BCL11A (B-cell lymphoma/leukemia 11A)
2002-04-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
2p16.1
IMAGE
LEGEND
BCL11A (2p15) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
ALIAS
BCL11A-L,BCL11A-S,BCL11A-XL,BCL11a-M,CTIP1,DILOS,EVI9,HBFQTL5,ZNF856
FUSION GENES
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
Article 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
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38364109 | 2024 | let-7 miRNAs repress HIC2 to regulate BCL11A transcription and hemoglobin switching. | 1 |
| 38939975 | 2024 | Genotyping the BCL11A Single Nucleotide Polymorphism and Associated Levels of Fetal Hemoglobin in Mauritanian Sickle Cell Patients. | 0 |
| 38364109 | 2024 | let-7 miRNAs repress HIC2 to regulate BCL11A transcription and hemoglobin switching. | 1 |
| 38939975 | 2024 | Genotyping the BCL11A Single Nucleotide Polymorphism and Associated Levels of Fetal Hemoglobin in Mauritanian Sickle Cell Patients. | 0 |
| 36584999 | 2023 | [Genetic analysis of a family with BCL11A-related intellectual disability]. | 0 |
| 37148312 | 2023 | RNA-seq analysis reveals candidate genes associated with proliferation, invasion, and migration in BCL11A knockdown B-NHL cell lines. | 0 |
| 37895276 | 2023 | Effects of Mithramycin on BCL11A Gene Expression and on the Interaction of the BCL11A Transcriptional Complex to γ-Globin Gene Promoter Sequences. | 0 |
| 36584999 | 2023 | [Genetic analysis of a family with BCL11A-related intellectual disability]. | 0 |
| 37148312 | 2023 | RNA-seq analysis reveals candidate genes associated with proliferation, invasion, and migration in BCL11A knockdown B-NHL cell lines. | 0 |
| 37895276 | 2023 | Effects of Mithramycin on BCL11A Gene Expression and on the Interaction of the BCL11A Transcriptional Complex to γ-Globin Gene Promoter Sequences. | 0 |
| 34706496 | 2022 | Genetic modifiers of fetal hemoglobin affect the course of sickle cell disease in patients treated with hydroxyurea. | 7 |
| 34714913 | 2022 | BCL11A promotes myeloid leukemogenesis by repressing PU.1 target genes. | 9 |
| 35718959 | 2022 | Bcl11a and the Correlated Key Genes Ascribable to Globin Switching: An In-silico Study. | 1 |
| 35739577 | 2022 | Metabolic sensor O-GlcNAcylation regulates erythroid differentiation and globin production via BCL11A. | 4 |
| 35856171 | 2022 | Three 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/bcl11a
