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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 t0817q24q22ID1494 t1119q23p13ID1540 t614p25q32IRF4IGHID1175

External links

Nomenclature
HGNC (Hugo)BCL9   1008
Cards
AtlasBCL9ID466
Entrez_Gene (NCBI)BCL9  607  B-cell CLL/lymphoma 9
GeneCards (Weizmann)BCL9
Ensembl (Hinxton)ENSG00000116128 [Gene_View]  chr1:147013271-147098020 [Contig_View]  BCL9 [Vega]
ICGC DataPortalENSG00000116128
cBioPortalBCL9
AceView (NCBI)BCL9
Genatlas (Paris)BCL9
WikiGenes607
SOURCE (Princeton)NM_004326
Genomic and cartography
GoldenPath (UCSC)BCL9  -  1q21.2   chr1:147013271-147098020 +  1q21   [Description]    (hg19-Feb_2009)
EnsemblBCL9 - 1q21 [CytoView]
Mapping of homologs : NCBIBCL9 [Mapview]
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 ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00512 (Uniprot)
NextProtO00512  [Medical]
With graphics : InterProO00512
Splice isoforms : SwissVarO00512 (Swissvar)
Domains : Interpro (EBI)Bcl-9 [organisation]   BCL9_beta-catenin-bd_dom [organisation]  
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 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasO00512
HPRD04000
IPIIPI00160290   
Protein Interaction databases
DIP (DOE-UCLA)O00512
IntAct (EBI)O00512
FunCoupENSG00000116128
BioGRIDBCL9
InParanoidO00512
Interologous Interaction database O00512
IntegromeDBBCL9
STRING (EMBL)BCL9
Ontologies - Pathways
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
Wikipedia pathwaysBCL9
Gene fusion - rearrangments
Rearrangement : TICdbBCL9 [1q21.2]  -  - [11q23.3]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)BCL9
snp3D : Map Gene to Disease607
SNP (GeneSNP Utah)BCL9
SNP : HGBaseBCL9
Genetic variants : HAPMAPBCL9
Exome VariantBCL9
1000_GenomesBCL9 
ICGC programENSG00000116128 
Cancer Gene: CensusBCL9 
Somatic Mutations in Cancer : COSMICBCL9 
CONAN: Copy Number AnalysisBCL9 
Mutations and Diseases : HGMDBCL9
Genomic VariantsBCL9  BCL9 [DGVbeta]
dbVarBCL9
ClinVarBCL9
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM602597   
MedgenBCL9
GENETestsBCL9
Disease Genetic AssociationBCL9
Huge Navigator BCL9 [HugePedia]  BCL9 [HugeCancerGEM]
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
iHOPBCL9
OncoSearchBCL9

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

Search in all EBI   NCBI

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 : Sat Jul 26 15:10:44 CEST 2014

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jlhuret@AtlasGeneticsOncology.org.