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BCL9 (B-cell CLL/lymphoma 9)

Written2003-02Jean-Loup Huret, Sylvie Senon
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

HGNC (Hugo) BCL9
HGNC Previous nameB cell CLL/lymphoma 9
 BCL9, transcription coactivator
LocusID (NCBI) 607
Atlas_Id 466
Location 1q21.2  [Link to chromosome band 1q21]
Location_base_pair Starts at 147541501 and ends at 147626214 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping BCL9.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BCL9 (1q21.2)::IVL (1q21.3)BCL9 (1q21.2)::MRPL36 (5p15.33)BCL9 (1q21.2)::RASAL2 (1q25.2)
BCL9 (1q21.2)::SMCP (1q21.3)BCL9 (1q21.2)::VPREB1 (22q11.22)BCL9 (1q21.2)::ZNF321P (19q13)
JCHAIN (4q13.3)::BCL9 (1q21.2)MEF2D (1q22)::BCL9 (1q21.2)MRPL36 (5p15.33)::BCL9 (1q21.2)
STPG1 (1p36.11)::BCL9 (1q21.2)UAP1 (1q23.3)::BCL9 (1q21.2)

DNA/RNA

Description 10 exons spanning 85 kb.
Transcription transcripts of 1.6, 4.2, and 6.3 kb.

Protein

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

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

Bibliography

Wnt/wingless signaling requires BCL9/legless-mediated recruitment of pygopus to the nuclear beta-catenin-TCF complex.
Kramps T, Peter O, Brunner E, Nellen D, Froesch B, Chatterjee S, Murone M, Züllig S, Basler K
Cell. 2002 ; 109 (1) : 47-60.
PMID 11955446
 
Molecular cloning of translocation t(1;14)(q21;q32) defines a novel gene (BCL9) at chromosome 1q21.
Willis TG, Zalcberg IR, Coignet LJ, Wlodarska I, Stul M, Jadayel DM, Bastard C, Treleaven JG, Catovsky D, Silva ML, Dyer MJ
Blood. 1998 ; 91 (6) : 1873-1881.
PMID 9490669
 

Citation

This paper should be referenced as such :
Huret, JL ; Senon, S
BCL9 (B-cell CLL/lymphoma 9)
Atlas Genet Cytogenet Oncol Haematol. 2003;7(2):101-101.
Free journal version : [ pdf ]   [ DOI ]


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 7 ]
  Multiple Myeloma
t(1;1)(p36;q21) in Non Hodgkin Lymphoma
t(1;14)(q21;q32) BCL9::IGH::t(1;22)(q21;q11) IGL::BCL9
t(1;14)(q21;q32) FCRL4::IGH
t(1;14)(q21;q32)::t(1;22)(q21;q11)
t(1;14)(q21;q32) MUC1::IGH
t(1;1)(q21;q22) MEF2D::BCL9


External links

 

