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Gene Review

BSND  -  barttin CLCNK-type chloride channel...

Homo sapiens

Synonyms: BART, Barttin, DFNB73
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Disease relevance of BSND

  • A gene locus of a fourth variant of aBS called BSND, which in contrast to the other forms is associated with sensorineural deafness (SND) and renal failure, has been mapped to chromosome 1p [1].
  • A new distinct group in Bartter syndrome accompanied by sensorineural deafness (BSND) has been identified among the IBS patients [2].
  • However, the clinical feature in the patient lacking the characteristic symptoms of IBS such as polyhydramnios, premature labor, or severe salt loss in neonatal period contrasts with that of the typical BSND patients described so far in the literature [2].
  • At least two (Cockayne-Touraine and Bart) of the three subtypes of dominant dystrophic epidermolysis bullosa seem to represent different forms of expression of the same gene defect [3].
  • Candidate sequences were suggested by mapping a region of unmethylated DNA in EBV around the BART promoter followed by in vivo footprinting the promoter in the C666-1 nasopharyngeal carcinoma cell line, which expresses BART RNAs [4].

High impact information on BSND


Chemical compound and disease context of BSND


Biological context of BSND

  • The down-regulation of ClC-Ka/barttin by Nedd4-2 was abolished by elimination of the PY motif in barttin [6].
  • Nearly 60% of all individuals reaching mating age on "St. Bart" never contribute to the gene pool of succeeding generations [7].
  • The 489-base pair BART open reading frame encodes a novel 163-amino acid protein with a predicted molecular mass of 18,822 Da [8].
  • This alteration results in a missense mutation, G47R, which has been previously shown to abolish the stimulatory effect on the subunit barttin of the ClC-Kb channel [9].
  • The latter also had -alpha mutation on the other chromosome, giving rise to the genotype alpha cs alpha/-alpha, which produced high Hb Bart. The gene frequency for alpha cs in the Thai calculated from a total of 406 cord blood studied in Bangkok was found to be approximately 0.008 [10].

Anatomical context of BSND


Associations of BSND with chemical compounds

  • ARL2 and BART enter mitochondria and bind the adenine nucleotide transporter [13].
  • In addition, we summarize the results obtained with other inhibitors of the enzyme; for instance, polyhydroxy-substituted benzohydroxamic acid derivatives, a promising group of inhibitors of ribonucleotide reductase that was synthesized by Bart van'T Riet and investigated by our group [14].
  • Brine shrimp lethality-directed fractionation of the 95% EtOH extract of the powdered, dried berries of Serenoa repens (Bart.) Small (saw-palmetto) (Palmae) led to the isolation of two monoacylglycerides, 1-monolaurin (1) and 1-monomyristin (2) [15].
  • Selective enzymatic amplification of the alpha 2-globin gene and allele-specific hybridization for Hb CS gene provided accurate diagnosis of Hb Constant Spring. We have used this approach to detect the alpha cs mutation in the cord blood that contained all four alpha-globin genes but had Hb Bart on electrophoresis [10].
  • Tonofilament deficiency, found in one family with congenital skin defects, was classified as EB Bart, and in one family a deficiency in one enzyme of collagen synthesis, galactosylhydroxylysine glucosyltransferase activity in skin and serum, was found to correlate significantly with severity of EB simplex Köbner (VI) [16].

Regulatory relationships of BSND

  • CONCLUSION: ClC-Ka/barttin channels are regulated by SGK1 and SGK3, which may thus participate in the regulation of transport in kidney and inner ear [6].
  • RESULTS: Expression of ClC-Ka/barttin induced a slightly inwardly rectifying current that was significantly decreased upon coexpression of Nedd4-2, but not the catalytically inactive mutant C938SNedd4-2 [6].

Other interactions of BSND

  • Regulation of CLC-Ka/barttin by the ubiquitin ligase Nedd4-2 and the serum- and glucocorticoid-dependent kinases [6].
  • New information about the physiological regulation of renal ClC proteins has implicated the Nedd4 ubiquitin ligases and serum and glucocorticoid-inducible kinases in controlling functional levels of ClC-5 and ClC-K/barttin in renal cells [17].

