BCL11A (B-cell lymphoma/leukemia 11A)

Identity

Hugo	BCL11A
Location	2p13-15
	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

	Nomenclature
Hugo	BCL11A
GDB	BCL11A
Entrez_Gene	BCL11A  53335  B-cell CLL/lymphoma 11A (zinc finger protein)
	Cards
Atlas	BCL11AID391
GeneCards	BCL11A
Ensembl	BCL11A [Search_View]   ENSG00000119866 [Gene_View]
Genatlas	BCL11A
GeneLynx	BCL11A
eGenome	BCL11A
euGene	53335
	Genomic and cartography
GoldenPath	BCL11A  -     chr2:60537833-60634137 -  2p16.1   [Description]    (hg18-Mar_2006)
Ensembl	BCL11A - 2p16.1 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	BCL11A
	Gene and transcription
Genbank	AB058712 [ ENTREZ ]
Genbank	AF080216 [ ENTREZ ]
Genbank	AJ404611 [ ENTREZ ]
Genbank	AJ404612 [ ENTREZ ]
Genbank	AJ404613 [ ENTREZ ]
RefSeq	NM_018014 [ SRS ]    NM_018014 [ ENTREZ ]
RefSeq	NM_022893 [ SRS ]    NM_022893 [ ENTREZ ]
RefSeq	NM_138553 [ SRS ]    NM_138553 [ ENTREZ ]
RefSeq	NM_138559 [ SRS ]    NM_138559 [ ENTREZ ]
RefSeq	AC_000045 [ SRS ]    AC_000045 [ ENTREZ ]
RefSeq	NC_000002 [ SRS ]    NC_000002 [ ENTREZ ]
RefSeq	NT_022184 [ SRS ]    NT_022184 [ ENTREZ ]
RefSeq	NW_927719 [ SRS ]    NW_927719 [ ENTREZ ]
AceView	BCL11A AceView - NCBI
Unigene	Hs.370549 [ SRS ]    Hs.370549 [ NCBI ]     HS370549 [ spliceNest ]
Fast-db	5536 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q9H165 [ SRS]    Q9H165 [ EXPASY ]     Q9H165 [ INTERPRO ]
Prosite	PS00028 ZINC_FINGER_C2H2_1 [ SRS ]    PS00028 ZINC_FINGER_C2H2_1 [ Expasy ]
Prosite	PS50157 ZINC_FINGER_C2H2_2 [ SRS ]    PS50157 ZINC_FINGER_C2H2_2 [ Expasy ]
Interpro	IPR007087 Znf_C2H2 [ SRS ]    IPR007087 Znf_C2H2 [ EBI ]
Interpro	IPR015880 Znf_C2H2-like [ SRS ]    IPR015880 Znf_C2H2-like [ EBI ]
Interpro	IPR013087 Znf_C2H2/integrase_DNA-bd [ SRS ]    IPR013087 Znf_C2H2/integrase_DNA-bd [ EBI ]
CluSTr	Q9H165
Pfam	PF00096 zf-C2H2 [ SRS ]    PF00096 zf-C2H2 [ Sanger ]    pfam00096 [ NCBI-CDD ]
Smart	SM00355 ZnF_C2H2 [EMBL]
Prodom	PD000003 Znf_C2H2[INRA-Toulouse]
Prodom	Q9H165 BC11A_HUMAN [ Domain structure ]   Q9H165 BC11A_HUMAN  [ sequences sharing at least 1 domain ]
Blocks	Q9H165
HPRD	05949
	Protein Interaction databases
DIP	Q9H165
IntAct	Q9H165
	Polymorphism : SNP, mutations, diseases
OMIM	142335;606557    [ map ]
GENECLINICS	142335;606557
SNP	BCL11A [dbSNP-NCBI]
SNP	NM_018014 [SNP-NCI]
SNP	NM_022893 [SNP-NCI]
SNP	NM_138553 [SNP-NCI]
SNP	NM_138559 [SNP-NCI]
SNP	BCL11A [GeneSNPs - Utah]  BCL11A] [HGBASE - SRS]
HAPMAP	BCL11A [HAPMAP]
COSMIC	BCL11A [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	BCL11A
	General knowledge
Family Browser	BCL11A [UCSC Family Browser]
SOURCE	NM_018014
SOURCE	NM_022893
SOURCE	NM_138553
SOURCE	NM_138559
SMD	Hs.370549
SAGE	Hs.370549
GO	nucleic acid binding [Amigo]  nucleic acid binding
GO	intracellular [Amigo]  intracellular
GO	nucleus [Amigo]  nucleus
GO	cytoplasm [Amigo]  cytoplasm
GO	transcription [Amigo]  transcription
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GO	zinc ion binding [Amigo]  zinc ion binding
GO	hemopoiesis [Amigo]  hemopoiesis
GO	metal ion binding [Amigo]  metal ion binding
PubGene	BCL11A
TreeFam	BCL11A
CTD	53335 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	Cancer Cytogenetics (Bari)
Probe	BCL11A Related clones (RZPD - Berlin)
	PubMed
PubMed	15 Pubmed reference(s) in LocusLink

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

Search in all EBI   NCBI

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 : Wed Jul 2 08:22:08 2008