Viel M., Leroy C., Hubert D., Fajac I., Bienvenu T.

J. Cyst. Fibros. 7:23-29(2008) GAD 153271 GeneRIF 6340 · Mapped (56)
Not Associated with OTHER: cystic fibrosis; GAD 153271 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator); genetic variants in ENaCgamma (epithelial sodium channel gamma) genes do not modulate disease severity in the majority of CF patients GeneRIF 6340

Morris B., Benjafield A., Ishikawa K., Iawi N.

Hum. Mutat. 17:157-157(2001) GeneRIF 6340 GAD 133973 GAD 133974 · Mapped (6)
Not Associated with CARDIOVASCULAR: hypertension; GAD 133973 GAD 133974 Observational study of gene-disease association. (HuGE Navigator) GeneRIF 6340

Iwai N., Baba S., Mannami T., Katsuya T., Higaki J., Ogihara T., Ogata J.

Hypertension 38:86-89(2001) GeneRIF 6340 GAD 133975 · Mapped (6)
Associated with CARDIOVASCULAR: hypertension; GAD 133975 Observational study of gene-disease association. (HuGE Navigator) GeneRIF 6340

Saxena A., Hanukoglu I., Saxena D., Thompson R.J., Gardiner R.M., Hanukoglu A.

J. Clin. Endocrinol. Metab. 87:3344-3350(2002) GeneRIF 6340 · UniProtKB (3) · Mapped (13)
Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel gamma-subunit gene. GeneRIF 6340

Hiltunen T.P., Hannila-Handelberg T., Petajaniemi N., Kantola I., Tikkanen I., Virtamo J., Gautschi I., Schild L., Kontula K.

J. Hypertens. 20:2383-2390(2002) GeneRIF 6340 · Mapped (6)
GammaENaC Asn530Ser mutation increases channel open probability and is consistent with abnormally high sodium reabsorption in distal nephron. First mutation in extracellular domain of ENaC subunit with increased ENaC activity and Liddle's syndrome. GeneRIF 6340

Reddy M.M., Quinton P.M.

Pflugers Arch. 445:499-503(2003) GeneRIF 6340 · Mapped (51)
Not only are CFTR and ENaC activated together in duct salt absorption but ENaC activation depends on functioning CFTR. GeneRIF 6340

Amasheh S., Barmeyer C., Koch C.S., Tavalali S., Mankertz J., Epple H.J., Gehring M.M., Florian P., Kroesen A.J., Zeitz M. et al.

Gastroenterology 126:1711-1720(2004) GeneRIF 6340 · Mapped (11)
in ulcerative colitis elevated proinflammatory cytokines selectively impair beta- and gamma-ENaC expression which contributes to diarrhea by reducing colonic sodium absorption. GeneRIF 6340

Kamide K., Tanaka C., Takiuchi S., Miwa Y., Yoshii M., Horio T., Kawano Y., Miyata T.

Hypertens. Res. 27:333-338(2004) GeneRIF 6340 · Mapped (11)
Observational study of gene-disease association. (HuGE Navigator); 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. GeneRIF 6340

Snyder P.M., Olson D.R., Kabra R., Zhou R., Steines J.C.

J. Biol. Chem. 279:45753-45758(2004) GeneRIF 6340 · UniProtKB (1) · Mapped (26)
cAMP regulates ENaC in part by phosphorylation and inhibition of Nedd4-2. Moreover Nedd4-2 is a central convergence point for kinase regulation of Na(+) transport. GeneRIF 6340

Araki I., Du S., Kamiyama M., Mikami Y., Matsushita K., Komuro M., Furuya Y., Takeda M.

Urology 64:1255-1260(2004) GeneRIF 6340 · Mapped (16)
The ENaC expressed in the bladder epithelium might be implicated in the mechanosensory transduction in the bladder afferent pathways thereby inducing detrusor instability by outlet obstruction. GeneRIF 6340

Hannila-Handelberg T., Kontula K., Tikkanen I., Tikkanen T., Fyhrquist F., Helin K., Fodstad H., Piippo K., Miettinen H.E., Virtamo J. et al.

BMC Med. Genet. 6:4-4(2005) GeneRIF 6340 · Mapped (11)
Common variants of the ENaC gamma subunit confer susceptibility to human essential hypertension; Observational study of gene-disease association. (HuGE Navigator) GeneRIF 6340

Mo L., Wills N.K.

J. Membr. Biol. 202:21-37(2004) GeneRIF 6340 · Mapped (9)
We conclude that overexpression of ClC-5 specifically amino acids 347-647 can alter the normal translation or trafficking of ENaC and other ion transport proteins by a mechanism that is independent of the chloride conductance of ClC-5. GeneRIF 6340

Maitland-van der Zee A.H., Turner S.T., Schwartz G.L., Chapman A.B., Klungel O.H., Boerwinkle E.

