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BCL10 Gene

protein-coding   GIFtS: 65
GCID: GC01M085731

B-Cell CLL/Lymphoma 10

  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 101 2 3     cCARMEN2 3
CARD-Like Apoptotic Protein1 3     CARD-Containing Molecule Enhancing NF-Kappa-B2 3
CARD Containing Molecule Enhancing NF-KB1 2     CED-3/ICH-1 Prodomain Homologous E10-Like Regulator2 3
CARD-Containing Apoptotic Signaling Protein1 2     hCLAP2 3
CARD-Containing Proapoptotic Protein1 2     mE102 3
Caspase-Recruiting Domain-Containing Protein1 2     CARMEN2
Cellular Homolog Of VCARMEN2 3     B-Cell Lymphoma/Leukemia 102
Mammalian CARD-Containing Adapter Molecule E102 3     cellular-E102
CIPER2 3     Bcl-103
CLAP2 3     Cellular-E103
c-E102 3     

External Ids:    HGNC: 9891   Entrez Gene: 89152   Ensembl: ENSG000001428677   OMIM: 6035175   UniProtKB: O959993   

Export aliases for BCL10 gene to outside databases

Previous GC identifers: GC01M086131 GC01M084873 GC01M085020 GC01M085154 GC01M085443 GC01M083842


(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 BCL10 Gene:
This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The
protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis
and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins
including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This
protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT
lymphoma. MALT1 and this protein are thought to synergize in the activation of NF-kappaB, and the deregulation of
either of them may contribute to the same pathogenetic process that leads to the malignancy. (provided by RefSeq,
Jul 2008)

GeneCards Summary for BCL10 Gene:
BCL10 (B-cell CLL/lymphoma 10) is a protein-coding gene. Diseases associated with BCL10 include lymphoma, follicular, somatic, and sezary syndrome, somatic. GO annotations related to this gene include protein kinase binding and enzyme binding.

UniProtKB/Swiss-Prot: BCL10_HUMAN, O95999
Function: Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK. May be an
adapter protein between upstream TNFR1-TRADD-RIP complex and the downstream NIK-IKK-IKAP complex. Is a substrate
for MALT1

Gene Wiki entry for BCL10 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_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BCL10 gene promoter:
         AP-1   ATF-2   RelA   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   HNF-3beta   POU3F2   FAC1   STAT3   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BCL10 promoter sequence
   Search Chromatin IP Primers for BCL10

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BCL10


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

Entrez Gene cytogenetic band: 1p22   Ensembl cytogenetic band:  1p22.3   HGNC cytogenetic band: 1p22

BCL10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BCL10 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M085731:  view genomic region     (about GC identifiers)

Start:
85,731,459 bp from pter      End:
85,742,773 bp from pter
Size:
11,315 bases      Orientation:
minus 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: BCL10_HUMAN, O95999 (See protein sequence)
Recommended Name: B-cell lymphoma/leukemia 10  
Size: 233 amino acids; 26252 Da
Subunit: Found in a membrane raft complex, at least composed of BCL10, CARD11, DPP4 and IKBKB. Self-associates by
CARD-CARD interaction and forms a tight complex with MALT1. Interacts with other CARD-proteins such as CARD9,
CARD10, CARD11 and CARD14. Binds caspase-9 with its C-terminal domain. Interacts with TRAF2 and BIRC2/c-IAP2.
Interacts with PELI2 and SOCS3; these interactions may be mutually exclusive (By similarity)
1 PDB 3D structure from and Proteopedia for BCL10:
2MB9 (3D)    
Secondary accessions: Q5VUF1

Explore the universe of human proteins at neXtProt for BCL10: NX_O95999

Explore proteomics data for BCL10 at MOPED

Post-translational modifications: 

  • Phosphorylated. Phosphorylation results in dissociation from TRAF2 and binding to BIRC2/c-IAP2. Phosphorylated by
    IKBKB/IKKB1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BCL10 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003912.1  
    ENSEMBL proteins: 
     ENSP00000359612  
    Reactome Protein details: O95999

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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:
     IPR011029 DEATH-like_dom
     IPR001315 CARD

