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Amiloride-sensitive sodium channel subunit gamma (Epithelial Na( ) channel subunit gamma) (ENaCG) (Gamma-ENaC) (Gamma-NaCH) (Nonvoltage-gated sodium channel 1 subunit gamma) (SCNEG)

 SCNNG_HUMAN             Reviewed;         649 AA.
P51170; P78437; Q6PCC2; Q93023; Q93024; Q93025; Q93026; Q93027;
Q96TD2;
01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
30-MAY-2006, sequence version 4.
03-JUL-2019, entry version 189.
RecName: Full=Amiloride-sensitive sodium channel subunit gamma;
AltName: Full=Epithelial Na(+) channel subunit gamma;
Short=ENaCG;
Short=Gamma-ENaC;
AltName: Full=Gamma-NaCH;
AltName: Full=Nonvoltage-gated sodium channel 1 subunit gamma;
AltName: Full=SCNEG;
Name=SCNN1G;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBUNIT, AND SUBCELLULAR
LOCATION.
TISSUE=Lung;
PubMed=7490094; DOI=10.1006/geno.1995.1188;
Voilley N., Bassilana F., Mignon C., Merscher S., Mattei M.-G.,
Carle G.F., Lazdunski M., Barbry P.;
"Cloning, chromosomal localization, and physical linkage of the beta
and gamma subunits (SCNN1B and SCNN1G) of the human epithelial
amiloride-sensitive sodium channel.";
Genomics 28:560-565(1995).
[2]
NUCLEOTIDE SEQUENCE [MRNA], VARIANTS TRP-178; PRO-502 AND SER-614, AND
SUBUNIT.
TISSUE=Kidney;
PubMed=7762608;
McDonald F.J., Snyder P.M., Price M.P., Welsh M.J.;
"Cloning and expression of the beta- and gamma-subunits of the human
epithelial sodium channel.";
Am. J. Physiol. 268:C1157-C1163(1995).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT PRO-502.
PubMed=12107247; DOI=10.1210/jc.87.7.3344;
Saxena A., Hanukoglu I., Saxena D., Thompson R.J., Gardiner R.M.,
Hanukoglu A.;
"Novel mutations responsible for autosomal recessive multisystem
pseudohypoaldosteronism and sequence variants in epithelial sodium
channel alpha-, beta-, and gamma-subunit genes.";
J. Clin. Endocrinol. Metab. 87:3344-3350(2002).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Placenta;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 1-105; 218-269; 306-392;
433-463 AND 499-515, AND VARIANT PRO-502.
PubMed=8824247; DOI=10.1074/jbc.271.42.26062;
Thomas C.P., Doggett N.A., Fisher R., Stokes J.B.;
"Genomic organization and the 5' flanking region of the gamma subunit
of the human amiloride-sensitive epithelial sodium channel.";
J. Biol. Chem. 271:26062-26066(1996).
[6]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 524-649, INVOLVEMENT IN LIDLS2,
VARIANT LIDLS2 573-TRP--LEU-649 DEL, FUNCTION, AND CHARACTERIZATION OF
VARIANT LIDLS2 573-TRP--LEU-649 DEL.
PubMed=7550319; DOI=10.1038/ng0995-76;
Hansson J.H., Nelson-Williams C., Suzuki H., Schild L., Shimkets R.A.,
Lu Y., Canessa C.M., Iwasaki T., Rossier B.C., Lifton R.P.;
"Hypertension caused by a truncated epithelial sodium channel gamma
subunit: genetic heterogeneity of Liddle syndrome.";
Nat. Genet. 11:76-82(1995).
[7]
INTERACTION WITH WWP1 AND WWP2.
PubMed=9169421; DOI=10.1074/jbc.272.23.14611;
Pirozzi G., McConnell S.J., Uveges A.J., Carter J.M., Sparks A.B.,
Kay B.K., Fowlkes D.M.;
"Identification of novel human WW domain-containing proteins by
cloning of ligand targets.";
J. Biol. Chem. 272:14611-14616(1997).
[8]
INTERACTION WITH NEDD4 AND NEDD4L.
PubMed=11244092; DOI=10.1074/jbc.C000906200;
Harvey K.F., Dinudom A., Cook D.I., Kumar S.;
"The Nedd4-like protein KIAA0439 is a potential regulator of the
epithelial sodium channel.";
J. Biol. Chem. 276:8597-8601(2001).
[9]
INTERACTION WITH NEDD4 AND WWP2.
PubMed=12167593; DOI=10.1152/ajprenal.00080.2002;
McDonald F.J., Western A.H., McNeil J.D., Thomas B.C., Olson D.R.,
Snyder P.M.;
"Ubiquitin-protein ligase WWP2 binds to and downregulates the
epithelial Na(+) channel.";
Am. J. Physiol. 283:F431-F436(2002).
[10]
INVOLVEMENT IN LIDLS2.
PubMed=12473862; DOI=10.1097/01.hjh.0000042881.24999.fc;
Hiltunen T.P., Hannila-Handelberg T., Petaejaeniemi N., Kantola I.,
Tikkanen I., Virtamo J., Gautschi I., Schild L., Kontula K.;
"Liddle's syndrome associated with a point mutation in the
extracellular domain of the epithelial sodium channel gamma subunit.";
J. Hypertens. 20:2383-2390(2002).
[11]
INVOLVEMENT IN LIDLS2.
