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SCNN1B: Wikis


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Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome)
Symbols SCNN1B; ENaCb; ENaCbeta; SCNEB
External IDs OMIM600760 MGI104696 HomoloGene284 GeneCards: SCNN1B Gene
RNA expression pattern
PBB GE SCNN1B 205464 at tn.png
More reference expression data
Species Human Mouse
Entrez 6338 20277
Ensembl ENSG00000168447 ENSMUSG00000030873
UniProt P51168 Q3TP51
RefSeq (mRNA) NM_000336 NM_011325
RefSeq (protein) NP_000327 NP_035455
Location (UCSC) Chr 16:
23.22 - 23.3 Mb
Chr 7:
121.66 - 121.71 Mb
PubMed search [1] [2]

Amiloride-sensitive sodium channel subunit beta is a protein that in humans is encoded by the SCNN1B gene.[1]


See also


SCNN1B has been shown to interact with WWP2[2][3] and NEDD4.[4][2][3]


  1. ^ "Entrez Gene: SCNN1B sodium channel, nonvoltage-gated 1, beta (Liddle syndrome)".  
  2. ^ a b McDonald, Fiona J; Western Andrea H, McNeil John D, Thomas Brittany C, Olson Diane R, Snyder Peter M (Sep. 2002). "Ubiquitin-protein ligase WWP2 binds to and downregulates the epithelial Na(+) channel". Am. J. Physiol. Renal Physiol. (United States) 283 (3): F431-6. doi:10.1152/ajprenal.00080.2002. ISSN 0363-6127. PMID 12167593.  
  3. ^ a b Harvey, K F; Dinudom A, Cook D I, Kumar S (Mar. 2001). "The Nedd4-like protein KIAA0439 is a potential regulator of the epithelial sodium channel". J. Biol. Chem. (United States) 276 (11): 8597–601. doi:10.1074/jbc.C000906200. ISSN 0021-9258. PMID 11244092.  
  4. ^ Farr, T J; Coddington-Lawson S J, Snyder P M, McDonald F J (Feb. 2000). "Human Nedd4 interacts with the human epithelial Na+ channel: WW3 but not WW1 binds to Na+-channel subunits". Biochem. J. (ENGLAND) 345 Pt 3: 503–9. ISSN 0264-6021. PMID 10642508.  

Further reading

  • Alvarez de la Rosa D, Canessa CM, Fyfe GK, Zhang P (2000). "Structure and regulation of amiloride-sensitive sodium channels.". Annu. Rev. Physiol. 62: 573–94. doi:10.1146/annurev.physiol.62.1.573. PMID 10845103.  
  • Rossier BC, Pradervand S, Schild L, Hummler E (2002). "Epithelial sodium channel and the control of sodium balance: interaction between genetic and environmental factors.". Annu. Rev. Physiol. 64: 877–97. doi:10.1146/annurev.physiol.64.082101.143243. PMID 11826291.  
  • Peters KW, Qi J, Johnson JP, et al. (2002). "Role of snare proteins in CFTR and ENaC trafficking.". Pflugers Arch. 443 Suppl 1: S65–9. doi:10.1007/s004240100647. PMID 11845306.  
  • Edelheit O, Hanukoglu I, Gizewska M, et al. (2005). "Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.". Clin. Endocrinol. (Oxf) 62 (5): 547–53. doi:10.1111/j.1365-2265.2005.02255.x. PMID 15853823.  
  • Voilley N, Bassilana F, Mignon C, et al. (1996). "Cloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel.". Genomics 28 (3): 560–5. doi:10.1006/geno.1995.1188. PMID 7490094.  
  • Waldmann R, Champigny G, Bassilana F, et al. (1996). "Molecular cloning and functional expression of a novel amiloride-sensitive Na+ channel.". J. Biol. Chem. 270 (46): 27411–4. PMID 7499195.  
  • Hansson JH, Nelson-Williams C, Suzuki H, et al. (1995). "Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome.". Nat. Genet. 11 (1): 76–82. doi:10.1038/ng0995-76. PMID 7550319.  
  • McDonald FJ, Price MP, Snyder PM, Welsh MJ (1995). "Cloning and expression of the beta- and gamma-subunits of the human epithelial sodium channel.". Am. J. Physiol. 268 (5 Pt 1): C1157–63. PMID 7762608.  
  • Shimkets RA, Warnock DG, Bositis CM, et al. (1994). "Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel.". Cell 79 (3): 407–14. PMID 7954808.  
  • Snyder PM, Price MP, McDonald FJ, et al. (1996). "Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel.". Cell 83 (6): 969–78. PMID 8521520.  
  • Hansson JH, Schild L, Lu Y, et al. (1996). "A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.". Proc. Natl. Acad. Sci. U.S.A. 92 (25): 11495–9. PMID 8524790.  
  • Chang SS, Grunder S, Hanukoglu A, et al. (1996). "Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1.". Nat. Genet. 12 (3): 248–53. doi:10.1038/ng0396-248. PMID 8589714.  
  • Tamura H, Schild L, Enomoto N, et al. (1996). "Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene.". J. Clin. Invest. 97 (7): 1780–4. PMID 8601645.  
  • Firsov D, Schild L, Gautschi I, et al. (1997). "Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: a quantitative approach.". Proc. Natl. Acad. Sci. U.S.A. 93 (26): 15370–5. PMID 8986818.  
  • Gründer S, Firsov D, Chang SS, et al. (1997). "A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel.". EMBO J. 16 (5): 899–907. doi:10.1093/emboj/16.5.899. PMID 9118951.  
  • Pirozzi G, McConnell SJ, Uveges AJ, et al. (1997). "Identification of novel human WW domain-containing proteins by cloning of ligand targets.". J. Biol. Chem. 272 (23): 14611–6. PMID 9169421.  
  • Inoue J, Iwaoka T, Tokunaga H, et al. (1998). "A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel.". J. Clin. Endocrinol. Metab. 83 (6): 2210–3. PMID 9626162.  
  • Persu A, Barbry P, Bassilana F, et al. (1998). "Genetic analysis of the beta subunit of the epithelial Na+ channel in essential hypertension.". Hypertension 32 (1): 129–37. PMID 9674649.  
  • Uehara Y, Sasaguri M, Kinoshita A, et al. (1998). "Genetic analysis of the epithelial sodium channel in Liddle's syndrome.". J. Hypertens. 16 (8): 1131–5. PMID 9794716.  
  • Saxena A, Hanukoglu I, Strautnieks SS, et al. (1998). "Gene structure of the human amiloride-sensitive epithelial sodium channel beta subunit.". Biochem. Biophys. Res. Commun. 252 (1): 208–13. doi:10.1006/bbrc.1998.9625. PMID 9813171.  

External links



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