CA6 Gene - Carbonic Anhydrase 6
Comprehensive gene card for CA6, including genomic data, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | CA6 |
|---|---|
| Full Name | carbonic anhydrase 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.23 |
| NCBI Gene ID | 765 ncbi.nlm.nih.gov/gene/765 |
| Ensembl ID | ENSG00000131620 |
| UniProt ID | P23280 |
| OMIM ID | 114780 |
| HGNC ID | 1382 |
| Aliases | CA-VI, GUSTIN, MGC126562 |
Description
The CA6 gene encodes carbonic anhydrase VI, a zinc metalloenzyme that catalyzes the reversible hydration of carbon dioxide. It is secreted in saliva and other body fluids, playing a role in pH regulation, taste perception, and protection of the oral mucosa. Mutations in CA6 are associated with gustatory dysfunction and may influence susceptibility to dental caries.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gustatory dysfunction (ageusia/hypogeusia) | Impaired carbonic anhydrase activity in saliva disrupts pH buffering and taste receptor function. | OMIM #114780; PubMed studies |
| Dental caries susceptibility | Reduced salivary carbonic anhydrase activity may alter oral pH and enamel remineralization. | ClinVar; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Salivary gland | 107.2 | High |
| Stomach | 12.5 | Medium |
| Pancreas | 8.3 | Medium |
| Kidney | 3.1 | Low |
| Lung | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Salivary gland acinar cells | 107.2 | Primary tissue |
| HPAF-II (pancreatic) | 9.5 | Cancer cell line |
| MCF7 (breast) | 2.1 | Cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of function; associated with taste disorders |
| c.374C>T (p.Thr125Met) | missense | <0.01% | Unknown effect; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting the active site or secretion signal may reduce enzymatic activity, impairing pH regulation in saliva.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • carbonate dehydratase activity (GO:0004089) | • zinc ion binding (GO:0008270) |
| • one-carbon metabolic process (GO:0006730) | • response to stimulus (GO:0050896) |
| • extracellular region (GO:0005576) |
Pathways
• REACT:115794 - Carbonic anhydrase activity
• WP:WP179 - One-carbon metabolism
Protein Summary
Carbonic anhydrase VI (CA-VI) is a secreted zinc metalloenzyme of 308 amino acids (mature form). It catalyzes CO2 hydration to bicarbonate and protons, regulating pH in saliva and other secretions. CA-VI is involved in taste perception, oral health, and protection against acid damage. The protein is glycosylated and forms a homodimer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CA6 Knockout HEK293 Cell Line | EDJ-KQ4181 | Human | 765 | Details Get a Quote |
| ABCA6 Knockout HEK293 Cell Line | EDJ-KQ8017 | Human | 23460 | Details Get a Quote |
| SPACA6 Knockout HEK293 Cell Line | EDJ-KQ10635 | Human | 147650 | Details Get a Quote |
| SPACA6 Knockout A-549 Cell Line | EDJ-KQ38139 | Human | 147650 | Details Get a Quote |
| SPACA6 Knockout HCT 116 Cell Line | EDJ-KQ38140 | Human | 147650 | Details Get a Quote |
| SPACA6 Knockout HeLa Cell Line | EDJ-KQ38141 | Human | 147650 | Details Get a Quote |
| CA6 Knockout HeLa Cell Line | EDJ-KQ52765 | Human | 765 | Details Get a Quote |
| ABCA6 Knockout HeLa Cell Line | EDJ-KQ55744 | Human | 23460 | Details Get a Quote |
| CA6 Knockout A-549 Cell Line | EDJ-KQ61235 | Human | 765 | Details Get a Quote |
| ABCA6 Knockout A-549 Cell Line | EDJ-KQ64242 | Human | 23460 | Details Get a Quote |
| CA6 Knockout HCT 116 Cell Line | EDJ-KQ69733 | Human | 765 | Details Get a Quote |
| ABCA6 Knockout HCT 116 Cell Line | EDJ-KQ72687 | Human | 23460 | Details Get a Quote |
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