PubMed=17634077; DOI=10.1111/j.1365-2265.2007.02967.x;
Wang Y., Zheng Y., Chen J., Wu H., Zheng D., Hui R.;
"A novel epithelial sodium channel gamma-subunit de novo frameshift
mutation leads to Liddle syndrome.";
Clin. Endocrinol. (Oxf.) 67:801-804(2007).
[12]
PROTEOLYTIC PROCESSING.
PubMed=18650438; DOI=10.1074/jbc.M803931200;
Carattino M.D., Hughey R.P., Kleyman T.R.;
"Proteolytic processing of the epithelial sodium channel gamma subunit
has a dominant role in channel activation.";
J. Biol. Chem. 283:25290-25295(2008).
[13]
INVOLVEMENT IN BESC3.
PubMed=19017867; DOI=10.1378/chest.08-2246;
Mutesa L., Azad A.K., Verhaeghe C., Segers K., Vanbellinghen J.F.,
Ngendahayo L., Rusingiza E.K., Mutwa P.R., Rulisa S., Koulischer L.,
Cassiman J.J., Cuppens H., Bours V.;
"Genetic analysis of Rwandan patients with cystic fibrosis-like
symptoms: identification of novel cystic fibrosis transmembrane
conductance regulator and epithelial sodium channel gene variants.";
Chest 135:1233-1242(2009).
[14]
TISSUE SPECIFICITY.
PubMed=22207244; DOI=10.1007/s00418-011-0904-1;
Enuka Y., Hanukoglu I., Edelheit O., Vaknine H., Hanukoglu A.;
"Epithelial sodium channels (ENaC) are uniformly distributed on motile
cilia in the oviduct and the respiratory airways.";
Histochem. Cell Biol. 137:339-353(2012).
[15]
INTERACTION WITH PCSK9.
PubMed=22493497; DOI=10.1074/jbc.M112.363382;
Sharotri V., Collier D.M., Olson D.R., Zhou R., Snyder P.M.;
"Regulation of epithelial sodium channel trafficking by proprotein
convertase subtilisin/kexin type 9 (PCSK9).";
J. Biol. Chem. 287:19266-19274(2012).
[16]
PROTEOLYTIC PROCESSING, FUNCTION, SUBCELLULAR LOCATION, AND SUBUNIT.
PubMed=24124190; DOI=10.1152/ajplung.00103.2013;
Hobbs C.A., Blanchard M.G., Alijevic O., Tan C.D., Kellenberger S.,
Bencharit S., Cao R., Kesimer M., Walton W.G., Henderson A.G.,
Redinbo M.R., Stutts M.J., Tarran R.;
"Identification of the SPLUNC1 ENaC-inhibitory domain yields novel
strategies to treat sodium hyperabsorption in cystic fibrosis airway
epithelial cultures.";
Am. J. Physiol. 305:L990-L1001(2013).
[17]
REVIEW.
PubMed=23547933;
Alvarez de la Rosa D., Navarro-Gonzalez J.F., Giraldez T.;
"ENaC modulators and renal disease.";
Curr. Mol. Pharmacol. 6:35-43(2013).
[18]
PHYLOGENETIC ANALYSIS, AND NOMENCLATURE.
PubMed=26772908; DOI=10.1016/j.gene.2015.12.061;
Hanukoglu I., Hanukoglu A.;
"Epithelial sodium channel (ENaC) family: Phylogeny, structure-
function, tissue distribution, and associated inherited diseases.";
Gene 579:95-132(2016).
[19]
VARIANTS TRP-178; PRO-502 AND SER-614.
PubMed=10404817; DOI=10.1210/jcem.84.7.5857;
Arai K., Zachman K., Shibasaki T., Chrousos G.P.;
"Polymorphisms of amiloride-sensitive sodium channel subunits in five
sporadic cases of pseudohypoaldosteronism: do they have pathologic
potential?";
J. Clin. Endocrinol. Metab. 84:2434-2437(1999).
[20]
VARIANTS CYS-49 AND SER-183.
PubMed=10391210; DOI=10.1038/10297;
Halushka M.K., Fan J.-B., Bentley K., Hsie L., Shen N., Weder A.,
Cooper R., Lipshutz R., Chakravarti A.;
"Patterns of single-nucleotide polymorphisms in candidate genes for
blood-pressure homeostasis.";
Nat. Genet. 22:239-247(1999).
[21]
VARIANT [LARGE SCALE ANALYSIS] ARG-58.
PubMed=16959974; DOI=10.1126/science.1133427;
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
Vogelstein B., Kinzler K.W., Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal
cancers.";
Science 314:268-274(2006).
[22]
VARIANTS SER-183 AND LYS-197, AND INVOLVEMENT IN BESC3.
PubMed=18507830; DOI=10.1186/1465-9921-9-46;
Fajac I., Viel M., Sublemontier S., Hubert D., Bienvenu T.;
"Could a defective epithelial sodium channel lead to bronchiectasis.";
Respir. Res. 9:46-46(2008).
