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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CA6
carbonic anhydrase 6
Chromosome 1 · 1p36.23
NCBI Gene: 765Ensembl: ENSG00000131686.15HGNC: HGNC:1380UniProt: B4DUH8
60PubMed Papers
20Diseases
2Drugs
0Pathogenic Variants
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GO:0005615detection of chemical stimulus involved in sensory perception of bitter tasteextracellular exosomecarbonate dehydratase activityduodenal ulcerepilepsyAbruptio PlacentaeCOVID-19
✦AI Summary

Carbonic anhydrase 6 (CA6), also known as gustin, is a salivary enzyme that catalyzes the reversible hydration of carbon dioxide 1. CA6 plays important roles in oral homeostasis, including taste perception, dental tissue protection against mineral loss, and caries prevention 1. The gene exhibits functional genetic polymorphisms that influence salivary CA6 protein concentration; individuals with the TT genotype at rs2274327 show significantly lower CA6 levels than those with CT or CC genotypes 1. CA6 polymorphisms, particularly rs2274333 (A/G), mechanistically link to fungiform papilla density and PROP taste sensitivity by affecting cell proliferation and metabolic activity 2. The CA6 A/A genotype is associated with increased bitter taste perception 3, though associations with salt taste perception have also been reported 3. Regarding disease relevance, CA6 polymorphisms show modest associations with dental caries susceptibility 4 and combined bitter taste gene variants correlate with altered breast cancer risk 5. Notably, plasma CA6 levels are inversely associated with peripheral artery disease risk in individuals with type 2 diabetes, suggesting protective vascular effects 6. These findings indicate CA6 functions beyond taste, potentially affecting systemic disease susceptibility through mechanisms requiring further investigation.

Sources cited
1
CA6 catalyzes CO2 hydration and plays roles in oral homeostasis, taste, dental protection, and caries prevention; genetic polymorphisms affect salivary CA6 concentration
PMID: 23652931
2
CA6 rs2274333 polymorphism affects PROP sensitivity and fungiform papilla density/morphology through effects on cell proliferation and metabolic activity
PMID: 24040192
3
CA6 polymorphisms associate with bitter taste perception and salt taste perception; rs3737665 shows associations with saltiness perception
PMID: 24534176
4
CA6 rs2274328 polymorphism shows no significant association with dental caries susceptibility in the Zhuang population
PMID: 39212776
5
CA6 genotypes show associations with breast cancer risk when combined with TAS2R38 bitter taste gene variants
PMID: 38687739
6
Plasma CA6 is among the top five proteins inversely associated with peripheral artery disease risk in individuals with type 2 diabetes
PMID: 39749935
Disease Associationsⓘ20
duodenal ulcerOpen Targets
0.44Moderate
epilepsyOpen Targets
0.44Moderate
Abruptio PlacentaeOpen Targets
0.30Weak
COVID-19Open Targets
0.29Weak
malunion fractureOpen Targets
0.28Weak
ovarian dysfunctionOpen Targets
0.28Weak
DNA methylationOpen Targets
0.15Weak
dental cariesOpen Targets
0.10Weak
synovial sarcomaOpen Targets
0.08Suggestive
obstructive sleep apneaOpen Targets
0.07Suggestive
gastric cancerOpen Targets
0.07Suggestive
inflammatory bowel diseaseOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.04Suggestive
Familial hemophagocytic lymphohistiocytosisOpen Targets
0.04Suggestive
pancreatic adenocarcinomaOpen Targets
0.04Suggestive
infectionOpen Targets
0.04Suggestive
severe combined immunodeficiency due to DCLRE1C deficiencyOpen Targets
0.04Suggestive
Burkitts lymphomaOpen Targets
0.03Suggestive
short-limb skeletal dysplasia with severe combined immunodeficiencyOpen Targets
0.03Suggestive
familial apolipoprotein C-II deficiencyOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets2
ETHOXZOLAMIDEApproved
Carbonic anhydrase inhibitor
SULTHIAMEApproved
Carbonic anhydrase inhibitor
epilepsy
Related Genes
CST2Shared pathway100%CST1Shared pathway100%CHST9Protein interaction91%CHST8Protein interaction88%SLC2A5Protein interaction87%CYP24A1Protein interaction81%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
24%
Lung
7%
Ovary
5%
Liver
5%
Heart
0%
Gene Interaction Network
Click a node to explore
CA6CST2CST1CHST9CHST8SLC2A5CYP24A1
PROTEIN STRUCTURE
Preparing viewer…
PDB3FE4 · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.22LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.60–1.22]
RankingsWhere CA6 stands among ~20K protein-coding genes
  • #7,636of 20,598
    Most Researched60
  • #645of 1,025
    FDA-Approved Drug Targets2
  • #12,810of 17,882
    Most Constrained (LOEUF)1.22
Genes detectedCA6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Large-Scale Plasma Proteomics Improves Prediction of Peripheral Artery Disease in Individuals With Type 2 Diabetes: A Prospective Cohort Study.
PMID: 39749935
Diabetes Care · 2025
1.00
2
Pathogenicity and landscape of differential gene expression in mice orally infected with clinical coxsackievirus A6 (CA6).
PMID: 38226810
J Virol · 2024
0.90
3
Effect of genetic polymorphisms in CA6 gene on the expression and catalytic activity of human salivary carbonic anhydrase VI.
PMID: 23652931
Caries Res · 2013
0.80
4
Exploring associations between taste perception, oral anatomy and polymorphisms in the carbonic anhydrase (gustin) gene CA6.
PMID: 24534176
Physiol Behav · 2014
0.70
5
The gustin (CA6) gene polymorphism, rs2274333 (A/G), as a mechanistic link between PROP tasting and fungiform taste papilla density and maintenance.
PMID: 24040192
PLoS One · 2013
0.60