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BCL9 (B-cell CLL/lymphoma 9)

Identity

HGNC (Hugo) BCL9
LocusID (NCBI) 607
Location 1q21.2
Location_base_pair Starts at 147013271 and ends at 147098020 bp from pter ( according to hg19-Feb_2009)  [Mapping]

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

Entity t(1;14)(q21;q32) 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)
  

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615 11q23ID1030 11q23secondLeukID1131

External links

Nomenclature
HGNC (Hugo)BCL9   1008
Cards
AtlasBCL9ID466
Entrez_Gene (NCBI)BCL9  607  B-cell CLL/lymphoma 9
GeneCards (Weizmann)BCL9
Ensembl hg19 (Hinxton)ENSG00000116128 [Gene_View]  chr1:147013271-147098020 [Contig_View]  BCL9 [Vega]
Ensembl hg38 (Hinxton)ENSG00000116128 [Gene_View]  chr1:147013271-147098020 [Contig_View]  BCL9 [Vega]
ICGC DataPortalENSG00000116128
cBioPortalBCL9
AceView (NCBI)BCL9
Genatlas (Paris)BCL9
WikiGenes607
SOURCE (Princeton)BCL9
Genomic and cartography
GoldenPath hg19 (UCSC)BCL9  -     chr1:147013271-147098020 +  1q21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BCL9  -     1q21   [Description]    (hg38-Dec_2013)
EnsemblBCL9 - 1q21 [CytoView hg19]  BCL9 - 1q21 [CytoView hg38]
Mapping of homologs : NCBIBCL9 [Mapview hg19]  BCL9 [Mapview hg38]
OMIM602597   
Gene and transcription
Genbank (Entrez)AW104430 BC116451 CN281037 CN281038 DA593760
RefSeq transcript (Entrez)NM_004326
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NT_004487 NW_001838511 NW_004929293
Consensus coding sequences : CCDS (NCBI)BCL9
Cluster EST : UnigeneHs.415209 [ NCBI ]
CGAP (NCI)Hs.415209
Alternative Splicing : Fast-db (Paris)GSHG0000909
Alternative Splicing GalleryENSG00000116128
Gene ExpressionBCL9 [ NCBI-GEO ]     BCL9 [ SEEK ]   BCL9 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00512 (Uniprot)
NextProtO00512  [Medical]
With graphics : InterProO00512
Splice isoforms : SwissVarO00512 (Swissvar)
Domains : Interpro (EBI)Bcl-9    BCL9_beta-catenin-bd_dom   
Related proteins : CluSTrO00512
Domain families : Pfam (Sanger)BCL9 (PF11502)   
Domain families : Pfam (NCBI)pfam11502   
DMDM Disease mutations607
Blocks (Seattle)O00512
PDB (SRS)2GL7    2VP7    2VPB    2VPD    2VPE    2VPG    3SL9   
PDB (PDBSum)2GL7    2VP7    2VPB    2VPD    2VPE    2VPG    3SL9   
PDB (IMB)2GL7    2VP7    2VPB    2VPD    2VPE    2VPG    3SL9   
PDB (RSDB)2GL7    2VP7    2VPB    2VPD    2VPE    2VPG    3SL9   
Human Protein AtlasENSG00000116128
Peptide AtlasO00512
HPRD04000
IPIIPI00160290   
Protein Interaction databases
DIP (DOE-UCLA)O00512
IntAct (EBI)O00512
FunCoupENSG00000116128
BioGRIDBCL9
IntegromeDBBCL9
STRING (EMBL)BCL9
Ontologies - Pathways
QuickGOO00512
Ontology : AmiGOprotein binding  nucleus  Golgi apparatus  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 maintenance  skeletal muscle cell differentiation  positive regulation of transcription from RNA polymerase II promoter  canonical Wnt signaling pathway  
Ontology : EGO-EBIprotein binding  nucleus  Golgi apparatus  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 maintenance  skeletal muscle cell differentiation  positive regulation of transcription from RNA polymerase II promoter  canonical Wnt signaling pathway  
Protein Interaction DatabaseBCL9
DoCM (Curated mutations)BCL9
Wikipedia pathwaysBCL9
Gene fusion - rearrangements
Rearrangement : TICdbBCL9 [1q21.2]  -  - [11q23.3]
Polymorphisms : SNP, variants
NCBI Variation ViewerBCL9 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BCL9
dbVarBCL9
ClinVarBCL9
1000_GenomesBCL9 
Exome Variant ServerBCL9
SNP (GeneSNP Utah)BCL9
SNP : HGBaseBCL9
Genetic variants : HAPMAPBCL9
Genomic VariantsBCL9  BCL9 [DGVbeta]
Mutations
ICGC Data PortalENSG00000116128 
Cancer Gene: CensusBCL9 
Somatic Mutations in Cancer : COSMICBCL9 
CONAN: Copy Number AnalysisBCL9 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:147013271-147098020
Mutations and Diseases : HGMDBCL9
OMIM602597   
MedgenBCL9
NextProtO00512 [Medical]
GENETestsBCL9
Disease Genetic AssociationBCL9
Huge Navigator BCL9 [HugePedia]  BCL9 [HugeCancerGEM]
snp3D : Map Gene to Disease607
DGIdb (Drug Gene Interaction db)BCL9
General knowledge
Homologs : HomoloGeneBCL9
Homology/Alignments : Family Browser (UCSC)BCL9
Phylogenetic Trees/Animal Genes : TreeFamBCL9
Chemical/Protein Interactions : CTD607
Chemical/Pharm GKB GenePA25318
Clinical trialBCL9
Cancer Resource (Charite)ENSG00000116128
Other databases
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
CoreMineBCL9
GoPubMedBCL9
iHOPBCL9

Bibliography

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
 
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, Zł║llig S, Basler K
Cell. 2002 ; 109 (1) : 47-60.
PMID 11955446
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written02-2003Jean-Loup Huret, Sylvie Senon

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 online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/BCL9ID466.html

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indexed on : Sun Dec 21 03:05:16 CET 2014

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