Carbonic Anhydrase II

The carbonic anhydrases (or carbonate dehydratases) are classified as metalloenzyme for its zinc ion prosthetic group and form a family of enzymes that catalyze the rapid interconversion of carbon dioxide and water to bicarbonate and protons, a reversible reaction that takes part in maintaining acid-base balance in blood and other tissues. The carbonic anhydrasekl (CA) family consists of at least 11 enzymatically active members and a few inactive homologous proteins. Carbonic anhydrase II is one of fourteen forms of human α carbonic anhydrases. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Renal carbonic anhydrase allows the reabsorption of sodium ions in the proximal tubule. Carbonic anhydrase II has been shown to interact with Band 3 and Sodium-hydrogen antiporter 1.

Carbonic Anhydrase II Related Areas

Enzyme>>Carbonic Anhydrase>>Carbonic Anhydrase II

Carbonic Anhydrase II Alternative Names

Carbonic Anhydrase II, CA2, CA-II, CAII, Car2 [Homo sapiens]

Carbonic Anhydrase II, Car2, AI131712, CAII, Ca2, Car-2, Ltw-5, Lvtw-5 [Mus musculus]

Summaries for Carbonic Anhydrase II

Entrez Gene summary for Carbonic Anhydrase II:

CA2 is one of several (at least 7) isozymes of carbonic anhydrase. Carbonic anhydrase catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis.

OMIM - description for Carbonic Anhydrase II:

Carbonic anhydrases (CAs) are a family of zinc metalloenzymes. For background information on the CA family, see 114800.

Wikipedia summary for Carbonic Anhydrase II:

The carbonic anhydrases (or carbonate dehydratases) form a family of enzymes that catalyze the rapid interconversion of carbon dioxide and water to bicarbonate and protons (or vice versa), a reversible reaction that occurs rather slowly in the absence of a catalyst.[1] The active site of most carbonic anhydrases contains a zinc ion; they are therefore classified as metalloenzymes. One of the functions of the enzyme in animals is to interconvert carbon dioxide and bicarbonate to maintain acid-base balance in blood and other tissues, and to help transport carbon dioxide out of tissues.

Human Carbonic Anhydrase II Protein General Information

 

• Protein names: Recommended name: Carbonic anhydrase 2
• Sequence length: 260 AA.
• Enzyme regulation: Activated by X-ray, histamine, L-adrenaline, L- and D-phenylalanine, L- and D-histidine, L-His-OMe and beta-Ala-His (carnosine). Competitively inhibited by saccharin, thioxolone, coumarins, 667-coumate, celecoxib (Celebrex), valdecoxib (Bextra), SC-125, SC-560, diclofenac, acetate, azide, bromide, sulfonamide derivatives such as acetazolamide (AZA), methazolamide (MZA), ethoxzolamide (EZA), dichlorophenamide (DCP), brinzolamide, dansylamide, thiabendazole-5-sulfonamide, trifluoromethane sulfonamide and N-hydroxysulfamide, fructose-based sugar sulfamate RWJ-37497, and Foscarnet (phosphonoformate trisodium salt). Repressed strongly by hydrogen sulfide(HS) and weakly by nitrate (NO3). Esterase activity weakly reduced by cyanamide. N-hydroxyurea interfers with zinc binding and inhibit activity.
• Sequence similarities: Belongs to the alpha-carbonic anhydrase family.
• Subunit structure: Interacts with SLC4A4. Interaction with SLC4A7 regulates SLC4A7 transporter activity
• Subcellular location: Cytoplasm.
• Involvement in disease: Defects in CA2 are the cause of osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]; also known as osteopetrosis with renal tubular acidosis, carbonic anhydrase II deficiency syndrome, Guibaud-Vainsel syndrome or marble brain disease. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder 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. Autosomal recessive osteopetrosis is usually associated with normal or elevated amount of non-functional osteoclasts. OPTB3 is associated with renal tubular acidosis, cerebral calcification (marble brain disease) and in some cases with mental retardation.

General information above from UniProt

Function for Carbonic Anhydrase II Protein

UniProtKB:

Essential for bone resorption and osteoclast differentiation By similarity. Reversible hydration of carbon dioxide. Can hydrates cyanamide to urea. Involved in the regulation of fluid secretion into the anterior chamber of the eye

Genatlas:

• Carbonic Anhydrase II reversibly hydrate CO2 in cellular ion transport and homeostasis
• Carbonic Anhydrase II is required for the Ca2+-regulated exocytosis of secretory vesicles
• essential for bone resorption and osteoclast differentiation
• Carbonic Anhydrase II regulate SLC9A1 activity via a phosphorylation-regulated CAII binding site in SLC9A1 tail
• Carbonic Anhydrase IImay be involved in the development of brain

Homology for human Carbonic Anhydrase II

• homolog to murine Car2 (80.8pc)
• homolog to rattus Car2 (80.8pc)

Phenotype Information for Carbonic Anhydrase II

• Gene/Locus: CA2
• Phenotype: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis

Phenotype Information for Carbonic Anhydrase II from OMIM (Online Mendelian Inheritance in Man)

Drugs for Carbonic Anhydrase II

Target	Drug Name	Disease	Drug Status
Carbonic Anhydrase II	Benzthiazide	High blood pressure	Approved
Carbonic Anhydrase II	Cyclothiazide	Edema associated with congestive heart failure	Approved
Carbonic Anhydrase II	Chlorothiazide	Edema associated with congestive heart failure	Approved
Carbonic Anhydrase II	Ethinamate	Insomnia	Approved
Carbonic Anhydrase II	Dorzolamide	Open-angle glaucoma	Approved

Drugs for Carbonic Anhydrase II from TTD (Therapeutic Targets Database)