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Gene Review

CDAN2  -  congenital dyserythropoietic anemia, type II

Homo sapiens

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Disease relevance of CDAN2


High impact information on CDAN2


Chemical compound and disease context of CDAN2


Biological context of CDAN2

  • Neither deficiency of CD44 nor absence of Colton antigens are general features of CDA because erythrocytes from patients with CDA I, CDA II, CDA III, and two other unclassified CDAs had normal expression of CD44 and normal Colton blood group phenotypes [11].
  • The parasite was found to invade HEMPAS Variant II-gal- erythrocytes at a 30% lower rate through two life cycles, as shown by microscopic evaluation of invasion and by [3H]hypoxanthine incorporation into parasite [5].
  • 2. In CDA II and, to a lesser extent, in CDA I, the in vitro endogenous phosphorylation of band 2 + 2.1 was sharply reduced [12].
  • Unexpectedly, she had the same microsatellite assortments around the CDAN2 alleles as her three sisters with CDA II [13].
  • Suppression of CDA II expression in a homozygote [13].

Anatomical context of CDAN2

  • The aim of the present study was to investigate a possibility that heterozygosity with respect to CDAN2 gene in healthy carriers could be detected by analysis of erythrocyte membrane glycoconjugates [14].
  • These observations suggest that band 3s cluster before they are incorporated into the plasma membranes of HEMPAS erythrocytes [15].
  • The results strongly suggest that biosynthesis of Asn-linked oligosaccharide chains in HEMPAS hepatocytes is disturbed [16].
  • Based on studies of cultures of BFU-E, similar conclusions were previously made for CDA II [17].
  • Congenital dyserythropoietic anaemia type II (HEMPAS): characterization of aberrant intracellular organelles by immunogold electron microscopy [18].

Associations of CDAN2 with chemical compounds

  • Fast-atom bombardment mass spectrometry analysis of G.K.'s erythrocyte glycopeptides detected a series of high mannose-type oligosaccharides, which were not detected in erythrocyte N-glycans of normal cells or of other HEMPAS cases: The former contains polylactosaminoglycans and the latter contains hybrid-type oligosaccharides [19].
  • The results of these experiments have demonstrated that regulation of both the C3 convertase of the alternative pathway and the membrane attack complex of complement by HEMPAS erythrocytes is aberrant [3].
  • Freshly drawn blood samples (normal and HEMPAS Variant II-gal-) were separately incubated with P. falciparum from mannitol-synchronized cultures [5].
  • These characteristics suggest that HEMPAS glycan has the nature of macroglycolipid [20].
  • Congenital dyserythropoietic anaemia, types I and II: aberrant pattern of erythrocyte membrane proteins in CDA II, as revealed by two-dimensional polyacrylamide gel electrophoresis [21].

