Recombinant Human Amiloride-sensitive sodium channel subunit beta (SCNN1B), partial

1. No association was found between single nucleotide polymorphism rs12447134 of sodium channel, nonvoltage-gated 1, beta protein (SCNN1B) gene with the onset of disease hypertension. PMID: 29419876
2. The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations PMID: 28708422
3. hENaC incorporating the Liddle-mutated beta-subunit lacks one or more PKC phosphorylation sites, thereby significantly reducing the inhibitory effect of PKC on Na(+) channel activity, whereas hENaC incorporating Liddle-mutated gamma-subunits remains as susceptible to PKC as wild-type hENaC. PMID: 26759146
4. deltabetagamma-ENaC is inhibited by CFTR but activated by cyclic AMP. PMID: 27941075
5. Results identify SCNN1B as a tumor-suppressive function that triggers UPR in gastric cancer cells, with implications for its potential clinical applications as a survival biomarker in gastric cancer patients. PMID: 28202509
6. These results indicated a significant association between EH and SCNN1B methylation, which was affected by age, gender and antihypertensive therapy. PMID: 27840946
7. Three nonsynonymous amino acid variants in SCNN1B in nonwhite Cystic fibrosis patients with non-diagnostic CFTR genotypes was PMID: 25900089
8. These results do not suggest an important role for the T594M variant of the ENaC gene contributing to either the development or severity of hypertension in subjects of Indo-Aryan ancestry. PMID: 25173196
9. causative mutation for Liddle's syndrome (LS) in this patient was identified to be a novel frameshift mutation. DNA sequencing resulted in exon 13 of SCNN1B gene: SCNN1B NM_000336.2:c.1 724_1730dupGGCCCAC [p.Pro5 75Argfs*17]. PMID: 26638596
10. analysis of a novel frameshift mutation in the betaENaC gene in an isolated case of Liddle syndrome PMID: 25378078
11. Suggest that SCNN1B gene has important roles in blood pressure regulation in the Han Chinese population. PMID: 25231509
12. significant association between the rs3743966 SNP in intron 12 of epithelial sodium channel beta-subunit and essential hypertension PMID: 24888492
13. Suggest that beta-ENaC mediates cytotrophoblast migration and increasing beta-ENaC expression by HO-1 induction enhances migration. PMID: 24553299
14. ENaCbeta but not ENaCalpha expression is significantly lower in severe preeclampsia compared with normal pregnancy. PMID: 23977235
15. The R563Q SCNN1beta variant is strongly associated with hypertension in urban areas in South Africa. PMID: 22895453
16. study reports an adolescent with Liddle syndrome caused by a novel missense mutation, P614L, in the PY motif of the ENaC beta subunit. This missense mutation was found in 6 members of the adolescent's family as well PMID: 22809657
17. analysis of eight extracellular domain residues in human beta- and gammaENaC that are required for regulation by acidic pH PMID: 23060445
18. these data suggests that miR-16 upregulates ENaC, a major sodium channel involved in resolution of pulmonary edema in acute lung injury. PMID: 22940131
19. Family study of hypertension caused by Liddle syndrome revealed a heterozygous mutation c.C1852T (p.Pro618Ser) in the SCNN1B gene. PMID: 21956615
20. Breathing pattern is progressively altered in betaENaC-transgenic mice, likely reflecting airflow limitation due to airway mucus obstruction. PMID: 21700000
21. variants of ENaC subunits A,B,G may contribute to the variation of BP response to dietary sodium intake PMID: 21562341
22. The R563Q mutation of beta-ENaC is associated with hypertension within affected kindreds, but does not usually cause the full Liddle's syndrome phenotype. PMID: 21107496
23. a SNP in SCNN1B was significantly associated with lower systolic and diastolic blood pressure in physically active Chinese. PMID: 21654856
24. heterozygous C to T mutation at codon 617 in exon 13 of SCNN1B in the proband and in all of the members of the maternal lineage submitted to genetic analysis PMID: 21525970
25. Characterization of the epithelial sodium channel delta-subunit in human nasal epithelium. PMID: 19520916
26. Genotypes of the betaENaC gene have little influence on blood pressure level in the Japanese population. PMID: 11863256
27. cloned and characterized the 5' end of the human beta-ENaC gene and identified alternate promoters that determine basal expression of separate transcripts PMID: 11934701
28. Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel beta-subunit gene. PMID: 12107247
29. homozygous mutation in the promoter region of betaENaC leads to pseudohypoaldosteronism type I, the first description of a mutation in the regulatory regions of an ENaC subunit leading to a clinical phenotype PMID: 12204893
30. Frameshift mutation of beta subunit caused by single cytosine insertion at codon 595, introducing new stop codon at 605 and deleting last 34 amino acids from normally encoded protein. PMID: 12473861
31. R563Q, a new variant of the beta epithelial sodium channel, is associated with low-renin, low-aldosterone hypertension. Only a minority of individuals with the R563Q allelle fully express the Liddle's syndrome phenotype. PMID: 12714866
32. No support for an important role for the T594M variant of the ENaC gene contributing to either the development or severity of hypertension in subjects of African ancestry. PMID: 14553964
33. in ulcerative colitis, elevated proinflammatory cytokines selectively impair beta- and gamma-ENaC expression, which contributes to diarrhea by reducing colonic sodium absorption. PMID: 15188166
34. The roles of these missense mutations in the SCNN1B or SCNN1G gene identified in hypertensive patients are not clear in the pathogenesis of hypertension and the regulation of electrolytes. PMID: 15198480
35. Common variants of the ENaC beta subunit confer susceptibility to human essential hypertension. PMID: 15661075
36. concluded that the T594M allele does not contribute significantly to blood pressure in blacks and does not predict a significantly superior response to amiloride therapy PMID: 16432044
37. SCNN1B is a modulator in Cystic fibrosis. PMID: 16463024
38. P616H mutation may be the underlying cause for the signs and symptoms of Liddle's syndrome. PMID: 16943574
39. Concerted action of short chain fatty acids and corticosteroid hormones is required for induction of ENaC and maintenance of intestinal electrogenic sodium absorption PMID: 17241874
40. both mouse and human mammary cells express all ENaC subunits, and they are regulated by steroid hormones in a temporal and cell-specific manner both in culture and in vivo PMID: 17510235
41. genetic variants in ENaCbeta (epithelial sodium channel beta) genes do not modulate disease severity in the majority of CF patients PMID: 17560176
42. We have identified a polymorphic GT short tandem repeat, which is present in the Chilean population. Biochemical analysis showed a possible linkage between this polymorphic region and low renin hypertension. PMID: 17586416
43. We have shown a modest sized but highly significant effect of common genetic variation in the SCNN1B gene on plasma potassium PMID: 18184758
44. A novel point mutation in epithelial sodium channel beta subunit, causing a substitution of a leucine residue for the second proline residue of the conserved PY motif (PPP x Y) of the beta subunit was identified in the proband PMID: 18398334
45. Several variants in ENaCbeta and gamma genes might be deleterious for ENaC function and lead to bronchiectasis. PMID: 18507830
46. SCNN1B is hypermethylated in renal cell carcinoma. PMID: 18639284
47. Alpha-, beta- and gamma-ENaC messenger RNAs are detected in amiloride-sensitive BeWo trophoblast cells. PMID: 18665318
48. A Thai family with Liddle's syndrome caused by a novel P615H missense mutation in the proline-rich domain of the SCNN1B gene coding for the beta-subunit of ENaC. PMID: 19344079

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HGNC: 10600

OMIM: 177200

KEGG: hsa:6338

STRING: 9606.ENSP00000345751

UniGene: Hs.414614