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 2) is a Protein Coding gene. Diseases associated with CA2 include Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis and Osteopetrosis. Among its related pathways are Nitrogen metabolism and Glucose / Energy Metabolism. GO annotations related to this gene include carbonate dehydratase activity and arylesterase 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 (EC 22.214.171.124) 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.