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.

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 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
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