Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

BCL9 (B-cell CLL/lymphoma 9)

Identity

HGNC (Hugo) BCL9
LocusID (NCBI) 607
Location 1q21
Location_base_pair Starts at 147013182 and ends at 147098015 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]  chr1:147013182-147098015 [Contig_View]  BCL9 [Vega]
AceView (NCBI)BCL9
Genatlas (Paris)BCL9
euGene (Indiana)607
SOURCE (Stanford)NM_004326
Genomic and cartography
GoldenPath (UCSC)BCL9  -  1q21   chr1:147013182-147098015 +  1q21   [Description]    (hg19-Feb_2009)
EnsemblBCL9 - 1q21 [CytoView]
Mapping of homologs : NCBIBCL9 [Mapview]
OMIM602597   
Gene and transcription
Genbank (Entrez)BC116451 Y13620
RefSeq transcript (SRS)NM_004326
RefSeq transcript (Entrez)NM_004326
RefSeq genomic (SRS)AC_000133 NC_000001 NT_167185 NW_001838511
RefSeq genomic (Entrez)AC_000133 NC_000001 NT_167185 NW_001838511
Consensus coding sequences : CCDS (NCBI)BCL9
Cluster EST : UnigeneHs.415209 [ SRS ] Hs.415209 [ NCBI ]
Alternative Splicing : Fast-db (Paris)17211
Alternative Splicing GalleryENSG00000116128
Gene ExpressionBCL9 [ NCBI-GEO ]   BCL9 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00512 (SRS) O00512 (Uniprot)
With graphics : InterProO00512
Splice isoforms : SwissVarO00512(Swissvar)
Domains : Interpro (SRS)Bcl-9    BCL9_beta-catenin-bd_dom   
Domains : Interpro (EBI)Bcl-9    BCL9_beta-catenin-bd_dom   
Related proteins : CluSTrO00512
Domain families : Pfam (SRS)BCL9 (PF11502)   
Domain families : Pfam (Sanger)BCL9 (PF11502)   
Domain families : Pfam (NCBI)pfam11502   
Blocks (Seattle)O00512
PDB (SRS)2GL7    2VP7    2VPB    2VPD    2VPE    2VPG   
PDB (PDBSum)2GL7    2VP7    2VPB    2VPD    2VPE    2VPG   
PDB (IMB)2GL7    2VP7    2VPB    2VPD    2VPE    2VPG   
PDB (RSDB)2GL7    2VP7    2VPB    2VPD    2VPE    2VPG   
Human Protein AtlasENSG00000116128
HPRD04000
IPIIPI00160290   
Protein Interaction databases
DIP (DOE-UCLA)O00512
IntAct (EBI)O00512
FunCoupENSG00000116128
REACTOMEBCL9
BioGRIDBCL9
InParanoidO00512
Interologous Interaction database O00512
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)BCL9
SNP (GeneSNP Utah)BCL9
SNP : HGBaseBCL9
Genetic variants : HAPMAPBCL9
Cancer Gene: CensusBCL9 
Somatic Mutations in Cancer : COSMICBCL9 
CONAN: Copy Number AnalysisBCL9 
Translocation Breakpoints in Cancer : TICdbBCL9 
Mutations and Diseases : HGMDBCL9
OMIM602597   
GENETests602597   
Disease Genetic AssociationBCL9
Huge Navigator BCL9 [HugePedia]  BCL9 [HugeCancerGEM]
Genomic VariantsBCL9
snp3D : Map Gene to Disease607
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
Ontology : AmiGOprotein binding  nucleus  Wnt receptor signaling pathway  regulation of transforming growth factor beta receptor signaling pathway  
Ontology : EGO-EBIprotein binding  nucleus  Wnt receptor signaling pathway  regulation of transforming growth factor beta receptor signaling pathway  
Other databases
Probes
Probes : ImagenesBCL9 Related clones (RZPD - Berlin)
Litterature
PubMed21 Pubmed reference(s) in Entrez
PubGeneBCL9
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, Zˆºllig 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. February 2003 .
URL : http://AtlasGeneticsOncology.org/Genes/BCL9ID466.html

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/37956/1/02-2003-BCL9ID466.pdf   [ Bibliographic record ]

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Apr 28 15:05:18 CEST 2012
Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.