CA2

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]

Carbonic anhydrase 2

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.

Angiotensin-activated signaling pathway Source: UniProtKB
Bicarbonate transport Source: Reactome
Carbon dioxide transport Source: GO_Central
Cellular response to fluid shear stress Source: Ensembl
Kidney development Source: Ensembl
Odontogenesis of dentin-containing tooth Source: Ensembl
One-carbon metabolic process Source: GO_Central
Positive regulation of bone resorption Source: Ensembl
Positive regulation of cellular pH reduction Source: Ensembl
Positive regulation of dipeptide transmembrane transport Source: UniProtKB
Positive regulation of osteoclast differentiation Source: Ensembl
Regulation of anion transport Source: UniProtKB
Regulation of intracellular pH Source: UniProtKB
Response to estrogen Source: Ensembl
Response to pH Source: Ensembl
Response to steroid hormone Source: Ensembl
Response to zinc ion Source: Ensembl

Cytoplasm; Cell membrane. Colocalized with SLC26A6 at the surface of the cell membrane in order to form a bicarbonate transport metabolon. Displaced from the cytosolic surface of the cell membrane by PKC in phorbol myristate acetate (PMA)-induced cells.

Osteopetrosis, autosomal recessive 3 (OPTB3): A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB3 is associated with renal tubular acidosis, cerebral calcification (marble brain disease) and in some cases with mental retardation.