BCL11A (B-cell lymphoma/leukemia 11A)

2002-04-01 Jean-Loup Huret Affiliation

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC

BCL11A

LOCATION

2p16.1

IMAGE

LEGEND

BCL11A (2p15) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

LOCUSID

53335

ALIAS

BCL11A-L,BCL11A-S,BCL11A-XL,BCL11a-M,CTIP1,DILOS,EVI9,HBFQTL5,ZNF856

FUSION GENES

Show Gene Fusions

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

Proteins

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 name

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 gene

head to head translocation of BCL11A with IGH switch sequences on the der(2)

Oncogenesis

BCL11A is overexpressed

Bibliography

Pubmed ID	Last Year	Title	Authors
11830502	2002	Recurrent involvement of the REL and BCL11A loci in classical Hodgkin lymphoma.	Martín-Subero JI et al
11161790	2000	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 et al
11719382	2001	The BCL11 gene family: involvement of BCL11A in lymphoid malignancies.	Satterwhite E et al

Other Information

Locus ID:

NCBI: 53335
MIM: 606557
HGNC: 13221
Ensembl: ENSG00000119866

Variants:

dbSNP: 53335
ClinVar: 53335
TCGA: ENSG00000119866
COSMIC: BCL11A

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000119866	ENST00000335712	Q9H165
ENSG00000119866	ENST00000356842	Q9H165
ENSG00000119866	ENST00000356842	D9YZV9
ENSG00000119866	ENST00000358510	A0A2U3TZJ5
ENSG00000119866	ENST00000359629	Q9H165
ENSG00000119866	ENST00000409351	Q9H165
ENSG00000119866	ENST00000479026	A0A0J9YY13
ENSG00000119866	ENST00000489183	A0A2R8YDS7
ENSG00000119866	ENST00000489516	A0A0J9YXG2
ENSG00000119866	ENST00000631857	A0A0J9YYJ9
ENSG00000119866	ENST00000642180	A0A2R8YCR5
ENSG00000119866	ENST00000642384	Q9H165
ENSG00000119866	ENST00000642384	D6W5D9
ENSG00000119866	ENST00000642439	A0A2R8Y2E8
ENSG00000119866	ENST00000643004	A0A2R8YHH4
ENSG00000119866	ENST00000643222	A0A2R8Y7B0
ENSG00000119866	ENST00000643459	A0A2R8YDW6
ENSG00000119866	ENST00000643716	A0A2R8YEK1
ENSG00000119866	ENST00000646249	A0A2R8Y2E8
ENSG00000119866	ENST00000647469	A0A2R8YGT9
ENSG00000119866	ENST00000647472	A0A2R8Y7W4

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19020323	2008	Genotype score in addition to common risk factors for prediction of type 2 diabetes.	304
19056937	2008	Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A.	292
18245381	2008	Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.	208
18245381	2008	Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.	208
24115442	2013	An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level.	195
18667698	2008	DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.	175
17767159	2007	A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.	171
19657335	2009	Developmental and species-divergent globin switching are driven by BCL11A.	160
20395365	2010	Transcriptional silencing of {gamma}-globin by BCL11A involves long-range interactions and cooperation with SOX6.	147
20075150	2010	Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study.	95

Citation

Jean-Loup Huret

BCL11A (B-cell lymphoma/leukemia 11A)

Atlas Genet Cytogenet Oncol Haematol. 2002-04-01

Online version: http://atlasgeneticsoncology.org/gene/391/bcl11a