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BCL10 (B-cell CLL/lymphoma 10)

Written2009-01Pei Lin
Department of Hematopathology, University of Texas-MD Anderson Cancer Center Houston, Texas, 77030 USA

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)CARMEN
CIPER
mE10
c-E10
CLAP
Other aliasBcl-10
Cellular-E10
OTTHUMP00000011647
OTTHUMP00000036080
cCARMEN
hCLAP
HGNC (Hugo) BCL10
LocusID (NCBI) 8915
Atlas_Id 222
Location 1p22.3  [Link to chromosome band 1p22]
Location_base_pair Starts at 85731460 and ends at 85742587 bp from pter ( according to hg19-Feb_2009)  [Mapping BCL10.png]
Fusion genes
(updated 2016)
BCL10 (1p22.3) / CLTA (9p13.3)BCL10 (1p22.3) / IGH (14q32.33)IGH (14q32.33) / BCL10 (1p22.3)
IGHG1 (14q32.33) / BCL10 (1p22.3)IGK (14q32.33) / BCL10 (1p22.3)

DNA/RNA

Description 12,308 bases, 4 exons, Transcription: 4.2 kb.
Transcription Transcription produces 4 alternatively spliced variants and 1 unspliced form with 2,974 bps or 2,819 bps.

Protein

Description 233 amino acids with a molecular weight of 26252 Da.
Expression BCL10 is expressed in all normal and malignant tissues. In the lymphoid tissue, it is highly expressed in the germinal center but low in the mantle zone, and intermediate in the marginal zone. BCL10 is likely to play a role in the normal development of the germinal center.
Localisation BCL10 resides in the cytoplasm or perinuclear region of normal cells.
Function BCL10 functions normally as a proapoptotic protein through caspase recruitment domain (CARD) at the animo terminal and activation of NF-kappaB pathway. This activity requires oligomerization via the CARD domain and interaction between BCL10 and other CARD domain containing proteins including CARD9, CARD10, CARD11 and CARD14.
Homology Equine herpesvirus-2 E10 gene.

Implicated in

Note
  
Entity 1p rearrangement/Non-Hodgkin lymphoma
Disease Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma).
  • Phenotype stem cell origin: Marginal zone B-cells.
  • Epidemiology: Commonly seen in MALT lymphoma involving stomach (approximately 4%) and lung (approximately 9%). Uncommon in MALT lymphoma involving other sites.
  • Evolution: MALT lymphoma may evolve to diffuse large B-cell lymphoma.
  • Prognosis Generally indolent.
    Cytogenetics In t(1;14)(p22;q32). The gene on 14q32 is IgH. The breakpoint on 1p22 involves a recurrent breakpoint upstream of the promoter of BCL10.
    Hybrid/Mutated Gene BCL10-IgH.
    The translocation t(1;14)(p22;q32) is associated with frameshift mutation of BCL10 and truncation of BCL10 protein distal to CARD. The mutant type of BCL10 enhances cell survival and proliferation through activation of NF-kappaB pathway. MALT lymphomas without BCL10 rearrangement may also carry BCL10 mutation however.
     
    MALT lymphoma expressing BCL10 (courtesy of Dr. Du M-Q).
    Abnormal Protein MALT lymphomas with t(1;14)(p22;q32) demonstrate strong nuclear BCL10 staining regardless of BCL10 mutation status. MALT lymphoma without t(1;14)(p22;q32) may also show strong nuclear staining.So a strong nuclear BCL10 staining is not always a presumptive evidence of t(1;14)(p22;q32). This pattern is different from the weak cytoplasmic expression observed in normal germinal center B-cells.
    Oncogenesis Loss of CARD domain through translocation and mutations lead to loss of proapoptotic activity. In addition, MALT1 and BCL10 may synergize in the activation of NF-kappaB leading to enhanced cell survival and downstream activation of anti-apoptotic/proliferative signals.
      
      
    Entity Various Cancers
    Disease BCL10 mutations have also been described in follicular lymphoma, Sezary syndrome, malignant mesothelioma, germ cell tumor, and colon cancer.
      

