Details for: SCNN1A

Gene ID: 6337

Symbol: SCNN1A

Ensembl ID: ENSG00000111319

Description: sodium channel epithelial 1 subunit alpha

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 94.8277
    Cell Significance Index: -14.7500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 58.7439
    Cell Significance Index: -14.9000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 29.6118
    Cell Significance Index: -12.0300
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 19.5225
    Cell Significance Index: -13.1000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 12.5165
    Cell Significance Index: -11.9500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 11.9631
    Cell Significance Index: -14.7500
  • Cell Name: epithelial cell of sweat gland (CL1000448)
    Fold Change: 9.3611
    Cell Significance Index: 6.6900
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 6.2627
    Cell Significance Index: 23.9800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.9354
    Cell Significance Index: -15.9000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.7582
    Cell Significance Index: -14.8300
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 3.6036
    Cell Significance Index: 39.0600
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 2.9645
    Cell Significance Index: 18.2900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.6762
    Cell Significance Index: 139.0200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 2.3795
    Cell Significance Index: 35.6600
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 2.0630
    Cell Significance Index: 21.2800
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 1.9827
    Cell Significance Index: 4.4700
  • Cell Name: peg cell (CL4033014)
    Fold Change: 1.8491
    Cell Significance Index: 42.7200
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 1.8406
    Cell Significance Index: 6.3200
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.7540
    Cell Significance Index: 15.5700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.4393
    Cell Significance Index: -3.1500
  • Cell Name: salivary gland glandular cell (CL1001596)
    Fold Change: 1.2918
    Cell Significance Index: 7.1900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.2220
    Cell Significance Index: 132.9200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.1844
    Cell Significance Index: 33.1000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.1622
    Cell Significance Index: 189.0300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.1238
    Cell Significance Index: 1014.7200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 1.0241
    Cell Significance Index: 35.9900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.0006
    Cell Significance Index: 45.3600
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.9673
    Cell Significance Index: 13.7700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.8393
    Cell Significance Index: 458.3700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7571
    Cell Significance Index: 74.8900
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.6740
    Cell Significance Index: 7.8400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.6681
    Cell Significance Index: 19.2500
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 0.6589
    Cell Significance Index: 4.0600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.6102
    Cell Significance Index: 28.4500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.6042
    Cell Significance Index: 41.7900
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.5111
    Cell Significance Index: 5.4300
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.4363
    Cell Significance Index: 6.7500
  • Cell Name: mucus secreting cell of tracheobronchial tree submucosal gland (CL4033037)
    Fold Change: 0.3459
    Cell Significance Index: 2.3100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.2643
    Cell Significance Index: 7.2000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.2498
    Cell Significance Index: 158.6700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.2130
    Cell Significance Index: 3.6500
  • Cell Name: serous secreting cell of bronchus submucosal gland (CL4033005)
    Fold Change: 0.2089
    Cell Significance Index: 2.0900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1644
    Cell Significance Index: 31.2900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1622
    Cell Significance Index: 12.0900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1544
    Cell Significance Index: 3.8600
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 0.1500
    Cell Significance Index: 0.5700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1465
    Cell Significance Index: 3.1200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.1389
    Cell Significance Index: 101.8300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.1201
    Cell Significance Index: 13.7100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1035
    Cell Significance Index: 18.6600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0898
    Cell Significance Index: 67.9500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0671
    Cell Significance Index: 41.8800
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 0.0604
    Cell Significance Index: 0.4600
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0570
    Cell Significance Index: 0.5300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0368
    Cell Significance Index: 4.5200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0360
    Cell Significance Index: 66.3400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0278
    Cell Significance Index: 0.8900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0265
    Cell Significance Index: 49.9000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0238
    Cell Significance Index: 4.0600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0181
    Cell Significance Index: 8.0200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0095
    Cell Significance Index: 14.5900
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.0061
    Cell Significance Index: 0.0400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0073
    Cell Significance Index: -5.3800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0092
