Carbonic anhydrase II explained

Carbonic anhydrase II (gene name CA2) is one of sixteen forms of human α carbonic anhydrases.^[1] Carbonic anhydrase catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Renal carbonic anhydrase allows the reabsorption of bicarbonate ions in the proximal tubule.^[2] Loss of carbonic anhydrase activity in bones impairs the ability of osteoclasts to promote bone resorption, leading to osteopetrosis.^[3]

Interactions

Carbonic anhydrase II has been shown to interact with band 3^{[4] [5] [6] [7]} and sodium-hydrogen antiporter 1.^[8]

Further reading

• Sly WS, Hu PY . Human carbonic anhydrases and carbonic anhydrase deficiencies. . Annu. Rev. Biochem. . 64 . 1. 375–401 . 1995 . 7574487 . 10.1146/annurev.bi.64.070195.002111 .
• Kumpulainen T . Immunohistochemical localization of human carbonic anhydrase isoenzyme C. . Histochemistry . 62 . 3 . 271–80 . 1979 . 114507 . 10.1007/BF00508355 . 21606492 .
• Henderson LE, Henriksson D, Nyman PO . Primary structure of human carbonic anhydrase C. . J. Biol. Chem. . 251 . 18 . 5457–63 . 1976 . 10.1016/S0021-9258(17)33081-8 . 823150 . free .
• Hu PY, Roth DE, Skaggs LA . A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries. . Hum. Mutat. . 1 . 4 . 288–92 . 1993 . 1301935 . 10.1002/humu.1380010404 . 28188859 . etal.
• Roth DE, Venta PJ, Tashian RE, Sly WS . Molecular basis of human carbonic anhydrase II deficiency. . Proc. Natl. Acad. Sci. U.S.A. . 89 . 5 . 1804–8 . 1992 . 1542674 . 10.1073/pnas.89.5.1804 . 48541 . 1992PNAS...89.1804R . free .
• Dawson SJ, White LA . Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin. . J. Infect. . 24 . 3 . 317–20 . 1992 . 1602151 . 10.1016/S0163-4453(05)80037-4 .
• Schwartz GJ, Brion LP, Corey HE, Dorfman HD . Case report 668. Carbonic anhydrase II deficiency syndrome (osteopetrosis associated with renal tubular acidosis and cerebral calcification). . Skeletal Radiol. . 20 . 6 . 447–52 . 1991 . 10.1007/BF00191090 . 1925679 . 29176430 .
• Venta PJ, Welty RJ, Johnson TM . Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene. . Am. J. Hum. Genet. . 49 . 5 . 1082–90 . 1991 . 1928091 . 1683243 . etal.
• Venta PJ, Tashian RE . PCR detection of the TAQ1 polymorphism at the CA2 locus. . Nucleic Acids Res. . 18 . 18 . 5585 . 1990 . 1977133 . 10.1093/nar/18.18.5585 . 332284 .
• Sato S, Zhu XL, Sly WS . Carbonic anhydrase isozymes IV and II in urinary membranes from carbonic anhydrase II-deficient patients. . Proc. Natl. Acad. Sci. U.S.A. . 87 . 16 . 6073–6 . 1990 . 2117271 . 10.1073/pnas.87.16.6073 . 54474 . 1990PNAS...87.6073S . free .
• Kaunisto K, Parkkila S, Tammela T . Immunohistochemical localization of carbonic anhydrase isoenzymes in the human male reproductive tract. . Histochemistry . 94 . 4 . 381–6 . 1990 . 2121671 . 10.1007/BF00266444 . 22668787 . etal.
• Backman U, Danielsson B, Wistrand PJ . The excretion of carbonic anhydrase isozymes CA I and CA II in the urine of apparently healthy subjects and in patients with kidney disease. . Scand. J. Clin. Lab. Invest. . 50 . 6 . 627–33 . 1991 . 2123360 . 10.3109/00365519009089180 .
• Forsman C, Behravan G, Osterman A, Jonsson BH . Production of active human carbonic anhydrase II in E. coli. . Acta Chemica Scandinavica B . 42 . 5 . 314–8 . 1989 . 10.3891/acta.chem.scand.42b-0314 . 2850697 . free .
• Venta PJ, Montgomery JC, Hewett-Emmett D, Tashian RE . Comparison of the 5' regions of human and mouse carbonic anhydrase II genes and identification of possible regulatory elements. . Biochim. Biophys. Acta . 826 . 4 . 195–201 . 1986 . 3000449 . 10.1016/0167-4781(85)90006-5. 2027.42/25466 . free .
• Ohlsson A, Cumming WA, Paul A, Sly WS . Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification. . Pediatrics . 77 . 3 . 371–81 . 1986 . 10.1542/peds.77.3.371 . 3081869 . 33477826 .
• Nakai H, Byers MG, Venta PJ . The gene for human carbonic anhydrase II (CA2) is located at chromosome 8q22. . Cytogenet. Cell Genet. . 44 . 4 . 234–5 . 1987 . 3107918 . 10.1159/000132378 . etal.
• Montgomery JC, Venta PJ, Tashian RE, Hewett-Emmett D . Nucleotide sequence of human liver carbonic anhydrase II cDNA. . Nucleic Acids Res. . 15 . 11 . 4687 . 1987 . 3108857 . 10.1093/nar/15.11.4687 . 340889 .
• Murakami H, Marelich GP, Grubb JH . Cloning, expression, and sequence homologies of cDNA for human carbonic anhydrase II. . Genomics . 1 . 2 . 159–66 . 1988 . 3121496 . 10.1016/0888-7543(87)90008-5 . etal.
• Eriksson AE, Jones TA, Liljas A . Refined structure of human carbonic anhydrase II at 2.0 A resolution. . Proteins . 4 . 4 . 274–82 . 1989 . 3151019 . 10.1002/prot.340040406 . 25590322 .
• Eriksson AE, Kylsten PM, Jones TA, Liljas A . Crystallographic studies of inhibitor binding sites in human carbonic anhydrase II: a pentacoordinated binding of the SCN- ion to the zinc at high pH. . Proteins . 4 . 4 . 283–93 . 1989 . 3151020 . 10.1002/prot.340040407 . 25849532 .

