron of the BCL11A gene. It is associated with quantitative variation in the production of F cells, which are erythrocytes containing measurable amounts of fetal haemoglobin (HbF).

Synonyms: BCL11A-L , BCL11A-S , BCL11A-XL , CTIP1 , HBFQTL5 , ZNF856 , EVI9


Sequence Viewer

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Publications / Origin

  1. 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, The BCL11 gene family: involvement of BCL11A in lymphoid malignancies., Blood , 98(12), 3413-20, 2001 PubMed
  2. Menzel S, Garner C, Gut I, Matsuda F, Yamaguchi M, Heath S, Foglio M, Zelenika D, Boland A, Rooks H, Best S, Spector TD, Farrall M, Lathrop M, Thein SL, A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15., Nat. Genet. , 39(10), 1197-9, 2007 PubMed
  3. 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, 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, 2008 PubMed
  4. Sankaran VG, Menne TF, Xu J, Akie TE, Lettre G, Van Handel B, Mikkola HK, Hirschhorn JN, Cantor AB, Orkin SH, Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A., Science , 322(5909), 1839-42, 2008 PubMed
Created on 2014-04-01 14:19:10, Last reviewed on 2016-04-28 11:38:47 (Show full history)

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