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BCL9 (B-cell CLL/lymphoma 9)

Identity

HGNC (Hugo) BCL9
Location 1q21
Location_base_pair Starts at 147013182 and ends at 147098013 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)
  

External links

Nomenclature
HGNC (Hugo)BCL9   1008
Entrez_Gene (NCBI)BCL9  607  B-cell CLL/lymphoma 9
Cards
AtlasBCL9ID466
GeneCards (Weizmann)BCL9
Ensembl (Hinxton)ENSG00000116128 [Gene_View]  BCL9 [Vega]
AceView (NCBI)BCL9
Genatlas (Paris)BCL9
euGene (Indiana)607
SOURCE (Stanford)NM_004326
Gene Expression (Array Express) ENSG00000116128
Genomic and cartography
GoldenPath (UCSC)BCL9  -  1q21   chr1:147013182-147098013 +  1q21   [Description]    (hg19-Feb_2009)
EnsemblBCL9 - 1q21 [CytoView]
Mapping of homologs : NCBIBCL9 [Mapview]
OMIM602597   
Gene and transcription
Gene : Genbank (Entrez)BC116451 CR597072 Y13620
Reference sequence (RefSeq transcript) :SRSNM_004326
Reference transcript : EntrezNM_004326
RefSeq genomic : SRSAC_000044 AC_000133 NC_000001 NT_167185 NW_001838511 NW_924906
RefSeq genomic : EntrezAC_000044 AC_000133 NC_000001 NT_167185 NW_001838511 NW_924906
Consensus coding sequences : CCDS NCBIBCL9
Cluster EST : UnigeneHs.415209 [ SRS ] Hs.415209 [ NCBI ]
Alternative Splicing : Fast-db (Paris)17211
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtO00512 (SRS) O00512 (Expasy) O00512 (Uniprot)
With graphics : InterProO00512
Splice isoforms : VarSplice FASTAO00512(VarSplice FASTA)
Domains : Interpro (SRS)Bcl-9   
Domains : Interpro (EBI)Bcl-9   
Related proteins : CluSTrO00512
Domain families : Pfam SRS
Domain families : Pfam Sanger
Domain families : Pfam NCBI
Blocks (Seattle)O00512
Crystal structure of protein : PDB SRS2GL7    2VP7    2VPB    2VPD    2VPE    2VPG   
Crystal structure of protein : PDBSum2GL7    2VP7    2VPB    2VPD    2VPE    2VPG   
Crystal structure of protein : IMB2GL7    2VP7    2VPB    2VPD    2VPE    2VPG   
Crystal structure of protein : PDB RSDB2GL7    2VP7    2VPB    2VPD    2VPE    2VPG   
Human Protein AtlasENSG00000116128
HPRD04000
Protein Interaction databases
DIP (DOE-UCLA)O00512
IntAct (EBI)O00512
FunCoupENSG00000116128
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIBCL9
SNP : GeneSNP UtahBCL9
SNP : HGBaseBCL9
Genetic variants : HAPMAPBCL9
Cancer Gene: CensusBCL9 
Somatic Mutations in Cancer : COSMICBCL9 
Translocation Breakpoints in Cancer : TICdbBCL9 
Mutations and Diseases : HGMDBCL9
Hereditary diseases : OMIM602597   
Hereditary diseases : GENETests602597   
Diseases : Genetic AssociationBCL9
General knowledge
Homologs : HomoloGeneBCL9
Homology/Alignments : Family Browser UCSCBCL9
Phylogenetic Trees/Animal Genes : TreeFamBCL9
Chemical/Protein Interactions : CTD607
Keywords Ontology : AmiGOprotein binding  nucleus  Wnt receptor signaling pathway  regulation of transforming growth factor beta receptor signaling pathway  
Keywords Ontology : EGO-EBIprotein binding  nucleus  Wnt receptor signaling pathway  regulation of transforming growth factor beta receptor signaling pathway  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesBCL9 Related clones (RZPD - Berlin)
Literature
PubMed16 Pubmed reference(s) in Entrez
PubGeneBCL9

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, Zˆºllig 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. February 2003 .
URL : http://AtlasGeneticsOncology.org/Genes/BCL9ID466.html

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indexed on : Thu Jul 15 14:47:06 CEST 2010
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