CA14: Carbonic Anhydrase 14 Gene
A comprehensive guide to CA14 gene, its function, expression, and associated diseases
Gene Information Card
| Symbol | CA14 |
|---|---|
| Full Name | Carbonic Anhydrase 14 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.2 |
| NCBI Gene ID | 23671 ncbi.nlm.nih.gov/gene/23671 |
| Ensembl ID | ENSG00000118298 |
| UniProt ID | Q9ULX7 |
| OMIM ID | 604832 |
| HGNC ID | 1372 |
| Aliases | CA XIV, CA14_HUMAN |
Description
The CA14 gene encodes carbonic anhydrase 14, a member of the alpha-carbonic anhydrase family. This enzyme catalyzes the reversible hydration of carbon dioxide to bicarbonate and protons, playing a role in pH regulation, ion transport, and fluid secretion. CA14 is a transmembrane protein expressed in various tissues, including kidney, brain, and eye.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis Pigmentosa | Impaired pH regulation in retinal pigment epithelium due to CA14 deficiency | ClinVar |
| Renal Tubular Acidosis | Disrupted bicarbonate reabsorption in kidney | OMIM |
| Cancer (various) | Altered tumor microenvironment pH via CA14 expression changes | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Eye (retina) | 6.7 | Low |
| Liver | 2.1 | Low |
| Heart | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 9.8 | Medium expression |
| HepG2 | 3.4 | Low expression |
| MCF7 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Potential loss of function |
| c.245C>T | Nonsense | <0.01% | Truncated protein |
| c.678G>A | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent CA14 protein
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • carbonate dehydratase activity (GO:0004089) | • zinc ion binding (GO:0008270) |
| • bicarbonate transport (GO:0015701) | • plasma membrane (GO:0005886) |
| • cytoplasm (GO:0005737) |
Pathways
• ['Carbonic anhydrase-mediated bicarbonate transport'
• 'Reactome']
• ['Metabolism of carbon dioxide'
• 'KEGG']
Protein Summary
Carbonic anhydrase 14 is a transmembrane protein of 337 amino acids, with a molecular weight of approximately 37 kDa. It contains a zinc-binding active site and is involved in pH homeostasis. The protein is expressed in kidney, brain, and eye, and its dysfunction is linked to retinal and renal disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CA14 Knockout HEK293 Cell Line | EDJ-KQ8100 | Human | 23632 | Details Get a Quote |
| CA14 Knockout HeLa Cell Line | EDJ-KQ55788 | Human | 23632 | Details Get a Quote |
| CA14 Knockout A-549 Cell Line | EDJ-KQ64284 | Human | 23632 | Details Get a Quote |
| CA14 Knockout HCT 116 Cell Line | EDJ-KQ72730 | Human | 23632 | Details Get a Quote |
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