CARD10 Gene (Caspase Recruitment Domain Family Member 10)
Key regulator of NF-kappa-B signaling and BCL10-mediated pathways
Gene Information Card
| Symbol | CARD10 |
|---|---|
| Full Name | Caspase Recruitment Domain Family Member 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 29775 ncbi.nlm.nih.gov/gene/29775 |
| Ensembl ID | ENSG00000100226 |
| UniProt ID | Q9BWT7 |
| OMIM ID | 607209 |
| HGNC ID | 16423 |
| Aliases | CARMA3, BIMP1, CARD-containing MAGUK protein 3 |
Description
CARD10 (Caspase Recruitment Domain Family Member 10) encodes a scaffold protein that contains an N-terminal caspase recruitment domain (CARD), a coiled-coil domain, and a C-terminal MAGUK-like region. It functions as a critical component of the CBM (CARD10-BCL10-MALT1) complex, linking upstream G protein-coupled receptor (GPCR) signals to NF-kappa-B activation. CARD10 is predominantly expressed in immune cells and epithelial tissues, and its dysregulation is implicated in lymphomas, solid tumors, and inflammatory disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diffuse large B-cell lymphoma | CARD10 overexpression or gain-of-function mutations enhance NF-kB signaling, promoting B-cell survival and proliferation. | COSMIC, ClinVar |
| Hepatocellular carcinoma | Somatic mutations in CARD10 (e.g., missense variants) may alter CBM complex assembly, contributing to tumorigenesis. | COSMIC |
| Primary immunodeficiency | Rare loss-of-function variants in CARD10 impair NF-kB activation, leading to defective immune responses. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Lung | 8.3 | Low |
| Liver | 5.1 | Low |
| Bone marrow | 15.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.7 | Embryonic kidney cell line |
| Jurkat | 14.3 | T-cell leukemia line |
| Raji | 18.1 | Burkitt lymphoma B-cell line |
| HepG2 | 6.4 | Hepatocellular carcinoma line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.143G>A (p.Arg48Gln) | Missense | 0.02% | Alters CARD domain, may affect BCL10 binding |
| c.512T>C (p.Leu171Pro) | Missense | 0.01% | Disrupts coiled-coil domain, reduces NF-kB activation |
| c.2140C>T (p.Arg714*) | Nonsense | <0.01% | Truncation, loss of MAGUK domain, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense or frameshift variants that truncate the protein, impairing CBM complex formation and NF-kB signaling.
Gain of Function (GOF)
Missense mutations in the CARD or coiled-coil domains that enhance BCL10 recruitment and constitutive NF-kB activation.
Dominant Negative (DN)
Mutations that produce a truncated protein capable of interfering with wild-type CARD10 function, though not well documented.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NF-kappa B signaling pathway (KEGG: hsa04064)
• CARD10-BCL10-MALT1 complex assembly (Reactome: R-HSA-933541)
• GPCR downstream signaling (Reactome: R-HSA-388396)
Protein Summary
CARD10 is a 1032-amino-acid scaffold protein (UniProt Q9BWT7) with a CARD domain (residues 1–100), a coiled-coil region (residues 150–250), and a MAGUK-like domain (residues 700–1032). It localizes to the cytoplasm and upon GPCR activation, recruits BCL10 and MALT1 to form the CBM complex, leading to IKK phosphorylation and NF-kB nuclear translocation. Post-translational modifications include phosphorylation at Ser-564 and ubiquitination, which modulate complex stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CARD10 Knockout HEK293 Cell Line | EDJ-KQ545 | Human | 29775 | Details Get a Quote |
| CARD10 Knockout A-549 Cell Line | EDJ-KQ18919 | Human | 29775 | Details Get a Quote |
| CARD10 Knockout HCT 116 Cell Line | EDJ-KQ18920 | Human | 29775 | Details Get a Quote |
| CARD10 Knockout HeLa Cell Line | EDJ-KQ18921 | Human | 29775 | Details Get a Quote |
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