-!- FUNCTION: Sodium permeable non-voltage-sensitive ion channel
inhibited by the diuretic amiloride. Mediates the electrodiffusion
of the luminal sodium (and water, which follows osmotically)
through the apical membrane of epithelial cells. Plays an
essential role in electrolyte and blood pressure homeostasis, but
also in airway surface liquid homeostasis, which is important for
proper clearance of mucus. Controls the reabsorption of sodium in
kidney, colon, lung and sweat glands. Also plays a role in taste
perception. {ECO:0000269|PubMed:24124190,
ECO:0000269|PubMed:7550319, ECO:0000303|PubMed:7490094}.
-!- ACTIVITY REGULATION: Activated by WNK1, WNK2, WNK3 and WNK4.
{ECO:0000250|UniProtKB:Q9WU39}.
-!- SUBUNIT: Heterotrimer containing an alpha/SCNN1A, a beta/SCNN1B
and a gamma/SCNN1G subunit. An additional delta/SCNN1D subunit
exists only in some organisms and can replace the alpha/SCNN1A
subunit to form an alternative channel with specific properties
(PubMed:7762608). Interacts with NEDD4; via the WW domains
(PubMed:11244092, PubMed:12167593). Interacts with NEDD4L; via the
WW domains (PubMed:11244092). Interacts with WWP1; via the WW
domains (PubMed:9169421). Interacts with WWP2; via the WW domains
(PubMed:9169421, PubMed:12167593). Interacts with the full-length
immature form of PCSK9 (pro-PCSK9) (PubMed:22493497).
{ECO:0000269|PubMed:11244092, ECO:0000269|PubMed:12167593,
ECO:0000269|PubMed:22493497, ECO:0000269|PubMed:24124190,
ECO:0000269|PubMed:7490094, ECO:0000269|PubMed:7762608,
ECO:0000269|PubMed:9169421}.
-!- INTERACTION:
P37088:SCNN1A; NbExp=3; IntAct=EBI-2547354, EBI-7845444;
-!- SUBCELLULAR LOCATION: Apical cell membrane
{ECO:0000269|PubMed:24124190, ECO:0000303|PubMed:7490094}; Multi-
pass membrane protein {ECO:0000250|UniProtKB:P37089}. Note=Apical
membrane of epithelial cells. {ECO:0000303|PubMed:7490094}.
-!- TISSUE SPECIFICITY: Expressed in kidney (at protein level).
{ECO:0000269|PubMed:22207244}.
-!- PTM: Phosphorylated on serine and threonine residues. Aldosterone
and insulin increase the basal level of phosphorylation.
{ECO:0000250|UniProtKB:P37091}.
-!- PTM: Ubiquitinated; this targets individual subunits for
endocytosis and proteasome-mediated degradation.
{ECO:0000250|UniProtKB:P37091}.
-!- PTM: ENaC cleavage by furin, and subsequently by prostasin
(PRSS8), leads to a stepwise increase in the open probability of
the channel as a result of release of the alpha and gamma subunit
inhibitory tracts, respectively. Interaction of ENaC subunit
SCNN1B with BPIFA1 protects ENaC against proteolytic activation.
{ECO:0000269|PubMed:18650438, ECO:0000269|PubMed:24124190}.
-!- DISEASE: Liddle syndrome 2 (LIDLS2) [MIM:618114]: A form of Liddle
syndrome, an autosomal dominant disorder characterized by early
onset of hypertension, hypokalemic alkalosis, and suppression of
plasma renin activity and aldosterone secretion.
{ECO:0000269|PubMed:12473862, ECO:0000269|PubMed:17634077,
ECO:0000269|PubMed:7550319}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Bronchiectasis with or without elevated sweat chloride 3
(BESC3) [MIM:613071]: A debilitating respiratory disease
characterized by chronic, abnormal dilatation of the bronchi and
other cystic fibrosis-like symptoms in the absence of known causes
of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary
dyskinesia, common variable immunodeficiency, foreign body
obstruction). Clinical features include sub-normal lung function,
sinopulmonary infections, chronic productive cough, excessive
sputum production, and elevated sweat chloride in some cases.
{ECO:0000269|PubMed:18507830, ECO:0000269|PubMed:19017867}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- SIMILARITY: Belongs to the amiloride-sensitive sodium channel (TC
1.A.6) family. SCNN1G subfamily. {ECO:0000305}.
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EMBL; X87160; CAA60633.1; -; mRNA.
EMBL; L36592; AAA75460.1; -; mRNA.
EMBL; AF356502; AAK50910.1; -; Genomic_DNA.
EMBL; AF356493; AAK50910.1; JOINED; Genomic_DNA.
EMBL; AF356494; AAK50910.1; JOINED; Genomic_DNA.
EMBL; AF356495; AAK50910.1; JOINED; Genomic_DNA.
EMBL; AF356496; AAK50910.1; JOINED; Genomic_DNA.
EMBL; AF356497; AAK50910.1; JOINED; Genomic_DNA.
EMBL; AF356498; AAK50910.1; JOINED; Genomic_DNA.
EMBL; AF356499; AAK50910.1; JOINED; Genomic_DNA.
EMBL; AF356500; AAK50910.1; JOINED; Genomic_DNA.
EMBL; AF356501; AAK50910.1; JOINED; Genomic_DNA.
EMBL; BC059391; AAH59391.1; -; mRNA.
EMBL; BC069652; AAH69652.1; -; mRNA.
