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EVA1C  -  eva-1 homolog C (C. elegans)

Homo sapiens

Synonyms: B18, B19, C21orf63, C21orf64, FAM176C, ...
 
 
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Disease relevance of C21orf63

 

Psychiatry related information on C21orf63

 

High impact information on C21orf63

  • The HLA haplotype A24, B18, DRW 4 X 7 was found in several family members, but the association of the disease with the HLA system remains to be established [8].
  • The Cys-to-Ala substitution also attenuated secretion of B18, but the effect of the mutation on B18 secretion was less evident than on B50 [2].
  • Studies of unselected families with one or more affected members suggest that the B18, BfF1 does not necessarily segregate with IDDM phenotype [9].
  • The meaning of this association is not clear, but the linkage of deficiency of C2 with HLA, especially HLA-A10, B18, Dw2, as well as with BfS, suggests a possible linkage to immune response genes [10].
  • Analysis of HLA antigens in these families supported the close association of C2 defiency and HLA-A10 and/or B18, particularly the latter [11].
 

Biological context of C21orf63

  • It is possible that B18-linked complement deficiency could be the basis for such a carrier state [12].
  • Basques show an even higher BfF1 frequency BfF1 is in strong linkage disequilibrium with B18 [13].
  • The population genetics of those microsatellites associated with HLA B18-DR3 was also studied in a random sample of the Basque population [14].
  • The coincidence of increased antigen B18 and Cw4 representation in BH and EH allows us to consider them to be immunogenetic markers or predictors of development of EH [15].
  • In the course of defining the B27 polymorphisms, three and two RFLP, respectively, were also found for the B18 and B44 genes [16].
 

Anatomical context of C21orf63

  • Consistent lysis of B18 bearing cells was only observed with lymphoblastoid cell lines [17].
  • Furthermore, there is a preferential expression of several HLA on human hybridomas (e.g. B51; B15; B18; B35) [18].
  • The interaction of the fusogenic polypeptide segment "B18" from the fertilization protein binding with lipid membranes was investigated by solid state 2H and 31P NMR, and by differential scanning calorimetry [19].
  • C2d has been associated with the LE subset of subacute cutaneous LE (SCLE), the presence of anti-Ro (SSA) antibodies, and the human leukocyte antigen (HLA) types A10, B18, DR2 [20].
  • Earlier reports indicating a significant association between high body fat content and antigens B18, Bw35 or Cw4 were not supported by the results of this study [21].
 

Associations of C21orf63 with chemical compounds

  • The B18 peptide undergoes a coil-helix transition in the presence of TFE, showing a transient tendency to self-associate [22].
  • The C4 deficiency gene(s) segregated with HLA A2, Cw3, B40, BfS on the paternal, and with Aw30,-, B18, BfF1 on the maternal side of the family [23].
  • These are often co-expressed with DRB1*1501 in the ancestral haplotypes (AH) denoted 7.1 (HLA-A3, B7, tumor necrosis factor [TNF]a11b4, DRB1*1501) and 18.1 (HLA-A25, B18, TNFa10b4, DRB 1*1501) [24].
  • Familial data showed that low C3 and/or low B levels are associated with the HLA haplotyes, especially with those containing B18 [6].
  • Binding of the B18 peptide in the presence of Zn(2+) effectively renders the membrane surface more hydrophobic, thus allowing fusion to proceed [25].
 

Analytical, diagnostic and therapeutic context of C21orf63

  • The structure of "B18", an 18-residue fusogenic peptide from the sea urchin fertilization protein bindin, was investigated in several membrane-mimicking environments with circular dichroism and nuclear magnetic resonance spectroscopy [22].
  • Identification of HLA-B35, B53, B18, B5, B78, and B17 alleles by the polymerase chain reaction using sequence-specific primers (PCR-SSP) [26].
  • In an effort to detect individuals homozygous for C2 deficiency, a thorough audit of HLA serotyping results in 3,100 individuals was performed, and a single patient homozygous for the A10, B18 haplotype was identified [27].
  • Stainless steel orthodontic wires with cross-sections of .017 x .025 in (W17) and .018 x .025 in (W18), and brackets with slot sizes of .018 in (B18) and .022 in (B22) were used [28].

