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Aliases for BCL10 Gene

Aliases for BCL10 Gene

  • B Cell CLL/Lymphoma 10 2 3
  • CED-3/ICH-1 Prodomain Homologous E10-Like Regulator 3 4
  • Mammalian CARD-Containing Adapter Molecule E10 3 4
  • CARD-Containing Molecule Enhancing NF-Kappa-B 3 4
  • Caspase-Recruiting Domain-Containing Protein 2 3
  • CARD-Containing Apoptotic Signaling Protein 2 3
  • CARD Containing Molecule Enhancing NF-KB 2 3
  • CARD-Containing Proapoptotic Protein 2 3
  • CARD-Like Apoptotic Protein 2 4
  • Cellular Homolog Of VCARMEN 3 4
  • B-Cell CLL/Lymphoma 10 4 5
  • Cellular-E10 3 4
  • CCARMEN 3 4
  • CIPER 3 4
  • C-E10 3 4
  • HCLAP 3 4
  • CLAP 3 4
  • ME10 3 4
  • B-Cell Lymphoma/Leukemia 10 3
  • CARMEN 3
  • Bcl-10 4
  • IMD37 3

External Ids for BCL10 Gene

Previous GeneCards Identifiers for BCL10 Gene

  • GC01M086131
  • GC01M084873
  • GC01M085020
  • GC01M085154
  • GC01M085443
  • GC01M085731
  • GC01M083842

Summaries for BCL10 Gene

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

GeneCards Summary for BCL10 Gene

BCL10 (B Cell CLL/Lymphoma 10) is a Protein Coding gene. Diseases associated with BCL10 include Immunodeficiency 37 and Mesothelioma, Malignant. Among its related pathways are Metabolism of proteins and CLEC7A (Dectin-1) signaling. Gene Ontology (GO) annotations related to this gene include protein kinase binding and transcription factor binding.

UniProtKB/Swiss-Prot for BCL10 Gene

  • Involved in adaptive immune response (PubMed:25365219). 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 (PubMed:18264101).

Gene Wiki entry for BCL10 Gene

Additional gene information for BCL10 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCL10 Gene

Genomics for BCL10 Gene

GeneHancer (GH) Regulatory Elements for BCL10 Gene

Promoters and enhancers for BCL10 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I085273 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 561.4 +0.0 46 6.9 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 SP3 NFYC MEF2D BCL10 LOC646626 C1orf52 DDAH1
GH01I084503 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 11.5 +771.3 771259 4.3 HDGF SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 YY1 SPATA1 GNG5 BCL10 CTBS RPF1 MCOLN2
GH01I085198 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.6 +75.9 75904 4.8 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 POLR2B ZNF213 SYDE2 BCL10 MCOLN2 LOC646626 GC01M085174
GH01I085575 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.8 -303.7 -303711 11.4 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CYR61 DDAH1 ODF2L ZNHIT6 C1orf52 BCL10 ENSG00000272691 ENSG00000282057 GC01P085583
GH01I085296 Enhancer 1.4 Ensembl ENCODE dbSUPER 16.4 -21.2 -21205 3.1 PKNOX1 FOXA2 ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 ZNF213 ZNF207 DDAH1 BCL10 C1orf52 LOC646626 CYR61 GC01P085392
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BCL10 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BCL10 gene promoter:

Genomic Locations for BCL10 Gene

Genomic Locations for BCL10 Gene
chr1:85,265,776-85,277,090
(GRCh38/hg38)
Size:
11,315 bases
Orientation:
Minus strand
chr1:85,731,459-85,742,773
(GRCh37/hg19)

Genomic View for BCL10 Gene

Genes around BCL10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCL10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCL10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCL10 Gene

Proteins for BCL10 Gene

  • Protein details for BCL10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95999-BCL10_HUMAN
    Recommended name:
    B-cell lymphoma/leukemia 10
    Protein Accession:
    O95999
    Secondary Accessions:
    • Q5VUF1

    Protein attributes for BCL10 Gene

    Size:
    233 amino acids
    Molecular mass:
    26252 Da
    Quaternary structure:
    • 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. Forms a complex with CARD14 and MALT1; resulting in the formation of a CBM (CARD14-BCL10-MALT1) complex (PubMed:27113748). 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). Interacts with CARD11 and MALT1; as part of a CBM (CARD11-BCL10-MALT1) complex involved in NF-kappa-B activation.

    Three dimensional structures from OCA and Proteopedia for BCL10 Gene

neXtProt entry for BCL10 Gene

Post-translational modifications for BCL10 Gene

  • Phosphorylated. Phosphorylation results in dissociation from TRAF2 and binding to BIRC2/c-IAP2. Phosphorylated by IKBKB/IKKB.