EMBL; U48936; AAC50737.1; -; mRNA.
EMBL; U53836; AAC50744.1; -; Genomic_DNA.
EMBL; U53837; AAC50745.1; -; Genomic_DNA.
EMBL; U53841; AAC50749.1; -; Genomic_DNA.
EMBL; U53844; AAC50752.1; -; Genomic_DNA.
EMBL; U53845; AAC50753.1; -; Genomic_DNA.
EMBL; U53846; AAC50754.1; -; Genomic_DNA.
EMBL; U53847; AAC50755.1; -; Genomic_DNA.
EMBL; U53850; AAC50758.1; -; Genomic_DNA.
EMBL; U53852; AAC50760.1; -; Genomic_DNA.
EMBL; U35630; AAC50217.1; -; Genomic_DNA.
CCDS; CCDS10608.1; -.
PIR; I38204; I38204.
PIR; I64847; I64847.
RefSeq; NP_001030.2; NM_001039.3.
PDB; 6BQN; EM; 3.90 A; C=78-524.
PDBsum; 6BQN; -.
SMR; P51170; -.
BioGrid; 112244; 15.
ComplexPortal; CPX-2188; Amiloride-sensitive sodium channel complex, alpha-beta-gamma.
ComplexPortal; CPX-312; Amiloride-sensitive sodium channel complex, delta-alpha-beta-gamma.
ComplexPortal; CPX-313; Amiloride-sensitive sodium channel complex, delta-beta-gamma.
CORUM; P51170; -.
ELM; P51170; -.
IntAct; P51170; 4.
MINT; P51170; -.
STRING; 9606.ENSP00000300061; -.
ChEMBL; CHEMBL2107836; -.
DrugBank; DB00594; Amiloride.
DrugBank; DB00384; Triamterene.
GuidetoPHARMACOLOGY; 741; -.
TCDB; 1.A.6.1.1; the epithelial na(+) channel (enac) family.
iPTMnet; P51170; -.
PhosphoSitePlus; P51170; -.
BioMuta; SCNN1G; -.
DMDM; 108885072; -.
EPD; P51170; -.
jPOST; P51170; -.
PaxDb; P51170; -.
PeptideAtlas; P51170; -.
PRIDE; P51170; -.
ProteomicsDB; 56297; -.
Ensembl; ENST00000300061; ENSP00000300061; ENSG00000166828.
GeneID; 6340; -.
KEGG; hsa:6340; -.
UCSC; uc002dlm.2; human.
CTD; 6340; -.
DisGeNET; 6340; -.
GeneCards; SCNN1G; -.
HGNC; HGNC:10602; SCNN1G.
HPA; HPA071194; -.
MalaCards; SCNN1G; -.
MIM; 600761; gene.
MIM; 613071; phenotype.
MIM; 618114; phenotype.
neXtProt; NX_P51170; -.
OpenTargets; ENSG00000166828; -.
Orphanet; 171876; Generalized pseudohypoaldosteronism type 1.
Orphanet; 60033; Idiopathic bronchiectasis.
Orphanet; 526; Liddle syndrome.
PharmGKB; PA307; -.
eggNOG; KOG4294; Eukaryota.
eggNOG; ENOG410ZNFK; LUCA.
GeneTree; ENSGT00940000160352; -.
InParanoid; P51170; -.
KO; K04827; -.
OMA; AQWPSVV; -.
OrthoDB; 1599898at2759; -.
PhylomeDB; P51170; -.
TreeFam; TF330663; -.
Reactome; R-HSA-2672351; Stimuli-sensing channels.
SIGNOR; P51170; -.
GeneWiki; SCNN1G; -.
GenomeRNAi; 6340; -.
PRO; PR:P51170; -.
Proteomes; UP000005640; Chromosome 16.
Bgee; ENSG00000166828; Expressed in 94 organ(s), highest expression level in adult mammalian kidney.
ExpressionAtlas; P51170; baseline and differential.
Genevisible; P51170; HS.
GO; GO:0016324; C:apical plasma membrane; IEA:UniProtKB-SubCell.
GO; GO:0009897; C:external side of plasma membrane; IEA:Ensembl.
GO; GO:0070062; C:extracellular exosome; IDA:UniProtKB.
GO; GO:0005887; C:integral component of plasma membrane; IDA:UniProtKB.
GO; GO:0005654; C:nucleoplasm; IDA:HPA.
GO; GO:0005886; C:plasma membrane; IDA:HPA.
GO; GO:0034706; C:sodium channel complex; IDA:UniProtKB.
GO; GO:0005216; F:ion channel activity; IMP:CACAO.
GO; GO:0015280; F:ligand-gated sodium channel activity; TAS:ProtInc.
GO; GO:0005272; F:sodium channel activity; TAS:ProtInc.
GO; GO:0050699; F:WW domain binding; IPI:BHF-UCL.
GO; GO:0007588; P:excretion; TAS:ProtInc.
GO; GO:0034220; P:ion transmembrane transport; TAS:Reactome.
GO; GO:0050891; P:multicellular organismal water homeostasis; IDA:UniProtKB.
GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW.
GO; GO:0050909; P:sensory perception of taste; IEA:UniProtKB-KW.
GO; GO:0055078; P:sodium ion homeostasis; IDA:UniProtKB.
