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BCL9 Gene

protein-coding   GIFtS: 60
GCID: GC01P147013

B-Cell CLL/Lymphoma 9

Pneumococci & Pneumococcal Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
B-Cell CLL/Lymphoma 91 2     B-Cell CLL/Lymphoma 9 Protein2
Protein Legless Homolog2 3     bcl-92
B-Cell Lymphoma 9 Protein2 3     Bcl-93
LGS2     

External Ids:    HGNC: 10081   Entrez Gene: 6072   Ensembl: ENSG000001161287   OMIM: 6025975   UniProtKB: O005123   

Export aliases for BCL9 gene to outside databases

Previous GC identifers: GC01P145227 GC01P143738 GC01P144357 GC01P144520 GC01P144237 GC01P145479 GC01P120426


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BCL9 Gene:
BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell
malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic
significance in B-cell malignancies. (provided by RefSeq, Jul 2008)

GeneCards Summary for BCL9 Gene:
BCL9 (B-cell CLL/lymphoma 9) is a protein-coding gene. Diseases associated with BCL9 include b-cell lymphomas, and skeletal muscle regeneration. GO annotations related to this gene include beta-catenin binding. An important paralog of this gene is BCL9L.

UniProtKB/Swiss-Prot: BCL9_HUMAN, O00512
Function: Involved in signal transduction through the Wnt pathway. Promotes beta-catenin's transcriptional
activity (By similarity)

Gene Wiki entry for BCL9 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BCL9 gene promoter:
         STAT1   NF-1/L   NF-1   GR-beta   CUTL1   GATA-1   PPAR-gamma1   PPAR-gamma2   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBCL9 promoter sequence
   Search Chromatin IP Primers for BCL9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BCL9


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21   Ensembl cytogenetic band:  1q21.2   HGNC cytogenetic band: 1q21

BCL9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BCL9 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P147013:  view genomic region     (about GC identifiers)

Start:
147,013,182 bp from pter      End:
147,098,017 bp from pter
Size:
84,836 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: BCL9_HUMAN, O00512 (See protein sequence)
Recommended Name: B-cell CLL/lymphoma 9 protein  
Size: 1426 amino acids; 149290 Da
Subunit: Binds to beta-catenin (CTNNB1), PYGO1 and PYGO2; the interaction with PYGO1 increases PYGO1 affinity to
histone H3 methylated at 'Lys 4'
Caution: It is uncertain whether Met-1 or Met-27 is the initiator
Sequence caution: Sequence=CAA73942.1; Type=Frameshift; Positions=1391;
Selected PDB 3D structures from and Proteopedia for BCL9 (see all 7):
2GL7 (3D)        2VP7 (3D)        2VPB (3D)        2VPD (3D)        2VPE (3D)        2VPG (3D)    
Secondary accessions: Q5T489

Explore the universe of human proteins at neXtProt for BCL9: NX_O00512

Explore proteomics data for BCL9 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BCL9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004317.2  
    ENSEMBL proteins: 
     ENSP00000234739  
    Reactome Protein details: O00512

    BCL9 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR015668 Bcl-9
     IPR024670 BCL9_beta-catenin-bd_dom

    Graphical View of Domain Structure for InterPro Entry O00512

    ProtoNet protein and cluster: O00512

    UniProtKB/Swiss-Prot: BCL9_HUMAN, O00512
    Similarity: Belongs to the BCL9 family


    BCL9 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BCL9_HUMAN, O00512
    Function: Involved in signal transduction through the Wnt pathway. Promotes beta-catenin's transcriptional
    activity (By similarity)

         Genatlas biochemistry entry for BCL9:
    gene coding for a large proline-rich protein with two transcripts,expressed in all tissues and a third expressed
    only in thymus,spleen,small intestine,involved in translocation t(1;14) and t(1;22)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11955446
    GO:0008013beta-catenin binding IEA--
         
    BCL9 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for BCL9:
     Decreased Tat-dependent transc  Decreased p24 protein expressi  Increased cell transformation 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Bcl9):
     muscle 

    BCL9 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BCL9
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BCL9

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BCL9
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BCL9

    miRNA
    Products:
        
    miRTarBase miRNAs that target BCL9:
    hsa-mir-101-3p (MIRT027374), hsa-mir-605-5p (MIRT040481), hsa-mir-98-5p (MIRT027816), hsa-mir-92a-3p (MIRT049671)

    Block miRNA regulation of human, mouse, rat BCL9 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BCL9 (see all 46):
    hsa-miR-140-5p hsa-miR-548j hsa-miR-188-5p hsa-miR-605 hsa-miR-30d hsa-miR-218 hsa-miR-3921 hsa-miR-371-5p
    SwitchGear 3'UTR luciferase reporter plasmidBCL9 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BCL9
    Predesigned siRNA for gene silencing in human, mouse, rat BCL9

    Gene Editing
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: BCL9 (NM_004326)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BCL9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BCL9

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCL9


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BCL9_HUMAN, O00512: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005794Golgi apparatus IEA--
    GO:0005801cis-Golgi network IDA--