References

  1. Hypocomplementaemic multiple sclerosis: heterozygous C2 deficiency linked to HLA A10, B18. Trouillas, P., Berthoux, F., Betuel, H., Boisson, D., Aimard, G., Devic, M. Lancet (1976) [Pubmed]
  2. Functional analysis of disulfide linkages clustered within the amino terminus of human apolipoprotein B. Tran, K., Borén, J., Macri, J., Wang, Y., McLeod, R., Avramoglu, R.K., Adeli, K., Yao, Z. J. Biol. Chem. (1998) [Pubmed]
  3. HLA, islet cell antibodies, and types of diabetes mellitus. Nerup, J., Platz, P., Ryder, L.P., Thomsen, M., Svejgaard, A. Diabetes (1978) [Pubmed]
  4. Serologic studies in a family with heterozygous C2 deficiency. McCarty, D.J., Tan, E.M., Zvaifler, N.J., Koethe, S., Duquesnoy, R.J. Am. J. Med. (1981) [Pubmed]
  5. Monoclonal anti-CEA antibodies in the discrimination between primary pulmonary adenocarcinoma and colon carcinoma metastatic to the lung. Ghoneim, A.H., Brisson, M.L., Fuks, A., Mobasher, A.A., Kreisman, H. Mod. Pathol. (1990) [Pubmed]
  6. Hypocomplementaemic and normocomplementaemic multiple sclerosis. Genetic determinism and association with specific HLA determinants (B18 and B7). Trouillas, P., Betuel, H. J. Neurol. Sci. (1977) [Pubmed]
  7. Neuropathological differences between areas B17 and B18: implications for visual evoked responses in Alzheimer's disease. Armstrong, R.A. Dementia (1994) [Pubmed]
  8. Idiopathic familial cirrhosis and steatosis in adults. Altman, A.R., Gottfried, E.B., Paronetto, F., Lieber, C.S. Gastroenterology (1979) [Pubmed]
  9. Properdin factor B(Bf) allele BfF1 specifies an HLA-B18 diabetogenic haplotype. Dornan, J., Allan, P., Noel, E.P., Larsen, B., Farid, N.R. Diabetes (1980) [Pubmed]
  10. Genetics of complement deficiencies associated with lupus-like syndromes. Schur, P.H. Arthritis Rheum. (1978) [Pubmed]
  11. Hereditary C2 deficiency: diagnosis and HLA gene complex associations. Gibson, D.J., Glass, D., Carpenter, C.B., Schur, P.H. J. Immunol. (1976) [Pubmed]
  12. HLA in familial Hodgkin's disease. Results and a new hypothesis;. Marshall, W.H., Barnard, J.M., Buehler, S.K., Crumley, J., Larsen, B. Int. J. Cancer (1977) [Pubmed]
  13. Bf polymorphism and its relationship with HLA antigens in a sample of the Spanish Population: high BfF1 frequencies. Rodriguez-Córdoba, S., Bootello, A., Arnaiz-Villena, A. Tissue Antigens (1981) [Pubmed]
  14. Strong association between microsatellites and an HLA-B, DR haplotype (B18-DR3): implication for microsatellite evolution. Crouau-Roy, B., Bouzekri, N., Carcassi, C., Clayton, J., Contu, L., Cambon-Thomsen, A. Immunogenetics (1996) [Pubmed]
  15. HLA antigens in borderline and essential hypertension. Titkov, Y.S., Ziskina, R.A., Temirov, A.A., Gybladze, D.V., Bubnova, L.N. Am. J. Hypertens. (1993) [Pubmed]
  16. New polymorphisms of HLA-B27 and other B locus antigens detected by RFLP using a locus-specific probe. Ness, D.B., Grumet, F.C. Hum. Immunol. (1987) [Pubmed]
  17. A human-human hybridoma producing cytotoxic antibody to HLA-B15, cross-reacting with B17, B5, B35 and B18. Hansen, T., Kolstad, A., Thorsby, E., Hannestad, K. Tissue Antigens (1987) [Pubmed]
  18. The significance of HLA studies in human-human hybridomas. Shoenfeld, Y., Zamir, R. Tissue Antigens (1988) [Pubmed]
  19. Interaction of the fusogenic peptide B18 in its amyloid-state with lipid membranes studied by solid state NMR. Grage, S.L., Afonin, S., Grüne, M., Ulrich, A.S. Chem. Phys. Lipids (2004) [Pubmed]
  20. Dapsone is an effective therapy for the skin lesions of subacute cutaneous lupus erythematosus and urticarial vasculitis in a patient with C2 deficiency. Holtman, J.H., Neustadt, D.H., Klein, J., Callen, J.P. J. Rheumatol. (1990) [Pubmed]
  21. HLA system, body fat and fat distribution in children and adults. Bouchard, C., Pérusse, L., Rivest, J., Roy, R., Morissette, J., Allard, C., Thériault, G., Leblanc, C., Tremblay, A. International journal of obesity. (1985) [Pubmed]
  22. Structure analysis of a fusogenic peptide sequence from the sea urchin fertilization protein bindin. Glaser, R.W., Grüne, M., Wandelt, C., Ulrich, A.S. Biochemistry (1999) [Pubmed]
  23. Homozygous deficiency of C4 in a child with a lupus erythematosus syndrome. Kjellman, M., Laurell, A.B., Löw, B., Sjöholm, A.G. Clin. Genet. (1982) [Pubmed]
  24. Susceptibility to multiple sclerosis mediated by HLA-DRB1 is influenced by a second gene telomeric of the TNF cluster. Allcock, R.J., de la Concha, E.G., Fernandez-Arquero, M., Vigil, P., Conejero, L., Arroyo, R., Price, P. Hum. Immunol. (1999) [Pubmed]
  25. The effect of Zn(2+) on the secondary structure of a histidine-rich fusogenic peptide and its interaction with lipid membranes. Binder, H., Arnold, K., Ulrich, A.S., Zschörnig, O. Biochim. Biophys. Acta (2000) [Pubmed]
  26. Identification of HLA-B35, B53, B18, B5, B78, and B17 alleles by the polymerase chain reaction using sequence-specific primers (PCR-SSP). Guttridge, M.G., Burr, C., Klouda, P.T. Tissue Antigens (1994) [Pubmed]
  27. Renal transplantation in a patient with hereditary deficiency of the second component of complement. Zeitz, H.J., Gewurz, A., Jonasson, O., Geis, W.P., Gewurz, H. Clin. Exp. Immunol. (1981) [Pubmed]
  28. Frictional behavior of stainless steel bracket-wire combinations subjected to small oscillating displacements. Willems, G., Clocheret, K., Celis, J.P., Verbeke, G., Chatzicharalampous, E., Carels, C. American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics. (2001) [Pubmed]
 
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