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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

Alias_namesEVI9
ecotropic viral integration site 9
B-cell CLL/lymphoma 11A (zinc finger protein)
Alias_symbol (synonym)BCL11A-XL
BCL11A-L
BCL11A-S
CTIP1
HBFQTL5
ZNF856
Other alias
HGNC (Hugo) BCL11A
LocusID (NCBI) 53335
Atlas_Id 391
Location 2p16.1  [Link to chromosome band 2p16]
Location_base_pair Starts at 60451167 and ends at 60553498 bp from pter ( according to hg19-Feb_2009)  [Mapping BCL11A.png]
 
  BCL11A (2p15) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2016)		BCL11A (2p16.1) / EPHA5 (4q13.1)BCL11A (2p16.1) / GRIP2 (3p25.1)BCL11A (2p16.1) / IGH (14q32.33)
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)IGH (14q32.33) / BCL11A (2p16.1)
IGHG1 (14q32.33) / 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)
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 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
  

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 ]
On line version : http://AtlasGeneticsOncology.org/Genes/BCL11AID391.html

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 4 ]
  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

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma

External links

Nomenclature
HGNC (Hugo)BCL11A   13221
Cards
AtlasBCL11AID391
Entrez_Gene (NCBI)BCL11A  53335  B-cell CLL/lymphoma 11A
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]  chr2:60451167-60553498 [Contig_View]  BCL11A [Vega]
ICGC DataPortalENSG00000119866
TCGA cBioPortalBCL11A
AceView (NCBI)BCL11A
Genatlas (Paris)BCL11A
WikiGenes53335
SOURCE (Princeton)BCL11A
Genetics Home Reference (NIH)BCL11A
Genomic and cartography
GoldenPath hg38 (UCSC)BCL11A  -     chr2:60451167-60553498 -  2p16.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BCL11A  -     2p16.1   [Description]    (hg19-Feb_2009)
EnsemblBCL11A - 2p16.1 [CytoView hg19]  BCL11A - 2p16.1 [CytoView hg38]
Mapping of homologs : NCBIBCL11A [Mapview hg19]  BCL11A [Mapview hg38]
OMIM606557   617101   
Gene and transcription
Genbank (Entrez)AB058712 AF080216 AJ404611 AJ404612 AJ404613
RefSeq transcript (Entrez)NM_018014 NM_022893 NM_138553 NM_138559
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BCL11A
Cluster EST : UnigeneHs.370549 [ NCBI ]
CGAP (NCI)Hs.370549
Alternative Splicing GalleryENSG00000119866
Gene ExpressionBCL11A [ NCBI-GEO ]   BCL11A [ EBI - ARRAY_EXPRESS ]   BCL11A [ SEEK ]   BCL11A [ MEM ]
Gene Expression Viewer (FireBrowse)BCL11A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)53335
GTEX Portal (Tissue expression)BCL11A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H165   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H165  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H165
Splice isoforms : SwissVarQ9H165
PhosPhoSitePlusQ9H165
Domaine pattern : Prosite (Expaxy)ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (EBI)Znf_C2H2    Znf_C2H2-like    Znf_C2H2/integrase_DNA-bd   
Domain families : Pfam (Sanger)zf-C2H2 (PF00096)   
Domain families : Pfam (NCBI)pfam00096   
Domain families : Smart (EMBL)ZnF_C2H2 (SM00355)  
Conserved Domain (NCBI)BCL11A
DMDM Disease mutations53335
Blocks (Seattle)BCL11A
SuperfamilyQ9H165
Human Protein AtlasENSG00000119866
Peptide AtlasQ9H165
HPRD05949
IPIIPI00300332   IPI00400867   IPI00400868   IPI00400870   IPI00400871   IPI00909297   IPI00400869   
Protein Interaction databases
DIP (DOE-UCLA)Q9H165
IntAct (EBI)Q9H165
FunCoupENSG00000119866
BioGRIDBCL11A
STRING (EMBL)BCL11A
ZODIACBCL11A
Ontologies - Pathways
QuickGOQ9H165