    Cell Significance Index: -5.1900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0114
    Cell Significance Index: -15.5500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0154
    Cell Significance Index: -3.0700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0179
    Cell Significance Index: -2.0500
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.0179
    Cell Significance Index: -0.1800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0183
    Cell Significance Index: -0.2500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0211
    Cell Significance Index: -2.1600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0257
    Cell Significance Index: -3.3000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0296
    Cell Significance Index: -10.6300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0307
    Cell Significance Index: -13.9200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0348
    Cell Significance Index: -10.0100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0411
    Cell Significance Index: -5.6500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0416
    Cell Significance Index: -8.3400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0424
    Cell Significance Index: -8.9400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0505
    Cell Significance Index: -6.5200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0534
    Cell Significance Index: -2.5100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0584
    Cell Significance Index: -6.8100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0629
    Cell Significance Index: -9.1500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0679
    Cell Significance Index: -3.4300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0688
    Cell Significance Index: -1.4900
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: -0.0877
    Cell Significance Index: -0.8400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0895
    Cell Significance Index: -4.6600
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: -0.0935
    Cell Significance Index: -0.9900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0993
    Cell Significance Index: -6.0900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1088
    Cell Significance Index: -8.6200
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: -0.1110
    Cell Significance Index: -1.0000
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1136
    Cell Significance Index: -4.6500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1300
    Cell Significance Index: -15.3300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1407
    Cell Significance Index: -14.6600
  • Cell Name: airway submucosal gland collecting duct epithelial cell (CL4033023)
    Fold Change: -0.1539
    Cell Significance Index: -1.0800
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1591
    Cell Significance Index: -5.8400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1688
    Cell Significance Index: -11.9400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1733
    Cell Significance Index: -3.6000
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: -0.1782
    Cell Significance Index: -1.8800
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.1884
    Cell Significance Index: -1.4400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2009
    Cell Significance Index: -12.9600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2066
    Cell Significance Index: -13.8900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The SCNN1A gene is a single copy gene located on chromosome 5q33. The encoded protein, SCNNA_HUMAN, is a transmembrane protein composed of three subunits: alpha, beta, and gamma. The alpha subunit (SCNN1A) is the focus of this discussion, and it is the most abundant subunit of ENaC. The SCNN1A gene is highly expressed in various tissues, including the kidneys, lungs, and intestines, where it plays a crucial role in maintaining sodium homeostasis. **Pathways and Functions** The SCNN1A gene is involved in several key pathways, including: 1. **Ion Channel Transport**: ENaC is a ligand-gated sodium channel that regulates sodium ion transport across the plasma membrane. The alpha subunit (SCNN1A) is essential for the function of ENaC, which is critical for maintaining sodium homeostasis in the body. 2. **Sensory Perception**: ENaC is also involved in the detection of salty and sour tastes, which is mediated by the alpha subunit (SCNN1A). This gene plays a crucial role in the perception of these tastes, which is essential for maintaining proper food intake and fluid balance. 3. **Blood Pressure Regulation**: ENaC is involved in the regulation of blood pressure, particularly in salt-sensitive hypertension. The alpha subunit (SCNN1A) is critical for the function of ENaC, which is essential for maintaining sodium homeostasis and blood pressure regulation. 4. **Water Balance**: ENaC is also involved in the regulation of water balance in the body, particularly in the kidneys. The alpha subunit (SCNN1A) is essential for the function of ENaC, which is critical for maintaining sodium homeostasis and water balance. **Clinical Significance** Mutations in the SCNN1A gene have been associated with various forms of salt-sensitive hypertension, including: 1. **Pseudohypoaldosteronism Type 1 (PHPT-1)**: A rare genetic disorder characterized by excessive sodium reabsorption in the kidneys, leading to hypertension and hypokalemia. 2. **Congenital Hypertension**: Mutations in the SCNN1A gene have been associated with congenital hypertension, particularly in individuals with a family history of hypertension. 3. **Salt-Sensitive Hypertension**: The alpha subunit (SCNN1A) is critical for the function of ENaC, which is essential for maintaining sodium homeostasis and blood pressure regulation. Mutations in this gene can lead to salt-sensitive hypertension, particularly in individuals with a family history of hypertension. In conclusion, the SCNN1A gene plays a critical role in various physiological processes, including blood pressure regulation, sensory perception of salty and sour tastes, and water balance in the body. Mutations in this gene have been associated with various forms of salt-sensitive hypertension, highlighting the importance of this gene in maintaining proper sodium homeostasis and blood pressure regulation.

