BCL9 (B-cell CLL/lymphoma 9)

2003-02-01   Jean-Loup Huret , Sylvie Senon 

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

Identity

HGNC
LOCATION
1q21.2
LOCUSID
ALIAS
LGS
FUSION GENES

DNA/RNA

Description

10 exons spanning 85 kb.

Transcription

transcripts of 1.6, 4.2, and 6.3 kb.

Proteins

Description

1426 amino acids, 149 kDa.

Expression

wide

Function

Homology

drosophila segment polarity gene legless, encoding wingless-armadillo (WNT - beta-catenin) signaling molecule

Implicated in

Entity name
t(1;14)(q21;q32) and t(1;22)(q21;q11)
Disease
acute lymphoblastic leukemia and non Hodgkin lymphoma
Hybrid gene
BCL9 is juxtaposed either with the immunoglobulin heavy chain locus IgH (14q32) or the lambda light-chain locus Igl (22q11)

Bibliography

Pubmed IDLast YearTitleAuthors
119554462002Wnt/wingless signaling requires BCL9/legless-mediated recruitment of pygopus to the nuclear beta-catenin-TCF complex.Kramps T et al
94906691998Molecular cloning of translocation t(1;14)(q21;q32) defines a novel gene (BCL9) at chromosome 1q21.Willis TG et al

Other Information

Locus ID:

NCBI: 607
MIM: 602597
HGNC: 1008
Ensembl: ENSG00000116128

Variants:

dbSNP: 607
ClinVar: 607
TCGA: ENSG00000116128
COSMIC: BCL9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116128ENST00000234739O00512
ENSG00000116128ENST00000234739A0A024QYY4

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by WntREACTOMER-HSA-195721
TCF dependent signaling in response to WNTREACTOMER-HSA-201681
Formation of the beta-catenin:TCF transactivating complexREACTOMER-HSA-201722
Deactivation of the beta-catenin transactivating complexREACTOMER-HSA-3769402

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
184987522008Decoding of methylated histone H3 tail by the Pygo-BCL9 Wnt signaling complex.84
229146232012Targeted disruption of the BCL9/β-catenin complex inhibits oncogenic Wnt signaling.80
197380612009BCL9 promotes tumor progression by conferring enhanced proliferative, metastatic, and angiogenic properties to cancer cells.70
170524622006Crystal structure of a beta-catenin/BCL9/Tcf4 complex.67
245991342014miR-30-5p functions as a tumor suppressor and novel therapeutic tool by targeting the oncogenic Wnt/β-catenin/BCL9 pathway.67
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
244190842014LEF1 and B9L shield β-catenin from inactivation by Axin, desensitizing colorectal cancer cells to tankyrase inhibitors.36
220246892011MicroRNA-30c-2* expressed in ovarian cancer cells suppresses growth factor-induced cellular proliferation and downregulates the oncogene BCL9.24
183470632008Cell-type-specific function of BCL9 involves a transcriptional activation domain that synergizes with beta-catenin.21

Citation

Jean-Loup Huret ; Sylvie Senon

BCL9 (B-cell CLL/lymphoma 9)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/466/bcl9