    Graphical View of Domain Structure for InterPro Entry O95999

    ProtoNet protein and cluster: O95999

    1 Blocks protein domain: IPB001315 CARD interaction domain

    UniProtKB/Swiss-Prot: BCL10_HUMAN, O95999
    Similarity: Contains 1 CARD domain


    BCL10 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: BCL10_HUMAN, O95999
    Function: Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK. May be an
    adapter protein between upstream TNFR1-TRADD-RIP complex and the downstream NIK-IKK-IKAP complex. Is a substrate
    for MALT1

         Genatlas biochemistry entry for BCL10:
    CARD containing apoptotic signaling protein,B cell CLL/lymphoma 10,cellular homolog of equine herpesvirus-2 E10
    gene,inducing NFKB activation

         Gene Ontology (GO): Selected molecular function terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IPI18223652
    GO:0003713transcription coactivator activity IDA15207693
    GO:0005515protein binding IPI1040062
    GO:0008022protein C-terminus binding IPI11053425
    GO:0008134transcription factor binding IPI15207693
         
    BCL10 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BCL10:
     Increased HPV18 LCR reporter a 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Bcl10):
     cellular  embryogenesis  hematopoietic system  immune system  mortality/aging 
     nervous system 

    BCL10 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for BCL10: Bcl10tm1Mak Bcl10tm1Swm

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BCL10
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BCL10

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BCL10
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BCL10

    miRNA
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    miRTarBase miRNAs that target BCL10:
    hsa-mir-33a-5p (MIRT028199), hsa-mir-375 (MIRT019968), hsa-mir-340-5p (MIRT019608), hsa-mir-100-5p (MIRT048426)

    Block miRNA regulation of human, mouse, rat BCL10 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BCL10 (see all 17):
    hsa-miR-520d-5p hsa-miR-340 hsa-miR-548l hsa-miR-105 hsa-miR-155 hsa-miR-205* hsa-miR-3662 hsa-miR-4326
    SwitchGear 3'UTR luciferase reporter plasmidBCL10 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BCL10

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    (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
    BCL10_HUMAN, O95999: Cytoplasm, perinuclear region. Membrane raft. Note=Appears to have a perinuclear, compact
    and filamentous pattern of expression. Also found in the nucleus of several types of tumor cells. Colocalized
    with DPP4 in membrane rafts
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol5
    lysosome5
    nucleus5
    vacuole5
    plasma membrane4
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001772immunological synapse IEA--
    GO:0005622intracellular ----
    GO:0005634nucleus IDA16280327
    GO:0005737cytoplasm IDA11021819
    GO:0005764lysosome IDA15082780

    BCL10 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 BCL10 About   (see all 22)                                                                                              See pathways by source

    SuperPathContained pathways About
    1B cell receptor signaling pathway (KEGG)
    B cell receptor signaling pathway0.42
    T cell receptor signaling pathway0.38
    BCR signaling pathway0.42
    TCR Signaling Pathway0.36
    2Downstream Signaling Events Of B Cell Receptor (BCR)
    Downstream Signaling Events Of B Cell Receptor (BCR)0.79
    Signaling by the B Cell Receptor (BCR)0.79
    3TCR signaling (REACTOME)
    Downstream TCR signaling0.73
    TCR signaling0.73
    4TCR Signaling (Qiagen)
    PKC-Theta Pathway0.68
    TCR Signaling0.68
    5TCR signaling in naive CD4+ T cells
    TCR signaling in naive CD8+ T cells0.64
    TCR signaling in naive CD4+ T cells0.64

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for BCL10
        Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for BCL10 (see all 6)
        GPCR Pathway
    PI3K Signaling in B-Lymphocyte
    PKC-Theta Pathway
    TCR Signaling
    CD28 Signaling in T-Helper Cell

    3 Cell Signaling Technology (CST) Pathways for BCL10
        Apoptosis and Autophagy
    Lymphocyte Signaling
    NF-kappaB Signaling

    1 GeneGo (Thomson Reuters) Pathway for BCL10
        Immune response T cell receptor signaling pathway

    Selected BioSystems Pathways for BCL10 (see all 6)
        B Cell Receptor Signaling Pathway
    TCR Signaling Pathway
    TCR signaling in naive CD4+ T cells
    Canonical NF-kappaB pathway
    TCR signaling in naive CD8+ T cells