Nomenclature
HGNC (Hugo)BCL9   1008
Cards
AtlasBCL9ID466
Entrez_Gene (NCBI)BCL9    BCL9 transcription coactivator
AliasesLGS
GeneCards (Weizmann)BCL9
Ensembl hg19 (Hinxton)ENSG00000116128 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116128 [Gene_View]  ENSG00000116128 [Sequence]  chr1:147541501-147626214 [Contig_View]  BCL9 [Vega]
ICGC DataPortalENSG00000116128
TCGA cBioPortalBCL9
AceView (NCBI)BCL9
Genatlas (Paris)BCL9
SOURCE (Princeton)BCL9
Genetics Home Reference (NIH)BCL9
Genomic and cartography
GoldenPath hg38 (UCSC)BCL9  -     chr1:147541501-147626214 +  1q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BCL9  -     1q21.2   [Description]    (hg19-Feb_2009)
GoldenPathBCL9 - 1q21.2 [CytoView hg19]  BCL9 - 1q21.2 [CytoView hg38]
ImmunoBaseENSG00000116128
Genome Data Viewer NCBIBCL9 [Mapview hg19]  
OMIM602597   
Gene and transcription
Genbank (Entrez)AW104430 BC116451 CN281037 CN281038 DA593760
RefSeq transcript (Entrez)NM_004326
Consensus coding sequences : CCDS (NCBI)BCL9
Gene ExpressionBCL9 [ NCBI-GEO ]   BCL9 [ EBI - ARRAY_EXPRESS ]   BCL9 [ SEEK ]   BCL9 [ MEM ]
Gene Expression Viewer (FireBrowse)BCL9 [ Firebrowse - Broad ]
GenevisibleExpression of BCL9 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)607
GTEX Portal (Tissue expression)BCL9
Human Protein AtlasENSG00000116128-BCL9 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00512   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00512  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00512
PhosPhoSitePlusO00512
Domains : Interpro (EBI)Bcl-9/Bcl-9l    BCL9_beta-catenin-bd_dom   
Domain families : Pfam (Sanger)BCL9 (PF11502)   
Domain families : Pfam (NCBI)pfam11502   
Conserved Domain (NCBI)BCL9
PDB (RSDB)2GL7    2VP7    2VPB    2VPD    2VPE    2VPG    3SL9   
PDB Europe2GL7    2VP7    2VPB    2VPD    2VPE    2VPG    3SL9   
PDB (PDBSum)2GL7    2VP7    2VPB    2VPD    2VPE    2VPG    3SL9   
PDB (IMB)2GL7    2VP7    2VPB    2VPD    2VPE    2VPG    3SL9   
Structural Biology KnowledgeBase2GL7    2VP7    2VPB    2VPD    2VPE    2VPG    3SL9   
SCOP (Structural Classification of Proteins)2GL7    2VP7    2VPB    2VPD    2VPE    2VPG    3SL9   
CATH (Classification of proteins structures)2GL7    2VP7    2VPB    2VPD    2VPE    2VPG    3SL9   
SuperfamilyO00512
AlphaFold pdb e-kbO00512   
Human Protein Atlas [tissue]ENSG00000116128-BCL9 [tissue]
HPRD04000
Protein Interaction databases
DIP (DOE-UCLA)O00512
IntAct (EBI)O00512
BioGRIDBCL9
STRING (EMBL)BCL9
ZODIACBCL9
Ontologies - Pathways
QuickGOO00512
Ontology : AmiGOtranscription coactivator activity  protein binding  nucleoplasm  cis-Golgi network  beta-catenin binding  myotube differentiation involved in skeletal muscle regeneration  regulation of transforming growth factor beta receptor signaling pathway  somatic stem cell population maintenance  skeletal muscle cell differentiation  positive regulation of transcription by RNA polymerase II  canonical Wnt signaling pathway  beta-catenin-TCF complex assembly  beta-catenin-TCF complex  beta-catenin-TCF complex  beta-catenin-TCF complex  
Ontology : EGO-EBItranscription coactivator activity  protein binding  nucleoplasm  cis-Golgi network  beta-catenin binding  myotube differentiation involved in skeletal muscle regeneration  regulation of transforming growth factor beta receptor signaling pathway  somatic stem cell population maintenance  skeletal muscle cell differentiation  positive regulation of transcription by RNA polymerase II  canonical Wnt signaling pathway  beta-catenin-TCF complex assembly  beta-catenin-TCF complex  beta-catenin-TCF complex  beta-catenin-TCF complex  
REACTOMEO00512 [protein]
REACTOME PathwaysR-HSA-3769402 [pathway]   
NDEx NetworkBCL9
Atlas of Cancer Signalling NetworkBCL9
Wikipedia pathwaysBCL9
Orthology - Evolution
OrthoDB607
GeneTree (enSembl)ENSG00000116128
Phylogenetic Trees/Animal Genes : TreeFamBCL9
Homologs : HomoloGeneBCL9
Homology/Alignments : Family Browser (UCSC)BCL9
Gene fusions - Rearrangements
Fusion : MitelmanBCL9::IVL [1q21.2/1q21.3]  
Fusion : MitelmanBCL9::RASAL2 [1q21.2/1q25.2]  
Fusion : MitelmanBCL9::SMCP [1q21.2/1q21.3]  
Fusion : MitelmanIGH::BCL9 [14q32.33/1q21.2]  
Fusion : MitelmanIGL::BCL9 [22q11.22/1q21.2]  
Fusion : MitelmanUAP1::BCL9 [1q23.3/1q21.2]  
Fusion : QuiverBCL9
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBCL9 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BCL9
dbVarBCL9
ClinVarBCL9
MonarchBCL9
1000_GenomesBCL9 
Exome Variant ServerBCL9
GNOMAD BrowserENSG00000116128
Varsome BrowserBCL9
ACMGBCL9 variants
VarityO00512
Genomic Variants (DGV)BCL9 [DGVbeta]
DECIPHERBCL9 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBCL9 
Mutations
ICGC Data PortalBCL9 
TCGA Data PortalBCL9 
Broad Tumor PortalBCL9
OASIS PortalBCL9 [ Somatic mutations - Copy number]
Cancer Gene: CensusBCL9 
Somatic Mutations in Cancer : COSMICBCL9  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DBCL9
Mutations and Diseases : HGMDBCL9
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaBCL9
DgiDB (Drug Gene Interaction Database)BCL9
DoCM (Curated mutations)BCL9
CIViC (Clinical Interpretations of Variants in Cancer)BCL9
OncoKBBCL9
NCG (London)BCL9
Cancer3DBCL9
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602597   
Orphanet
DisGeNETBCL9
MedgenBCL9
Genetic Testing Registry BCL9
NextProtO00512 [Medical]
GENETestsBCL9
Target ValidationBCL9
Huge Navigator BCL9 [HugePedia]
ClinGenBCL9
Clinical trials, drugs, therapy
MyCancerGenomeBCL9
Protein Interactions : CTDBCL9
Pharm GKB GenePA25318
PharosO00512
Clinical trialBCL9
Miscellaneous
canSAR (ICR)BCL9
HarmonizomeBCL9
DataMed IndexBCL9
Probes
Litterature
PubMed66 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXBCL9
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Oct 8 21:13:23 CEST 2021

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.