Other Protein References for BCL10 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BCL10 (Bcl-10)
  • Abcam antibodies for BCL10
  • Cloud-Clone Corp. Antibodies for BCL10

No data available for DME Specific Peptides for BCL10 Gene

Domains & Families for BCL10 Gene

Gene Families for BCL10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for BCL10 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BCL10: view

No data available for UniProtKB/Swiss-Prot for BCL10 Gene

Function for BCL10 Gene

Molecular function for BCL10 Gene

GENATLAS Biochemistry:
CARD containing apoptotic signaling protein,B cell CLL/lymphoma 10,cellular homolog of equine herpesvirus-2 E10 gene,inducing NFKB activation
UniProtKB/Swiss-Prot Function:
Involved in adaptive immune response (PubMed:25365219). 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 (PubMed:18264101).

Phenotypes From GWAS Catalog for BCL10 Gene

Gene Ontology (GO) - Molecular Function for BCL10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 18223652
GO:0003713 transcription coactivator activity IDA 15207693
GO:0005515 protein binding IPI 1040062
GO:0008022 protein C-terminus binding IPI 11053425
GO:0008134 transcription factor binding IPI 15207693
genes like me logo Genes that share ontologies with BCL10: view
genes like me logo Genes that share phenotypes with BCL10: view

Human Phenotype Ontology for BCL10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BCL10 Gene

MGI Knock Outs for BCL10:

miRNA for BCL10 Gene

miRTarBase miRNAs that target BCL10

Clone Products

  • Addgene plasmids for BCL10

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BCL10 Gene

Localization for BCL10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCL10 Gene

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCL10 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5
lysosome 5
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BCL10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001772 immunological synapse IEA --
GO:0005634 nucleus IDA 16280327
GO:0005737 cytoplasm IEA,IDA 11021819
GO:0005764 lysosome IDA 15082780
GO:0005829 cytosol TAS,IEA --
genes like me logo Genes that share ontologies with BCL10: view

Pathways & Interactions for BCL10 Gene

genes like me logo Genes that share pathways with BCL10: view

SIGNOR curated interactions for BCL10 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for BCL10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001783 B cell apoptotic process IEA --
GO:0001843 neural tube closure ISS,IEA 11163238
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0002224 toll-like receptor signaling pathway IC 16831874
GO:0002237 response to molecule of bacterial origin IEP 16831874
genes like me logo Genes that share ontologies with BCL10: view

Drugs & Compounds for BCL10 Gene

(3) Drugs for BCL10 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for BCL10 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BCL10: view

Transcripts for BCL10 Gene

Unigene Clusters for BCL10 Gene

B-cell CLL/lymphoma 10:
Representative Sequences:

Clone Products

  • Addgene plasmids for BCL10

Alternative Splicing Database (ASD) splice patterns (SP) for BCL10 Gene

No ASD Table

Relevant External Links for BCL10 Gene

GeneLoc Exon Structure for
BCL10
ECgene alternative splicing isoforms for
BCL10

Expression for BCL10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BCL10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BCL10 Gene

This gene is overexpressed in Cervix (15.3), Lymph node (8.6), and Blymphocyte (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BCL10 Gene



Protein tissue co-expression partners for BCL10 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BCL10 Gene:

BCL10

SOURCE GeneReport for Unigene cluster for BCL10 Gene:

Hs.193516

mRNA Expression by UniProt/SwissProt for BCL10 Gene:

O95999-BCL10_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for BCL10 Gene

  • Spleen(4.4)
  • Eye(4.1)
  • Blood(2.7)
  • Stomach(2.3)
  • Intestine(2.1)
  • Lymph node(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BCL10 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
Organs:
Head and neck:
  • brain
  • head
Abdomen:
  • spleen
  • stomach
General:
  • blood
  • bone marrow
  • lymph node
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with BCL10: view

No data available for mRNA differential expression in normal tissues for BCL10 Gene

Orthologs for BCL10 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BCL10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BCL10 33 34
  • 99.71 (n)
cow
(Bos Taurus)
Mammalia BCL10 33 34
  • 92.61 (n)
dog
(Canis familiaris)
Mammalia BCL10 33 34
  • 91.99 (n)
mouse
(Mus musculus)
Mammalia Bcl10 33 16 34
  • 83.83 (n)
rat
(Rattus norvegicus)
Mammalia Bcl10 33
  • 82.55 (n)
oppossum
(Monodelphis domestica)
Mammalia BCL10 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCL10 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves BCL10 33 34
  • 69.48 (n)
lizard
(Anolis carolinensis)
Reptilia BCL10 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcl10 33
  • 58.3 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100334750 33
  • 55.15 (n)
bcl10 34
  • 47 (a)
OneToOne
Species where no ortholog for BCL10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BCL10 Gene