    3 Reactome Pathways for BCL10
        Downstream TCR signaling
    FCERI mediated NF-kB activation
    Activation of NF-kappaB in B cells


    4 Kegg Pathways  (Kegg details for BCL10):
        NF-kappa B signaling pathway
    T cell receptor signaling pathway
    B cell receptor signaling pathway
    Tuberculosis


    BCL10 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BCL10: 
              NFKB Signaling Pathway in human mouse rat
              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat
              Antifungal Response in human mouse rat
              Antibacterial Response in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BCL10

    Selected Interacting proteins for BCL10 (O959991, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MALT1Q9UDY81, 2, 3EBI-958922,EBI-1047372 MINT-7228629 MINT-6177529 MINT-6177625 MINT-8143041 I2D: score=8 
    CARD11Q9BXL71, 2, 3EBI-958922,EBI-7006141 MINT-7228715 MINT-6177529 MINT-8143014 MINT-8143041 I2D: score=6 
    C9orf89Q96LW72, 3MINT-51113 MINT-51106 MINT-51109 MINT-51112 MINT-51104 I2D: score=3 
    IKBKGQ9Y6K92, 3MINT-4787659 I2D: score=6 
    AKT1P317491, 3EBI-958922,EBI-296087 I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 34):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001783B cell apoptotic process IEA--
    GO:0001843neural tube closure ISS11163238
    GO:0002224toll-like receptor signaling pathway IC16831874
    GO:0002237response to molecule of bacterial origin IEP16831874
    GO:0002250adaptive immune response TAS16831874

    BCL10 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 BCL10

    5 Novoseek inferred chemical compound relationships for BCL10 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanylate 47.2 2 11278692 (1), 19538180 (1)
    ionomycin 24.4 4 19538180 (1), 17371994 (1), 17052756 (1)
    lipid 0 7 14673152 (2), 15541657 (1), 17287217 (1), 12154360 (1) (see all 5)
    alanine 0 1 17502353 (1)
    serine 0 1 17502353 (1)



    BCL10 for compounds           About GeneDecksing



    (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 BCL10 gene: 
    NM_003921.4  

    Unigene Cluster for BCL10:

    B-cell CLL/lymphoma 10
    Hs.193516  [show with all ESTs]
    Unigene Representative Sequence: NM_003921
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000370580(uc021opd.1)
    miRNA
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    hsa-miR-520d-5p hsa-miR-340 hsa-miR-548l hsa-miR-105 hsa-miR-155 hsa-miR-205* hsa-miR-3662 hsa-miR-4326
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      QuantiFast Probe-based Assays in human, mouse, rat BCL10

    Additional mRNA sequence: 

    AF057700.1 AF100338.1 AF105066.1 AF127386.1 AF134395.1 AK098790.1 AK291346.1 BC053617.1 
    BX647306.1 EF189176.1 

    9 DOTS entries:

    DT.454130  DT.95372482  DT.70103796  DT.99987237  DT.87005628  DT.121403880  DT.423492  DT.91997479 
    DT.95139454 

    Selected AceView cDNA sequences (see all 83):

    CA420027 BC053617 AI990571 BG393233 AI952930 AF105066 NM_003921 BM988482 
    AI221210 CA426727 AA179518 BU159849 BU621795 BU169446 AF134395 AF127386 
    AA279060 AW183179 AF082283 AI689618 BU676530 AW994909 AI473669 BP355253 

    GeneLoc Exon Structure


    (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 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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    BCL10 expression in normal human tissues (normalized intensities)      BCL10 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    BCL10 Expression
    About this image


    BCL10 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    BCL10 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BCL10 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.193516

    UniProtKB/Swiss-Prot: BCL10_HUMAN, O95999
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BCL10: 
              NFKB Signaling Pathway in human mouse rat
              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat
              Antifungal Response in human mouse rat
              Antibacterial Response in human mouse rat

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    QuantiFast Probe-based Assays in human, mouse, rat BCL10
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCL10