    BCL9 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BCL9 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Wnt signaling pathway (KEGG)
    Wnt Signaling Pathways0.40
    Wnt Signaling Pathway NetPath0.37
    2WNT Signaling
    WNT Signaling
    3Regulation of Wnt-mediated beta catenin signaling and target gene transcription
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for BCL9
        Wnt Signaling Pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for BCL9
        WNT Signaling

    2 BioSystems Pathways for BCL9
        Wnt Signaling Pathway NetPath
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription

    2 Reactome Pathways for BCL9
        deactivation of the beta-catenin transactivating complex
    formation of the beta-catenin:TCF transactivating complex



    BCL9 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BCL9: 
              WNT Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BCL9

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for BCL9 (O005121, 2, 3 ENSP000002347394) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDC73Q6P1J91, 3, ENSP000003564054EBI-533127,EBI-930143 I2D: score=2 STRING: ENSP00000356405
    PYGO2Q9BRQ01, 2, 3, ENSP000003574424EBI-533127,EBI-932471 MINT-8183368 I2D: score=2 STRING: ENSP00000357442
    PYGO1Q9Y3Y41, 3, ENSP000003023274EBI-533127,EBI-3397474 I2D: score=4 STRING: ENSP00000302327
    CTNNB1P352221, 3, ENSP000003444564EBI-533127,EBI-491549 I2D: score=5 STRING: ENSP00000344456
    TCF4P158843, ENSP000003464404I2D: score=2 STRING: ENSP00000346440
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0014908myotube differentiation involved in skeletal muscle regeneration IEA--
    GO:0017015NOT regulation of transforming growth factor beta receptor signaling pathway IMP19328798
    GO:0035019somatic stem cell maintenance IEA--
    GO:0035914skeletal muscle cell differentiation IEA--
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IEA--

    BCL9 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BCL9



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for BCL9 gene: 
    NM_004326.3  

    Unigene Cluster for BCL9:

    B-cell CLL/lymphoma 9
    Hs.415209  [show with all ESTs]
    Unigene Representative Sequence: NM_004326
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000234739(uc010ozr.1 uc001epq.3) ENST00000497938 ENST00000473292


    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat BCL9 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BCL9 (see all 46):
    hsa-miR-140-5p hsa-miR-548j hsa-miR-188-5p hsa-miR-605 hsa-miR-30d hsa-miR-218 hsa-miR-3921 hsa-miR-371-5p
    SwitchGear 3'UTR luciferase reporter plasmidBCL9 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BCL9
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: BCL9 (NM_004326)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BCL9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BCL9
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for BCL9
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BCL9
      QuantiTect SYBR Green Assays in human, mouse, rat BCL9
      QuantiFast Probe-based Assays in human, mouse, rat BCL9

    Additional mRNA sequence: 

    BC115016.1 BC115017.1 BC115018.1 BC115019.1 BC116451.1 Y13620.1 

    6 DOTS entries:

    DT.311064  DT.65286142  DT.95152086  DT.95254678  DT.430753  DT.75151309 

    Selected AceView cDNA sequences (see all 106):

    BE018332 BF751695 BU845594 AW008730 BQ683054 BU931046 AW104430 BU689763 
    AI858878 AA515870 BM701828 BG107403 AI391511 AI467999 CR597072 BQ952309 
    BF115910 BM929639 BG615836 BE882044 BV197144 BE870124 BM973538 AA665891 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for BCL9    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
    SP1:        -                                                                           
    SP2:                                                                                    
    SP3:                                                  -                                 


    ECgene alternative splicing isoforms for BCL9

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BCL9 expression in normal human tissues (normalized intensities)      BCL9 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGTAAGACGT
    BCL9 Expression
    About this image


    BCL9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Neural Tube (Nervous System)
             Metencephalon
    BCL9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BCL9 Protein Expression

    Genevestigator expression for BCL9

    SOURCE GeneReport for Unigene cluster: Hs.415209

    UniProtKB/Swiss-Prot: BCL9_HUMAN, O00512
    Tissue specificity: Detected at low levels in thymus, prostate, testis, ovary and small intestine, and at lower
    levels in spleen, colon and blood

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BCL9: 
              WNT Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for BCL9
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BCL9
    QuantiTect SYBR Green Assays in human, mouse, rat BCL9
    QuantiFast Probe-based Assays in human, mouse, rat BCL9
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCL9

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for BCL9 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bcl91 , 5 B cell CLL/lymphoma 91, 5 92.89(n)1
    95.37(a)1
      3 (42.04 cM)5
    775781  NM_029933.41  NP_084209.31 
     972036625 
    chicken
    (Gallus gallus)
    Aves BCL91 B-cell CLL/lymphoma 9 81.79(n)
    87.46(a)
      418456  XM_004938330.1  XP_004938387.1 
    lizard
    (Anolis carolinensis)
    Reptilia BCL96
    B-cell CLL/lymphoma 9
    84(a)
    1 ↔ 1
    3(162122064-162153631)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.24262 Xenopus laevis transcribed sequence with moderate similarity more 80.57(n)    AW645530.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bcl91 B-cell CLL/lymphoma 9 64.15(n)
    64.15(a)
      449616  NM_001005604.1  NP_001005604.1 