    Bibliography

    MALT lymphoma: recent advances in aetiology and molecular genetics.
    Du M-Q.
    J Clin Exp Hematop. 2007 Nov;47(2):31-42.
    PMID 18040143
     
    BCL10 gene mutation in lymphoma.
    Du MQ, Peng H, Liu H, Hamoudi RA, Diss TC, Willis TG, Ye H, Dogan A, Wotherspoon AC, Dyer MJ, Isaacson PG.
    Blood. 2000 Jun 15;95(12):3885-90.
    PMID 10845924
     
    Bcl10 is involved in t(1;14)(p22;q32) of MALT B cell lymphoma and mutated in multiple tumor types.
    Willis TG, Jadayel DM, Du MQ, Peng H, Perry AR, Abdul-Rauf M, Price H, Karran L, Majekodunmi O, Wlodarska I, Pan L, Crook T, Hamoudi R, Isaacson PG, Dyer MJ.
    Cell. 1999 Jan 8;96(1):35-45.
    PMID 9989495
     
    Inactivating mutations and overexpression of BCL10, a caspase recruitment domain-containing gene, in MALT lymphoma with t(1;14)(p22;q32).
    Zhang Q, Siebert R, Yan M, Hinzmann B, Cui X, Xue L, Rakestraw KM, Naeve CW, Beckmann G, Weisenburger DD, Sanger WG, Nowotny H, Vesely M, Callet-Bauchu E, Salles G, Dixit VM, Rosenthal A, Schlegelberger B, Morris SW.
    Nat Genet. 1999 May;22(1):63-8.
    PMID 10319863
     

    Citation

    This paper should be referenced as such :
    Lin, P
    BCL10 (B-cell CLL/lymphoma 10)
    Atlas Genet Cytogenet Oncol Haematol. 2009;13(12):909-910.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Genes/BCL10ID222ch1p22.html


    Other Leukemias implicated (Data extracted from papers in the Atlas) [ 4 ]
      Marginal Zone B-cell lymphoma
    t(3;14)(p14;q32) IGH/FOXP1
    t(1;2)(p22;p12) IGK/BCL10::t(1;14)(p22;q32) IGH/BCL10
    t(14;18)(q32;q21) IGH/MALT1


    Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
      Gastric Tumors: an overview