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

Paralogs for BCL10 Gene

No data available for Paralogs for BCL10 Gene

Variants for BCL10 Gene

Sequence variations from dbSNP and Humsavar for BCL10 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs112473614 likely-benign, Immunodeficiency 37 85,270,612(-) T/C/G intron_variant
rs12037217 benign, Immunodeficiency 37 85,276,340(-) C/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs121918314 pathogenic, Male germ cell tumor, somatic 85,270,792(-) G/A/C coding_sequence_variant, missense_variant, stop_gained
rs370432633 pathogenic, Malignant tumor of testis 85,267,841(-) G/A coding_sequence_variant, missense_variant
rs387906350 pathogenic, Mucosa-associated lymphoma, Mesothelioma, Male germ cell tumor, somatic 85,267,830(-) AAAAAAA/AAAAAA/AAAAAAAA coding_sequence_variant, frameshift

Structural Variations from Database of Genomic Variants (DGV) for BCL10 Gene

Variant ID Type Subtype PubMed ID
esv34165 CNV loss 18971310
nsv830459 CNV loss 17160897

Variation tolerance for BCL10 Gene

Residual Variation Intolerance Score: 64.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.43; 71.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BCL10 Gene

Human Gene Mutation Database (HGMD)
BCL10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCL10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCL10 Gene

Disorders for BCL10 Gene

MalaCards: The human disease database

(29) MalaCards diseases for BCL10 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 37
  • imd37
mesothelioma, malignant
  • mesom
lymphoma, mucosa-associated lymphoid type
  • malt lymphoma
testicular germ cell tumor
  • tgct
follicular lymphoma 1
  • follicular lymphoma, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
Search BCL10 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BCL10_HUMAN
  • Immunodeficiency 37 (IMD37) [MIM:616098]: A form of primary combined immunodeficiency, a group of disorders characterized by severe recurrent infections, with normal numbers or an absence of T and B lymphocytes, and impaired cellular and humoral immunity. IMD37 is characterized by hypogammaglobulinemia without lymphopenia, but with profoundly reduced memory B cells and memory T cells, and increased numbers of circulating naive lymphocytes. Inheritance is autosomal recessive. {ECO:0000269 PubMed:25365219}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Lymphoma, mucosa-associated lymphoid type (MALTOMA) [MIM:137245]: A subtype of non-Hodgkin lymphoma, originating in mucosa-associated lymphoid tissue. MALT lymphomas occur most commonly in the gastro-intestinal tract but have been described in a variety of extranodal sites including the ocular adnexa, salivary gland, thyroid, lung, thymus, and breast. Histologically, they are characterized by an infiltrate of small to medium-sized lymphocytes with abundant cytoplasm and irregularly shaped nuclei. Scattered transformed blasts (large cells) also are present. Non-malignant reactive follicles are observed frequently. A pivotal feature is the presence of lymphoepithelial lesions, with invasion and partial destruction of mucosal glands and crypts by aggregates of tumor cells. {ECO:0000269 PubMed:9989495}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.

Genatlas disease for BCL10 Gene

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)

Additional Disease Information for BCL10

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BCL10: view

Publications for BCL10 Gene

  1. Bcl10 is involved in t(1;14)(p22;q32) of MALT B cell lymphoma and mutated in multiple tumor types. (PMID: 9989495) Willis TG … Dyer MJ (Cell 1999) 2 3 4 22 58
  2. Negative feedback loop in T cell activation through IkappaB kinase-induced phosphorylation and degradation of Bcl10. (PMID: 17213322) Lobry C … Weil R (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 22 58
  3. Caveolin-1 triggers T-cell activation via CD26 in association with CARMA1. (PMID: 17287217) Ohnuma K … Morimoto C (The Journal of biological chemistry 2007) 3 4 22 58
  4. Association of BCL10 germ line polymorphisms on chromosome 1p with advanced stage testicular germ cell tumor patients. (PMID: 16229939) Inoue T … Habuchi T (Cancer letters 2006) 3 22 44 58
  5. Interchangeable binding of Bcl10 to TRAF2 and cIAPs regulates apoptosis signaling. (PMID: 11466612) Yui D … Tohyama M (Oncogene 2001) 3 4 22 58

Products for BCL10 Gene

  • Addgene plasmids for BCL10

Sources for BCL10 Gene

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