    (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 BCL10 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bcl101 , 5 B cell leukemia/lymphoma 101, 5 83.83(n)1
    90.99(a)1
      3 (71.03 cM)5
    120421  NM_009740.21  NP_033870.11 
     1459243785 
    chicken
    (Gallus gallus)
    Aves BCL101 B-cell CLL/lymphoma 10 69.48(n)
    66.67(a)
      424528  NM_001201487.2  NP_001188416.2 
    lizard
    (Anolis carolinensis)
    Reptilia BCL106
    B-cell CLL/lymphoma 10
    59(a)
    1 ↔ 1
    GL343194.1(10290407-10300815)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia bcl101 B-cell CLL/lymphoma 10 58.3(n)
    52.02(a)
      548494  NM_001015777.2  NP_001015777.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003347501 B-cell lymphoma/leukemia 10-like 55.15(n)
    51.61(a)
      100334750  XM_002660692.2  XP_002660738.1 


    ENSEMBL Gene Tree for BCL10 (if available)
    TreeFam Gene Tree for BCL10 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 BCL10 (see all 327)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs37682351,2,,4
    C,F,HMALT lymphoma4 --85752430(-) AGAAGG/AAACTT 2 /E /G mis1 trp328Minor allele frequency- A:0.07EA NA NS EU 10059
    rs120372171,2,,4
    C,FMALT lymphoma4 --85761078(+) CGGTGC/AGGTGG 2 /A /S mis1 ese36Minor allele frequency- A:0.03NA EA EU 5793
    VAR_0132104
    MALT lymphoma4--see VAR_0132102 K E mis40--------
    VAR_0132184
    MALT lymphoma4--see VAR_0132182 D E mis40--------
    VAR_0132134
    MALT lymphoma4--see VAR_0132132 C R mis40--------
    VAR_0132224
    MALT lymphoma4--see VAR_0132222 L S mis40--------
    VAR_0132254
    Germ cell tumor4--see VAR_0132252 S F mis40--------
    VAR_0132094
    MALT lymphoma4--see VAR_0132092 V E mis40--------
    VAR_0132144
    Germ cell tumor4--see VAR_0132142 R G mis40--------
    VAR_0132214
    MALT lymphoma4--see VAR_0132212 T A mis40--------

    HapMap Linkage Disequilibrium report for BCL10 (85731459 - 85742773 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for BCL10:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830459CNV Loss17160897
    esv34165CNV Loss18971310

    Human Gene Mutation Database (HGMD): BCL10
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BCL10
    DNA2.0 Custom Variant and Variant Library Synthesis for BCL10

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603517   
    OMIM disorders: 137245  613024  273300  156240  
    UniProtKB/Swiss-Prot: BCL10_HUMAN, O95999
  • Note=A chromosomal aberration involving BCL10 is recurrent in low-grade mucosa-associated lymphoid tissue
    (MALT lymphoma). Translocation t(1;14)(p22;q32). Although the BCL10/IgH translocation leaves the coding region of
    BCL10 intact, frequent BCL10 mutations could be attributed to the Ig somatic hypermutation mechanism resulting in
    nucleotide transitions
  • Note=Defects in BCL10 are involved in various types of cancer
  • Mesothelioma, malignant (MESOM) [MIM:156240]: An aggressive neoplasm of the serosal lining of the chest.
    It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other
    regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. Note=The
    gene represented in this entry may be involved in disease pathogenesis

  • Selected diseases for BCL10 (see all 55):    About MalaCards
    lymphoma, follicular, somatic    sezary syndrome, somatic    acinar cell carcinoma    lymphoma, malt, somatic
    male germ cell tumor, somatic    primary cutaneous marginal zone b-cell lymphoma    marginal zone b-cell lymphoma    gastric lymphoma
    mesothelioma, somatic    pancreatic acinar cell adenocarcinoma    peripheral t-cell lymphoma    malt lymphoma
    b-cell lymphomas    overnutrition    central nervous system lymphoma    plasma cell leukemia
    edwards syndrome    testicular germ cell tumor    malignant mesothelioma    diffuse large b-cell lymphoma