Analytical, diagnostic and therapeutic context of BSND


  1. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Birkenhäger, R., Otto, E., Schürmann, M.J., Vollmer, M., Ruf, E.M., Maier-Lutz, I., Beekmann, F., Fekete, A., Omran, H., Feldmann, D., Milford, D.V., Jeck, N., Konrad, M., Landau, D., Knoers, N.V., Antignac, C., Sudbrak, R., Kispert, A., Hildebrandt, F. Nat. Genet. (2001) [Pubmed]
  2. Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin. Miyamura, N., Matsumoto, K., Taguchi, T., Tokunaga, H., Nishikawa, T., Nishida, K., Toyonaga, T., Sakakida, M., Araki, E. J. Clin. Endocrinol. Metab. (2003) [Pubmed]
  3. Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds. Gruis, N.A., Bavinck, J.N., Steijlen, P.M., van der Schroeff, J.G., van Haeringen, A., Happle, R., Mariman, E., van Beersum, S.E., Uitto, J., Vermeer, B.J. J. Invest. Dermatol. (1992) [Pubmed]
  4. Updated Epstein-Barr virus (EBV) DNA sequence and analysis of a promoter for the BART (CST, BARF0) RNAs of EBV. de Jesus, O., Smith, P.R., Spender, L.C., Elgueta Karstegl, C., Niller, H.H., Huang, D., Farrell, P.J. J. Gen. Virol. (2003) [Pubmed]
  5. Barttin modulates trafficking and function of ClC-K channels. Scholl, U., Hebeisen, S., Janssen, A.G., Müller-Newen, G., Alekov, A., Fahlke, C. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  6. Regulation of CLC-Ka/barttin by the ubiquitin ligase Nedd4-2 and the serum- and glucocorticoid-dependent kinases. Embark, H.M., Böhmer, C., Palmada, M., Rajamanickam, J., Wyatt, A.W., Wallisch, S., Capasso, G., Waldegger, P., Seyberth, H.W., Waldegger, S., Lang, F. Kidney Int. (2004) [Pubmed]
  7. Genetic implications of mating structure in a Caribbean isolate. Leslie, P.W., Morrill, W.T., Dyke, B. Am. J. Hum. Genet. (1981) [Pubmed]
  8. The ARF-like 2 (ARL2)-binding protein, BART. Purification, cloning, and initial characterization. Sharer, J.D., Kahn, R.A. J. Biol. Chem. (1999) [Pubmed]
  9. Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families. García-Nieto, V., Flores, C., Luis-Yanes, M.I., Gallego, E., Villar, J., Claverie-Martín, F. Pediatr. Nephrol. (2006) [Pubmed]
  10. Hemoglobin constant spring in Bangkok: molecular screening by selective enzymatic amplification of the alpha 2-globin gene. Thonglairoam, V., Winichagoon, P., Fucharoen, S., Tanphaichitr, V.S., Pung-amritt, P., Embury, S.H., Wasi, P. Am. J. Hematol. (1991) [Pubmed]
  11. A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity. Jeck, N., Waldegger, P., Doroszewicz, J., Seyberth, H., Waldegger, S. Kidney Int. (2004) [Pubmed]
  12. Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene. Hayama, A., Rai, T., Sasaki, S., Uchida, S. Histochem. Cell Biol. (2003) [Pubmed]
  13. ARL2 and BART enter mitochondria and bind the adenine nucleotide transporter. Sharer, J.D., Shern, J.F., Van Valkenburgh, H., Wallace, D.C., Kahn, R.A. Mol. Biol. Cell (2002) [Pubmed]
  14. The enzyme ribonucleotide reductase: target for antitumor and anti-HIV therapy. Szekeres, T., Fritzer-Szekeres, M., Elford, H.L. Critical reviews in clinical laboratory sciences. (1997) [Pubmed]
  15. Biologically active acylglycerides from the berries of saw-palmetto (Serenoa repens). Shimada, H., Tyler, V.E., McLaughlin, J.L. J. Nat. Prod. (1997) [Pubmed]
  16. Epidermolysis bullosa in Finland. Clinical features, morphology and relation to collagen metabolism. Kero, M. Acta dermato-venereologica. Supplementum. (1984) [Pubmed]
  17. Molecular physiology of renal ClC chloride channels/transporters. Sile, S., Vanoye, C.G., George, A.L. Curr. Opin. Nephrol. Hypertens. (2006) [Pubmed]
  18. Expression of the chloride channel CLC-K in human airway epithelial cells. Mummery, J.L., Killey, J., Linsdell, P. Can. J. Physiol. Pharmacol. (2005) [Pubmed]
  19. Expression of Viral MicroRNAs in Epstein-Barr Virus-Associated Gastric Carcinoma. Kim, d.o. .N., Chae, H.S., Oh, S.T., Kang, J.H., Park, C.H., Park, W.S., Takada, K., Lee, J.M., Lee, W.K., Lee, S.K. J. Virol. (2007) [Pubmed]
  20. Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): report of ten cases and review of the literature. Küster, W., Lenz, W., Kääriäinen, H., Majewski, F. Am. J. Med. Genet. (1988) [Pubmed]
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