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
BCL9
LOCATION
1q21.2
LOCUSID
607
ALIAS
LGS
FUSION GENES
Show Gene Fusions

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

Binds to beta-catenin required for Wnt signal transduction

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
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

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
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
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
368033622023Prognostic and survival impact of BCL9 and RPS6KB1 copy number variation detected from circulating free DNA in hepatocellular carcinoma.1
368033622023Prognostic and survival impact of BCL9 and RPS6KB1 copy number variation detected from circulating free DNA in hepatocellular carcinoma.1
350275862022Hypoxia-inducible factor 1α induces osteo/odontoblast differentiation of human dental pulp stem cells via Wnt/β-catenin transcriptional cofactor BCL9.6
350275862022Hypoxia-inducible factor 1α induces osteo/odontoblast differentiation of human dental pulp stem cells via Wnt/β-catenin transcriptional cofactor BCL9.6
337674382021BCL9/BCL9L promotes tumorigenicity through immune-dependent and independent mechanisms in triple negative breast cancer.15
338380162021miR-140-3p inhibits colorectal cancer progression and its liver metastasis by targeting BCL9 and BCL2.24
338625572021Evidence for frequent concurrent DCUN1D1, FGFR1, BCL9 gene copy number amplification in squamous cell lung cancer.4
339743522021LncRNA NCK1-AS1 exerts oncogenic property in gastric cancer by targeting the miR-22-3p/BCL9 axis to activate the Wnt/β-catenin signaling.9
345451872021The interactions of Bcl9/Bcl9L with β-catenin and Pygopus promote breast cancer growth, invasion, and metastasis.12
337674382021BCL9/BCL9L promotes tumorigenicity through immune-dependent and independent mechanisms in triple negative breast cancer.15
338380162021miR-140-3p inhibits colorectal cancer progression and its liver metastasis by targeting BCL9 and BCL2.24
338625572021Evidence for frequent concurrent DCUN1D1, FGFR1, BCL9 gene copy number amplification in squamous cell lung cancer.4
339743522021LncRNA NCK1-AS1 exerts oncogenic property in gastric cancer by targeting the miR-22-3p/BCL9 axis to activate the Wnt/β-catenin signaling.9
345451872021The interactions of Bcl9/Bcl9L with β-catenin and Pygopus promote breast cancer growth, invasion, and metastasis.12
319115842020BCL9 provides multi-cellular communication properties in colorectal cancer by interacting with paraspeckle proteins.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/gene-fusions-explorer/meetings/humanGenome