Atlas of Genetics and Cytogenetics in Oncology and Haematology
BCL11A (B-cell lymphoma/leukemia 11A)
| Identity |
| HGNC (Hugo) | BCL11A |
| Location | 2p13-15 |
| Location_base_pair | Starts at 60531806 and ends at 60634137 bp from pter ( according to hg18-Mar_2006) [Mapping] |
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| BCL11A (2p15) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it | |
| DNA/RNA |
 | |
| Description | 5 exons, with a CpG island in 5' of the gene |
| Transcription | the major transcript is the longest transcript: (5941 bp); other transcripts of 3.8 kb and 1.5 kb; alternate splices in exon 4 |
| Protein |
 | |
| Description | 835 amino acids, predicted molecular weight of 91.3 kDa for the longest isoform, called BCL11AXL, with 6 Kruppel C2H2 zinc fingers, a prolin rich domain, and an acidic domain; 773 and 243 amino acids for the BCL11AL and the BCL11AS respectively |
| Expression | expressed in the fetal brain; low level or undetectable expression in most adult tissues, apart from lymph nodes, thymus, and bone marrow. |
| Function | contains DNA binding motifs (Zn fingers) |
| Homology | Evi9 (mouse); human BCL11B (14q32.1) |
| Implicated in |
| Entity | t(2;14)(p13;q32) in B-cell malignancies |
| Disease | chronic lymphocytic leukemia / immunocytoma aggressive disease; possibly also other t(2;14)(p13;q32) in other B-ell diseases (acute lymphocytic leukemia, myeloma, ...) involve the same genes, but probably not Hodgkin disease cases with 2p amplification |
| Cytogenetics | most often the sole anomaly |
| Hybrid/Mutated Gene | head to head translocation of BCL11A with IGH switch sequences on the der(2) |
| Oncogenesis | BCL11A is overexpressed |
| External links |
| Bibliography |
| 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. |
| Saiki Y, Yamazaki Y, Yoshida M, Katoh O, Nakamura T |
| Genomics. 2000 ; 70 (3) : 387-391. |
| PMID 11161790 |
| The BCL11 gene family: involvement of BCL11A in lymphoid malignancies. |
| 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 |
| Blood. 2001 ; 98 (12) : 3413-3420. |
| PMID 11719382 |
| Recurrent involvement of the REL and BCL11A loci in classical Hodgkin lymphoma. |
| Martˆ‚n-Subero JI, Gesk S, Harder L, Sonoki T, Tucker PW, Schlegelberger B, Grote W, Novo FJ, Calasanz MJ, Hansmann ML, Dyer MJ, Siebert R |
| Blood. 2002 ; 99 (4) : 1474-1477. |
| PMID 11830502 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 04-2002 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . BCL11A (B-cell lymphoma/leukemia 11A). Atlas Genet Cytogenet Oncol Haematol. April 2002 . URL : http://AtlasGeneticsOncology.org/Genes/BCL11AID391.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Feb 27 10:48:18 CET 2010 |
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