GO; GO:0035725; P:sodium ion transmembrane transport; IDA:UniProtKB.
GO; GO:0006814; P:sodium ion transport; TAS:ProtInc.
InterPro; IPR001873; ENaC.
InterPro; IPR004724; ENaC_chordates.
InterPro; IPR020903; ENaC_CS.
PANTHER; PTHR11690; PTHR11690; 1.
Pfam; PF00858; ASC; 1.
PRINTS; PR01078; AMINACHANNEL.
TIGRFAMs; TIGR00859; ENaC; 1.
PROSITE; PS01206; ASC; 1.
1: Evidence at protein level;
3D-structure; Cell membrane; Complete proteome; Disease mutation;
Glycoprotein; Ion channel; Ion transport; Membrane; Phosphoprotein;
Polymorphism; Reference proteome; Sensory transduction; Sodium;
Sodium channel; Sodium transport; Taste; Transmembrane;
Transmembrane helix; Transport; Ubl conjugation.
CHAIN 1 649 Amiloride-sensitive sodium channel
subunit gamma.
/FTId=PRO_0000181276.
TOPO_DOM 1 55 Cytoplasmic.
{ECO:0000250|UniProtKB:P37089}.
TRANSMEM 56 76 Helical; Name=1. {ECO:0000255}.
TOPO_DOM 77 541 Extracellular.
{ECO:0000250|UniProtKB:P37089}.
TRANSMEM 542 562 Helical; Name=2. {ECO:0000255}.
TOPO_DOM 563 649 Cytoplasmic.
{ECO:0000250|UniProtKB:P37089}.
CARBOHYD 209 209 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 497 497 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VARIANT 49 49 G -> C (in dbSNP:rs5733).
{ECO:0000269|PubMed:10391210}.
/FTId=VAR_014893.
VARIANT 58 58 G -> R (in a colorectal cancer sample;
somatic mutation; dbSNP:rs1183385193).
{ECO:0000269|PubMed:16959974}.
/FTId=VAR_036483.
VARIANT 178 178 R -> W. {ECO:0000269|PubMed:10404817,
ECO:0000269|PubMed:7762608}.
/FTId=VAR_015842.
VARIANT 183 183 G -> S (in a patient with bronchiectasis;
dbSNP:rs5736).
{ECO:0000269|PubMed:10391210,
ECO:0000269|PubMed:18507830}.
/FTId=VAR_014894.
VARIANT 197 197 E -> K (in a patient with bronchiectasis;
dbSNP:rs5738).
{ECO:0000269|PubMed:18507830}.
/FTId=VAR_034485.
VARIANT 502 502 A -> P. {ECO:0000269|PubMed:10404817,
ECO:0000269|PubMed:12107247,
ECO:0000269|PubMed:7762608,
ECO:0000269|PubMed:8824247}.
/FTId=VAR_015843.
VARIANT 573 649 Missing (in LIDLS2; increased sodium
channel activity).
{ECO:0000269|PubMed:7550319}.
/FTId=VAR_081180.
VARIANT 614 614 A -> S. {ECO:0000269|PubMed:10404817,
ECO:0000269|PubMed:7762608}.
/FTId=VAR_015844.
CONFLICT 339 339 F -> S (in Ref. 1; CAA60633).
{ECO:0000305}.
CONFLICT 350 350 A -> T (in Ref. 1; CAA60633).
{ECO:0000305}.
CONFLICT 369 369 Y -> S (in Ref. 1; CAA60633).
{ECO:0000305}.
CONFLICT 375 375 D -> G (in Ref. 1; CAA60633).
{ECO:0000305}.
CONFLICT 458 458 S -> R (in Ref. 1; CAA60633).
{ECO:0000305}.
CONFLICT 461 463 EWT -> DGH (in Ref. 5; AAC50758).
{ECO:0000305}.