    4 diseases from the University of Copenhagen DISEASES database for BCL10:
    Lymphoma     Edwards syndrome     Gallbladder lymphoma     Pancreatic acinar cell adenocarcinoma

    BCL10 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for BCL10 gene (see all 29)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    malt lymphoma 92.6 158 15682443 (8), 11445840 (7), 16545185 (6), 15634591 (5) (see all 57)
    lymphoma b-cell 74.1 17 16784987 (2), 17167822 (2), 16440771 (1), 18346354 (1) (see all 13)
    lymphoma 70.7 60 16310461 (6), 11748643 (5), 10582682 (4), 18346354 (3) (see all 31)
    lymphoma small lymphocytic 59.3 1 16310461 (1)
    pseudolymphoma 50.5 1 18346354 (1)
    somatic mutations 50.2 13 11425462 (3), 11836626 (2), 11605060 (2), 10665648 (2) (see all 7)
    lymphocytic leukemia chronic b-cell 46.8 5 17540779 (1), 18252714 (1), 18550498 (1)
    lymphoma follicular 44.9 2 16310461 (2)
    trisomy 43.7 1 19961773 (1)
    gastric lymphoma 38.3 5 11425462 (3)

    Genatlas disease: BCL10
    B cell/lymphoma 10,of mucosa associated lymphoid tissues (MALT lymphomas),affecting predominantly the gastric
    mucosa,low grade evolving to high grade form with translocation t(1;14)(p22;q32)

    Genetic Association Database (GAD): BCL10
    Human Genome Epidemiology (HuGE) Navigator: BCL10 (6 documents)

    Export disorders for BCL10 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 BCL10 gene, integrated from 10 sources (see all 229):
    (articles sorted by number of sources associating them with BCL10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Bcl10 is involved in t(1;14)(p22;q32) of MALT B cell lymphoma and mutated in multiple tumor types. (PubMed id 9989495)1, 2, 3, 9 Willis T.G.... Dyer M.J.S. (Cell 1999)
    2. Interchangeable binding of Bcl10 to TRAF2 and cIAPs regulates apoptosis signaling. (PubMed id 11466612)1, 2, 9 Yui D.... Tohyama M. (Oncogene 2001)
    3. c-E10 is a caspase-recruiting domain-containing protein that interacts with components of death receptors signaling pathway and activates nuclear factor-kappaB. (PubMed id 10400625)1, 2, 9 Costanzo A.... Vito P. (J. Biol. Chem. 1999)
    4. Negative feedback loop in T cell activation through IkappaB kinase- induced phosphorylation and degradation of Bcl10. (PubMed id 17213322)1, 2, 9 Lobry C.... Weil R. (Proc. Natl. Acad. Sci. U.S.A. 2007)
    5. Inactivating mutations and overexpression of BCL10, a caspase recruitment domain-containing gene, in MALT lymphoma with t(1;14)(p22;q32). (PubMed id 10319863)1, 2, 9 Zhang Q.... Morris S.W. (Nat. Genet. 1999)
    6. Association of BCL10 germ line polymorphisms on chromosome 1p with advanced stage testicular germ cell tumor patients. (PubMed id 16229939)1, 4, 9 Inoue T....Habuchi T. (Cancer Lett. 2006)
    7. Caveolin-1 triggers T-cell activation via CD26 in association with CARMA1. (PubMed id 17287217)1, 2, 9 Ohnuma K.... Morimoto C. (J. Biol. Chem. 2007)
    8. Absence of BCL10 mutations in human malignant mesothelioma. (PubMed id 10380921)1, 2, 9 Apostolou S.... Testa J.R. (Cell 1999)
    9. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (Occup Environ Med 2009)
    10. Common genetic variants in candidate genes and risk of familial lymphoid malignancies. (PubMed id 19573080)1, 4 Liang X.S....Goldin L.R. (Br. J. Haematol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 8915 HGNC: 989 AceView: BCL10 Ensembl:ENSG00000142867 euGenes: HUgn8915
    ECgene: BCL10 Kegg: 8915 H-InvDB: BCL10

    (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 BCL10 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BCL10 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 BCL10 gene:
    Search GeneIP for patents involving BCL10

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



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