BCL11A (B-cell lymphoma/leukemia 11A)

2002-04-01   Jean-Loup Huret  

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

Identity

HGNC
BCL11A
LOCATION
2p16.1
IMAGE
Atlas 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

Atlas Image

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

Atlas Image

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

Article Bibliography

Pubmed IDLast YearTitleAuthors
118305022002Recurrent involvement of the REL and BCL11A loci in classical Hodgkin lymphoma.Martín-Subero JI et al
111617902000Human 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
117193822001The 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 IDTranscript IDUniprot
ENSG00000119866ENST00000335712Q9H165
ENSG00000119866ENST00000356842Q9H165
ENSG00000119866ENST00000356842D9YZV9
ENSG00000119866ENST00000358510A0A2U3TZJ5
ENSG00000119866ENST00000359629Q9H165
ENSG00000119866ENST00000409351Q9H165
ENSG00000119866ENST00000479026A0A0J9YY13
ENSG00000119866ENST00000489183A0A2R8YDS7
ENSG00000119866ENST00000489516A0A0J9YXG2
ENSG00000119866ENST00000631857A0A0J9YYJ9
ENSG00000119866ENST00000642180A0A2R8YCR5
ENSG00000119866ENST00000642384Q9H165
ENSG00000119866ENST00000642384D6W5D9
ENSG00000119866ENST00000642439A0A2R8Y2E8
ENSG00000119866ENST00000643004A0A2R8YHH4
ENSG00000119866ENST00000643222A0A2R8Y7B0
ENSG00000119866ENST00000643459A0A2R8YDW6
ENSG00000119866ENST00000643716A0A2R8YEK1
ENSG00000119866ENST00000646249A0A2R8Y2E8
ENSG00000119866ENST00000647469A0A2R8YGT9
ENSG00000119866ENST00000647472A0A2R8Y7W4

Expression (GTEx)

0
5
10
15
20
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383641092024let-7 miRNAs repress HIC2 to regulate BCL11A transcription and hemoglobin switching.1
389399752024Genotyping the BCL11A Single Nucleotide Polymorphism and Associated Levels of Fetal Hemoglobin in Mauritanian Sickle Cell Patients.0
383641092024let-7 miRNAs repress HIC2 to regulate BCL11A transcription and hemoglobin switching.1
389399752024Genotyping the BCL11A Single Nucleotide Polymorphism and Associated Levels of Fetal Hemoglobin in Mauritanian Sickle Cell Patients.0
365849992023[Genetic analysis of a family with BCL11A-related intellectual disability].0
371483122023RNA-seq analysis reveals candidate genes associated with proliferation, invasion, and migration in BCL11A knockdown B-NHL cell lines.0
378952762023Effects of Mithramycin on BCL11A Gene Expression and on the Interaction of the BCL11A Transcriptional Complex to γ-Globin Gene Promoter Sequences.0
365849992023[Genetic analysis of a family with BCL11A-related intellectual disability].0
371483122023RNA-seq analysis reveals candidate genes associated with proliferation, invasion, and migration in BCL11A knockdown B-NHL cell lines.0
378952762023Effects of Mithramycin on BCL11A Gene Expression and on the Interaction of the BCL11A Transcriptional Complex to γ-Globin Gene Promoter Sequences.0
347064962022Genetic modifiers of fetal hemoglobin affect the course of sickle cell disease in patients treated with hydroxyurea.7
347149132022BCL11A promotes myeloid leukemogenesis by repressing PU.1 target genes.9
357189592022Bcl11a and the Correlated Key Genes Ascribable to Globin Switching: An In-silico Study.1
357395772022Metabolic sensor O-GlcNAcylation regulates erythroid differentiation and globin production via BCL11A.4
358561712022Three children with different de novo BCL11A variants and diverse developmental phenotypes, but shared global motor discoordination and apraxic speech: Evidence for a functional gene network influencing the developing cerebellum and motor and auditory cortices.1

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/teaching-explorer/favicon/gene-explorer/