CARD14: Caspase Recruitment Domain Family Member 14
Key Regulator of NF-κB Signaling in Psoriasis and Inflammatory Disorders
Gene Information Card
| Symbol | CARD14 |
|---|---|
| Full Name | Caspase Recruitment Domain Family Member 14 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 79092 ncbi.nlm.nih.gov/gene/79092 |
| Ensembl ID | ENSG00000141527 |
| UniProt ID | Q9BXL6 |
| OMIM ID | 607211 |
| HGNC ID | 16446 |
| Aliases | CARMA2, BIMP2, CARD14 |
Description
CARD14 (Caspase Recruitment Domain Family Member 14) encodes a scaffold protein that activates NF-κB signaling via the Bcl10-MALT1 complex. It is primarily expressed in keratinocytes and plays a critical role in skin inflammation. Gain-of-function mutations are associated with psoriasis and related inflammatory disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Psoriasis 2 (PSORS2) | Gain-of-function mutations enhance NF-κB activation in keratinocytes, promoting inflammation | OMIM #602723; multiple familial studies |
| CARD14-Mediated Psoriasis (CAMPS) | Dominant gain-of-function variants cause early-onset pustular psoriasis | ClinVar; PMID: 22521418 |
| Atopic Dermatitis | Rare CARD14 variants may contribute to altered skin barrier immunity | OMIM #603165; limited evidence |
| Psoriatic Arthritis | Shared genetic risk with psoriasis via CARD14 variants | GWAS studies; PMID: 22190420 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | High |
| Esophagus | 8.3 | Medium |
| Lung | 4.1 | Low |
| Spleen | 2.0 | Low |
| Whole Blood | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Keratinocytes (NHEK) | 15.2 | Primary skin cells |
| HaCaT | 11.8 | Immortalized keratinocyte line |
| A549 | 3.5 | Lung carcinoma |
| HEK293 | 1.2 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.349G>A (p.Gly117Ser) | Missense | Rare | Gain-of-function; associated with familial psoriasis |
| c.413A>C (p.Glu138Ala) | Missense | Rare | Gain-of-function; CAMPS |
| c.526G>C (p.Asp176His) | Missense | Rare | Gain-of-function; PSORS2 |
| c.2458C>T (p.Arg820Trp) | Missense | Rare | Gain-of-function; pustular psoriasis |
Mutation functional classification
Loss of Function (LOF)
Not reported; CARD14 LOF is likely embryonic lethal or compensated.
Gain of Function (GOF)
Common mechanism; mutations in coiled-coil or CARD domain enhance NF-κB signaling.
Dominant Negative (DN)
Not described for CARD14; all pathogenic variants are gain-of-function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NF-kappa B signaling pathway (KEGG hsa04064)
• CARD14-BCL10-MALT1 signaling in keratinocytes
• TNF signaling pathway (Reactome R-HSA-168164)
Protein Summary
CARD14 is a 1,004-amino-acid scaffold protein containing an N-terminal CARD domain, a coiled-coil region, and a C-terminal PDZ-binding motif. It recruits BCL10 and MALT1 to form a signaling complex that activates IKK and NF-κB. Constitutive activation due to gain-of-function mutations drives inflammatory cytokine production in keratinocytes, underlying psoriasis pathogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CARD14 Knockout HEK293 Cell Line | EDJ-KQ546 | Human | 79092 | Details Get a Quote |
| CARD14 Knockout HeLa Cell Line | EDJ-KQ57145 | Human | 79092 | Details Get a Quote |
| CARD14 Knockout A-549 Cell Line | EDJ-KQ65657 | Human | 79092 | Details Get a Quote |
| CARD14 Knockout HCT 116 Cell Line | EDJ-KQ74081 | Human | 79092 | Details Get a Quote |
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