Genular Protein ID: 3522339951

Symbol: SCNNA_HUMAN

Name: Amiloride-sensitive sodium channel subunit alpha

UniProtKB Accession Codes:

P37088 A5X2U9 B4E2Q5 C5HTZ0 O43271 Q6GSQ6 Q9UM64

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 DrugCentral 1 ELM 1 EMBL 20 EMDB 2 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 24 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 6 RNAct 1 Reactome 2 RefSeq 3 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8278374

Title: The lung amiloride-sensitive Na+ channel: biophysical properties, pharmacology, ontogenesis, and molecular cloning.

PubMed ID: 8278374

DOI: 10.1073/pnas.91.1.247

PubMed ID: 8023962

Title: Cloning, expression, and tissue distribution of a human amiloride-sensitive Na+ channel.

PubMed ID: 8023962

DOI: 10.1152/ajplung.1994.266.6.l728

PubMed ID: 9654208

Title: Structural organisation of the gene encoding the alpha-subunit of the human amiloride-sensitive epithelial sodium channel.

PubMed ID: 9654208

DOI: 10.1007/s004390050743

PubMed ID: 10447117

Title: Hormonal regulation and genomic organization of the human amiloride-sensitive epithelial sodium channel alpha subunit gene.

PubMed ID: 10447117

DOI: 10.1203/00006450-199908000-00014

PubMed ID: 17766193

Title: Upregulated expression of ENaC in human CF nasal epithelium.

PubMed ID: 17766193

DOI: 10.1016/j.jcf.2007.07.012

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9612219

Title: 5' heterogeneity in epithelial sodium channel alpha-subunit mRNA leads to distinct NH2-terminal variant proteins.

PubMed ID: 9612219

DOI: 10.1152/ajpcell.1998.274.5.c1312

PubMed ID: 11266509

Title: The alpha-subunit of the epithelial sodium channel is an aldosterone-induced transcript in mammalian collecting ducts, and this transcriptional response is mediated via distinct cis-elements in the 5'-flanking region of the gene.

PubMed ID: 11266509

DOI: 10.1210/mend.15.4.0620

PubMed ID: 1939532

Title: Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects.

PubMed ID: 1939532

DOI: 10.1210/jcem-73-5-936

PubMed ID: 9575806

Title: Cloning and functional studies of splice variants of the alpha-subunit of the amiloride-sensitive Na+ channel.

PubMed ID: 9575806

DOI: 10.1152/ajpcell.1998.274.4.c1081

PubMed ID: 9169421

Title: Identification of novel human WW domain-containing proteins by cloning of ligand targets.

PubMed ID: 9169421

DOI: 10.1074/jbc.272.23.14611

PubMed ID: 11244092

Title: The Nedd4-like protein KIAA0439 is a potential regulator of the epithelial sodium channel.

PubMed ID: 11244092

DOI: 10.1074/jbc.c000906200

PubMed ID: 12167593

Title: Ubiquitin-protein ligase WWP2 binds to and downregulates the epithelial Na(+) channel.

PubMed ID: 12167593

DOI: 10.1152/ajprenal.00080.2002

PubMed ID: 18650438

Title: Proteolytic processing of the epithelial sodium channel gamma subunit has a dominant role in channel activation.

PubMed ID: 18650438

DOI: 10.1074/jbc.m803931200

PubMed ID: 18634878

Title: Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes.

PubMed ID: 18634878

DOI: 10.1016/j.jsbmb.2008.06.013

PubMed ID: 22207244

Title: Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways.

PubMed ID: 22207244

DOI: 10.1007/s00418-011-0904-1

PubMed ID: 22493497

Title: Regulation of epithelial sodium channel trafficking by proprotein convertase subtilisin/kexin type 9 (PCSK9).

PubMed ID: 22493497

DOI: 10.1074/jbc.m112.363382

PubMed ID: 24124190

Title: Identification of the SPLUNC1 ENaC-inhibitory domain yields novel strategies to treat sodium hyperabsorption in cystic fibrosis airway epithelial cultures.

PubMed ID: 24124190

DOI: 10.1152/ajplung.00103.2013

PubMed ID: 23665454

Title: Structure and dynamics of human Nedd4-1 WW3 in complex with the alphaENaC PY motif.

