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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CAPS
calcyphosine
Chromosome 19 · 19p13.3
NCBI Gene: 828Ensembl: ENSG00000105519.18HGNC: HGNC:1487UniProt: A0A384NYV7
32PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolvesiclecalcium ion bindingintracellular signal transductionandrogenetic alopecianeoplasmhepatocellular carcinomacolorectal carcinoma
✦AI Summary

CAPS (calcyphosine) is a calcium-binding protein localized to the cytosol and vesicles that plays a role in intracellular signal transduction [GO Annotations]. However, the provided PubMed abstracts do not contain direct information about calcyphosine protein function. The abstracts primarily address CAPS as an acronym for cryopyrin-associated periodic syndrome, a rare autoinflammatory disorder caused by gain-of-function mutations in the NLRP3 gene, not the CAPS protein itself 12. In CAPS disease, mutant NLRP3 leads to aberrant inflammasome activation and excessive IL-1β secretion, causing systemic inflammation affecting skin, joints, and the central nervous system 13. Recent mechanistic studies reveal that PIEZO-mediated mechanotransduction activates the NLRP3 inflammasome through KCNN4-dependent potassium efflux, and this pathway is particularly dysregulated in cells carrying CAPS-causing NLRP3 mutations 4. Additionally, HSP90β chaperone complex activity is essential for NLRP3 autoactivation in CAPS 5. Current therapeutic strategies targeting IL-1 or inflammasome components have significantly improved outcomes for CAPS patients 3. To provide an accurate functional summary of the calcyphosine protein itself, additional literature specifically addressing calcyphosine's molecular mechanisms would be necessary.

Sources cited
1
CAPS is an autoinflammatory disorder caused by gain-of-function NLRP3 mutations leading to inappropriate inflammasome activation and IL-1β release
PMID: 31077002
2
NLRP3 inflammasome serves as an intracellular sensor driving IL-1 and IL-18 mediated inflammation in CAPS
PMID: 38146057
3
PIEZO mechanotransduction activates NLRP3 inflammasome through KCNN4 in CAPS-causing NLRP3 mutants
PMID: 38134241
4
HSP90β-SGT1 chaperone complex is crucial for NLRP3 autoinflammasome activation in CAPS
PMID: 38416826
5
IL-1 targeted therapies like rilonacept have improved quality of life for CAPS patients
PMID: 20074281
Disease Associationsⓘ20
androgenetic alopeciaOpen Targets
0.23Weak
neoplasmOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.09Suggestive
gliomaOpen Targets
0.08Suggestive
cancerOpen Targets
0.05Suggestive
Miyoshi myopathyOpen Targets
0.04Suggestive
cholangiocarcinomaOpen Targets
0.04Suggestive
carcinomaOpen Targets
0.03Suggestive
lung adenocarcinomaOpen Targets
0.03Suggestive
infectionOpen Targets
0.02Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.02Suggestive
systemic lupus erythematosusOpen Targets
0.02Suggestive
squamous cell carcinomaOpen Targets
0.02Suggestive
acanthosis nigricansOpen Targets
0.02Suggestive
viral diseaseOpen Targets
0.02Suggestive
ependymomaOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
endometrioid carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MYZAPShared pathway100%LRRC69Shared pathway100%DCDC2CShared pathway100%LRRC18Shared pathway100%ASB18Shared pathway100%LRRC30Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
87%
Lung
75%
Ovary
73%
Brain
45%
Heart
23%
Gene Interaction Network
Click a node to explore
CAPSMYZAPLRRC69DCDC2CLRRC18ASB18LRRC30
PROTEIN STRUCTURE
Preparing viewer…
PDB3E3R · 2.65 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.46LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.97 [0.67–1.46]
RankingsWhere CAPS stands among ~20K protein-coding genes
  • #11,478of 20,598
    Most Researched32
  • #14,919of 17,882
    Most Constrained (LOEUF)1.46
Genes detectedCAPS
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
KCNN4 links PIEZO-dependent mechanotransduction to NLRP3 inflammasome activation.
PMID: 38134241
Sci Immunol · 2023
1.00
2
CAPS and NLRP3.
PMID: 31077002
J Clin Immunol · 2019
0.90
3
Rilonacept--CAPS and beyond.
PMID: 20074281
Ann N Y Acad Sci · 2009
0.80
4
HSP90β controls NLRP3 autoactivation.
PMID: 38416826
Sci Adv · 2024
0.70
5
Disease association of cyclase-associated protein (CAP): Lessons from gene-targeted mice and human genetic studies.
PMID: 35150966
Eur J Cell Biol · 2022
0.60