BCL10 BCL10 immune signaling adaptor

Gene ID: 8915, updated on 11-Apr-2024
Gene type: protein coding
Also known as: CLAP; mE10; CIPER; IMD37; c-E10; CARMEN

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. 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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Germ cell tumor of testis MedGen: C1336708OMIM: 273300GeneReviews: Not available	See labs
Immunodeficiency 37 MedGen: C4015195OMIM: 616098GeneReviews: Not available	See labs
Lymphoma, non-Hodgkin, familial MedGen: C4721532OMIM: 605027GeneReviews: Not available	See labs
Mesothelioma, malignant MedGen: C0345967OMIM: 156240GeneReviews: Not available	See labs
Mucosa-associated lymphoma MedGen: C0242647OMIM: 137245GeneReviews: Not available	See labs

Genomic context

Location:: 1p22.3

Sequence:: Chromosome: 1; NC_000001.11 (85265776..85276632, complement)

Total number of exons:: 4

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for BCL10 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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