PubMed ID: 23665454

DOI: 10.1016/j.bbapap.2013.04.031

PubMed ID: 23547933

Title: ENaC modulators and renal disease.

PubMed ID: 23547933

DOI: 10.2174/1874467211306010005

PubMed ID: 26772908

Title: Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.

PubMed ID: 26772908

DOI: 10.1016/j.gene.2015.12.061

PubMed ID: 28130590

Title: Expression of epithelial sodium channel (ENaC) and CFTR in the human epidermis and epidermal appendages.

PubMed ID: 28130590

DOI: 10.1007/s00418-016-1535-3

PubMed ID: 10523338

Title: Genetic variants in the epithelial sodium channel in relation to aldosterone and potassium excretion and risk for hypertension.

PubMed ID: 10523338

DOI: 10.1161/01.hyp.34.4.631

PubMed ID: 11696533

Title: Serum and glucocorticoid-regulated kinase modulates Nedd4-2-mediated inhibition of the epithelial Na+ channel.

PubMed ID: 11696533

DOI: 10.1074/jbc.c100623200

PubMed ID: 28710092

Title: A Missense Mutation in the Extracellular Domain of alphaENaC Causes Liddle Syndrome.

PubMed ID: 28710092

DOI: 10.1681/asn.2016111163

PubMed ID: 10404817

Title: Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential?

PubMed ID: 10404817

DOI: 10.1210/jcem.84.7.5857

PubMed ID: 10586178

Title: Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel.

PubMed ID: 10586178

DOI: 10.1016/s0022-3476(99)70094-6

PubMed ID: 12107247

Title: Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes.

PubMed ID: 12107247

DOI: 10.1210/jcem.87.7.8674

PubMed ID: 15734793

Title: Impact of alphaENaC polymorphisms on the risk of ischemic cerebrovascular events: a multicenter case-control study.

PubMed ID: 15734793

DOI: 10.1373/clinchem.2004.046276

PubMed ID: 15853823

Title: Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.

PubMed ID: 15853823

DOI: 10.1111/j.1365-2265.2005.02255.x

PubMed ID: 16207733

Title: Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.

PubMed ID: 16207733

DOI: 10.1093/hmg/ddi374

PubMed ID: 19462466

Title: Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.

PubMed ID: 19462466

DOI: 10.1002/humu.21011

Sequence Information:

  • Length: 669
  • Mass: 75704
  • Checksum: 2CCF342E7DF32E72
  • Sequence:
    • MEGNKLEEQD SSPPQSTPGL MKGNKREEQG LGPEPAAPQQ PTAEEEALIE FHRSYRELFE 
FFCNNTTIHG AIRLVCSQHN RMKTAFWAVL WLCTFGMMYW QFGLLFGEYF SYPVSLNINL 
NSDKLVFPAV TICTLNPYRY PEIKEELEEL DRITEQTLFD LYKYSSFTTL VAGSRSRRDL 
RGTLPHPLQR LRVPPPPHGA RRARSVASSL RDNNPQVDWK DWKIGFQLCN QNKSDCFYQT 
YSSGVDAVRE WYRFHYINIL SRLPETLPSL EEDTLGNFIF ACRFNQVSCN QANYSHFHHP 
MYGNCYTFND KNNSNLWMSS MPGINNGLSL MLRAEQNDFI PLLSTVTGAR VMVHGQDEPA 
FMDDGGFNLR PGVETSISMR KETLDRLGGD YGDCTKNGSD VPVENLYPSK YTQQVCIHSC 
FQESMIKECG CAYIFYPRPQ NVEYCDYRKH SSWGYCYYKL QVDFSSDHLG CFTKCRKPCS 
VTSYQLSAGY SRWPSVTSQE WVFQMLSRQN NYTVNNKRNG VAKVNIFFKE LNYKTNSESP 
SVTMVTLLSN LGSQWSLWFG SSVLSVVEMA ELVFDLLVIM FLMLLRRFRS RYWSPGRGGR 
GAQEVASTLA SSPPSHFCPH PMSLSLSQPG PAPSPALTAP PPAYATLGPR PSPGGSAGAS 
SSTCPLGGP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.