Other interactions of CDAN2


Analytical, diagnostic and therapeutic context of CDAN2


  1. Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search. Gasparini, P., Miraglia del Giudice, E., Delaunay, J., Totaro, A., Granatiero, M., Melchionda, S., Zelante, L., Iolascon, A. Am. J. Hum. Genet. (1997) [Pubmed]
  2. Hydrops fetalis-associated congenital dyserythropoietic anemia treated with intrauterine transfusions and bone marrow transplantation. Remacha, A.F., Badell, I., Pujol-Moix, N., Parra, J., Muñiz-Diaz, E., Ginovart, G., Sardà, M.P., Hernández, A., Moliner, E., Torrent, M. Blood (2002) [Pubmed]
  3. Aberrant regulation of complement by the erythrocytes of hereditary erythroblastic multinuclearity with a positive acidified serum lysis test (HEMPAS). Tomita, A., Parker, C.J. Blood (1994) [Pubmed]
  4. HEMPAS disease: genetic defect of glycosylation. Fukuda, M.N. Glycobiology (1990) [Pubmed]
  5. Polylactosamines are not obligate receptors for invasion of Plasmodium falciparum malaria as shown in HEMPAS variant II-gal- erythrocytes. Dhume, S.T., Adams-Burton, C.R., Shumak, K.H., Laine, R.A. Glycobiology (1994) [Pubmed]
  6. Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II. Fukuda, M.N., Masri, K.A., Dell, A., Luzzatto, L., Moremen, K.W. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  7. The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum. Alloisio, N., Texier, P., Denoroy, L., Berger, C., Miraglia del Giudice, E., Perrotta, S., Iolascon, A., Gilsanz, F., Berger, G., Guichard, J. Blood (1996) [Pubmed]
  8. Accumulation of glycolipids containing N-acetylglucosamine in erythrocyte stroma of patients with congenital dyserythropoietic anemia type II (HEMPAS). Joseph, K.C., Gockerman, J.P. Biochem. Biophys. Res. Commun. (1975) [Pubmed]
  9. Carbohydrate-deficient glycoprotein syndrome type II. An autosomal recessive N-acetylglucosaminyltransferase II deficiency different from typical hereditary erythroblastic multinuclearity, with a positive acidified-serum lysis test (HEMPAS). Charuk, J.H., Tan, J., Bernardini, M., Haddad, S., Reithmeier, R.A., Jaeken, J., Schachter, H. Eur. J. Biochem. (1995) [Pubmed]
  10. Synergistic effect of cell differential agent-II and arsenic trioxide on induction of cell cycle arrest and apoptosis in hepatoma cells. Liu, J.W., Tang, Y., Shen, Y., Zhong, X.Y. World J. Gastroenterol. (2003) [Pubmed]
  11. A novel form of congenital dyserythropoietic anemia associated with deficiency of erythroid CD44 and a unique blood group phenotype [In(a-b-), Co(a-b-)]. Parsons, S.F., Jones, J., Anstee, D.J., Judson, P.A., Gardner, B., Wiener, E., Poole, J., Illum, N., Wickramasinghe, S.N. Blood (1994) [Pubmed]
  12. Alterations of globin chain synthesis and of red cell membrane proteins in congenital dyserythropoietic anemia I and II. Alloisio, N., Jaccoud, P., Dorleac, E., Morle, L., Philippe, N., Margueritte, G., Bryon, P.A., Delaunay, J. Pediatr. Res. (1982) [Pubmed]
  13. Suppression of CDA II expression in a homozygote. Beauchamp-Nicoud, A., Schischmanoff, P.O., Alloisio, N., Boivin, P., Parsons, S.F., Mielot, F., Tchernia, G., Legrand, A., Miraglia Del Giudice, E., Gasparini, P., Iolascon, A., Wickramasinghe, S.N., Delaunay, J. Br. J. Haematol. (1999) [Pubmed]
  14. Heterozygosity of CDAN II (HEMPAS) gene may be detected by the analysis of erythrocyte membrane glycoconjugates from healthy carriers. Zdebska, E., Mendek-Czajkowska, E., Ploski, R., Woêniewicz, B., Koscielak, J. Haematologica (2002) [Pubmed]
  15. Anomalous clustering of underglycosylated band 3 in erythrocytes and their precursor cells in congenital dyserythropoietic anemia type II. Fukuda, M.N., Klier, G., Yu, J., Scartezzini, P. Blood (1986) [Pubmed]
  16. Incompletely processed N-glycans of serum glycoproteins in congenital dyserythropoietic anaemia type II (HEMPAS). Fukuda, M.N., Gaetani, G.F., Izzo, P., Scartezzini, P., Dell, A. Br. J. Haematol. (1992) [Pubmed]
  17. Congenital dyserythropoietic anaemia type I: absence of clonal expression in the nuclear abnormalities of cultured erythroblasts. Vainchenker, W., Guichard, J., Bouguet, J., Breton-Gorius, J. Br. J. Haematol. (1980) [Pubmed]
  18. Congenital dyserythropoietic anaemia type II (HEMPAS): characterization of aberrant intracellular organelles by immunogold electron microscopy. Fukuda, M.N., Klier, G., Scartezzini, P. Br. J. Haematol. (1987) [Pubmed]
  19. Defective glycosylation of erythrocyte membrane glycoconjugates in a variant of congenital dyserythropoietic anemia type II: association of low level of membrane-bound form of galactosyltransferase. Fukuda, M.N., Masri, K.A., Dell, A., Thonar, E.J., Klier, G., Lowenthal, R.M. Blood (1989) [Pubmed]
  20. Defect in glycosylation of erythrocyte membrane proteins in congenital dyserythropoietic anaemia type II (HEMPAS). Fukuda, M.N., Papayannopoulou, T., Gordon-Smith, E.C., Rochant, H., Testa, U. Br. J. Haematol. (1984) [Pubmed]
  21. Congenital dyserythropoietic anaemia, types I and II: aberrant pattern of erythrocyte membrane proteins in CDA II, as revealed by two-dimensional polyacrylamide gel electrophoresis. Anselstetter, V., Horstmann, H.J., Heimpel, H. Br. J. Haematol. (1977) [Pubmed]
  22. Short report: erythrocyte membranes from a patient with congenital dyserythropoietic anaemia type I (CDA-I) show identical, although less pronounced, glycoconjugate abnormalities to those from patients with CDA-II (HEMPAS). Zdebska, E., Woźniewicz, B., Adamowicz-Salach, A., Kościelak, J. Br. J. Haematol. (2000) [Pubmed]
  23. Structural and functional consequences of an N-glycosylation mutation (HEMPAS) affecting human erythrocyte membrane glycoproteins. Kameh, H., Landolt-Marticorena, C., Charuk, J.H., Schachter, H., Reithmeier, R.A. Biochem. Cell Biol. (1998) [Pubmed]
  24. Congenital dyserythropoietic anemias: epidemiology, clinical significance, and progress in understanding their pathogenesis. Heimpel, H. Ann. Hematol. (2004) [Pubmed]
  25. Effect of CDA-II, urinary preparation, on lipofuscin, lipid peroxidation and antioxidant systems in young and middle-aged rat brain. Lin, W.C., Wu, Y.W., Lai, T.Y., Liau, M.C. Am. J. Chin. Med. (2001) [Pubmed]
  26. Decreased glycosylation of band 3 and band 4.5 glycoproteins of erythrocyte membrane in congenital dyserythropoietic anaemia type II. Scartezzini, P., Forni, G.L., Baldi, M., Izzo, C., Sansone, G. Br. J. Haematol. (1982) [Pubmed]
  27. Successful treatment of iron overload with phlebotomies in two siblings with congenital dyserythropoietic anemia--type II (CDA-II). Chrob??k, L. Acta medica (Hradec Kr??lov??) / Universitas Carolina, Facultas Medica Hradec Kr??lov?? (2006) [Pubmed]
  28. Proliferation kinetics of bone marrow cells in congenital dyserythropoietic anemia type II. Ucci, G., Riccardi, A., Dörmer, P., Cazzola, M., Danova, M. Blut (1985) [Pubmed]
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