Gene Gene information from NCBI Gene database.
Entrez ID 8915
Gene name BCL10 immune signaling adaptor
Gene symbol BCL10
Synonyms (NCBI Gene)
CARMENCIPERCLAPIMD37c-E10mE10
Chromosome 1
Chromosome location 1p22.3
Summary 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.
SNPs SNP information provided by dbSNP.
12
SNP ID Visualize variation Clinical significance Consequence
rs121918314 G>A,C Pathogenic Stop gained, missense variant, coding sequence variant
rs370432633 G>A Pathogenic Missense variant, coding sequence variant
rs387906350 A>-,AA Pathogenic Coding sequence variant, frameshift variant
rs387906351 T>-,TT Pathogenic Coding sequence variant, frameshift variant
rs587776630 ->T Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
371
miRTarBase ID miRNA Experiments Reference
MIRT019608 hsa-miR-340-5p Sequencing 20371350
MIRT019968 hsa-miR-375 Microarray 20215506
MIRT028199 hsa-miR-33a-5p Sequencing 20371350
MIRT048426 hsa-miR-100-5p CLASH 23622248
MIRT053389 hsa-miR-106a-5p Luciferase reporter assayWestern blot 23807165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
91
GO ID Ontology Definition Evidence Reference
GO:0001772 Component Immunological synapse IEA
GO:0001783 Process B cell apoptotic process IEA
GO:0001819 Process Positive regulation of cytokine production IEA
GO:0001843 Process Neural tube closure IEA
GO:0001843 Process Neural tube closure ISS 11163238
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603517 989 ENSG00000142867
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95999
Protein name B-cell lymphoma/leukemia 10 (B-cell CLL/lymphoma 10) (Bcl-10) (CARD-containing molecule enhancing NF-kappa-B) (CARD-like apoptotic protein) (hCLAP) (CED-3/ICH-1 prodomain homologous E10-like regulator) (CIPER) (Cellular homolog of vCARMEN) (cCARMEN) (Cell
Protein function Plays a key role in both adaptive and innate immune signaling by bridging CARD domain-containing proteins to immune activation (PubMed:10187770, PubMed:10364242, PubMed:10400625, PubMed:24074955, PubMed:25365219). Acts by channeling adaptive and
PDB 2MB9 , 6BZE , 6GK2 , 8CZD , 8CZO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00619 CARD 18 102 Caspase recruitment domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9989495}.
Sequence
MEPTAPSLTEEDLTEVKKDALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTS
SRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQKITDE
VLKLRNIKLEHLKGLKCS
SCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLEVG
RTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ
Sequence length 233
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  NF-kappa B signaling pathway
C-type lectin receptor signaling pathway
T cell receptor signaling pathway
B cell receptor signaling pathway
Shigellosis
Tuberculosis
  Activation of NF-kappaB in B cells
Downstream TCR signaling
FCERI mediated NF-kB activation
CLEC7A (Dectin-1) signaling
E3 ubiquitin ligases ubiquitinate target proteins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
121
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Carcinoma of colon Pathogenic rs387906351 RCV000023308
Follicular lymphoma Pathogenic rs587776632, rs587776633, rs587776634, rs587776635, rs587776636, rs587776637 RCV000006631
RCV000006632
RCV000006633
RCV000006634
RCV000006635
RCV000006636
Immunodeficiency 37 Pathogenic rs606231305, rs2527119870, rs121918314, rs1660349948 RCV000148013
RCV002755111
RCV003748180
RCV003007445
MALE GERM CELL TUMOR, SOMATIC Pathogenic rs387906350, rs121918314 RCV000023307
RCV000006643
RCV000006644
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BCL10-related disorder Likely benign; Benign rs780017880, rs112473614, rs12037217, rs139473915, rs572902078 RCV003921991
RCV003905454
RCV003915633
RCV003978099
RCV003942969
Germ cell tumor of testis Uncertain significance rs376302558 RCV002478875
Lymphoma, non-Hodgkin, familial Uncertain significance rs376302558 RCV002478875
Mesothelioma, malignant Uncertain significance rs376302558 RCV002478875
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 36334414
Asthma Associate 32900903, 37259023
Behcet Syndrome Associate 26890122
Breast Neoplasms Associate 16280327, 32746451
Carcinogenesis Associate 10886211, 24732096, 26771713
Carcinoma Hepatocellular Associate 34928543
Colorectal Neoplasms Associate 35352485
COVID 19 Associate 36334414
Dementia Inhibit 36334414
Endometriosis Associate 29511377