Notes and References

1. Frost, S., & McKenna, R. (2014). Carbonic anhydrase : Mechanism, regulation, links to disease, and industrial applications(Subcellular biochemistry). Dordrecht: Springer. doi:10.1007/978-94-007-7359-2
2. Web site: Entrez Gene: CA2 carbonic anhydrase II.
3. Web site: Osteopetrosis. Reference. Genetics Home. Genetics Home Reference. en. 2018-10-31.
4. Sterling . D . Reithmeier R A . Casey J R . December 2001 . A transport metabolon. Functional interaction of carbonic anhydrase II and chloride/bicarbonate exchangers . J. Biol. Chem. . 276 . 51 . 47886–94 . United States. 0021-9258. 11606574 . 10.1074/jbc.M105959200 . free .
5. 10.1074/jbc.273.43.28430 . Vince . J W . Reithmeier R A . October 1998 . Carbonic anhydrase II binds to the carboxyl terminus of human band 3, the erythrocyte C1-/HCO3- exchanger . J. Biol. Chem. . 273 . 43 . 28430–7 . UNITED STATES. 0021-9258. 9774471 . free .
6. 10.1021/bi0015111 . Vince . J W . Carlsson U . Reithmeier R A . November 2000 . Localization of the Cl-/HCO3- anion exchanger binding site to the amino-terminal region of carbonic anhydrase II . Biochemistry . 39 . 44 . 13344–9 . UNITED STATES. 0006-2960. 11063570 .
7. 10.1021/bi992564p . Vince . J W . Reithmeier R A . May 2000 . Identification of the carbonic anhydrase II binding site in the Cl(-)/HCO(3)(-) anion exchanger AE1 . Biochemistry . 39 . 18 . 5527–33 . UNITED STATES. 0006-2960. 10820026 .
8. Li . Xiuju . Alvarez Bernardo . Casey Joseph R . Reithmeier Reinhart A F . Fliegel Larry . September 2002 . Carbonic anhydrase II binds to and enhances activity of the Na+/H+ exchanger . J. Biol. Chem. . 277 . 39 . 36085–91 . United States. 0021-9258. 12138085 . 10.1074/jbc.M111952200 . free .