    ENSEMBL Gene Tree for BCL9 (if available)
    TreeFam Gene Tree for BCL9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BCL9 gene
    BCL9L2  

    BCL9 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for BCL9
    PGOHUM00000235614


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BCL9 (see all 1634)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1453802591,2
    C--147011185(+) GAGTAC/TCTGGA 1 -- us2k10--------
    rs1924919051,2
    --147011218(+) TATGGC/TGGGTA 1 -- us2k10--------
    rs741257241,2
    C,F--147011219(+) ATGGCG/AGGTAA 1 -- us2k12Minor allele frequency- A:0.04WA 120
    rs1476646751,2
    --147011324(+) TGCCTC/TGTTTT 1 -- us2k10--------
    rs1398259071,2
    C--147011329(+) CGTTTG/TTCTAT 1 -- us2k10--------
    rs1837299161,2
    --147011384(+) CAAATC/GAGTGG 1 -- us2k10--------
    rs1881016041,2
    C--147011418(+) TACTTA/TAAAAA 1 -- us2k10--------
    rs2014885601,2
    --147011427(+) AAAGG-/TTATTATT 1 -- us2k10--------
    rs557764251,2
    C,F--147011447(+) TTATAT/CTACCA 1 -- us2k11Minor allele frequency- C:0.03NA 120
    rs1917513891,2
    --147011476(+) GAGTCA/GGGACA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for BCL9 (147013182 - 147098017 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for BCL9:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2663751CNV Deletion23128226
    nsv831426CNV Loss17160897
    nsv831414CNV Gain17160897
    nsv872266CNV Gain21882294
    nsv7181OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): BCL9
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BCL9
    DNA2.0 Custom Variant and Variant Library Synthesis for BCL9

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602597    OMIM disorders: --

    UniProtKB/Swiss-Prot: BCL9_HUMAN, O00512
  • Note=A chromosomal aberration involving BCL9 is found in a patient with precusor B-cell acute
    lymphoblastic leukemia (ALL). Translocation t(1;14)(q21;q32). This translocation leaves the coding region intact,
    but may have pathogenic effects due to alterations in the expression level of BCL9. Several cases of
    translocations within the 3'-UTR of BCL9 have been found in B-cell malignancies

  • 16 diseases for BCL9:    About MalaCards
    b-cell lymphomas    skeletal muscle regeneration    lymphoblastic leukemia    atrioventricular septal defect
    leukemia    oral squamous cell carcinoma    chronic lymphocytic leukemia    squamous cell carcinoma
    ovarian cancer    colorectal cancer    schizophrenia    hiv-1
    multiple myeloma    myeloma    prostatitis    endotheliitis


    BCL9 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Genatlas disease: BCL9
    B-cell CLL ,chronic lymphocytic leukemia with translocation t(1;14)(q21;q32),t(1;22)(q21;q11)

    Genetic Association Database (GAD): BCL9
    Human Genome Epidemiology (HuGE) Navigator: BCL9 (6 documents)

    Export disorders for BCL9 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BCL9 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with BCL9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of translocation t(1;14)(q21;q32) defines a novel gene (BCL9) at chromosome 1q21. (PubMed id 9490669)1, 2, 3, 9 Willis T.G....Dyer M.J.S. (Blood 1998)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. Decoding of methylated histone H3 tail by the Pygo-BCL9 Wnt signaling complex. (PubMed id 18498752)1, 2 Fiedler M....Bienz M. (Mol. Cell 2008)
    5. Crystal structure of a beta-catenin/BCL9/Tcf4 complex. (PubMed id 17052462)1, 2 Sampietro J.... Xu W. (Mol. Cell 2006)
    6. Wnt/wingless signaling requires BCL9/legless-mediated recruitment of pygopus to the nuclear beta-catenin-TCF complex. (PubMed id 11955446)1, 2 Kramps T.... Basler K. (Cell 2002)
    7. Cell-type-specific function of BCL9 involves a transcriptional activation domain that synergizes with beta-catenin. (PubMed id 18347063)1, 9 Sustmann C....Grosschedl R. (Mol. Cell. Biol. 2008)
    8. BCL9-2 binds Arm/beta-catenin in a Tyr142-independent manner and requires Pygopus for its function in Wg/Wnt signaling. (PubMed id 17113272)1, 9 Hoffmans R. and Basler K. (Mech. Dev. 2007)
    9. A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients. (PubMed id 24025145)1 Chung S....Nakamura Y. (Breast Cancer Res. 2013)
    10. BCL9 and C9orf5 are associated with negative symptoms in schizophrenia: meta-analysis of two genome-wide association studies. (PubMed id 23382809)1 Xu C....Wang K. (PLoS ONE 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 607 HGNC: 1008 AceView: BCL9 Ensembl:ENSG00000116128 euGenes: HUgn607
    ECgene: BCL9 H-InvDB: BCL9

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BCL9 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BCL9 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BCL9 gene:
    Search GeneIP for patents involving BCL9

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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