    External links

    Nomenclature
    HGNC (Hugo)BCL10   989
    Cards
    AtlasBCL10ID222ch1p22
    Entrez_Gene (NCBI)BCL10  8915  B-cell CLL/lymphoma 10
    AliasesCARMEN; CIPER; CLAP; IMD37; 
    c-E10; mE10
    GeneCards (Weizmann)BCL10
    Ensembl hg19 (Hinxton)ENSG00000142867 [Gene_View]  chr1:85731460-85742587 [Contig_View]  BCL10 [Vega]
    Ensembl hg38 (Hinxton)ENSG00000142867 [Gene_View]  chr1:85731460-85742587 [Contig_View]  BCL10 [Vega]
    ICGC DataPortalENSG00000142867
    TCGA cBioPortalBCL10
    AceView (NCBI)BCL10
    Genatlas (Paris)BCL10
    WikiGenes8915
    SOURCE (Princeton)BCL10
    Genetics Home Reference (NIH)BCL10
    Genomic and cartography
    GoldenPath hg19 (UCSC)BCL10  -     chr1:85731460-85742587 -  1p22   [Description]    (hg19-Feb_2009)
    GoldenPath hg38 (UCSC)BCL10  -     1p22   [Description]    (hg38-Dec_2013)
    EnsemblBCL10 - 1p22 [CytoView hg19]  BCL10 - 1p22 [CytoView hg38]
    Mapping of homologs : NCBIBCL10 [Mapview hg19]  BCL10 [Mapview hg38]
    OMIM137245   156240   273300   603517   605027   613024   616098   
    Gene and transcription
    Genbank (Entrez)AF057700 AF082283 AF100338 AF105066 AF127386
    RefSeq transcript (Entrez)NM_001320715 NM_003921
    RefSeq genomic (Entrez)NC_000001 NC_018912 NG_012216 NT_032977 NW_004929290
    Consensus coding sequences : CCDS (NCBI)BCL10
    Cluster EST : UnigeneHs.193516 [ NCBI ]
    CGAP (NCI)Hs.193516
    Alternative Splicing GalleryENSG00000142867
    Gene ExpressionBCL10 [ NCBI-GEO ]   BCL10 [ EBI - ARRAY_EXPRESS ]   BCL10 [ SEEK ]   BCL10 [ MEM ]
    Gene Expression Viewer (FireBrowse)BCL10 [ Firebrowse - Broad ]
    SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
    GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
    BioGPS (Tissue expression)8915
    GTEX Portal (Tissue expression)BCL10
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtO95999   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
    NextProtO95999  [Sequence]  [Exons]  [Medical]  [Publications]
    With graphics : InterProO95999
    Splice isoforms : SwissVarO95999
    PhosPhoSitePlusO95999
    Domaine pattern : Prosite (Expaxy)CARD (PS50209)   
    Domains : Interpro (EBI)CARD    DEATH-like_dom   
    Domain families : Pfam (Sanger)CARD (PF00619)   
    Domain families : Pfam (NCBI)pfam00619   
    Conserved Domain (NCBI)BCL10
    DMDM Disease mutations8915
    Blocks (Seattle)BCL10
    PDB (SRS)2MB9   
    PDB (PDBSum)2MB9   
    PDB (IMB)2MB9   
    PDB (RSDB)2MB9   
    Structural Biology KnowledgeBase2MB9   
    SCOP (Structural Classification of Proteins)2MB9   
    CATH (Classification of proteins structures)2MB9   
    SuperfamilyO95999
    Human Protein AtlasENSG00000142867
    Peptide AtlasO95999
    HPRD04625
    IPIIPI00022477   IPI01013584   
    Protein Interaction databases
    DIP (DOE-UCLA)O95999
    IntAct (EBI)O95999
    FunCoupENSG00000142867
    BioGRIDBCL10
    STRING (EMBL)BCL10
    ZODIACBCL10
    Ontologies - Pathways
    QuickGOO95999
    Ontology : AmiGOimmunological synapse  B cell apoptotic process  neural tube closure  protease binding  stimulatory C-type lectin receptor signaling pathway  toll-like receptor signaling pathway  response to molecule of bacterial origin  adaptive immune response  adaptive immune response  negative regulation of mature B cell apoptotic process  transcription coactivator activity  protein binding  nucleus  cytoplasm  lysosome  cytosol  cytosol  cytoplasmic microtubule  plasma membrane  cellular defense response  I-kappaB kinase/NF-kappaB signaling  protein C-terminus binding  transcription factor binding  cell death  response to fungus  immunoglobulin mediated immune response  kinase activator activity  enzyme binding  kinase binding  protein kinase binding  positive regulation of protein ubiquitination  ubiquitin protein ligase binding  response to food  CBM complex  positive regulation of mast cell cytokine production  Fc-epsilon receptor signaling pathway  T cell receptor complex  lymphotoxin A biosynthetic process  interleukin-6 biosynthetic process  positive regulation of phosphorylation  positive regulation of I-kappaB kinase/NF-kappaB signaling  ubiquitin binding  protein complex  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  protein kinase B binding  protein self-association  innate immune response  membrane raft  positive regulation of interleukin-8 biosynthetic process  positive regulation of transcription, DNA-templated  lipopolysaccharide receptor complex  perinuclear region of cytoplasm  T cell receptor signaling pathway  T cell receptor signaling pathway  regulation of T cell receptor signaling pathway  positive regulation of T cell activation  NF-kappaB binding  positive regulation of NF-kappaB transcription factor activity  protein oligomerization  protein homooligomerization  protein homooligomerization  protein heterooligomerization  T cell apoptotic process  cellular response to mechanical stimulus  positive regulation of extrinsic apoptotic signaling pathway  
