CARD16
Caspase Recruitment Domain Family Member 16
Gene Information Card
| Symbol | CARD16 |
|---|---|
| Full Name | Caspase Recruitment Domain Family Member 16 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q22.3 |
| NCBI Gene ID | 114769 ncbi.nlm.nih.gov/gene/114769 |
| Ensembl ID | ENSG00000149357 |
| UniProt ID | Q5EG05 |
| OMIM ID | 608086 |
| HGNC ID | 17008 |
| Aliases | COP, Pseudo-ICE, CARD-only protein |
Description
CARD16 is a protein-coding gene that encodes a caspase recruitment domain (CARD)-containing protein. It functions as a modulator of apoptosis and inflammatory signaling by interacting with caspases and inflammasome components. The protein acts as a dominant-negative inhibitor of caspase-1 and caspase-4, thereby regulating IL-1β production and pyroptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory bowel disease | CARD16 variants may alter inflammasome regulation, leading to dysregulated IL-1β production | PMID: 25664854 |
| Rheumatoid arthritis | Polymorphisms in CARD16 associated with increased inflammatory cytokine levels | PMID: 26974013 |
| Systemic lupus erythematosus | CARD16 expression changes linked to aberrant apoptosis and immune complex clearance | PMID: 28444304 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 2.3 | Low |
| Spleen | 1.8 | Low |
| Lung | 1.5 | Low |
| Bone marrow | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 | 3.1 | Monocytic cell line |
| Jurkat | 2.5 | T-cell line |
| HEK293 | 1.0 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Alters start codon, potential loss of function |
| c.148C>T | Nonsense | <0.01% | Premature stop, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the CARD domain impair caspase binding and inflammasome regulation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Wild-type CARD16 acts as a dominant-negative inhibitor of caspase-1; mutations disrupting this function may lead to increased inflammasome activity.
View complete mutation data:
Gene Ontology (GO)
| • protein binding (GO:0005515) | • regulation of apoptotic process (GO:0042981) |
| • death effector domain binding (GO:0035877) | • apoptotic process (GO:0006915) |
| • CARD domain binding (GO:0035878) |
Pathways
• Apoptosis (KEGG hsa04210)
• NOD-like receptor signaling pathway (KEGG hsa04621)
• Inflammasome pathway (Reactome R-HSA-844456)
Protein Summary
CARD16 encodes a 229-amino acid protein containing a single N-terminal caspase recruitment domain (CARD). It lacks enzymatic activity and functions as a decoy by binding to caspase-1 and caspase-4 via CARD-CARD interactions, thereby inhibiting their activation and downstream IL-1β processing. The protein is expressed in hematopoietic tissues and modulates inflammatory responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CARD16 Knockout HEK293 Cell Line | EDJ-KQ7453 | Human | 114769 | Details Get a Quote |
| CARD16 Knockout HeLa Cell Line | EDJ-KQ32668 | Human | 114769 | Details Get a Quote |
| CARD16 Knockout A-549 Cell Line | EDJ-KQ66414 | Human | 114769 | Details Get a Quote |
| CARD16 Knockout HCT 116 Cell Line | EDJ-KQ74840 | Human | 114769 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records