Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8915
Gene name Gene Name - the full gene name approved by the HGNC.
BCL10 immune signaling adaptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BCL10
Synonyms (NCBI Gene) Gene synonyms aliases
CARMEN, CIPER, CLAP, IMD37, c-E10, mE10
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p22.3
Summary Summary of gene provided in NCBI Entrez 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.
SNPs SNP information provided by dbSNP.
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.
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 assay, Western blot 23807165
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603517 989 ENSG00000142867
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Immunodeficiency immunodeficiency 37 rs121918314, rs606231305 N/A
Follicular lymphoma follicular lymphoma rs587776634, rs587776635, rs587776636, rs587776637, rs587776632, rs587776633 N/A
Lymphoblastic Leukemia T-cell acute lymphoblastic leukemia rs387906351 N/A
Mesothelioma mesothelioma rs387906350, rs387906351 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Associations from Text Mining Disease 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