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  nucleus  nucleoplasm  cytoplasm  transcription, DNA-templated  signal transduction  positive regulation of gene expression  postsynaptic density  protein sumoylation  protein kinase binding  neurogenesis  metal ion binding  negative regulation of dendrite extension  negative regulation of neuron remodeling  cellular response to L-glutamate  negative regulation of dendrite development  negative regulation of branching morphogenesis of a nerve  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  nucleus  nucleoplasm  cytoplasm  transcription, DNA-templated  signal transduction  positive regulation of gene expression  postsynaptic density  protein sumoylation  protein kinase binding  neurogenesis  metal ion binding  negative regulation of dendrite extension  negative regulation of neuron remodeling  cellular response to L-glutamate  negative regulation of dendrite development  negative regulation of branching morphogenesis of a nerve  
NDEx NetworkBCL11A
Atlas of Cancer Signalling NetworkBCL11A
Wikipedia pathwaysBCL11A
Orthology - Evolution
OrthoDB53335
GeneTree (enSembl)ENSG00000119866
Phylogenetic Trees/Animal Genes : TreeFamBCL11A
HOVERGENQ9H165
HOGENOMQ9H165
Homologs : HomoloGeneBCL11A
Homology/Alignments : Family Browser (UCSC)BCL11A
Gene fusions - Rearrangements
Fusion : MitelmanBCL11A/EPHA5 [2p16.1/4q13.1]  
Fusion : MitelmanBCL11A/GRIP2 [2p16.1/3p25.1]  [t(2;3)(p16;p25)]  
Fusion : MitelmanEHBP1/BCL11A [2p15/2p16.1]  [t(2;2)(p15;p16)]  
Fusion : MitelmanIGH/BCL11A [14q32.33/2p16.1]  [t(2;14)(p16;q32)]  
Fusion : MitelmanPHACTR1/BCL11A [6p24.1/2p16.1]  [t(2;6)(p16;p24)]  
Fusion : MitelmanTIA1/BCL11A [2p13.3/2p16.1]  [t(2;2)(p13;p16)]  
Fusion: TCGAEHBP1 2p15 BCL11A 2p16.1 BRCA
Fusion: TCGAPHACTR1 6p24.1 BCL11A 2p16.1 LUAD
Fusion: TCGATIA1 2p13.3 BCL11A 2p16.1 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBCL11A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BCL11A
dbVarBCL11A
ClinVarBCL11A
1000_GenomesBCL11A 
Exome Variant ServerBCL11A
ExAC (Exome Aggregation Consortium)BCL11A (select the gene name)
Genetic variants : HAPMAP53335
Genomic Variants (DGV)BCL11A [DGVbeta]
DECIPHERBCL11A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBCL11A 
Mutations
ICGC Data PortalBCL11A 
TCGA Data PortalBCL11A 
Broad Tumor PortalBCL11A
OASIS PortalBCL11A [ Somatic mutations - Copy number]
Cancer Gene: CensusBCL11A 
Somatic Mutations in Cancer : COSMICBCL11A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBCL11A
intOGen PortalBCL11A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)The Globin Gene Server
BioMutasearch BCL11A
DgiDB (Drug Gene Interaction Database)BCL11A
DoCM (Curated mutations)BCL11A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BCL11A (select a term)
intoGenBCL11A
NCG5 (London)BCL11A
Cancer3DBCL11A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606557    617101   
Orphanet19638   
MedgenBCL11A
Genetic Testing Registry BCL11A
NextProtQ9H165 [Medical]
TSGene53335
GENETestsBCL11A
Target ValidationBCL11A
Huge Navigator BCL11A [HugePedia]
snp3D : Map Gene to Disease53335
BioCentury BCIQBCL11A
ClinGenBCL11A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD53335
Chemical/Pharm GKB GenePA25300
Clinical trialBCL11A
Miscellaneous
canSAR (ICR)BCL11A (select the gene name)
Probes
Litterature
PubMed108 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBCL11A
EVEXBCL11A
GoPubMedBCL11A
iHOPBCL11A
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 30 11:01:38 CEST 2017
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jlhuret@AtlasGeneticsOncology.org.