Aliases for CA2 Gene
External Ids for CA2 Gene
Previous GeneCards Identifiers for CA2 Gene
The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
GeneCards Summary for CA2 Gene
CA2 (Carbonic Anhydrase II) is a Protein Coding gene. Diseases associated with CA2 include osteopetrosis, autosomal recessive 3, with renal tubular acidosis and autoimmune retinopathy. Among its related pathways are Metabolism and Glucose / Energy Metabolism. GO annotations related to this gene include carbonate dehydratase activity. An important paralog of this gene is CA14.
UniProtKB/Swiss-Prot for CA2 Gene
Essential for bone resorption and osteoclast differentiation (By similarity). Reversible hydration of carbon dioxide. Can hydrate cyanamide to urea. Involved in the regulation of fluid secretion into the anterior chamber of the eye. Contributes to intracellular pH regulation in the duodenal upper villous epithelium during proton-coupled peptide absorption. Stimulates the chloride-bicarbonate exchange activity of SLC26A6.
Carbonic anhydrases are zinc-containing enzymes belonging to the lyases family, and are primarily responsible for catalyzing the reversible hydration of carbon dioxide to form bicarbonate (HCO3-) and hydrogen (H+) ions. There are several different carbonic anhydrase isoforms; these can be broadly grouped into cytosolic (CA I, CA II, CA III, CA VII, CA XIII), mitochondrial (CA VA, CA VB), secreted (CA VI) and membrane-associated (CA IV, CA IX, CA XII, CA XIV) carbonic anhydrases. The functions of the remaining carbonic anhydrases are yet to be elucidated. Expression of the membrane-bound carbonic anhydrase, CA IX, has been reported in hypoxic tumors where its activity is linked to promoting survival of tumor cells and aiding cancer progression. This is thought to occur through the carbonic anhyrase-mediated production of bicarbonate ions, which neutralizes the abnormally acidic pH of the extracellular environment induced during hypoxia. Furthermore, as CA IX is a hypoxia- and HIF-1-inducible enzyme, its expression can be used as a biomarker for hypoxic tumors.