Pharmacogenet. Genomics 15:287-293(2005) GeneRIF 6340 · Mapped (6)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 6340

Turner S.T., Schwartz G.L., Chapman A.B., Boerwinkle E.

Hypertension 46:758-765(2005) GeneRIF 6340 · Mapped (15)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 6340

Ji H.L., Su X.F., Kedar S., Li J., Barbry P., Smith P.R., Matalon S., Benos D.J.

J. Biol. Chem. 281:8233-8241(2006) GeneRIF 6340 · UniProtKB (2) · Mapped (20)
the interactions of delta-ENaC with alpha beta gamma-human epithelial sodium channel subunits could account for heterogeneity of native epithelial channels GeneRIF 6340

Stanke F., Becker T., Cuppens H., Kumar V., Cassiman J.J., Jansen S., Radojkovic D., Siebert B., Yarden J., Ussery D.W. et al.

Hum. Genet. 119:331-343(2006) GeneRIF 6340 · Mapped (20)
SCNN1G is a modulator in Cystic Fibrosis; Observational study of gene-disease association. (HuGE Navigator) GeneRIF 6340

Saxena S.K., Horiuchi H., Fukuda M.

Biochem. Biophys. Res. Commun. 344:651-657(2006) GeneRIF 6340 · Mapped (12)
These observations decisively prove that Rab27a inhibits ENaC function through a complex mechanism that involves GTP/GDP status and protein-protein interactions involving Munc13-4 and SLP-5 effector proteins. GeneRIF 6340

Nagaki K., Yamamura H., Shimada S., Saito T., Hisanaga S., Taoka M., Isobe T., Ichimura T.

Biochemistry 45:6733-6740(2006) GeneRIF 6340 · Mapped (12)
14-3-3 inhibits the interaction between the WW domains of hNedd4-2 and the PY motif of the epithelial Na(+) channel ENaC GeneRIF 6340

Bruns J.B., Carattino M.D., Sheng S., Maarouf A.B., Weisz O.A., Pilewski J.M., Hughey R.P., Kleyman T.R.

J. Biol. Chem. 282:6153-6160(2007) GeneRIF 6340 · Mapped (20)
A synthetic peptide corresponding to the fragment cleaved from the gamma subunit is a reversible inhibitor of endogenous ENaCs in cells; results suggest that multiple proteases cleave ENaC gamma subunits to fully activate the channel. GeneRIF 6340

Zeissig S., Fromm A., Mankertz J., Weiske J., Zeitz M., Fromm M., Schulzke J.D.

Gastroenterology 132:236-248(2007) GeneRIF 6340 · Mapped (18)
Concerted action of short chain fatty acids and corticosteroid hormones is required for induction of ENaC and maintenance of intestinal electrogenic sodium absorption GeneRIF 6340

Wiemuth D., Ke Y., Rohlfs M., McDonald F.J.

Biochem. J. 405:147-155(2007) GeneRIF 6340 · Mapped (16)
Results support a model whereby ubiquitin and clathrin adaptor binding sites act in concert to remove ENaC from the cell surface. GeneRIF 6340

Lu C., Jiang C., Pribanic S., Rotin D.

J. Cyst. Fibros. 6:419-422(2007) GeneRIF 6340 · Mapped (56)
This study found that co-expressed cystic fibrosis transmembrane conductance regulator (CFTR) stabilizes epithelial sodium channel(ENaC) at the plasma membrane suggesting that CFTR regulates ENaC stability not just opening. GeneRIF 6340

Vormfelde S.V., Sehrt D., Toliat M.R., Schirmer M., Meineke I., Tzvetkov M., Nurnberg P., Brockmoller J.

Clin. Pharmacol. Ther. 82:300-309(2007) GeneRIF 6340 · Mapped (26)
Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator) GeneRIF 6340

Busst C.J., Scurrah K.J., Ellis J.A., Harrap S.B.

Hypertension 50:672-678(2007) GeneRIF 6340 · Mapped (6)
Observational study of gene-disease association. (HuGE Navigator); Relatively common polymorphisms in the SCNN1G gene are associated with high systolic blood pressure in the general Australian white population. GeneRIF 6340

Bangel N., Dahlhoff C., Sobczak K., Weber W.M., Kusche-Vihrog K.

J. Cyst. Fibros. 7:197-205(2008) GeneRIF 6340 · UniProtKB (3) · Mapped (9)
alpha- & beta-hnENaC protein was increased in cystic fibrosis tissue; gamma-hnENaC was decreased; Na+ hyperabsorption not caused by hnENaC mutations but by an increase in transcription of hnENaC subunits GeneRIF 6340