Description: Homo sapiens carbonic anhydrase II (CA2), mRNA. RefSeq Summary (NM_000067): 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]. Transcript (Including UTRs) Position: hg19 chr8:86,376,131-86,393,721 Size: 17,591 Total Exon Count: 7 Strand: + Coding Region Position: hg19 chr8:86,376,311-86,393,018 Size: 16,708 Coding Exon Count: 7
ID:CAH2_HUMAN DESCRIPTION: RecName: Full=Carbonic anhydrase 2; EC=4.2.1.1; AltName: Full=Carbonate dehydratase II; AltName: Full=Carbonic anhydrase C; Short=CAC; AltName: Full=Carbonic anhydrase II; Short=CA-II; FUNCTION: 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. CATALYTIC ACTIVITY: H(2)CO(3) = CO(2) + H(2)O. COFACTOR: Zinc. Can also use cobalt(II) with lower efficiency, but not copper(II), nickel(II) and manganese(II). 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 (NO(3)). Esterase activity weakly reduced by cyanamide. N- hydroxyurea interfers with zinc binding and inhibit activity. BIOPHYSICOCHEMICAL PROPERTIES: Absorption: Abs(max)=550 nm; Note=At pH 7.0. Shows a second maximum at 618 nm; Kinetic parameters: KM=10 mM for CO(2); KM=82 mM for H(2)CO(3); KM=3 mM for 4-nitrophenyl acetate; pH dependence: Optimum pH is 6-8; SUBUNIT: Interacts with SLC4A4. Interaction with SLC4A7 regulates SLC4A7 transporter activity. SUBCELLULAR LOCATION: Cytoplasm. 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. MISCELLANEOUS: Target of drugs used in treatments against glaucoma disorder and breast cancer. SIMILARITY: Belongs to the alpha-carbonic anhydrase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CA2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P00918
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0001822 kidney development GO:0002009 morphogenesis of an epithelium GO:0009268 response to pH GO:0010033 response to organic substance GO:0010043 response to zinc ion GO:0015670 carbon dioxide transport GO:0015701 bicarbonate transport GO:0032230 positive regulation of synaptic transmission, GABAergic GO:0032849 positive regulation of cellular pH reduction GO:0038166 angiotensin-activated signaling pathway GO:0042475 odontogenesis of dentin-containing tooth GO:0043627 response to estrogen GO:0044070 regulation of anion transport GO:0045672 positive regulation of osteoclast differentiation GO:0045780 positive regulation of bone resorption GO:0046903 secretion GO:0048545 response to steroid hormone GO:0051453 regulation of intracellular pH GO:0071498 cellular response to fluid shear stress GO:2001150 positive regulation of dipeptide transmembrane transport GO:2001225 regulation of chloride transport
US Server