SEQUENCE 649 AA; 74270 MW; F67ED45F03A9BF3F CRC64;
MAPGEKIKAK IKKNLPVTGP QAPTIKELMR WYCLNTNTHG CRRIVVSRGR LRRLLWIGFT
LTAVALILWQ CALLVFSFYT VSVSIKVHFR KLDFPAVTIC NINPYKYSTV RHLLADLEQE
TREALKSLYG FPESRKRREA ESWNSVSEGK QPRFSHRIPL LIFDQDEKGK ARDFFTGRKR
KVGGSIIHKA SNVMHIESKQ VVGFQLCSND TSDCATYTFS SGINAIQEWY KLHYMNIMAQ
VPLEKKINMS YSAEELLVTC FFDGVSCDAR NFTLFHHPMH GNCYTFNNRE NETILSTSMG
GSEYGLQVIL YINEEEYNPF LVSSTGAKVI IHRQDEYPFV EDVGTEIETA MVTSIGMHLT
ESFKLSEPYS QCTEDGSDVP IRNIYNAAYS LQICLHSCFQ TKMVEKCGCA QYSQPLPPAA
NYCNYQQHPN WMYCYYQLHR AFVQEELGCQ SVCKEACSFK EWTLTTSLAQ WPSVVSEKWL
LPVLTWDQGR QVNKKLNKTD LAKLLIFYKD LNQRSIMESP ANSIEMLLSN FGGQLGLWMS
CSVVCVIEII EVFFIDFFSI IARRQWQKAK EWWAWKQAPP CPEAPRSPQG QDNPALDIDD
DLPTFNSALH LPPALGTQVP GTPPPKYNTL RLERAFSNQL TDTQMLDEL


Related products :

Catalog number Product name Quantity
EIAAB37642 Amiloride-sensitive sodium channel subunit gamma,ENaCG,Epithelial Na(+) channel subunit gamma,Gamma-ENaC,Gamma-NaCH,Homo sapiens,Human,Nonvoltage-gated sodium channel 1 subunit gamma,SCNEG,SCNN1G
EIAAB37641 Amiloride-sensitive sodium channel subunit gamma,Epithelial Na(+) channel subunit gamma,Gamma-ENaC,Gamma-NaCH,Nonvoltage-gated sodium channel 1 subunit gamma,Oryctolagus cuniculus,Rabbit,SCNEG,SCNN1G
EIAAB37640 Amiloride-sensitive sodium channel subunit gamma,Epithelial Na(+) channel subunit gamma,Gamma-ENaC,Gamma-NaCH,Mouse,Mus musculus,Nonvoltage-gated sodium channel 1 subunit gamma,SCNEG,Scnn1g
EIAAB37639 Amiloride-sensitive sodium channel subunit gamma,Epithelial Na(+) channel subunit gamma,Gamma-ENaC,Gamma-NaCH,Nonvoltage-gated sodium channel 1 subunit gamma,Rat,Rattus norvegicus,SCNEG,Scnn1g
EIAAB37638 Amiloride-sensitive sodium channel subunit delta,Delta-ENaC,Delta-NaCH,DNACH,ENaCD,Epithelial Na(+) channel subunit delta,Homo sapiens,Human,Nonvoltage-gated sodium channel 1 subunit delta,SCNED,SCNN1
EIAAB37636 Amiloride-sensitive sodium channel subunit beta,Beta-ENaC,Beta-NaCH,ENaCB,Epithelial Na(+) channel subunit beta,Homo sapiens,Human,Nonvoltage-gated sodium channel 1 subunit beta,SCNEB,SCNN1B
EIAAB37637 Amiloride-sensitive sodium channel subunit beta,Beta-ENaC,Beta-NaCH,Epithelial Na(+) channel subunit beta,Nonvoltage-gated sodium channel 1 subunit beta,Oryctolagus cuniculus,Rabbit,SCNEB,SCNN1B
EIAAB37628 Alpha-ENaC,Alpha-NaCH,Amiloride-sensitive sodium channel subunit alpha,Epithelial Na(+) channel subunit alpha,Nonvoltage-gated sodium channel 1 subunit alpha,Rat,Rattus norvegicus,Renac,SCNEA,Scnn1a
EIAAB37631 Alpha-ENaC,Alpha-NaCH,Amiloride-sensitive sodium channel subunit alpha,Epithelial Na(+) channel subunit alpha,Nonvoltage-gated sodium channel 1 subunit alpha,Oryctolagus cuniculus,Rabbit,SCNEA,SCNN1A
EIAAB37632 Alpha-ENaC,Alpha-NaCH,Amiloride-sensitive sodium channel subunit alpha,Epithelial Na(+) channel subunit alpha,Mouse,Mus musculus,Nonvoltage-gated sodium channel 1 subunit alpha,SCNEA,Scnn1a
EIAAB37633 Amiloride-sensitive sodium channel subunit beta,Beta-ENaC,Beta-NaCH,Epithelial Na(+) channel subunit beta,Mouse,Mus musculus,Nonvoltage-gated sodium channel 1 subunit beta,SCNEB,Scnn1b
EIAAB37635 Amiloride-sensitive sodium channel subunit beta,Beta-ENaC,Beta-NaCH,Epithelial Na(+) channel subunit beta,Nonvoltage-gated sodium channel 1 subunit beta,Rat,Rattus norvegicus,SCNEB,Scnn1b
EIAAB37629 Alpha-ENaC,Alpha-NaCH,Amiloride-sensitive sodium channel subunit alpha,Bos taurus,Bovine,Epithelial Na(+) channel subunit alpha,Nonvoltage-gated sodium channel 1 subunit alpha,SCNEA,SCNN1A
18-003-42608 Amiloride-sensitive sodium channel subunit beta - Epithelial Na+ channel subunit beta; Beta ENaC; Nonvoltage-gated sodium channel 1 subunit beta; SCNEB; Beta NaCH; ENaCB Polyclonal 0.05 mg Aff Pur
EIAAB37630 Alpha-ENaC,Alpha-NaCH,Amiloride-sensitive sodium channel subunit alpha,Chicken,ENAC,Epithelial Na(+) channel subunit alpha,Gallus gallus,Nonvoltage-gated sodium channel 1 subunit alpha,SCNEA,SCNN1A
EIAAB37627 Alpha-ENaC,Alpha-NaCH,Amiloride-sensitive sodium channel subunit alpha,ENaCA,Epithelial Na(+) channel subunit alpha,Homo sapiens,Human,Nonvoltage-gated sodium channel 1 subunit alpha,SCNEA,SCNN1,SCNN1