    Ontology : EGO-EBIimmunological synapse  B cell apoptotic process  neural tube closure  protease binding  stimulatory C-type lectin receptor signaling pathway  toll-like receptor signaling pathway  response to molecule of bacterial origin  adaptive immune response  adaptive immune response  negative regulation of mature B cell apoptotic process  transcription coactivator activity  protein binding  nucleus  cytoplasm  lysosome  cytosol  cytosol  cytoplasmic microtubule  plasma membrane  cellular defense response  I-kappaB kinase/NF-kappaB signaling  protein C-terminus binding  transcription factor binding  cell death  response to fungus  immunoglobulin mediated immune response  kinase activator activity  enzyme binding  kinase binding  protein kinase binding  positive regulation of protein ubiquitination  ubiquitin protein ligase binding  response to food  CBM complex  positive regulation of mast cell cytokine production  Fc-epsilon receptor signaling pathway  T cell receptor complex  lymphotoxin A biosynthetic process  interleukin-6 biosynthetic process  positive regulation of phosphorylation  positive regulation of I-kappaB kinase/NF-kappaB signaling  ubiquitin binding  protein complex  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  protein kinase B binding  protein self-association  innate immune response  membrane raft  positive regulation of interleukin-8 biosynthetic process  positive regulation of transcription, DNA-templated  lipopolysaccharide receptor complex  perinuclear region of cytoplasm  T cell receptor signaling pathway  T cell receptor signaling pathway  regulation of T cell receptor signaling pathway  positive regulation of T cell activation  NF-kappaB binding  positive regulation of NF-kappaB transcription factor activity  protein oligomerization  protein homooligomerization  protein homooligomerization  protein heterooligomerization  T cell apoptotic process  cellular response to mechanical stimulus  positive regulation of extrinsic apoptotic signaling pathway  
    Pathways : KEGGNF-kappa B signaling pathway    T cell receptor signaling pathway    B cell receptor signaling pathway    Tuberculosis   
    REACTOMEO95999 [protein]
    REACTOME Pathways1169091 [pathway]   202424 [pathway]   2871837 [pathway]   5607764 [pathway]   8866654 [pathway]   
    NDEx NetworkBCL10
    Atlas of Cancer Signalling NetworkBCL10
    Wikipedia pathwaysBCL10
    Orthology - Evolution
    OrthoDB8915
    GeneTree (enSembl)ENSG00000142867
    Phylogenetic Trees/Animal Genes : TreeFamBCL10
    HOVERGENO95999
    HOGENOMO95999
    Homologs : HomoloGeneBCL10
    Homology/Alignments : Family Browser (UCSC)BCL10
    Gene fusions - Rearrangements
    Fusion : MitelmanIGH/BCL10 [14q32.33/1p22.3]  [t(14;18)(q32;q21)]  [t(1;14)(p22;q32)]  
    [t(3;14)(p13;q32)]  
    Fusion : MitelmanIGK/BCL10 [2p11.2/1p22.3]  [t(1;2)(p22;p11)]  
    Polymorphisms : SNP and Copy number variants
    NCBI Variation ViewerBCL10 [hg38]
    dbSNP Single Nucleotide Polymorphism (NCBI)BCL10
    dbVarBCL10
    ClinVarBCL10
    1000_GenomesBCL10 
    Exome Variant ServerBCL10
    ExAC (Exome Aggregation Consortium)BCL10 (select the gene name)
    Genetic variants : HAPMAP8915
    Genomic Variants (DGV)BCL10 [DGVbeta]
    DECIPHER (Syndromes)1:85731460-85742587  ENSG00000142867
    CONAN: Copy Number AnalysisBCL10 
    Mutations
    ICGC Data PortalBCL10 
    TCGA Data PortalBCL10 
    Broad Tumor PortalBCL10
    OASIS PortalBCL10 [ Somatic mutations - Copy number]
    Cancer Gene: CensusBCL10 
    Somatic Mutations in Cancer : COSMICBCL10  [overview]  [genome browser]  [tissue]  [distribution]  
    Mutations and Diseases : HGMDBCL10
    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
    LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
    BioMutasearch BCL10
    DgiDB (Drug Gene Interaction Database)BCL10
    DoCM (Curated mutations)BCL10 (select the gene name)
    CIViC (Clinical Interpretations of Variants in Cancer)BCL10 (select a term)
    intoGenBCL10
    NCG5 (London)BCL10
    Cancer3DBCL10(select the gene name)
    Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
    Diseases
    OMIM137245    156240    273300    603517    605027    613024    616098   
    Orphanet10694   
    MedgenBCL10
    Genetic Testing Registry BCL10
    NextProtO95999 [Medical]
    TSGene8915
    GENETestsBCL10
    Huge Navigator BCL10 [HugePedia]
    snp3D : Map Gene to Disease8915
    BioCentury BCIQBCL10
    ClinGenBCL10
    Clinical trials, drugs, therapy
    Chemical/Protein Interactions : CTD8915
    Chemical/Pharm GKB GenePA25299
    Clinical trialBCL10
    Miscellaneous
    canSAR (ICR)BCL10 (select the gene name)
    Probes
    Litterature
    PubMed146 Pubmed reference(s) in Entrez
    GeneRIFsGene References Into Functions (Entrez)
    CoreMineBCL10
    EVEXBCL10
    GoPubMedBCL10
    iHOPBCL10
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

    Search in all EBI   NCBI

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    indexed on : Tue Mar 14 13:36:51 CET 2017

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