CA12 Gene - Carbonic Anhydrase 12
A comprehensive biomedical resource on CA12 gene, its function, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | CA12 |
|---|---|
| Full Name | Carbonic Anhydrase 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q22.2 |
| NCBI Gene ID | 771 ncbi.nlm.nih.gov/gene/771 |
| Ensembl ID | ENSG00000074410 |
| UniProt ID | O43570 |
| OMIM ID | 603263 |
| HGNC ID | 1372 |
| Aliases | CA-XII, CAXII, T18830 |
Description
The CA12 gene encodes carbonic anhydrase 12, a transmembrane enzyme that catalyzes the reversible hydration of carbon dioxide to bicarbonate and protons. This protein plays a key role in pH regulation, ion transport, and fluid secretion. CA12 is overexpressed in several cancers, including renal cell carcinoma and breast cancer, and is implicated in tumor acidification and metastasis. It is also associated with certain genetic disorders such as hyperchlorhidrosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal cell carcinoma, clear cell | Overexpression of CA12 contributes to tumor microenvironment acidification and promotes cell proliferation and metastasis. | NCBI Gene, COSMIC |
| Breast cancer | CA12 is upregulated in estrogen receptor-positive breast cancer and associated with poor prognosis. | NCBI Gene, COSMIC |
| Hyperchlorhidrosis, isolated | Mutations in CA12 cause autosomal recessive hyperchlorhidrosis due to defective sweat gland pH regulation. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Breast | 8.3 | Medium |
| Lung | 6.1 | Medium |
| Colon | 5.4 | Medium |
| Stomach | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression in embryonic kidney cells |
| MCF7 | 9.8 | Breast cancer cell line, estrogen receptor-positive |
| A549 | 7.2 | Lung adenocarcinoma cell line |
| HCT116 | 6.5 | Colorectal carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.349G>A (p.Gly117Arg) | Missense | <0.01% | Loss of function; associated with hyperchlorhidrosis |
| c.497C>T (p.Thr166Met) | Missense | <0.01% | Likely benign; reported in ClinVar |
| c.740G>A (p.Arg247His) | Missense | <0.01% | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Gly117Arg reduce enzyme activity, impairing pH regulation in sweat glands and leading to hyperchlorhidrosis.
Gain of Function (GOF)
No gain-of-function mutations are currently documented in authoritative databases.
Dominant Negative (DN)
No dominant-negative mutations are currently reported.
View complete mutation data：
Gene Ontology (GO)
| • carbonate dehydratase activity | • zinc ion binding |
| • one-carbon metabolic process | • bicarbonate transport |
| • response to hypoxia |
Pathways
• Carbonic anhydrase-mediated pH regulation
• Renal cell carcinoma pathways
Protein Summary
Carbonic anhydrase 12 (CA12) is a transmembrane protein of 354 amino acids with a molecular weight of approximately 39 kDa. It contains a zinc-binding active site and functions as a dimer. The protein is anchored to the plasma membrane via a transmembrane domain and is involved in extracellular pH homeostasis. CA12 is overexpressed in hypoxic tumor environments and is a potential therapeutic target in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CA12 Knockout HEK293 Cell Line | EDJ-KQ4177 | Human | 771 | Details Get a Quote |
| ABCA12 Knockout HEK293 Cell Line | EDJ-KQ8436 | Human | 26154 | Details Get a Quote |
| CA12 Knockout A-549 Cell Line | EDJ-KQ26621 | Human | 771 | Details Get a Quote |
| CA12 Knockout HCT 116 Cell Line | EDJ-KQ26622 | Human | 771 | Details Get a Quote |
| CA12 Knockout HeLa Cell Line | EDJ-KQ26623 | Human | 771 | Details Get a Quote |
| ABCA12 Knockout HeLa Cell Line | EDJ-KQ55887 | Human | 26154 | Details Get a Quote |
| ABCA12 Knockout A-549 Cell Line | EDJ-KQ64378 | Human | 26154 | Details Get a Quote |
| ABCA12 Knockout HCT 116 Cell Line | EDJ-KQ72828 | Human | 26154 | Details Get a Quote |
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