EIAAB37634 Amiloride-sensitive sodium channel subunit beta,Beta-ENaC,Beta-NaCH,Canis familiaris,Canis lupus familiaris,Dog,Epithelial Na(+) channel subunit beta,Nonvoltage-gated sodium channel 1 subunit beta,SCN
EIAAB06090 CACNG6,CACNG8,Homo sapiens,Human,Neuronal voltage-gated calcium channel gamma-8 subunit,TARP gamma-8,Transmembrane AMPAR regulatory protein gamma-8,Voltage-dependent calcium channel gamma-8 subunit
EIAAB06087 CACNG7,Homo sapiens,Human,Neuronal voltage-gated calcium channel gamma-7 subunit,TARP gamma-7,Transmembrane AMPAR regulatory protein gamma-7,Voltage-dependent calcium channel gamma-7 subunit
EIAAB06071 CACNG2,Homo sapiens,Human,Neuronal voltage-gated calcium channel gamma-2 subunit,TARP gamma-2,Transmembrane AMPAR regulatory protein gamma-2,Voltage-dependent calcium channel gamma-2 subunit
EIAAB06076 CACNG3,Homo sapiens,Human,Neuronal voltage-gated calcium channel gamma-3 subunit,TARP gamma-3,Transmembrane AMPAR regulatory protein gamma-3,Voltage-dependent calcium channel gamma-3 subunit
EIAAB06079 CACNG4,Homo sapiens,Human,Neuronal voltage-gated calcium channel gamma-4 subunit,TARP gamma-4,Transmembrane AMPAR regulatory protein gamma-4,Voltage-dependent calcium channel gamma-4 subunit
EIAAB06082 CACNG5,Homo sapiens,Human,Neuronal voltage-gated calcium channel gamma-5 subunit,TARP gamma-5,Transmembrane AMPAR regulatory protein gamma-5,Voltage-dependent calcium channel gamma-5 subunit
EIAAB06078 Cacng4,Neuronal voltage-gated calcium channel gamma-4 subunit,Rat,Rattus norvegicus,TARP gamma-4,Transmembrane AMPAR regulatory protein gamma-4,Voltage-dependent calcium channel gamma-4 subunit
EIAAB06077 Bos taurus,Bovine,CACNG3,Neuronal voltage-gated calcium channel gamma-3 subunit,TARP gamma-3,Transmembrane AMPAR regulatory protein gamma-3,Voltage-dependent calcium channel gamma-3 subunit
Pathways :
WP2292: Chemokine signaling pathway
WP868: estrogen signalling
WP1836: Interferon gamma signaling
WP2006: Squamous cell TarBase
WP2199: Seed Development
WP262: EBV LMP1 signaling
WP1224: EBV LMP1 signaling
WP542: Electron Transport Chain
WP1722: Th1/Th2
WP152: FGF signaling pathway
WP866: EBV LMP1 signaling
WP1993: angiogenesis overview
WP1654: gamma-Hexachlorocyclohexane degradation
WP537: Translation Factors
WP760: estrogen signalling
WP1886: Post-translational modification: gamma carboxylation and hypusine formation
WP2152: BDNF
WP32: Translation Factors
WP1225: estrogen signalling
WP758: EBV LMP1 signaling
WP1566: Citrate cycle (TCA cycle)
WP1634: Butanoate metabolism
WP1655: Geraniol degradation
WP1672: Mismatch repair
WP1694: Pyrimidine metabolism

Related Genes :
[SCNN1G] Amiloride-sensitive sodium channel subunit gamma (Epithelial Na(+) channel subunit gamma) (ENaCG) (Gamma-ENaC) (Gamma-NaCH) (Nonvoltage-gated sodium channel 1 subunit gamma) (SCNEG)
[SCNN1A SCNN1] Amiloride-sensitive sodium channel subunit alpha (Alpha-NaCH) (Epithelial Na(+) channel subunit alpha) (Alpha-ENaC) (ENaCA) (Nonvoltage-gated sodium channel 1 subunit alpha) (SCNEA)
[SCNN1B] Amiloride-sensitive sodium channel subunit beta (Beta-NaCH) (Epithelial Na(+) channel subunit beta) (Beta-ENaC) (ENaCB) (Nonvoltage-gated sodium channel 1 subunit beta) (SCNEB)
[Asic2 Accn1 Bnac1 Mdeg] Acid-sensing ion channel 2 (ASIC2) (Amiloride-sensitive brain sodium channel) (Amiloride-sensitive brain sodium channel 2) (Amiloride-sensitive cation channel 1, neuronal) (Amiloride-sensitive cation channel neuronal 1) (Brain sodium channel 1) (BNC1) (BNaC1) (Mammalian degenerin homolog) (MDEG)
[ASIC2 ACCN ACCN1 BNAC1 MDEG] Acid-sensing ion channel 2 (ASIC2) (Amiloride-sensitive brain sodium channel) (Amiloride-sensitive cation channel 1, neuronal) (Amiloride-sensitive cation channel neuronal 1) (Brain sodium channel 1) (BNC1) (BNaC1) (Mammalian degenerin homolog) (MDEG)
[CACNG1 CACNLG] Voltage-dependent calcium channel gamma-1 subunit (Dihydropyridine-sensitive L-type, skeletal muscle calcium channel subunit gamma)
[Asic2 Accn1 Bnac1] Acid-sensing ion channel 2 (ASIC2) (Amiloride-sensitive brain sodium channel) (Amiloride-sensitive cation channel 1, neuronal) (Brain sodium channel 1) (BNC1) (BNaC1)
