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SCNN1B  -  sodium channel, non-voltage-gated 1, beta...

Homo sapiens

 
 
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Disease relevance of SCNN1B

 

High impact information on SCNN1B

 

Biological context of SCNN1B

  • In the SCNN1B gene, we identified three missense mutations, P592S (n=3), T594M (n=2), and E632K (n=1) in a heterozygous state in addition to four synonymous ones, Ile515 (n=1), Ser520 (n=19), Ser533 (n=1), and Thr594 (n=11) [2].
  • Genetic analysis of ENaC in a Chinese family with Liddle's syndrome revealed P616H of SCNN1B coaggregated with the phenotype, while this variant was not detected in 100 unrelated subjects [7].
  • An AvaII PCR/RFLP in an exon of the canine gene for the beta subunit of the amiloride-sensitive sodium channel (SCNN1B) [8].
 

Anatomical context of SCNN1B

  • In conclusion, the IL-2(-/-) mucosa exhibits impaired electroneutral Na(+)-Cl(-) absorption and electrogenic Na(+) transport due to reduced mRNA and protein expression of NHE3 and ENaC beta- and gamma-subunit mRNA [9].
  • The results showed that T lymphocytes express the ENaC gamma subunit mRNA, and B lymphocytes the ENaC beta subunit mRNA [10].
  • Functional expression of these splice variants with hENaC beta and gamma subunits produced loss-of-channel activity in the Xenopus oocyte expression system [11].
 

Other interactions of SCNN1B

  • UC was associated with substantial decreases in the expression of the ENaC beta- and gamma-subunit proteins and mRNAs, whereas the decrease in ENaC alpha-subunit protein detected by immunolocalization was less marked [12].
  • Taken together, these results show that UC results mainly in decreased expression of the apical ENaC beta- and gamma-subunits, as well as the basolateral Na+, K+-ATPase alpha1- and beta1-isoforms [12].
  • ENaC with Liddle's syndrome mutation is also inhibited during activation of CFTR, suggesting that the C-terminus of the ENaC beta-subunit is not important for this functional interrelation [13].

References

  1. Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping. Strautnieks, S.S., Thompson, R.J., Hanukoglu, A., Dillon, M.J., Hanukoglu, I., Kuhnle, U., Seckl, J., Gardiner, R.M., Chung, E. Hum. Mol. Genet. (1996) [Pubmed]
  2. Six missense mutations of the epithelial sodium channel beta and gamma subunits in Japanese hypertensives. Kamide, K., Tanaka, C., Takiuchi, S., Miwa, Y., Yoshii, M., Horio, T., Kawano, Y., Miyata, T. Hypertens. Res. (2004) [Pubmed]
  3. Cytokine-dependent transcriptional down-regulation of epithelial sodium channel in ulcerative colitis. Amasheh, S., Barmeyer, C., Koch, C.S., Tavalali, S., Mankertz, J., Epple, H.J., Gehring, M.M., Florian, P., Kroesen, A.J., Zeitz, M., Fromm, M., Schulzke, J.D. Gastroenterology (2004) [Pubmed]
  4. Epithelial sodium channel and the control of sodium balance: interaction between genetic and environmental factors. Rossier, B.C., Pradervand, S., Schild, L., Hummler, E. Annu. Rev. Physiol. (2002) [Pubmed]
  5. A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel. Gründer, S., Firsov, D., Chang, S.S., Jaeger, N.F., Gautschi, I., Schild, L., Lifton, R.P., Rossier, B.C. EMBO J. (1997) [Pubmed]
  6. Expression of the amiloride-sensitive sodium channel beta subunit gene in human B lymphocytes. Oh, Y., Warnock, D.G. J. Am. Soc. Nephrol. (1997) [Pubmed]
  7. Mutation analysis of SCNN1B in a family with Liddle's syndrome. Wang, W., Zhou, W., Jiang, L., Cui, B., Ye, L., Su, T., Wang, J., Li, X., Ning, G. Endocrine (2006) [Pubmed]
  8. An AvaII PCR/RFLP in an exon of the canine gene for the beta subunit of the amiloride-sensitive sodium channel (SCNN1B). Zhou, T., Nonneman, D., Shibuya, H., Khan, S., Liu, P.C., Johnson, G.S. Anim. Genet. (1998) [Pubmed]
  9. Mechanisms of diarrhea in the interleukin-2-deficient mouse model of colonic inflammation. Barmeyer, C., Harren, M., Schmitz, H., Heinzel-Pleines, U., Mankertz, J., Seidler, U., Horak, I., Wiedenmann, B., Fromm, M., Schulzke, J.D. Am. J. Physiol. Gastrointest. Liver Physiol. (2004) [Pubmed]
  10. Amiloride-sensitive epithelial sodium channel subunits are expressed in human and mussel immunocytes. Ottaviani, E., Franchini, A., Mandrioli, M., Saxena, A., Hanukoglu, A., Hanukoglu, I. Dev. Comp. Immunol. (2002) [Pubmed]
  11. An Alu cassette in the human epithelial sodium channel. Oh, Y.S., Lee, S., Won, C., Warnock, D.G. Biochim. Biophys. Acta (2001) [Pubmed]
  12. Decreased expression of apical Na+ channels and basolateral Na+, K+-ATPase in ulcerative colitis. Greig, E.R., Boot-Handford, R.P., Mani, V., Sandle, G.I. J. Pathol. (2004) [Pubmed]
  13. cAMP-dependent activation of CFTR inhibits the epithelial sodium channel (ENaC) without affecting its surface expression. Konstas, A.A., Koch, J.P., Korbmacher, C. Pflugers Arch. (2003) [Pubmed]
 
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