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BCL11A (B-cell lymphoma/leukemia 11A)

Written2002-04Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

HGNC (Hugo) BCL11A
HGNC Alias symbBCL11A-XL
BCL11A-L
BCL11A-S
CTIP1
HBFQTL5
ZNF856
HGNC Previous nameEVI9
HGNC Previous nameecotropic viral integration site 9
 B-cell CLL/lymphoma 11A (zinc finger protein)
 B cell CLL/lymphoma 11A
 BCL11A, BAF complex component
LocusID (NCBI) 53335
Atlas_Id 391
Location 2p16.1  [Link to chromosome band 2p16]
Location_base_pair Starts at 60450520 and ends at 60553654 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping BCL11A.png]
 
  BCL11A (2p15) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BCL11A (2p16.1)::EDRF1 (10q26.13)BCL11A (2p16.1)::EPHA5 (4q13.1)BCL11A (2p16.1)::GRIP2 (3p25.1)
BCL11A (2p16.1)::MALT1 (18q21.32)BCL11A (2p16.1)::MECOM (3q26.2)BCL11A (2p16.1)::SLC35A1 (6q15)
E2F5 (8q21.2)::BCL11A (2p16.1)EHBP1 (2p15)::BCL11A (2p16.1)PHACTR1 (6p24.1)::BCL11A (2p16.1)
PHF8 (Xp11.22)::BCL11A (2p16.1)PRKCB (16p12.2)::BCL11A (2p16.1)RAB1A (2p14)::BCL11A (2p16.1)
SC5D (11q23.3)::BCL11A (2p16.1)STPG1 (1p36.11)::BCL11A (2p16.1)TIA1 (2p13.3)::BCL11A (2p16.1)

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

Note
  
Entity 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
  

Bibliography

Recurrent involvement of the REL and BCL11A loci in classical Hodgkin lymphoma.
Martín-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
 
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
 

Citation

This paper should be referenced as such :
Huret, JL
BCL11A (B-cell lymphoma/leukemia 11A)
Atlas Genet Cytogenet Oncol Haematol. 2002;6(3):199-200.
Free journal version : [ pdf ]   [ DOI ]


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 5 ]
  t(2;3)(p16;q26) BCL11A::MECOM
t(2;3)(p21;q26) THADA::MECOM
t(2;8)(p15;q24) BCL11A::MYC
t(2;14)(p13-16;q32) IGH::BCL11A
t(2;3)(p16;p25) BCL11A::GRIP2


External links

Nomenclature
HGNC (Hugo)BCL11A   13221
Cards
AtlasBCL11AID391
Entrez_Gene (NCBI)BCL11A    BAF chromatin remodeling complex subunit BCL11A
AliasesBCL11A-L; BCL11A-S; BCL11A-XL; BCL11a-M; 
CTIP1; DILOS; EVI9; HBFQTL5; ZNF856
GeneCards (Weizmann)BCL11A
Ensembl hg19 (Hinxton)ENSG00000119866 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000119866 [Gene_View]  ENSG00000119866 [Sequence]  chr2:60450520-60553654 [Contig_View]  BCL11A [Vega]
ICGC DataPortalENSG00000119866
TCGA cBioPortalBCL11A
AceView (NCBI)BCL11A
Genatlas (Paris)BCL11A
SOURCE (Princeton)BCL11A
Genetics Home Reference (NIH)BCL11A
Genomic and cartography
GoldenPath hg38 (UCSC)BCL11A  -     chr2:60450520-60553654 -  2p16.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BCL11A  -     2p16.1   [Description]    (hg19-Feb_2009)
GoldenPathBCL11A - 2p16.1 [CytoView hg19]  BCL11A - 2p16.1 [CytoView hg38]
ImmunoBaseENSG00000119866
Genome Data Viewer NCBIBCL11A [Mapview hg19]  
OMIM606557   617101   
Gene and transcription
Genbank (Entrez)AB058712 AF080216 AJ404611 AJ404612 AJ404613
RefSeq transcript (Entrez)NM_001363864 NM_001365609 NM_018014 NM_022893 NM_138553 NM_138559
Consensus coding sequences : CCDS (NCBI)BCL11A
Gene ExpressionBCL11A [ NCBI-GEO ]   BCL11A [ EBI - ARRAY_EXPRESS ]   BCL11A [ SEEK ]   BCL11A [ MEM ]
Gene Expression Viewer (FireBrowse)BCL11A [ Firebrowse - Broad ]
GenevisibleExpression of BCL11A in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)53335
GTEX Portal (Tissue expression)BCL11A
Human Protein AtlasENSG00000119866-BCL11A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)BCL11A
Human Protein Atlas [tissue]ENSG00000119866-BCL11A [tissue]
HPRD05949
Protein Interaction databases
BioGRIDBCL11A
STRING (EMBL)BCL11A
ZODIACBCL11A
Ontologies - Pathways
Litterature
PubMed158 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXBCL11A
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Oct 8 21:13:14 CEST 2021

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