[FXYD2 ATP1C ATP1G1] Sodium/potassium-transporting ATPase subunit gamma (Na(+)/K(+) ATPase subunit gamma) (FXYD domain-containing ion transport regulator 2) (Sodium pump gamma chain)
[Fxyd2 Atp1c Atp1g1] Sodium/potassium-transporting ATPase subunit gamma (Na(+)/K(+) ATPase subunit gamma) (FXYD domain-containing ion transport regulator 2) (Sodium pump gamma chain)
[CACNG7] Voltage-dependent calcium channel gamma-7 subunit (Neuronal voltage-gated calcium channel gamma-7 subunit) (Transmembrane AMPAR regulatory protein gamma-7) (TARP gamma-7)
[CACNG4] Voltage-dependent calcium channel gamma-4 subunit (Neuronal voltage-gated calcium channel gamma-4 subunit) (Transmembrane AMPAR regulatory protein gamma-4) (TARP gamma-4)
[Cacng4] Voltage-dependent calcium channel gamma-4 subunit (Neuronal voltage-gated calcium channel gamma-4 subunit) (Transmembrane AMPAR regulatory protein gamma-4) (TARP gamma-4)
[CACNG2] Voltage-dependent calcium channel gamma-2 subunit (Neuronal voltage-gated calcium channel gamma-2 subunit) (Transmembrane AMPAR regulatory protein gamma-2) (TARP gamma-2)
[Cacng7] Voltage-dependent calcium channel gamma-7 subunit (Neuronal voltage-gated calcium channel gamma-7 subunit) (Transmembrane AMPAR regulatory protein gamma-7) (TARP gamma-7)
[Cacng4] Voltage-dependent calcium channel gamma-4 subunit (Neuronal voltage-gated calcium channel gamma-4 subunit) (Transmembrane AMPAR regulatory protein gamma-4) (TARP gamma-4)
[Cacng8] Voltage-dependent calcium channel gamma-8 subunit (Neuronal voltage-gated calcium channel gamma-8 subunit) (Transmembrane AMPAR regulatory protein gamma-8) (TARP gamma-8)
[Cacng8] Voltage-dependent calcium channel gamma-8 subunit (Neuronal voltage-gated calcium channel gamma-8 subunit) (Transmembrane AMPAR regulatory protein gamma-8) (TARP gamma-8)
[CACNG8 CACNG6] Voltage-dependent calcium channel gamma-8 subunit (Neuronal voltage-gated calcium channel gamma-8 subunit) (Transmembrane AMPAR regulatory protein gamma-8) (TARP gamma-8)
[Scn1a] Sodium channel protein type 1 subunit alpha (Sodium channel protein brain I subunit alpha) (Sodium channel protein type I subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.1)
[Asic1 Accn2 Bnac2] Acid-sensing ion channel 1 (ASIC1) (Amiloride-sensitive cation channel 2, neuronal) (Brain sodium channel 2) (BNaC2)
[Scn8a] Sodium channel protein type 8 subunit alpha (Peripheral nerve protein type 4) (PN4) (Sodium channel 6) (NaCh6) (Sodium channel protein type VIII subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.6)
[ASIC1 ACCN2 BNAC2] Acid-sensing ion channel 1 (ASIC1) (Amiloride-sensitive cation channel 2, neuronal) (Brain sodium channel 2) (BNaC2)
[ASIC3 ACCN3 SLNAC1 TNAC1] Acid-sensing ion channel 3 (ASIC3) (hASIC3) (Amiloride-sensitive cation channel 3) (Neuronal amiloride-sensitive cation channel 3) (Testis sodium channel 1) (hTNaC1)
[SCN9A NENA] Sodium channel protein type 9 subunit alpha (Neuroendocrine sodium channel) (hNE-Na) (Peripheral sodium channel 1) (PN1) (Sodium channel protein type IX subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.7)
[Asic1 Accn2 Asic Bnac2] Acid-sensing ion channel 1 (ASIC1) (Acid-sensing ion channel) (Amiloride-sensitive cation channel 2, neuronal) (Brain sodium channel 2) (BNaC2)
[Scn10a Sns] Sodium channel protein type 10 subunit alpha (Peripheral nerve sodium channel 3) (PN3) (Sensory neuron sodium channel) (Sodium channel protein type X subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.8)
[Cacng1] Voltage-dependent calcium channel gamma-1 subunit (Dihydropyridine-sensitive L-type, skeletal muscle calcium channel subunit gamma)
[SCN4A] Sodium channel protein type 4 subunit alpha (SkM1) (Sodium channel protein skeletal muscle subunit alpha) (Sodium channel protein type IV subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.4)
[Fxyd2 Atp1c Atp1g1] Sodium/potassium-transporting ATPase subunit gamma (Na(+)/K(+) ATPase subunit gamma) (FXYD domain-containing ion transport regulator 2) (Sodium pump gamma chain)
[SCN1A NAC1 SCN1] Sodium channel protein type 1 subunit alpha (Sodium channel protein brain I subunit alpha) (Sodium channel protein type I subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.1)

Bibliography :