Property Summary

NCBI Gene PubMed Count 118
Grant Count 11
Funding $1,315,932.2
PubMed Score 46.73
PubTator Score 63.56

Knowledge Summary

Patent (2,046)

Expression

  Differential Expression (10)

Disease log2 FC p
cystic fibrosis -1.300 0.000
esophageal adenocarcinoma -2.200 0.019
osteosarcoma -1.397 0.000
posterior fossa group A ependymoma 1.500 0.000
non-small cell lung cancer -1.445 0.000
interstitial cystitis -2.100 0.000
lung adenocarcinoma -1.200 0.000
lung carcinoma -1.700 0.000
gastric carcinoma -1.900 0.029
ulcerative colitis -2.000 0.005

Gene RIF (82)

PMID Text
26638596 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].
25900089 Three nonsynonymous amino acid variants in SCNN1B in nonwhite Cystic fibrosis patients with non-diagnostic CFTR genotypes was
25559464 The transcriptional expression of alpha, beta, and gamma subunits of ENaC was elevated in nasal polyp compared to nasal mucosa
25378078 analysis of a novel frameshift mutation in the betaENaC gene in an isolated case of Liddle syndrome
25231509 Suggest that SCNN1B gene has important roles in blood pressure regulation in the Han Chinese population.
25173196 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.
24888492 significant association between the rs3743966 SNP in intron 12 of epithelial sodium channel beta-subunit and essential hypertension
24553299 Suggest that beta-ENaC mediates cytotrophoblast migration and increasing beta-ENaC expression by HO-1 induction enhances migration.
23977235 ENaCbeta but not ENaCalpha expression is significantly lower in severe preeclampsia compared with normal pregnancy.
23594824 WNK4 inhibits ENaC channel activity independently of Nedd4-2-mediated ENaC ubiquitination.
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AA Sequence

MHVKKYLLKGLHRLQKGPGYTYKELLVWYCDNTNTHGPKRIICEGPKKKAMWFLLTLLFAALVCWQWGIF      1 - 70
IRTYLSWEVSVSLSVGFKTMDFPAVTICNASPFKYSKIKHLLKDLDELMEAVLERILAPELSHANATRNL     71 - 140
NFSIWNHTPLVLIDERNPHHPMVLDLFGDNHNGLTSSSASEKICNAHGCKMAMRLCSLNRTQCTFRNFTS    141 - 210
ATQALTEWYILQATNIFAQVPQQELVEMSYPGEQMILACLFGAEPCNYRNFTSIFYPHYGNCYIFNWGMT    211 - 280
EKALPSANPGTEFGLKLILDIGQEDYVPFLASTAGVRLMLHEQRSYPFIRDEGIYAMSGTETSIGVLVDK    281 - 350
LQRMGEPYSPCTVNGSEVPVQNFYSDYNTTYSIQACLRSCFQDHMIRNCNCGHYLYPLPRGEKYCNNRDF    351 - 420
PDWAHCYSDLQMSVAQRETCIGMCKESCNDTQYKMTISMADWPSEASEDWIFHVLSQERDQSTNITLSRK    421 - 490
GIVKLNIYFQEFNYRTIEESAANNIVWLLSNLGGQFGFWMGGSVLCLIEFGEIIIDFVWITIIKLVALAK    491 - 560
SLRQRRAQASYAGPPPTVAELVEAHTNFGFQPDTAPRSPNTGPYPSEQALPIPGTPPPNYDSLRLQPLDV    561 - 630
IESDSEGDAI                                                                631 - 640
//

Text Mined References (125)

PMID Year Title
26772908 2016 Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.
26638596 2015 Liddle's Syndrome: A Case Report.
25900089 2016 Assessment of epithelial sodium channel variants in nonwhite cystic fibrosis patients with non-diagnostic CFTR genotypes.
25559464 2015 Expression and distribution of epithelial sodium channel in nasal polyp and nasal mucosa.
25378078 2015 A novel frameshift mutation of epithelial sodium channel ?-subunit leads to Liddle syndrome in an isolated case.
25231509 2015 Associations of epithelial sodium channel genes with blood pressure: the GenSalt study.
25173196 ?-T594M epithelial sodium channel gene polymorphism and essential hypertension in individuals of Indo-Aryan ancestry in Northern India.
24888492 2014 Association of epithelial sodium channel ?-subunit common polymorphism with essential hypertension families in a Chinese population.
24553299 2014 Heme oxygenase-1 promotes migration and ?-epithelial Na+ channel expression in cytotrophoblasts and ischemic placentas.
24124190 2013 Identification of the SPLUNC1 ENaC-inhibitory domain yields novel strategies to treat sodium hyperabsorption in cystic fibrosis airway epithelial cultures.
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