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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Carcinoma of colon Pathogenic rs387906351 RCV000023308
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Follicular lymphoma Pathogenic rs587776632, rs587776633, rs587776634, rs587776635, rs587776636, rs587776637 RCV000006631
RCV000006632
RCV000006633
RCV000006634
RCV000006635
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Immunodeficiency 37 Pathogenic rs606231305, rs2527119870, rs121918314, rs1660349948 RCV000148013
RCV002755111
RCV003748180
RCV003007445
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MALE GERM CELL TUMOR, SOMATIC Pathogenic rs387906350, rs121918314 RCV000023307
RCV000006643
RCV000006644
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BCL10-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LYMPHOMA, B-CELL, MARGINAL ZONE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lymphoma, non-Hodgkin, familial Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10886211
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 8625322
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyps Adenomatous Polyposis BEFREE 8625322
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 12153171, 16785131, 17167822, 30474008
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 15827331
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 23530562
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 36334414 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 22072391
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Aplasia Cutis Congenita Aplasia Cutis Congenita BEFREE 23530562
★☆☆☆☆
Found in Text Mining only